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{"id": "MONDO:0005559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegenerative disease", "equivalent_identifiers": ["MONDO:0005559", "DOID:1289", "EFO:0005772", "UMLS:C0027746", "UMLS:C0270715", "UMLS:C0524851", "UMLS:C1285162", "UMLS:C4020854", "MESH:D009410", "MESH:D019636", "MEDDRA:10053643", "MEDDRA:10056677", "NCIT:C195952", "NCIT:C27090", "NCIT:C4802", "SNOMEDCT:362975008", "SNOMEDCT:80690008", "medgen:17999", "ICD10:G31.9", "HP:0002180"], "information_content": 54.9}
{"id": "MONDO:0005345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypospadias", "equivalent_identifiers": ["MONDO:0005345", "DOID:10892", "OMIM.PS:300633", "EFO:0004209", "UMLS:C0848558", "MESH:D007021", "MEDDRA:10021093", "NCIT:C40341", "SNOMEDCT:416010008", "medgen:163083", "icd11.foundation:810247271", "ICD10:Q54", "HP:0000047"], "information_content": 69.7}
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{"id": "MONDO:0005047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infertility", "equivalent_identifiers": ["MONDO:0005047", "DOID:5223", "EFO:0000545", "UMLS:C0021359", "UMLS:C1533568", "UMLS:C4074771", "MESH:D007246", "MEDDRA:10021926", "MEDDRA:10021930", "MEDDRA:10042012", "NCIT:C3836", "SNOMEDCT:15296000", "SNOMEDCT:8619003", "medgen:43876", "HP:0000789"], "information_content": 63.5}
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{"id": "MONDO:0002657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast disorder", "equivalent_identifiers": ["MONDO:0002657", "DOID:3463", "EFO:0009483", "UMLS:C0006145", "MESH:D001941", "MEDDRA:10006231", "MEDDRA:10006232", "MEDDRA:10045645", "MEDDRA:10058702", "MEDDRA:10061021", "NCIT:C26709", "SNOMEDCT:79604008", "medgen:652", "ICD10:N64.9", "ICD9:610-612.99"], "information_content": 56.0}
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{"id": "MONDO:0005570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hematologic disorder", "equivalent_identifiers": ["MONDO:0005570", "DOID:74", "orphanet:97992", "EFO:0005803", "UMLS:C0018939", "UMLS:C0850715", "UMLS:C1533163", "UMLS:C4020864", "MESH:D006402", "MEDDRA:10005493", "MEDDRA:10005495", "MEDDRA:10005496", "MEDDRA:10013895", "MEDDRA:10018847", "MEDDRA:10061590", "NCIT:C26323", "SNOMEDCT:191124002", "SNOMEDCT:34093004", "SNOMEDCT:414022008", "medgen:5483", "ICD10:D75.9", "ICD9:289.9", "HP:0001871"], "information_content": 44.6}
{"id": "MONDO:0011122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity", "equivalent_identifiers": ["MONDO:0011122", "DOID:9970", "EFO:0001073", "UMLS:C0028754", "UMLS:C1563743", "MESH:D009765", "MESH:D050154", "MEDDRA:10001293", "MEDDRA:10029883", "MEDDRA:10029885", "MEDDRA:10051361", "NCIT:C159658", "NCIT:C3283", "SNOMEDCT:414915002", "SNOMEDCT:414916001", "medgen:18127", "ICD10:E66.9", "ICD9:278.00", "HP:0001513"], "information_content": 75.8}
{"id": "MONDO:0005560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain disorder", "equivalent_identifiers": ["MONDO:0005560", "DOID:936", "EFO:0005774", "UMLS:C0006111", "UMLS:C0085584", "MESH:D001927", "MEDDRA:10006120", "MEDDRA:10014623", "MEDDRA:10014625", "MEDDRA:10014636", "MEDDRA:10014641", "NCIT:C26920", "NCIT:C96413", "SNOMEDCT:81308009", "medgen:14214", "ICD10:G93.40", "ICD10:G93.9", "ICD9:348.30", "ICD9:348.9", "HP:0001298"], "information_content": 50.1}
{"id": "MONDO:0005275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung disorder", "equivalent_identifiers": ["MONDO:0005275", "DOID:850", "EFO:0003818", "UMLS:C0024115", "UMLS:C4021760", "MESH:D008171", "MEDDRA:10013235", "MEDDRA:10013259", "MEDDRA:10025082", "MEDDRA:10025083", "MEDDRA:10037373", "MEDDRA:10049490", "MEDDRA:10051054", "NCIT:C3198", "SNOMEDCT:19829001", "medgen:7399", "ICD10:J98.4", "HP:0002088"], "information_content": 56.4}
{"id": "MONDO:0003900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "connective tissue disorder", "equivalent_identifiers": ["MONDO:0003900", "DOID:65", "EFO:1001986", "UMLS:C0009782", "MESH:D003240", "MEDDRA:10010759", "MEDDRA:10010760", "MEDDRA:10061087", "MEDDRA:10074472", "NCIT:C26729", "SNOMEDCT:105969002", "medgen:1098"], "information_content": 54.7}
{"id": "MONDO:0004985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bipolar disorder", "equivalent_identifiers": ["MONDO:0004985", "DOID:3312", "UMLS:C0005586", "UMLS:C0236780", "MESH:D001714", "MEDDRA:10004908", "MEDDRA:10004935", "MEDDRA:10004938", "MEDDRA:10026754", "MEDDRA:10026755", "MEDDRA:10026756", "MEDDRA:10026757", "MEDDRA:10026758", "MEDDRA:10037240", "MEDDRA:10037954", "MEDDRA:10057667", "NCIT:C34423", "SNOMEDCT:13746004", "SNOMEDCT:16506000", "medgen:2649", "ICD10:F31", "ICD9:296.40", "ICD9:296.60", "ICD9:296.80", "HP:0007302"], "information_content": 82.1}
{"id": "MONDO:0001627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dementia", "equivalent_identifiers": ["MONDO:0001627", "DOID:1307", "UMLS:C0154319", "UMLS:C0497327", "MESH:D003704", "MEDDRA:10001933", "MEDDRA:10012267", "MEDDRA:10012290", "NCIT:C4786", "SNOMEDCT:52448006", "medgen:99229", "icd11.foundation:546689346", "ICD9:290.8", "HP:0000726"], "information_content": 64.9}
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{"id": "MONDO:0008449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spina bifida", "equivalent_identifiers": ["MONDO:0008449", "DOID:0080016", "EFO:0003105", "UMLS:C0080178", "MESH:D016135", "MEDDRA:10041524", "NCIT:C101214", "SNOMEDCT:67531005", "medgen:38283", "icd11.foundation:2036217905", "ICD9:741", "HP:0002414"], "information_content": 74.1}
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{"id": "MONDO:0005372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "male infertility", "equivalent_identifiers": ["MONDO:0005372", "DOID:12336", "EFO:0004248", "UMLS:C0021364", "MESH:D007248", "MEDDRA:10021929", "MEDDRA:10025511", "SNOMEDCT:2904007", "medgen:5796", "icd11.foundation:753457327", "ICD10:N46", "ICD9:606", "HP:0003251"], "information_content": 68.4}
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{"id": "MONDO:0011438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acne", "equivalent_identifiers": ["MONDO:0011438", "DOID:6543", "EFO:0003894", "UMLS:C0001144", "UMLS:C0152249", "UMLS:C0702166", "UMLS:C4531022", "MESH:D000152", "MEDDRA:10000496", "MEDDRA:10000497", "MEDDRA:10000510", "MEDDRA:10000518", "MEDDRA:10000519", "NCIT:C27195", "SNOMEDCT:11381005", "SNOMEDCT:23894009", "SNOMEDCT:88616000", "medgen:152379", "icd11.foundation:1892393023", "ICD10:L70", "ICD10:L70.2", "ICD9:706.0", "HP:0001061"], "information_content": 90.9}
{"id": "MONDO:0005516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteochondrodysplasia", "equivalent_identifiers": ["MONDO:0005516", "DOID:2256", "EFO:0005571", "UMLS:C0029422", "UMLS:C4280567", "MESH:D010009", "NCIT:C84978", "SNOMEDCT:105985007", "SNOMEDCT:240190009", "medgen:10495", "ICD10:Q78.9", "ICD9:756.4", "HP:0002652"], "information_content": 63.0}
{"id": "MONDO:0000408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal alcohol spectrum disorder", "equivalent_identifiers": ["MONDO:0000408", "DOID:0050696", "UMLS:C2985290", "MESH:D063647", "MEDDRA:10087902", "MEDDRA:10087903", "NCIT:C92780", "SNOMEDCT:609437000", "medgen:457516"], "information_content": 89.4}
{"id": "MONDO:0005453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart disease", "equivalent_identifiers": ["MONDO:0005453", "DOID:1682", "EFO:0005207", "UMLS:C0018798", "UMLS:C0152021", "MESH:D006330", "MEDDRA:10002626", "MEDDRA:10010394", "MEDDRA:10010495", "MEDDRA:10013105", "MEDDRA:10019273", "MEDDRA:10019293", "MEDDRA:10025528", "MEDDRA:10045703", "NCIT:C34666", "NCIT:C95834", "SNOMEDCT:13213009", "medgen:57501", "ICD10:Q24.9", "ICD9:746.9", "HP:0001627"], "information_content": 54.8}
{"id": "MONDO:0019796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrocephalosyndactyly", "equivalent_identifiers": ["MONDO:0019796", "DOID:12960", "UMLS:C1510455", "MEDDRA:10000590", "NCIT:C34348", "SNOMEDCT:268262006", "medgen:267602", "ICD9:755.55"], "information_content": 82.1}
{"id": "MONDO:0008564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DiGeorge syndrome", "equivalent_identifiers": ["MONDO:0008564", "DOID:11198", "OMIM:188400", "UMLS:C0012236", "UMLS:C1861129", "UMLS:C5574896", "MESH:C566051", "MESH:D004062", "MEDDRA:10012979", "MEDDRA:10043664", "MEDDRA:10084363", "NCIT:C2989", "SNOMEDCT:767263007", "SNOMEDCT:77128003", "medgen:4297", "ICD10:D82.1", "ICD9:279.11"], "information_content": 88.2}
{"id": "MONDO:0005328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eye disorder", "equivalent_identifiers": ["MONDO:0005328", "DOID:1242", "DOID:5614", "EFO:0003966", "EFO:0009664", "UMLS:C0015393", "UMLS:C0015397", "UMLS:C0154780", "UMLS:C4316870", "MESH:D005124", "MESH:D005128", "MEDDRA:10010435", "MEDDRA:10010462", "MEDDRA:10013221", "MEDDRA:10015903", "MEDDRA:10015904", "MEDDRA:10015913", "MEDDRA:10015916", "MEDDRA:10015918", "MEDDRA:10015919", "MEDDRA:10015920", "MEDDRA:10015949", "MEDDRA:10030874", "MEDDRA:10045628", "MEDDRA:10045783", "MEDDRA:10045790", "MEDDRA:10054716", "MEDDRA:10059159", "NCIT:C26767", "NCIT:C98887", "SNOMEDCT:19416009", "SNOMEDCT:371405004", "medgen:1370071", "medgen:5092", "ICD10:H44", "ICD10:H44.39", "ICD9:360.29", "ICD9:379.90", "HP:0000478"], "information_content": 48.7}
{"id": "UniProtKB:Q7L592-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein arginine methyltransferase NDUFAF7, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L592-1", "PR:Q7L592-1", "ENSEMBL:ENSP00000002125", "ENSEMBL:ENSP00000002125.4"], "information_content": 100.0}
{"id": "MONDO:0001384", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopia", "equivalent_identifiers": ["MONDO:0001384", "DOID:11830", "OMIM.PS:160700", "UMLS:C0027092", "MESH:D009216", "MEDDRA:10028651", "MEDDRA:10040599", "MEDDRA:10040601", "MEDDRA:10057905", "NCIT:C102533", "SNOMEDCT:57190000", "medgen:44558", "icd11.foundation:1666440799", "ICD10:H52.1", "ICD9:367.1", "HP:0000545"], "information_content": 77.1}
{"id": "MONDO:0009723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leigh syndrome", "equivalent_identifiers": ["MONDO:0009723", "DOID:3652", "OMIM:256000", "orphanet:506", "UMLS:C0023264", "UMLS:C2931891", "MESH:C538590", "MESH:D007888", "MEDDRA:10062950", "NCIT:C84814", "SNOMEDCT:29570005", "medgen:419518", "icd11.foundation:672871576", "ICD10:G31.82"], "information_content": 88.2}
{"id": "MONDO:0015487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fatal infantile encephalocardiomyopathy", "equivalent_identifiers": ["MONDO:0015487", "DOID:0050713", "orphanet:1561", "UMLS:C4273730", "SNOMEDCT:718124006", "medgen:903874"], "information_content": 89.4}
{"id": "MONDO:0019354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stickler syndrome", "equivalent_identifiers": ["MONDO:0019354", "DOID:0080046", "OMIM.PS:108300", "orphanet:828", "UMLS:C0265253", "MEDDRA:10063402", "NCIT:C74984", "SNOMEDCT:78675000", "medgen:120521", "icd11.foundation:246271691"], "information_content": 87.2}
{"id": "MONDO:0009485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocerebrofacial syndrome, Kaufman type", "equivalent_identifiers": ["MONDO:0009485", "DOID:0111456", "OMIM:244450", "orphanet:2707", "UMLS:C1855663", "MESH:C537013", "SNOMEDCT:722056009", "medgen:343403"], "information_content": 100.0}
{"id": "MONDO:0001478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anisometropia", "equivalent_identifiers": ["MONDO:0001478", "DOID:12273", "UMLS:C0003081", "MESH:D015858", "MEDDRA:10002537", "SNOMEDCT:3289004", "medgen:8099", "icd11.foundation:386251928", "ICD10:H52.31", "ICD9:367.31", "HP:0012803"], "information_content": 100.0}
{"id": "UniProtKB:Q9BTY2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plasma alpha-L-fucosidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTY2-1", "PR:Q9BTY2-1", "ENSEMBL:ENSP00000002165", "ENSEMBL:ENSP00000002165.5"], "information_content": 100.0}
{"id": "MONDO:0009254", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fucosidosis", "equivalent_identifiers": ["MONDO:0009254", "DOID:14500", "OMIM:230000", "orphanet:349", "UMLS:C0016788", "MESH:D005645", "NCIT:C61274", "SNOMEDCT:64716005", "medgen:5288", "icd11.foundation:1470242510"], "information_content": 100.0}
{"id": "MONDO:0019248", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucolipidosis", "equivalent_identifiers": ["MONDO:0019248", "DOID:0080488", "orphanet:79212", "UMLS:C0026697", "MESH:D009081", "MEDDRA:10072939", "NCIT:C61267", "SNOMEDCT:70528007", "medgen:7731", "icd11.foundation:714623911"], "information_content": 84.2}
{"id": "MONDO:0003143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiokeratoma", "equivalent_identifiers": ["MONDO:0003143", "DOID:479", "UMLS:C0002985", "UMLS:C0346075", "MESH:D000794", "MEDDRA:10052166", "MEDDRA:10061639", "NCIT:C2874", "NCIT:C4488", "SNOMEDCT:254788004", "SNOMEDCT:26810009", "medgen:1542", "icd11.foundation:533651286", "HP:0001014"], "information_content": 88.2}
{"id": "MONDO:0005154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver disorder", "equivalent_identifiers": ["MONDO:0005154", "DOID:409", "EFO:0001421", "UMLS:C0023895", "UMLS:C4021780", "MESH:D008107", "MEDDRA:10013107", "MEDDRA:10013228", "MEDDRA:10013234", "MEDDRA:10019650", "MEDDRA:10019652", "MEDDRA:10019653", "MEDDRA:10024670", "MEDDRA:10045808", "MEDDRA:10059616", "NCIT:C3196", "SNOMEDCT:235856003", "medgen:893061", "ICD10:K76.9", "ICD9:573.9", "HP:0001392"], "information_content": 59.0}
{"id": "MONDO:0009561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mannosidosis", "equivalent_identifiers": ["MONDO:0009561", "DOID:3413", "OMIM:248500", "orphanet:61", "UMLS:C0024748", "UMLS:C1257960", "MESH:D008363", "MESH:D044904", "MEDDRA:10083855", "NCIT:C61275", "NCIT:C84548", "SNOMEDCT:124466001", "SNOMEDCT:65524005", "medgen:7467", "icd11.foundation:1944256516"], "information_content": 90.9}
{"id": "MONDO:0018149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GM1 gangliosidosis", "equivalent_identifiers": ["MONDO:0018149", "DOID:3322", "orphanet:354", "UMLS:C0085131", "UMLS:C1854788", "UMLS:C1856559", "UMLS:C2718068", "MESH:D016537", "MEDDRA:10083308", "NCIT:C84739", "SNOMEDCT:124465002", "SNOMEDCT:238025006", "medgen:43107", "icd11.foundation:401105928", "ICD10:E75.19", "HP:0008166"], "information_content": 90.9}
{"id": "MONDO:0005344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatitis B", "equivalent_identifiers": ["MONDO:0005344", "DOID:2043", "EFO:0004197", "UMLS:C0019163", "MESH:D006509", "MEDDRA:10019731", "MEDDRA:10040284", "MEDDRA:10047450", "NCIT:C3097", "SNOMEDCT:66071002", "medgen:6807"], "information_content": 90.9}
{"id": "MONDO:0009737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "galactosialidosis", "equivalent_identifiers": ["MONDO:0009737", "DOID:0080540", "OMIM:256540", "orphanet:351", "UMLS:C0268233", "MESH:C536411", "MEDDRA:10083306", "NCIT:C129928", "SNOMEDCT:35691006", "medgen:82779", "icd11.foundation:1838660035"], "information_content": 100.0}
{"id": "MONDO:0000263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngotracheitis", "equivalent_identifiers": ["MONDO:0000263", "DOID:0050148", "UMLS:C0023076", "UMLS:C0155811", "UMLS:C0155837", "MEDDRA:10000827", "MEDDRA:10008942", "MEDDRA:10023882", "MEDDRA:10023883", "MEDDRA:10023894", "MEDDRA:10023895", "MEDDRA:10023896", "SNOMEDCT:276443001", "SNOMEDCT:55130001", "SNOMEDCT:64375000", "SNOMEDCT:83271005", "medgen:507907", "ICD10:J04", "ICD10:J37.1", "ICD9:464", "ICD9:476.1"], "information_content": 95.4}
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{"id": "MONDO:0004982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatitis", "equivalent_identifiers": ["MONDO:0004982", "DOID:4989", "EFO:0000278", "UMLS:C0030305", "MESH:D010195", "MEDDRA:10033645", "MEDDRA:10033656", "MEDDRA:10076039", "NCIT:C3306", "SNOMEDCT:75694006", "medgen:14586", "ICD10:K85.9", "HP:0001733"], "information_content": 74.2}
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{"id": "MONDO:0003781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchitis", "equivalent_identifiers": ["MONDO:0003781", "DOID:6132", "EFO:0009661", "UMLS:C0006277", "MESH:D001991", "MEDDRA:10006451", "MEDDRA:10006461", "NCIT:C2911", "SNOMEDCT:32398004", "medgen:2736", "icd11.foundation:11753425", "ICD10:J20", "ICD10:J40", "ICD10:J42", "ICD9:466.0", "ICD9:490", "ICD9:491", "HP:0012387"], "information_content": 86.3}
{"id": "MONDO:0001751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis", "equivalent_identifiers": ["MONDO:0001751", "DOID:13580", "UMLS:C0008370", "MESH:D002779", "MEDDRA:10004620", "MEDDRA:10004673", "MEDDRA:10008635", "MEDDRA:10029961", "MEDDRA:10056375", "NCIT:C83006", "SNOMEDCT:197446008", "SNOMEDCT:30144000", "SNOMEDCT:33688009", "medgen:925", "ICD10:K83.1", "ICD9:576.2", "HP:0001396"], "information_content": 76.7}
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{"id": "MONDO:0005657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aspergillosis", "equivalent_identifiers": ["MONDO:0005657", "DOID:13564", "orphanet:1163", "EFO:0007157", "UMLS:C0004030", "MESH:D001228", "MEDDRA:10003486", "MEDDRA:10003488", "MEDDRA:10051356", "MEDDRA:10051619", "MEDDRA:10074171", "NCIT:C2886", "SNOMEDCT:65553006", "medgen:13939", "icd11.foundation:1913468488", "ICD10:B44", "ICD9:117.3"], "information_content": 86.3}
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{"id": "MONDO:0005308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliopathy", "equivalent_identifiers": ["MONDO:0005308", "DOID:0060340", "orphanet:363250", "EFO:0003900", "UMLS:C4277690", "MESH:D000072661", "medgen:908923"], "information_content": 64.7}
{"id": "MONDO:0013282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha 1-antitrypsin deficiency", "equivalent_identifiers": ["MONDO:0013282", "DOID:13372", "OMIM:613490", "orphanet:60", "UMLS:C0221757", "MESH:D019896", "MEDDRA:10001806", "MEDDRA:10001811", "MEDDRA:10083869", "NCIT:C84397", "SNOMEDCT:30188007", "medgen:67461", "icd11.foundation:824872160", "ICD10:E88.01", "ICD9:273.4"], "information_content": 100.0}
{"id": "MONDO:0020605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked recessive disease", "equivalent_identifiers": ["MONDO:0020605", "DOID:0080012", "UMLS:C5566660", "SNOMEDCT:1162976004", "medgen:1798083"], "information_content": 82.6}
{"id": "MONDO:0005336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy", "equivalent_identifiers": ["MONDO:0005336", "DOID:423", "EFO:0004145", "UMLS:C0026848", "MEDDRA:10013237", "MEDDRA:10028300", "MEDDRA:10028301", "MEDDRA:10028302", "MEDDRA:10028640", "MEDDRA:10028641", "MEDDRA:10028649", "NCIT:C101216", "SNOMEDCT:129565002", "medgen:10135", "icd11.foundation:1870184184", "ICD10:G72.9", "ICD9:359.9", "HP:0003198"], "information_content": 59.1}
{"id": "MONDO:0015766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholera", "equivalent_identifiers": ["MONDO:0015766", "DOID:1498", "orphanet:173", "UMLS:C0008354", "MESH:D002771", "MEDDRA:10008631", "MEDDRA:10008632", "MEDDRA:10008634", "MEDDRA:10045658", "MEDDRA:10047397", "MEDDRA:10047398", "MEDDRA:10088337", "NCIT:C157812", "SNOMEDCT:63650001", "medgen:40263", "icd11.foundation:257068234", "ICD10:A00", "ICD9:001"], "information_content": 100.0}
{"id": "MONDO:0005265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease", "equivalent_identifiers": ["MONDO:0005265", "DOID:0050589", "OMIM.PS:266600", "EFO:0003767", "UMLS:C0021390", "UMLS:C0578878", "MESH:D015212", "MEDDRA:10021184", "MEDDRA:10021972", "MEDDRA:10021973", "NCIT:C3138", "SNOMEDCT:24526004", "SNOMEDCT:302168000", "medgen:43877", "KEGG.DISEASE:05321", "HP:0002037"], "information_content": 70.9}
{"id": "MONDO:0005709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "common cold", "equivalent_identifiers": ["MONDO:0005709", "DOID:10459", "EFO:0007214", "UMLS:C0009443", "MESH:D003139", "MEDDRA:10000937", "MEDDRA:10000938", "MEDDRA:10009851", "MEDDRA:10010106", "MEDDRA:10010107", "MEDDRA:10019192", "MEDDRA:10021921", "MEDDRA:10039084", "MEDDRA:10059827", "MEDDRA:10066743", "NCIT:C34500", "NCIT:C78599", "SNOMEDCT:82272006", "medgen:3179", "ICD10:J00", "ICD9:460"], "information_content": 100.0}
{"id": "MONDO:0005271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Allergy", "equivalent_identifiers": ["MONDO:0005271", "DOID:1205", "UMLS:C0020517", "UMLS:C1527304", "UMLS:C3539909", "MESH:D006967", "MEDDRA:10001718", "MEDDRA:10001719", "MEDDRA:10001738", "MEDDRA:10001741", "MEDDRA:10020751", "MEDDRA:10020755", "MEDDRA:10020756", "MEDDRA:10020757", "MEDDRA:10020759", "MEDDRA:10037932", "MEDDRA:10037948", "NCIT:C114476", "SNOMEDCT:419076005", "SNOMEDCT:421961002", "SNOMEDCT:609328004", "medgen:9370", "ICD10:T78.40", "HP:0012393"], "information_content": 73.1}
{"id": "MONDO:0958151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cepacia syndrome", "equivalent_identifiers": ["MONDO:0958151", "DOID:0070528"], "information_content": 100.0}
{"id": "MONDO:0002561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lysosomal storage disease", "equivalent_identifiers": ["MONDO:0002561", "DOID:3211", "orphanet:68366", "UMLS:C0085078", "UMLS:C5848368", "MESH:D016464", "MEDDRA:10024579", "MEDDRA:10086694", "NCIT:C61250", "SNOMEDCT:23585005", "SNOMEDCT:28821000119102", "medgen:43098", "icd11.foundation:656131403"], "information_content": 66.3}
{"id": "MONDO:0005267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart disorder", "equivalent_identifiers": ["MONDO:0005267", "DOID:114", "EFO:0003777", "UMLS:C0018799", "MESH:D006331", "MEDDRA:10007540", "MEDDRA:10007541", "MEDDRA:10013199", "MEDDRA:10019276", "MEDDRA:10019277", "MEDDRA:10061024", "NCIT:C3079", "SNOMEDCT:56265001", "medgen:5458", "ICD10:I51.9", "ICD9:429.9"], "information_content": 56.3}
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{"id": "MONDO:0009861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phenylketonuria", "equivalent_identifiers": ["MONDO:0009861", "DOID:9281", "OMIM:261600", "orphanet:716", "UMLS:C0031485", "UMLS:C2678416", "MESH:C567494", "MESH:D010661", "MEDDRA:10034871", "MEDDRA:10034872", "MEDDRA:10034873", "MEDDRA:10035118", "MEDDRA:10060404", "NCIT:C81315", "SNOMEDCT:190687004", "SNOMEDCT:7573000", "medgen:19244", "icd11.foundation:444122923", "ICD9:270.1"], "information_content": 84.2}
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{"id": "MONDO:0004789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholangitis", "equivalent_identifiers": ["MONDO:0004789", "DOID:9446", "UMLS:C0008311", "MESH:D002761", "MEDDRA:10008604", "MEDDRA:10008608", "MEDDRA:10021952", "NCIT:C26718", "SNOMEDCT:82403002", "medgen:40258", "icd11.foundation:1712178777", "ICD10:K83.0", "ICD9:576.1", "HP:0030151"], "information_content": 77.3}
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{"id": "MONDO:0010134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pendred syndrome", "equivalent_identifiers": ["MONDO:0010134", "DOID:0060744", "OMIM:274600", "orphanet:705", "UMLS:C0271829", "MESH:C536648", "MEDDRA:10080398", "NCIT:C121745", "SNOMEDCT:70348004", "medgen:82890", "icd11.foundation:1156056623", "ICD10:E07.1"], "information_content": 100.0}
{"id": "MONDO:0005093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin disorder", "equivalent_identifiers": ["MONDO:0005093", "DOID:37", "EFO:0000701", "UMLS:C0029574", "UMLS:C0037268", "UMLS:C0037274", "UMLS:C5848159", "MESH:D012868", "MESH:D012871", "MEDDRA:10040831", "MEDDRA:10040833", "MEDDRA:10040888", "MEDDRA:10048768", "MEDDRA:10067769", "MEDDRA:10087776", "NCIT:C27554", "NCIT:C3371", "NCIT:C97174", "SNOMEDCT:199879009", "SNOMEDCT:95320005", "medgen:20777", "ICD9:702", "HP:0000951"], "information_content": 49.8}
{"id": "MONDO:0004739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urea cycle disorder", "equivalent_identifiers": ["MONDO:0004739", "DOID:9267", "orphanet:79167", "UMLS:C0154246", "MESH:D056806", "MEDDRA:10013373", "MEDDRA:10080020", "NCIT:C84785", "SNOMEDCT:36444000", "medgen:57586", "ICD10:E72.2", "ICD9:270.6"], "information_content": 80.6}
{"id": "MONDO:0006823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Klinefelter syndrome", "equivalent_identifiers": ["MONDO:0006823", "DOID:1921", "EFO:1001006", "UMLS:C0022735", "MESH:D007713", "MEDDRA:10023463", "MEDDRA:10048229", "NCIT:C34752", "SNOMEDCT:22053006", "SNOMEDCT:405769009", "medgen:44033", "icd11.foundation:1937385304", "ICD10:Q98.0", "ICD9:758.7"], "information_content": 90.9}
{"id": "MONDO:0007186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heartburn", "equivalent_identifiers": ["MONDO:0007186", "DOID:8534", "OMIM:109350", "EFO:0003948", "UMLS:C0017168", "UMLS:C0018834", "UMLS:C3813607", "UMLS:C4317146", "MESH:D005764", "MESH:D006356", "MEDDRA:10015389", "MEDDRA:10017884", "MEDDRA:10017885", "MEDDRA:10017924", "MEDDRA:10018203", "MEDDRA:10019326", "MEDDRA:10030182", "MEDDRA:10037676", "MEDDRA:10066874", "MEDDRA:10088006", "NCIT:C113396", "NCIT:C26781", "NCIT:C34670", "NCIT:C92560", "SNOMEDCT:16331000", "SNOMEDCT:235595009", "SNOMEDCT:698065002", "SNOMEDCT:722884003", "medgen:6553", "ICD10:K21.9", "ICD9:530.81", "HP:0002020"], "information_content": 74.7}
{"id": "MONDO:0005052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "irritable bowel syndrome", "equivalent_identifiers": ["MONDO:0005052", "DOID:9778", "EFO:0000555", "UMLS:C0022104", "MESH:D043183", "MEDDRA:10009897", "MEDDRA:10009980", "MEDDRA:10017494", "MEDDRA:10023002", "MEDDRA:10023003", "MEDDRA:10023004", "MEDDRA:10023005", "MEDDRA:10028131", "MEDDRA:10041409", "MEDDRA:10089727", "NCIT:C82343", "SNOMEDCT:10743008", "medgen:5897", "icd11.foundation:1158238623", "ICD10:K58", "ICD9:564.1"], "information_content": 100.0}
{"id": "MONDO:0005244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy", "equivalent_identifiers": ["MONDO:0005244", "DOID:870", "EFO:0003100", "UMLS:C0031117", "UMLS:C0442874", "MEDDRA:10029328", "MEDDRA:10029330", "NCIT:C119734", "NCIT:C4731", "SNOMEDCT:386033004", "medgen:18386", "ICD10:G62.9", "HP:0009830"], "information_content": 59.7}
{"id": "MONDO:0003409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colonic disease", "equivalent_identifiers": ["MONDO:0003409", "DOID:5353", "UMLS:C0009373", "MESH:D003108", "SNOMEDCT:128524007", "medgen:1049"], "information_content": 68.7}
{"id": "MONDO:0018076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tuberculosis", "equivalent_identifiers": ["MONDO:0018076", "DOID:399", "orphanet:3389", "UMLS:C0041296", "MESH:D014376", "MEDDRA:10021868", "MEDDRA:10021870", "MEDDRA:10043148", "MEDDRA:10044755", "MEDDRA:10044756", "MEDDRA:10044766", "NCIT:C3423", "SNOMEDCT:371569005", "SNOMEDCT:373576009", "SNOMEDCT:56717001", "medgen:22513", "icd11.foundation:2072728114"], "information_content": 73.2}
{"id": "MONDO:0002909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperglycemia", "equivalent_identifiers": ["MONDO:0002909", "DOID:4195", "UMLS:C0020456", "MESH:D006943", "MEDDRA:10020635", "MEDDRA:10020637", "MEDDRA:10020639", "NCIT:C26797", "SNOMEDCT:237598005", "SNOMEDCT:80394007", "medgen:5689", "ICD10:R73.9", "HP:0003074"], "information_content": 88.2}
{"id": "MONDO:0003014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhinitis", "equivalent_identifiers": ["MONDO:0003014", "DOID:4483", "EFO:0008521", "UMLS:C0035455", "UMLS:C0240557", "UMLS:C2718128", "MESH:D012220", "MEDDRA:10028741", "MEDDRA:10028742", "MEDDRA:10039083", "MEDDRA:10039092", "NCIT:C34986", "SNOMEDCT:70076002", "medgen:19782", "HP:0012384"], "information_content": 84.8}
{"id": "MONDO:0012672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholelithiasis", "equivalent_identifiers": ["MONDO:0012672", "DOID:10211", "OMIM:611465", "EFO:0004799", "UMLS:C0006739", "UMLS:C0008350", "UMLS:C1969115", "MESH:C566936", "MESH:D002769", "MEDDRA:10004674", "MEDDRA:10006986", "MEDDRA:10008629", "MEDDRA:10017650", "NCIT:C122822", "SNOMEDCT:266474003", "medgen:3039", "icd11.foundation:1268183934", "ICD9:574.5", "HP:0001081"], "information_content": 88.2}
{"id": "MONDO:0002146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadism", "equivalent_identifiers": ["MONDO:0002146", "DOID:1924", "UMLS:C0020619", "MESH:D007006", "MEDDRA:10058359", "NCIT:C9227", "SNOMEDCT:48130008", "medgen:5711", "HP:0000135"], "information_content": 68.0}
{"id": "MONDO:0004741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tyrosinemia", "equivalent_identifiers": ["MONDO:0004741", "DOID:9275", "OMIM.PS:276700", "UMLS:C0268483", "UMLS:C0268486", "MESH:D020176", "MEDDRA:10063443", "MEDDRA:10063446", "NCIT:C98640", "SNOMEDCT:190694001", "SNOMEDCT:271847005", "medgen:78682", "ICD10:E70.21"], "information_content": 89.4}
{"id": "MONDO:0002408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary hyperbilirubinemia", "equivalent_identifiers": ["MONDO:0002408", "DOID:2741", "OMIM.PS:237450", "UMLS:C0020435", "MESH:D006933", "NCIT:C84761", "medgen:6963"], "information_content": 84.8}
{"id": "MONDO:0002525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inherited lipid metabolism disorder", "equivalent_identifiers": ["MONDO:0002525", "DOID:3146", "orphanet:309005", "UMLS:C0023772", "UMLS:C0154251", "UMLS:C1274229", "MESH:D008052", "MESH:D052439", "MEDDRA:10013317", "MEDDRA:10024582", "MEDDRA:10045807", "MEDDRA:10059674", "MEDDRA:10061227", "MEDDRA:10072272", "NCIT:C97092", "SNOMEDCT:267431006", "SNOMEDCT:402788005", "medgen:57587"], "information_content": 62.5}
{"id": "MONDO:0004946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoglycemia", "equivalent_identifiers": ["MONDO:0004946", "DOID:9993", "UMLS:C0020615", "MESH:D007003", "MEDDRA:10020993", "MEDDRA:10020996", "MEDDRA:10020998", "MEDDRA:10021005", "MEDDRA:10021007", "NCIT:C3126", "SNOMEDCT:237630007", "SNOMEDCT:271327008", "SNOMEDCT:302866003", "medgen:6979", "ICD10:E16.2", "ICD9:251.2", "HP:0001943"], "information_content": 82.6}
{"id": "MONDO:0005010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coronary artery disorder", "equivalent_identifiers": ["MONDO:0005010", "DOID:3393", "EFO:0001645", "UMLS:C0010068", "UMLS:C0264694", "UMLS:C1533195", "UMLS:C1956346", "MESH:D003324", "MESH:D003327", "MEDDRA:10008936", "MEDDRA:10008937", "MEDDRA:10011078", "MEDDRA:10011079", "MEDDRA:10011080", "MEDDRA:10011081", "MEDDRA:10011082", "MEDDRA:10011099", "MEDDRA:10013098", "MEDDRA:10013210", "MEDDRA:10068617", "NCIT:C26732", "SNOMEDCT:413838009", "SNOMEDCT:413844008", "SNOMEDCT:414024009", "SNOMEDCT:53741008", "medgen:365486", "ICD10:I20-I25", "ICD10:I25", "ICD10:I25.10", "ICD9:410-414.99", "ICD9:414.0", "ICD9:414.9", "HP:0001677"], "information_content": 77.6}
{"id": "MONDO:0005667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "biliary dyskinesia", "equivalent_identifiers": ["MONDO:0005667", "DOID:4140", "EFO:0007169", "UMLS:C0005416", "MESH:D001657", "MEDDRA:10056529", "MEDDRA:10087760", "SNOMEDCT:197432008", "medgen:2627", "HP:0012396"], "information_content": 92.8}
{"id": "DOID:0080577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polygenic disease", "equivalent_identifiers": ["DOID:0080577"]}
{"id": "MONDO:0006920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prediabetes", "equivalent_identifiers": ["MONDO:0006920", "DOID:11716", "EFO:1001121", "UMLS:C0362046", "MESH:D011236", "MEDDRA:10006026", "MEDDRA:10036481", "MEDDRA:10036482", "MEDDRA:10065542", "NCIT:C122685", "SNOMEDCT:714628002", "medgen:83928"], "information_content": 100.0}
{"id": "MONDO:0010200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wilson disease", "equivalent_identifiers": ["MONDO:0010200", "DOID:893", "OMIM:277900", "orphanet:905", "UMLS:C0019202", "MESH:D006527", "MEDDRA:10019819", "MEDDRA:10047988", "NCIT:C84756", "SNOMEDCT:190823004", "SNOMEDCT:88518009", "medgen:42426", "icd11.foundation:468161208", "ICD10:E83.01"], "information_content": 100.0}
{"id": "MONDO:0008638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "varicose veins", "equivalent_identifiers": ["MONDO:0008638", "DOID:799", "OMIM:192200", "UMLS:C0042345", "MESH:D014648", "MEDDRA:10046996", "MEDDRA:10047001", "MEDDRA:10047008", "MEDDRA:10047029", "MEDDRA:10047189", "MEDDRA:10057165", "MEDDRA:10090127", "NCIT:C35114", "SNOMEDCT:128060009", "SNOMEDCT:12856003", "SNOMEDCT:399989005", "medgen:21827", "ICD10:I83.90", "HP:0002619"], "information_content": 82.6}
{"id": "MONDO:0009047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryptorchidism", "equivalent_identifiers": ["MONDO:0009047", "DOID:11383", "OMIM:219050", "EFO:0004562", "UMLS:C0010417", "MESH:D003456", "MEDDRA:10011498", "MEDDRA:10025500", "MEDDRA:10025501", "MEDDRA:10043294", "MEDDRA:10043295", "MEDDRA:10045505", "MEDDRA:10045506", "MEDDRA:10056600", "NCIT:C12326", "SNOMEDCT:204878001", "medgen:8192", "icd11.foundation:1134950387", "ICD10:Q53.9", "ICD9:752.51", "HP:0000028"], "information_content": 69.7}
{"id": "MONDO:0004298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stomach disease", "equivalent_identifiers": ["MONDO:0004298", "DOID:76", "EFO:0009608", "UMLS:C0038354", "MESH:D013272", "MEDDRA:10056819", "MEDDRA:10072971", "NCIT:C26886", "SNOMEDCT:29384001", "medgen:21329"], "information_content": 62.2}
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{"id": "MONDO:0005311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atherosclerosis", "equivalent_identifiers": ["MONDO:0005311", "DOID:1936", "EFO:0003914", "UMLS:C0004153", "UMLS:C2711237", "UMLS:C4280569", "MESH:D050197", "MEDDRA:10003601", "MEDDRA:10051615", "MEDDRA:10065530", "NCIT:C35768", "NCIT:C35771", "SNOMEDCT:38716007", "SNOMEDCT:441574008", "medgen:13948", "ICD10:I70", "ICD9:440", "HP:0002621"], "information_content": 77.8}
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{"id": "MONDO:0002012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic acidemia", "equivalent_identifiers": ["MONDO:0002012", "DOID:14749", "OMIM.PS:251000", "UMLS:C0268583", "MESH:C537358", "MEDDRA:10088602", "MEDDRA:10088603", "NCIT:C98986", "SNOMEDCT:42393006", "medgen:120654", "HP:0002912"], "information_content": 80.6}
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{"id": "MONDO:0003019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypokalemia", "equivalent_identifiers": ["MONDO:0003019", "DOID:4500", "UMLS:C0020621", "UMLS:C0683388", "UMLS:C1514284", "UMLS:C1971021", "MESH:D007008", "MEDDRA:10021015", "MEDDRA:10021017", "MEDDRA:10021018", "MEDDRA:10021020", "MEDDRA:10021080", "MEDDRA:10021081", "MEDDRA:10024923", "MEDDRA:10042817", "MEDDRA:10060423", "NCIT:C34939", "NCIT:C37974", "SNOMEDCT:166690008", "SNOMEDCT:43339004", "medgen:271346", "HP:0002900"], "information_content": 85.5}
{"id": "MONDO:0020678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sensorineural hearing loss disorder", "equivalent_identifiers": ["MONDO:0020678", "DOID:10003", "EFO:1001176", "UMLS:C0018784", "MESH:D006319", "MEDDRA:10029253", "MEDDRA:10034375", "MEDDRA:10040015", "MEDDRA:10040016", "MEDDRA:10040018", "NCIT:C26739", "SNOMEDCT:60700002", "medgen:9164", "ICD10:H90.5", "ICD9:389.1", "HP:0000407"], "information_content": 78.5}
{"id": "MONDO:0000831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombosis", "equivalent_identifiers": ["MONDO:0000831", "DOID:0060903", "UMLS:C0040053", "MESH:D013927", "MEDDRA:10043607", "MEDDRA:10043628", "NCIT:C26891", "SNOMEDCT:118927008", "SNOMEDCT:264579008", "SNOMEDCT:439127006", "medgen:21160"], "information_content": 76.2}
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{"id": "MONDO:0008608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Down syndrome", "equivalent_identifiers": ["MONDO:0008608", "DOID:14250", "OMIM:190685", "orphanet:870", "EFO:0001064", "UMLS:C0013080", "UMLS:C1860786", "UMLS:C1860787", "MESH:C566023", "MESH:D004314", "MEDDRA:10013616", "MEDDRA:10027816", "MEDDRA:10042801", "MEDDRA:10044688", "NCIT:C2993", "SNOMEDCT:41040004", "SNOMEDCT:737542000", "medgen:4385", "icd11.foundation:1624623908", "ICD10:Q90", "ICD9:758.0"], "information_content": 83.6}
{"id": "MONDO:0019501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome", "equivalent_identifiers": ["MONDO:0019501", "DOID:0050439", "OMIM.PS:276900", "orphanet:886", "UMLS:C0271097", "MESH:D052245", "MEDDRA:10063396", "NCIT:C85217", "medgen:78754", "icd11.foundation:1452641873"], "information_content": 79.9}
{"id": "MONDO:0002412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disorder of glycogen metabolism", "equivalent_identifiers": ["MONDO:0002412", "DOID:0050728", "DOID:2747", "OMIM.PS:232200", "orphanet:79201", "UMLS:C0017919", "MESH:D006008", "MEDDRA:10018463", "MEDDRA:10018465", "MEDDRA:10018466", "MEDDRA:10061990", "NCIT:C61272", "SNOMEDCT:29633007", "medgen:6639", "icd11.foundation:1187107383", "ICD9:271.0"], "information_content": 74.5}
{"id": "MONDO:0019497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nonsyndromic genetic hearing loss", "equivalent_identifiers": ["MONDO:0019497", "DOID:0050563", "orphanet:87884", "EFO:0009076", "UMLS:C3711374", "UMLS:C5680182", "MESH:C580334", "SNOMEDCT:1260199008", "medgen:1830101", "icd11.foundation:1154032108"], "information_content": 65.2}
{"id": "MONDO:0002269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastroenteritis", "equivalent_identifiers": ["MONDO:0002269", "DOID:2326", "EFO:1001463", "UMLS:C0017160", "MESH:D005759", "MEDDRA:10017888", "MEDDRA:10017907", "NCIT:C34632", "SNOMEDCT:25374005", "medgen:8967"], "information_content": 64.3}
{"id": "MONDO:0004972", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenoma", "equivalent_identifiers": ["MONDO:0004972", "DOID:657", "EFO:0000232", "UMLS:C0001430", "UMLS:C0334389", "MESH:D000236", "MEDDRA:10001231", "MEDDRA:10001233", "MEDDRA:10001234", "MEDDRA:10001236", "NCIT:C2855", "NCIT:C4196", "SNOMEDCT:1187227004", "SNOMEDCT:1187375007", "SNOMEDCT:1187379001", "SNOMEDCT:443416007", "SNOMEDCT:79041005", "medgen:125"], "information_content": 60.6}
{"id": "DOID:3883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lynch syndrome", "equivalent_identifiers": ["DOID:3883", "UMLS:C0009405", "UMLS:C4552100", "MESH:D003123", "MEDDRA:10051981", "NCIT:C8494", "SNOMEDCT:716318002"], "information_content": 78.5}
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{"id": "MONDO:0006026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bladder disease", "equivalent_identifiers": ["MONDO:0006026", "DOID:365", "EFO:1000018", "UMLS:C0005686", "MESH:D001745", "MEDDRA:10005035", "MEDDRA:10045774", "MEDDRA:10061011", "NCIT:C2900", "SNOMEDCT:42643001", "medgen:2278", "ICD10:N32.9", "ICD9:596.9"], "information_content": 63.6}
{"id": "MONDO:0008863", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sitosterolemia", "equivalent_identifiers": ["MONDO:0008863", "DOID:0090019", "OMIM.PS:210250", "orphanet:2882", "UMLS:C0342907", "MESH:C537345", "MEDDRA:10063985", "MEDDRA:10063989", "MEDDRA:10063990", "MEDDRA:10063991", "MEDDRA:10064629", "MEDDRA:10064636", "NCIT:C125694", "SNOMEDCT:238104009", "medgen:87466"], "information_content": 92.8}
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{"id": "MONDO:0002026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "candidiasis", "equivalent_identifiers": ["MONDO:0002026", "DOID:1508", "EFO:1001283", "UMLS:C0006840", "MESH:D002177", "MEDDRA:10007134", "MEDDRA:10007136", "MEDDRA:10007152", "MEDDRA:10007154", "MEDDRA:10007163", "MEDDRA:10027817", "MEDDRA:10027821", "MEDDRA:10027825", "MEDDRA:10027834", "MEDDRA:10049991", "MEDDRA:10074170", "NCIT:C26711", "SNOMEDCT:78048006", "medgen:14299", "ICD10:B37", "ICD9:112"], "information_content": 82.1}
{"id": "MONDO:0001444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chagas disease", "equivalent_identifiers": ["MONDO:0001444", "DOID:12140", "orphanet:3386", "EFO:0008559", "UMLS:C0007932", "UMLS:C0041234", "MESH:D014355", "MEDDRA:10001935", "MEDDRA:10008384", "MEDDRA:10044706", "NCIT:C84629", "SNOMEDCT:77506005", "medgen:11935", "icd11.foundation:1365585570", "ICD10:B57.0", "ICD10:B57.1", "ICD10:B57.3", "ICD10:B57.4", "ICD10:B57.5", "ICD9:086.2", "KEGG.DISEASE:05142"], "information_content": 95.4}
{"id": "MONDO:0019136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zygomycosis", "equivalent_identifiers": ["MONDO:0019136", "DOID:8485", "orphanet:73263", "EFO:0007380", "UMLS:C0026718", "UMLS:C0043541", "UMLS:C0300933", "MESH:D009091", "MESH:D020096", "MEDDRA:10028098", "MEDDRA:10048290", "MEDDRA:10061418", "NCIT:C77212", "SNOMEDCT:59277005", "SNOMEDCT:76627001", "medgen:12207", "icd11.foundation:1676389165"], "information_content": 90.9}
{"id": "MONDO:0004678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatophytosis", "equivalent_identifiers": ["MONDO:0004678", "DOID:8913", "UMLS:C0011636", "MEDDRA:10012504", "MEDDRA:10012505", "MEDDRA:10012516", "NCIT:C26745", "SNOMEDCT:47382004", "medgen:3768", "icd11.foundation:1802307036", "ICD9:110"], "information_content": 83.1}
{"id": "MONDO:0011989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leishmaniasis", "equivalent_identifiers": ["MONDO:0011989", "DOID:9065", "orphanet:507", "EFO:0005044", "UMLS:C0023281", "MESH:D007896", "MEDDRA:10024198", "MEDDRA:10024199", "MEDDRA:10024201", "MEDDRA:10057168", "NCIT:C34767", "SNOMEDCT:80612004", "medgen:9714", "icd11.foundation:1082373067", "ICD10:B55", "ICD9:085"], "information_content": 86.3}
{"id": "MONDO:0016426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fusariosis", "equivalent_identifiers": ["MONDO:0016426", "DOID:0050289", "orphanet:228119", "EFO:1001795", "UMLS:C0276758", "MESH:D060585", "MEDDRA:10051919", "MEDDRA:10089361", "SNOMEDCT:64250002", "medgen:452375", "icd11.foundation:565900954"], "information_content": 100.0}
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{"id": "MONDO:0005724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryptococcosis", "equivalent_identifiers": ["MONDO:0005724", "DOID:12053", "orphanet:1546", "EFO:0007229", "UMLS:C0010414", "UMLS:C5235087", "MESH:D003453", "MEDDRA:10006837", "MEDDRA:10011490", "MEDDRA:10011491", "MEDDRA:10011493", "MEDDRA:10044079", "NCIT:C2967", "SNOMEDCT:42386007", "medgen:8189", "icd11.foundation:390527954", "ICD10:B45", "ICD9:117.5"], "information_content": 89.4}
{"id": "MONDO:0005706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coccidioidomycosis", "equivalent_identifiers": ["MONDO:0005706", "DOID:13450", "orphanet:228123", "EFO:0007211", "UMLS:C0009186", "UMLS:C0700644", "MESH:D003047", "MEDDRA:10009822", "MEDDRA:10009824", "MEDDRA:10009825", "MEDDRA:10009826", "MEDDRA:10036691", "MEDDRA:10067094", "MEDDRA:10081374", "NCIT:C84642", "SNOMEDCT:23247008", "SNOMEDCT:60826002", "medgen:3137", "icd11.foundation:132287989", "ICD10:B38", "ICD9:114", "HP:0032249"], "information_content": 100.0}
{"id": "MONDO:0018312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histoplasmosis", "equivalent_identifiers": ["MONDO:0018312", "DOID:1731", "orphanet:390", "EFO:0007310", "UMLS:C0019655", "MESH:D006660", "MEDDRA:10020140", "MEDDRA:10020141", "MEDDRA:10020147", "MEDDRA:10020151", "MEDDRA:10021816", "NCIT:C77201", "SNOMEDCT:12962009", "medgen:42468", "icd11.foundation:1303003466", "icd11.foundation:1553838370", "ICD10:B39", "ICD9:115", "HP:0032256"], "information_content": 88.2}
{"id": "MONDO:0002332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "splenic disease", "equivalent_identifiers": ["MONDO:0002332", "DOID:2529", "EFO:0009002", "UMLS:C0037997", "MESH:D013158", "MEDDRA:10013111", "MEDDRA:10013271", "MEDDRA:10041633", "MEDDRA:10041634", "MEDDRA:10041635", "NCIT:C35823", "SNOMEDCT:51244008", "medgen:21291", "ICD10:D73", "ICD9:289.50"], "information_content": 74.6}
{"id": "MONDO:0012268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AIDS", "equivalent_identifiers": ["MONDO:0012268", "DOID:635", "EFO:0000765", "UMLS:C0001175", "MESH:D000163", "MEDDRA:10000563", "MEDDRA:10000564", "MEDDRA:10000565", "MEDDRA:10000566", "MEDDRA:10001509", "MEDDRA:10003813", "MEDDRA:10048476", "MEDDRA:10052740", "NCIT:C2851", "SNOMEDCT:62479008", "medgen:99"], "information_content": 81.3}
{"id": "MONDO:0005968", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sporotrichosis", "equivalent_identifiers": ["MONDO:0005968", "DOID:14484", "orphanet:826", "EFO:0007494", "UMLS:C0038034", "MESH:D013174", "MEDDRA:10041736", "MEDDRA:10041737", "MEDDRA:10089707", "SNOMEDCT:42094007", "medgen:21298", "icd11.foundation:579570784", "ICD10:B42", "ICD9:117.1"], "information_content": 95.4}
{"id": "MONDO:0004796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meningitis", "equivalent_identifiers": ["MONDO:0004796", "DOID:9471", "EFO:0000584", "UMLS:C0729584", "MEDDRA:10053638", "NCIT:C79598", "SNOMEDCT:312216007", "medgen:152668", "ICD9:322.9"], "information_content": 79.9}
{"id": "MONDO:0005672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blastomycosis", "equivalent_identifiers": ["MONDO:0005672", "DOID:12663", "EFO:0007174", "UMLS:C0005716", "UMLS:C0005717", "MESH:D001759", "MEDDRA:10005094", "MEDDRA:10005096", "MEDDRA:10005098", "MEDDRA:10005099", "NCIT:C34428", "NCIT:C34429", "SNOMEDCT:191950004", "SNOMEDCT:69996000", "medgen:597", "icd11.foundation:1968108845", "ICD10:B40", "ICD9:116.0"], "information_content": 95.4}
{"id": "MONDO:0005136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malaria", "equivalent_identifiers": ["MONDO:0005136", "DOID:12365", "orphanet:673", "EFO:0001068", "UMLS:C0024530", "MESH:D008288", "MEDDRA:10025487", "MEDDRA:10025489", "MEDDRA:10025497", "MEDDRA:10035499", "MEDDRA:10054147", "MEDDRA:10067345", "NCIT:C34797", "SNOMEDCT:105649009", "SNOMEDCT:248437004", "SNOMEDCT:61462000", "medgen:7443", "icd11.foundation:1439886552", "ICD10:B54", "ICD9:084"], "information_content": 84.8}
{"id": "MONDO:0000290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary amebic meningoencephalitis", "equivalent_identifiers": ["MONDO:0000290", "DOID:0050242", "UMLS:C0300934", "UMLS:C4303098", "MESH:C535275", "SNOMEDCT:721816008", "medgen:81253"], "information_content": 100.0}
{"id": "MONDO:0005381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone disorder", "equivalent_identifiers": ["MONDO:0005381", "DOID:0080001", "EFO:0004260", "UMLS:C0005940", "MESH:D001847", "MEDDRA:10005956", "MEDDRA:10005957", "MEDDRA:10005958", "MEDDRA:10013194", "SNOMEDCT:76069003", "medgen:14182", "ICD10:M89.9"], "information_content": 50.6}
{"id": "MONDO:0015908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromomycosis", "equivalent_identifiers": ["MONDO:0015908", "DOID:1562", "orphanet:182", "EFO:0007207", "UMLS:C0008582", "MESH:D002862", "MEDDRA:10008803", "SNOMEDCT:187079000", "medgen:3434", "icd11.foundation:1438584733", "ICD10:B43.9", "ICD9:117.2"], "information_content": 100.0}
{"id": "MONDO:0003085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratitis", "equivalent_identifiers": ["MONDO:0003085", "DOID:4677", "EFO:0009449", "UMLS:C0022568", "MESH:D007634", "MEDDRA:10011023", "MEDDRA:10021953", "MEDDRA:10023332", "MEDDRA:10023336", "MEDDRA:10023346", "MEDDRA:10045988", "NCIT:C26805", "SNOMEDCT:5888003", "medgen:44013", "ICD10:H16", "ICD9:370", "HP:0000491"], "information_content": 76.2}
{"id": "MONDO:0001475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia", "equivalent_identifiers": ["MONDO:0001475", "DOID:1227", "UMLS:C0027947", "UMLS:C0853697", "MESH:D009503", "MEDDRA:10029354", "MEDDRA:10029355", "MEDDRA:10029366", "MEDDRA:10029369", "MEDDRA:10029382", "NCIT:C80520", "SNOMEDCT:165517008", "SNOMEDCT:303011007", "medgen:163121", "icd11.foundation:926492960", "ICD9:288.0", "HP:0001875"], "information_content": 76.9}
{"id": "MONDO:0005845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meningoencephalitis", "equivalent_identifiers": ["MONDO:0005845", "DOID:10554", "EFO:0007364", "UMLS:C0025309", "MESH:D008590", "MEDDRA:10027282", "NCIT:C34813", "SNOMEDCT:7125002", "medgen:6301", "ICD10:A69.22"], "information_content": 95.4}
{"id": "MONDO:0005020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal disorder", "equivalent_identifiers": ["MONDO:0005020", "DOID:5295", "EFO:0009431", "UMLS:C0021831", "UMLS:C4316788", "MESH:D007410", "MEDDRA:10045793", "NCIT:C26801", "SNOMEDCT:85919009", "medgen:7130", "ICD10:K63.9", "ICD9:569.9", "HP:0002242"], "information_content": 54.7}
{"id": "MONDO:0016047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endophthalmitis", "equivalent_identifiers": ["MONDO:0016047", "DOID:4692", "orphanet:199323", "UMLS:C0014236", "MESH:D009877", "MEDDRA:10014801", "MEDDRA:10030869", "NCIT:C34586", "SNOMEDCT:128295000", "SNOMEDCT:1847009", "medgen:8633", "icd11.foundation:1211141166"], "information_content": 78.8}
{"id": "MONDO:0010621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CHILD syndrome", "equivalent_identifiers": ["MONDO:0010621", "DOID:0111822", "OMIM:308050", "orphanet:139", "UMLS:C0265267", "MESH:C562515", "MEDDRA:10081963", "MEDDRA:10081966", "SNOMEDCT:17608003", "medgen:82697"], "information_content": 100.0}
{"id": "MONDO:0005915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pityriasis versicolor", "equivalent_identifiers": ["MONDO:0005915", "DOID:9060", "EFO:0007439", "UMLS:C0040262", "MESH:D014010", "MEDDRA:10035117", "MEDDRA:10043875", "MEDDRA:10056131", "MEDDRA:10056227", "NCIT:C112833", "NCIT:C82981", "SNOMEDCT:56454009", "medgen:11826", "icd11.foundation:67108853", "ICD10:B36.0", "ICD9:111.0"], "information_content": 100.0}
{"id": "MONDO:0002234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vaginitis", "equivalent_identifiers": ["MONDO:0002234", "DOID:2170", "EFO:0005757", "UMLS:C0042267", "UMLS:C0042268", "MESH:D014627", "MEDDRA:10046916", "MEDDRA:10046950", "MEDDRA:10063128", "NCIT:C26911", "SNOMEDCT:30800001", "medgen:21815", "icd11.foundation:290861382", "ICD10:N76", "ICD9:616.1", "HP:0030683", "MP:0003541"], "information_content": 85.5}
{"id": "MONDO:0002884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nail disorder", "equivalent_identifiers": ["MONDO:0002884", "DOID:4123", "UMLS:C0027339", "UMLS:C0853087", "MESH:D009260", "MEDDRA:10013110", "MEDDRA:10013239", "MEDDRA:10028684", "MEDDRA:10028694", "MEDDRA:10028696", "MEDDRA:10045750", "SNOMEDCT:17790008", "medgen:10171", "ICD10:L60", "ICD9:703", "HP:0001597"], "information_content": 68.0}
{"id": "UniProtKB:Q96RU2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 28 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RU2-1", "PR:Q96RU2-1", "ENSEMBL:ENSP00000003302", "ENSEMBL:ENSP00000003302.4"], "information_content": 100.0}
{"id": "MONDO:0007182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Machado-Joseph disease", "equivalent_identifiers": ["MONDO:0007182", "DOID:1440", "OMIM:109150", "orphanet:98757", "UMLS:C0024408", "MESH:D017827", "NCIT:C84830", "SNOMEDCT:91952008", "medgen:9841"], "information_content": 88.2}
{"id": "MONDO:0002356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreas disorder", "equivalent_identifiers": ["MONDO:0002356", "DOID:26", "EFO:0009605", "UMLS:C0029771", "UMLS:C0030286", "UMLS:C4025751", "MESH:D010182", "MEDDRA:10013250", "MEDDRA:10033581", "MEDDRA:10033616", "MEDDRA:10033617", "MEDDRA:10045751", "NCIT:C26842", "SNOMEDCT:3855007", "medgen:14583", "ICD10:K86.8", "ICD9:577.8", "HP:0001732"], "information_content": 60.6}
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{"id": "MONDO:0005558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian disease", "equivalent_identifiers": ["MONDO:0005558", "DOID:1100", "EFO:0005771", "UMLS:C0029928", "UMLS:C4021818", "MESH:D010049", "MEDDRA:10013249", "MEDDRA:10033139", "MEDDRA:10033140", "NCIT:C26841", "SNOMEDCT:5552004", "medgen:892314", "HP:0000137"], "information_content": 57.8}
{"id": "MONDO:0003620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral nervous system disorder", "equivalent_identifiers": ["MONDO:0003620", "DOID:574", "EFO:0009387", "UMLS:C1335029", "UMLS:C4025831", "UMLS:C4721453", "MESH:D010523", "MEDDRA:10029331", "MEDDRA:10034606", "MEDDRA:10034610", "MEDDRA:10051174", "MEDDRA:10080342", "NCIT:C27580", "NCIT:C27587", "SNOMEDCT:302226006", "SNOMEDCT:42658009", "medgen:892389", "HP:0000759"], "information_content": 56.8}
{"id": "UniProtKB:P52569-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cationic amino acid transporter 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P52569-3", "PR:P52569-3", "ENSEMBL:ENSP00000004531", "ENSEMBL:ENSP00000004531.10"], "information_content": 100.0}
{"id": "MONDO:0009109", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lysinuric protein intolerance", "equivalent_identifiers": ["MONDO:0009109", "DOID:0060439", "OMIM:222700", "orphanet:470", "UMLS:C0268647", "MESH:C562687", "MEDDRA:10058300", "NCIT:C121563", "SNOMEDCT:303852004", "medgen:75704", "icd11.foundation:972050440"], "information_content": 100.0}
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{"id": "MONDO:0005068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myocardial infarction", "equivalent_identifiers": ["MONDO:0005068", "DOID:5844", "EFO:0000612", "UMLS:C0027051", "MESH:D009203", "MEDDRA:10003723", "MEDDRA:10003724", "MEDDRA:10019250", "MEDDRA:10021758", "MEDDRA:10028595", "MEDDRA:10028596", "MEDDRA:10087618", "NCIT:C27996", "SNOMEDCT:22298006", "medgen:10150", "ICD10:I21", "HP:0001658"], "information_content": 79.3}
{"id": "MONDO:0011057", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebrovascular disorder", "equivalent_identifiers": ["MONDO:0011057", "DOID:6713", "EFO:0003763", "UMLS:C0007820", "MESH:D002561", "MEDDRA:10008134", "MEDDRA:10008136", "MEDDRA:10008196", "MEDDRA:10008198", "MEDDRA:10013203", "MEDDRA:10045652", "MEDDRA:10083985", "MEDDRA:10086412", "NCIT:C2938", "SNOMEDCT:62914000", "medgen:858", "ICD10:I67.9", "ICD9:437.9"], "information_content": 70.0}
{"id": "MONDO:0005661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "babesiosis", "equivalent_identifiers": ["MONDO:0005661", "DOID:9643", "orphanet:108", "EFO:0007162", "UMLS:C0004576", "UMLS:C0276852", "MESH:D001404", "MEDDRA:10003964", "MEDDRA:10003965", "NCIT:C84581", "SNOMEDCT:21061004", "medgen:2523", "icd11.foundation:1947003329", "ICD10:B60.0", "ICD9:088.82"], "information_content": 100.0}
{"id": "MONDO:0005129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract", "equivalent_identifiers": ["MONDO:0005129", "DOID:83", "OMIM.PS:116200", "UMLS:C0029531", "UMLS:C0086543", "UMLS:C1510497", "MESH:D002386", "MEDDRA:10007739", "MEDDRA:10007757", "MEDDRA:10007768", "MEDDRA:10007771", "MEDDRA:10024208", "MEDDRA:10024214", "MEDDRA:10024215", "MEDDRA:10030347", "MEDDRA:10045649", "NCIT:C26713", "SNOMEDCT:128306009", "SNOMEDCT:193570009", "SNOMEDCT:247053007", "medgen:39462", "icd11.foundation:109841337", "ICD10:H26", "ICD9:366.8", "HP:0000518"], "information_content": 70.5}
{"id": "NCBIGene:5166", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDK4", "equivalent_identifiers": ["NCBIGene:5166", "ENSEMBL:ENSG00000004799", "HGNC:8812", "OMIM:602527", "UMLS:C1418443", "UniProtKB:A4D1H4", "UniProtKB:Q16654", "PR:Q16654", "ENSEMBL:ENSP00000005178", "ENSEMBL:ENSP00000005178.5", "UMLS:C2000214", "MESH:C000631432"], "information_content": 100.0}
{"id": "MONDO:0002177", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinism", "equivalent_identifiers": ["MONDO:0002177", "DOID:2018", "UMLS:C0020459", "MESH:D006946", "MEDDRA:10020643", "MEDDRA:10020644", "MEDDRA:10022483", "MEDDRA:10022486", "MEDDRA:10060378", "MEDDRA:10061211", "MEDDRA:10077858", "SNOMEDCT:83469008", "medgen:43779", "ICD10:E16.1", "HP:0000842"], "information_content": 78.3}
{"id": "MONDO:0024306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lactic acidosis", "equivalent_identifiers": ["MONDO:0024306", "DOID:3650", "ICD10:E87.20"], "information_content": 100.0}
{"id": "MONDO:0002654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uterine disease", "equivalent_identifiers": ["MONDO:0002654", "DOID:345", "UMLS:C0042131", "MESH:D014591", "MEDDRA:10045837", "MEDDRA:10046779", "MEDDRA:10046781", "NCIT:C26907", "SNOMEDCT:12337004", "medgen:22590", "ICD10:N85.9", "ICD9:621.9"], "information_content": 55.9}
{"id": "UniProtKB:Q9Y6N9-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "harmonin isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6N9-5", "PR:Q9Y6N9-5", "ENSEMBL:ENSP00000005226", "ENSEMBL:ENSP00000005226.7"], "information_content": 100.0}
{"id": "MONDO:0019200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa", "equivalent_identifiers": ["MONDO:0019200", "DOID:10584", "OMIM:268000", "OMIM.PS:268000", "orphanet:791", "UMLS:C0035334", "UMLS:C4551714", "MESH:D012174", "MEDDRA:10038914", "NCIT:C85045", "SNOMEDCT:28835009", "medgen:20551", "ICD10:H35.52", "HP:0000510"], "information_content": 69.6}
{"id": "MONDO:0001941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blindness", "equivalent_identifiers": ["MONDO:0001941", "DOID:1432", "UMLS:C0155020", "UMLS:C0271215", "UMLS:C0456909", "MESH:D001766", "MEDDRA:10005161", "MEDDRA:10005169", "MEDDRA:10005180", "NCIT:C97109", "SNOMEDCT:105597003", "SNOMEDCT:65956007", "medgen:99138", "ICD10:H54", "ICD9:369", "HP:0000618"], "information_content": 73.8}
{"id": "MONDO:0004588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "night blindness", "equivalent_identifiers": ["MONDO:0004588", "DOID:8499", "UMLS:C0028077", "UMLS:C4020885", "MESH:D009755", "MEDDRA:10005181", "MEDDRA:10029404", "MEDDRA:10029407", "MEDDRA:10029862", "MEDDRA:10047523", "NCIT:C34850", "SNOMEDCT:65194006", "medgen:10349", "icd11.foundation:205882698", "ICD10:H53.6", "ICD9:368.6", "HP:0000662"], "information_content": 79.6}
{"id": "MONDO:0019118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inherited retinal dystrophy", "equivalent_identifiers": ["MONDO:0019118", "DOID:8500", "DOID:8501", "orphanet:71862", "UMLS:C0154860", "UMLS:C0854723", "MESH:D058499", "MEDDRA:10019898", "MEDDRA:10019899", "MEDDRA:10019900", "MEDDRA:10038857", "NCIT:C35194", "NCIT:C35625", "SNOMEDCT:314407005", "SNOMEDCT:41799005", "medgen:208903", "ICD9:362.7", "HP:0000556"], "information_content": 61.2}
{"id": "MONDO:0010580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "equivalent_identifiers": ["MONDO:0010580", "DOID:0090110", "OMIM:304790", "orphanet:37042", "UMLS:C0342288", "UMLS:C1844663", "MESH:C580192", "MEDDRA:10080631", "MEDDRA:10080636", "NCIT:C131009", "SNOMEDCT:237618001", "SNOMEDCT:724276006", "medgen:83339", "ICD10:E31.0"], "information_content": 100.0}
{"id": "MONDO:0002643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vestibular disorder", "equivalent_identifiers": ["MONDO:0002643", "DOID:3426", "EFO:0009691", "UMLS:C0042594", "MESH:D015837", "MEDDRA:10013285", "MEDDRA:10047386", "MEDDRA:10047387", "MEDDRA:10047388", "medgen:12079", "ICD10:H81.9"], "information_content": 84.8}
{"id": "MONDO:0000455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone dystrophy", "equivalent_identifiers": ["MONDO:0000455", "DOID:0050795", "orphanet:1871", "UMLS:C0730290", "UMLS:C3665342", "MESH:D000077765", "MEDDRA:10083940", "SNOMEDCT:312917007", "medgen:676499", "HP:0008020"], "information_content": 86.3}
{"id": "MONDO:0018998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis", "equivalent_identifiers": ["MONDO:0018998", "DOID:14791", "OMIM.PS:204000", "orphanet:65", "UMLS:C0339527", "MESH:D057130", "MEDDRA:10070667", "NCIT:C129075", "SNOMEDCT:193413001", "medgen:137922", "icd11.foundation:650490256"], "information_content": 79.9}
{"id": "MONDO:0010557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroideremia", "equivalent_identifiers": ["MONDO:0010557", "DOID:9821", "OMIM:303100", "orphanet:180", "UMLS:C0008525", "MESH:D015794", "MEDDRA:10008791", "MEDDRA:10060361", "NCIT:C34469", "SNOMEDCT:75241009", "medgen:944", "icd11.foundation:217923263", "ICD10:H31.21", "ICD9:363.55", "HP:0001139"], "information_content": 92.8}
{"id": "MONDO:0015993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy", "equivalent_identifiers": ["MONDO:0015993", "DOID:0050572", "OMIM.PS:120970", "orphanet:1872", "UMLS:C4085590", "MESH:D000071700", "MEDDRA:10085521", "medgen:896366", "ICD10:H35.5", "HP:0000548"], "information_content": 76.9}
{"id": "MONDO:0015229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome", "equivalent_identifiers": ["MONDO:0015229", "DOID:1935", "OMIM.PS:209900", "orphanet:110", "UMLS:C0752166", "MESH:D020788", "MEDDRA:10048680", "MEDDRA:10056715", "NCIT:C118632", "SNOMEDCT:5619004", "medgen:156019", "icd11.foundation:255526264"], "information_content": 79.3}
{"id": "MONDO:0018094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome", "equivalent_identifiers": ["MONDO:0018094", "DOID:9258", "OMIM.PS:193500", "orphanet:3440", "UMLS:C3266898", "MESH:D014849", "MEDDRA:10069203", "NCIT:C85222", "SNOMEDCT:47434006", "SNOMEDCT:715952000", "medgen:473809", "icd11.foundation:304883627"], "information_content": 82.6}
{"id": "MONDO:0007301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebrocostomandibular syndrome", "equivalent_identifiers": ["MONDO:0007301", "DOID:0111248", "OMIM:117650", "orphanet:1393", "UMLS:C0265342", "MESH:C562538", "MEDDRA:10088264", "SNOMEDCT:51780007", "medgen:120537", "icd11.foundation:1475063064"], "information_content": 100.0}
{"id": "MONDO:0009211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital factor VII deficiency", "equivalent_identifiers": ["MONDO:0009211", "DOID:2215", "OMIM:227500", "orphanet:327", "UMLS:C0272320", "NCIT:C131631", "NCIT:C98939", "SNOMEDCT:40855001", "medgen:473015", "ICD10:D68.2"], "information_content": 90.9}
{"id": "MONDO:0003005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Macular Edema", "equivalent_identifiers": ["MONDO:0003005", "DOID:4449", "UMLS:C0271051", "MESH:D008269", "MEDDRA:10025415", "MEDDRA:10054467", "NCIT:C35468", "SNOMEDCT:37231002", "medgen:75732", "HP:0040049"], "information_content": 92.8}
{"id": "MONDO:0007804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pallister-Hall syndrome", "equivalent_identifiers": ["MONDO:0007804", "DOID:9248", "OMIM:146510", "orphanet:672", "UMLS:C0265220", "MESH:D054975", "MEDDRA:10089178", "NCIT:C84987", "SNOMEDCT:56677004", "medgen:120514", "icd11.foundation:1845613381"], "information_content": 95.4}
{"id": "MONDO:0004758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scotoma", "equivalent_identifiers": ["MONDO:0004758", "DOID:9335", "UMLS:C0029657", "UMLS:C0036454", "UMLS:C0344233", "MESH:D012607", "MEDDRA:10039729", "NCIT:C118737", "SNOMEDCT:23388006", "SNOMEDCT:81016008", "medgen:19902", "ICD10:H53.42", "ICD10:H53.45", "ICD9:368.42", "ICD9:368.44", "HP:0000575"], "information_content": 86.3}
{"id": "MONDO:0008965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CHARGE syndrome", "equivalent_identifiers": ["MONDO:0008965", "DOID:0050834", "OMIM:214800", "orphanet:138", "UMLS:C0265354", "UMLS:C2936502", "MESH:D058747", "MEDDRA:10064063", "NCIT:C75100", "SNOMEDCT:47535005", "medgen:75567", "icd11.foundation:52086532"], "information_content": 100.0}
{"id": "MONDO:0018105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolfram syndrome", "equivalent_identifiers": ["MONDO:0018105", "DOID:10632", "orphanet:3463", "UMLS:C0043207", "MESH:D014929", "MEDDRA:10078338", "MEDDRA:10078339", "NCIT:C35133", "SNOMEDCT:70694009", "medgen:21923", "icd11.foundation:151381747"], "information_content": 90.9}
{"id": "MONDO:0018484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "semicircular canal dehiscence syndrome", "equivalent_identifiers": ["MONDO:0018484", "DOID:0080193", "orphanet:420402", "UMLS:C3275929", "UMLS:C4708600", "MESH:D000084322", "MEDDRA:10079888", "SNOMEDCT:717799003", "SNOMEDCT:768933005", "medgen:1642474"], "information_content": 100.0}
{"id": "MONDO:0004579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinoschisis", "equivalent_identifiers": ["MONDO:0004579", "DOID:8465", "UMLS:C0152439", "MESH:D041441", "MEDDRA:10038939", "MEDDRA:10038940", "MEDDRA:10061492", "NCIT:C85046", "SNOMEDCT:44268007", "medgen:56292", "icd11.foundation:1118046584", "ICD10:H33.10", "ICD9:361.10", "HP:0030502"], "information_content": 88.2}
{"id": "MONDO:0017278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune polyendocrinopathy", "equivalent_identifiers": ["MONDO:0017278", "DOID:14040", "orphanet:282196", "UMLS:C0085409", "UMLS:C4316913", "MESH:D016884", "NCIT:C129726", "NCIT:C84576", "SNOMEDCT:41864002", "medgen:39042", "icd11.foundation:548357900"], "information_content": 89.4}
{"id": "MONDO:0009079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DOORS syndrome", "equivalent_identifiers": ["MONDO:0009079", "DOID:0111627", "OMIM:220500", "orphanet:79500", "UMLS:C0795927", "UMLS:C0795934", "MESH:C538204", "MESH:C563052", "MEDDRA:10080835", "SNOMEDCT:719800009", "medgen:208648"], "information_content": 100.0}
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{"id": "MONDO:0005383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "panic disorder", "equivalent_identifiers": ["MONDO:0005383", "DOID:594", "EFO:0004262", "UMLS:C0030319", "MESH:D016584", "MEDDRA:10033666", "MEDDRA:10033667", "NCIT:C34890", "SNOMEDCT:371631005", "medgen:14588", "icd11.foundation:56162827", "ICD10:F41.0"], "information_content": 87.2}
{"id": "MONDO:0013291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease XV", "equivalent_identifiers": ["MONDO:0013291", "DOID:0050579", "OMIM:613507", "orphanet:263297", "UMLS:C3150754", "UMLS:C4303568", "SNOMEDCT:717821004", "medgen:462104"], "information_content": 100.0}
{"id": "NCBIGene:1856", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DVL2", "equivalent_identifiers": ["NCBIGene:1856", "ENSEMBL:ENSG00000004975", "HGNC:3086", "OMIM:602151", "UMLS:C1414201", "UniProtKB:O14641", "PR:O14641", "ENSEMBL:ENSP00000005340", "ENSEMBL:ENSP00000005340.4", "UMLS:C4307951", "MESH:C000606581"], "information_content": 85.5}
{"id": "MONDO:0018075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neural tube defect", "equivalent_identifiers": ["MONDO:0018075", "DOID:0080074", "orphanet:3388", "UMLS:C0027794", "MESH:D009436", "MEDDRA:10052046", "NCIT:C84923", "SNOMEDCT:253098009", "medgen:18009", "HP:0045005"], "information_content": 75.3}
{"id": "MONDO:0019978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Robinow syndrome", "equivalent_identifiers": ["MONDO:0019978", "DOID:0060254", "OMIM.PS:268310", "orphanet:97360", "UMLS:C0265205", "MESH:C562492", "MEDDRA:10084325", "NCIT:C85048", "medgen:78535", "icd11.foundation:1010745722", "ICD10:Q87.19"], "information_content": 87.2}
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{"id": "UniProtKB:Q9H6T3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA polymerase II-associated protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6T3-1", "PR:Q9H6T3-1", "ENSEMBL:ENSP00000005386", "ENSEMBL:ENSP00000005386.3"], "information_content": 100.0}
{"id": "MONDO:0016575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia", "equivalent_identifiers": ["MONDO:0016575", "DOID:0050144", "DOID:50144", "DOID:9562", "OMIM.PS:244400", "orphanet:244", "EFO:1001352", "UMLS:C0008780", "UMLS:C0022521", "UMLS:C4317124", "UMLS:C4551720", "MESH:D002925", "MESH:D007619", "MEDDRA:10023299", "MEDDRA:10060882", "MEDDRA:10069713", "NCIT:C84638", "NCIT:C84797", "SNOMEDCT:42402006", "SNOMEDCT:86204009", "medgen:3467", "icd11.foundation:1713839459", "HP:0012265"], "information_content": 73.0}
{"id": "MONDO:0008061", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nail-patella syndrome", "equivalent_identifiers": ["MONDO:0008061", "DOID:9467", "OMIM:161200", "orphanet:2614", "UMLS:C0027341", "MESH:D009261", "MEDDRA:10060903", "MEDDRA:10063431", "NCIT:C75120", "SNOMEDCT:22199006", "medgen:10257", "icd11.foundation:1121867410"], "information_content": 100.0}
{"id": "MONDO:0005978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "theileriasis", "equivalent_identifiers": ["MONDO:0005978", "DOID:3733", "EFO:0007506", "UMLS:C0039753", "MESH:D013801", "SNOMEDCT:68771000", "medgen:11763"], "information_content": 100.0}
{"id": "MONDO:0010287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 16", "equivalent_identifiers": ["MONDO:0010287", "DOID:0110769", "OMIM:300266", "orphanet:100997", "UMLS:C1846046", "MESH:C536643", "SNOMEDCT:783697000", "medgen:375796"], "information_content": 100.0}
{"id": "NCBIGene:8935", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SKAP2", "equivalent_identifiers": ["NCBIGene:8935", "ENSEMBL:ENSG00000005020", "HGNC:15687", "OMIM:605215", "UMLS:C1822731", "UniProtKB:B7Z5R3", "UniProtKB:O75563", "PR:O75563", "ENSEMBL:ENSP00000005587", "ENSEMBL:ENSP00000005587.2", "UMLS:C1740186"], "information_content": 84.2}
{"id": "MONDO:0012719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined PSAP deficiency", "equivalent_identifiers": ["MONDO:0012719", "DOID:0111330", "OMIM:611721", "orphanet:139406", "UMLS:C2673635", "UMLS:C4303785", "MESH:C567125", "SNOMEDCT:720864008", "medgen:382151"], "information_content": 100.0}
{"id": "MONDO:0007698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hand-foot-genital syndrome", "equivalent_identifiers": ["MONDO:0007698", "DOID:0060739", "OMIM:140000", "orphanet:2438", "UMLS:C1841679", "MESH:C535627", "MEDDRA:10072361", "SNOMEDCT:702425002", "medgen:331103", "ICD10:Q51.2"], "information_content": 100.0}
{"id": "MONDO:0000726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic scoliosis", "equivalent_identifiers": ["MONDO:0000726", "DOID:0060250", "UMLS:C0595995", "SNOMEDCT:203639008", "medgen:671079"], "information_content": 86.3}
{"id": "UniProtKB:Q9Y6M0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testisin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6M0-1", "PR:Q9Y6M0-1", "ENSEMBL:ENSP00000005995", "ENSEMBL:ENSP00000005995.3"], "information_content": 100.0}
{"id": "MONDO:0002329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular disorder", "equivalent_identifiers": ["MONDO:0002329", "DOID:2519", "EFO:0009601", "UMLS:C0039584", "UMLS:C1536496", "MESH:D013733", "MEDDRA:10013273", "MEDDRA:10043306", "MEDDRA:10043307", "MEDDRA:10043361", "NCIT:C26890", "SNOMEDCT:236763001", "SNOMEDCT:64910008", "medgen:11743"], "information_content": 64.8}
{"id": "NCBIGene:3207", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXA11", "equivalent_identifiers": ["NCBIGene:3207", "ENSEMBL:ENSG00000005073", "HGNC:5101", "OMIM:142958", "UMLS:C1415654", "UniProtKB:P31270", "PR:P31270", "ENSEMBL:ENSP00000006015", "ENSEMBL:ENSP00000006015.3", "UMLS:C1435935", "UMLS:C3273497", "MESH:C484298"], "information_content": 95.4}
{"id": "MONDO:0017985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital radioulnar synostosis", "equivalent_identifiers": ["MONDO:0017985", "DOID:9827", "orphanet:3269", "UMLS:C0158761", "MESH:C562408", "MEDDRA:10037798", "SNOMEDCT:33313004", "medgen:57861", "icd11.foundation:1098526181", "ICD9:755.53", "HP:0002974"], "information_content": 89.4}
{"id": "MONDO:0017771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mayer-Rokitansky-Kuster-Hauser syndrome", "equivalent_identifiers": ["MONDO:0017771", "DOID:0112177", "orphanet:3109", "UMLS:C0431648", "MEDDRA:10065148", "NCIT:C124853", "SNOMEDCT:1354648006", "SNOMEDCT:8793008", "medgen:140915"], "information_content": 92.8}
{"id": "MONDO:0003061", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoma", "equivalent_identifiers": ["MONDO:0003061", "DOID:2691", "DOID:461", "UMLS:C0027086", "MESH:D009214", "MEDDRA:10048613", "MEDDRA:10061692", "MEDDRA:10074632", "NCIT:C4882", "SNOMEDCT:1156875002", "SNOMEDCT:92237006", "medgen:10236", "ICD10:D21", "HP:0031460"], "information_content": 68.9}
{"id": "MONDO:0008301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Guttmacher syndrome", "equivalent_identifiers": ["MONDO:0008301", "DOID:0111544", "OMIM:176305", "orphanet:2957", "UMLS:C1867801", "MESH:C538278", "SNOMEDCT:722452004", "medgen:401304"], "information_content": 100.0}
{"id": "MONDO:0002049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia", "equivalent_identifiers": ["MONDO:0002049", "DOID:1588", "UMLS:C0040034", "UMLS:C0392386", "UMLS:C5201036", "MESH:D013921", "MEDDRA:10024922", "MEDDRA:10035528", "MEDDRA:10035529", "MEDDRA:10035545", "MEDDRA:10038213", "MEDDRA:10043546", "MEDDRA:10043554", "MEDDRA:10043555", "MEDDRA:10043560", "MEDDRA:10043569", "NCIT:C162108", "NCIT:C203448", "NCIT:C3408", "SNOMEDCT:302215000", "SNOMEDCT:415116008", "medgen:52737", "icd11.foundation:683583694", "ICD10:D69.6", "ICD9:287.5", "HP:0001873"], "information_content": 66.0}
{"id": "MONDO:0007886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uterine fibroid", "equivalent_identifiers": ["MONDO:0007886", "DOID:13223", "OMIM:150699", "EFO:0000731", "UMLS:C0042133", "UMLS:C2242776", "MEDDRA:10024186", "MEDDRA:10046783", "MEDDRA:10046784", "MEDDRA:10046787", "MEDDRA:10046798", "MEDDRA:10046801", "MEDDRA:10081129", "NCIT:C3434", "SNOMEDCT:44598004", "SNOMEDCT:95315005", "medgen:21801", "ICD10:D25", "ICD9:218", "HP:0000131"], "information_content": 79.9}
{"id": "MONDO:0003225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone marrow disorder", "equivalent_identifiers": ["MONDO:0003225", "DOID:4961", "UMLS:C0005956", "UMLS:C4021634", "MESH:D001855", "MEDDRA:10050910", "MEDDRA:10061729", "NCIT:C34433", "SNOMEDCT:127035006", "medgen:892905", "HP:0005561"], "information_content": 55.6}
{"id": "MONDO:0019719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CAKUT", "equivalent_identifiers": ["MONDO:0019719", "DOID:0080205", "OMIM.PS:610805", "orphanet:93545", "UMLS:C1968949", "MESH:C566906", "medgen:369894"], "information_content": 90.9}
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{"id": "MONDO:0002635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periodontal disorder", "equivalent_identifiers": ["MONDO:0002635", "DOID:3388", "UMLS:C0031090", "MESH:D010510", "MEDDRA:10034536", "MEDDRA:10034537", "NCIT:C63743", "SNOMEDCT:2556008", "medgen:10658", "ICD10:K05.6"], "information_content": 74.1}
{"id": "MONDO:0005160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic aneurysm", "equivalent_identifiers": ["MONDO:0005160", "DOID:3627", "EFO:0001666", "UMLS:C0003486", "UMLS:C0265004", "UMLS:C0265010", "UMLS:C0265012", "UMLS:C0741160", "UMLS:C1305122", "MESH:D001014", "MEDDRA:10000053", "MEDDRA:10002330", "MEDDRA:10002339", "MEDDRA:10002882", "MEDDRA:10002884", "MEDDRA:10002886", "MEDDRA:10043464", "MEDDRA:10043481", "MEDDRA:10051355", "MEDDRA:10057453", "MEDDRA:10058293", "NCIT:C187666", "NCIT:C196716", "NCIT:C26697", "NCIT:C27046", "NCIT:C27198", "NCIT:C27299", "SNOMEDCT:14336007", "SNOMEDCT:195258006", "SNOMEDCT:195265003", "SNOMEDCT:26660001", "SNOMEDCT:67362008", "SNOMEDCT:73067008", "medgen:362", "ICD10:I71.1", "ICD10:I71.3", "ICD10:I71.5", "ICD10:I71.8", "ICD10:I71.9", "ICD9:441.1", "ICD9:441.3", "ICD9:441.5", "ICD9:441.6", "HP:0004942"], "information_content": 81.7}
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{"id": "MONDO:0019369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex regional pain syndrome", "equivalent_identifiers": ["MONDO:0019369", "DOID:3223", "orphanet:83452", "EFO:1001998", "UMLS:C0458219", "MESH:D020918", "MEDDRA:10064332", "SNOMEDCT:128200000", "medgen:96846", "icd11.foundation:1834504950"], "information_content": 90.9}
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{"id": "MONDO:0001711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatic encephalopathy", "equivalent_identifiers": ["MONDO:0001711", "DOID:13413", "UMLS:C0019151", "MESH:D006501", "MEDDRA:10014630", "MEDDRA:10019660", "NCIT:C79596", "SNOMEDCT:13920009", "SNOMEDCT:449902003", "medgen:5513", "icd11.foundation:1769383160", "ICD10:K76.82", "ICD9:572.2", "HP:0002480"], "information_content": 95.4}
{"id": "UniProtKB:O75865-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trafficking protein particle complex subunit 6A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75865-2", "PR:O75865-2", "ENSEMBL:ENSP00000006275", "ENSEMBL:ENSP00000006275.3"], "information_content": 100.0}
{"id": "MONDO:0016761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia", "equivalent_identifiers": ["MONDO:0016761", "DOID:0112280", "UMLS:C0038015", "medgen:20916", "HP:0002655"], "information_content": 71.9}
{"id": "MONDO:0001564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "binocular vision disease", "equivalent_identifiers": ["MONDO:0001564", "DOID:12667", "EFO:0009535", "UMLS:C0005461", "MEDDRA:10004718", "NCIT:C34422", "SNOMEDCT:83275001", "medgen:571", "ICD10:H53.30", "ICD9:368.30"], "information_content": 95.4}
{"id": "UniProtKB:Q8TB22-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis-associated protein 20 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TB22-2", "PR:Q8TB22-2", "ENSEMBL:ENSP00000006658", "ENSEMBL:ENSP00000006658.6"], "information_content": 100.0}
{"id": "MONDO:0006699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choledocholithiasis", "equivalent_identifiers": ["MONDO:0006699", "DOID:11755", "EFO:1000865", "UMLS:C0701818", "MESH:D042883", "MEDDRA:10049891", "medgen:148784"], "information_content": 100.0}
{"id": "UniProtKB:Q14002-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell adhesion molecule CEACAM7 isoform h2a (human)", "equivalent_identifiers": ["UniProtKB:Q14002-1", "PR:Q14002-1", "ENSEMBL:ENSP00000006724", "ENSEMBL:ENSP00000006724.3", "ENSEMBL:ENSP00000385932", "ENSEMBL:ENSP00000385932.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6NTF9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rhomboid domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NTF9-1", "PR:Q6NTF9-1", "ENSEMBL:ENSP00000006777", "ENSEMBL:ENSP00000006777.6"], "information_content": 100.0}
{"id": "MONDO:0004808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign mammary dysplasia", "equivalent_identifiers": ["MONDO:0004808", "DOID:9504", "UMLS:C0156319", "UMLS:C1305934", "MEDDRA:10004285", "MEDDRA:10004286", "MEDDRA:10006238", "MEDDRA:10026731", "SNOMEDCT:57993004", "medgen:726820", "ICD9:610.8"], "information_content": 100.0}
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{"id": "MONDO:0008879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bowen-Conradi syndrome", "equivalent_identifiers": ["MONDO:0008879", "DOID:0050684", "OMIM:211180", "orphanet:1270", "UMLS:C1859405", "MESH:C537081", "SNOMEDCT:711153001", "medgen:349160", "icd11.foundation:1713786719"], "information_content": 100.0}
{"id": "MONDO:0000127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "geleophysic dysplasia", "equivalent_identifiers": ["MONDO:0000127", "DOID:0111724", "OMIM.PS:231050", "orphanet:2623", "UMLS:C3489726", "MEDDRA:10063361", "SNOMEDCT:28557005", "medgen:483679", "icd11.foundation:518828851"], "information_content": 90.9}
{"id": "MONDO:0009856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peters plus syndrome", "equivalent_identifiers": ["MONDO:0009856", "DOID:0080201", "OMIM:261540", "orphanet:709", "UMLS:C0796012", "MESH:C537617", "NCIT:C123436", "SNOMEDCT:449817000", "medgen:163204"], "information_content": 100.0}
{"id": "MONDO:0005405", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood onset asthma", "equivalent_identifiers": ["MONDO:0005405", "DOID:0080815", "UMLS:C0264408", "MEDDRA:10081274", "SNOMEDCT:233678006", "medgen:538550"], "information_content": 95.4}
{"id": "UniProtKB:Q9BZF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxysterol-binding protein-related protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZF2-1", "PR:Q9BZF2-1", "ENSEMBL:ENSP00000007414", "ENSEMBL:ENSP00000007414.3"], "information_content": 100.0}
{"id": "MONDO:0018965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alport syndrome", "equivalent_identifiers": ["MONDO:0018965", "DOID:10983", "OMIM.PS:301050", "orphanet:63", "UMLS:C1567741", "MEDDRA:10001843", "NCIT:C34842", "SNOMEDCT:770414008", "medgen:339209", "icd11.foundation:1170919425"], "information_content": 88.2}
{"id": "MONDO:0002794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult medulloblastoma", "equivalent_identifiers": ["MONDO:0002794", "DOID:3864", "UMLS:C0278876", "NCIT:C4011", "medgen:78898"], "information_content": 100.0}
{"id": "MONDO:0007892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lenz-Majewski hyperostotic dwarfism", "equivalent_identifiers": ["MONDO:0007892", "DOID:0111507", "OMIM:151050", "orphanet:2658", "UMLS:C0432269", "MESH:C537115", "SNOMEDCT:1393001", "medgen:98483", "icd11.foundation:1509425242"], "information_content": 100.0}
{"id": "NCBIGene:51087", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YBX2", "equivalent_identifiers": ["NCBIGene:51087", "ENSEMBL:ENSG00000006047", "HGNC:17948", "OMIM:611447", "UMLS:C1823884", "UniProtKB:A0A384MDP4", "UMLS:C1449202", "MESH:C485481", "UniProtKB:Q9Y2T7", "PR:Q9Y2T7", "ENSEMBL:ENSP00000007699", "ENSEMBL:ENSP00000007699.5", "ENSEMBL:ENSP00000499890", "ENSEMBL:ENSP00000499890.1"], "information_content": 100.0}
{"id": "MONDO:0005387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ovarian failure", "equivalent_identifiers": ["MONDO:0005387", "DOID:5426", "EFO:0004266", "UMLS:C0085215", "UMLS:C0948896", "MESH:D016649", "MEDDRA:10033168", "MEDDRA:10036602", "MEDDRA:10036721", "MEDDRA:10052649", "MEDDRA:10052660", "MEDDRA:10075905", "NCIT:C113348", "NCIT:C113352", "SNOMEDCT:370999003", "SNOMEDCT:65846009", "medgen:38820", "ICD10:E28.3", "HP:0000815"], "information_content": 71.1}
{"id": "NCBIGene:3883", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT33A", "equivalent_identifiers": ["NCBIGene:3883", "ENSEMBL:ENSG00000006059", "HGNC:6450", "OMIM:602761", "UMLS:C1825748", "UniProtKB:O76009", "PR:O76009", "ENSEMBL:ENSP00000007735", "ENSEMBL:ENSP00000007735.3", "ENSEMBL:ENSP00000461221", "ENSEMBL:ENSP00000461221.1", "ENSEMBL:ENSP00000517782", "ENSEMBL:ENSP00000517782.1", "UMLS:C1685350", "MESH:C507594"], "information_content": 100.0}
{"id": "NCBIGene:83741", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TFAP2D", "equivalent_identifiers": ["NCBIGene:83741", "ENSEMBL:ENSG00000008197", "HGNC:15581", "OMIM:610161", "UMLS:C1539951", "UniProtKB:Q7Z6R9", "PR:Q7Z6R9", "ENSEMBL:ENSP00000008391", "ENSEMBL:ENSP00000008391.4", "UMLS:C1121064", "MESH:C449675"], "information_content": 92.8}
{"id": "MONDO:0007235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branchiooculofacial syndrome", "equivalent_identifiers": ["MONDO:0007235", "DOID:0050691", "OMIM:113620", "orphanet:1297", "UMLS:C0376524", "SNOMEDCT:449821007", "medgen:91261"], "information_content": 100.0}
{"id": "MONDO:0011827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patent ductus arteriosus", "equivalent_identifiers": ["MONDO:0011827", "DOID:13832", "OMIM.PS:607411", "UMLS:C0013274", "MESH:D004374", "MEDDRA:10013807", "MEDDRA:10034130", "NCIT:C84492", "SNOMEDCT:83330001", "medgen:4415", "ICD10:Q25.0", "ICD9:747.0", "HP:0001643"], "information_content": 89.4}
{"id": "NCBIGene:1407", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRY1", "equivalent_identifiers": ["NCBIGene:1407", "ENSEMBL:ENSG00000008405", "HGNC:2384", "OMIM:601933", "UMLS:C1413724", "UniProtKB:A2I2P0", "UMLS:C1506396", "MESH:C538963", "UniProtKB:Q16526", "PR:Q16526", "ENSEMBL:ENSP00000008527", "ENSEMBL:ENSP00000008527.5", "UMLS:C0288450"], "information_content": 89.4}
{"id": "MONDO:0005302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "attention deficit hyperactivity disorder, inattentive type", "equivalent_identifiers": ["MONDO:0005302", "DOID:1094", "UMLS:C0041671", "UMLS:C0339002", "UMLS:C1263846", "UMLS:C1321905", "MESH:D001289", "MEDDRA:10003731", "MEDDRA:10003733", "MEDDRA:10003734", "MEDDRA:10003735", "MEDDRA:10003736", "MEDDRA:10003737", "MEDDRA:10020555", "MEDDRA:10020658", "MEDDRA:10020659", "MEDDRA:10027642", "MEDDRA:10042816", "MEDDRA:10064104", "MEDDRA:10068452", "MEDDRA:10068453", "MEDDRA:10083622", "NCIT:C35092", "SNOMEDCT:35253001", "SNOMEDCT:406506008", "SNOMEDCT:7461003", "medgen:473060", "HP:0007018"], "information_content": 95.4}
{"id": "MONDO:0005451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eating disorder", "equivalent_identifiers": ["MONDO:0005451", "DOID:8670", "EFO:0005203", "UMLS:C0013473", "UMLS:C4042784", "MESH:D001068", "MEDDRA:10014062", "MEDDRA:10014066", "MEDDRA:10014067", "NCIT:C89332", "SNOMEDCT:72366004", "medgen:4434", "ICD10:F50", "ICD9:307.50"], "information_content": 67.4}
{"id": "MONDO:0005391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Restless legs", "equivalent_identifiers": ["MONDO:0005391", "DOID:0050425", "EFO:0004270", "UMLS:C0035258", "MESH:D012148", "MEDDRA:10024183", "MEDDRA:10038741", "MEDDRA:10038742", "MEDDRA:10042841", "MEDDRA:10058920", "MEDDRA:10080298", "MEDDRA:10083511", "NCIT:C84501", "SNOMEDCT:32914008", "medgen:48427", "icd11.foundation:1254916765", "ICD10:G25.81", "ICD9:333.94", "HP:0012452"], "information_content": 84.8}
{"id": "MONDO:0019600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum", "equivalent_identifiers": ["MONDO:0019600", "DOID:0050427", "orphanet:910", "UMLS:C0043346", "MESH:D014983", "MEDDRA:10048220", "NCIT:C3452", "SNOMEDCT:44600005", "medgen:21943", "icd11.foundation:1243068849", "ICD10:Q82.1"], "information_content": 78.5}
{"id": "NCBIGene:8993", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGLYRP1", "equivalent_identifiers": ["NCBIGene:8993", "ENSEMBL:ENSG00000008438", "HGNC:8904", "OMIM:604963", "UMLS:C1418515", "UniProtKB:O75594", "PR:O75594", "ENSEMBL:ENSP00000008938", "ENSEMBL:ENSP00000008938.3", "UMLS:C1452514", "MESH:C491878"], "information_content": 86.3}
{"id": "MONDO:0006849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mastitis", "equivalent_identifiers": ["MONDO:0006849", "DOID:10690", "EFO:1001034", "UMLS:C0024894", "MESH:D008413", "MEDDRA:10006262", "MEDDRA:10026883", "MEDDRA:10073963", "NCIT:C53662", "SNOMEDCT:45198002", "medgen:9901", "HP:0040407"], "information_content": 95.4}
{"id": "MONDO:0005249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pneumonia", "equivalent_identifiers": ["MONDO:0005249", "DOID:552", "EFO:0003106", "UMLS:C0032285", "MESH:D011014", "MEDDRA:10035664", "MEDDRA:10035725", "MEDDRA:10059809", "MEDDRA:10077942", "NCIT:C3333", "SNOMEDCT:233604007", "medgen:10813", "icd11.foundation:142052508", "HP:0002090"], "information_content": 75.7}
{"id": "MONDO:0019632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lyme disease", "equivalent_identifiers": ["MONDO:0019632", "DOID:11729", "orphanet:91546", "EFO:0008510", "UMLS:C0024198", "UMLS:C0752235", "UMLS:C5779706", "MESH:D008193", "MESH:D020852", "MEDDRA:10006036", "MEDDRA:10025169", "MEDDRA:10025170", "MEDDRA:10067559", "NCIT:C45161", "SNOMEDCT:1269516003", "SNOMEDCT:23502006", "SNOMEDCT:48982009", "SNOMEDCT:715507005", "medgen:44213", "icd11.foundation:1600014919", "ICD10:A69.2", "ICD9:088.81"], "information_content": 88.2}
{"id": "MONDO:0004389", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mite infestation", "equivalent_identifiers": ["MONDO:0004389", "DOID:7894", "UMLS:C0026229", "UMLS:C1290826", "MESH:D008924", "MEDDRA:10000351", "MEDDRA:10000352", "MEDDRA:10000354", "SNOMEDCT:187214007", "SNOMEDCT:240885009", "medgen:7661", "ICD10:B88.9", "ICD9:133"], "information_content": 90.9}
{"id": "MONDO:0005076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periodontitis", "equivalent_identifiers": ["MONDO:0005076", "DOID:824", "DOID:9893", "EFO:0000649", "UMLS:C0031099", "UMLS:C0600298", "MESH:D010518", "MEDDRA:10034539", "MEDDRA:10034540", "NCIT:C34918", "SNOMEDCT:41565005", "medgen:45815", "ICD10:K05.3", "ICD10:K05.4", "ICD9:523.5", "HP:0000704"], "information_content": 83.1}
{"id": "MONDO:0002508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gingivitis", "equivalent_identifiers": ["MONDO:0002508", "DOID:3087", "UMLS:C0017574", "UMLS:C0155937", "MESH:D005891", "MEDDRA:10000787", "MEDDRA:10018292", "MEDDRA:10021956", "MEDDRA:10072575", "NCIT:C34636", "SNOMEDCT:31642005", "SNOMEDCT:66383009", "medgen:4895", "ICD10:K05.0", "ICD10:K05.1", "ICD10:K05.10", "ICD9:523.0", "ICD9:523.1", "HP:0000230"], "information_content": 82.6}
{"id": "MONDO:0017941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chikungunya", "equivalent_identifiers": ["MONDO:0017941", "DOID:0050012", "orphanet:324625", "EFO:0008494", "UMLS:C0008055", "MESH:D065632", "MEDDRA:10067256", "NCIT:C128422", "SNOMEDCT:111864006", "medgen:3362", "icd11.foundation:900389391"], "information_content": 100.0}
{"id": "MONDO:0019633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "relapsing fever", "equivalent_identifiers": ["MONDO:0019633", "DOID:13034", "orphanet:91547", "UMLS:C0035021", "MESH:D012061", "MEDDRA:10038300", "MEDDRA:10046134", "SNOMEDCT:420079008", "medgen:48397", "icd11.foundation:965498095", "ICD10:A68", "ICD9:087"], "information_content": 92.8}
{"id": "MONDO:0005828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "listeriosis", "equivalent_identifiers": ["MONDO:0005828", "DOID:11573", "orphanet:533", "EFO:0007347", "UMLS:C0023860", "UMLS:C5886852", "MESH:D008088", "MEDDRA:10024638", "MEDDRA:10024639", "MEDDRA:10024640", "MEDDRA:10024641", "NCIT:C82994", "SNOMEDCT:4241002", "SNOMEDCT:721739005", "medgen:9788", "icd11.foundation:419706488", "ICD10:A32", "ICD9:027.0"], "information_content": 89.4}
{"id": "UniProtKB:O95772-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "STARD3 N-terminal-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95772-1", "PR:O95772-1", "ENSEMBL:ENSP00000009041", "ENSEMBL:ENSP00000009041.7", "ENSEMBL:ENSP00000379334", "ENSEMBL:ENSP00000379334.1"], "information_content": 100.0}
{"id": "MONDO:0012077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 8", "equivalent_identifiers": ["MONDO:0012077", "DOID:0050752", "OMIM:608627", "UMLS:C1837728", "MESH:C563895", "NCIT:C168751", "SNOMEDCT:1204350002", "medgen:325237"], "information_content": 100.0}
{"id": "UniProtKB:P04233-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HLA class II histocompatibility antigen gamma chain isoform hp45 (human)", "equivalent_identifiers": ["UniProtKB:P04233-1", "PR:P04233-1", "ENSEMBL:ENSP00000009530", "ENSEMBL:ENSP00000009530.7"], "information_content": 100.0}
{"id": "MONDO:0005151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endocrine system disorder", "equivalent_identifiers": ["MONDO:0005151", "DOID:28", "EFO:0001379", "UMLS:C0014130", "UMLS:C4025823", "MESH:D004700", "MEDDRA:10013217", "MEDDRA:10014695", "MEDDRA:10014697", "MEDDRA:10014698", "MEDDRA:10045863", "NCIT:C3009", "SNOMEDCT:362969004", "medgen:4043", "ICD10:E34.9", "ICD9:259.9", "HP:0000818"], "information_content": 50.8}
{"id": "MONDO:0000812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal disease", "equivalent_identifiers": ["MONDO:0000812", "DOID:0060564", "UMLS:C0037933", "MESH:D013122", "MEDDRA:10041565", "MEDDRA:10061368", "MEDDRA:10070759", "SNOMEDCT:699699005", "medgen:52455"], "information_content": 75.0}
{"id": "UniProtKB:Q8TAV0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM76A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAV0-3", "PR:Q8TAV0-3", "ENSEMBL:ENSP00000010299", "ENSEMBL:ENSP00000010299.6"], "information_content": 100.0}
{"id": "MONDO:0014358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0014358", "DOID:0070055", "OMIM:615829", "orphanet:412069", "EFO:0009015", "UMLS:C4014419", "UMLS:C5436345", "NCIT:C192092", "SNOMEDCT:774068004", "medgen:862856"], "information_content": 100.0}
{"id": "NCBIGene:1357", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPA1", "equivalent_identifiers": ["NCBIGene:1357", "ENSEMBL:ENSG00000091704", "HGNC:2296", "OMIM:114850", "UMLS:C1413662", "UniProtKB:P15085", "PR:P15085", "ENSEMBL:ENSP00000011292", "ENSEMBL:ENSP00000011292.3", "UMLS:C5441897"], "information_content": 84.8}
{"id": "MONDO:0009831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant pancreatic neoplasm", "equivalent_identifiers": ["MONDO:0009831", "DOID:1793", "EFO:1000359", "UMLS:C0153458", "UMLS:C0153459", "UMLS:C0153460", "UMLS:C0153463", "MEDDRA:10007071", "MEDDRA:10025762", "MEDDRA:10025954", "MEDDRA:10026521", "NCIT:C194089", "NCIT:C194090", "NCIT:C194091", "NCIT:C9005", "SNOMEDCT:187791002", "SNOMEDCT:187792009", "SNOMEDCT:363419009", "ICD10:C25.0", "ICD10:C25.1", "ICD10:C25.2", "ICD9:157.0", "ICD9:157.1", "ICD9:157.2", "ICD9:157.8", "KEGG.DISEASE:05212"], "information_content": 65.9}
{"id": "MONDO:0009832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic agenesis", "equivalent_identifiers": ["MONDO:0009832", "DOID:0050877", "OMIM.PS:260370", "orphanet:2805", "UMLS:C1850096", "UMLS:C4305001", "UMLS:C5195568", "MESH:C564908", "SNOMEDCT:719044008", "medgen:1681783", "icd11.foundation:634711891"], "information_content": 89.4}
{"id": "MONDO:0004993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carcinoma", "equivalent_identifiers": ["MONDO:0004993", "DOID:305", "EFO:0000313", "UMLS:C0007097", "UMLS:C0553707", "MESH:D002277", "MEDDRA:10007284", "MEDDRA:10007423", "NCIT:C2916", "SNOMEDCT:1187225007", "SNOMEDCT:1187425009", "SNOMEDCT:68453008", "SNOMEDCT:71298006", "SNOMEDCT:722688002", "medgen:2867", "HP:0030731"], "information_content": 42.8}
{"id": "MONDO:0005012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin melanoma", "equivalent_identifiers": ["MONDO:0005012", "DOID:10041", "DOID:8923", "OMIM:155600", "EFO:0000389", "EFO:0004199", "UMLS:C0013403", "UMLS:C0151779", "UMLS:C0153535", "UMLS:C0153536", "UMLS:C0205747", "UMLS:C1835047", "UMLS:C2314896", "MESH:D000096142", "MESH:D004416", "MEDDRA:10003931", "MEDDRA:10013960", "MEDDRA:10013962", "MEDDRA:10025655", "MEDDRA:10025665", "MEDDRA:10027152", "MEDDRA:10027155", "MEDDRA:10040891", "MEDDRA:10069425", "MEDDRA:10069426", "MEDDRA:10088049", "NCIT:C27264", "NCIT:C3510", "NCIT:C7584", "SNOMEDCT:254819008", "SNOMEDCT:93641007", "SNOMEDCT:93653006", "SNOMEDCT:93655004", "medgen:57486", "ICD10:C43.9", "ICD9:172.9", "HP:0012056"], "information_content": 68.1}
{"id": "UniProtKB:Q96S59-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ran-binding protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96S59-1", "PR:Q96S59-1", "ENSEMBL:ENSP00000011619", "ENSEMBL:ENSP00000011619.3"], "information_content": 100.0}
{"id": "MONDO:0018838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly", "equivalent_identifiers": ["MONDO:0018838", "DOID:0050453", "OMIM.PS:607432", "orphanet:48471", "UMLS:C0266463", "UMLS:C1879312", "MESH:D054082", "MEDDRA:10048911", "MEDDRA:10048915", "NCIT:C103921", "SNOMEDCT:204036008", "medgen:78604", "ICD10:Q04.3", "HP:0001339"], "information_content": 72.5}
{"id": "MONDO:0010559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MASA syndrome", "equivalent_identifiers": ["MONDO:0010559", "DOID:0060246", "OMIM:303350", "orphanet:2466", "UMLS:C0795953", "MESH:C536029", "NCIT:C129930", "SNOMEDCT:716996008", "SNOMEDCT:838441009", "medgen:162894", "icd11.foundation:1973644723"], "information_content": 100.0}
{"id": "MONDO:0016755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurofibroma", "equivalent_identifiers": ["MONDO:0016755", "DOID:0060403", "DOID:8712", "DOID:962", "OMIM:613675", "orphanet:252183", "EFO:0000622", "EFO:0008514", "UMLS:C0027830", "UMLS:C0162678", "UMLS:C0495632", "UMLS:C1314735", "UMLS:C5401456", "MESH:C563524", "MESH:D009455", "MESH:D017253", "MEDDRA:10029267", "MEDDRA:10029268", "MEDDRA:10029272", "NCIT:C3272", "NCIT:C6727", "SNOMEDCT:1156930004", "SNOMEDCT:19133005", "SNOMEDCT:404029005", "SNOMEDCT:81669005", "SNOMEDCT:880093002", "SNOMEDCT:89084002", "medgen:45058", "medgen:58149", "icd11.foundation:221014277", "ICD10:Q85.0", "ICD9:237.7", "HP:0001067"], "information_content": 76.4}
{"id": "NCBIGene:920", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD4", "equivalent_identifiers": ["NCBIGene:920", "ENSEMBL:ENSG00000010610", "HGNC:1678", "OMIM:186940", "UMLS:C1332714", "UniProtKB:A0A4Y5UGE4", "UniProtKB:B0AZV7", "UniProtKB:B4DT49", "UniProtKB:P01730", "PR:P01730", "ENSEMBL:ENSP00000011653", "ENSEMBL:ENSP00000011653.4", "UMLS:C4048280"], "information_content": 73.2}
{"id": "MONDO:0003783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphopenia", "equivalent_identifiers": ["MONDO:0003783", "DOID:614", "UMLS:C0024312", "UMLS:C0300946", "UMLS:C0853986", "MESH:D008231", "MEDDRA:10025256", "MEDDRA:10025259", "MEDDRA:10025278", "MEDDRA:10025327", "MEDDRA:10091012", "NCIT:C26823", "SNOMEDCT:48813009", "medgen:7418", "icd11.foundation:298296736", "ICD10:D72.810", "ICD9:288.51", "HP:0001888"], "information_content": 90.9}
{"id": "MONDO:0019121", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pneumocystosis", "equivalent_identifiers": ["MONDO:0019121", "DOID:11339", "orphanet:723", "EFO:0007448", "UMLS:C1535939", "MESH:D011020", "MEDDRA:10035659", "MEDDRA:10035661", "MEDDRA:10051460", "MEDDRA:10064108", "MEDDRA:10073755", "NCIT:C3334", "SNOMEDCT:415125002", "medgen:777048", "icd11.foundation:404370038", "ICD10:B59", "ICD9:136.3", "HP:0034286"], "information_content": 95.4}
{"id": "MONDO:0005526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetanus", "equivalent_identifiers": ["MONDO:0005526", "DOID:11338", "orphanet:3299", "EFO:0005593", "UMLS:C0039614", "MESH:D013742", "MEDDRA:10009663", "MEDDRA:10043376", "NCIT:C85185", "SNOMEDCT:276202003", "SNOMEDCT:76902006", "medgen:21489", "icd11.foundation:1793762788", "ICD10:A35", "ICD9:037"], "information_content": 95.4}
{"id": "MONDO:0005976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syphilis", "equivalent_identifiers": ["MONDO:0005976", "DOID:4166", "EFO:0007504", "UMLS:C0039128", "MESH:D013587", "MEDDRA:10042882", "MEDDRA:10042896", "MEDDRA:10044588", "MEDDRA:10062120", "MEDDRA:10063034", "NCIT:C35055", "SNOMEDCT:76272004", "medgen:21447", "icd11.foundation:455894495", "ICD10:A51.0"], "information_content": 78.5}
{"id": "MONDO:0016537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphoproliferative syndrome", "equivalent_identifiers": ["MONDO:0016537", "DOID:0060704", "OMIM.PS:308240", "UMLS:C0024314", "MESH:D008232", "MEDDRA:10025351", "MEDDRA:10061232", "NCIT:C9308", "SNOMEDCT:277466009", "SNOMEDCT:414629003", "SNOMEDCT:84631004", "medgen:6162", "HP:0005523"], "information_content": 49.4}
{"id": "MONDO:0004664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "helminthiasis", "equivalent_identifiers": ["MONDO:0004664", "DOID:883", "EFO:1001342", "UMLS:C0018889", "MESH:D006373", "MEDDRA:10019380", "MEDDRA:10019382", "MEDDRA:10061201", "NCIT:C84751", "SNOMEDCT:27601005", "medgen:6765", "ICD10:B83.9", "ICD9:120-129.99"], "information_content": 71.3}
{"id": "MONDO:0019338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sarcoidosis", "equivalent_identifiers": ["MONDO:0019338", "DOID:11335", "orphanet:797", "UMLS:C0036202", "MESH:D012507", "MEDDRA:10039485", "MEDDRA:10039486", "MEDDRA:10039490", "MEDDRA:10054039", "MEDDRA:10054078", "MEDDRA:10054079", "NCIT:C34995", "SNOMEDCT:31541009", "medgen:48554", "icd11.foundation:330792642", "ICD10:D86", "ICD9:135"], "information_content": 83.1}
{"id": "MONDO:0015977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia", "equivalent_identifiers": ["MONDO:0015977", "DOID:2583", "OMIM.PS:601495", "orphanet:183669", "UMLS:C0001768", "MESH:D000361", "MEDDRA:10001470", "MEDDRA:10001471", "SNOMEDCT:119249001", "medgen:168", "ICD10:D80.1", "ICD9:279.00", "HP:0004432"], "information_content": 74.9}
{"id": "MONDO:0015925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interstitial lung disease", "equivalent_identifiers": ["MONDO:0015925", "DOID:3082", "orphanet:182095", "EFO:0004244", "UMLS:C0206062", "UMLS:C5399840", "UMLS:C5441745", "MESH:D017563", "MEDDRA:10022611", "NCIT:C164315", "SNOMEDCT:233703007", "medgen:1788738", "ICD10:J84.9", "HP:0006530"], "information_content": 70.1}
{"id": "MONDO:0005111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EBV Infection", "equivalent_identifiers": ["MONDO:0005111", "DOID:2938", "EFO:0000769", "UMLS:C0149678", "MESH:D020031", "MEDDRA:10014077", "MEDDRA:10015107", "MEDDRA:10015108", "NCIT:C38759", "SNOMEDCT:240530001", "medgen:57439"], "information_content": 67.1}
{"id": "MONDO:0020283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uveitis", "equivalent_identifiers": ["MONDO:0020283", "DOID:13141", "orphanet:98715", "EFO:1001231", "UMLS:C0042164", "MESH:D014605", "MEDDRA:10046851", "MEDDRA:10046855", "NCIT:C26909", "SNOMEDCT:128473001", "medgen:52961", "ICD10:H20.9", "HP:0000554"], "information_content": 74.3}
{"id": "MONDO:0005989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toxoplasmosis", "equivalent_identifiers": ["MONDO:0005989", "DOID:9965", "EFO:0007517", "UMLS:C0040558", "MESH:D014123", "MEDDRA:10044272", "MEDDRA:10044273", "MEDDRA:10044275", "MEDDRA:10054155", "NCIT:C3418", "SNOMEDCT:187192000", "medgen:21597", "icd11.foundation:738999268", "ICD10:B58", "ICD9:130"], "information_content": 89.4}
{"id": "MONDO:0100130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult acute respiratory distress syndrome", "equivalent_identifiers": ["MONDO:0100130", "DOID:11394", "orphanet:70578", "UMLS:C0035222", "UMLS:C0852283", "UMLS:C1368020", "UMLS:C4281993", "MESH:D012128", "MEDDRA:10000036", "MEDDRA:10001052", "MEDDRA:10001407", "MEDDRA:10001409", "MEDDRA:10001410", "MEDDRA:10003083", "MEDDRA:10028973", "MEDDRA:10038688", "MEDDRA:10038691", "MEDDRA:10040579", "MEDDRA:10042787", "MEDDRA:10042839", "SNOMEDCT:1179627006", "SNOMEDCT:196153002", "SNOMEDCT:67782005", "medgen:20540", "icd11.foundation:1466842111", "ICD10:J80", "HP:0002643"], "information_content": 92.8}
{"id": "MONDO:0001222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital T-cell immunodeficiency", "equivalent_identifiers": ["MONDO:0001222", "DOID:11200", "UMLS:C1333147", "NCIT:C27872", "medgen:232099"], "information_content": 87.2}
{"id": "MONDO:0005609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "herpes zoster", "equivalent_identifiers": ["MONDO:0005609", "DOID:8536", "EFO:0006510", "UMLS:C0019360", "MESH:D006562", "MEDDRA:10019974", "MEDDRA:10019982", "MEDDRA:10040555", "MEDDRA:10067526", "MEDDRA:10081165", "NCIT:C71079", "SNOMEDCT:4740000", "medgen:42437", "ICD10:B02", "ICD9:053"], "information_content": 90.9}
{"id": "MONDO:0004619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "measles", "equivalent_identifiers": ["MONDO:0004619", "DOID:8622", "EFO:1002025", "UMLS:C0025007", "MESH:D008457", "MEDDRA:10027011", "MEDDRA:10039282", "MEDDRA:10039290", "NCIT:C96406", "SNOMEDCT:14189004", "medgen:6252", "icd11.foundation:1826431497", "ICD10:B05", "ICD9:055"], "information_content": 100.0}
{"id": "MONDO:0005231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatitis C", "equivalent_identifiers": ["MONDO:0005231", "DOID:1883", "EFO:0003047", "UMLS:C0019196", "MESH:D006526", "MEDDRA:10019620", "MEDDRA:10019718", "MEDDRA:10019744", "MEDDRA:10019786", "MEDDRA:10029526", "MEDDRA:10047457", "NCIT:C3098", "SNOMEDCT:128302006", "SNOMEDCT:50711007", "medgen:42425", "ICD10:B19.20", "ICD9:070.7"], "information_content": 78.0}
{"id": "MONDO:0005002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic obstructive pulmonary disease", "equivalent_identifiers": ["MONDO:0005002", "DOID:3083", "OMIM:606963", "EFO:0000341", "UMLS:C0024117", "UMLS:C1527303", "UMLS:C2751329", "MESH:D029424", "MEDDRA:10008828", "MEDDRA:10009025", "MEDDRA:10009026", "MEDDRA:10009032", "MEDDRA:10009033", "MEDDRA:10010952", "MEDDRA:10029972", "MEDDRA:10064611", "MEDDRA:10070975", "NCIT:C3199", "SNOMEDCT:13645005", "medgen:9818", "icd11.foundation:133207228", "ICD10:J44.9", "HP:0006510"], "information_content": 81.7}
{"id": "MONDO:0002595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vaccinia", "equivalent_identifiers": ["MONDO:0002595", "DOID:3298", "UMLS:C0042214", "MESH:D014615", "MEDDRA:10066048", "SNOMEDCT:111852003", "medgen:52964", "icd11.foundation:1275065853"], "information_content": 100.0}
{"id": "MONDO:0005700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chickenpox", "equivalent_identifiers": ["MONDO:0005700", "DOID:8659", "EFO:0007204", "UMLS:C0008049", "MESH:D002644", "MEDDRA:10008505", "MEDDRA:10046980", "NCIT:C97132", "SNOMEDCT:38907003", "medgen:2995", "ICD10:B01.9", "ICD9:052"], "information_content": 100.0}
{"id": "MONDO:0004609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "herpes simplex", "equivalent_identifiers": ["MONDO:0004609", "DOID:8566", "EFO:1002022", "UMLS:C0019348", "MESH:D006561", "MEDDRA:10019948", "MEDDRA:10019957", "MEDDRA:10063570", "NCIT:C155871", "SNOMEDCT:88594005", "medgen:9234", "ICD10:B00.9", "ICD9:054"], "information_content": 81.3}
{"id": "MONDO:0016318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive multifocal leukoencephalopathy", "equivalent_identifiers": ["MONDO:0016318", "DOID:643", "orphanet:217260", "EFO:0007455", "UMLS:C0023524", "MESH:D007968", "MEDDRA:10036806", "MEDDRA:10036807", "NCIT:C26815", "SNOMEDCT:22255007", "medgen:7327", "icd11.foundation:902939755", "ICD10:A81.2", "ICD9:046.3"], "information_content": 100.0}
{"id": "MONDO:0005091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe acute respiratory syndrome", "equivalent_identifiers": ["MONDO:0005091", "DOID:2945", "orphanet:140896", "EFO:0000694", "UMLS:C1175175", "MESH:D045169", "MEDDRA:10061982", "MEDDRA:10061986", "MEDDRA:10084784", "NCIT:C85064", "SNOMEDCT:398447004", "medgen:262817", "icd11.foundation:652944603", "ICD10:J12.81", "ICD9:079.82"], "information_content": 100.0}
{"id": "MONDO:0005737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ebola hemorrhagic fever", "equivalent_identifiers": ["MONDO:0005737", "DOID:4325", "orphanet:319218", "EFO:0007243", "UMLS:C0282687", "MESH:D019142", "MEDDRA:10014071", "MEDDRA:10014072", "MEDDRA:10014074", "MEDDRA:10055245", "NCIT:C36171", "SNOMEDCT:37109004", "medgen:129219", "icd11.foundation:792755706", "ICD10:A98.4"], "information_content": 100.0}
{"id": "MONDO:0005283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal disease", "equivalent_identifiers": ["MONDO:0005283", "DOID:5679", "EFO:0003839", "UMLS:C0035300", "UMLS:C0035309", "MESH:D012164", "MEDDRA:10013265", "MEDDRA:10038853", "MEDDRA:10038854", "MEDDRA:10038923", "MEDDRA:10046146", "MEDDRA:10048487", "NCIT:C26875", "NCIT:C62601", "SNOMEDCT:29555009", "medgen:11209", "ICD10:H35.9", "ICD9:362.9", "HP:0000479"], "information_content": 56.1}
{"id": "MONDO:0020502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "yellow fever", "equivalent_identifiers": ["MONDO:0020502", "DOID:9682", "orphanet:99829", "UMLS:C0043395", "MESH:D015004", "MEDDRA:10046248", "MEDDRA:10048240", "MEDDRA:10048242", "MEDDRA:10048243", "NCIT:C35547", "SNOMEDCT:16541001", "medgen:53112", "icd11.foundation:383352795", "ICD10:A95", "ICD9:060"], "information_content": 100.0}
{"id": "MONDO:0000989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mumps", "equivalent_identifiers": ["MONDO:0000989", "DOID:10264", "EFO:0007383", "UMLS:C0026780", "UMLS:C0376551", "MESH:D009107", "MESH:D019351", "MEDDRA:10009300", "MEDDRA:10028257", "MEDDRA:10065183", "NCIT:C29888", "SNOMEDCT:240526004", "SNOMEDCT:36989005", "SNOMEDCT:721787000", "medgen:44521", "ICD10:B26", "ICD9:072"], "information_content": 95.4}
{"id": "MONDO:0005077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pertussis", "equivalent_identifiers": ["MONDO:0005077", "DOID:1116", "orphanet:1489", "EFO:0000650", "UMLS:C0043167", "MESH:D014917", "MEDDRA:10034738", "MEDDRA:10047976", "NCIT:C85231", "SNOMEDCT:27836007", "medgen:12159", "KEGG.DISEASE:05133"], "information_content": 100.0}
{"id": "MONDO:0004656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rubella", "equivalent_identifiers": ["MONDO:0004656", "DOID:8781", "EFO:1002026", "UMLS:C0035920", "MESH:D012409", "MEDDRA:10018206", "MEDDRA:10039252", "NCIT:C85051", "SNOMEDCT:36653000", "medgen:48514", "icd11.foundation:410022648", "ICD10:B06.9", "ICD9:056"], "information_content": 90.9}
{"id": "MONDO:0005124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leprosy", "equivalent_identifiers": ["MONDO:0005124", "DOID:1024", "orphanet:548", "EFO:0001054", "UMLS:C0023343", "MESH:D007918", "MEDDRA:10019138", "MEDDRA:10024229", "MEDDRA:10024230", "MEDDRA:10024231", "MEDDRA:10024232", "MEDDRA:10028451", "NCIT:C84824", "SNOMEDCT:81004002", "medgen:6049", "icd11.foundation:149072669", "ICD10:A30", "ICD9:030"], "information_content": 83.6}
{"id": "MONDO:0004126", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroiditis", "equivalent_identifiers": ["MONDO:0004126", "DOID:7166", "UMLS:C0040147", "MESH:D013966", "MEDDRA:10043778", "MEDDRA:10043783", "MEDDRA:10043785", "NCIT:C26894", "SNOMEDCT:82119001", "medgen:21548", "icd11.foundation:587793334", "ICD10:E06", "ICD9:245", "HP:0100646"], "information_content": 79.0}
{"id": "MONDO:0005790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatitis A", "equivalent_identifiers": ["MONDO:0005790", "DOID:12549", "EFO:0007305", "UMLS:C0019159", "MESH:D006506", "MEDDRA:10019719", "MEDDRA:10019780", "MEDDRA:10019782", "MEDDRA:10021913", "MEDDRA:10047447", "NCIT:C3096", "SNOMEDCT:40468003", "medgen:42418"], "information_content": 100.0}
{"id": "MONDO:0002465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchiolitis", "equivalent_identifiers": ["MONDO:0002465", "DOID:2942", "UMLS:C0006271", "MESH:D001988", "MEDDRA:10006448", "NCIT:C39658", "SNOMEDCT:4120002", "medgen:14235", "HP:0011950"], "information_content": 84.8}
{"id": "MONDO:0003799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conjunctivitis", "equivalent_identifiers": ["MONDO:0003799", "DOID:6195", "EFO:0009450", "UMLS:C0009763", "UMLS:C1864156", "MESH:D003231", "MEDDRA:10010741", "MEDDRA:10010751", "MEDDRA:10010757", "NCIT:C34504", "SNOMEDCT:9826008", "medgen:1093", "icd11.foundation:831696556", "ICD10:H10", "ICD9:372.30", "HP:0000509"], "information_content": 76.2}
{"id": "MONDO:0004277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gonorrhea", "equivalent_identifiers": ["MONDO:0004277", "DOID:7551", "UMLS:C0018081", "MESH:D006069", "MEDDRA:10018604", "MEDDRA:10018612", "MEDDRA:10018615", "MEDDRA:10051970", "MEDDRA:10081185", "NCIT:C35730", "NCIT:C92950", "SNOMEDCT:15628003", "medgen:9077", "ICD10:A54", "ICD9:098"], "information_content": 78.5}
{"id": "MONDO:0000827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "salmonellosis", "equivalent_identifiers": ["MONDO:0000827", "DOID:0060859", "orphanet:795", "EFO:1001418", "UMLS:C0036117", "MESH:D012480", "MEDDRA:10039430", "MEDDRA:10039436", "MEDDRA:10039437", "MEDDRA:10039438", "MEDDRA:10039447", "NCIT:C157974", "SNOMEDCT:302231008", "medgen:48542", "ICD10:A02.0", "ICD9:003.0"], "information_content": 88.2}
{"id": "MONDO:0100116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Middle East respiratory syndrome", "equivalent_identifiers": ["MONDO:0100116", "DOID:0080642", "orphanet:576074", "UMLS:C3694279", "MEDDRA:10075271", "MEDDRA:10077246", "NCIT:C128424", "SNOMEDCT:651000146102", "medgen:811327", "icd11.foundation:1840423014"], "information_content": 100.0}
{"id": "MONDO:0004907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia", "equivalent_identifiers": ["MONDO:0004907", "DOID:987", "orphanet:79364", "UMLS:C0002170", "MESH:D000505", "MEDDRA:10001760", "MEDDRA:10001768", "MEDDRA:10001769", "MEDDRA:10004082", "MEDDRA:10019045", "MEDDRA:10019050", "NCIT:C50575", "SNOMEDCT:278040002", "SNOMEDCT:56317004", "medgen:7982", "icd11.foundation:1313926062", "ICD10:L65.9", "ICD9:704.0", "HP:0001596"], "information_content": 73.9}
{"id": "MONDO:0004842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stomatitis", "equivalent_identifiers": ["MONDO:0004842", "DOID:9637", "EFO:0009688", "UMLS:C0038362", "UMLS:C0149704", "MESH:D013280", "MEDDRA:10028130", "MEDDRA:10042128", "MEDDRA:10067244", "NCIT:C26887", "SNOMEDCT:20607006", "SNOMEDCT:61170000", "medgen:52511", "HP:0010280"], "information_content": 79.6}
{"id": "MONDO:0017979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune lymphoproliferative syndrome", "equivalent_identifiers": ["MONDO:0017979", "DOID:6688", "orphanet:3261", "MESH:D056735", "NCIT:C37864", "icd11.foundation:1072688797", "ICD10:D89.82", "ICD9:279.41"], "information_content": 79.6}
{"id": "MONDO:0006816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthropathy", "equivalent_identifiers": ["MONDO:0006816", "DOID:381", "EFO:1000999", "UMLS:C0022408", "UMLS:C0157749", "MESH:D007592", "MEDDRA:10003285", "MEDDRA:10003286", "MEDDRA:10003376", "MEDDRA:10003392", "MEDDRA:10003394", "MEDDRA:10003416", "MEDDRA:10003418", "MEDDRA:10013230", "MEDDRA:10023211", "MEDDRA:10023212", "MEDDRA:10023213", "MEDDRA:10023214", "MEDDRA:10023216", "MEDDRA:10045640", "MEDDRA:10045795", "MEDDRA:10045798", "NCIT:C35760", "NCIT:C78402", "SNOMEDCT:363162000", "SNOMEDCT:396233005", "SNOMEDCT:399269003", "medgen:7190", "ICD10:M00-M02", "ICD10:M12.9", "ICD9:711", "ICD9:719.90", "HP:0003040"], "information_content": 68.5}
{"id": "MONDO:0019173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rabies", "equivalent_identifiers": ["MONDO:0019173", "DOID:11260", "orphanet:770", "UMLS:C0034494", "MESH:D011818", "MEDDRA:10037742", "MEDDRA:10037743", "MEDDRA:10037744", "NCIT:C28182", "SNOMEDCT:14168008", "medgen:48308", "icd11.foundation:854762584", "ICD10:A82", "ICD9:071"], "information_content": 100.0}
{"id": "MONDO:0015474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryptosporidiosis", "equivalent_identifiers": ["MONDO:0015474", "DOID:1733", "UMLS:C0010418", "UMLS:C0520796", "MESH:D003457", "MEDDRA:10011499", "MEDDRA:10011500", "MEDDRA:10011501", "MEDDRA:10011502", "MEDDRA:10017899", "NCIT:C128408", "NCIT:C35591", "SNOMEDCT:240370009", "SNOMEDCT:58777003", "SNOMEDCT:66160001", "medgen:41362", "icd11.foundation:1837013982", "ICD10:A07.2", "ICD9:007.4"], "information_content": 95.4}
{"id": "MONDO:0002519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anus disorder", "equivalent_identifiers": ["MONDO:0002519", "DOID:3128", "EFO:0009660", "UMLS:C0003462", "MESH:D001004", "MEDDRA:10002151", "MEDDRA:10002852", "MEDDRA:10013189", "NCIT:C26695", "SNOMEDCT:32110003", "medgen:359"], "information_content": 68.5}
{"id": "MONDO:0005647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Genital warts", "equivalent_identifiers": ["MONDO:0005647", "DOID:11168", "EFO:0007147", "UMLS:C0009663", "UMLS:C0554632", "MESH:D003218", "MEDDRA:10010291", "MEDDRA:10010295", "MEDDRA:10018182", "MEDDRA:10047202", "MEDDRA:10048423", "MEDDRA:10059313", "NCIT:C2960", "NCIT:C4820", "SNOMEDCT:240542006", "SNOMEDCT:266113007", "SNOMEDCT:302812006", "medgen:108217", "ICD10:A63.0", "ICD9:078.11", "HP:0032301"], "information_content": 85.5}
{"id": "MONDO:0005316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bacterial vaginosis", "equivalent_identifiers": ["MONDO:0005316", "DOID:3385", "EFO:0003932", "UMLS:C0085166", "MESH:D016585", "MEDDRA:10004055", "MEDDRA:10029562", "MEDDRA:10046956", "MEDDRA:10046960", "MEDDRA:10046961", "MEDDRA:10062167", "NCIT:C116973", "SNOMEDCT:419760006", "medgen:43118", "icd11.foundation:63323819"], "information_content": 100.0}
{"id": "MONDO:0000743", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oral hairy leukoplakia", "equivalent_identifiers": ["MONDO:0000743", "DOID:0060315", "EFO:1001360", "UMLS:C0206186", "MESH:D017733", "MEDDRA:10024397", "MEDDRA:10030979", "MEDDRA:10052574", "NCIT:C3722", "SNOMEDCT:414952002", "medgen:104797", "ICD10:K13.3", "HP:0025126"], "information_content": 95.4}
{"id": "MONDO:0005701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chlamydia", "equivalent_identifiers": ["MONDO:0005701", "DOID:11263", "EFO:0007205", "MESH:D002689", "NCIT:C34463", "SNOMEDCT:105629000"], "information_content": 89.4}
{"id": "MONDO:0006573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipodystrophy", "equivalent_identifiers": ["MONDO:0006573", "DOID:811", "EFO:1000727", "UMLS:C0023787", "MESH:D008060", "MEDDRA:10024606", "MEDDRA:10024608", "NCIT:C97093", "SNOMEDCT:71325002", "medgen:6111", "ICD9:272.6", "HP:0009125"], "information_content": 73.9}
{"id": "MONDO:0018037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgE syndrome", "equivalent_identifiers": ["MONDO:0018037", "DOID:0080545", "OMIM.PS:147060", "orphanet:331223", "UMLS:C3887645", "NCIT:C3144", "SNOMEDCT:191009009", "medgen:854488", "icd11.foundation:223461798"], "information_content": 82.1}
{"id": "MONDO:0003947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgM syndrome", "equivalent_identifiers": ["MONDO:0003947", "DOID:0080544", "OMIM.PS:308230", "UMLS:C0272236", "MESH:D053306", "MEDDRA:10066130", "NCIT:C3990", "NCIT:C84783", "SNOMEDCT:82286005", "medgen:124420", "ICD10:D80.5"], "information_content": 87.2}
{"id": "MONDO:0011022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Potocki-Shaffer syndrome", "equivalent_identifiers": ["MONDO:0011022", "DOID:0111687", "OMIM:601224", "orphanet:52022", "UMLS:C1832588", "MESH:C538356", "NCIT:C75456", "SNOMEDCT:702346005", "medgen:318657", "icd11.foundation:1587521558"], "information_content": 100.0}
{"id": "MONDO:0006969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sialadenitis", "equivalent_identifiers": ["MONDO:0006969", "DOID:10303", "EFO:1001179", "UMLS:C0037023", "MESH:D012793", "MEDDRA:10040627", "MEDDRA:10040628", "MEDDRA:10040630", "MEDDRA:10075244", "NCIT:C115165", "NCIT:C26882", "SNOMEDCT:42982001", "medgen:48657", "ICD9:527.2", "HP:0031281"], "information_content": 92.8}
{"id": "MONDO:0002305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia", "equivalent_identifiers": ["MONDO:0002305", "DOID:2452", "EFO:0009315", "UMLS:C0398623", "MESH:D019851", "MEDDRA:10020608", "MEDDRA:10057396", "MEDDRA:10075816", "NCIT:C84479", "SNOMEDCT:234467004", "SNOMEDCT:76612001", "medgen:98306", "icd11.foundation:1733531851", "HP:0100724"], "information_content": 78.5}
{"id": "MONDO:0006733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dry eye syndrome", "equivalent_identifiers": ["MONDO:0006733", "DOID:10140", "DOID:12895", "EFO:1000906", "UMLS:C0013238", "MESH:D007638", "MESH:D015352", "MEDDRA:10013777", "NCIT:C34553", "SNOMEDCT:46152009", "medgen:4411", "ICD10:H04.12"], "information_content": 95.4}
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{"id": "MONDO:0100233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long COVID-19", "equivalent_identifiers": ["MONDO:0100233", "DOID:0080848", "UMLS:C5433293", "MESH:D000094024", "MEDDRA:10085503", "MEDDRA:10085504", "MEDDRA:10085868", "NCIT:C179263", "SNOMEDCT:1119303003", "medgen:1735839"], "information_content": 81.7}
{"id": "MONDO:0002594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monkeypox", "equivalent_identifiers": ["MONDO:0002594", "DOID:3292", "UMLS:C0276180", "MESH:D045908", "MEDDRA:10069538", "MEDDRA:10088911", "NCIT:C128421", "SNOMEDCT:359814004", "medgen:124442", "ICD10:B04", "ICD9:059.01"], "information_content": 100.0}
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{"id": "MONDO:0005855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "molluscum contagiosum", "equivalent_identifiers": ["MONDO:0005855", "DOID:8867", "EFO:0007375", "UMLS:C0026393", "MESH:D008976", "MEDDRA:10027807", "MEDDRA:10027808", "MEDDRA:10027809", "MEDDRA:10027810", "NCIT:C155872", "SNOMEDCT:40070004", "medgen:10081", "icd11.foundation:82201615", "ICD10:B08.1", "ICD9:078.0", "HP:0032163"], "information_content": 95.4}
{"id": "MONDO:0001409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophagitis", "equivalent_identifiers": ["MONDO:0001409", "DOID:11963", "UMLS:C0014868", "MESH:D004941", "MEDDRA:10015461", "MEDDRA:10015464", "MEDDRA:10030216", "MEDDRA:10030220", "MEDDRA:10072772", "MEDDRA:10082461", "MEDDRA:10082467", "NCIT:C9224", "SNOMEDCT:16761005", "medgen:4549", "ICD10:K20", "ICD9:530.1", "HP:0100633"], "information_content": 83.1}
{"id": "MONDO:0005904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pericarditis", "equivalent_identifiers": ["MONDO:0005904", "DOID:1787", "EFO:0007427", "UMLS:C0031046", "MESH:D010493", "MEDDRA:10034484", "MEDDRA:10034495", "NCIT:C34915", "SNOMEDCT:3238004", "medgen:18377", "icd11.foundation:1296696944", "HP:0001701"], "information_content": 84.2}
{"id": "MONDO:0001341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgA Deficiency", "equivalent_identifiers": ["MONDO:0001341", "DOID:0060025", "DOID:11701", "EFO:1001929", "UMLS:C0162538", "UMLS:C0553533", "UMLS:C4049006", "MESH:D017098", "MEDDRA:10011965", "MEDDRA:10021259", "MEDDRA:10021260", "MEDDRA:10021472", "MEDDRA:10021475", "MEDDRA:10039915", "NCIT:C26964", "SNOMEDCT:190979003", "SNOMEDCT:29260007", "medgen:883982", "HP:0002720"], "information_content": 89.4}
{"id": "MONDO:0006932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary edema", "equivalent_identifiers": ["MONDO:0006932", "DOID:11396", "EFO:1001134", "UMLS:C0034063", "MESH:D011654", "MEDDRA:10014233", "MEDDRA:10014253", "MEDDRA:10025084", "MEDDRA:10025112", "MEDDRA:10030126", "MEDDRA:10037375", "MEDDRA:10037423", "MEDDRA:10037424", "MEDDRA:10037426", "MEDDRA:10055929", "NCIT:C26868", "SNOMEDCT:19242006", "medgen:11026", "ICD10:J81", "HP:0100598"], "information_content": 92.8}
{"id": "MONDO:0005279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary embolism", "equivalent_identifiers": ["MONDO:0005279", "DOID:9477", "EFO:0003827", "UMLS:C0034065", "MESH:D011655", "MEDDRA:10014521", "MEDDRA:10014537", "MEDDRA:10037377", "MEDDRA:10037380", "MEDDRA:10050071", "MEDDRA:10082134", "MEDDRA:10088860", "NCIT:C50713", "SNOMEDCT:59282003", "medgen:11027", "ICD10:I26", "HP:0002204"], "information_content": 87.2}
{"id": "MONDO:0002610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "purpura", "equivalent_identifiers": ["MONDO:0002610", "DOID:3326", "UMLS:C0034150", "UMLS:C4732730", "MESH:D011693", "MEDDRA:10034228", "MEDDRA:10037549", "MEDDRA:10037559", "NCIT:C78787", "SNOMEDCT:12393003", "SNOMEDCT:387778001", "SNOMEDCT:423902002", "medgen:19584", "ICD10:D69.2", "HP:0000979"], "information_content": 85.5}
{"id": "MONDO:0012897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital factor XI deficiency", "equivalent_identifiers": ["MONDO:0012897", "DOID:2229", "OMIM:612416", "orphanet:329", "UMLS:C0015523", "UMLS:C4317093", "MEDDRA:10010469", "MEDDRA:10016082", "MEDDRA:10018940", "MEDDRA:10060615", "NCIT:C84705", "SNOMEDCT:49762007", "medgen:8770", "icd11.foundation:413739466", "ICD10:D68.1", "ICD9:286.2", "HP:0001929"], "information_content": 92.8}
{"id": "MONDO:0002258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pharyngitis", "equivalent_identifiers": ["MONDO:0002258", "DOID:2275", "UMLS:C0031350", "UMLS:C0155824", "MESH:D010612", "MEDDRA:10034835", "MEDDRA:10034838", "MEDDRA:10065716", "NCIT:C26851", "SNOMEDCT:405737000", "medgen:45846", "ICD10:J02", "ICD9:462", "ICD9:472", "ICD9:478.20", "HP:0025439"], "information_content": 86.3}
{"id": "MONDO:0005846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microsporidiosis", "equivalent_identifiers": ["MONDO:0005846", "DOID:4271", "orphanet:2552", "EFO:0007366", "UMLS:C0085407", "MESH:D016881", "MEDDRA:10053982", "NCIT:C84891", "SNOMEDCT:65883009", "SNOMEDCT:699676006", "medgen:39278", "icd11.foundation:1021483422", "ICD10:B60.8"], "information_content": 95.4}
{"id": "MONDO:0000888", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucositis", "equivalent_identifiers": ["MONDO:0000888", "DOID:0080178", "EFO:1001891", "UMLS:C0521585", "MEDDRA:10017981", "NCIT:C3853", "SNOMEDCT:95518006", "medgen:636691"], "information_content": 64.3}
{"id": "MONDO:0005246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteomyelitis", "equivalent_identifiers": ["MONDO:0005246", "DOID:1019", "EFO:0003102", "UMLS:C0008707", "UMLS:C0029443", "UMLS:C2242472", "MESH:D010019", "MEDDRA:10005977", "MEDDRA:10009081", "MEDDRA:10009091", "MEDDRA:10031252", "MEDDRA:10031256", "MEDDRA:10031257", "MEDDRA:10031259", "MEDDRA:10045927", "MEDDRA:10045936", "MEDDRA:10046076", "MEDDRA:10046086", "MEDDRA:10061017", "NCIT:C26839", "NCIT:C27577", "SNOMEDCT:111253001", "SNOMEDCT:40970001", "SNOMEDCT:60168000", "medgen:10497", "ICD9:730.1", "HP:0002754"], "information_content": 86.3}
{"id": "MONDO:0005404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myalgic encephalomeyelitis/chronic fatigue syndrome", "equivalent_identifiers": ["MONDO:0005404", "DOID:8544", "EFO:0004540", "UMLS:C0015674", "MESH:D015673", "MEDDRA:10008874", "MEDDRA:10028414", "MEDDRA:10039246", "MEDDRA:10057244", "NCIT:C3037", "SNOMEDCT:51771007", "SNOMEDCT:52702003", "medgen:5130", "ICD10:G93.32", "ICD9:780.71"], "information_content": 100.0}
{"id": "MONDO:0004674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chorioretinitis", "equivalent_identifiers": ["MONDO:0004674", "DOID:8886", "UMLS:C0008513", "MESH:D002825", "MEDDRA:10008769", "MEDDRA:10008771", "MEDDRA:10086282", "NCIT:C110923", "SNOMEDCT:46627006", "medgen:942", "ICD9:363.20", "HP:0012424"], "information_content": 85.5}
{"id": "MONDO:0001824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyneuropathy", "equivalent_identifiers": ["MONDO:0001824", "DOID:1389", "EFO:0009562", "UMLS:C0152025", "UMLS:C0751449", "MESH:D011115", "MEDDRA:10036105", "MEDDRA:10036118", "NCIT:C26951", "SNOMEDCT:42345000", "medgen:57502", "icd11.foundation:58868923", "HP:0001271"], "information_content": 79.9}
{"id": "MONDO:0007079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alcohol dependence", "equivalent_identifiers": ["MONDO:0007079", "DOID:0050741", "OMIM:103780", "EFO:0009458", "UMLS:C0001956", "UMLS:C0001973", "UMLS:C0679287", "UMLS:C0679288", "UMLS:C0679289", "UMLS:C0679290", "UMLS:C0841000", "UMLS:C3650363", "UMLS:C3887915", "UMLS:C4236928", "UMLS:C4236929", "UMLS:C4268204", "UMLS:C4268205", "UMLS:C4268206", "UMLS:C4268207", "UMLS:C4268208", "UMLS:C4268209", "UMLS:C4268210", "UMLS:C4268211", "UMLS:C4268212", "UMLS:C4268213", "UMLS:C4509034", "UMLS:C4509035", "UMLS:C4509036", "UMLS:C4509037", "UMLS:C4536264", "MEDDRA:10001585", "MEDDRA:10001586", "MEDDRA:10001590", "MEDDRA:10001594", "MEDDRA:10001639", "MEDDRA:10013037", "MEDDRA:10049894", "MEDDRA:10063499", "MEDDRA:10080021", "NCIT:C93040", "SNOMEDCT:1336085007", "SNOMEDCT:284591009", "SNOMEDCT:66590003", "SNOMEDCT:7200002", "medgen:1801", "icd11.foundation:1580466198", "KEGG.DISEASE:05034", "HP:0030955"], "information_content": 95.4}
{"id": "MONDO:0002363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papilloma", "equivalent_identifiers": ["MONDO:0002363", "DOID:2615", "UMLS:C0030354", "MESH:D010212", "MEDDRA:10033713", "MEDDRA:10033715", "MEDDRA:10033725", "NCIT:C7440", "SNOMEDCT:23730008", "SNOMEDCT:711329002", "medgen:10566", "HP:0012740"], "information_content": 70.2}
{"id": "MONDO:0001370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pericardial effusion", "equivalent_identifiers": ["MONDO:0001370", "DOID:118", "UMLS:C0031039", "MESH:D010490", "MEDDRA:10014311", "MEDDRA:10034474", "NCIT:C3319", "SNOMEDCT:373945007", "medgen:10653", "icd11.foundation:2002014072", "HP:0001698"], "information_content": 86.3}
{"id": "MONDO:0005866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mycobacterium avium complex disease", "equivalent_identifiers": ["MONDO:0005866", "DOID:2755", "EFO:0007386", "UMLS:C0026916", "MESH:D015270", "MEDDRA:10021840", "MEDDRA:10058806", "MEDDRA:10058807", "NCIT:C36197", "SNOMEDCT:373436002", "medgen:6478"], "information_content": 100.0}
{"id": "MONDO:0005683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brucellosis", "equivalent_identifiers": ["MONDO:0005683", "DOID:11077", "orphanet:1304", "EFO:0007185", "UMLS:C0006309", "MESH:D002006", "MEDDRA:10006495", "MEDDRA:10006500", "MEDDRA:10026726", "MEDDRA:10027094", "MEDDRA:10045517", "MEDDRA:10045646", "NCIT:C84602", "SNOMEDCT:75702008", "medgen:674", "icd11.foundation:730510331", "ICD10:A23", "ICD9:023"], "information_content": 89.4}
{"id": "MONDO:0100163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COVID-19–associated multisystem inflammatory syndrome in children", "equivalent_identifiers": ["MONDO:0100163", "DOID:0080711", "UMLS:C5389369", "UMLS:C5391534", "MESH:C000705967", "MEDDRA:10084767", "MEDDRA:10084768", "MEDDRA:10084769", "MEDDRA:10084770", "MEDDRA:10084771", "MEDDRA:10084772", "NCIT:C172127", "SNOMEDCT:895448002"], "information_content": 100.0}
{"id": "MONDO:0005161", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "human papilloma virus infection", "equivalent_identifiers": ["MONDO:0005161", "DOID:11166", "EFO:0001668", "UMLS:C0343641", "UMLS:C0950124", "MESH:D030361", "MEDDRA:10033723", "MEDDRA:10033724", "MEDDRA:10061331", "MEDDRA:10063001", "MEDDRA:10086964", "MEDDRA:10086965", "NCIT:C27851", "SNOMEDCT:240532009", "SNOMEDCT:30415006", "medgen:87475"], "information_content": 69.2}
{"id": "MONDO:0005229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bacteriemia", "equivalent_identifiers": ["MONDO:0005229", "DOID:0040085", "EFO:0003033", "UMLS:C0004610", "MESH:D016470", "MEDDRA:10003997", "MEDDRA:10003998", "MEDDRA:10003999", "MEDDRA:10045641", "MEDDRA:10045642", "MEDDRA:10060562", "NCIT:C102993", "SNOMEDCT:5758002", "medgen:482", "ICD9:995.91", "HP:0031864"], "information_content": 85.5}
{"id": "MONDO:0001039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tonsillitis", "equivalent_identifiers": ["MONDO:0001039", "DOID:10456", "UMLS:C0040425", "UMLS:C0149517", "UMLS:C0740402", "MESH:D014069", "MEDDRA:10009152", "MEDDRA:10044008", "MEDDRA:10044010", "MEDDRA:10044011", "MEDDRA:10044012", "MEDDRA:10065169", "NCIT:C116006", "SNOMEDCT:90176007", "SNOMEDCT:90979004", "medgen:1781351", "ICD10:J35.01", "ICD9:474.00", "HP:0011110"], "information_content": 89.4}
{"id": "MONDO:0004425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperthyroidism", "equivalent_identifiers": ["MONDO:0004425", "DOID:7998", "EFO:0009189", "UMLS:C0020550", "UMLS:C3714618", "MESH:D006980", "MEDDRA:10020850", "MEDDRA:10075899", "MEDDRA:10088422", "NCIT:C113145", "NCIT:C3123", "SNOMEDCT:34486009", "medgen:6972", "HP:0000836"], "information_content": 79.3}
{"id": "MONDO:0005894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paracoccidioidomycosis", "equivalent_identifiers": ["MONDO:0005894", "DOID:12662", "orphanet:73260", "EFO:0007417", "UMLS:C0030409", "MESH:D010229", "MEDDRA:10033766", "MEDDRA:10033767", "MEDDRA:10033768", "MEDDRA:10061906", "NCIT:C34891", "SNOMEDCT:36866003", "SNOMEDCT:59925007", "medgen:14601", "icd11.foundation:268777657", "ICD10:B41", "ICD9:116.1"], "information_content": 100.0}
{"id": "MONDO:0005554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rheumatism", "equivalent_identifiers": ["MONDO:0005554", "DOID:1575", "DOID:854", "EFO:0005755", "UMLS:C0009326", "UMLS:C0035435", "UMLS:C0041785", "MESH:D003095", "MESH:D012216", "MEDDRA:10009903", "MEDDRA:10009904", "MEDDRA:10013207", "MEDDRA:10039068", "MEDDRA:10039070", "MEDDRA:10045746", "NCIT:C27204", "SNOMEDCT:396332003", "SNOMEDCT:81573002", "medgen:3157"], "information_content": 63.6}
{"id": "MONDO:0004768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoconjunctivitis", "equivalent_identifiers": ["MONDO:0004768", "DOID:9368", "UMLS:C0022573", "MESH:D007637", "MEDDRA:10023348", "MEDDRA:10023352", "NCIT:C34744", "SNOMEDCT:88151007", "medgen:44014", "ICD10:H16.2", "ICD9:370.40", "HP:0001096"], "information_content": 86.3}
{"id": "MONDO:0004565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal obstruction", "equivalent_identifiers": ["MONDO:0004565", "DOID:8437", "UMLS:C0021843", "MESH:D007415", "MEDDRA:10006055", "MEDDRA:10022687", "MEDDRA:10022690", "MEDDRA:10029937", "MEDDRA:10029958", "MEDDRA:10045979", "NCIT:C9175", "SNOMEDCT:81060008", "medgen:43933", "ICD10:K56.609", "ICD9:560.9", "HP:0005214"], "information_content": 79.6}
{"id": "MONDO:0019095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plague", "equivalent_identifiers": ["MONDO:0019095", "DOID:3482", "orphanet:707", "EFO:0009425", "UMLS:C0032064", "MESH:D010930", "MEDDRA:10035148", "MEDDRA:10035149", "MEDDRA:10046098", "MEDDRA:10048250", "NCIT:C85015", "SNOMEDCT:58750007", "medgen:10785", "icd11.foundation:1596449540", "ICD10:A20", "ICD9:020"], "information_content": 90.9}
{"id": "MONDO:0017373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "poliomyelitis", "equivalent_identifiers": ["MONDO:0017373", "DOID:4953", "orphanet:2912", "EFO:0007450", "UMLS:C0032371", "MESH:D011051", "MEDDRA:10001003", "MEDDRA:10001100", "MEDDRA:10036008", "MEDDRA:10036009", "MEDDRA:10036012", "MEDDRA:10036013", "MEDDRA:10036014", "MEDDRA:10036016", "MEDDRA:10072661", "NCIT:C35550", "SNOMEDCT:398102009", "SNOMEDCT:398256009", "medgen:18545", "icd11.foundation:588527933", "ICD10:A80", "ICD9:045"], "information_content": 87.2}
{"id": "MONDO:0017776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nocardiosis", "equivalent_identifiers": ["MONDO:0017776", "DOID:2312", "orphanet:31204", "EFO:0007397", "UMLS:C0028242", "MESH:D009617", "MEDDRA:10029443", "MEDDRA:10029444", "MEDDRA:10064083", "NCIT:C171147", "SNOMEDCT:29227009", "medgen:18067", "icd11.foundation:6555116", "ICD10:A43"], "information_content": 100.0}
{"id": "MONDO:0021118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal neoplasm", "equivalent_identifiers": ["MONDO:0021118", "DOID:4610", "UMLS:C0021841", "NCIT:C3141", "SNOMEDCT:126769007", "medgen:43932"], "information_content": 56.1}
{"id": "MONDO:0001449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphocytic choriomeningitis", "equivalent_identifiers": ["MONDO:0001449", "DOID:12155", "UMLS:C0024266", "MESH:D008216", "MEDDRA:10008761", "MEDDRA:10024047", "MEDDRA:10025266", "MEDDRA:10025267", "MEDDRA:10027219", "MEDDRA:10070611", "NCIT:C174114", "SNOMEDCT:276064006", "SNOMEDCT:276817007", "SNOMEDCT:397961002", "SNOMEDCT:398136003", "SNOMEDCT:721781004", "medgen:44220", "icd11.foundation:307264938", "ICD10:A87.2"], "information_content": 100.0}
{"id": "MONDO:0019383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute disseminated encephalomyelitis", "equivalent_identifiers": ["MONDO:0019383", "DOID:639", "orphanet:83597", "EFO:0007130", "UMLS:C0014059", "MESH:D004673", "MEDDRA:10000709", "NCIT:C34578", "SNOMEDCT:83942000", "medgen:4033", "icd11.foundation:1390433308"], "information_content": 90.9}
{"id": "MONDO:0004247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peptic Ulcer", "equivalent_identifiers": ["MONDO:0004247", "DOID:750", "UMLS:C0030920", "MESH:D010437", "MEDDRA:10017886", "MEDDRA:10018053", "MEDDRA:10034341", "MEDDRA:10034343", "MEDDRA:10034360", "MEDDRA:10034367", "MEDDRA:10034369", "MEDDRA:10037287", "MEDDRA:10042834", "MEDDRA:10045305", "MEDDRA:10045328", "MEDDRA:10045342", "NCIT:C3318", "SNOMEDCT:13200003", "medgen:45384", "ICD10:K27", "ICD9:533", "HP:0004398"], "information_content": 84.8}
{"id": "MONDO:0000304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "penicilliosis", "equivalent_identifiers": ["MONDO:0000304", "DOID:0050288", "UMLS:C1274008", "UMLS:C4076231", "SNOMEDCT:372936000", "SNOMEDCT:713315007", "medgen:697372"], "information_content": 100.0}
{"id": "MONDO:0004225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monoclonal gammopathy of uncertain significance", "equivalent_identifiers": ["MONDO:0004225", "DOID:3404", "DOID:7442", "EFO:1000836", "UMLS:C0026470", "MESH:D008998", "MEDDRA:10004293", "MEDDRA:10020631", "MEDDRA:10027522", "MEDDRA:10027523", "MEDDRA:10027863", "MEDDRA:10054409", "MEDDRA:10060563", "NCIT:C3996", "SNOMEDCT:277577000", "SNOMEDCT:35601003", "SNOMEDCT:58648008", "medgen:44485"], "information_content": 85.5}
{"id": "MONDO:0002272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyclonal hypergammaglobulinemia", "equivalent_identifiers": ["MONDO:0002272", "DOID:2344", "UMLS:C0154254", "MEDDRA:10036041", "MEDDRA:10036042", "NCIT:C35885", "SNOMEDCT:190808009", "medgen:56337", "ICD10:D89.0", "ICD9:273.0"], "information_content": 83.6}
{"id": "MONDO:0007950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mastocytosis", "equivalent_identifiers": ["MONDO:0007950", "DOID:350", "orphanet:98292", "EFO:0009001", "UMLS:C0024899", "UMLS:C5200990", "UMLS:C5779618", "MESH:D008415", "MEDDRA:10026891", "NCIT:C84269", "SNOMEDCT:125541005", "SNOMEDCT:127581004", "SNOMEDCT:397007003", "medgen:9902", "icd11.foundation:691643472", "ICD10:D47.09", "HP:0100495"], "information_content": 78.3}
{"id": "MONDO:0019209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Japanese encephalitis", "equivalent_identifiers": ["MONDO:0019209", "DOID:10844", "orphanet:79139", "EFO:0007332", "UMLS:C0014057", "MESH:D004672", "MEDDRA:10014596", "MEDDRA:10023119", "MEDDRA:10023120", "MEDDRA:10023123", "NCIT:C34577", "SNOMEDCT:52947006", "medgen:4032", "icd11.foundation:961032639", "ICD10:A83.0", "ICD9:062.0"], "information_content": 100.0}
{"id": "MONDO:0005576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cryoglobulinemia", "equivalent_identifiers": ["MONDO:0005576", "DOID:2917", "EFO:0005846", "UMLS:C0010403", "MESH:D003449", "MEDDRA:10011474", "MEDDRA:10011475", "NCIT:C26736", "SNOMEDCT:30911005", "medgen:3673", "ICD10:D89.1", "HP:0100778"], "information_content": 92.8}
{"id": "MONDO:0019091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchopulmonary dysplasia", "equivalent_identifiers": ["MONDO:0019091", "DOID:11650", "orphanet:70589", "UMLS:C0006287", "UMLS:C0495402", "MESH:D001997", "MEDDRA:10006475", "MEDDRA:10066204", "NCIT:C90599", "SNOMEDCT:67569000", "medgen:2738", "icd11.foundation:1462855296", "ICD10:P27.1"], "information_content": 90.9}
{"id": "MONDO:0005538", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proctitis", "equivalent_identifiers": ["MONDO:0005538", "DOID:3127", "EFO:0005628", "UMLS:C0033246", "MESH:D011349", "MEDDRA:10036774", "MEDDRA:10036782", "NCIT:C38011", "SNOMEDCT:3951002", "medgen:46113", "ICD10:K62.89"], "information_content": 89.4}
{"id": "MONDO:0000922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pelvic inflammatory disease", "equivalent_identifiers": ["MONDO:0000922", "DOID:1003", "EFO:1001388", "UMLS:C0242172", "MESH:D000292", "MEDDRA:10013114", "MEDDRA:10021965", "MEDDRA:10034253", "MEDDRA:10034254", "MEDDRA:10034257", "MEDDRA:10035007", "NCIT:C3889", "SNOMEDCT:198130006", "medgen:66845", "ICD10:N73.9", "ICD9:614.9"], "information_content": 81.3}
{"id": "MONDO:0004639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "perinatal necrotizing enterocolitis", "equivalent_identifiers": ["MONDO:0004639", "DOID:8677", "UMLS:C4082937", "SNOMEDCT:397729009", "medgen:906305", "ICD10:K55.3"], "information_content": 100.0}
{"id": "MONDO:0006882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orchitis", "equivalent_identifiers": ["MONDO:0006882", "DOID:2518", "EFO:1001078", "UMLS:C0029191", "MESH:D009920", "MEDDRA:10031064", "MEDDRA:10031069", "MEDDRA:10062590", "NCIT:C97145", "SNOMEDCT:274718005", "medgen:18191", "ICD10:N45.2", "HP:0100796"], "information_content": 85.5}
{"id": "MONDO:0004804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dacryoadenitis", "equivalent_identifiers": ["MONDO:0004804", "DOID:950", "UMLS:C0155223", "MEDDRA:10011840", "MEDDRA:10011842", "NCIT:C26971", "SNOMEDCT:86927009", "medgen:102328", "ICD10:H04.0", "ICD9:375.0"], "information_content": 90.9}
{"id": "MONDO:0004625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phlebitis", "equivalent_identifiers": ["MONDO:0004625", "DOID:864", "EFO:1001395", "UMLS:C0031542", "MESH:D010689", "MEDDRA:10034879", "MEDDRA:10034899", "NCIT:C38003", "SNOMEDCT:61599003", "medgen:18425", "ICD10:I80"], "information_content": 87.2}
{"id": "MONDO:0002154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichomoniasis", "equivalent_identifiers": ["MONDO:0002154", "DOID:1947", "UMLS:C0040921", "MESH:D014245", "MEDDRA:10044618", "MEDDRA:10044620", "MEDDRA:10044623", "NCIT:C35720", "SNOMEDCT:105648001", "SNOMEDCT:56335008", "medgen:52838", "icd11.foundation:1220564554", "ICD10:A59", "ICD9:131"], "information_content": 86.3}
{"id": "MONDO:0005788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatitis E", "equivalent_identifiers": ["MONDO:0005788", "DOID:4411", "EFO:0007303", "UMLS:C0085293", "MESH:D016751", "MEDDRA:10014865", "MEDDRA:10014977", "MEDDRA:10016300", "MEDDRA:10019768", "MEDDRA:10056116", "SNOMEDCT:7111000119109", "medgen:88376"], "information_content": 100.0}
{"id": "MONDO:0018769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isosporiasis", "equivalent_identifiers": ["MONDO:0018769", "DOID:2112", "orphanet:472", "EFO:0007232", "UMLS:C0311386", "MESH:D021865", "MEDDRA:10023075", "MEDDRA:10023076", "NCIT:C4076", "SNOMEDCT:371423007", "medgen:90233", "icd11.foundation:137713224", "ICD10:A07.3"], "information_content": 95.4}
{"id": "MONDO:0005875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Newcastle disease", "equivalent_identifiers": ["MONDO:0005875", "DOID:2929", "EFO:0007395", "UMLS:C0027983", "MESH:D009521", "MEDDRA:10029393", "NCIT:C34849", "medgen:10339"], "information_content": 100.0}
{"id": "MONDO:0005041", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma", "equivalent_identifiers": ["MONDO:0005041", "DOID:1686", "UMLS:C0017601", "MESH:D005901", "MEDDRA:10018304", "MEDDRA:10018326", "MEDDRA:10018332", "MEDDRA:10045894", "NCIT:C26782", "SNOMEDCT:23986001", "medgen:42224", "icd11.foundation:499924848", "ICD10:H40", "ICD9:365", "HP:0000501"], "information_content": 73.1}
{"id": "MONDO:0018077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tularemia", "equivalent_identifiers": ["MONDO:0018077", "DOID:2123", "orphanet:3392", "EFO:1001444", "UMLS:C0041351", "MESH:D014406", "MEDDRA:10017330", "MEDDRA:10045146", "MEDDRA:10045147", "MEDDRA:10046199", "MEDDRA:10060438", "NCIT:C85208", "SNOMEDCT:19265001", "medgen:22520"], "information_content": 87.2}
{"id": "MONDO:0000598", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aphasia", "equivalent_identifiers": ["MONDO:0000598", "DOID:0060046", "UMLS:C0003537", "MESH:D001037", "MEDDRA:10002948", "MEDDRA:10077899", "NCIT:C34393", "SNOMEDCT:87486003", "medgen:8159", "icd11.foundation:1167055901", "HP:0002381"], "information_content": 89.4}
{"id": "MONDO:0001956", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Capillary leak", "equivalent_identifiers": ["MONDO:0001956", "DOID:14400", "orphanet:188", "EFO:1001284", "UMLS:C0343084", "UMLS:C1382398", "MESH:D019559", "MEDDRA:10007196", "MEDDRA:10007200", "MEDDRA:10034694", "MEDDRA:10068429", "NCIT:C62578", "SNOMEDCT:1608005", "SNOMEDCT:87730004", "medgen:137987", "HP:0030005"], "information_content": 100.0}
{"id": "MONDO:0014222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 14", "equivalent_identifiers": ["MONDO:0014222", "DOID:0111936", "OMIM:615513", "UMLS:C3714976", "MEDDRA:10078281", "NCIT:C187988", "NCIT:C203458", "medgen:811535"], "information_content": 90.9}
{"id": "MONDO:0004647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "in situ carcinoma", "equivalent_identifiers": ["MONDO:0004647", "DOID:8719", "UMLS:C0007099", "MESH:D002278", "MEDDRA:10007353", "MEDDRA:10007402", "MEDDRA:10061450", "NCIT:C2917", "SNOMEDCT:109355002", "SNOMEDCT:1187138006", "medgen:763", "ICD10:D09.9", "ICD9:230-234.99"], "information_content": 66.9}
{"id": "MONDO:0000337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exanthema subitum", "equivalent_identifiers": ["MONDO:0000337", "DOID:0050495", "EFO:1001320", "UMLS:C0015231", "UMLS:C0595993", "MESH:D005077", "MEDDRA:10015586", "MEDDRA:10039222", "MEDDRA:10039223", "MEDDRA:10050048", "NCIT:C128420", "SNOMEDCT:54385001", "medgen:41909", "ICD10:B08.2", "ICD9:058.1"], "information_content": 100.0}
{"id": "MONDO:0001103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "giardiasis", "equivalent_identifiers": ["MONDO:0001103", "DOID:10718", "UMLS:C0017536", "MESH:D005873", "MEDDRA:0017536", "MEDDRA:10018260", "MEDDRA:10018261", "MEDDRA:10018262", "MEDDRA:10064239", "SNOMEDCT:10679007", "SNOMEDCT:58265007", "medgen:42213", "icd11.foundation:433310499", "ICD10:A07.1", "ICD9:007.1"], "information_content": 100.0}
{"id": "MONDO:0002249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytosis", "equivalent_identifiers": ["MONDO:0002249", "DOID:2228", "UMLS:C0836924", "UMLS:C0857460", "MESH:D013922", "MEDDRA:10021671", "MEDDRA:10021674", "MEDDRA:10035547", "MEDDRA:10043549", "MEDDRA:10043550", "MEDDRA:10043563", "MEDDRA:10051608", "MEDDRA:10056923", "MEDDRA:10069776", "MEDDRA:10074399", "NCIT:C162107", "NCIT:C35530", "SNOMEDCT:415115007", "SNOMEDCT:6631009", "medgen:163397", "ICD10:D75.83", "HP:0001894"], "information_content": 72.2}
{"id": "MONDO:0002427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar disorder", "equivalent_identifiers": ["MONDO:0002427", "DOID:2786", "UMLS:C0007760", "MESH:D002526", "MEDDRA:10051087", "SNOMEDCT:223176004", "medgen:40186"], "information_content": 64.4}
{"id": "MONDO:0015129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Addison Disease", "equivalent_identifiers": ["MONDO:0015129", "DOID:13774", "OMIM:240200", "orphanet:101959", "UMLS:C0001403", "UMLS:C1868690", "UMLS:C5848257", "MESH:D000075262", "MESH:D000224", "MEDDRA:10001130", "MEDDRA:10013096", "MEDDRA:10036696", "MEDDRA:10052381", "MEDDRA:10085976", "NCIT:C26689", "SNOMEDCT:363732003", "SNOMEDCT:373662000", "medgen:1324", "ICD10:E27.1", "HP:0008207"], "information_content": 78.0}
{"id": "MONDO:0005664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bartonellosis", "equivalent_identifiers": ["MONDO:0005664", "DOID:11102", "EFO:0007166", "UMLS:C0004771", "MESH:D001474", "MEDDRA:10004145", "MEDDRA:10044583", "MEDDRA:10054150", "MEDDRA:10080447", "NCIT:C84586", "SNOMEDCT:266123003", "medgen:504", "icd11.foundation:1938462328", "ICD10:A44", "ICD9:088.0"], "information_content": 88.2}
{"id": "MONDO:0001280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroiditis", "equivalent_identifiers": ["MONDO:0001280", "DOID:11406", "orphanet:280892", "UMLS:C0008526", "MESH:D002833", "MEDDRA:10008792", "NCIT:C35111", "SNOMEDCT:16553002", "medgen:40282", "icd11.foundation:1884626736"], "information_content": 88.2}
{"id": "MONDO:0003832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement deficiency", "equivalent_identifiers": ["MONDO:0003832", "DOID:626", "orphanet:459345", "UMLS:C0272242", "UMLS:C5197806", "UMLS:C5891164", "MESH:D000081208", "MEDDRA:10075551", "NCIT:C4691", "SNOMEDCT:24743004", "medgen:82898", "HP:0004431"], "information_content": 75.8}
{"id": "MONDO:0017767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rheumatic fever", "equivalent_identifiers": ["MONDO:0017767", "DOID:1586", "orphanet:3099", "EFO:1001160", "UMLS:C0035436", "UMLS:C0264743", "MESH:D012213", "MEDDRA:10001060", "MEDDRA:10039054", "MEDDRA:10072738", "MEDDRA:10075557", "NCIT:C34984", "SNOMEDCT:195528001", "SNOMEDCT:24363009", "SNOMEDCT:58718002", "SNOMEDCT:81077008", "medgen:48448", "ICD10:I00", "ICD10:I00-I02", "ICD9:390", "ICD9:390-392.99"], "information_content": 100.0}
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{"id": "MONDO:0005297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urethritis", "equivalent_identifiers": ["MONDO:0005297", "DOID:1343", "EFO:0003878", "UMLS:C0041976", "UMLS:C0311389", "UMLS:C1112709", "MESH:D014526", "MEDDRA:10029545", "MEDDRA:10046480", "MEDDRA:10046487", "MEDDRA:10046488", "MEDDRA:10046492", "MEDDRA:10057747", "MEDDRA:10073194", "NCIT:C26904", "NCIT:C27079", "SNOMEDCT:31822004", "SNOMEDCT:84619001", "medgen:52934", "ICD10:N34.2", "ICD9:597.80", "HP:0500006"], "information_content": 87.2}
{"id": "MONDO:0015696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Good syndrome", "equivalent_identifiers": ["MONDO:0015696", "DOID:0060028", "orphanet:169105", "UMLS:C0221027", "MEDDRA:10079838", "SNOMEDCT:9893005", "medgen:67437", "icd11.foundation:812332735"], "information_content": 100.0}
{"id": "MONDO:0002102", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cheilitis", "equivalent_identifiers": ["MONDO:0002102", "DOID:1762", "UMLS:C0007971", "UMLS:C4280288", "MESH:D002613", "MEDDRA:10008417", "MEDDRA:10049345", "NCIT:C79545", "SNOMEDCT:7847004", "medgen:3349", "icd11.foundation:482914030", "HP:0100825"], "information_content": 90.9}
{"id": "MONDO:0001150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocephalus", "equivalent_identifiers": ["MONDO:0001150", "DOID:10908", "UMLS:C0020255", "MESH:D006849", "MEDDRA:10020508", "MEDDRA:10020512", "MEDDRA:10020513", "NCIT:C3111", "SNOMEDCT:230745008", "medgen:9335", "icd11.foundation:574533444", "ICD10:G91", "HP:0000238"], "information_content": 78.5}
{"id": "MONDO:0005720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cowpox", "equivalent_identifiers": ["MONDO:0005720", "DOID:8956", "EFO:0007225", "UMLS:C0010232", "MESH:D015605", "MEDDRA:10011238", "MEDDRA:10011242", "SNOMEDCT:70090004", "medgen:3261", "icd11.foundation:1205745537", "ICD10:B08.010", "ICD9:051.01"], "information_content": 100.0}
{"id": "MONDO:0004754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rectal prolapse", "equivalent_identifiers": ["MONDO:0004754", "DOID:9307", "UMLS:C0034888", "MESH:D012005", "MEDDRA:10038077", "NCIT:C34973", "SNOMEDCT:57773001", "medgen:11151", "icd11.foundation:231914102", "ICD10:K62.3", "ICD9:569.1", "HP:0002035"], "information_content": 92.8}
{"id": "MONDO:0017572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tick-borne encephalitis", "equivalent_identifiers": ["MONDO:0017572", "DOID:0050175", "orphanet:297", "EFO:1001309", "UMLS:C0014054", "UMLS:C0014061", "UMLS:C0015632", "MESH:D004675", "MEDDRA:10007931", "MEDDRA:10043847", "MEDDRA:10043848", "MEDDRA:10056378", "MEDDRA:10056421", "NCIT:C34579", "SNOMEDCT:16901001", "SNOMEDCT:186591007", "SNOMEDCT:414093008", "SNOMEDCT:415821008", "medgen:4034", "icd11.foundation:835129952", "ICD10:A84.1", "ICD9:063.2"], "information_content": 100.0}
{"id": "MONDO:0001040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasopharyngitis", "equivalent_identifiers": ["MONDO:0001040", "DOID:10460", "UMLS:C0027441", "UMLS:C0155826", "MESH:D009304", "MEDDRA:10009021", "MEDDRA:10028810", "MEDDRA:10067475", "NCIT:C34837", "SNOMEDCT:47841006", "SNOMEDCT:51476001", "medgen:6527", "ICD10:J31.1", "ICD9:472.2"], "information_content": 92.8}
{"id": "MONDO:0008800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia with limb anomalies", "equivalent_identifiers": ["MONDO:0008800", "DOID:0060861", "OMIM:206920", "orphanet:1106", "UMLS:C0599973", "MESH:C537769", "SNOMEDCT:703403003", "medgen:154638"], "information_content": 100.0}
{"id": "MONDO:0001718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scleritis", "equivalent_identifiers": ["MONDO:0001718", "DOID:13452", "UMLS:C0036416", "MESH:D015423", "MEDDRA:10039705", "MEDDRA:10039707", "MEDDRA:10039709", "NCIT:C119046", "SNOMEDCT:78370002", "medgen:48585", "icd11.foundation:2097802831", "ICD10:H15.0", "ICD9:379.00", "HP:0100532"], "information_content": 83.6}
{"id": "MONDO:0001371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "protein-energy malnutrition", "equivalent_identifiers": ["MONDO:0001371", "DOID:11801", "EFO:0009563", "UMLS:C0033677", "MESH:D011502", "MEDDRA:10026716", "MEDDRA:10037007", "MEDDRA:10037027", "MEDDRA:10046117", "NCIT:C34952", "SNOMEDCT:238107002", "medgen:19521", "ICD10:E46", "ICD9:263.9"], "information_content": 90.9}
{"id": "MONDO:0006810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intracranial hypertension", "equivalent_identifiers": ["MONDO:0006810", "DOID:9428", "EFO:1000992", "UMLS:C0151740", "MESH:D019586", "MEDDRA:10011570", "MEDDRA:10020780", "MEDDRA:10021665", "MEDDRA:10022764", "MEDDRA:10022765", "MEDDRA:10022772", "MEDDRA:10022773", "MEDDRA:10022774", "MEDDRA:10036642", "MEDDRA:10036647", "NCIT:C187268", "NCIT:C84791", "SNOMEDCT:271719001", "medgen:56241", "HP:0002516"], "information_content": 90.9}
{"id": "MONDO:0850199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NK cell deficiency", "equivalent_identifiers": ["MONDO:0850199", "DOID:0080709", "UMLS:C4693357", "medgen:1644714"], "information_content": 100.0}
{"id": "MONDO:0019167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgA vasculitis", "equivalent_identifiers": ["MONDO:0019167", "DOID:11123", "orphanet:761", "EFO:1000965", "UMLS:C0034152", "MESH:D011695", "MEDDRA:10001716", "MEDDRA:10001735", "MEDDRA:10002214", "MEDDRA:10002215", "MEDDRA:10002217", "MEDDRA:10019615", "MEDDRA:10019616", "MEDDRA:10019617", "MEDDRA:10037551", "MEDDRA:10037552", "MEDDRA:10037565", "MEDDRA:10039658", "MEDDRA:10082959", "NCIT:C34963", "SNOMEDCT:191306005", "SNOMEDCT:86074002", "medgen:48265", "icd11.foundation:1629105375", "ICD10:D69.0", "ICD9:287.0"], "information_content": 100.0}
{"id": "MONDO:0005820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lassa fever", "equivalent_identifiers": ["MONDO:0005820", "DOID:9537", "orphanet:99824", "EFO:0007338", "UMLS:C0023092", "MESH:D007835", "MEDDRA:10023927", "NCIT:C128418", "SNOMEDCT:19065005", "medgen:7276", "icd11.foundation:515020316", "ICD10:A96.2"], "information_content": 100.0}
{"id": "MONDO:0005281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gallbladder disorder", "equivalent_identifiers": ["MONDO:0005281", "DOID:0060262", "EFO:0003832", "UMLS:C0016977", "MESH:D005705", "MEDDRA:10013103", "MEDDRA:10017625", "MEDDRA:10017626", "MEDDRA:10017627", "MEDDRA:10017628", "MEDDRA:10017641", "MEDDRA:10045789", "MEDDRA:10087483", "NCIT:C34631", "SNOMEDCT:39621005", "medgen:8947", "ICD10:K82.9", "ICD9:575.9"], "information_content": 68.2}
{"id": "MONDO:0003330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urinary tract obstruction", "equivalent_identifiers": ["MONDO:0003330", "DOID:5200", "EFO:0009571", "UMLS:C0178879", "MEDDRA:10029984", "MEDDRA:10046548", "MEDDRA:10046587", "MEDDRA:10046710", "MEDDRA:10061574", "NCIT:C3675", "NCIT:C79805", "SNOMEDCT:7163005", "medgen:64247", "ICD10:N13.9", "ICD9:599.6"], "information_content": 83.6}
{"id": "MONDO:0000986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pleurisy", "equivalent_identifiers": ["MONDO:0000986", "DOID:10247", "EFO:1001825", "UMLS:C0029799", "UMLS:C0032231", "MESH:D010998", "MEDDRA:10035618", "MEDDRA:10035619", "MEDDRA:10035624", "NCIT:C26860", "SNOMEDCT:196075003", "medgen:10807", "icd11.foundation:317852053", "ICD9:511.8", "HP:0002102"], "information_content": 88.2}
{"id": "MONDO:0002134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "physiological sexual disorder", "equivalent_identifiers": ["MONDO:0002134", "DOID:1876", "UMLS:C0237873", "MESH:D012735", "medgen:66756", "ICD10:F52.9"], "information_content": 90.9}
{"id": "MONDO:0002013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphangioma", "equivalent_identifiers": ["MONDO:0002013", "DOID:1475", "orphanet:2415", "UMLS:C0024221", "MESH:D008202", "MEDDRA:10025219", "MEDDRA:10025220", "NCIT:C8965", "SNOMEDCT:253057002", "SNOMEDCT:254836000", "SNOMEDCT:400178008", "SNOMEDCT:69044001", "medgen:6153", "ICD10:D18.1", "ICD9:228.1", "HP:0100764"], "information_content": 79.6}
{"id": "MONDO:0005824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Legionnaires' disease", "equivalent_identifiers": ["MONDO:0005824", "DOID:10457", "EFO:0007343", "UMLS:C0023241", "MESH:D007877", "MEDDRA:10024181", "MEDDRA:10024182", "MEDDRA:10035718", "MEDDRA:10054143", "NCIT:C128339", "SNOMEDCT:195889001", "SNOMEDCT:269574000", "medgen:9705", "ICD10:A48.1", "ICD9:482.84"], "information_content": 95.4}
{"id": "MONDO:0002770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vaginal discharge", "equivalent_identifiers": ["MONDO:0002770", "DOID:3767", "EFO:0009365", "UMLS:C0227791", "UMLS:C0566969", "UMLS:C0566986", "MESH:D019522", "MEDDRA:10013069", "MEDDRA:10046901", "MEDDRA:10058695", "MEDDRA:10078231", "NCIT:C50795", "SNOMEDCT:271939006", "SNOMEDCT:289567003", "medgen:65302", "icd11.foundation:2123556104", "HP:0034269"], "information_content": 76.0}
{"id": "MONDO:0005825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leptospirosis", "equivalent_identifiers": ["MONDO:0005825", "DOID:2297", "orphanet:509", "EFO:0007344", "UMLS:C0023364", "UMLS:C0686708", "MESH:D007922", "MEDDRA:10024234", "MEDDRA:10024238", "MEDDRA:10024241", "NCIT:C84825", "SNOMEDCT:77377001", "SNOMEDCT:93465000", "medgen:7309", "icd11.foundation:751399056", "ICD10:A27", "ICD10:A27.0", "ICD9:100", "ICD9:100.0"], "information_content": 95.4}
{"id": "MONDO:0006807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal perforation", "equivalent_identifiers": ["MONDO:0006807", "DOID:2074", "EFO:1000987", "UMLS:C0021845", "MESH:D007416", "MEDDRA:10006056", "MEDDRA:10022694", "MEDDRA:10022696", "MEDDRA:10034385", "MEDDRA:10034406", "MEDDRA:10034413", "MEDDRA:10034421", "NCIT:C39611", "SNOMEDCT:56905009", "medgen:9525", "ICD9:569.83", "HP:0031368"], "information_content": 84.8}
{"id": "MONDO:0004525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scabies", "equivalent_identifiers": ["MONDO:0004525", "DOID:8295", "UMLS:C0036262", "MESH:D012532", "MEDDRA:10039502", "MEDDRA:10039511", "MEDDRA:10039512", "NCIT:C34998", "SNOMEDCT:128869009", "medgen:48566", "icd11.foundation:876005123", "ICD10:B86", "ICD9:133.0"], "information_content": 95.4}
{"id": "MONDO:0003963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse infiltrative lymphocytosis syndrome", "equivalent_identifiers": ["MONDO:0003963", "DOID:6677", "UMLS:C1333292", "MEDDRA:10086255", "NCIT:C35699", "SNOMEDCT:449784008", "medgen:232428"], "information_content": 100.0}
{"id": "MONDO:0005649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "appendicitis", "equivalent_identifiers": ["MONDO:0005649", "DOID:8337", "EFO:0007149", "UMLS:C0003615", "MESH:D001064", "MEDDRA:10003011", "MEDDRA:10003014", "MEDDRA:10045550", "NCIT:C35145", "SNOMEDCT:74400008", "medgen:1630", "icd11.foundation:1881255733", "ICD10:K37", "ICD9:540-543.99", "HP:6000143"], "information_content": 95.4}
{"id": "MONDO:0008233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pheochromocytoma", "equivalent_identifiers": ["MONDO:0008233", "DOID:0050771", "OMIM:171300", "UMLS:C0031511", "UMLS:C3149711", "MESH:D010673", "medgen:18419", "HP:0002666"], "information_content": 90.9}
{"id": "MONDO:0004830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fasciitis", "equivalent_identifiers": ["MONDO:0004830", "DOID:9598", "UMLS:C0015645", "MESH:D005208", "MEDDRA:10016228", "MEDDRA:10016230", "MEDDRA:10016231", "MEDDRA:10016238", "NCIT:C50559", "SNOMEDCT:36948007", "medgen:4658", "ICD10:M72.9", "ICD9:729.4", "HP:0100537"], "information_content": 85.5}
{"id": "MONDO:0005173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "actinic keratosis", "equivalent_identifiers": ["MONDO:0005173", "DOID:8866", "EFO:0002496", "UMLS:C0022602", "UMLS:C1442958", "MESH:D055623", "MEDDRA:10000614", "MEDDRA:10039979", "MEDDRA:10039980", "MEDDRA:10041304", "NCIT:C3148", "SNOMEDCT:201101007", "SNOMEDCT:856006", "medgen:9627", "icd11.foundation:1803982621", "ICD10:L57.0", "ICD9:702.0", "HP:0025127"], "information_content": 79.6}
{"id": "MONDO:0017775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melioidosis", "equivalent_identifiers": ["MONDO:0017775", "DOID:5052", "orphanet:31202", "UMLS:C0025229", "UMLS:C0348971", "MESH:D008554", "MEDDRA:10027165", "MEDDRA:10037137", "MEDDRA:10053031", "MEDDRA:10069748", "NCIT:C128336", "SNOMEDCT:186312003", "SNOMEDCT:428111003", "medgen:44346", "icd11.foundation:2129350166", "ICD10:A24.9", "ICD9:025"], "information_content": 95.4}
{"id": "MONDO:0005397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "goiter", "equivalent_identifiers": ["MONDO:0005397", "DOID:12176", "EFO:0004283", "UMLS:C0018021", "MESH:D006042", "MEDDRA:10014841", "MEDDRA:10018491", "MEDDRA:10018497", "MEDDRA:10018498", "MEDDRA:10018502", "MEDDRA:10043723", "MEDDRA:10064244", "MEDDRA:10078031", "MEDDRA:10079779", "NCIT:C26785", "SNOMEDCT:3716002", "medgen:42270", "ICD10:E04.9", "ICD9:240.9", "HP:0000853"], "information_content": 79.9}
{"id": "MONDO:0005380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteonecrosis", "equivalent_identifiers": ["MONDO:0005380", "DOID:0080008", "DOID:10159", "orphanet:399158", "EFO:0004259", "UMLS:C0003977", "UMLS:C0029445", "UMLS:C0085660", "UMLS:C0158442", "UMLS:C0158449", "UMLS:C0158450", "UMLS:C0158451", "UMLS:C0520474", "UMLS:C0745048", "UMLS:C0877326", "MESH:D010020", "MEDDRA:10003459", "MEDDRA:10003460", "MEDDRA:10003461", "MEDDRA:10003462", "MEDDRA:10003463", "MEDDRA:10003464", "MEDDRA:10003465", "MEDDRA:10003467", "MEDDRA:10005994", "MEDDRA:10023264", "MEDDRA:10028855", "MEDDRA:10031239", "MEDDRA:10031264", "MEDDRA:10049824", "NCIT:C27220", "NCIT:C34404", "NCIT:C34880", "NCIT:C35226", "NCIT:C35476", "NCIT:C35517", "SNOMEDCT:1335749006", "SNOMEDCT:203475004", "SNOMEDCT:203478002", "SNOMEDCT:240196003", "SNOMEDCT:268030004", "SNOMEDCT:398199007", "SNOMEDCT:62100001", "SNOMEDCT:72756009", "medgen:45249", "icd11.foundation:536467755", "ICD10:M87", "ICD10:M87.9", "ICD9:732.3", "ICD9:733.41", "ICD9:733.42", "ICD9:733.43", "ICD9:733.44", "HP:0010885"], "information_content": 76.0}
{"id": "MONDO:0016003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ehrlichiosis", "equivalent_identifiers": ["MONDO:0016003", "DOID:10242", "orphanet:1902", "UMLS:C0085399", "UMLS:C0343771", "MESH:D016873", "MEDDRA:10020429", "SNOMEDCT:240626005", "medgen:39039", "icd11.foundation:1116297863", "ICD10:A77.4", "ICD9:082.4"], "information_content": 95.4}
{"id": "MONDO:0000755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectopic pregnancy", "equivalent_identifiers": ["MONDO:0000755", "DOID:0060329", "UMLS:C0032987", "MESH:D011271", "MEDDRA:10014166", "MEDDRA:10014169", "MEDDRA:10015765", "MEDDRA:10015865", "MEDDRA:10036559", "MEDDRA:10045857", "MEDDRA:10072039", "NCIT:C34945", "SNOMEDCT:34801009", "medgen:18618", "icd11.foundation:1563334645", "ICD10:O00", "ICD9:633", "HP:0031456"], "information_content": 85.5}
{"id": "MONDO:0004627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenitis", "equivalent_identifiers": ["MONDO:0004627", "DOID:8643", "UMLS:C0013298", "MESH:D004382", "MEDDRA:10013864", "NCIT:C94409", "SNOMEDCT:72007001", "medgen:4419", "icd11.foundation:1595026136", "ICD10:K29.8", "ICD9:535.6", "HP:0033117"], "information_content": 90.9}
{"id": "MONDO:0001342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysgammaglobulinemia", "equivalent_identifiers": ["MONDO:0001342", "DOID:11702", "UMLS:C0013374", "MESH:D004406", "SNOMEDCT:123782009", "medgen:41679", "HP:0002961"], "information_content": 85.5}
{"id": "MONDO:0001437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary alveolar proteinosis", "equivalent_identifiers": ["MONDO:0001437", "DOID:12120", "UMLS:C0034050", "UMLS:C5400698", "MESH:D011649", "MEDDRA:10001881", "MEDDRA:10037316", "NCIT:C85037", "SNOMEDCT:10501004", "medgen:1763046", "icd11.foundation:1869739196", "ICD10:J84.01", "ICD9:516.0", "HP:0006517"], "information_content": 83.1}
{"id": "MONDO:0005276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dental caries", "equivalent_identifiers": ["MONDO:0005276", "DOID:216", "EFO:0003819", "UMLS:C0011334", "UMLS:C4280623", "MESH:D003731", "MEDDRA:10007666", "MEDDRA:10011947", "MEDDRA:10012318", "MEDDRA:10044020", "MEDDRA:10044023", "MEDDRA:10044027", "MEDDRA:10048297", "MEDDRA:10048298", "MEDDRA:10085528", "NCIT:C52593", "SNOMEDCT:80967001", "medgen:8288", "icd11.foundation:1983306720", "ICD10:K02.6", "ICD9:521.0", "ICD9:521.07", "HP:0000670"], "information_content": 87.2}
{"id": "MONDO:0019562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "localized scleroderma", "equivalent_identifiers": ["MONDO:0019562", "DOID:8472", "orphanet:90289", "EFO:1001361", "UMLS:C0036420", "MESH:D012594", "MEDDRA:10009206", "MEDDRA:10039712", "NCIT:C72069", "SNOMEDCT:201048007", "medgen:48586", "icd11.foundation:1430740369", "ICD10:L94.0", "ICD9:701.0"], "information_content": 84.8}
{"id": "MONDO:0005152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypopituitarism", "equivalent_identifiers": ["MONDO:0005152", "DOID:9406", "EFO:0001380", "UMLS:C0020635", "MESH:D007018", "MEDDRA:10021066", "MEDDRA:10021067", "MEDDRA:10022466", "MEDDRA:10035093", "NCIT:C62591", "SNOMEDCT:74728003", "medgen:9386", "icd11.foundation:768216194", "HP:0040075"], "information_content": 76.7}
{"id": "MONDO:0000728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ptosis", "equivalent_identifiers": ["MONDO:0000728", "DOID:0060260", "UMLS:C0005745", "MESH:D001763", "MEDDRA:10005157", "MEDDRA:10015995", "MEDDRA:10037273", "MEDDRA:10037274", "NCIT:C27298", "SNOMEDCT:11934000", "medgen:2287", "ICD10:H02.4", "ICD9:374.3", "HP:0000508"], "information_content": 86.3}
{"id": "MONDO:0018305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic granulomatous disease", "equivalent_identifiers": ["MONDO:0018305", "DOID:3265", "OMIM.PS:306400", "orphanet:379", "UMLS:C0018203", "MESH:D006105", "MEDDRA:10008906", "NCIT:C26788", "SNOMEDCT:387759001", "medgen:5377", "icd11.foundation:1329764681", "ICD10:D71"], "information_content": 86.3}
{"id": "MONDO:0006656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortitis", "equivalent_identifiers": ["MONDO:0006656", "DOID:519", "EFO:1000816", "UMLS:C0003509", "MESH:D001025", "MEDDRA:10002921", "MEDDRA:10002922", "NCIT:C97085", "SNOMEDCT:70933002", "medgen:8154", "ICD10:I77.6"], "information_content": 95.4}
{"id": "MONDO:0013607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monocytopenia with susceptibility to infections", "equivalent_identifiers": ["MONDO:0013607", "DOID:0111947", "OMIM:614172", "orphanet:228423", "UMLS:C3280030", "MESH:D000077428", "MEDDRA:10086705", "SNOMEDCT:778024005", "medgen:481660", "icd11.foundation:1077753382"], "information_content": 100.0}
{"id": "MONDO:0001590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "quadriplegia", "equivalent_identifiers": ["MONDO:0001590", "DOID:12835", "EFO:0009684", "UMLS:C0034372", "MESH:D011782", "MEDDRA:10037714", "MEDDRA:10037719", "MEDDRA:10043385", "NCIT:C50721", "SNOMEDCT:11538006", "medgen:19617", "ICD10:G82.5", "ICD9:344.00", "HP:0002445"], "information_content": 95.4}
{"id": "MONDO:0009174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "protein-losing enteropathy", "equivalent_identifiers": ["MONDO:0009174", "DOID:10611", "OMIM:226300", "orphanet:566175", "UMLS:C0033680", "UMLS:C4538570", "MESH:D011504", "MEDDRA:10085728", "SNOMEDCT:1279887007", "SNOMEDCT:22542007", "SNOMEDCT:66972006", "medgen:19522", "icd11.foundation:1821383469", "HP:0002243"], "information_content": 100.0}
{"id": "MONDO:0018866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi-Goutieres syndrome", "equivalent_identifiers": ["MONDO:0018866", "DOID:0050629", "OMIM.PS:225750", "orphanet:51", "UMLS:C0393591", "MESH:C535607", "MEDDRA:10083189", "SNOMEDCT:230312006", "medgen:97953", "ICD10:G31.8"], "information_content": 84.2}
{"id": "MONDO:0006005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Venezuelan equine encephalitis", "equivalent_identifiers": ["MONDO:0006005", "DOID:9584", "EFO:0007534", "UMLS:C0014078", "UMLS:C1561973", "MESH:D004685", "MEDDRA:10014611", "MEDDRA:10047204", "MEDDRA:10047205", "MEDDRA:10047206", "NCIT:C35121", "SNOMEDCT:417067005", "SNOMEDCT:417702007", "medgen:4036", "icd11.foundation:608978790", "ICD10:A92.2", "ICD9:066.2"], "information_content": 100.0}
{"id": "MONDO:0003757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paraplegia", "equivalent_identifiers": ["MONDO:0003757", "DOID:607", "EFO:0009679", "UMLS:C0030486", "MESH:D010264", "MEDDRA:10024131", "MEDDRA:10033814", "MEDDRA:10033892", "MEDDRA:10050045", "NCIT:C50687", "SNOMEDCT:60389000", "medgen:45323", "icd11.foundation:1212533558", "ICD10:G82.2", "ICD9:344.1", "HP:0010550"], "information_content": 67.9}
{"id": "MONDO:0005834", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphogranuloma venereum", "equivalent_identifiers": ["MONDO:0005834", "DOID:13819", "EFO:0007353", "UMLS:C0024286", "MESH:D008219", "MEDDRA:10008547", "MEDDRA:10025297", "MEDDRA:10049604", "NCIT:C26822", "SNOMEDCT:186946009", "medgen:44221", "ICD10:A55", "ICD9:099.1"], "information_content": 100.0}
{"id": "MONDO:0019186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Q fever", "equivalent_identifiers": ["MONDO:0019186", "DOID:11100", "orphanet:781", "EFO:0005224", "UMLS:C0034362", "MESH:D011778", "MEDDRA:10011250", "MEDDRA:10037688", "MEDDRA:10037692", "MEDDRA:10067588", "NCIT:C34970", "SNOMEDCT:186788009", "medgen:48290", "icd11.foundation:2113860626", "ICD10:A78", "ICD9:083.0"], "information_content": 100.0}
{"id": "MONDO:0006814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iritis", "equivalent_identifiers": ["MONDO:0006814", "DOID:1406", "EFO:1000997", "UMLS:C0022081", "MESH:D007500", "MEDDRA:10022955", "NCIT:C50621", "SNOMEDCT:65074000", "medgen:7160", "HP:0001101"], "information_content": 86.3}
{"id": "MONDO:0004235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diverticulitis", "equivalent_identifiers": ["MONDO:0004235", "DOID:7475", "EFO:1001460", "UMLS:C0012813", "MESH:D004238", "MEDDRA:10013538", "MEDDRA:10013543", "NCIT:C26752", "SNOMEDCT:18126004", "SNOMEDCT:307496006", "medgen:41629"], "information_content": 89.4}
{"id": "DOID:5154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "borna disease", "equivalent_identifiers": ["DOID:5154", "UMLS:C0006023", "MESH:D001890"]}
{"id": "MONDO:0009176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermodysplasia verruciformis", "equivalent_identifiers": ["MONDO:0009176", "DOID:13777", "orphanet:302", "UMLS:C0014522", "MESH:D004819", "MEDDRA:10052339", "MEDDRA:10052357", "NCIT:C126877", "SNOMEDCT:19138001", "medgen:41831", "icd11.foundation:1191479808"], "information_content": 86.3}
{"id": "MONDO:0017570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukocyte adhesion deficiency", "equivalent_identifiers": ["MONDO:0017570", "DOID:611", "DOID:6612", "orphanet:2968", "EFO:1001359", "UMLS:C0242597", "UMLS:C0272187", "MESH:D018370", "MEDDRA:10090483", "NCIT:C27874", "SNOMEDCT:77358003", "medgen:124419", "icd11.foundation:317341989"], "information_content": 82.1}
{"id": "MONDO:0005116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Whipple disease", "equivalent_identifiers": ["MONDO:0005116", "DOID:8476", "orphanet:3452", "EFO:0000775", "UMLS:C0023788", "MESH:D008061", "MEDDRA:10047931", "MEDDRA:10047933", "NCIT:C85228", "SNOMEDCT:41545003", "medgen:7347", "icd11.foundation:1131038233", "ICD10:K90.81", "ICD9:040.2"], "information_content": 100.0}
{"id": "MONDO:0000744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung abscess", "equivalent_identifiers": ["MONDO:0000744", "DOID:0060317", "EFO:1001362", "UMLS:C0024110", "MESH:D008169", "MEDDRA:10000301", "MEDDRA:10025028", "MEDDRA:10025030", "NCIT:C99090", "SNOMEDCT:73452002", "medgen:7397", "ICD10:J85.2", "ICD9:513.0", "HP:0025044"], "information_content": 100.0}
{"id": "MONDO:0001220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoparathyroidism", "equivalent_identifiers": ["MONDO:0001220", "DOID:11199", "EFO:0009451", "UMLS:C0020626", "MESH:D007011", "MEDDRA:10021041", "NCIT:C78350", "SNOMEDCT:36976004", "medgen:6985", "icd11.foundation:1708733050", "ICD10:E20", "ICD9:252.1", "HP:0000829"], "information_content": 80.6}
{"id": "MONDO:0005644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amebiasis", "equivalent_identifiers": ["MONDO:0005644", "DOID:9181", "EFO:0007144", "UMLS:C0002438", "MESH:D000562", "MEDDRA:10001916", "MEDDRA:10001917", "MEDDRA:10001918", "MEDDRA:10001980", "MEDDRA:10001981", "MEDDRA:10001982", "MEDDRA:10001983", "NCIT:C157785", "NCIT:C84551", "SNOMEDCT:105637008", "SNOMEDCT:111910009", "medgen:1857", "ICD10:A06", "ICD9:006"], "information_content": 92.8}
{"id": "MONDO:0019220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inborn disorder of cobalamin metabolism and transport", "equivalent_identifiers": ["MONDO:0019220", "DOID:0050731", "orphanet:79171", "UMLS:C5681844", "medgen:1826150", "icd11.foundation:936546617"], "information_content": 78.5}
{"id": "MONDO:0011664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency due to CD25 deficiency", "equivalent_identifiers": ["MONDO:0011664", "DOID:0111968", "OMIM:606367", "orphanet:169100", "UMLS:C1853392", "MESH:C565232", "medgen:377894", "icd11.foundation:1705860123"], "information_content": 100.0}
{"id": "MONDO:0005900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parotitis", "equivalent_identifiers": ["MONDO:0005900", "DOID:10301", "EFO:0007423", "UMLS:C0030583", "MESH:D010309", "MEDDRA:10034037", "MEDDRA:10034038", "NCIT:C114281", "SNOMEDCT:14756005", "medgen:45335", "ICD10:K11.2", "HP:0011850"], "information_content": 95.4}
{"id": "MONDO:0001926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ureter Disorder", "equivalent_identifiers": ["MONDO:0001926", "DOID:1426", "UMLS:C0403608", "MESH:D014515", "MEDDRA:10046400", "MEDDRA:10049751", "MEDDRA:10062220", "NCIT:C27148", "SNOMEDCT:128073008", "medgen:98018"], "information_content": 71.9}
{"id": "MONDO:0019365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scrub typhus", "equivalent_identifiers": ["MONDO:0019365", "DOID:13371", "orphanet:83317", "EFO:0007480", "UMLS:C0036472", "MESH:D012612", "MEDDRA:10039132", "MEDDRA:10039766", "MEDDRA:10044719", "SNOMEDCT:271425001", "medgen:48591", "icd11.foundation:1695340384", "ICD10:A75.3", "ICD9:081.2"], "information_content": 100.0}
{"id": "MONDO:0017880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rift valley fever", "equivalent_identifiers": ["MONDO:0017880", "DOID:1328", "orphanet:319251", "UMLS:C0035613", "MESH:D012295", "MEDDRA:10039143", "MEDDRA:10039145", "NCIT:C128419", "SNOMEDCT:402917003", "medgen:20589", "icd11.foundation:854137188", "ICD10:A92.4"], "information_content": 100.0}
{"id": "MONDO:0004779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epididymitis", "equivalent_identifiers": ["MONDO:0004779", "DOID:9402", "UMLS:C0014534", "MESH:D004823", "MEDDRA:10015000", "MEDDRA:10015003", "NCIT:C12328", "SNOMEDCT:31070006", "medgen:4986", "ICD10:N45.1", "HP:0000031"], "information_content": 79.9}
{"id": "MONDO:0001170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemiplegia", "equivalent_identifiers": ["MONDO:0001170", "DOID:10969", "EFO:0009453", "UMLS:C0018991", "UMLS:C0392550", "MESH:D006429", "MEDDRA:10019468", "MEDDRA:10019473", "MEDDRA:10021748", "MEDDRA:10033826", "NCIT:C64329", "SNOMEDCT:1593000", "SNOMEDCT:50582007", "medgen:9196", "icd11.foundation:1641958762", "ICD9:343.4", "HP:0002301"], "information_content": 86.3}
{"id": "MONDO:0010138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyrotoxicosis", "equivalent_identifiers": ["MONDO:0010138", "DOID:7997", "EFO:0009190", "UMLS:C0040156", "MESH:D013971", "MEDDRA:10043789", "NCIT:C61469", "SNOMEDCT:286909009", "SNOMEDCT:90739004", "medgen:11814", "icd11.foundation:1470387017", "ICD10:E05.9", "ICD9:242"], "information_content": 92.8}
{"id": "MONDO:0005980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tick infestation", "equivalent_identifiers": ["MONDO:0005980", "DOID:4109", "EFO:0007508", "UMLS:C0040196", "MESH:D013984", "medgen:21178"], "information_content": 95.4}
{"id": "MONDO:0006500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemangioma", "equivalent_identifiers": ["MONDO:0006500", "DOID:255", "EFO:1000635", "UMLS:C0018916", "MESH:D006391", "MEDDRA:10018814", "MEDDRA:10018819", "MEDDRA:10019386", "MEDDRA:10019393", "MEDDRA:10019401", "MEDDRA:10055903", "NCIT:C3085", "SNOMEDCT:253053003", "SNOMEDCT:400210000", "medgen:5477", "ICD10:D18.0", "ICD9:228.00", "HP:0001028"], "information_content": 68.3}
{"id": "MONDO:0019287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia syndrome", "equivalent_identifiers": ["MONDO:0019287", "DOID:2121", "OMIM.PS:305100", "orphanet:79373", "UMLS:C0013575", "MESH:D004476", "MEDDRA:10010452", "NCIT:C84683", "SNOMEDCT:254154003", "SNOMEDCT:8654005", "medgen:8544", "icd11.foundation:1156567558", "ICD9:757.31", "HP:0000968"], "information_content": 65.0}
{"id": "MONDO:0010026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SHORT syndrome", "equivalent_identifiers": ["MONDO:0010026", "DOID:0111454", "OMIM:269880", "orphanet:3163", "UMLS:C0878684", "MESH:C537327", "MEDDRA:10090250", "medgen:164212", "icd11.foundation:1264512044"], "information_content": 100.0}
{"id": "MONDO:0008893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C syndrome", "equivalent_identifiers": ["MONDO:0008893", "DOID:0111581", "OMIM:211750", "orphanet:1308", "UMLS:C0796095", "MESH:C537418", "MEDDRA:10083975", "MEDDRA:10083976", "SNOMEDCT:715409005", "medgen:167105", "icd11.foundation:1482041278"], "information_content": 100.0}
{"id": "MONDO:0001953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyuria", "equivalent_identifiers": ["MONDO:0001953", "DOID:1439", "UMLS:C0034359", "UMLS:C0555120", "MESH:D011776", "MEDDRA:10037686", "MEDDRA:10046621", "MEDDRA:10046666", "MEDDRA:10046684", "MEDDRA:10046685", "MEDDRA:10047964", "MEDDRA:10047967", "MEDDRA:10050791", "MEDDRA:10081083", "NCIT:C119028", "SNOMEDCT:271350002", "SNOMEDCT:275741008", "SNOMEDCT:275765006", "SNOMEDCT:4800001", "medgen:11078", "icd11.foundation:2000630356", "ICD10:R82.81", "HP:0012085"], "information_content": 92.8}
{"id": "MONDO:0850289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "human betaherpesvirus 5 infectious disease", "equivalent_identifiers": ["MONDO:0850289", "DOID:0080827", "ICD10:B25", "ICD9:078.5"], "information_content": 100.0}
{"id": "MONDO:0024677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "insulinoma", "equivalent_identifiers": ["MONDO:0024677", "DOID:3892", "UMLS:C0021670", "MESH:D007340", "MEDDRA:10022498", "NCIT:C95598", "SNOMEDCT:25324008", "SNOMEDCT:302822000", "medgen:43907", "HP:0012197"], "information_content": 92.8}
{"id": "MONDO:0002959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radiculopathy", "equivalent_identifiers": ["MONDO:0002959", "DOID:4306", "UMLS:C0700594", "UMLS:C1527351", "MESH:D011843", "MEDDRA:10037779", "MEDDRA:10037780", "MEDDRA:10041587", "MEDDRA:10052442", "SNOMEDCT:72274001", "medgen:147133", "icd11.foundation:1802542189", "ICD10:M54.1"], "information_content": 100.0}
{"id": "MONDO:0006915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyradiculoneuropathy", "equivalent_identifiers": ["MONDO:0006915", "DOID:4308", "EFO:1001116", "UMLS:C0032587", "MESH:D011129", "MEDDRA:10087869", "SNOMEDCT:128078004", "medgen:46012"], "information_content": 88.2}
{"id": "MONDO:0016605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "perinatal lethal hypophosphatasia", "equivalent_identifiers": ["MONDO:0016605", "DOID:0110914", "OMIM:241500", "orphanet:247623", "EFO:0021797", "UMLS:C0268412", "UMLS:C2673477", "UMLS:C5700114", "MESH:C562646", "MESH:C567107", "SNOMEDCT:55236002", "medgen:392928", "HP:0003239"], "information_content": 100.0}
{"id": "MONDO:0000740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Large adenoids", "equivalent_identifiers": ["MONDO:0000740", "DOID:0060311", "UMLS:C0149825", "UMLS:C0455938", "MEDDRA:10001229", "SNOMEDCT:111591002", "SNOMEDCT:276442006", "medgen:628857", "ICD10:J35.2", "ICD9:474.12", "HP:0040261"], "information_content": 100.0}
{"id": "MONDO:0001836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amenorrhea", "equivalent_identifiers": ["MONDO:0001836", "DOID:13938", "EFO:0010269", "UMLS:C0002453", "UMLS:C2219717", "MESH:D000568", "MEDDRA:10000326", "MEDDRA:10001927", "MEDDRA:10001928", "MEDDRA:10001929", "MEDDRA:10027319", "NCIT:C61443", "SNOMEDCT:14302001", "medgen:8016", "ICD10:N91.2", "ICD9:626.0", "HP:0000141"], "information_content": 80.9}
{"id": "MONDO:0005386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral arterial disease", "equivalent_identifiers": ["MONDO:0005386", "DOID:0050830", "EFO:0004265", "UMLS:C1306889", "MESH:D058729", "MEDDRA:10062585", "MEDDRA:10072121", "MEDDRA:10087836", "MEDDRA:10087838", "NCIT:C78533", "NCIT:C84496", "SNOMEDCT:399957001", "medgen:352846"], "information_content": 95.4}
{"id": "MONDO:0031219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Turcot syndrome", "equivalent_identifiers": ["MONDO:0031219", "DOID:0112182", "OMIM:276300", "OMIM.PS:276300", "orphanet:252202", "UMLS:C0265325", "UMLS:C5399763", "MESH:C536928", "MEDDRA:10077888", "MEDDRA:10088126", "NCIT:C3938", "SNOMEDCT:61665008", "medgen:78553"], "information_content": 83.6}
{"id": "MONDO:0001195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spotted fever", "equivalent_identifiers": ["MONDO:0001195", "DOID:11104", "orphanet:102022", "EFO:1002047", "UMLS:C0038041", "UMLS:C5680374", "MESH:D000073605", "MEDDRA:10041743", "SNOMEDCT:186771002", "medgen:1826170", "icd11.foundation:9953620", "ICD10:A77.9", "ICD9:082.0"], "information_content": 81.3}
{"id": "MONDO:8000006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "WHIM syndrome 1", "equivalent_identifiers": ["MONDO:8000006", "DOID:0060591", "OMIM:193670", "orphanet:51636", "UMLS:C5542296", "MESH:C536697", "SNOMEDCT:234571003", "medgen:1778124"], "information_content": 100.0}
{"id": "MONDO:0008771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 1G", "equivalent_identifiers": ["MONDO:0008771", "DOID:0110066", "OMIM:204690", "orphanet:1031", "UMLS:C2931783", "MESH:C538241", "SNOMEDCT:109477002", "medgen:419162"], "information_content": 100.0}
{"id": "MONDO:0009835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subacute sclerosing panencephalitis", "equivalent_identifiers": ["MONDO:0009835", "DOID:8970", "OMIM:260470", "orphanet:2806", "EFO:0007502", "UMLS:C0038522", "MESH:D013344", "MEDDRA:10042297", "MEDDRA:10080799", "NCIT:C85171", "SNOMEDCT:192685000", "SNOMEDCT:359686005", "SNOMEDCT:416154000", "medgen:52527", "icd11.foundation:1098683540", "ICD10:A81.1", "ICD9:046.2"], "information_content": 100.0}
{"id": "MONDO:0006497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral palsy", "equivalent_identifiers": ["MONDO:0006497", "DOID:1969", "EFO:1000632", "UMLS:C0007789", "MESH:D002547", "MEDDRA:10008129", "MEDDRA:10033560", "NCIT:C34460", "SNOMEDCT:128188000", "medgen:854", "icd11.foundation:76906748", "ICD10:G80", "HP:0100021"], "information_content": 80.6}
{"id": "MONDO:0005779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hand, foot and mouth disease", "equivalent_identifiers": ["MONDO:0005779", "DOID:10881", "EFO:0007294", "UMLS:C0018572", "MESH:D006232", "MEDDRA:10019113", "MEDDRA:10019124", "MEDDRA:10085735", "NCIT:C128439", "SNOMEDCT:266108008", "medgen:42330", "ICD10:B08.4", "ICD9:074.3"], "information_content": 100.0}
{"id": "MONDO:0002187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvar disease", "equivalent_identifiers": ["MONDO:0002187", "DOID:2059", "UMLS:C0042994", "MESH:D014845", "MEDDRA:10013287", "MEDDRA:10047727", "MEDDRA:10047728", "MEDDRA:10047754", "MEDDRA:10047755", "NCIT:C27631", "SNOMEDCT:5089007", "medgen:53055"], "information_content": 66.1}
{"id": "MONDO:0002261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratopathy", "equivalent_identifiers": ["MONDO:0002261", "DOID:2283", "UMLS:C0235270", "MEDDRA:10023365", "MEDDRA:10023367", "NCIT:C27012", "medgen:68615"], "information_content": 92.8}
{"id": "MONDO:0000624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign female reproductive system neoplasm", "equivalent_identifiers": ["MONDO:0000624", "DOID:0060086", "UMLS:C0744514", "NCIT:C4934", "medgen:152872"], "information_content": 65.9}
{"id": "MONDO:0002645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebritis", "equivalent_identifiers": ["MONDO:0002645", "DOID:3431", "UMLS:C0742115", "MEDDRA:10054860", "NCIT:C27199", "medgen:149273"], "information_content": 100.0}
{"id": "MONDO:0100280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waldenstrom macroglobulinemia", "equivalent_identifiers": ["MONDO:0100280", "DOID:0060901", "DOID:9080", "OMIM.PS:153600", "orphanet:33226", "EFO:0002616", "EFO:0009441", "UMLS:C0024419", "UMLS:C2936755", "UMLS:C4477091", "MESH:D008258", "MEDDRA:10025389", "MEDDRA:10025390", "MEDDRA:10047714", "MEDDRA:10047801", "MEDDRA:10047802", "MEDDRA:10047803", "MEDDRA:10054693", "MEDDRA:10054695", "MEDDRA:10054696", "MEDDRA:10062831", "MEDDRA:10081211", "MEDDRA:10081215", "NCIT:C115212", "NCIT:C80307", "SNOMEDCT:190817009", "SNOMEDCT:190818004", "SNOMEDCT:35562000", "medgen:6174", "ICD10:C88.0", "ICD9:273.3", "HP:0005508"], "information_content": 89.4}
{"id": "MONDO:0001209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "common wart", "equivalent_identifiers": ["MONDO:0001209", "DOID:11165", "EFO:0009662", "UMLS:C0043037", "UMLS:C3665596", "UMLS:C5848091", "MESH:D014860", "MEDDRA:10010114", "MEDDRA:10010115", "MEDDRA:10047320", "MEDDRA:10047322", "MEDDRA:10047484", "MEDDRA:10047825", "MEDDRA:10047826", "MEDDRA:10047828", "MEDDRA:10047829", "NCIT:C27087", "NCIT:C5028", "SNOMEDCT:1296947008", "SNOMEDCT:1296960002", "SNOMEDCT:30285000", "SNOMEDCT:57019003", "medgen:777120", "HP:0200043"], "information_content": 82.1}
{"id": "MONDO:0005722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "croup", "equivalent_identifiers": ["MONDO:0005722", "DOID:9395", "EFO:0007227", "UMLS:C0010380", "MESH:D003440", "MEDDRA:10011415", "MEDDRA:10089352", "NCIT:C26735", "SNOMEDCT:71186008", "medgen:3668", "ICD10:J05.0", "ICD9:464.4"], "information_content": 100.0}
{"id": "MONDO:0001741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperparathyroidism", "equivalent_identifiers": ["MONDO:0001741", "DOID:13543", "EFO:0008506", "UMLS:C0020502", "MESH:D006961", "MEDDRA:10020705", "MEDDRA:10020706", "NCIT:C48259", "SNOMEDCT:66999008", "medgen:6967", "icd11.foundation:9633776", "ICD10:E21.3", "ICD9:252.0", "HP:0000843"], "information_content": 79.3}
{"id": "MONDO:0001882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bacteriuria", "equivalent_identifiers": ["MONDO:0001882", "DOID:1412", "UMLS:C0004659", "MESH:D001437", "MEDDRA:10004056", "MEDDRA:10004059", "SNOMEDCT:61373006", "medgen:491", "icd11.foundation:626563645", "ICD10:R82.71", "HP:0012461"], "information_content": 100.0}
{"id": "MONDO:0005631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "actinomycosis", "equivalent_identifiers": ["MONDO:0005631", "DOID:8478", "orphanet:457095", "EFO:0007128", "UMLS:C0001261", "MESH:D000196", "MEDDRA:10000620", "MEDDRA:10000624", "MEDDRA:10000627", "NCIT:C34350", "medgen:1733", "icd11.foundation:1697630330", "ICD10:A42", "ICD9:039.9"], "information_content": 90.9}
{"id": "MONDO:0001221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal varices", "equivalent_identifiers": ["MONDO:0001221", "DOID:112", "EFO:0009545", "UMLS:C0014849", "UMLS:C0014867", "UMLS:C0155791", "UMLS:C0155792", "MESH:D004932", "MEDDRA:10015452", "MEDDRA:10030209", "MEDDRA:10030212", "MEDDRA:10046984", "MEDDRA:10056091", "NCIT:C53506", "SNOMEDCT:28670008", "medgen:5027", "ICD10:I85.01", "ICD9:456.0", "ICD9:456.2", "ICD9:456.20", "HP:0002040"], "information_content": 92.8}
{"id": "MONDO:0002282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "West Nile fever", "equivalent_identifiers": ["MONDO:0002282", "DOID:2366", "UMLS:C0043124", "MESH:D014901", "SNOMEDCT:417093003", "medgen:22705", "ICD10:A92.3", "ICD9:066.4"], "information_content": 90.9}
{"id": "MONDO:0004492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mediastinitis", "equivalent_identifiers": ["MONDO:0004492", "DOID:819", "UMLS:C0025064", "MESH:D008480", "MEDDRA:10027082", "NCIT:C26827", "SNOMEDCT:373409004", "SNOMEDCT:47597000", "medgen:9921", "icd11.foundation:1612791605", "ICD10:J98.51", "ICD9:519.2"], "information_content": 92.8}
{"id": "MONDO:0000313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatemia", "equivalent_identifiers": ["MONDO:0000313", "DOID:0050336", "UMLS:C0085682", "UMLS:C0595888", "MESH:D017674", "MEDDRA:10021058", "MEDDRA:10021059", "MEDDRA:10040370", "NCIT:C37977", "SNOMEDCT:4996001", "medgen:39327", "HP:0002148"], "information_content": 80.2}
{"id": "MONDO:0006712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal edema", "equivalent_identifiers": ["MONDO:0006712", "DOID:11030", "EFO:1000879", "UMLS:C0010037", "MESH:D015715", "MEDDRA:10011007", "MEDDRA:10011009", "MEDDRA:10011033", "MEDDRA:10014235", "MEDDRA:10055911", "MEDDRA:10055930", "NCIT:C50508", "SNOMEDCT:27194006", "medgen:3242", "ICD10:H18.20", "ICD9:371.2"], "information_content": 89.4}
{"id": "MONDO:0100345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lactose intolerance", "equivalent_identifiers": ["MONDO:0100345", "DOID:10604", "EFO:1000062", "UMLS:C0022951", "UMLS:C4721810", "MESH:D007787", "MEDDRA:10001545", "MEDDRA:10023681", "NCIT:C3154", "SNOMEDCT:267425008", "SNOMEDCT:700094005", "SNOMEDCT:782415009", "medgen:6001", "icd11.foundation:1026224967", "ICD10:E73", "HP:0004789"], "information_content": 95.4}
{"id": "MONDO:0006881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orbital cellulitis", "equivalent_identifiers": ["MONDO:0006881", "DOID:11234", "EFO:1001076", "UMLS:C0149507", "MESH:D054517", "MEDDRA:10007918", "MEDDRA:10031036", "NCIT:C99000", "SNOMEDCT:194005002", "medgen:57681", "icd11.foundation:1330743591", "ICD10:H05.01", "ICD9:376.01"], "information_content": 100.0}
{"id": "DOID:0080685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic dissection", "equivalent_identifiers": ["DOID:0080685"]}
{"id": "MONDO:0011273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "H syndrome", "equivalent_identifiers": ["MONDO:0011273", "DOID:0111278", "OMIM:602782", "orphanet:168569", "UMLS:C1864445", "UMLS:C2930890", "MESH:C535391", "MESH:C538322", "MEDDRA:10086258", "SNOMEDCT:711159002", "medgen:400532", "icd11.foundation:107155297"], "information_content": 100.0}
{"id": "MONDO:0006771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glossitis", "equivalent_identifiers": ["MONDO:0006771", "DOID:1456", "EFO:1000951", "UMLS:C0017675", "MESH:D005928", "MEDDRA:10018386", "MEDDRA:10021968", "MEDDRA:10043961", "NCIT:C112199", "SNOMEDCT:45534005", "medgen:6618", "icd11.foundation:843084384", "ICD10:K14.0", "ICD9:529.0", "HP:0000206"], "information_content": 90.9}
{"id": "MONDO:0000958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroretinitis", "equivalent_identifiers": ["MONDO:0000958", "DOID:10176", "UMLS:C0154874", "MEDDRA:10060701", "SNOMEDCT:410471004", "medgen:57826", "icd11.foundation:418437487", "ICD10:H30.9"], "information_content": 100.0}
{"id": "MONDO:0002532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "squamous cell neoplasm", "equivalent_identifiers": ["MONDO:0002532", "DOID:3168", "UMLS:C0206720", "MESH:D018307", "NCIT:C3792", "SNOMEDCT:118286007", "medgen:60219"], "information_content": 56.1}
{"id": "MONDO:0020501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crimean-Congo hemorrhagic fever", "equivalent_identifiers": ["MONDO:0020501", "DOID:12287", "orphanet:99827", "UMLS:C0019099", "MESH:D006479", "MEDDRA:10010685", "MEDDRA:10010686", "MEDDRA:10011388", "MEDDRA:10060532", "MEDDRA:10060533", "MEDDRA:10060534", "NCIT:C34682", "SNOMEDCT:402919000", "SNOMEDCT:43489008", "medgen:6800", "icd11.foundation:1562906700", "ICD10:A98.0", "ICD9:065.0"], "information_content": 100.0}
{"id": "MONDO:0019046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy", "equivalent_identifiers": ["MONDO:0019046", "DOID:0050987", "DOID:0060786", "DOID:10579", "OMIM.PS:312080", "orphanet:68356", "UMLS:C0023520", "MEDDRA:10024280", "MEDDRA:10024381", "MEDDRA:10068202", "NCIT:C61253", "SNOMEDCT:192781003", "medgen:6070", "icd11.foundation:468040251", "ICD9:330.0", "HP:0002415"], "information_content": 65.9}
{"id": "MONDO:0005990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tracheitis", "equivalent_identifiers": ["MONDO:0005990", "DOID:9392", "EFO:0007518", "UMLS:C0040584", "UMLS:C0149513", "MESH:D014136", "MEDDRA:10001095", "MEDDRA:10044302", "MEDDRA:10044303", "MEDDRA:10065899", "NCIT:C78643", "SNOMEDCT:26650005", "SNOMEDCT:62994001", "medgen:11870", "ICD10:J04.1", "ICD9:464.1"], "information_content": 92.8}
{"id": "MONDO:0004681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "learning disability", "equivalent_identifiers": ["MONDO:0004681", "DOID:8927", "UMLS:C0023186", "UMLS:C0751265", "UMLS:C1330966", "MESH:D007859", "MEDDRA:10024092", "MEDDRA:10024093", "MEDDRA:10024094", "MEDDRA:10061265", "MEDDRA:10086731", "NCIT:C89334", "SNOMEDCT:1855002", "medgen:199623", "ICD10:F81.9"], "information_content": 80.9}
{"id": "MONDO:0006828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasal cavity and paranasal sinus lethal midline granuloma", "equivalent_identifiers": ["MONDO:0006828", "DOID:9072", "EFO:1001013", "UMLS:C0018197", "MESH:D006103", "MEDDRA:10021233", "MEDDRA:10024255", "NCIT:C8196", "SNOMEDCT:58961005", "medgen:42292", "ICD10:M31.2", "ICD9:446.3"], "information_content": 100.0}
{"id": "MONDO:0008523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blau syndrome", "equivalent_identifiers": ["MONDO:0008523", "DOID:0050678", "OMIM:186580", "orphanet:90340", "UMLS:C1836122", "UMLS:C1861303", "UMLS:C5201146", "MESH:C538157", "MEDDRA:10071755", "NCIT:C116794", "SNOMEDCT:699861000", "SNOMEDCT:726078000", "SNOMEDCT:818950005", "medgen:1684759", "icd11.foundation:382488319"], "information_content": 100.0}
{"id": "MONDO:0003619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "salpingitis", "equivalent_identifiers": ["MONDO:0003619", "DOID:5733", "UMLS:C0036130", "MESH:D012488", "MEDDRA:10039453", "MEDDRA:10039462", "NCIT:C26880", "SNOMEDCT:88157006", "medgen:20646", "ICD10:N70.91", "HP:0034492"], "information_content": 83.1}
{"id": "MONDO:0017198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteopetrosis", "equivalent_identifiers": ["MONDO:0017198", "DOID:13533", "orphanet:2781", "UMLS:C0029454", "MESH:D010022", "MEDDRA:10001556", "MEDDRA:10026821", "MEDDRA:10031280", "NCIT:C26840", "SNOMEDCT:1926006", "medgen:18223", "icd11.foundation:1498426606", "ICD9:756.52", "HP:0011002"], "information_content": 78.8}
{"id": "MONDO:0019142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porphyria", "equivalent_identifiers": ["MONDO:0019142", "DOID:13268", "orphanet:738", "UMLS:C1275125", "UMLS:C5848307", "SNOMEDCT:371628009", "medgen:698423", "ICD10:E80.20", "ICD9:277.1"], "information_content": 80.6}
{"id": "MONDO:0000491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "limb ischemia", "equivalent_identifiers": ["MONDO:0000491", "DOID:0050852", "UMLS:C2945695", "MEDDRA:10077112", "MEDDRA:10077142", "SNOMEDCT:21631000119105", "medgen:754513"], "information_content": 100.0}
{"id": "MONDO:0002342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondromalacia", "equivalent_identifiers": ["MONDO:0002342", "DOID:1222", "DOID:2557", "EFO:0005802", "UMLS:C0007302", "UMLS:C0085700", "MESH:D002357", "MEDDRA:10007707", "MEDDRA:10007708", "MEDDRA:10007709", "MEDDRA:10008729", "MEDDRA:10008730", "MEDDRA:10051395", "MEDDRA:10061762", "SNOMEDCT:50927007", "SNOMEDCT:63198006", "medgen:39328", "icd11.foundation:547071520", "ICD10:M94", "ICD10:M94.2", "ICD10:M94.9", "ICD9:733.92"], "information_content": 92.8}
{"id": "MONDO:0007092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 1B", "equivalent_identifiers": ["MONDO:0007092", "DOID:0110052", "OMIM:104500", "UMLS:C0399368", "MESH:C562879", "SNOMEDCT:234961008", "medgen:97993", "ICD10:K00.5"], "information_content": 100.0}
{"id": "MONDO:0005952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scarlet fever", "equivalent_identifiers": ["MONDO:0005952", "DOID:8596", "orphanet:688995", "EFO:0007477", "UMLS:C0036285", "UMLS:C0343487", "MESH:D012541", "MEDDRA:10039586", "MEDDRA:10039587", "MEDDRA:10039588", "NCIT:C94575", "SNOMEDCT:186357007", "SNOMEDCT:30242009", "medgen:11327", "icd11.foundation:107294155", "ICD10:A38", "ICD9:034", "ICD9:034.1"], "information_content": 100.0}
{"id": "MONDO:0009823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary hyperoxaluria type 1", "equivalent_identifiers": ["MONDO:0009823", "DOID:0111670", "OMIM:259900", "orphanet:93598", "UMLS:C0268164", "MESH:C536414", "NCIT:C123212", "SNOMEDCT:65520001", "medgen:75658", "icd11.foundation:692812009"], "information_content": 100.0}
{"id": "NCBIGene:10867", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPAN9", "equivalent_identifiers": ["NCBIGene:10867", "ENSEMBL:ENSG00000011105", "HGNC:21640", "OMIM:613137", "UMLS:C1540089", "UniProtKB:O75954", "PR:O75954", "ENSEMBL:ENSP00000011898", "ENSEMBL:ENSP00000011898.5", "ENSEMBL:ENSP00000444799", "ENSEMBL:ENSP00000444799.1", "UMLS:C2605083", "MESH:C534243"], "information_content": 95.4}
{"id": "UniProtKB:Q9NXS2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutaminyl-peptide cyclotransferase-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXS2-1", "PR:Q9NXS2-1", "ENSEMBL:ENSP00000012049", "ENSEMBL:ENSP00000012049.4"], "information_content": 100.0}
{"id": "MONDO:0004975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease", "equivalent_identifiers": ["MONDO:0004975", "DOID:10652", "UMLS:C0002395", "MESH:D000544", "MEDDRA:10001896", "MEDDRA:10012271", "MEDDRA:10012292", "NCIT:C2866", "SNOMEDCT:142811000119104", "SNOMEDCT:230267005", "SNOMEDCT:26929004", "medgen:1853", "icd11.foundation:1611724421", "ICD9:331.0", "KEGG.DISEASE:05010", "HP:0002511"], "information_content": 72.7}
{"id": "NCBIGene:5536", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP5C", "equivalent_identifiers": ["NCBIGene:5536", "ENSEMBL:ENSG00000011485", "HGNC:9322", "OMIM:600658", "UMLS:C1418852", "UniProtKB:P53041", "PR:P53041", "ENSEMBL:ENSP00000012443", "ENSEMBL:ENSP00000012443.4", "UMLS:C2001911"], "information_content": 88.2}
{"id": "NCBIGene:55148", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBR7", "equivalent_identifiers": ["NCBIGene:55148", "ENSEMBL:ENSG00000012963", "HGNC:20344", "OMIM:613816", "UMLS:C2681097", "UniProtKB:Q8N806", "PR:Q8N806", "ENSEMBL:ENSP00000013070", "ENSEMBL:ENSP00000013070.6", "ENSEMBL:ENSP00000483908", "ENSEMBL:ENSP00000483908.1", "UMLS:C5197073", "MESH:C000630856"], "information_content": 89.4}
{"id": "MONDO:0009479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Johanson-Blizzard syndrome", "equivalent_identifiers": ["MONDO:0009479", "DOID:14694", "OMIM:243800", "orphanet:2315", "UMLS:C0175692", "UMLS:C1850081", "MESH:C535880", "MESH:C564907", "MEDDRA:10074947", "SNOMEDCT:75979009", "medgen:59798", "icd11.foundation:1427330812"], "information_content": 100.0}
{"id": "NCBIGene:11183", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAP4K5", "equivalent_identifiers": ["NCBIGene:11183", "ENSEMBL:ENSG00000012983", "HGNC:6867", "OMIM:604923", "UMLS:C1417021", "UniProtKB:B3KWC4", "UMLS:C1438750", "MESH:C404144", "UniProtKB:Q9Y4K4", "PR:Q9Y4K4", "ENSEMBL:ENSP00000013125", "ENSEMBL:ENSP00000013125.5", "ENSEMBL:ENSP00000507200", "ENSEMBL:ENSP00000507200.1"], "information_content": 82.1}
{"id": "UniProtKB:O95050-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "indolethylamine N-methyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95050-1", "PR:O95050-1", "ENSEMBL:ENSP00000013222", "ENSEMBL:ENSP00000013222.5"], "information_content": 100.0}
{"id": "UniProtKB:P07992-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA excision repair protein ERCC-1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P07992-3", "PR:P07992-3", "ENSEMBL:ENSP00000013807", "ENSEMBL:ENSP00000013807.4"], "information_content": 100.0}
{"id": "MONDO:0016006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cockayne syndrome", "equivalent_identifiers": ["MONDO:0016006", "DOID:2962", "orphanet:191", "UMLS:C0009207", "MESH:D003057", "MEDDRA:10009835", "MEDDRA:10083972", "NCIT:C9460", "SNOMEDCT:21086008", "medgen:40363", "icd11.foundation:1206275070"], "information_content": 83.6}
{"id": "MONDO:0012590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "XFE progeroid syndrome", "equivalent_identifiers": ["MONDO:0012590", "DOID:0060590", "OMIM:610965", "UMLS:C1970416", "MESH:C567043", "NCIT:C173111", "medgen:410064"], "information_content": 100.0}
{"id": "MONDO:0018053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichothiodystrophy", "equivalent_identifiers": ["MONDO:0018053", "DOID:0111866", "OMIM.PS:601675", "orphanet:33364", "UMLS:C1955934", "MESH:D054463", "MEDDRA:10044628", "NCIT:C4924", "SNOMEDCT:723551003", "medgen:363064", "icd11.foundation:1366758649"], "information_content": 83.6}
{"id": "MONDO:0008310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progeria", "equivalent_identifiers": ["MONDO:0008310", "DOID:3911", "OMIM:176670", "orphanet:740", "UMLS:C0033300", "UMLS:C2750285", "MESH:C567661", "MEDDRA:10036794", "NCIT:C34951", "SNOMEDCT:238870004", "medgen:46123", "ICD10:E34.8"], "information_content": 100.0}
{"id": "MONDO:0010196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Werner syndrome", "equivalent_identifiers": ["MONDO:0010196", "DOID:5688", "OMIM:277700", "orphanet:902", "UMLS:C0043119", "MESH:D014898", "MEDDRA:10049429", "NCIT:C3447", "SNOMEDCT:51626007", "medgen:12147", "icd11.foundation:1864550134"], "information_content": 90.9}
{"id": "MONDO:0008876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bloom syndrome", "equivalent_identifiers": ["MONDO:0008876", "DOID:2717", "OMIM:210900", "orphanet:125", "UMLS:C0005859", "UMLS:C4746755", "MESH:D001816", "MEDDRA:10073032", "MEDDRA:10073038", "NCIT:C2903", "SNOMEDCT:4434006", "medgen:2685", "icd11.foundation:1838213890"], "information_content": 92.8}
{"id": "DOID:4667", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kyphosis", "equivalent_identifiers": ["DOID:4667"]}
{"id": "MONDO:0009623", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nijmegen breakage syndrome", "equivalent_identifiers": ["MONDO:0009623", "DOID:7400", "OMIM:251260", "orphanet:647", "UMLS:C0398791", "UMLS:C1855057", "MESH:C565380", "MESH:D049932", "MEDDRA:10067857", "NCIT:C4692", "SNOMEDCT:234638009", "medgen:140771", "icd11.foundation:1925662580"], "information_content": 90.9}
{"id": "MONDO:0004867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "upper respiratory tract disorder", "equivalent_identifiers": ["MONDO:0004867", "DOID:974", "UMLS:C0264221", "SNOMEDCT:201060008", "medgen:538406"], "information_content": 66.4}
{"id": "MONDO:0009999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive Robinow syndrome", "equivalent_identifiers": ["MONDO:0009999", "DOID:0060764", "OMIM:268310", "orphanet:1507", "UMLS:C1849334", "UMLS:C3151609", "UMLS:C3151610", "UMLS:C5399974", "MESH:C535863", "SNOMEDCT:890237005", "medgen:1770070", "icd11.foundation:793292660"], "information_content": 100.0}
{"id": "MONDO:0019342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome", "equivalent_identifiers": ["MONDO:0019342", "DOID:0050569", "OMIM.PS:210600", "orphanet:808", "UMLS:C0265202", "MEDDRA:10090776", "NCIT:C125488", "SNOMEDCT:57917004", "medgen:78534", "icd11.foundation:952199295", "ICD10:Q87.1"], "information_content": 83.1}
{"id": "MONDO:0002037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pleural disease", "equivalent_identifiers": ["MONDO:0002037", "DOID:1532", "UMLS:C0032226", "MESH:D010995", "MEDDRA:10035595", "MEDDRA:10035596", "MEDDRA:10035597", "NCIT:C26859", "SNOMEDCT:88075009", "medgen:10804"], "information_content": 72.6}
{"id": "DOID:5683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary breast ovarian cancer syndrome", "equivalent_identifiers": ["DOID:5683", "UMLS:C0677776", "MESH:D061325", "MEDDRA:10090911", "NCIT:C8493", "SNOMEDCT:718220008"], "information_content": 86.3}
{"id": "NCBIGene:9052", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPRC5A", "equivalent_identifiers": ["NCBIGene:9052", "ENSEMBL:ENSG00000013588", "HGNC:9836", "OMIM:604138", "UMLS:C1539598", "UniProtKB:Q8NFJ5", "PR:Q8NFJ5", "ENSEMBL:ENSP00000014914", "ENSEMBL:ENSP00000014914.6", "ENSEMBL:ENSP00000518866", "ENSEMBL:ENSP00000518866.1", "UMLS:C0762318", "MESH:C116760"], "information_content": 100.0}
{"id": "NCBIGene:50865", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HEBP1", "equivalent_identifiers": ["NCBIGene:50865", "ENSEMBL:ENSG00000013583", "HGNC:17176", "OMIM:605826", "UMLS:C1424798", "UniProtKB:Q9NRV9", "PR:Q9NRV9", "ENSEMBL:ENSP00000014930", "ENSEMBL:ENSP00000014930.4", "UMLS:C1433119", "MESH:C000631029"], "information_content": 100.0}
{"id": "MONDO:0009168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fowler syndrome", "equivalent_identifiers": ["MONDO:0009168", "DOID:0111666", "OMIM:225790", "orphanet:221126", "UMLS:C1856972", "MESH:C565593", "SNOMEDCT:700242002", "medgen:384026"], "information_content": 100.0}
{"id": "MONDO:0009238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary folate malabsorption", "equivalent_identifiers": ["MONDO:0009238", "DOID:0111678", "OMIM:229050", "orphanet:90045", "UMLS:C0342705", "MESH:C562799", "NCIT:C156424", "SNOMEDCT:62578003", "medgen:83348", "icd11.foundation:773545237"], "information_content": 100.0}
{"id": "MONDO:0001441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pica disease", "equivalent_identifiers": ["MONDO:0001441", "DOID:12128", "UMLS:C0031873", "MESH:D010842", "MEDDRA:10035001", "NCIT:C92566", "SNOMEDCT:14077003", "medgen:45917", "ICD9:307.52", "HP:0011856"], "information_content": 95.4}
{"id": "MONDO:0001676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythropoietic protoporphyria", "equivalent_identifiers": ["MONDO:0001676", "DOID:13270", "OMIM.PS:177000", "orphanet:659681", "UMLS:C0162568", "MESH:D046351", "MEDDRA:10015289", "SNOMEDCT:51022005", "medgen:56455", "icd11.foundation:1642941362", "ICD10:E80.0"], "information_content": 89.4}
{"id": "UniProtKB:Q7KZN9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heme A synthase COX15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7KZN9-1", "PR:Q7KZN9-1", "ENSEMBL:ENSP00000016171", "ENSEMBL:ENSP00000016171.6"], "information_content": 100.0}
{"id": "MONDO:0011308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GRACILE syndrome", "equivalent_identifiers": ["MONDO:0011308", "DOID:0111455", "OMIM:603358", "orphanet:53693", "UMLS:C1864002", "MESH:C537934", "MEDDRA:10081684", "SNOMEDCT:703388005", "medgen:400428"], "information_content": 100.0}
{"id": "MONDO:0005045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy", "equivalent_identifiers": ["MONDO:0005045", "DOID:11984", "orphanet:217569", "EFO:0000538", "UMLS:C0007194", "UMLS:C4551472", "MESH:D002312", "MEDDRA:10020204", "MEDDRA:10020871", "MEDDRA:10020876", "MEDDRA:10065229", "MEDDRA:10083664", "NCIT:C34449", "SNOMEDCT:233873004", "SNOMEDCT:45227007", "medgen:2881", "icd11.foundation:1830681485", "ICD9:425.1", "KEGG.DISEASE:05410", "HP:0001639"], "information_content": 69.3}
{"id": "MONDO:0010794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "NARP syndrome", "equivalent_identifiers": ["MONDO:0010794", "DOID:0111273", "OMIM:551500", "orphanet:644", "UMLS:C1328349", "MESH:C537396", "MEDDRA:10062940", "SNOMEDCT:237984008", "medgen:231285", "icd11.foundation:2089784682"], "information_content": 100.0}
{"id": "MONDO:0957524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COX deficiency, benign infantile mitochondrial myopathy", "equivalent_identifiers": ["MONDO:0957524", "DOID:0081377", "UMLS:C5779825", "SNOMEDCT:1264009006"], "information_content": 100.0}
{"id": "MONDO:0018158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome", "equivalent_identifiers": ["MONDO:0018158", "DOID:0070329", "OMIM.PS:603041", "orphanet:35698", "UMLS:C0342782", "MEDDRA:10059396", "NCIT:C185235", "SNOMEDCT:237995002", "medgen:452449", "icd11.foundation:1159345506"], "information_content": 77.6}
{"id": "MONDO:0010543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Barth syndrome", "equivalent_identifiers": ["MONDO:0010543", "DOID:0050476", "OMIM:302060", "orphanet:111", "UMLS:C0574083", "MESH:D056889", "MEDDRA:10078537", "NCIT:C84585", "SNOMEDCT:297231002", "medgen:107893", "icd11.foundation:452199926", "ICD10:E78.71"], "information_content": 100.0}
{"id": "MONDO:0010797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pearson syndrome", "equivalent_identifiers": ["MONDO:0010797", "DOID:0060067", "OMIM:557000", "orphanet:699", "UMLS:C0342784", "MEDDRA:10062941", "NCIT:C115326", "SNOMEDCT:237985009", "medgen:87459", "icd11.foundation:452521132"], "information_content": 100.0}
{"id": "MONDO:0011835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "equivalent_identifiers": ["MONDO:0011835", "DOID:0111276", "OMIM:607459", "orphanet:402082", "orphanet:70595", "UMLS:C1843851", "UMLS:C4225440", "MESH:C537583", "SNOMEDCT:717266001", "medgen:375302"], "information_content": 95.4}
{"id": "MONDO:0011229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ethylmalonic encephalopathy", "equivalent_identifiers": ["MONDO:0011229", "DOID:0060640", "OMIM:602473", "orphanet:51188", "UMLS:C1865349", "MESH:C535737", "SNOMEDCT:723307008", "medgen:355966", "icd11.foundation:1966714550"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXJ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-spanning 4-domains subfamily A member 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXJ0-1", "PR:Q9NXJ0-1", "ENSEMBL:ENSP00000016913", "ENSEMBL:ENSP00000016913.4"], "information_content": 100.0}
{"id": "MONDO:0005575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colorectal cancer", "equivalent_identifiers": ["MONDO:0005575", "DOID:5672", "DOID:9256", "OMIM:114500", "UMLS:C0346629", "MEDDRA:10010023", "MEDDRA:10025615", "NCIT:C4978", "SNOMEDCT:363510005", "medgen:83428", "ICD10:C18.9", "KEGG.DISEASE:05210"], "information_content": 59.5}
{"id": "UniProtKB:Q99666-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RANBP2-like and GRIP domain-containing protein 5/6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99666-1", "PR:Q99666-1", "ENSEMBL:ENSP00000016946", "ENSEMBL:ENSP00000016946.3", "ENSEMBL:ENSP00000330842", "ENSEMBL:ENSP00000330842.3"], "information_content": 100.0}
{"id": "MONDO:0019005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis", "equivalent_identifiers": ["MONDO:0019005", "DOID:12712", "OMIM.PS:256100", "orphanet:655", "UMLS:C0687120", "MEDDRA:10066248", "NCIT:C123200", "SNOMEDCT:204958008", "medgen:146912", "icd11.foundation:158151813", "HP:0000090"], "information_content": 80.6}
{"id": "UniProtKB:Q9H1B5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "xylosyltransferase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1B5-1", "PR:Q9H1B5-1", "ENSEMBL:ENSP00000017003", "ENSEMBL:ENSP00000017003.2"], "information_content": 100.0}
{"id": "MONDO:0019349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sotos syndrome", "equivalent_identifiers": ["MONDO:0019349", "DOID:0112103", "DOID:14748", "OMIM:117550", "orphanet:821", "UMLS:C0175695", "MESH:D058495", "MEDDRA:10064387", "MEDDRA:10064388", "NCIT:C75019", "SNOMEDCT:75968004", "medgen:61232", "icd11.foundation:1887392960"], "information_content": 92.8}
{"id": "MONDO:0020066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome", "equivalent_identifiers": ["MONDO:0020066", "DOID:13359", "OMIM.PS:130000", "orphanet:98249", "UMLS:C0013720", "UMLS:C1306601", "MESH:D004535", "MEDDRA:10011691", "MEDDRA:10014316", "NCIT:C34568", "SNOMEDCT:398114001", "medgen:41720", "icd11.foundation:1122707206", "ICD10:Q79.6", "ICD9:756.83"], "information_content": 74.7}
{"id": "MONDO:0009925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive inherited pseudoxanthoma elasticum", "equivalent_identifiers": ["MONDO:0009925", "DOID:2738", "OMIM:264800", "orphanet:758", "UMLS:C0376359", "UMLS:C1275116", "UMLS:C3279392", "MESH:D011561", "NCIT:C85036", "SNOMEDCT:402782006", "SNOMEDCT:403812000", "SNOMEDCT:72744008", "medgen:698415", "icd11.foundation:1516160852"], "information_content": 100.0}
{"id": "MONDO:0009657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MPS III C", "equivalent_identifiers": ["MONDO:0009657", "DOID:0111393", "OMIM:252930", "orphanet:79271", "UMLS:C0086649", "NCIT:C84899", "SNOMEDCT:75238000", "medgen:39477", "icd11.foundation:1755913480", "ICD10:E76.22"], "information_content": 100.0}
{"id": "MONDO:0009655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 3A", "equivalent_identifiers": ["MONDO:0009655", "DOID:0111395", "OMIM:252900", "orphanet:79269", "UMLS:C0086647", "NCIT:C84897", "SNOMEDCT:41572006", "medgen:39264", "icd11.foundation:182200345"], "information_content": 100.0}
{"id": "MONDO:0005392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scoliosis", "equivalent_identifiers": ["MONDO:0005392", "DOID:0060249", "EFO:0004273", "UMLS:C0036439", "UMLS:C0037932", "UMLS:C0700208", "UMLS:C5937607", "MESH:D012600", "MESH:D013121", "MEDDRA:10011648", "MEDDRA:10039722", "MEDDRA:10045724", "NCIT:C78603", "SNOMEDCT:111266001", "SNOMEDCT:298382003", "SNOMEDCT:64217002", "medgen:11348", "icd11.foundation:1925604007", "ICD10:M41.9", "HP:0002650"], "information_content": 83.1}
{"id": "MONDO:0008375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal detachment", "equivalent_identifiers": ["MONDO:0008375", "DOID:5327", "OMIM:180050", "EFO:0005773", "UMLS:C0035305", "UMLS:C0154844", "MESH:D012163", "MEDDRA:10012533", "MEDDRA:10012542", "MEDDRA:10038848", "MEDDRA:10038874", "MEDDRA:10038875", "MEDDRA:10040046", "MEDDRA:10046144", "MEDDRA:10064854", "NCIT:C26874", "SNOMEDCT:42059000", "medgen:19759", "ICD10:H33.2", "ICD9:361.9", "HP:0000541"], "information_content": 87.2}
{"id": "MONDO:0009511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Larsen-like syndrome, B3GAT3 type", "equivalent_identifiers": ["MONDO:0009511", "DOID:0080575", "OMIM:245600", "orphanet:284139", "UMLS:C2931649", "UMLS:C3278404", "MESH:C537874", "medgen:480034"], "information_content": 100.0}
{"id": "MONDO:0007875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Larsen syndrome", "equivalent_identifiers": ["MONDO:0007875", "DOID:14764", "OMIM:150250", "orphanet:503", "UMLS:C0175778", "MESH:C580241", "MEDDRA:10073856", "SNOMEDCT:63387002", "medgen:104500", "icd11.foundation:607849551"], "information_content": 100.0}
{"id": "DOID:0070481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schwannomatosis 2", "equivalent_identifiers": ["DOID:0070481", "UMLS:C5670708", "NCIT:C186704"], "information_content": 92.8}
{"id": "NCBIGene:6344", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCTR", "equivalent_identifiers": ["NCBIGene:6344", "ENSEMBL:ENSG00000080293", "HGNC:10608", "OMIM:182098", "UMLS:C1335806", "UniProtKB:P47872", "PR:P47872", "ENSEMBL:ENSP00000019103", "ENSEMBL:ENSP00000019103.6", "UMLS:C4281809", "UniProtKB:Q8IV17"], "information_content": 95.4}
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{"id": "MONDO:0005155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver cirrhosis", "equivalent_identifiers": ["MONDO:0005155", "DOID:5082", "EFO:0001422", "UMLS:C0023890", "MESH:D008103", "MEDDRA:10009211", "MEDDRA:10009213", "MEDDRA:10019641", "MEDDRA:10019642", "MEDDRA:10024667", "NCIT:C2951", "SNOMEDCT:19943007", "medgen:7368", "ICD10:K74.60", "HP:0001394"], "information_content": 79.6}
{"id": "MONDO:0007318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alagille syndrome", "equivalent_identifiers": ["MONDO:0007318", "DOID:9245", "OMIM.PS:118450", "orphanet:52", "UMLS:C0085280", "MESH:D016738", "MEDDRA:10053870", "NCIT:C35139", "SNOMEDCT:31742004", "medgen:39014", "icd11.foundation:1249656206", "ICD10:Q44.7"], "information_content": 90.9}
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{"id": "MONDO:0008970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrodysplasia Blomstrand type", "equivalent_identifiers": ["MONDO:0008970", "DOID:0060387", "OMIM:215045", "orphanet:50945", "UMLS:C1859148", "MESH:C537914", "NCIT:C131420", "medgen:395189"], "information_content": 100.0}
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{"id": "MONDO:0004868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "biliary tract disorder", "equivalent_identifiers": ["MONDO:0004868", "DOID:9741", "EFO:0009534", "UMLS:C0005424", "UMLS:C0549613", "MESH:D001660", "MEDDRA:10004676", "MEDDRA:10004677", "MEDDRA:10045772", "MEDDRA:10061008", "SNOMEDCT:105997008", "medgen:108201", "ICD10:K83.9", "ICD9:576.9", "HP:0001080"], "information_content": 66.7}
{"id": "MONDO:0008244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "piebaldism", "equivalent_identifiers": ["MONDO:0008244", "DOID:3263", "OMIM:172800", "orphanet:2884", "UMLS:C0080024", "MESH:D016116", "MEDDRA:10084262", "NCIT:C85009", "SNOMEDCT:6479008", "SNOMEDCT:718122005", "medgen:36361", "icd11.foundation:2089421143", "ICD10:E70.39", "HP:0007544"], "information_content": 100.0}
{"id": "MONDO:0007077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tietz syndrome", "equivalent_identifiers": ["MONDO:0007077", "DOID:0090002", "OMIM:103500", "orphanet:42665", "UMLS:C0391816", "MESH:C536919", "SNOMEDCT:403805009", "medgen:98213"], "information_content": 100.0}
{"id": "MONDO:0003939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscle tissue disorder", "equivalent_identifiers": ["MONDO:0003939", "DOID:0080000", "DOID:66", "EFO:0002970", "MESH:D009135", "ICD10:G71", "ICD10:M62"], "information_content": 54.9}
{"id": "MONDO:0003329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ureteral obstruction", "equivalent_identifiers": ["MONDO:0003329", "DOID:5199", "UMLS:C0029866", "UMLS:C0041956", "MESH:D014517", "MEDDRA:10029970", "MEDDRA:10030007", "MEDDRA:10046381", "MEDDRA:10046406", "NCIT:C79802", "SNOMEDCT:20018005", "SNOMEDCT:766956009", "medgen:12012", "ICD9:593.4", "HP:0006000"], "information_content": 85.5}
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{"id": "MONDO:0009067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystinuria", "equivalent_identifiers": ["MONDO:0009067", "DOID:9266", "OMIM:220100", "orphanet:214", "UMLS:C0010691", "UMLS:C1857390", "UMLS:C5936710", "MESH:D003555", "MEDDRA:10011778", "NCIT:C84664", "SNOMEDCT:85020001", "medgen:8226", "icd11.foundation:1237620397", "ICD10:E72.01", "HP:0003131"], "information_content": 87.2}
{"id": "MONDO:0008171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrolithiasis", "equivalent_identifiers": ["MONDO:0008171", "DOID:585", "EFO:0004253", "UMLS:C0156257", "UMLS:C0392525", "MESH:D053040", "MEDDRA:10029148", "MEDDRA:10038478", "NCIT:C114667", "SNOMEDCT:266556005", "SNOMEDCT:95570007", "medgen:98227", "ICD10:N20", "ICD9:592", "HP:0000787"], "information_content": 84.8}
{"id": "MONDO:0024647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urolithiasis", "equivalent_identifiers": ["MONDO:0024647", "DOID:0080653", "UMLS:C0451641", "MESH:D052878", "MEDDRA:10046707", "MEDDRA:10046708", "NCIT:C114688", "SNOMEDCT:95566004", "medgen:141536", "icd11.foundation:1746821938", "HP:0034368"], "information_content": 83.1}
{"id": "MONDO:0011669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia-cystinuria syndrome", "equivalent_identifiers": ["MONDO:0011669", "DOID:0060858", "OMIM:606407", "orphanet:163690", "orphanet:238517", "UMLS:C1848030", "MESH:C564710", "MEDDRA:10083099", "SNOMEDCT:721173005", "medgen:341133", "icd11.foundation:1742079513", "icd11.foundation:1852649756", "ICD10:E72.0"], "information_content": 95.4}
{"id": "MONDO:0018106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xanthinuria", "equivalent_identifiers": ["MONDO:0018106", "DOID:0060236", "OMIM.PS:278300", "orphanet:3467", "UMLS:C5779508", "SNOMEDCT:54627004", "medgen:1830243", "ICD10:E79.8"], "information_content": 92.8}
{"id": "MONDO:0001567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrocalcinosis", "equivalent_identifiers": ["MONDO:0001567", "DOID:12679", "UMLS:C0027709", "UMLS:C4280679", "MESH:D009397", "MEDDRA:10006939", "MEDDRA:10029146", "MEDDRA:10083509", "NCIT:C84918", "SNOMEDCT:48638002", "medgen:10222", "icd11.foundation:1359282431", "HP:0000121"], "information_content": 89.4}
{"id": "MONDO:0001106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kidney failure", "equivalent_identifiers": ["MONDO:0001106", "DOID:1074", "EFO:1002048", "UMLS:C0035078", "UMLS:C1565489", "UMLS:C1839604", "MESH:D051437", "MEDDRA:10016149", "MEDDRA:10021523", "MEDDRA:10022467", "MEDDRA:10023418", "MEDDRA:10038435", "MEDDRA:10038448", "MEDDRA:10038449", "MEDDRA:10038450", "MEDDRA:10038469", "MEDDRA:10038474", "MEDDRA:10062237", "NCIT:C114592", "NCIT:C4376", "SNOMEDCT:236423003", "SNOMEDCT:42399005", "SNOMEDCT:723188008", "medgen:11177", "icd11.foundation:761526554", "ICD10:N19", "ICD9:586", "HP:0000083"], "information_content": 75.3}
{"id": "MONDO:0009324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hartnup disease", "equivalent_identifiers": ["MONDO:0009324", "DOID:1060", "OMIM:234500", "orphanet:2116", "UMLS:C0018609", "MESH:D006250", "MEDDRA:10019165", "NCIT:C84748", "SNOMEDCT:80902009", "medgen:6723", "ICD10:E72.02"], "information_content": 100.0}
{"id": "MONDO:0013869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenine phosphoribosyltransferase deficiency", "equivalent_identifiers": ["MONDO:0013869", "DOID:0060350", "OMIM:614723", "orphanet:976", "UMLS:C0268120", "UMLS:C3665382", "MESH:C538228", "MEDDRA:10072609", "NCIT:C121564", "SNOMEDCT:124274002", "medgen:82772", "icd11.foundation:753682703"], "information_content": 100.0}
{"id": "MONDO:0015612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dent disease", "equivalent_identifiers": ["MONDO:0015612", "DOID:0050699", "OMIM.PS:300009", "orphanet:1652", "UMLS:C0878681", "MESH:D057973", "MEDDRA:10069199", "NCIT:C123260", "SNOMEDCT:444645005", "medgen:168056", "icd11.foundation:1762998355"], "information_content": 92.8}
{"id": "MONDO:0001909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal tubular acidosis", "equivalent_identifiers": ["MONDO:0001909", "DOID:14219", "UMLS:C0001126", "UMLS:C1578594", "MESH:D000141", "MEDDRA:10000494", "MEDDRA:10038353", "MEDDRA:10038535", "NCIT:C28129", "SNOMEDCT:1776003", "medgen:90", "icd11.foundation:1272869150", "ICD10:N25.89", "HP:0001947"], "information_content": 86.3}
{"id": "MONDO:0007009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ureterolithiasis", "equivalent_identifiers": ["MONDO:0007009", "DOID:14146", "EFO:1001228", "UMLS:C0041952", "MESH:D053039", "MEDDRA:10077989", "NCIT:C114696", "SNOMEDCT:31054009", "medgen:21775", "ICD10:N20.1", "ICD9:592.1"], "information_content": 100.0}
{"id": "MONDO:0001083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi renotubular syndrome", "equivalent_identifiers": ["MONDO:0001083", "DOID:1062", "UMLS:C0015624", "MESH:D005198", "MEDDRA:10016219", "MEDDRA:10037081", "NCIT:C3034", "SNOMEDCT:236466005", "SNOMEDCT:40488004", "medgen:4653"], "information_content": 83.6}
{"id": "UniProtKB:Q8TDY2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RB1-inducible coiled-coil protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDY2-1", "PR:Q8TDY2-1", "ENSEMBL:ENSP00000025008", "ENSEMBL:ENSP00000025008.5"], "information_content": 100.0}
{"id": "MONDO:0009452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vici syndrome", "equivalent_identifiers": ["MONDO:0009452", "DOID:0060356", "OMIM:242840", "orphanet:1493", "UMLS:C1855772", "MESH:C535566", "NCIT:C138174", "SNOMEDCT:719824001", "medgen:340962"], "information_content": 100.0}
{"id": "MONDO:0003298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvar leiomyoma", "equivalent_identifiers": ["MONDO:0003298", "DOID:5142", "UMLS:C1520087", "NCIT:C40326", "medgen:274417"], "information_content": 100.0}
{"id": "MONDO:0003424", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oncocytic adenoma", "equivalent_identifiers": ["MONDO:0003424", "DOID:5389", "EFO:1001079", "UMLS:C0949541", "UMLS:C1510502", "MESH:D018249", "MEDDRA:10048757", "MEDDRA:10048760", "MEDDRA:10078974", "MEDDRA:10078976", "NCIT:C3759", "NCIT:C46068", "SNOMEDCT:363639001", "SNOMEDCT:89439007", "medgen:307150"], "information_content": 84.8}
{"id": "MONDO:0020604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked dominant disease", "equivalent_identifiers": ["MONDO:0020604", "DOID:0080009", "UMLS:C5566661", "SNOMEDCT:1162984000", "medgen:1798084"], "information_content": 95.4}
{"id": "NCBIGene:11215", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AKAP11", "equivalent_identifiers": ["NCBIGene:11215", "ENSEMBL:ENSG00000023516", "HGNC:369", "OMIM:604696", "UMLS:C1412313", "UniProtKB:Q9UKA4", "PR:Q9UKA4", "ENSEMBL:ENSP00000025301", "ENSEMBL:ENSP00000025301.2", "UMLS:C1438168", "MESH:C099270"], "information_content": 87.2}
{"id": "UniProtKB:Q9BRB3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRB3-1", "PR:Q9BRB3-1", "ENSEMBL:ENSP00000026218", "ENSEMBL:ENSP00000026218.5"], "information_content": 100.0}
{"id": "MONDO:0011119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iridogoniodysgenesis", "equivalent_identifiers": ["MONDO:0011119", "DOID:0050786", "orphanet:98634", "UMLS:C4013049", "medgen:861486", "icd11.foundation:2030725523"], "information_content": 83.6}
{"id": "MONDO:0010221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CHIME syndrome", "equivalent_identifiers": ["MONDO:0010221", "DOID:0112152", "OMIM:280000", "orphanet:3474", "UMLS:C1848392", "MESH:C536729", "SNOMEDCT:720639008", "medgen:341214"], "information_content": 100.0}
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{"id": "NCBIGene:1015", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDH17", "equivalent_identifiers": ["NCBIGene:1015", "ENSEMBL:ENSG00000079112", "HGNC:1756", "OMIM:603017", "UMLS:C1413274", "UniProtKB:Q12864", "PR:Q12864", "ENSEMBL:ENSP00000027335", "ENSEMBL:ENSP00000027335.3", "ENSEMBL:ENSP00000401468", "ENSEMBL:ENSP00000401468.2", "UMLS:C0246443", "MESH:C490584"], "information_content": 84.2}
{"id": "DOID:0050430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple endocrine neoplasia type 2A", "equivalent_identifiers": ["DOID:0050430", "DOID:0050547", "OMIM:155240", "OMIM:171400", "EFO:1001957", "UMLS:C0025268", "UMLS:C1833921", "MESH:C536911", "MESH:D018813", "MEDDRA:10056427", "MEDDRA:10073148", "MEDDRA:10073153", "MEDDRA:10073154", "NCIT:C3226", "NCIT:C46099", "SNOMEDCT:721188000", "ICD10:E31.22", "ICD9:258.02"], "information_content": 88.2}
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{"id": "MONDO:0017813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "van Maldergem syndrome", "equivalent_identifiers": ["MONDO:0017813", "DOID:0060238", "OMIM.PS:601390", "orphanet:314679", "UMLS:C1832390", "MESH:C536530", "SNOMEDCT:763353000", "medgen:318616"], "information_content": 92.8}
{"id": "MONDO:0007395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial-deafness-hand syndrome", "equivalent_identifiers": ["MONDO:0007395", "DOID:0111336", "OMIM:122880", "orphanet:1529", "UMLS:C1852510", "MESH:C536453", "SNOMEDCT:702362004", "medgen:377694", "icd11.foundation:1355682887"], "information_content": 100.0}
{"id": "MONDO:0008686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Woolly hair", "equivalent_identifiers": ["MONDO:0008686", "DOID:0111572", "orphanet:170", "UMLS:C0343073", "UMLS:C0345427", "UMLS:C4072835", "UMLS:C4072836", "UMLS:C4073292", "MESH:C536745", "MEDDRA:10048017", "SNOMEDCT:254231002", "SNOMEDCT:52564001", "medgen:87469", "HP:0002224"], "information_content": 84.2}
{"id": "MONDO:0007404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cri-du-chat syndrome", "equivalent_identifiers": ["MONDO:0007404", "DOID:12580", "OMIM:123450", "orphanet:281", "UMLS:C0010314", "MESH:D003410", "MEDDRA:10011385", "NCIT:C34518", "SNOMEDCT:70173007", "medgen:41345", "icd11.foundation:620584190", "ICD10:Q93.4", "ICD9:758.31"], "information_content": 100.0}
{"id": "MONDO:0020341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periventricular nodular heterotopia", "equivalent_identifiers": ["MONDO:0020341", "DOID:0050454", "OMIM.PS:300049", "orphanet:98892", "UMLS:C1868720", "MESH:D054091", "MEDDRA:10066854", "NCIT:C202072", "SNOMEDCT:816068000", "medgen:358387", "icd11.foundation:20200096", "HP:0032388"], "information_content": 85.5}
{"id": "MONDO:0011107", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital hypotrichosis with juvenile macular dystrophy", "equivalent_identifiers": ["MONDO:0011107", "DOID:0110711", "OMIM:601553", "orphanet:1573", "UMLS:C1832162", "MESH:C537698", "medgen:316921"], "information_content": 100.0}
{"id": "MONDO:0008009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monilethrix", "equivalent_identifiers": ["MONDO:0008009", "DOID:0050472", "OMIM.PS:158000", "orphanet:573", "UMLS:C0546966", "MESH:D056734", "NCIT:C84894", "SNOMEDCT:69488000", "medgen:108185", "icd11.foundation:415074833", "ICD10:Q84.1", "HP:0032470"], "information_content": 90.9}
{"id": "MONDO:0009151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft lip/palate-ectodermal dysplasia syndrome", "equivalent_identifiers": ["MONDO:0009151", "DOID:0060773", "OMIM:225060", "orphanet:3253", "UMLS:C1857043", "UMLS:C2931488", "MESH:C536726", "MESH:C565603", "NCIT:C122656", "SNOMEDCT:716248001", "medgen:444067"], "information_content": 100.0}
{"id": "MONDO:0007339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharocheilodontic syndrome", "equivalent_identifiers": ["MONDO:0007339", "DOID:0080344", "OMIM.PS:119580", "orphanet:1997", "UMLS:C1861536", "MESH:C536188", "SNOMEDCT:717911008", "medgen:349302", "icd11.foundation:755252042"], "information_content": 90.9}
{"id": "MONDO:0005561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic disorder", "equivalent_identifiers": ["MONDO:0005561", "DOID:520", "EFO:0005775", "UMLS:C0003493", "MESH:D001018", "MEDDRA:10058648", "NCIT:C101253", "SNOMEDCT:47040006", "medgen:1618"], "information_content": 74.5}
{"id": "MONDO:0002546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schwannoma", "equivalent_identifiers": ["MONDO:0002546", "DOID:3192", "DOID:955", "orphanet:252164", "EFO:0000693", "UMLS:C0027809", "MESH:D009442", "MEDDRA:10029234", "MEDDRA:10029237", "MEDDRA:10039667", "NCIT:C3269", "SNOMEDCT:189948006", "SNOMEDCT:404022001", "SNOMEDCT:985004", "medgen:45053", "HP:0100008"], "information_content": 74.2}
{"id": "MONDO:0020491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subcortical band heterotopia", "equivalent_identifiers": ["MONDO:0020491", "DOID:0111169", "orphanet:99796", "UMLS:C1848201", "MEDDRA:10073490", "NCIT:C116933", "medgen:336288", "icd11.foundation:525786944", "HP:0032409"], "information_content": 90.9}
{"id": "NCBIGene:11285", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B4GALT7", "equivalent_identifiers": ["NCBIGene:11285", "ENSEMBL:ENSG00000027847", "HGNC:930", "OMIM:604327", "UMLS:C1412725", "UniProtKB:B3KMT1", "UMLS:C2713403", "UniProtKB:Q9UBV7", "PR:Q9UBV7", "ENSEMBL:ENSP00000029410", "ENSEMBL:ENSP00000029410.5"], "information_content": 89.4}
{"id": "MONDO:0016175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutis laxa", "equivalent_identifiers": ["MONDO:0016175", "DOID:3144", "orphanet:209", "UMLS:C0010495", "UMLS:C0268366", "UMLS:C2930812", "UMLS:C4280606", "MESH:C531660", "MESH:D003483", "MEDDRA:10011692", "MEDDRA:10012500", "MEDDRA:10057064", "NCIT:C84663", "SNOMEDCT:58588007", "medgen:8206", "icd11.foundation:1227401566", "HP:0000973"], "information_content": 78.3}
{"id": "DOID:0070017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive dyskeratosis congenita 2", "equivalent_identifiers": ["DOID:0070017"]}
{"id": "MONDO:0011533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "temtamy preaxial brachydactyly syndrome", "equivalent_identifiers": ["MONDO:0011533", "DOID:0050814", "OMIM:605282", "orphanet:363417", "UMLS:C1854466", "MESH:C536958", "SNOMEDCT:777998000", "medgen:381425"], "information_content": 100.0}
{"id": "MONDO:0004892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ametropia", "equivalent_identifiers": ["MONDO:0004892", "DOID:9835", "UMLS:C0034951", "UMLS:C1527310", "MESH:D012030", "MEDDRA:10001936", "MEDDRA:10013262", "MEDDRA:10015136", "MEDDRA:10038264", "MEDDRA:10038265", "MEDDRA:10038268", "NCIT:C34371", "NCIT:C87145", "SNOMEDCT:39021009", "medgen:20508", "ICD10:H52.7"], "information_content": 75.3}
{"id": "MONDO:0001798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypermobility syndrome", "equivalent_identifiers": ["MONDO:0001798", "DOID:13781", "UMLS:C0152093", "MEDDRA:10020677", "MEDDRA:10087557", "SNOMEDCT:85551004", "medgen:508885", "ICD10:M35.7", "ICD9:728.5"], "information_content": 100.0}
{"id": "MONDO:0018954", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loeys-Dietz syndrome", "equivalent_identifiers": ["MONDO:0018954", "DOID:0050466", "OMIM.PS:609192", "orphanet:60030", "UMLS:C2697932", "MESH:D055947", "MEDDRA:10081284", "NCIT:C75006", "SNOMEDCT:446263001", "medgen:395827"], "information_content": 87.2}
{"id": "MONDO:0007342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "clubfoot", "equivalent_identifiers": ["MONDO:0007342", "DOID:11836", "OMIM:119800", "UMLS:C0009081", "UMLS:C0858279", "MESH:D003025", "MEDDRA:10009687", "MEDDRA:10009694", "MEDDRA:10009695", "MEDDRA:10010419", "MEDDRA:10016523", "MEDDRA:10016869", "MEDDRA:10043105", "MEDDRA:10043106", "MEDDRA:10048426", "NCIT:C84641", "SNOMEDCT:1156475005", "SNOMEDCT:397932003", "medgen:3130", "ICD10:Q66.89", "ICD9:754.51", "HP:0001762"], "information_content": 90.9}
{"id": "MONDO:0004910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitral valve prolapse", "equivalent_identifiers": ["MONDO:0004910", "DOID:988", "UMLS:C0026267", "MESH:D008945", "MEDDRA:10016786", "MEDDRA:10027717", "MEDDRA:10027730", "MEDDRA:10036853", "NCIT:C50655", "SNOMEDCT:409712001", "SNOMEDCT:8074002", "medgen:7671", "icd11.foundation:1085590500", "HP:0001634"], "information_content": 89.4}
{"id": "MONDO:0015286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0015286", "DOID:5212", "orphanet:137", "UMLS:C0282577", "MESH:D018981", "MEDDRA:10075892", "NCIT:C84615", "SNOMEDCT:238049009", "medgen:76469"], "information_content": 65.8}
{"id": "MONDO:0011479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Irritable heart", "equivalent_identifiers": ["MONDO:0011479", "DOID:0111154", "OMIM:604715", "orphanet:443236", "EFO:1000645", "UMLS:C1299624", "UMLS:C2930833", "MESH:C531763", "MESH:D054972", "MEDDRA:10063080", "NCIT:C85020", "SNOMEDCT:371073003", "medgen:226970", "icd11.foundation:1533647472", "ICD10:I95.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9NYF5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM13B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYF5-1", "PR:Q9NYF5-1", "ENSEMBL:ENSP00000033079", "ENSEMBL:ENSP00000033079.3"], "information_content": 100.0}
{"id": "MONDO:0000923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interstitial emphysema", "equivalent_identifiers": ["MONDO:0000923", "DOID:10030", "UMLS:C0038536", "UMLS:C1370824", "MESH:D013352", "MEDDRA:10022606", "MEDDRA:10042344", "NCIT:C127819", "NCIT:C34571", "SNOMEDCT:11211003", "SNOMEDCT:3830001", "SNOMEDCT:77690003", "medgen:234586", "icd11.foundation:2008095771", "ICD10:J98.2", "ICD9:518.1", "HP:6001021"], "information_content": 95.4}
{"id": "UniProtKB:Q9P2E5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chondroitin sulfate glucuronyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2E5-1", "PR:Q9P2E5-1", "ENSEMBL:ENSP00000035307", "ENSEMBL:ENSP00000035307.2"], "information_content": 100.0}
{"id": "MONDO:0000463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ochoa syndrome", "equivalent_identifiers": ["MONDO:0000463", "DOID:0050816", "OMIM.PS:236730", "orphanet:2704", "UMLS:C0403555", "MESH:C536480", "MEDDRA:10089227", "MEDDRA:10089228", "SNOMEDCT:236533008", "medgen:98015", "icd11.foundation:443886910"], "information_content": 92.8}
{"id": "NCBIGene:11345", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABARAPL2", "equivalent_identifiers": ["NCBIGene:11345", "ENSEMBL:ENSG00000034713", "HGNC:13291", "OMIM:607452", "UMLS:C1421924", "UniProtKB:P60520", "PR:P60520", "ENSEMBL:ENSP00000037243", "ENSEMBL:ENSP00000037243.2", "UMLS:C1452406", "MESH:C498698"], "information_content": 95.4}
{"id": "MONDO:0000507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia", "equivalent_identifiers": ["MONDO:0000507", "DOID:0050881", "OMIM.PS:167320", "orphanet:52430", "UMLS:C1833662", "SNOMEDCT:703544004", "medgen:322251", "icd11.foundation:1947548457"], "information_content": 89.4}
{"id": "NCBIGene:4653", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYOC", "equivalent_identifiers": ["NCBIGene:4653", "ENSEMBL:ENSG00000034971", "HGNC:7610", "OMIM:601652", "UMLS:C1417573", "UniProtKB:A0A0S2Z421", "UMLS:C1570203", "UniProtKB:Q99972", "PR:Q99972", "ENSEMBL:ENSP00000037502", "ENSEMBL:ENSP00000037502.5"], "information_content": 86.3}
{"id": "MONDO:0006875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ocular hypertension", "equivalent_identifiers": ["MONDO:0006875", "DOID:9282", "EFO:1001069", "UMLS:C0028840", "MESH:D009798", "MEDDRA:10020784", "MEDDRA:10030043", "NCIT:C3285", "SNOMEDCT:4210003", "medgen:10423", "icd11.foundation:535283437", "ICD10:H40.05", "ICD9:365.04"], "information_content": 100.0}
{"id": "MONDO:0019503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior segment dysgenesis", "equivalent_identifiers": ["MONDO:0019503", "DOID:0060648", "OMIM.PS:107250", "orphanet:88632", "UMLS:C0266525", "UMLS:C1862839", "MESH:C537775", "SNOMEDCT:65075004", "medgen:350766", "icd11.foundation:1182282997", "icd11.foundation:943599144", "ICD10:Q13.8", "HP:0007700"], "information_content": 77.1}
{"id": "MONDO:0010896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pigment dispersion syndrome", "equivalent_identifiers": ["MONDO:0010896", "DOID:0060680", "OMIM:600510", "UMLS:C1271398", "MESH:C563184", "MEDDRA:10052134", "NCIT:C187288", "SNOMEDCT:392133001", "medgen:220866"], "information_content": 100.0}
{"id": "MONDO:0019187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rieger syndrome", "equivalent_identifiers": ["MONDO:0019187", "DOID:14686", "OMIM.PS:180500", "orphanet:782", "UMLS:C0265341", "UMLS:C3495488", "MESH:C535679", "MEDDRA:10059197", "MEDDRA:10059198", "MEDDRA:10059255", "NCIT:C131001", "SNOMEDCT:417604002", "SNOMEDCT:47507006", "medgen:501192", "ICD10:Q13.81", "HP:0000558"], "information_content": 90.9}
{"id": "MONDO:0004580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal degeneration", "equivalent_identifiers": ["MONDO:0004580", "DOID:8466", "UMLS:C0035304", "MESH:D012162", "MEDDRA:10012159", "MEDDRA:10038845", "NCIT:C34979", "SNOMEDCT:95695004", "medgen:48432", "HP:0000546"], "information_content": 61.0}
{"id": "MONDO:0009576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalocornea", "equivalent_identifiers": ["MONDO:0009576", "DOID:0060305", "OMIM:249300", "UMLS:C0344530", "UMLS:C1167712", "UMLS:C5574682", "UMLS:C5975700", "MESH:C562829", "MEDDRA:10059253", "MEDDRA:10059297", "SNOMEDCT:204118005", "SNOMEDCT:268158009", "medgen:1807965", "icd11.foundation:58849242", "HP:0000485"], "information_content": 90.9}
{"id": "MONDO:0019172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia", "equivalent_identifiers": ["MONDO:0019172", "DOID:12271", "UMLS:C0003076", "MESH:D015783", "MEDDRA:10002532", "NCIT:C84563", "SNOMEDCT:69278003", "medgen:1941", "icd11.foundation:970699895", "ICD10:Q13.1", "ICD9:743.45", "HP:0000526"], "information_content": 87.2}
{"id": "MONDO:0005266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetic retinopathy", "equivalent_identifiers": ["MONDO:0005266", "DOID:8947", "EFO:0003770", "UMLS:C0011884", "MESH:D003930", "MEDDRA:10012689", "MEDDRA:10038925", "NCIT:C34538", "SNOMEDCT:4855003", "medgen:3786", "icd11.foundation:1006882070", "ICD9:362.0"], "information_content": 83.1}
{"id": "MONDO:0011414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peters anomaly", "equivalent_identifiers": ["MONDO:0011414", "DOID:0060673", "DOID:0080610", "OMIM:604229", "orphanet:708", "UMLS:C0344559", "UMLS:C4310809", "MESH:C537884", "MEDDRA:10059202", "SNOMEDCT:204153003", "medgen:91031", "icd11.foundation:1902926622", "HP:0000659"], "information_content": 92.8}
{"id": "MONDO:0018102", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy", "equivalent_identifiers": ["MONDO:0018102", "DOID:2566", "orphanet:34533", "UMLS:C0010035", "UMLS:C0010036", "MESH:D003317", "MEDDRA:10011005", "MEDDRA:10019868", "NCIT:C34512", "NCIT:C34513", "SNOMEDCT:5587004", "SNOMEDCT:77797009", "medgen:3619", "icd11.foundation:1291475891", "ICD9:371.5", "HP:0001131"], "information_content": 73.2}
{"id": "MONDO:0006951", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal vein occlusion", "equivalent_identifiers": ["MONDO:0006951", "DOID:1727", "EFO:1001157", "UMLS:C0035328", "UMLS:C1527411", "MESH:D012170", "MEDDRA:10030009", "MEDDRA:10038907", "MEDDRA:10038908", "MEDDRA:10043638", "NCIT:C34981", "SNOMEDCT:1237532002", "SNOMEDCT:46085004", "medgen:19763", "HP:0012636"], "information_content": 89.4}
{"id": "MONDO:0018096", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weill-Marchesani syndrome", "equivalent_identifiers": ["MONDO:0018096", "DOID:0050475", "OMIM.PS:277600", "orphanet:3449", "UMLS:C0265313", "MESH:D056846", "MEDDRA:10064963", "NCIT:C85226", "SNOMEDCT:2884008", "medgen:82705"], "information_content": 89.4}
{"id": "MONDO:0021129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia", "equivalent_identifiers": ["MONDO:0021129", "DOID:10629", "EFO:0005569", "UMLS:C0026010", "UMLS:C4280625", "UMLS:C4280808", "MESH:D008850", "MEDDRA:10010544", "MEDDRA:10027547", "MEDDRA:10027548", "MEDDRA:10027550", "MEDDRA:10040702", "NCIT:C98989", "SNOMEDCT:204108000", "SNOMEDCT:61142002", "medgen:10033", "ICD9:743.1", "HP:0000568"], "information_content": 72.1}
{"id": "MONDO:0001538", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal ischemia", "equivalent_identifiers": ["MONDO:0001538", "DOID:12510", "UMLS:C0162291", "MEDDRA:10023036", "MEDDRA:10038871", "MEDDRA:10038872", "MEDDRA:10055754", "SNOMEDCT:26468004", "medgen:102372", "ICD10:H35.82", "ICD9:362.84"], "information_content": 95.4}
{"id": "MONDO:0004891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperopia", "equivalent_identifiers": ["MONDO:0004891", "DOID:9834", "UMLS:C0020490", "MESH:D006956", "MEDDRA:10020675", "MEDDRA:10020690", "MEDDRA:10024805", "MEDDRA:10057906", "SNOMEDCT:38101003", "medgen:43780", "ICD10:H52.0", "ICD9:367.0", "HP:0000540"], "information_content": 89.4}
{"id": "MONDO:0001793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Epiphora", "equivalent_identifiers": ["MONDO:0001793", "DOID:13757", "UMLS:C0152227", "MEDDRA:10015068", "MEDDRA:10015071", "MEDDRA:10015591", "MEDDRA:10023644", "NCIT:C50552", "SNOMEDCT:193982009", "SNOMEDCT:418035005", "medgen:57518", "ICD10:H04.2", "ICD9:375.2", "HP:0009926"], "information_content": 88.2}
{"id": "MONDO:0015486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoconus", "equivalent_identifiers": ["MONDO:0015486", "DOID:10126", "OMIM.PS:148300", "UMLS:C0022578", "MESH:D007640", "MEDDRA:10023353", "MEDDRA:10023356", "NCIT:C26806", "SNOMEDCT:65636009", "medgen:44015", "icd11.foundation:945228622", "ICD10:H18.6", "ICD9:371.6", "HP:0000563"], "information_content": 83.6}
{"id": "MONDO:0004390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ocular hypotension", "equivalent_identifiers": ["MONDO:0004390", "DOID:790", "UMLS:C0028841", "MESH:D015814", "MEDDRA:10021124", "MEDDRA:10022804", "MEDDRA:10022807", "MEDDRA:10056914", "NCIT:C172147", "SNOMEDCT:19721008", "SNOMEDCT:23670006", "medgen:10424", "ICD10:H44.4", "ICD9:360.3", "HP:0032547"], "information_content": 92.8}
{"id": "NCBIGene:5009", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTC", "equivalent_identifiers": ["NCBIGene:5009", "ENSEMBL:ENSG00000036473", "HGNC:8512", "OMIM:300461", "UMLS:C1418193", "UniProtKB:P00480", "PR:P00480", "ENSEMBL:ENSP00000039007", "ENSEMBL:ENSP00000039007.4", "ENSEMBL:ENSP00000519059", "ENSEMBL:ENSP00000519059.1", "UMLS:C3887649", "UMLS:C4742802", "MESH:C000628669"], "information_content": 92.8}
{"id": "MONDO:0008815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "argininosuccinic aciduria", "equivalent_identifiers": ["MONDO:0008815", "DOID:14755", "OMIM:207900", "orphanet:23", "UMLS:C0268547", "MESH:D056807", "MEDDRA:10058299", "MEDDRA:10083968", "NCIT:C84569", "SNOMEDCT:41013004", "medgen:78687", "icd11.foundation:439383288", "HP:0025630"], "information_content": 100.0}
{"id": "MONDO:0009393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HHH syndrome", "equivalent_identifiers": ["MONDO:0009393", "DOID:0050720", "OMIM:238970", "orphanet:415", "UMLS:C0268540", "MESH:C538380", "MEDDRA:10084220", "MEDDRA:10084222", "MEDDRA:10084223", "MEDDRA:10084224", "MEDDRA:10084225", "NCIT:C129029", "SNOMEDCT:30287008", "medgen:82815"], "information_content": 100.0}
{"id": "MONDO:0009797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orotic aciduria", "equivalent_identifiers": ["MONDO:0009797", "DOID:0050833", "OMIM:258900", "orphanet:30", "UMLS:C0220987", "UMLS:C0268128", "UMLS:C0268130", "MESH:C537136", "MEDDRA:10052621", "MEDDRA:10052631", "NCIT:C98944", "SNOMEDCT:124277009", "SNOMEDCT:16242007", "SNOMEDCT:47641009", "SNOMEDCT:69525003", "medgen:472940", "icd11.foundation:449856959", "HP:0003218"], "information_content": 95.4}
{"id": "MONDO:0011628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "propionic acidemia", "equivalent_identifiers": ["MONDO:0011628", "DOID:14701", "OMIM:606054", "orphanet:35", "UMLS:C0268579", "UMLS:C2717876", "MESH:D056693", "MEDDRA:10080607", "MEDDRA:10080611", "MEDDRA:10080615", "MEDDRA:10080616", "NCIT:C85030", "SNOMEDCT:69080001", "medgen:75694", "ICD10:E71.121", "HP:0003571"], "information_content": 100.0}
{"id": "MONDO:0009563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maple syrup urine disease", "equivalent_identifiers": ["MONDO:0009563", "DOID:9269", "OMIM.PS:248600", "orphanet:511", "UMLS:C0024776", "MESH:D008375", "MEDDRA:10026817", "MEDDRA:10026818", "NCIT:C34806", "SNOMEDCT:27718001", "medgen:6217", "icd11.foundation:1623706568", "ICD10:E71.0"], "information_content": 84.8}
{"id": "MONDO:0009475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isovaleric acidemia", "equivalent_identifiers": ["MONDO:0009475", "DOID:14753", "OMIM:243500", "orphanet:33", "UMLS:C0268575", "MESH:C538167", "MEDDRA:10083852", "MEDDRA:10083874", "NCIT:C98964", "SNOMEDCT:87827003", "medgen:82822", "ICD10:E71.110"], "information_content": 100.0}
{"id": "MONDO:0010604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemophilia B", "equivalent_identifiers": ["MONDO:0010604", "DOID:12259", "OMIM:306900", "orphanet:98879", "UMLS:C0008533", "MESH:D002836", "MEDDRA:10008793", "MEDDRA:10010467", "MEDDRA:10016077", "MEDDRA:10018939", "MEDDRA:10060614", "MEDDRA:10082786", "MEDDRA:10082788", "NCIT:C26721", "SNOMEDCT:41788008", "SNOMEDCT:767712006", "medgen:945", "icd11.foundation:1901375668", "ICD10:D67", "ICD9:286.1"], "information_content": 89.4}
{"id": "MONDO:0008294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute intermittent porphyria", "equivalent_identifiers": ["MONDO:0008294", "DOID:3890", "OMIM:176000", "orphanet:79276", "UMLS:C0162565", "UMLS:C1867969", "UMLS:C2936779", "MESH:C566769", "MESH:D017118", "MEDDRA:10000818", "MEDDRA:10036182", "NCIT:C84536", "SNOMEDCT:234422006", "SNOMEDCT:276263005", "medgen:56452", "icd11.foundation:1565229118"], "information_content": 100.0}
{"id": "MONDO:0011612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycine encephalopathy", "equivalent_identifiers": ["MONDO:0011612", "DOID:9268", "OMIM.PS:605899", "orphanet:407", "UMLS:C0751748", "MESH:D020158", "MEDDRA:10070639", "MEDDRA:10070641", "MEDDRA:10080889", "NCIT:C84937", "SNOMEDCT:237939006", "medgen:155625", "icd11.foundation:1491869639", "ICD10:E72.51", "HP:0008288"], "information_content": 88.2}
{"id": "MONDO:0005942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reye syndrome", "equivalent_identifiers": ["MONDO:0005942", "DOID:14525", "orphanet:3096", "EFO:0007467", "UMLS:C0035400", "MESH:D012202", "MEDDRA:10039012", "NCIT:C34983", "SNOMEDCT:74351001", "medgen:19772", "icd11.foundation:649014905", "ICD10:G93.7", "ICD9:331.81"], "information_content": 100.0}
{"id": "MONDO:0012999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "guanidinoacetate methyltransferase deficiency", "equivalent_identifiers": ["MONDO:0012999", "DOID:0050799", "OMIM:612736", "orphanet:382", "UMLS:C0574080", "MESH:C537622", "NCIT:C173468", "SNOMEDCT:124239003", "medgen:154356", "icd11.foundation:1811642217"], "information_content": 100.0}
{"id": "MONDO:0008760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "beta-ketothiolase deficiency", "equivalent_identifiers": ["MONDO:0008760", "DOID:14723", "OMIM:203750", "orphanet:134", "UMLS:C1533628", "UMLS:C1536500", "MESH:C535434", "MESH:C535818", "MEDDRA:10067728", "NCIT:C98841", "SNOMEDCT:124258007", "SNOMEDCT:237953006", "SNOMEDCT:238067002", "medgen:280689"], "information_content": 100.0}
{"id": "MONDO:0004737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "homocystinuria", "equivalent_identifiers": ["MONDO:0004737", "DOID:9263", "UMLS:C0019880", "MESH:D006712", "MEDDRA:10020365", "NCIT:C84765", "SNOMEDCT:11282001", "medgen:42485", "ICD10:E72.11", "HP:0002156"], "information_content": 81.7}
{"id": "MONDO:0009665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "biotinidase deficiency", "equivalent_identifiers": ["MONDO:0009665", "DOID:856", "OMIM:253260", "orphanet:79241", "UMLS:C0220754", "UMLS:C1854698", "MESH:C565365", "MESH:D028921", "MEDDRA:10071434", "NCIT:C84598", "SNOMEDCT:8808004", "medgen:66323", "ICD10:D81.810"], "information_content": 100.0}
{"id": "MONDO:0000351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disorder of methionine catabolism", "equivalent_identifiers": ["MONDO:0000351", "DOID:0050544", "UMLS:C0268621", "UMLS:C4048705", "MESH:C564683", "MEDDRA:10051245", "MEDDRA:10054414", "SNOMEDCT:124283007", "SNOMEDCT:43123004", "SNOMEDCT:57835009", "medgen:887708", "HP:0003235"], "information_content": 90.9}
{"id": "MONDO:0009282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple acyl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0009282", "DOID:0060358", "OMIM:231680", "orphanet:26791", "UMLS:C0268596", "UMLS:C1856401", "UMLS:C1856403", "UMLS:C1856405", "MESH:D054069", "MEDDRA:10090590", "NCIT:C84907", "SNOMEDCT:22886006", "medgen:75696", "icd11.foundation:977130875", "ICD10:E71.313"], "information_content": 88.2}
{"id": "MONDO:0018950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylcrotonyl-CoA carboxylase deficiency", "equivalent_identifiers": ["MONDO:0018950", "DOID:0050710", "OMIM.PS:210200", "orphanet:6", "UMLS:C4551505", "NCIT:C98674", "SNOMEDCT:13144005", "medgen:1633312"], "information_content": 92.8}
{"id": "UniProtKB:Q96AE7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetratricopeptide repeat protein 17 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AE7-1", "PR:Q96AE7-1", "ENSEMBL:ENSP00000039989", "ENSEMBL:ENSP00000039989.4"], "information_content": 100.0}
{"id": "MONDO:0008867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "biliary atresia", "equivalent_identifiers": ["MONDO:0008867", "DOID:13608", "orphanet:30391", "UMLS:C0005411", "MESH:D001656", "MEDDRA:10003650", "MEDDRA:10004653", "MEDDRA:10004654", "NCIT:C34421", "SNOMEDCT:77480004", "medgen:14117", "icd11.foundation:645741117", "ICD10:Q44.2", "ICD9:751.61", "HP:0005912"], "information_content": 87.2}
{"id": "NCBIGene:3224", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXC8", "equivalent_identifiers": ["NCBIGene:3224", "ENSEMBL:ENSG00000037965", "HGNC:5129", "OMIM:142970", "UMLS:C1415680", "UniProtKB:P31273", "PR:P31273", "ENSEMBL:ENSP00000040584", "ENSEMBL:ENSP00000040584.4", "UMLS:C1453609", "MESH:C489815"], "information_content": 95.4}
{"id": "UniProtKB:Q9BV20-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methylthioribose-1-phosphate isomerase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BV20-1", "PR:Q9BV20-1", "ENSEMBL:ENSP00000040663", "ENSEMBL:ENSP00000040663.5"], "information_content": 100.0}
{"id": "MONDO:0001594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Achilles bursitis", "equivalent_identifiers": ["MONDO:0001594", "DOID:12857", "UMLS:C0149846", "MEDDRA:10000443", "MEDDRA:10065541", "MEDDRA:10083620", "SNOMEDCT:221695002", "medgen:508442", "icd11.foundation:426746156", "ICD10:M76.6"], "information_content": 100.0}
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{"id": "MONDO:0009458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schimke immuno-osseous dysplasia", "equivalent_identifiers": ["MONDO:0009458", "DOID:0060490", "OMIM:242900", "orphanet:1830", "UMLS:C0877024", "MESH:C536629", "MEDDRA:10048699", "NCIT:C135087", "SNOMEDCT:723995003", "medgen:164078", "icd11.foundation:2002226225"], "information_content": 100.0}
{"id": "NCBIGene:6894", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TARBP1", "equivalent_identifiers": ["NCBIGene:6894", "ENSEMBL:ENSG00000059588", "HGNC:11568", "OMIM:605052", "UMLS:C1420585", "UniProtKB:Q13395", "PR:Q13395", "ENSEMBL:ENSP00000040877", "ENSEMBL:ENSP00000040877.1", "UMLS:C0379054", "MESH:C071598"], "information_content": 92.8}
{"id": "MONDO:0010279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "terminal osseous dysplasia-pigmentary defects syndrome", "equivalent_identifiers": ["MONDO:0010279", "DOID:0112149", "OMIM:300244", "orphanet:88630", "UMLS:C1846129", "MESH:C564554", "medgen:335344"], "information_content": 100.0}
{"id": "NCBIGene:65078", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTN4R", "equivalent_identifiers": ["NCBIGene:65078", "ENSEMBL:ENSG00000040608", "HGNC:18601", "OMIM:605566", "UMLS:C1425639", "UniProtKB:Q9BZR6", "PR:Q9BZR6", "ENSEMBL:ENSP00000043402", "ENSEMBL:ENSP00000043402.7", "UMLS:C1434549", "MESH:C486580"], "information_content": 92.8}
{"id": "MONDO:0005301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple sclerosis", "equivalent_identifiers": ["MONDO:0005301", "DOID:2377", "EFO:0803536", "UMLS:C0026769", "MESH:D009103", "MEDDRA:10013451", "MEDDRA:10028053", "MEDDRA:10028245", "MEDDRA:10039720", "NCIT:C3243", "SNOMEDCT:24700007", "medgen:10123", "icd11.foundation:1298865187", "ICD10:G35", "ICD9:340"], "information_content": 81.7}
{"id": "MONDO:0001020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amblyopia", "equivalent_identifiers": ["MONDO:0001020", "DOID:10376", "UMLS:C0002418", "MESH:D000550", "MEDDRA:10001906", "MEDDRA:10001911", "MEDDRA:10001915", "NCIT:C118764", "SNOMEDCT:387742006", "medgen:8009", "ICD10:H53.00", "ICD9:368.00", "HP:0000646"], "information_content": 83.1}
{"id": "MONDO:0003233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kinetic tremor", "equivalent_identifiers": ["MONDO:0003233", "DOID:4990", "OMIM.PS:190300", "EFO:0003108", "UMLS:C0270736", "UMLS:C4551521", "MESH:D020329", "MEDDRA:10004262", "MEDDRA:10015496", "MEDDRA:10015497", "NCIT:C182453", "SNOMEDCT:609558009", "medgen:78725", "ICD10:G25.0", "HP:0030186"], "information_content": 85.5}
{"id": "UniProtKB:P25789-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome subunit alpha type-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P25789-1", "PR:P25789-1", "ENSEMBL:ENSP00000044462", "ENSEMBL:ENSP00000044462.7", "ENSEMBL:ENSP00000453887", "ENSEMBL:ENSP00000453887.1"], "information_content": 100.0}
{"id": "MONDO:0008575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nicotine dependence", "equivalent_identifiers": ["MONDO:0008575", "DOID:0050742", "EFO:0003768", "UMLS:C0028043", "UMLS:C0040336", "MESH:D014029", "MEDDRA:10043903", "MEDDRA:10043906", "MEDDRA:10056478", "MEDDRA:10057852", "NCIT:C35074", "NCIT:C54203", "SNOMEDCT:1345156008", "SNOMEDCT:56294008", "medgen:45086", "icd11.foundation:1699574100", "ICD10:F17", "HP:0033543"], "information_content": 89.4}
{"id": "UniProtKB:Q96MK2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RIPOR family member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MK2-1", "PR:Q96MK2-1", "ENSEMBL:ENSP00000045083", "ENSEMBL:ENSP00000045083.2"], "information_content": 100.0}
{"id": "MONDO:0018830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kimura disease", "equivalent_identifiers": ["MONDO:0018830", "DOID:7365", "orphanet:482", "EFO:1000722", "UMLS:C0033838", "MESH:D000082242", "MESH:D000796", "MEDDRA:10048640", "NCIT:C26867", "SNOMEDCT:399894006", "medgen:46183", "icd11.foundation:1229046951"], "information_content": 100.0}
{"id": "MONDO:0010169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 2A", "equivalent_identifiers": ["MONDO:0010169", "DOID:0110838", "OMIM:276901", "UMLS:C1848634", "MESH:C536490", "medgen:338513"], "information_content": 100.0}
{"id": "UniProtKB:Q9BS86-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zona pellucida-binding protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BS86-1", "PR:Q9BS86-1", "ENSEMBL:ENSP00000046087", "ENSEMBL:ENSP00000046087.2"], "information_content": 100.0}
{"id": "MONDO:0001498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "varicocele", "equivalent_identifiers": ["MONDO:0001498", "DOID:12337", "UMLS:C0042341", "MESH:D014646", "MEDDRA:10033566", "MEDDRA:10039761", "MEDDRA:10039762", "MEDDRA:10046986", "MEDDRA:10046992", "SNOMEDCT:46871008", "SNOMEDCT:51070004", "medgen:22619", "ICD10:I86.1", "ICD9:456.4", "HP:0012871"], "information_content": 100.0}
{"id": "NCBIGene:3937", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCP2", "equivalent_identifiers": ["NCBIGene:3937", "ENSEMBL:ENSG00000043462", "HGNC:6529", "OMIM:601603", "UMLS:C1334333", "UniProtKB:Q13094", "PR:Q13094", "ENSEMBL:ENSP00000046794", "ENSEMBL:ENSP00000046794.5", "UMLS:C1743669"], "information_content": 92.8}
{"id": "MONDO:0019297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphedema", "equivalent_identifiers": ["MONDO:0019297", "DOID:4977", "UMLS:C0024236", "UMLS:C0240278", "UMLS:C1835229", "MESH:D008209", "MEDDRA:10025233", "MEDDRA:10025282", "MEDDRA:10025284", "MEDDRA:10052315", "MEDDRA:10052790", "MEDDRA:10087604", "NCIT:C3207", "SNOMEDCT:234097001", "SNOMEDCT:30213001", "medgen:6155", "HP:0001004"], "information_content": 72.5}
{"id": "DOID:9169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wiskott-Aldrich syndrome", "equivalent_identifiers": ["DOID:9169", "OMIM:301000", "UMLS:C0043194", "MESH:D014923", "MEDDRA:10001659", "MEDDRA:10047992", "NCIT:C3448", "SNOMEDCT:36070007", "ICD10:D82.0", "ICD9:279.12"], "information_content": 92.8}
{"id": "UniProtKB:P07585-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "decorin isoform A (human)", "equivalent_identifiers": ["UniProtKB:P07585-1", "PR:P07585-1", "ENSEMBL:ENSP00000052754", "ENSEMBL:ENSP00000052754.5", "ENSEMBL:ENSP00000447654", "ENSEMBL:ENSP00000447654.1"], "information_content": 90.9}
{"id": "MONDO:0005178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoarthritis", "equivalent_identifiers": ["MONDO:0005178", "DOID:8398", "UMLS:C0029408", "UMLS:C0157946", "MESH:D010003", "MEDDRA:10031161", "MEDDRA:10031167", "MEDDRA:10031174", "MEDDRA:10031186", "MEDDRA:10031216", "MEDDRA:10049491", "NCIT:C3293", "SNOMEDCT:225655006", "SNOMEDCT:396275006", "medgen:45244", "icd11.foundation:558562409", "ICD9:715.3", "HP:0002758"], "information_content": 83.1}
{"id": "MONDO:0000733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cornea plana", "equivalent_identifiers": ["MONDO:0000733", "DOID:0060287", "OMIM.PS:121400", "orphanet:53691", "UMLS:C0344529", "SNOMEDCT:204145006", "medgen:576329", "icd11.foundation:262157734", "ICD10:Q13.4", "HP:0007720"], "information_content": 92.8}
{"id": "MONDO:0011385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intervertebral disk degenerative disorder", "equivalent_identifiers": ["MONDO:0011385", "DOID:90", "OMIM:603932", "EFO:0004994", "UMLS:C0158266", "MESH:D055959", "MEDDRA:10012152", "MEDDRA:10022627", "MEDDRA:10061246", "MEDDRA:10070241", "NCIT:C26983", "SNOMEDCT:77547008", "medgen:102357", "HP:0008419"], "information_content": 90.9}
{"id": "MONDO:0019407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephalic osteodysplastic dysplasia, Saul-Wilson type", "equivalent_identifiers": ["MONDO:0019407", "DOID:0111673", "OMIM:618150", "orphanet:85172", "UMLS:C1300285", "medgen:722057", "icd11.foundation:738688839"], "information_content": 100.0}
{"id": "MONDO:0008231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Peyronie disease", "equivalent_identifiers": ["MONDO:0008231", "DOID:8616", "OMIM:171000", "EFO:1000466", "UMLS:C0030848", "MESH:D010411", "MEDDRA:10034765", "MEDDRA:10034766", "MEDDRA:10053605", "MEDDRA:10053606", "MEDDRA:10053607", "NCIT:C3316", "SNOMEDCT:1335005", "medgen:10629", "ICD10:N48.6", "ICD9:607.85"], "information_content": 100.0}
{"id": "MONDO:0001875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epicondylitis", "equivalent_identifiers": ["MONDO:0001875", "DOID:14087", "DOID:14088", "EFO:1001887", "EFO:1001896", "UMLS:C0014488", "UMLS:C0039516", "UMLS:C0158309", "MESH:D013716", "MEDDRA:10014971", "MEDDRA:10018503", "MEDDRA:10024032", "MEDDRA:10027064", "MEDDRA:10043258", "MEDDRA:10068808", "NCIT:C34589", "NCIT:C35067", "SNOMEDCT:202855006", "SNOMEDCT:53286005", "SNOMEDCT:73583000", "medgen:4090", "ICD10:M77.1", "ICD9:726.32"], "information_content": 95.4}
{"id": "MONDO:0012511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preterm premature rupture of the membranes", "equivalent_identifiers": ["MONDO:0012511", "DOID:0111144", "OMIM:610504", "UMLS:C0729264", "MESH:C563032", "MEDDRA:10073024", "NCIT:C92862", "SNOMEDCT:312974005", "medgen:147582", "HP:6000310"], "information_content": 100.0}
{"id": "MONDO:0018849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentinogenesis imperfecta", "equivalent_identifiers": ["MONDO:0018849", "DOID:4154", "orphanet:49042", "UMLS:C0011436", "MESH:D003811", "MEDDRA:10054013", "NCIT:C84667", "SNOMEDCT:196286005", "medgen:8313", "icd11.foundation:2090257992", "HP:0000703"], "information_content": 90.9}
{"id": "MONDO:0001950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal ectasia", "equivalent_identifiers": ["MONDO:0001950", "DOID:1436", "UMLS:C0155135", "MEDDRA:10011006", "SNOMEDCT:14748007", "medgen:509803", "icd11.foundation:1703179358", "ICD10:H18.71", "ICD9:371.71"], "information_content": 100.0}
{"id": "MONDO:0011284", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "astigmatism", "equivalent_identifiers": ["MONDO:0011284", "DOID:11782", "OMIM:603047", "UMLS:C0004106", "MESH:D001251", "MEDDRA:10003569", "MEDDRA:10003570", "SNOMEDCT:82649003", "medgen:2473", "icd11.foundation:402558626", "ICD10:H52.2", "ICD9:367.2", "HP:0000483"], "information_content": 84.8}
{"id": "MONDO:0004860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitreous disorder", "equivalent_identifiers": ["MONDO:0004860", "DOID:9720", "UMLS:C0029872", "UMLS:C0700141", "medgen:1843447", "ICD10:H43.39", "ICD9:379.24"], "information_content": 75.3}
{"id": "MONDO:0008818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arterial tortuosity syndrome", "equivalent_identifiers": ["MONDO:0008818", "DOID:0050645", "OMIM:208050", "orphanet:3342", "UMLS:C1859726", "MESH:C565942", "MEDDRA:10080250", "SNOMEDCT:458432002", "medgen:347942", "icd11.foundation:371764699"], "information_content": 100.0}
{"id": "UniProtKB:Q02223-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02223-1", "PR:Q02223-1", "ENSEMBL:ENSP00000053243", "ENSEMBL:ENSP00000053243.1"], "information_content": 100.0}
{"id": "MONDO:0009693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plasma cell myeloma", "equivalent_identifiers": ["MONDO:0009693", "DOID:9538", "OMIM:254500", "orphanet:29073", "EFO:0001378", "UMLS:C0026764", "MESH:D009101", "MEDDRA:10028228", "MEDDRA:10028566", "MEDDRA:10028568", "MEDDRA:10028569", "MEDDRA:10034613", "MEDDRA:10035226", "MEDDRA:10074470", "NCIT:C3242", "SNOMEDCT:109989006", "SNOMEDCT:1162576007", "SNOMEDCT:55921005", "medgen:10122", "icd11.foundation:1582389689", "icd11.foundation:526287100", "ICD10:C90.0", "ICD9:203.0", "HP:0006775"], "information_content": 67.7}
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{"id": "MONDO:0005059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukemia", "equivalent_identifiers": ["MONDO:0005059", "DOID:1240", "EFO:0000565", "UMLS:C0023418", "MESH:D007938", "MEDDRA:10024288", "MEDDRA:10024312", "MEDDRA:10024314", "MEDDRA:10024323", "MEDDRA:10024324", "MEDDRA:10024329", "MEDDRA:10024351", "MEDDRA:10024352", "MEDDRA:10045991", "MEDDRA:10045992", "MEDDRA:10045994", "MEDDRA:10060430", "MEDDRA:10060500", "NCIT:C3161", "SNOMEDCT:1162768007", "SNOMEDCT:87163000", "SNOMEDCT:93143009", "medgen:9725", "ICD10:C95.90", "ICD9:208", "HP:0001909"], "information_content": 55.7}
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{"id": "MONDO:0100288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enhanced S-cone syndrome", "equivalent_identifiers": ["MONDO:0100288", "DOID:0090059", "OMIM:268100", "UMLS:C1849394", "MESH:C564835", "medgen:341446"], "information_content": 100.0}
{"id": "MONDO:0012946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 3", "equivalent_identifiers": ["MONDO:0012946", "DOID:0070033", "OMIM:612580", "UMLS:C2675488", "MESH:C567241", "medgen:436447"], "information_content": 100.0}
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{"id": "MONDO:0008201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perry syndrome", "equivalent_identifiers": ["MONDO:0008201", "DOID:0060486", "OMIM:168605", "orphanet:178509", "UMLS:C1868594", "MESH:C566822", "MEDDRA:10079207", "SNOMEDCT:699184009", "medgen:357007", "icd11.foundation:1441227658"], "information_content": 100.0}
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{"id": "MONDO:0001712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alexia", "equivalent_identifiers": ["MONDO:0001712", "DOID:13417", "UMLS:C0002018", "UMLS:C0013388", "MESH:D004411", "MEDDRA:10001663", "SNOMEDCT:9236007", "medgen:1809", "icd11.foundation:262295178", "ICD9:315.01", "HP:0010523"], "information_content": 100.0}
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{"id": "MONDO:0010100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tay-Sachs disease", "equivalent_identifiers": ["MONDO:0010100", "DOID:3320", "OMIM:272800", "orphanet:845", "UMLS:C0039373", "UMLS:C0268277", "UMLS:C0282220", "UMLS:C1848913", "UMLS:C1848915", "UMLS:C1848917", "UMLS:C2749283", "MESH:C564782", "MESH:C564784", "MESH:C564786", "MESH:C567601", "MESH:D013661", "MEDDRA:10043147", "MEDDRA:10061888", "NCIT:C85184", "SNOMEDCT:111385000", "SNOMEDCT:49562005", "medgen:11713", "icd11.foundation:215008783", "ICD10:E75.02"], "information_content": 89.4}
{"id": "MONDO:0850292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subjective cognitive decline", "equivalent_identifiers": ["MONDO:0850292", "DOID:0080831"], "information_content": 100.0}
{"id": "MONDO:0018868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metachromatic leukodystrophy", "equivalent_identifiers": ["MONDO:0018868", "DOID:10581", "orphanet:512", "UMLS:C0023522", "MESH:D007966", "MEDDRA:10067609", "NCIT:C61251", "SNOMEDCT:238031009", "SNOMEDCT:396338004", "SNOMEDCT:66521008", "medgen:6071", "icd11.foundation:172326564", "ICD10:E75.25"], "information_content": 89.4}
{"id": "MONDO:0008322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudoachondroplasia", "equivalent_identifiers": ["MONDO:0008322", "DOID:0080047", "OMIM:177170", "orphanet:750", "UMLS:C0410538", "MESH:C535819", "NCIT:C118635", "SNOMEDCT:22567005", "medgen:98378", "icd11.foundation:1192649257"], "information_content": 100.0}
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{"id": "MONDO:0003441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia", "equivalent_identifiers": ["MONDO:0003441", "DOID:543", "UMLS:C0013421", "UMLS:C0393593", "UMLS:C4020871", "MESH:D004421", "MESH:D020821", "MEDDRA:10013983", "MEDDRA:10013985", "NCIT:C34563", "SNOMEDCT:15802004", "medgen:3940", "ICD10:G24", "HP:0001332"], "information_content": 69.8}
{"id": "MONDO:0013886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar dysfunction with variable cognitive and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0013886", "DOID:0050998", "OMIM:614756", "orphanet:314647", "UMLS:C3553661", "UMLS:C4509917", "SNOMEDCT:723441001", "medgen:766575"], "information_content": 100.0}
{"id": "MONDO:0013396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1p32-p31 deletion syndrome", "equivalent_identifiers": ["MONDO:0013396", "DOID:0060409", "orphanet:401986", "UMLS:C2930944", "UMLS:C4707828", "MESH:C535594", "SNOMEDCT:766766005", "medgen:1636078"], "information_content": 100.0}
{"id": "MONDO:0011929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1p36 deletion syndrome", "equivalent_identifiers": ["MONDO:0011929", "DOID:0060410", "OMIM:607872", "orphanet:1606", "UMLS:C1842870", "MESH:C535362", "MEDDRA:10082398", "NCIT:C74983", "SNOMEDCT:699306003", "medgen:334629"], "information_content": 100.0}
{"id": "NCBIGene:9341", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VAMP3", "equivalent_identifiers": ["NCBIGene:9341", "ENSEMBL:ENSG00000049245", "HGNC:12644", "OMIM:603657", "UMLS:C1421420", "UniProtKB:Q15836", "PR:Q15836", "ENSEMBL:ENSP00000054666", "ENSEMBL:ENSP00000054666.6", "UMLS:C1564894", "MESH:C494946", "UniProtKB:Q6FGG2"], "information_content": 95.4}
{"id": "MONDO:0005498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "botulism", "equivalent_identifiers": ["MONDO:0005498", "DOID:11976", "orphanet:1267", "EFO:0005542", "UMLS:C0006057", "MESH:D001906", "MEDDRA:10006041", "MEDDRA:10009656", "NCIT:C84599", "SNOMEDCT:398565003", "medgen:14204", "icd11.foundation:78422942", "ICD10:A05.1"], "information_content": 85.5}
{"id": "UniProtKB:O95399-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "urotensin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O95399-2", "PR:O95399-2", "ENSEMBL:ENSP00000054668", "ENSEMBL:ENSP00000054668.5"], "information_content": 100.0}
{"id": "MONDO:0005080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "portal hypertension", "equivalent_identifiers": ["MONDO:0005080", "DOID:10762", "EFO:0000666", "UMLS:C0020541", "MESH:D006975", "MEDDRA:10020786", "MEDDRA:10036200", "MEDDRA:10036201", "NCIT:C3119", "SNOMEDCT:34742003", "medgen:9375", "icd11.foundation:1506184775", "ICD10:K76.6", "ICD9:572.3", "HP:0001409"], "information_content": 89.4}
{"id": "UniProtKB:Q15293-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reticulocalbin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15293-1", "PR:Q15293-1", "ENSEMBL:ENSP00000054950", "ENSEMBL:ENSP00000054950.4"], "information_content": 100.0}
{"id": "DOID:14515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "WAGR syndrome", "equivalent_identifiers": ["DOID:14515", "OMIM:194072", "UMLS:C0206115", "MESH:D017624", "NCIT:C3718", "SNOMEDCT:4135001", "SNOMEDCT:715215007"], "information_content": 92.8}
{"id": "UniProtKB:P35250-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "replication factor C subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35250-1", "PR:P35250-1", "ENSEMBL:ENSP00000055077", "ENSEMBL:ENSP00000055077.3"], "information_content": 100.0}
{"id": "MONDO:0008678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Williams syndrome", "equivalent_identifiers": ["MONDO:0008678", "DOID:1928", "OMIM:194050", "orphanet:904", "UMLS:C0175702", "MESH:D018980", "MEDDRA:10049644", "NCIT:C85232", "SNOMEDCT:63247009", "medgen:59799", "ICD10:Q93.82"], "information_content": 100.0}
{"id": "MONDO:0008504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "supravalvular aortic stenosis", "equivalent_identifiers": ["MONDO:0008504", "DOID:1929", "OMIM:185500", "orphanet:3193", "UMLS:C0003499", "UMLS:C2936909", "MESH:C538461", "MESH:D021921", "MEDDRA:10042598", "NCIT:C85176", "SNOMEDCT:268185002", "medgen:2001", "icd11.foundation:1066595728", "ICD10:Q25.3", "HP:0004381"], "information_content": 95.4}
{"id": "MONDO:0007201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BPES type I", "equivalent_identifiers": ["MONDO:0007201", "DOID:14778", "OMIM:110100", "orphanet:126", "UMLS:C0220663", "UMLS:C1862260", "UMLS:C1862261", "UMLS:C1862262", "UMLS:C1862263", "UMLS:C1862264", "MESH:C562419", "MESH:C566222", "MEDDRA:10081258", "MEDDRA:10081259", "MEDDRA:10081260", "MEDDRA:10081261", "SNOMEDCT:715391004", "medgen:66312"], "information_content": 88.2}
{"id": "UniProtKB:Q6ZSY5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1 regulatory subunit 3F isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZSY5-1", "PR:Q6ZSY5-1", "ENSEMBL:ENSP00000055335", "ENSEMBL:ENSP00000055335.6"], "information_content": 100.0}
{"id": "MONDO:0015021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia, ataxia, and delayed development syndrome", "equivalent_identifiers": ["MONDO:0015021", "DOID:0081176", "OMIM:617330", "orphanet:658843", "UMLS:C4310618", "medgen:934585"], "information_content": 100.0}
{"id": "MONDO:0014664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 23", "equivalent_identifiers": ["MONDO:0014664", "DOID:0110992", "OMIM:616490", "UMLS:C4084822", "medgen:900119"], "information_content": 100.0}
{"id": "MONDO:0005259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Asperger syndrome", "equivalent_identifiers": ["MONDO:0005259", "DOID:0050432", "EFO:0003757", "UMLS:C0236792", "UMLS:C1306578", "MESH:D020817", "MEDDRA:10003484", "MEDDRA:10003485", "NCIT:C97159", "SNOMEDCT:23560001", "medgen:68633", "icd11.foundation:366940030", "ICD10:F84.5"], "information_content": 86.3}
{"id": "MONDO:0010482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked parkinsonism-spasticity syndrome", "equivalent_identifiers": ["MONDO:0010482", "DOID:0112105", "OMIM:300911", "orphanet:363654", "UMLS:C3806722", "SNOMEDCT:770757004", "medgen:813052"], "information_content": 100.0}
{"id": "MONDO:0011529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 13", "equivalent_identifiers": ["MONDO:0011529", "DOID:0050963", "OMIM:605259", "orphanet:98768", "UMLS:C1854488", "MESH:C537195", "SNOMEDCT:719209002", "medgen:344297", "icd11.foundation:1191033828"], "information_content": 100.0}
{"id": "MONDO:0007298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 29", "equivalent_identifiers": ["MONDO:0007298", "DOID:0050978", "OMIM:117360", "orphanet:208513", "UMLS:C1861732", "MESH:C537206", "SNOMEDCT:715825009", "medgen:350085", "icd11.foundation:359640365"], "information_content": 100.0}
{"id": "MONDO:0010848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 5", "equivalent_identifiers": ["MONDO:0010848", "DOID:0050882", "OMIM:600224", "orphanet:98766", "UMLS:C0752123", "SNOMEDCT:719302009", "medgen:155705", "icd11.foundation:78905851"], "information_content": 100.0}
{"id": "MONDO:0010053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spherocytosis type 3", "equivalent_identifiers": ["MONDO:0010053", "DOID:0110918", "OMIM:270970", "UMLS:C2678338", "MESH:C567489", "medgen:394798"], "information_content": 100.0}
{"id": "NCBIGene:340533", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEXMIF", "equivalent_identifiers": ["NCBIGene:340533", "ENSEMBL:ENSG00000050030", "HGNC:29433", "OMIM:300524", "UMLS:C1845260", "UniProtKB:Q5QGS0", "PR:Q5QGS0", "ENSEMBL:ENSP00000055682", "ENSEMBL:ENSP00000055682.5", "ENSEMBL:ENSP00000480284", "ENSEMBL:ENSP00000480284.1", "UMLS:C4041927", "MESH:C000598871"], "information_content": 100.0}
{"id": "MONDO:0007846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "KBG syndrome", "equivalent_identifiers": ["MONDO:0007846", "DOID:14780", "OMIM:148050", "orphanet:2332", "UMLS:C0220687", "MESH:C537015", "MEDDRA:10084411", "SNOMEDCT:711156009", "medgen:66317", "icd11.foundation:465550090"], "information_content": 100.0}
{"id": "MONDO:0020290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial atrioventricular septal defect", "equivalent_identifiers": ["MONDO:0020290", "DOID:0050651", "OMIM.PS:606215", "orphanet:98722", "UMLS:C0014116", "UMLS:C1389016", "UMLS:C4732742", "MESH:D004694", "MEDDRA:10014656", "MEDDRA:10014658", "MEDDRA:10057460", "NCIT:C101029", "SNOMEDCT:15459006", "ICD9:745.6", "HP:0006695"], "information_content": 81.7}
{"id": "MONDO:0014398", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 21", "equivalent_identifiers": ["MONDO:0014398", "DOID:0111465", "OMIM:615918", "orphanet:420733", "EFO:0009032", "UMLS:C4706316", "SNOMEDCT:763211004", "medgen:1638633"], "information_content": 100.0}
{"id": "MONDO:0010523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked reticulate pigmentary disorder", "equivalent_identifiers": ["MONDO:0010523", "DOID:0111834", "OMIM:301220", "orphanet:85453", "UMLS:C1845050", "MESH:C564461", "SNOMEDCT:717224002", "medgen:336844"], "information_content": 100.0}
{"id": "MONDO:0010726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rett syndrome", "equivalent_identifiers": ["MONDO:0010726", "DOID:1206", "OMIM:312750", "orphanet:778", "UMLS:C0035372", "UMLS:C1839332", "UMLS:C2677682", "MESH:C564063", "MESH:C567442", "MESH:D015518", "MEDDRA:10039000", "MEDDRA:10077709", "NCIT:C75488", "SNOMEDCT:68618008", "medgen:48441", "icd11.foundation:201200685", "ICD10:F84.2"], "information_content": 90.9}
{"id": "MONDO:0013479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1HH", "equivalent_identifiers": ["MONDO:0013479", "DOID:0110448", "OMIM:613881", "UMLS:C3151293", "NCIT:C192082", "medgen:462643"], "information_content": 100.0}
{"id": "MONDO:0010457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ogden syndrome", "equivalent_identifiers": ["MONDO:0010457", "DOID:0050781", "OMIM:300855", "orphanet:276432", "UMLS:C2931113", "UMLS:C3275447", "MESH:C536107", "MEDDRA:10082376", "NCIT:C188215", "SNOMEDCT:771442003", "medgen:477078"], "information_content": 100.0}
{"id": "UniProtKB:Q12774-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12774-1", "PR:Q12774-1", "ENSEMBL:ENSP00000056217", "ENSEMBL:ENSP00000056217.5"], "information_content": 100.0}
{"id": "NCBIGene:9603", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NFE2L3", "equivalent_identifiers": ["NCBIGene:9603", "ENSEMBL:ENSG00000050344", "HGNC:7783", "OMIM:604135", "UMLS:C1417702", "UniProtKB:Q9Y4A8", "PR:Q9Y4A8", "ENSEMBL:ENSP00000056233", "ENSEMBL:ENSP00000056233.3", "UMLS:C0764838", "MESH:C117963"], "information_content": 89.4}
{"id": "UniProtKB:O43897-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tolloid-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43897-1", "PR:O43897-1", "ENSEMBL:ENSP00000061240", "ENSEMBL:ENSP00000061240.2"], "information_content": 100.0}
{"id": "MONDO:0014215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 27", "equivalent_identifiers": ["MONDO:0014215", "DOID:0110611", "OMIM:615504", "UMLS:C3809701", "medgen:816031"], "information_content": 100.0}
{"id": "MONDO:0019019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta", "equivalent_identifiers": ["MONDO:0019019", "DOID:12347", "OMIM.PS:166200", "orphanet:666", "UMLS:C0029434", "MESH:D010013", "MEDDRA:10006371", "MEDDRA:10031243", "NCIT:C26837", "SNOMEDCT:78314001", "medgen:45246", "icd11.foundation:1219932551", "ICD9:756.51"], "information_content": 72.7}
{"id": "MONDO:0007059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrorenal syndrome", "equivalent_identifiers": ["MONDO:0007059", "DOID:0060347", "OMIM:102520", "orphanet:971", "UMLS:C3495490", "MESH:C563159", "SNOMEDCT:720458005", "medgen:501193", "icd11.foundation:1948375645"], "information_content": 95.4}
{"id": "MONDO:0005146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "post-traumatic stress disorder", "equivalent_identifiers": ["MONDO:0005146", "DOID:2055", "EFO:0001358", "UMLS:C0038436", "UMLS:C5539757", "MESH:D013313", "MEDDRA:10036316", "NCIT:C3389", "SNOMEDCT:47505003", "medgen:21345", "ICD10:F43.1", "ICD9:309.81", "HP:0033676"], "information_content": 100.0}
{"id": "NCBIGene:140689", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CBLN4", "equivalent_identifiers": ["NCBIGene:140689", "ENSEMBL:ENSG00000054803", "HGNC:16231", "OMIM:615029", "UMLS:C1539064", "UniProtKB:Q9NTU7", "PR:Q9NTU7", "ENSEMBL:ENSP00000064571", "ENSEMBL:ENSP00000064571.2"], "information_content": 89.4}
{"id": "MONDO:0002768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hermaphroditism", "equivalent_identifiers": ["MONDO:0002768", "DOID:3763", "UMLS:C0019269", "UMLS:C0266361", "MEDDRA:10019906", "NCIT:C45909", "NCIT:C85207", "SNOMEDCT:237821001", "medgen:78595", "HP:0010459"], "information_content": 100.0}
{"id": "MONDO:0008015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "motion sickness", "equivalent_identifiers": ["MONDO:0008015", "DOID:2951", "OMIM:158280", "EFO:0006928", "UMLS:C0026603", "MESH:D009041", "MEDDRA:10027990", "MEDDRA:10044548", "MEDDRA:10044549", "NCIT:C34824", "SNOMEDCT:37031009", "medgen:44503", "icd11.foundation:1078108554", "ICD10:T75.3", "ICD9:994.6"], "information_content": 90.9}
{"id": "NCBIGene:5010", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN11", "equivalent_identifiers": ["NCBIGene:5010", "ENSEMBL:ENSG00000013297", "HGNC:8514", "OMIM:601326", "UMLS:C1418194", "UniProtKB:O75508", "PR:O75508", "ENSEMBL:ENSP00000064724", "ENSEMBL:ENSP00000064724.4", "UMLS:C1449289", "MESH:C120453"], "information_content": 95.4}
{"id": "MONDO:0001294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Horner syndrome", "equivalent_identifiers": ["MONDO:0001294", "DOID:11486", "UMLS:C0019937", "UMLS:C5779792", "MESH:D006732", "MEDDRA:10020392", "NCIT:C28155", "SNOMEDCT:12731000", "SNOMEDCT:1281810006", "SNOMEDCT:192915005", "SNOMEDCT:271730003", "medgen:5616", "icd11.foundation:178756462", "ICD10:G90.2", "HP:0002277"], "information_content": 95.4}
{"id": "UniProtKB:Q92567-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM168A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92567-1", "PR:Q92567-1", "ENSEMBL:ENSP00000064778", "ENSEMBL:ENSP00000064778.4"], "information_content": 100.0}
{"id": "MONDO:0004631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tongue cancer", "equivalent_identifiers": ["MONDO:0004631", "DOID:8649", "UMLS:C0153349", "UMLS:C0153350", "UMLS:C0153351", "UMLS:C0153354", "UMLS:C0153356", "UMLS:C0474963", "UMLS:C0496755", "UMLS:C0684333", "MESH:D014062", "MEDDRA:10025702", "MEDDRA:10025733", "MEDDRA:10025884", "MEDDRA:10026006", "MEDDRA:10026075", "MEDDRA:10026537", "MEDDRA:10026538", "MEDDRA:10026630", "MEDDRA:10026703", "MEDDRA:10026704", "MEDDRA:10043966", "NCIT:C194029", "NCIT:C194030", "NCIT:C194031", "NCIT:C194033", "NCIT:C3524", "NCIT:C9345", "SNOMEDCT:187633009", "SNOMEDCT:187637005", "SNOMEDCT:187644001", "SNOMEDCT:363360003", "SNOMEDCT:363375006", "SNOMEDCT:363376007", "SNOMEDCT:363377003", "SNOMEDCT:371974006", "medgen:102262", "ICD10:C01", "ICD10:C02.0", "ICD10:C02.1", "ICD10:C02.2", "ICD10:C02.4", "ICD10:C02.9", "ICD9:141", "ICD9:141.0", "ICD9:141.1", "ICD9:141.2", "ICD9:141.3", "ICD9:141.5", "ICD9:141.6"], "information_content": 78.0}
{"id": "MONDO:0012670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 63", "equivalent_identifiers": ["MONDO:0012670", "DOID:0110515", "OMIM:611451", "UMLS:C1969621", "MESH:C566951", "medgen:409872"], "information_content": 100.0}
{"id": "NCBIGene:84957", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RELT", "equivalent_identifiers": ["NCBIGene:84957", "ENSEMBL:ENSG00000054967", "HGNC:13764", "OMIM:611211", "UMLS:C1422189", "UniProtKB:Q969Z4", "PR:Q969Z4", "ENSEMBL:ENSP00000064780", "ENSEMBL:ENSP00000064780.2", "ENSEMBL:ENSP00000377207", "ENSEMBL:ENSP00000377207.2", "UMLS:C5202848"], "information_content": 86.3}
{"id": "UniProtKB:Q99959-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plakophilin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99959-1", "PR:Q99959-1", "ENSEMBL:ENSP00000070846", "ENSEMBL:ENSP00000070846.6"], "information_content": 100.0}
{"id": "MONDO:0016587", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular cardiomyopathy", "equivalent_identifiers": ["MONDO:0016587", "DOID:0050431", "orphanet:247", "UMLS:C0349788", "MESH:D019571", "MEDDRA:10058093", "MEDDRA:10087108", "NCIT:C84571", "SNOMEDCT:253528005", "SNOMEDCT:281170005", "medgen:87618"], "information_content": 80.6}
{"id": "MONDO:0015263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome", "equivalent_identifiers": ["MONDO:0015263", "DOID:0050451", "OMIM.PS:601144", "orphanet:130", "UMLS:C1142166", "UMLS:C1721096", "MESH:D053840", "MEDDRA:10059027", "NCIT:C142891", "SNOMEDCT:418818005", "medgen:222975", "icd11.foundation:1250136584", "ICD10:I49.8"], "information_content": 84.8}
{"id": "MONDO:0006590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratosis", "equivalent_identifiers": ["MONDO:0006590", "DOID:3390", "EFO:1000745", "UMLS:C0022596", "NCIT:C34748", "SNOMEDCT:706885006", "medgen:44017", "ICD10:L85.2", "HP:0000972"], "information_content": 70.8}
{"id": "MONDO:0017401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALVC", "equivalent_identifiers": ["MONDO:0017401", "DOID:0070534", "orphanet:293888", "UMLS:C5925017", "medgen:1863454"], "information_content": 100.0}
{"id": "MONDO:0005021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy", "equivalent_identifiers": ["MONDO:0005021", "DOID:12930", "orphanet:217604", "EFO:0000407", "UMLS:C0007193", "MESH:D002311", "MEDDRA:10010681", "MEDDRA:10056370", "MEDDRA:10056419", "NCIT:C84673", "SNOMEDCT:195021004", "SNOMEDCT:399020009", "medgen:2880", "icd11.foundation:1916294688", "KEGG.DISEASE:05414", "HP:0001644"], "information_content": 70.1}
{"id": "MONDO:0017990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "catecholaminergic polymorphic ventricular tachycardia", "equivalent_identifiers": ["MONDO:0017990", "DOID:0060674", "OMIM.PS:604772", "orphanet:3286", "UMLS:C5574922", "MESH:C536334", "MESH:D000098850", "NCIT:C99936", "SNOMEDCT:419671004", "medgen:1803763", "icd11.foundation:976309888", "ICD10:I47.2"], "information_content": 86.3}
{"id": "DOID:10272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "left bundle branch hemiblock", "equivalent_identifiers": ["DOID:10272", "UMLS:C0155702", "MEDDRA:10024101", "SNOMEDCT:4973001", "ICD10:I44.60", "ICD9:426.2"]}
{"id": "DOID:13209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "right bundle branch block", "equivalent_identifiers": ["DOID:13209", "UMLS:C0155704", "MEDDRA:10039149", "SNOMEDCT:46319007", "ICD9:426.51"]}
{"id": "MONDO:0002442", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome", "equivalent_identifiers": ["MONDO:0002442", "DOID:2843", "UMLS:C0023976", "MESH:D008133", "MEDDRA:10024803", "NCIT:C34786", "SNOMEDCT:9651007", "medgen:44193", "ICD10:I45.81", "ICD9:426.82"], "information_content": 78.3}
{"id": "MONDO:0017402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial isolated arrhythmogenic ventricular dysplasia, biventricular form", "equivalent_identifiers": ["MONDO:0017402", "DOID:0070535", "orphanet:293899", "UMLS:C5925016", "medgen:1864265"], "information_content": 100.0}
{"id": "MONDO:0018901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "left ventricular noncompaction", "equivalent_identifiers": ["MONDO:0018901", "DOID:0060480", "OMIM.PS:604169", "orphanet:54260", "UMLS:C1960469", "MEDDRA:10091247", "NCIT:C99544", "medgen:450531", "HP:0030682"], "information_content": 82.1}
{"id": "MONDO:0000745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac arrest", "equivalent_identifiers": ["MONDO:0000745", "DOID:0060319", "EFO:0009492", "UMLS:C0018790", "UMLS:C0444720", "MESH:D006323", "MEDDRA:10003109", "MEDDRA:10003586", "MEDDRA:10003587", "MEDDRA:10003589", "MEDDRA:10007515", "MEDDRA:10019249", "MEDDRA:10041914", "MEDDRA:10047284", "MEDDRA:10047285", "MEDDRA:10082515", "NCIT:C50479", "SNOMEDCT:261195002", "SNOMEDCT:397829000", "SNOMEDCT:410429000", "medgen:5456", "icd11.foundation:395422191", "ICD10:I46", "ICD9:427.5", "HP:0001695"], "information_content": 85.5}
{"id": "MONDO:0004496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myocarditis", "equivalent_identifiers": ["MONDO:0004496", "DOID:820", "EFO:0009609", "UMLS:C0027059", "MESH:D009205", "MEDDRA:10028606", "MEDDRA:10028613", "MEDDRA:10028619", "NCIT:C34831", "SNOMEDCT:50920009", "medgen:44553", "icd11.foundation:1018829714", "ICD10:I51.4", "ICD9:429.0", "KEGG.DISEASE:05416", "HP:0012819"], "information_content": 83.6}
{"id": "MONDO:0000453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short QT syndrome", "equivalent_identifiers": ["MONDO:0000453", "DOID:0050793", "OMIM.PS:609620", "orphanet:51083", "UMLS:C2348199", "MESH:C580439", "NCIT:C71060", "SNOMEDCT:698272007", "medgen:378835", "icd11.foundation:553392015"], "information_content": 89.4}
{"id": "MONDO:0005201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "restrictive cardiomyopathy", "equivalent_identifiers": ["MONDO:0005201", "DOID:397", "orphanet:217632", "EFO:0002630", "UMLS:C0007196", "MESH:D002313", "MEDDRA:10038748", "NCIT:C62798", "SNOMEDCT:415295002", "SNOMEDCT:90828009", "medgen:40111", "icd11.foundation:316495940", "ICD10:I42.5", "HP:0001723"], "information_content": 76.2}
{"id": "MONDO:0004981", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial fibrillation", "equivalent_identifiers": ["MONDO:0004981", "DOID:0060224", "EFO:0000275", "UMLS:C0004238", "MESH:D001281", "MEDDRA:10001452", "MEDDRA:10003658", "MEDDRA:10003796", "MEDDRA:10016566", "NCIT:C50466", "SNOMEDCT:49436004", "medgen:445", "icd11.foundation:171698302", "ICD9:427.31", "HP:0005110"], "information_content": 79.6}
{"id": "MONDO:0000465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrioventricular block", "equivalent_identifiers": ["MONDO:0000465", "DOID:0050820", "UMLS:C0004245", "UMLS:C1841659", "MESH:D054537", "MEDDRA:10003671", "MEDDRA:10003672", "MEDDRA:10003676", "MEDDRA:10003680", "MEDDRA:10003846", "MEDDRA:10003847", "MEDDRA:10019254", "MEDDRA:10019255", "NCIT:C26703", "SNOMEDCT:233917008", "medgen:13956", "ICD10:I44.3", "ICD9:426.10", "HP:0001678"], "information_content": 84.2}
{"id": "MONDO:0001823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sick sinus syndrome", "equivalent_identifiers": ["MONDO:0001823", "DOID:13884", "UMLS:C0037052", "MESH:D012804", "MEDDRA:10040639", "MEDDRA:10042845", "NCIT:C62244", "SNOMEDCT:36083008", "medgen:20749", "icd11.foundation:1682594333", "ICD10:I49.5", "HP:0011704"], "information_content": 87.2}
{"id": "MONDO:0002869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart valve disorder", "equivalent_identifiers": ["MONDO:0002869", "DOID:4079", "EFO:0009551", "UMLS:C0018824", "UMLS:C0079485", "UMLS:C0241654", "MESH:D006349", "MESH:D016127", "MEDDRA:10019316", "MEDDRA:10046972", "MEDDRA:10046973", "MEDDRA:10057103", "MEDDRA:10061406", "NCIT:C45525", "SNOMEDCT:368009", "SNOMEDCT:398995000", "medgen:5463", "HP:0001654"], "information_content": 64.4}
{"id": "MONDO:0010979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Timothy syndrome", "equivalent_identifiers": ["MONDO:0010979", "DOID:0060173", "OMIM:601005", "orphanet:65283", "UMLS:C1832916", "MESH:C536962", "MEDDRA:10079205", "NCIT:C142894", "SNOMEDCT:1230096008", "medgen:331395", "ICD10:G72.3"], "information_content": 89.4}
{"id": "DOID:9007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sudden infant death syndrome", "equivalent_identifiers": ["DOID:9007", "OMIM:272120", "EFO:0005303", "UMLS:C0038644", "MESH:D013398", "MEDDRA:10011220", "MEDDRA:10011910", "MEDDRA:10040666", "MEDDRA:10040667", "MEDDRA:10042439", "MEDDRA:10042440", "MEDDRA:10069606", "NCIT:C85173", "SNOMEDCT:51178009", "ICD9:798.0"], "information_content": 100.0}
{"id": "MONDO:0010281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Danon disease", "equivalent_identifiers": ["MONDO:0010281", "DOID:0050437", "OMIM:300257", "orphanet:34587", "EFO:1001333", "UMLS:C0878677", "MESH:D052120", "MEDDRA:10071756", "NCIT:C84735", "SNOMEDCT:419097006", "medgen:209235", "icd11.foundation:1233188442"], "information_content": 100.0}
{"id": "MONDO:0010958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac arrhythmia, ankyrin-B-related", "equivalent_identifiers": ["MONDO:0010958", "DOID:0111700", "DOID:0111701", "OMIM:600919", "UMLS:C1970119", "MESH:C566996", "SNOMEDCT:764457005", "medgen:370181"], "information_content": 100.0}
{"id": "MONDO:0009349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cyclocephaly", "equivalent_identifiers": ["MONDO:0009349", "DOID:0110881", "OMIM:236100", "UMLS:C0266667", "MESH:C562573", "MEDDRA:10057648", "NCIT:C124522", "NCIT:C75476", "SNOMEDCT:205798005", "medgen:78617", "HP:0009914"], "information_content": 100.0}
{"id": "MONDO:0008685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolff-Parkinson-White syndrome", "equivalent_identifiers": ["MONDO:0008685", "DOID:384", "OMIM:194200", "EFO:1001450", "UMLS:C0032915", "UMLS:C0043202", "UMLS:C0264897", "UMLS:C0392470", "MESH:D011226", "MESH:D014927", "MESH:D058606", "MEDDRA:10002611", "MEDDRA:10048015", "MEDDRA:10048041", "MEDDRA:10049291", "MEDDRA:10057634", "NCIT:C34940", "NCIT:C35132", "SNOMEDCT:16797001", "SNOMEDCT:17869006", "SNOMEDCT:74390002", "medgen:12162", "icd11.foundation:1091030330", "ICD9:426.7", "HP:0001716"], "information_content": 95.4}
{"id": "MONDO:0002406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatitis", "equivalent_identifiers": ["MONDO:0002406", "DOID:2723", "UMLS:C0013595", "MESH:D003872", "MESH:D004485", "MEDDRA:10012454", "MEDDRA:10014184", "MEDDRA:10014200", "MEDDRA:10014206", "MEDDRA:10014209", "MEDDRA:10087879", "MEDDRA:10087884", "NCIT:C2983", "SNOMEDCT:281104002", "SNOMEDCT:43116000", "medgen:849741", "ICD10:L30.9", "HP:0000964"], "information_content": 63.9}
{"id": "UniProtKB:Q9Y548-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein YIPF1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y548-1", "PR:Q9Y548-1", "ENSEMBL:ENSP00000072644", "ENSEMBL:ENSP00000072644.1", "ENSEMBL:ENSP00000432266", "ENSEMBL:ENSP00000432266.1"], "information_content": 100.0}
{"id": "MONDO:0004323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muscle Atrophy", "equivalent_identifiers": ["MONDO:0004323", "DOID:767", "UMLS:C0026846", "UMLS:C0234958", "UMLS:C0270948", "UMLS:C0541794", "UMLS:C1843479", "MESH:D009133", "MEDDRA:10002027", "MEDDRA:10002028", "MEDDRA:10003703", "MEDDRA:10003718", "MEDDRA:10012149", "MEDDRA:10028289", "MEDDRA:10028298", "MEDDRA:10028348", "NCIT:C94834", "SNOMEDCT:74035001", "SNOMEDCT:88092000", "medgen:892680", "HP:0003202"], "information_content": 75.7}
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{"id": "MONDO:0010645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocerebrorenal syndrome", "equivalent_identifiers": ["MONDO:0010645", "DOID:1056", "OMIM:309000", "orphanet:534", "UMLS:C0028860", "UMLS:C2713392", "MESH:D009800", "MEDDRA:10051707", "MEDDRA:10051754", "NCIT:C84940", "SNOMEDCT:79385002", "medgen:18145", "icd11.foundation:1392767390", "ICD10:E72.03"], "information_content": 100.0}
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{"id": "MONDO:0009412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scurvy", "equivalent_identifiers": ["MONDO:0009412", "DOID:13577", "DOID:13724", "OMIM:240400", "EFO:1000822", "EFO:1001169", "UMLS:C0003969", "UMLS:C0036474", "UMLS:C1855867", "UMLS:C5574898", "UMLS:C5887116", "MESH:C565486", "MESH:D001206", "MESH:D012614", "MEDDRA:10003454", "MEDDRA:10039768", "MEDDRA:10047623", "NCIT:C35010", "SNOMEDCT:76169001", "medgen:20684", "icd11.foundation:708602629", "ICD10:E54", "HP:0100510"], "information_content": 100.0}
{"id": "MONDO:0005489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyslexia", "equivalent_identifiers": ["MONDO:0005489", "DOID:4428", "EFO:0005424", "MESH:D004410", "NCIT:C96410", "medgen:96906", "icd11.foundation:1843588689", "ICD10:F81.0"], "information_content": 84.8}
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{"id": "NCBIGene:55359", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STYK1", "equivalent_identifiers": ["NCBIGene:55359", "ENSEMBL:ENSG00000060140", "HGNC:18889", "OMIM:611433", "UMLS:C1539889", "UniProtKB:Q6J9G0", "PR:Q6J9G0", "ENSEMBL:ENSP00000075503", "ENSEMBL:ENSP00000075503.3", "UMLS:C1435459", "MESH:C482299"], "information_content": 100.0}
{"id": "NCBIGene:2767", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNA11", "equivalent_identifiers": ["NCBIGene:2767", "ENSEMBL:ENSG00000088256", "HGNC:4379", "OMIM:139313", "UMLS:C1415138", "UniProtKB:P29992", "PR:P29992", "ENSEMBL:ENSP00000078429", "ENSEMBL:ENSP00000078429.3", "UMLS:C2975447", "UMLS:C2983090", "MESH:C554062"], "information_content": 95.4}
{"id": "MONDO:0005872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nervous system cancer", "equivalent_identifiers": ["MONDO:0005872", "DOID:3093", "EFO:0007392", "UMLS:C0027665", "UMLS:C0153643", "UMLS:C0497549", "UMLS:C1334956", "MESH:D009380", "MESH:D009423", "MEDDRA:10026175", "MEDDRA:10026656", "MEDDRA:10061268", "NCIT:C35562", "NCIT:C4788", "SNOMEDCT:372063002", "medgen:99231", "ICD9:192.9", "HP:0030060"], "information_content": 55.0}
{"id": "MONDO:0002898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin cancer", "equivalent_identifiers": ["MONDO:0002898", "DOID:4159", "UMLS:C0007114", "MEDDRA:10007115", "MEDDRA:10026693", "MEDDRA:10040808", "MEDDRA:10040890", "MEDDRA:10040895", "MEDDRA:10040896", "MEDDRA:10040900", "NCIT:C2920", "SNOMEDCT:372130007", "medgen:40101"], "information_content": 59.6}
{"id": "MONDO:0018543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant hypocalcemia", "equivalent_identifiers": ["MONDO:0018543", "DOID:0090109", "OMIM.PS:601198", "orphanet:428", "UMLS:C4048195", "NCIT:C123261", "SNOMEDCT:711152006", "medgen:884527", "ICD10:E20.8"], "information_content": 92.8}
{"id": "MONDO:0008501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sturge-Weber syndrome", "equivalent_identifiers": ["MONDO:0008501", "DOID:0111563", "DOID:3852", "OMIM:175200", "OMIM:185300", "orphanet:3205", "UMLS:C0031269", "UMLS:C0038505", "UMLS:C0265323", "MESH:D010580", "MESH:D013341", "MEDDRA:10034764", "MEDDRA:10042265", "MEDDRA:10057349", "MEDDRA:10057653", "MEDDRA:10057661", "NCIT:C3324", "NCIT:C3391", "NCIT:C7755", "SNOMEDCT:19886006", "SNOMEDCT:53633000", "SNOMEDCT:54411001", "medgen:21361", "icd11.foundation:1173035836", "ICD10:Q85.89"], "information_content": 82.6}
{"id": "MONDO:0016746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meningeal melanocytoma", "equivalent_identifiers": ["MONDO:0016746", "DOID:5900", "orphanet:252046", "EFO:1000370", "UMLS:C1266113", "NCIT:C4662", "SNOMEDCT:128730009", "SNOMEDCT:277527003", "medgen:226842"], "information_content": 100.0}
{"id": "MONDO:0007864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioosteohypertrophic syndrome", "equivalent_identifiers": ["MONDO:0007864", "DOID:2926", "OMIM:149000", "orphanet:2346", "orphanet:90308", "UMLS:C0022739", "UMLS:C5848351", "MESH:D007715", "MEDDRA:10051452", "MEDDRA:10056915", "NCIT:C84801", "SNOMEDCT:721105004", "SNOMEDCT:723991007", "medgen:9646", "icd11.foundation:1561120378"], "information_content": 100.0}
{"id": "MONDO:0002095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vascular cancer", "equivalent_identifiers": ["MONDO:0002095", "DOID:175", "orphanet:673466", "EFO:0003967", "UMLS:C0346845", "UMLS:C1290407", "UMLS:C1334616", "UMLS:C1334617", "UMLS:C1334630", "UMLS:C1335753", "UMLS:C1458139", "MESH:D009383", "NCIT:C5348", "NCIT:C5380", "NCIT:C5383", "NCIT:C5388", "NCIT:C7390", "NCIT:C8538", "SNOMEDCT:1254956005", "SNOMEDCT:1254957001", "SNOMEDCT:126737003", "SNOMEDCT:93817006", "medgen:264315"], "information_content": 67.3}
{"id": "MONDO:0006582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mongolian spot", "equivalent_identifiers": ["MONDO:0006582", "DOID:4702", "EFO:1000736", "UMLS:C0265985", "MESH:D049328", "MEDDRA:10027815", "NCIT:C3945", "SNOMEDCT:40467008", "medgen:75591", "HP:0011369"], "information_content": 100.0}
{"id": "MONDO:0008093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermal nevus", "equivalent_identifiers": ["MONDO:0008093", "DOID:0111162", "OMIM:162900", "EFO:0000625", "UMLS:C0334082", "UMLS:C4011754", "MESH:C580062", "MEDDRA:10014985", "MEDDRA:10062792", "NCIT:C4088", "SNOMEDCT:239107007", "SNOMEDCT:25201003", "medgen:83106", "HP:0010816"], "information_content": 89.4}
{"id": "MONDO:0000328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperphosphatemia", "equivalent_identifiers": ["MONDO:0000328", "DOID:0050459", "UMLS:C0085681", "UMLS:C0553706", "MESH:D054559", "MEDDRA:10020711", "MEDDRA:10020712", "MEDDRA:10040371", "NCIT:C113750", "SNOMEDCT:20165001", "medgen:39326", "icd11.foundation:1745515193", "HP:0002905"], "information_content": 83.6}
{"id": "MONDO:0018919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "McCune-Albright syndrome", "equivalent_identifiers": ["MONDO:0018919", "DOID:1858", "OMIM:174800", "orphanet:562", "UMLS:C0242292", "MEDDRA:10051698", "MEDDRA:10052032", "NCIT:C48627", "SNOMEDCT:726029005", "medgen:69164", "icd11.foundation:132749439", "ICD10:Q78.1", "ICD9:756.54"], "information_content": 92.8}
{"id": "MONDO:0010302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ito hypomelanosis", "equivalent_identifiers": ["MONDO:0010302", "DOID:3156", "OMIM:300337", "UMLS:C0022283", "MEDDRA:10075301", "MEDDRA:10075302", "SNOMEDCT:218358001", "SNOMEDCT:48543002", "medgen:5920"], "information_content": 100.0}
{"id": "MONDO:0044792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "large congenital melanocytic nevus", "equivalent_identifiers": ["MONDO:0044792", "DOID:0111359", "OMIM:137550", "orphanet:626", "UMLS:C1318558", "UMLS:C1842036", "MESH:C536819", "MEDDRA:10072036", "MEDDRA:10072037", "NCIT:C3944", "NCIT:C4234", "SNOMEDCT:10291008", "SNOMEDCT:1260467009", "SNOMEDCT:254815002", "SNOMEDCT:398696001", "SNOMEDCT:398943008", "SNOMEDCT:400151006", "medgen:330752", "icd11.foundation:618273329", "HP:0005600"], "information_content": 85.5}
{"id": "MONDO:0002205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvar melanoma", "equivalent_identifiers": ["MONDO:0002205", "DOID:2093", "UMLS:C0241989", "NCIT:C40329", "SNOMEDCT:254896002", "medgen:66040", "HP:0030418"], "information_content": 100.0}
{"id": "MONDO:0019992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoparathyroidism", "equivalent_identifiers": ["MONDO:0019992", "DOID:4184", "orphanet:97593", "UMLS:C0033806", "MESH:D011547", "MEDDRA:10037126", "NCIT:C99027", "SNOMEDCT:58976002", "medgen:46178", "icd11.foundation:1225154856", "ICD10:E20.1", "HP:0000852"], "information_content": 88.2}
{"id": "MONDO:0007540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple endocrine neoplasia type 1", "equivalent_identifiers": ["MONDO:0007540", "DOID:10017", "OMIM:131100", "UMLS:C0025267", "UMLS:C3149237", "MESH:D018761", "MEDDRA:10026979", "MEDDRA:10027180", "MEDDRA:10028190", "MEDDRA:10028194", "MEDDRA:10073150", "NCIT:C3225", "SNOMEDCT:30664006", "ICD10:E31.21", "ICD9:258.01"], "information_content": 88.2}
{"id": "MONDO:0008318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proteus syndrome", "equivalent_identifiers": ["MONDO:0008318", "DOID:13482", "OMIM:176920", "orphanet:744", "UMLS:C0085261", "UMLS:C1867610", "MESH:C537716", "MESH:D016715", "MEDDRA:10074067", "NCIT:C85032", "SNOMEDCT:23150001", "medgen:39008", "icd11.foundation:760267333"], "information_content": 95.4}
{"id": "MONDO:0002108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid cancer", "equivalent_identifiers": ["MONDO:0002108", "DOID:1781", "UMLS:C0007115", "MEDDRA:10026535", "MEDDRA:10043738", "MEDDRA:10043745", "MEDDRA:10043749", "MEDDRA:10066474", "NCIT:C7510", "SNOMEDCT:363478007", "medgen:2869", "ICD10:C73", "ICD9:193", "KEGG.DISEASE:05216"], "information_content": 62.7}
{"id": "MONDO:0013038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CLOVES syndrome", "equivalent_identifiers": ["MONDO:0013038", "DOID:0080351", "OMIM:612918", "orphanet:140944", "UMLS:C2752042", "MESH:C567863", "MEDDRA:10083945", "NCIT:C177122", "SNOMEDCT:719475006", "medgen:442876"], "information_content": 100.0}
{"id": "MONDO:0000637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "musculoskeletal system cancer", "equivalent_identifiers": ["MONDO:0000637", "DOID:0060100", "UMLS:C0036210", "MEDDRA:10077675", "NCIT:C166357", "medgen:1714562"], "information_content": 60.0}
{"id": "MONDO:0011719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Plexosarcoma", "equivalent_identifiers": ["MONDO:0011719", "DOID:9253", "OMIM:606764", "orphanet:44890", "UMLS:C0238198", "UMLS:C1704399", "UMLS:C2931518", "UMLS:C3179349", "MESH:C537517", "MESH:D046152", "MEDDRA:10051066", "MEDDRA:10062427", "MEDDRA:10091282", "MEDDRA:10091288", "NCIT:C27940", "NCIT:C3868", "NCIT:C53999", "NCIT:C54000", "SNOMEDCT:1187383001", "SNOMEDCT:128755003", "SNOMEDCT:128756002", "SNOMEDCT:420120006", "medgen:116049", "ICD10:C49.A", "HP:0100723"], "information_content": 72.4}
{"id": "MONDO:0002299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glomangioma", "equivalent_identifiers": ["MONDO:0002299", "DOID:2436", "UMLS:C0334421", "NCIT:C4222", "SNOMEDCT:1293123009", "SNOMEDCT:7429002", "medgen:87239"], "information_content": 90.9}
{"id": "UniProtKB:Q68CJ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic AMP-responsive element-binding protein 3-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68CJ9-1", "PR:Q68CJ9-1", "ENSEMBL:ENSP00000078445", "ENSEMBL:ENSP00000078445.1"], "information_content": 100.0}
{"id": "MONDO:0009192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolcott-Rallison syndrome", "equivalent_identifiers": ["MONDO:0009192", "DOID:0090060", "OMIM:226980", "orphanet:1667", "UMLS:C0432217", "MESH:C536739", "MEDDRA:10090582", "NCIT:C131007", "SNOMEDCT:254066006", "medgen:140926", "icd11.foundation:2096915129", "ICD10:E13"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUI4-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone deacetylase 7 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUI4-5", "PR:Q8WUI4-5", "ENSEMBL:ENSP00000080059", "ENSEMBL:ENSP00000080059.7"], "information_content": 100.0}
{"id": "NCBIGene:10513", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APPBP2", "equivalent_identifiers": ["NCBIGene:10513", "ENSEMBL:ENSG00000062725", "HGNC:622", "OMIM:605324", "UMLS:C1332104", "UniProtKB:Q92624", "PR:Q92624", "ENSEMBL:ENSP00000083182", "ENSEMBL:ENSP00000083182.3", "UMLS:C1332256", "UMLS:C5772981", "MESH:C000723782"], "information_content": 87.2}
{"id": "MONDO:0013238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 17q23.1-q23.2 deletion syndrome", "equivalent_identifiers": ["MONDO:0013238", "DOID:0060405", "OMIM:613355", "orphanet:261279", "UMLS:C3150607", "UMLS:C4304591", "SNOMEDCT:719584008", "medgen:461957"], "information_content": 100.0}
{"id": "NCBIGene:770", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CA11", "equivalent_identifiers": ["NCBIGene:770", "ENSEMBL:ENSG00000063180", "HGNC:1370", "OMIM:604644", "UMLS:C1413040", "UniProtKB:O75493", "PR:O75493", "ENSEMBL:ENSP00000084798", "ENSEMBL:ENSP00000084798.3", "UMLS:C1447096", "MESH:C512817"], "information_content": 95.4}
{"id": "UniProtKB:P20273-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-cell receptor CD22 isoform hCD22-beta (human)", "equivalent_identifiers": ["UniProtKB:P20273-1", "PR:P20273-1", "ENSEMBL:ENSP00000085219", "ENSEMBL:ENSP00000085219.4"], "information_content": 100.0}
{"id": "MONDO:0001067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early yaws", "equivalent_identifiers": ["MONDO:0001067", "DOID:10568", "UMLS:C0275990", "UMLS:C0275998", "UMLS:C0343834", "MEDDRA:10022036", "NCIT:C41352", "SNOMEDCT:23191004", "SNOMEDCT:266147005", "SNOMEDCT:30283007", "SNOMEDCT:49442000", "medgen:124440", "ICD10:A66.0", "ICD10:A66.6", "ICD9:102.0", "ICD9:102.6"], "information_content": 100.0}
{"id": "NCBIGene:2928", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSC2", "equivalent_identifiers": ["NCBIGene:2928", "ENSEMBL:ENSG00000063515", "HGNC:4613", "OMIM:601845", "UMLS:C1415317", "UniProtKB:O15499", "PR:O15499", "ENSEMBL:ENSP00000086933", "ENSEMBL:ENSP00000086933.2"], "information_content": 100.0}
{"id": "MONDO:0008644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "velocardiofacial syndrome", "equivalent_identifiers": ["MONDO:0008644", "DOID:12583", "OMIM:192430", "UMLS:C0220704", "MEDDRA:10066430", "medgen:65085", "ICD10:Q93.81", "ICD9:758.32"], "information_content": 100.0}
{"id": "MONDO:0001657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain cancer", "equivalent_identifiers": ["MONDO:0001657", "DOID:1319", "UMLS:C0153633", "UMLS:C0220624", "UMLS:C0750979", "UMLS:C1334557", "MESH:D001932", "MEDDRA:10006131", "MEDDRA:10025539", "MEDDRA:10025783", "MEDDRA:10025785", "NCIT:C3568", "NCIT:C5115", "NCIT:C7710", "SNOMEDCT:428061005", "SNOMEDCT:93727008", "medgen:57796", "ICD10:C71", "ICD9:191", "ICD9:239.6"], "information_content": 64.1}
{"id": "UniProtKB:P08048-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger Y-chromosomal protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08048-1", "PR:P08048-1", "ENSEMBL:ENSP00000155093", "ENSEMBL:ENSP00000155093.3", "ENSEMBL:ENSP00000372525", "ENSEMBL:ENSP00000372525.1"], "information_content": 100.0}
{"id": "MONDO:0019499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Turner syndrome", "equivalent_identifiers": ["MONDO:0019499", "DOID:3491", "orphanet:881", "UMLS:C0041408", "MESH:D014424", "MEDDRA:10045181", "MEDDRA:10048226", "NCIT:C26900", "NCIT:C85210", "SNOMEDCT:38804009", "medgen:21734", "icd11.foundation:1987089698", "ICD10:Q96"], "information_content": 89.4}
{"id": "MONDO:0010768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gonadoblastoma", "equivalent_identifiers": ["MONDO:0010768", "DOID:3301", "UMLS:C0206661", "MESH:D018238", "MEDDRA:10018506", "NCIT:C3754", "SNOMEDCT:1162858007", "SNOMEDCT:74751003", "medgen:104912", "HP:0000150"], "information_content": 88.2}
{"id": "MONDO:0006762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "freemartinism", "equivalent_identifiers": ["MONDO:0006762", "DOID:4671", "EFO:1000939", "UMLS:C0016697", "MESH:D005611"], "information_content": 100.0}
{"id": "MONDO:0001969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mixed gonadal dysgenesis", "equivalent_identifiers": ["MONDO:0001969", "DOID:14449", "UMLS:C0018055", "MESH:D006060", "SNOMEDCT:83579008", "medgen:6654"], "information_content": 100.0}
{"id": "MONDO:0100249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XX testicular disorder of sex development", "equivalent_identifiers": ["MONDO:0100249", "DOID:0111760", "orphanet:393", "UMLS:C2936419", "MESH:D058531", "MEDDRA:10087158", "NCIT:C127170", "SNOMEDCT:890089005", "medgen:424734", "icd11.foundation:1357942532"], "information_content": 89.4}
{"id": "MONDO:0018071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 18", "equivalent_identifiers": ["MONDO:0018071", "DOID:1085", "orphanet:3380", "UMLS:C4317091", "MESH:C580500", "MESH:D000073842", "MEDDRA:10053884", "SNOMEDCT:51500006", "medgen:1384417", "icd11.foundation:1505179968", "ICD9:758.2"], "information_content": 92.8}
{"id": "MONDO:0010765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Swyer Syndrome", "equivalent_identifiers": ["MONDO:0010765", "DOID:14448", "OMIM.PS:400044", "orphanet:242", "UMLS:C0018054", "UMLS:C2936694", "MESH:D006061", "MEDDRA:10084327", "NCIT:C120198", "SNOMEDCT:95218005", "medgen:445380", "HP:0008668"], "information_content": 83.1}
{"id": "MONDO:0001571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gynecomastia", "equivalent_identifiers": ["MONDO:0001571", "DOID:12698", "UMLS:C0018418", "MESH:D006177", "MEDDRA:10006244", "MEDDRA:10014844", "MEDDRA:10018800", "MEDDRA:10018801", "NCIT:C3073", "SNOMEDCT:4754008", "medgen:6694", "HP:0000771"], "information_content": 83.6}
{"id": "MONDO:0005518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohermaphroditism", "equivalent_identifiers": ["MONDO:0005518", "DOID:3765", "EFO:0005579", "UMLS:C0021193", "UMLS:C0033804", "MEDDRA:10037122", "MEDDRA:10037125", "NCIT:C124575", "SNOMEDCT:75164001", "medgen:10991", "ICD10:Q56", "ICD10:Q56.3", "ICD9:752.7"], "information_content": 95.4}
{"id": "UniProtKB:P51787-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium voltage-gated channel subfamily KQT member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P51787-1", "PR:P51787-1", "ENSEMBL:ENSP00000155840", "ENSEMBL:ENSP00000155840.2"], "information_content": 100.0}
{"id": "MONDO:0009965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perlman syndrome", "equivalent_identifiers": ["MONDO:0009965", "DOID:0060476", "DOID:5572", "OMIM:130650", "OMIM:267000", "orphanet:2849", "UMLS:C0004903", "UMLS:C0796113", "UMLS:C1851719", "MESH:C536399", "MESH:D001506", "MEDDRA:10050344", "MEDDRA:10088870", "NCIT:C103144", "NCIT:C34415", "SNOMEDCT:722231005", "SNOMEDCT:81780002", "medgen:162909", "icd11.foundation:795682441", "ICD10:Q87.3"], "information_content": 78.5}
{"id": "MONDO:0008394", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Silver-Russell syndrome", "equivalent_identifiers": ["MONDO:0008394", "DOID:14681", "OMIM.PS:180860", "orphanet:813", "UMLS:C0175693", "MESH:D056730", "MEDDRA:10062282", "NCIT:C85068", "SNOMEDCT:15069006", "medgen:104492", "icd11.foundation:735297495"], "information_content": 83.6}
{"id": "MONDO:0007113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angelman syndrome", "equivalent_identifiers": ["MONDO:0007113", "DOID:1932", "OMIM:105830", "orphanet:72", "UMLS:C0162635", "UMLS:C2930801", "UMLS:C5574895", "MESH:C531619", "MESH:D017204", "MEDDRA:10049004", "MEDDRA:10052652", "NCIT:C75462", "SNOMEDCT:76880004", "medgen:58144", "icd11.foundation:1106558408", "ICD10:Q93.51"], "information_content": 89.4}
{"id": "MONDO:0019015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "omphalocele", "equivalent_identifiers": ["MONDO:0019015", "DOID:0060327", "orphanet:660", "UMLS:C0795690", "MEDDRA:10030308", "MEDDRA:10030309", "NCIT:C98997", "SNOMEDCT:18735004", "medgen:162756", "icd11.foundation:1168696429", "HP:0001539"], "information_content": 92.8}
{"id": "MONDO:0007893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome with multiple lentigines", "equivalent_identifiers": ["MONDO:0007893", "DOID:14291", "OMIM.PS:151100", "orphanet:500", "UMLS:C0175704", "MESH:D044542", "MEDDRA:10057210", "MEDDRA:10062901", "NCIT:C84820", "SNOMEDCT:111306001", "medgen:104494"], "information_content": 90.9}
{"id": "MONDO:0008300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prader-Willi syndrome", "equivalent_identifiers": ["MONDO:0008300", "DOID:11983", "OMIM:176270", "orphanet:739", "UMLS:C0032897", "UMLS:C1867858", "UMLS:C1867859", "MESH:C566764", "MESH:D011218", "MEDDRA:10036476", "NCIT:C75463", "SNOMEDCT:89392001", "medgen:46057", "icd11.foundation:393773440", "ICD10:Q87.11", "ICD9:759.81"], "information_content": 86.3}
{"id": "MONDO:0013873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IMAGe syndrome", "equivalent_identifiers": ["MONDO:0013873", "DOID:0050885", "OMIM:614732", "orphanet:85173", "UMLS:C1846009", "MESH:C564543", "NCIT:C130988", "SNOMEDCT:702384004", "medgen:337364", "icd11.foundation:1064803315"], "information_content": 100.0}
{"id": "MONDO:0008223", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypokalemic periodic paralysis", "equivalent_identifiers": ["MONDO:0008223", "DOID:14452", "orphanet:681", "UMLS:C0238358", "MESH:D020514", "MEDDRA:10075234", "MEDDRA:10075238", "NCIT:C84775", "SNOMEDCT:82732003", "medgen:116058", "icd11.foundation:1494773635"], "information_content": 92.8}
{"id": "MONDO:0016779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple congenital anomalies due to 14q32.2 maternally expressed gene defect", "equivalent_identifiers": ["MONDO:0016779", "DOID:0111712", "orphanet:254519", "UMLS:C5779872", "SNOMEDCT:770907002", "medgen:1830421"], "information_content": 90.9}
{"id": "MONDO:0006624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urinary Urgency", "equivalent_identifiers": ["MONDO:0006624", "DOID:0070355", "EFO:1000781", "UMLS:C0085606", "UMLS:C0878773", "UMLS:C3544092", "UMLS:C4020898", "MESH:D053201", "MEDDRA:10020853", "MEDDRA:10020861", "MEDDRA:10027566", "MEDDRA:10046496", "MEDDRA:10046497", "MEDDRA:10046593", "MEDDRA:10046604", "MEDDRA:10058970", "MEDDRA:10059617", "MEDDRA:10073537", "NCIT:C200787", "NCIT:C50792", "SNOMEDCT:236633002", "SNOMEDCT:75088002", "SNOMEDCT:786457000", "medgen:168058", "icd11.foundation:1118102209", "ICD10:N32.81", "ICD9:596.51", "HP:0000012"], "information_content": 100.0}
{"id": "NCBIGene:28951", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIB2", "equivalent_identifiers": ["NCBIGene:28951", "ENSEMBL:ENSG00000071575", "HGNC:30809", "OMIM:609462", "UMLS:C1540054", "UniProtKB:Q92519", "PR:Q92519", "ENSEMBL:ENSP00000155926", "ENSEMBL:ENSP00000155926.4", "UMLS:C1505885", "UMLS:C3541919", "MESH:C489044"], "information_content": 95.4}
{"id": "MONDO:0021107", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "narcolepsy", "equivalent_identifiers": ["MONDO:0021107", "DOID:8986", "orphanet:619284", "UMLS:C0027404", "MESH:D009290", "MEDDRA:10028713", "NCIT:C84489", "SNOMEDCT:60380001", "medgen:45001", "icd11.foundation:1201727099", "ICD10:G47.41", "ICD9:347.0", "HP:0030050"], "information_content": 83.1}
{"id": "UniProtKB:Q96G74-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "OTU domain-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96G74-1", "PR:Q96G74-1", "ENSEMBL:ENSP00000156084", "ENSEMBL:ENSP00000156084.4", "ENSEMBL:ENSP00000518041", "ENSEMBL:ENSP00000518041.1"], "information_content": 100.0}
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{"id": "MONDO:0000451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary progressive multiple sclerosis", "equivalent_identifiers": ["MONDO:0000451", "DOID:0050784", "EFO:0008520", "UMLS:C0751964", "MEDDRA:10063401", "SNOMEDCT:428700003", "medgen:155968", "icd11.foundation:1020720762"], "information_content": 100.0}
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{"id": "MONDO:0018949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal myopathy", "equivalent_identifiers": ["MONDO:0018949", "DOID:11720", "OMIM.PS:160500", "orphanet:599", "UMLS:C0751336", "MESH:D049310", "NCIT:C84675", "SNOMEDCT:58795000", "medgen:155541", "icd11.foundation:596283352"], "information_content": 77.3}
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{"id": "MONDO:0006683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachial plexus neuropathy", "equivalent_identifiers": ["MONDO:0006683", "DOID:3690", "EFO:1000844", "UMLS:C0700251", "MESH:D020516", "MEDDRA:10065417", "NCIT:C27194", "SNOMEDCT:3548001", "medgen:148580", "HP:0045054"], "information_content": 83.6}
{"id": "MONDO:0015564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Castleman disease", "equivalent_identifiers": ["MONDO:0015564", "DOID:0111157", "orphanet:160", "EFO:1001332", "UMLS:C0017531", "UMLS:C2931179", "MESH:C536362", "MESH:D005871", "MEDDRA:10050251", "NCIT:C3056", "SNOMEDCT:207036003", "SNOMEDCT:238809002", "SNOMEDCT:781094002", "medgen:42211", "icd11.foundation:1940989685", "ICD10:D47.Z2"], "information_content": 80.6}
{"id": "MONDO:0019149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholesteryl ester storage disease", "equivalent_identifiers": ["MONDO:0019149", "DOID:14502", "OMIM:278000", "orphanet:75234", "UMLS:C0008384", "MESH:D015217", "MEDDRA:10077268", "SNOMEDCT:57218003", "medgen:40266", "icd11.foundation:894336362"], "information_content": 100.0}
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{"id": "NCBIGene:51412", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTL6B", "equivalent_identifiers": ["NCBIGene:51412", "ENSEMBL:ENSG00000077080", "HGNC:160", "OMIM:612458", "UMLS:C1538908", "UniProtKB:O94805", "PR:O94805", "ENSEMBL:ENSP00000160382", "ENSEMBL:ENSP00000160382.5", "UMLS:C1171841", "UMLS:C4761501", "MESH:C467332"], "information_content": 95.4}
{"id": "MONDO:0011053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-sparse hair-brachydactyly syndrome", "equivalent_identifiers": ["MONDO:0011053", "DOID:0081441", "OMIM:601358", "orphanet:3051", "UMLS:C1303073", "MESH:C536116", "SNOMEDCT:401046009", "medgen:220983"], "information_content": 100.0}
{"id": "MONDO:0017579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Baraitser-Winter cerebrofrontofacial syndrome", "equivalent_identifiers": ["MONDO:0017579", "DOID:0060229", "OMIM.PS:243310", "orphanet:2995", "UMLS:C1853623", "MESH:C565258", "SNOMEDCT:702410002", "medgen:340016"], "information_content": 92.8}
{"id": "UniProtKB:Q14807-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14807-1", "PR:Q14807-1", "ENSEMBL:ENSP00000160827", "ENSEMBL:ENSP00000160827.5"], "information_content": 100.0}
{"id": "UniProtKB:P13688-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell adhesion molecule CEACAM1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13688-1", "PR:P13688-1", "ENSEMBL:ENSP00000161559", "ENSEMBL:ENSP00000161559.6"], "information_content": 100.0}
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{"id": "MONDO:0002602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CNS disorder", "equivalent_identifiers": ["MONDO:0002602", "DOID:331", "EFO:0009386", "UMLS:C0007682", "UMLS:C4021765", "MESH:D002493", "MEDDRA:10007943", "MEDDRA:10007944", "MEDDRA:10013202", "MEDDRA:10029204", "NCIT:C2934", "SNOMEDCT:23853001", "medgen:892343", "ICD10:G96.9", "HP:0002011"], "information_content": 46.5}
{"id": "UniProtKB:Q9P0K8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein J2 isoform hFOXJ2.L (human)", "equivalent_identifiers": ["UniProtKB:Q9P0K8-1", "PR:Q9P0K8-1", "ENSEMBL:ENSP00000162391", "ENSEMBL:ENSP00000162391.3"], "information_content": 100.0}
{"id": "UniProtKB:P19438-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 1A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P19438-1", "PR:P19438-1", "ENSEMBL:ENSP00000162749", "ENSEMBL:ENSP00000162749.2"], "information_content": 100.0}
{"id": "MONDO:0007727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TNF receptor 1-associated periodic fever syndrome", "equivalent_identifiers": ["MONDO:0007727", "DOID:0090018", "OMIM:142680", "orphanet:32960", "UMLS:C1275126", "UMLS:C3889136", "MESH:C536657", "MEDDRA:10067774", "MEDDRA:10067783", "NCIT:C119051", "SNOMEDCT:403833009", "medgen:226899", "icd11.foundation:1869883509", "ICD10:E85.0"], "information_content": 100.0}
{"id": "MONDO:0012481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mevalonic aciduria", "equivalent_identifiers": ["MONDO:0012481", "DOID:0050452", "OMIM:610377", "orphanet:29", "UMLS:C1959626", "MEDDRA:10072219", "NCIT:C84890", "SNOMEDCT:718558008", "medgen:368373", "icd11.foundation:572875152", "ICD10:M04.1"], "information_content": 100.0}
{"id": "MONDO:0008633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muckle-Wells syndrome", "equivalent_identifiers": ["MONDO:0008633", "DOID:0050854", "OMIM:191900", "orphanet:575", "UMLS:C0268390", "UMLS:C1304205", "MEDDRA:10064569", "NCIT:C119054", "SNOMEDCT:15123008", "SNOMEDCT:402417009", "medgen:120634", "icd11.foundation:1983358487", "ICD10:M04.2"], "information_content": 100.0}
{"id": "MONDO:0009849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperimmunoglobulinemia D with periodic fever", "equivalent_identifiers": ["MONDO:0009849", "DOID:0081450", "OMIM:260920", "orphanet:343", "UMLS:C0398691", "MEDDRA:10072010", "MEDDRA:10072011", "SNOMEDCT:403834003", "medgen:140768"], "information_content": 100.0}
{"id": "MONDO:0018768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial cold autoinflammatory syndrome", "equivalent_identifiers": ["MONDO:0018768", "DOID:0090061", "OMIM.PS:120100", "orphanet:47045", "UMLS:C0343068", "MEDDRA:10064570", "MEDDRA:10064575", "MEDDRA:10071094", "NCIT:C119053", "medgen:137986", "icd11.foundation:1932140025", "ICD10:L50.2"], "information_content": 89.4}
{"id": "MONDO:0014912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive", "equivalent_identifiers": ["MONDO:0014912", "DOID:0080163", "OMIM:617099", "orphanet:500062", "UMLS:C4310614", "NCIT:C174441", "SNOMEDCT:765435009", "medgen:934581"], "information_content": 100.0}
{"id": "MONDO:0004845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aphthous stomatitis", "equivalent_identifiers": ["MONDO:0004845", "DOID:9663", "UMLS:C0038363", "UMLS:C1959869", "UMLS:C2937365", "MEDDRA:10002958", "MEDDRA:10002959", "MEDDRA:10007166", "MEDDRA:10030960", "MEDDRA:10042131", "MEDDRA:10045287", "MEDDRA:10045288", "MEDDRA:10045372", "MEDDRA:10066577", "MEDDRA:10067589", "MEDDRA:10084265", "SNOMEDCT:110426005", "SNOMEDCT:398870000", "SNOMEDCT:426965005", "SNOMEDCT:427617000", "SNOMEDCT:722781002", "medgen:20959", "ICD9:528.2", "HP:0011107"], "information_content": 83.6}
{"id": "MONDO:0011462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PAPA syndrome", "equivalent_identifiers": ["MONDO:0011462", "DOID:0080519", "OMIM:604416", "orphanet:69126", "UMLS:C1858361", "MESH:C536253", "MEDDRA:10072222", "MEDDRA:10072225", "NCIT:C119055", "SNOMEDCT:724015007", "medgen:346801"], "information_content": 100.0}
{"id": "MONDO:0018304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schnitzler syndrome", "equivalent_identifiers": ["MONDO:0018304", "DOID:4371", "orphanet:37748", "EFO:1001165", "UMLS:C0524988", "MESH:D019873", "MEDDRA:10062908", "SNOMEDCT:402415001", "medgen:141892", "icd11.foundation:1867840545"], "information_content": 100.0}
{"id": "MONDO:0009726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nakajo syndrome", "equivalent_identifiers": ["MONDO:0009726", "DOID:0050553", "DOID:0060913", "OMIM.PS:256040", "orphanet:324977", "UMLS:C1850568", "MESH:C538334", "MEDDRA:10087602", "SNOMEDCT:702449004", "medgen:376827"], "information_content": 87.2}
{"id": "MONDO:0800045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoinflammatory syndrome, familial, Behcet-like 1", "equivalent_identifiers": ["MONDO:0800045", "DOID:0080944", "OMIM:616744", "orphanet:674762", "EFO:0020034", "UMLS:C4225218", "medgen:898541"], "information_content": 100.0}
{"id": "UniProtKB:Q8TBA6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "golgin subfamily A member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBA6-1", "PR:Q8TBA6-1", "ENSEMBL:ENSP00000163416", "ENSEMBL:ENSP00000163416.2"], "information_content": 100.0}
{"id": "MONDO:0012290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CEDNIK syndrome", "equivalent_identifiers": ["MONDO:0012290", "DOID:0060337", "OMIM:609528", "orphanet:66631", "UMLS:C1836033", "MESH:C537943", "SNOMEDCT:722385008", "medgen:332113"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYQ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin EGF LAG seven-pass G-type receptor 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYQ7-1", "PR:Q9NYQ7-1", "ENSEMBL:ENSP00000164024", "ENSEMBL:ENSP00000164024.4"], "information_content": 100.0}
{"id": "MONDO:0007661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tourette syndrome", "equivalent_identifiers": ["MONDO:0007661", "DOID:11119", "OMIM:137580", "EFO:0004895", "UMLS:C0040517", "UMLS:C1392622", "MESH:C563241", "MESH:D005879", "MEDDRA:10018268", "MEDDRA:10018269", "MEDDRA:10018271", "MEDDRA:10018768", "MEDDRA:10042808", "MEDDRA:10044126", "MEDDRA:10044127", "NCIT:C35078", "SNOMEDCT:5158005", "medgen:21219", "icd11.foundation:119340957", "ICD10:F95.2", "ICD9:307.23"], "information_content": 90.9}
{"id": "MONDO:0001074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic tic disorder", "equivalent_identifiers": ["MONDO:0001074", "DOID:10600", "UMLS:C0008701", "MEDDRA:10068454", "MEDDRA:10076661", "NCIT:C116768", "medgen:40301", "ICD10:F95.1", "ICD9:307.22"], "information_content": 100.0}
{"id": "MONDO:0010805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bladder exstrophy", "equivalent_identifiers": ["MONDO:0010805", "DOID:0080174", "orphanet:93930", "UMLS:C0005689", "MESH:D001746", "MEDDRA:10010453", "MEDDRA:10014151", "MEDDRA:10015720", "MEDDRA:10048597", "NCIT:C123207", "SNOMEDCT:61758007", "medgen:2661", "icd11.foundation:1927556258", "ICD10:Q64.10", "ICD9:753.5", "HP:0002836"], "information_content": 95.4}
{"id": "MONDO:0009872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bjornstad syndrome", "equivalent_identifiers": ["MONDO:0009872", "DOID:0050677", "OMIM:262000", "orphanet:123", "UMLS:C0266006", "MESH:C537633", "SNOMEDCT:67817003", "medgen:82728"], "information_content": 100.0}
{"id": "MONDO:0002419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient tic disorder", "equivalent_identifiers": ["MONDO:0002419", "DOID:2768", "UMLS:C0040702", "NCIT:C116767", "SNOMEDCT:56573006", "medgen:52814", "ICD10:F95.0", "ICD9:307.21"], "information_content": 100.0}
{"id": "MONDO:0008114", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Compulsion", "equivalent_identifiers": ["MONDO:0008114", "DOID:10933", "OMIM:164230", "EFO:0004242", "UMLS:C0028768", "UMLS:C0600104", "MESH:D003192", "MESH:D009771", "MEDDRA:10010219", "MEDDRA:10029898", "MEDDRA:10029900", "MEDDRA:10029902", "MEDDRA:10037961", "NCIT:C88411", "NCIT:C94241", "SNOMEDCT:12479006", "SNOMEDCT:191736004", "medgen:14445", "icd11.foundation:1582741816", "ICD10:F42", "ICD9:300.3", "HP:0000722"], "information_content": 81.7}
{"id": "MONDO:0009774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cloacal exstrophy", "equivalent_identifiers": ["MONDO:0009774", "DOID:0080175", "orphanet:93929", "UMLS:C0345217", "MESH:C537748", "MESH:D000099005", "MEDDRA:10067424", "SNOMEDCT:20815007", "medgen:83377", "icd11.foundation:2004612103", "HP:0010475"], "information_content": 100.0}
{"id": "UniProtKB:Q15173-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform isoform hBeta-1 (human)", "equivalent_identifiers": ["UniProtKB:Q15173-1", "PR:Q15173-1", "ENSEMBL:ENSP00000164133", "ENSEMBL:ENSP00000164133.2"], "information_content": 100.0}
{"id": "UniProtKB:P11217-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycogen phosphorylase, muscle form isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P11217-1", "PR:P11217-1", "ENSEMBL:ENSP00000164139", "ENSEMBL:ENSP00000164139.3"], "information_content": 100.0}
{"id": "MONDO:0018493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant hyperthermia of anesthesia", "equivalent_identifiers": ["MONDO:0018493", "DOID:8545", "orphanet:423", "UMLS:C0024591", "UMLS:C5779784", "MESH:D008305", "MEDDRA:10016561", "MEDDRA:10020742", "MEDDRA:10020844", "MEDDRA:10025599", "MEDDRA:10025607", "NCIT:C84869", "SNOMEDCT:213026003", "SNOMEDCT:405501007", "medgen:9867", "ICD10:T88.3", "ICD9:995.86", "HP:0002047"], "information_content": 87.2}
{"id": "MONDO:0016103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HyperCKmia", "equivalent_identifiers": ["MONDO:0016103", "DOID:0111338", "orphanet:206599", "UMLS:C4724975", "UMLS:C4751434", "NCIT:C148327", "SNOMEDCT:773990006", "medgen:1668524"], "information_content": 100.0}
{"id": "MONDO:0005039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reproductive system disorder", "equivalent_identifiers": ["MONDO:0005039", "DOID:15", "EFO:0000512", "UMLS:C0178829", "UMLS:C1335037", "MEDDRA:10038610", "MEDDRA:10061483", "NCIT:C27613", "NCIT:C4875", "SNOMEDCT:362968007", "medgen:61253"], "information_content": 48.0}
{"id": "DOID:0040001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "shrimp allergy", "equivalent_identifiers": ["DOID:0040001"]}
{"id": "NCBIGene:602", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCL3", "equivalent_identifiers": ["NCBIGene:602", "ENSEMBL:ENSG00000069399", "HGNC:998", "OMIM:109560", "UMLS:C0812238", "UniProtKB:B7Z3N9", "UniProtKB:P20749", "PR:P20749", "ENSEMBL:ENSP00000164227", "ENSEMBL:ENSP00000164227.5", "UMLS:C1742121", "MESH:C000631344"], "information_content": 92.8}
{"id": "NCBIGene:9488", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIGB", "equivalent_identifiers": ["NCBIGene:9488", "ENSEMBL:ENSG00000069943", "HGNC:8959", "OMIM:604122", "UMLS:C1418560", "UniProtKB:Q92521", "PR:Q92521", "ENSEMBL:ENSP00000164305", "ENSEMBL:ENSP00000164305.5", "UMLS:C1307835", "MESH:C102168"], "information_content": 92.8}
{"id": "MONDO:0008715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofrontofacionasal dysostosis", "equivalent_identifiers": ["MONDO:0008715", "DOID:0060226", "orphanet:1784", "UMLS:C1860118", "SNOMEDCT:720408003", "medgen:349729", "icd11.foundation:700995487"], "information_content": 92.8}
{"id": "MONDO:0008759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oxoglutaricaciduria", "equivalent_identifiers": ["MONDO:0008759", "DOID:0081326", "OMIM:203740", "orphanet:31", "UMLS:C2752074", "MESH:C536582", "SNOMEDCT:733630004", "medgen:414553"], "information_content": 100.0}
{"id": "MONDO:0100247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple congenital anomalies-hypotonia-seizures syndrome", "equivalent_identifiers": ["MONDO:0100247", "DOID:0080503", "OMIM.PS:614080", "UMLS:C5191419", "SNOMEDCT:785303004", "medgen:1683744"], "information_content": 89.4}
{"id": "MONDO:0007561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia type 1", "equivalent_identifiers": ["MONDO:0007561", "DOID:0070303", "OMIM:132400", "orphanet:93308", "UMLS:C1838280", "UMLS:C1851538", "MESH:C535501", "SNOMEDCT:715673002", "medgen:325376", "icd11.foundation:2130489957"], "information_content": 100.0}
{"id": "MONDO:0014802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cowden syndrome 7", "equivalent_identifiers": ["MONDO:0014802", "DOID:0081003", "OMIM:616858", "UMLS:C4225179", "medgen:908796"], "information_content": 100.0}
{"id": "NCBIGene:51052", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRLH", "equivalent_identifiers": ["NCBIGene:51052", "ENSEMBL:ENSG00000071677", "HGNC:17945", "OMIM:602663", "UMLS:C1538719", "UniProtKB:P81277", "PR:P81277", "ENSEMBL:ENSP00000165524", "ENSEMBL:ENSP00000165524.1", "UMLS:C0907594", "MESH:C534377", "UniProtKB:Q53QV7"], "information_content": 100.0}
{"id": "MONDO:0024305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired hyperprolactinemia", "equivalent_identifiers": ["MONDO:0024305", "DOID:12700", "ICD10:E22.1"], "information_content": 92.8}
{"id": "MONDO:0006373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary gland adenoma", "equivalent_identifiers": ["MONDO:0006373", "DOID:3829", "orphanet:99408", "EFO:1000478", "UMLS:C0032000", "MEDDRA:10035079", "NCIT:C3329", "SNOMEDCT:128664001", "SNOMEDCT:254956000", "medgen:45933", "HP:0002893"], "information_content": 72.0}
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{"id": "UniProtKB:P29322-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin type-A receptor 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P29322-1", "PR:P29322-1", "ENSEMBL:ENSP00000166244", "ENSEMBL:ENSP00000166244.3"], "information_content": 100.0}
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{"id": "DOID:0080688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mosaic variegated aneuploidy syndrome", "equivalent_identifiers": ["DOID:0080688", "OMIM:257300", "UMLS:C1850343", "MESH:C536987", "NCIT:C128192"], "information_content": 100.0}
{"id": "UniProtKB:Q7L8A9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulinyl-Tyr carboxypeptidase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L8A9-1", "PR:Q7L8A9-1", "ENSEMBL:ENSP00000167106", "ENSEMBL:ENSP00000167106.4"], "information_content": 100.0}
{"id": "NCBIGene:3861", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT14", "equivalent_identifiers": ["NCBIGene:3861", "ENSEMBL:ENSG00000186847", "HGNC:6416", "OMIM:148066", "UMLS:C1416717", "UniProtKB:P02533", "PR:P02533", "ENSEMBL:ENSP00000167586", "ENSEMBL:ENSP00000167586.6", "UMLS:C1611622", "MESH:C507540"], "information_content": 100.0}
{"id": "MONDO:0005023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ductal breast carcinoma in situ", "equivalent_identifiers": ["MONDO:0005023", "DOID:0060074", "EFO:0000432", "UMLS:C0007124", "MESH:D002285", "MEDDRA:10007360", "MEDDRA:10013806", "NCIT:C2924", "SNOMEDCT:109889007", "SNOMEDCT:1162814007", "SNOMEDCT:278053004", "SNOMEDCT:373176000", "SNOMEDCT:86616005", "medgen:765", "HP:0030075"], "information_content": 81.3}
{"id": "MONDO:0017795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ameloblastoma", "equivalent_identifiers": ["MONDO:0017795", "DOID:0050894", "orphanet:314419", "UMLS:C0002448", "UMLS:C0563212", "MESH:D000564", "MEDDRA:10066796", "NCIT:C4313", "SNOMEDCT:20462008", "SNOMEDCT:285311001", "medgen:1457", "HP:0034515"], "information_content": 81.3}
{"id": "MONDO:0016471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pachyonychia congenita", "equivalent_identifiers": ["MONDO:0016471", "DOID:0050449", "OMIM.PS:167200", "orphanet:2309", "UMLS:C0265334", "MESH:D053549", "MEDDRA:10080088", "NCIT:C84986", "medgen:78556", "icd11.foundation:1446983705"], "information_content": 89.4}
{"id": "MONDO:0004007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast intraductal proliferative lesion", "equivalent_identifiers": ["MONDO:0004007", "DOID:6839", "UMLS:C1334631", "MEDDRA:10073094", "NCIT:C27942", "medgen:277343"], "information_content": 79.9}
{"id": "MONDO:0003725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast adenosis", "equivalent_identifiers": ["MONDO:0003725", "DOID:10352", "DOID:5998", "EFO:0006891", "UMLS:C0085750", "UMLS:C1305875", "MEDDRA:10006249", "MEDDRA:10016616", "MEDDRA:10016617", "NCIT:C3484", "SNOMEDCT:23260002", "medgen:39336", "ICD10:N60.2", "ICD9:610.2"], "information_content": 88.2}
{"id": "MONDO:0002065", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign breast adenomyoepithelioma", "equivalent_identifiers": ["MONDO:0002065", "DOID:1641", "UMLS:C1332477", "NCIT:C5144", "medgen:231421"], "information_content": 100.0}
{"id": "MONDO:0002486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lobular neoplasia", "equivalent_identifiers": ["MONDO:0002486", "DOID:3010", "UMLS:C0861352", "MEDDRA:10024756", "NCIT:C27939", "medgen:167824"], "information_content": 84.2}
{"id": "MONDO:0019508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "van der Woude syndrome", "equivalent_identifiers": ["MONDO:0019508", "DOID:0060239", "orphanet:888", "UMLS:C0175697", "UMLS:C1834339", "MESH:C536528", "MESH:C563529", "NCIT:C74986", "SNOMEDCT:79261008", "medgen:61233", "icd11.foundation:133440037", "ICD10:Q38.0"], "information_content": 92.8}
{"id": "MONDO:0010208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wrinkly skin syndrome", "equivalent_identifiers": ["MONDO:0010208", "DOID:0112171", "OMIM:278250", "orphanet:2834", "UMLS:C0406587", "MESH:C536750", "SNOMEDCT:238875009", "medgen:98030", "icd11.foundation:638767040"], "information_content": 100.0}
{"id": "MONDO:0010004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEC syndrome", "equivalent_identifiers": ["MONDO:0010004", "DOID:0060782", "OMIM:268650", "orphanet:1896", "UMLS:C0406704", "MESH:C536189", "NCIT:C148261", "SNOMEDCT:39788007", "medgen:98357"], "information_content": 92.8}
{"id": "NCBIGene:54474", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT20", "equivalent_identifiers": ["NCBIGene:54474", "ENSEMBL:ENSG00000171431", "HGNC:20412", "OMIM:608218", "UMLS:C1426926", "UniProtKB:P35900", "PR:P35900", "ENSEMBL:ENSP00000167588", "ENSEMBL:ENSP00000167588.3", "ENSEMBL:ENSP00000460501", "ENSEMBL:ENSP00000460501.2", "UMLS:C1433368", "MESH:C507499"], "information_content": 100.0}
{"id": "MONDO:0002378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermoid cyst", "equivalent_identifiers": ["MONDO:0002378", "DOID:2658", "EFO:1000894", "UMLS:C0011649", "MESH:D003884", "MEDDRA:10012522", "MEDDRA:10012523", "MEDDRA:10087681", "NCIT:C9011", "SNOMEDCT:123151001", "SNOMEDCT:417609007", "SNOMEDCT:419952004", "SNOMEDCT:441459009", "SNOMEDCT:72277008", "medgen:41504", "icd11.foundation:1622534741", "ICD10:K09.8", "HP:0025247"], "information_content": 85.5}
{"id": "MONDO:0005510", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydronephrosis", "equivalent_identifiers": ["MONDO:0005510", "DOID:11111", "EFO:0005562", "UMLS:C0020295", "MESH:D006869", "MEDDRA:10020524", "NCIT:C26796", "SNOMEDCT:43064006", "medgen:42531", "ICD10:N13.30", "ICD9:591", "HP:0000126"], "information_content": 86.3}
{"id": "MONDO:0006032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystitis", "equivalent_identifiers": ["MONDO:0006032", "DOID:1679", "EFO:1000025", "UMLS:C0010692", "MESH:D003556", "MEDDRA:10011754", "MEDDRA:10011781", "MEDDRA:10011798", "MEDDRA:10011802", "MEDDRA:10063059", "NCIT:C26738", "SNOMEDCT:38822007", "medgen:8227", "icd11.foundation:1181120673", "ICD10:N30", "ICD9:595", "HP:0100577"], "information_content": 80.9}
{"id": "MONDO:0003218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenocarcinoma in situ", "equivalent_identifiers": ["MONDO:0003218", "DOID:4943", "UMLS:C0334276", "MESH:D065311", "NCIT:C4123", "SNOMEDCT:51642000", "medgen:87203"], "information_content": 73.8}
{"id": "MONDO:0002603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiomyolipoma", "equivalent_identifiers": ["MONDO:0002603", "DOID:3314", "UMLS:C0206633", "MESH:D018207", "MEDDRA:10051810", "SNOMEDCT:1293131004", "SNOMEDCT:19929002", "medgen:64622"], "information_content": 89.4}
{"id": "MONDO:0006071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenofibroma", "equivalent_identifiers": ["MONDO:0006071", "DOID:2683", "EFO:1000070", "UMLS:C0001422", "UMLS:C4520837", "MESH:D000232", "MEDDRA:10072991", "NCIT:C8984", "SNOMEDCT:1157241000", "medgen:1325"], "information_content": 77.1}
{"id": "MONDO:0005635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenomyoma", "equivalent_identifiers": ["MONDO:0005635", "DOID:2609", "EFO:0007133", "UMLS:C0206622", "MESH:D018194", "MEDDRA:10063549", "NCIT:C3726", "SNOMEDCT:40293003", "medgen:64617"], "information_content": 84.2}
{"id": "MONDO:0001398", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ureter benign neoplasm", "equivalent_identifiers": ["MONDO:0001398", "DOID:11885", "UMLS:C0154016", "MEDDRA:10004418", "MEDDRA:10004468", "NCIT:C3617", "SNOMEDCT:92464009", "medgen:102303"], "information_content": 88.2}
{"id": "MONDO:0005106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipoma", "equivalent_identifiers": ["MONDO:0005106", "DOID:3315", "EFO:0000759", "UMLS:C0023798", "MESH:D008067", "MEDDRA:10024612", "MEDDRA:10024615", "MEDDRA:10024623", "NCIT:C3192", "SNOMEDCT:134328007", "SNOMEDCT:93163002", "medgen:44173", "icd11.foundation:1090000716", "ICD10:D17", "ICD10:D17.9", "ICD9:214", "HP:0012032"], "information_content": 70.6}
{"id": "MONDO:0004920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrocele", "equivalent_identifiers": ["MONDO:0004920", "DOID:9912", "EFO:1001859", "UMLS:C1720771", "MESH:D006848", "MEDDRA:10020488", "MEDDRA:10020502", "MEDDRA:10088637", "SNOMEDCT:26614003", "SNOMEDCT:386152007", "SNOMEDCT:55434001", "medgen:318568", "ICD10:N43", "HP:0000034"], "information_content": 88.2}
{"id": "MONDO:0003423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "middle ear adenoma", "equivalent_identifiers": ["MONDO:0003423", "DOID:5387", "UMLS:C1334759", "NCIT:C6834", "SNOMEDCT:734078009"], "information_content": 100.0}
{"id": "MONDO:0000634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thoracic benign neoplasm", "equivalent_identifiers": ["MONDO:0000634", "DOID:0060097", "UMLS:C0346440", "NCIT:C4565", "SNOMEDCT:255059002", "medgen:138065"], "information_content": 70.2}
{"id": "NCBIGene:6694", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPP2", "equivalent_identifiers": ["NCBIGene:6694", "ENSEMBL:ENSG00000072080", "HGNC:11256", "OMIM:602637", "UMLS:C1420370", "UniProtKB:Q13103", "PR:Q13103", "ENSEMBL:ENSP00000168148", "ENSEMBL:ENSP00000168148.3", "ENSEMBL:ENSP00000362466", "ENSEMBL:ENSP00000362466.1", "UMLS:C2973864", "MESH:C551869"], "information_content": 92.8}
{"id": "MONDO:0044308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bardet-biedl syndrome 21", "equivalent_identifiers": ["MONDO:0044308", "DOID:0081010", "OMIM:617406", "UMLS:C4319932", "medgen:1374358"], "information_content": 100.0}
{"id": "MONDO:0023670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 20", "equivalent_identifiers": ["MONDO:0023670", "DOID:0081009", "OMIM:619471", "UMLS:C4310707", "medgen:934674"], "information_content": 100.0}
{"id": "MONDO:0044326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay and seizures with or without movement abnormalities", "equivalent_identifiers": ["MONDO:0044326", "DOID:0080473", "OMIM:617836", "UMLS:C4693376", "medgen:1641343"], "information_content": 100.0}
{"id": "UniProtKB:Q99714-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3-hydroxyacyl-CoA dehydrogenase type-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99714-1", "PR:Q99714-1", "ENSEMBL:ENSP00000168216", "ENSEMBL:ENSP00000168216.6"], "information_content": 100.0}
{"id": "MONDO:0012761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 3q29 microduplication syndrome", "equivalent_identifiers": ["MONDO:0012761", "DOID:0060459", "OMIM:611936", "orphanet:251038", "UMLS:C2749873", "MESH:C567626", "SNOMEDCT:717973004", "medgen:440897"], "information_content": 100.0}
{"id": "MONDO:0000688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inborn organic aciduria", "equivalent_identifiers": ["MONDO:0000688", "DOID:0060159", "orphanet:289899", "UMLS:C0241775", "NCIT:C101334", "medgen:66037", "icd11.foundation:1921636230", "HP:0001992"], "information_content": 64.0}
{"id": "MONDO:0011614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency", "equivalent_identifiers": ["MONDO:0011614", "DOID:0081168", "OMIM:605911", "orphanet:35701", "UMLS:C2751532", "UMLS:C4510940", "MESH:C567784", "SNOMEDCT:725286002", "medgen:414399"], "information_content": 100.0}
{"id": "MONDO:0017312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perrault syndrome", "equivalent_identifiers": ["MONDO:0017312", "DOID:0050857", "OMIM.PS:233400", "orphanet:2855", "UMLS:C0685838", "MESH:C537286", "SNOMEDCT:93466004", "medgen:151934", "icd11.foundation:256968598"], "information_content": 86.3}
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{"id": "MONDO:0100095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures", "equivalent_identifiers": ["MONDO:0100095", "DOID:0070352", "OMIM:618170", "UMLS:C4748527", "medgen:1648391"], "information_content": 100.0}
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{"id": "MONDO:0005486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth agenesis", "equivalent_identifiers": ["MONDO:0005486", "DOID:0050591", "OMIM.PS:106600", "orphanet:99798", "EFO:0005410", "UMLS:C0020608", "MEDDRA:10055001", "MEDDRA:10055073", "NCIT:C171426", "SNOMEDCT:64969001", "medgen:43794", "icd11.foundation:1559717619", "ICD10:K00.0", "ICD9:520.0", "HP:0000668"], "information_content": 83.1}
{"id": "MONDO:0016296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly", "equivalent_identifiers": ["MONDO:0016296", "DOID:4621", "OMIM.PS:236100", "orphanet:2162", "UMLS:C0079541", "MESH:D016142", "MEDDRA:10056304", "NCIT:C74988", "SNOMEDCT:30915001", "medgen:38214", "icd11.foundation:1712699129", "ICD10:Q04.2", "HP:0001360"], "information_content": 80.2}
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{"id": "MONDO:0007872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LADD syndrome", "equivalent_identifiers": ["MONDO:0007872", "DOID:0050331", "DOID:0081370", "OMIM.PS:149730", "orphanet:2363", "UMLS:C0265269", "MESH:C538132", "MEDDRA:10085252", "MEDDRA:10085253", "SNOMEDCT:23817003", "medgen:78545"], "information_content": 90.9}
{"id": "MONDO:0000383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign reproductive system neoplasm", "equivalent_identifiers": ["MONDO:0000383", "DOID:0050622", "UMLS:C1332536", "NCIT:C7617", "medgen:234034"], "information_content": 64.1}
{"id": "MONDO:0002933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteosclerosis", "equivalent_identifiers": ["MONDO:0002933", "DOID:4254", "UMLS:C0029464", "MESH:D010026", "MEDDRA:10031298", "NCIT:C41236", "SNOMEDCT:49347007", "medgen:10502", "icd11.foundation:2061303143", "HP:0011001"], "information_content": 63.5}
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{"id": "MONDO:0004937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypervitaminosis D", "equivalent_identifiers": ["MONDO:0004937", "DOID:9971", "UMLS:C0242154", "UMLS:C1442839", "MEDDRA:10011839", "MEDDRA:10020917", "SNOMEDCT:10553007", "SNOMEDCT:27712000", "medgen:730644", "icd11.foundation:602997191", "ICD10:E67.3", "ICD9:278.4"], "information_content": 100.0}
{"id": "MONDO:0002173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroma", "equivalent_identifiers": ["MONDO:0002173", "DOID:2001", "EFO:0009619", "UMLS:C0027858", "UMLS:C0273482", "MESH:D009463", "MEDDRA:10011422", "MEDDRA:10029174", "MEDDRA:10029308", "MEDDRA:10029310", "MEDDRA:10029312", "MEDDRA:10078251", "NCIT:C3275", "SNOMEDCT:1163436007", "SNOMEDCT:25169009", "SNOMEDCT:274089002", "SNOMEDCT:443892003", "SNOMEDCT:84116009", "medgen:14352", "HP:0030430"], "information_content": 87.2}
{"id": "MONDO:0004751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orbital disease", "equivalent_identifiers": ["MONDO:0004751", "DOID:930", "UMLS:C0029182", "MESH:D009916", "MEDDRA:10031040", "MEDDRA:10054717", "SNOMEDCT:371436007", "medgen:45214", "ICD10:H05.9", "ICD9:376.9"], "information_content": 80.9}
{"id": "MONDO:0021004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly", "equivalent_identifiers": ["MONDO:0021004", "DOID:0050581", "UMLS:C0221357", "MESH:D059327", "MEDDRA:10072883", "SNOMEDCT:43476002", "medgen:67454", "icd11.foundation:598200019", "HP:0001156"], "information_content": 74.2}
{"id": "UniProtKB:P15907-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-galactoside alpha-2,6-sialyltransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P15907-1", "PR:P15907-1", "ENSEMBL:ENSP00000169298", "ENSEMBL:ENSP00000169298.3", "ENSEMBL:ENSP00000389337", "ENSEMBL:ENSP00000389337.1", "ENSEMBL:ENSP00000414504", "ENSEMBL:ENSP00000414504.2", "ENSEMBL:ENSP00000503457", "ENSEMBL:ENSP00000503457.1", "ENSEMBL:ENSP00000504448", "ENSEMBL:ENSP00000504448.1"], "information_content": 100.0}
{"id": "NCBIGene:29090", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMM21", "equivalent_identifiers": ["NCBIGene:29090", "ENSEMBL:ENSG00000075336", "HGNC:25010", "OMIM:615180", "UMLS:C3469993", "UniProtKB:A8K1K8", "UMLS:C3660377", "MESH:C578538", "UniProtKB:Q9BVV7", "PR:Q9BVV7", "ENSEMBL:ENSP00000169551", "ENSEMBL:ENSP00000169551.6"], "information_content": 95.4}
{"id": "MONDO:0012435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria type 5", "equivalent_identifiers": ["MONDO:0012435", "DOID:0110000", "OMIM:610198", "orphanet:66634", "UMLS:C1857776", "MESH:C565706", "NCIT:C173146", "SNOMEDCT:711412004", "medgen:347542", "icd11.foundation:422277813"], "information_content": 100.0}
{"id": "MONDO:0010578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jensen syndrome", "equivalent_identifiers": ["MONDO:0010578", "DOID:0050757", "OMIM:304700", "orphanet:52368", "UMLS:C0796074", "UMLS:C1839564", "MESH:C535808", "MESH:C537568", "SNOMEDCT:702423009", "medgen:162903"], "information_content": 100.0}
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{"id": "MONDO:0030472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 98", "equivalent_identifiers": ["MONDO:0030472", "DOID:0070384", "OMIM:619605", "UMLS:C5562017", "medgen:1794227"], "information_content": 100.0}
{"id": "MONDO:0014961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 16", "equivalent_identifiers": ["MONDO:0014961", "DOID:0070184", "OMIM:617187", "UMLS:C4310674", "medgen:934641"], "information_content": 100.0}
{"id": "MONDO:0014265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease 18", "equivalent_identifiers": ["MONDO:0014265", "DOID:0110050", "OMIM:615590", "UMLS:C3810041", "medgen:816371"], "information_content": 100.0}
{"id": "UniProtKB:Q9H000-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase makorin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H000-1", "PR:Q9H000-1", "ENSEMBL:ENSP00000170447", "ENSEMBL:ENSP00000170447.7", "ENSEMBL:ENSP00000502893", "ENSEMBL:ENSP00000502893.1"], "information_content": 100.0}
{"id": "MONDO:0019165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central precocious puberty", "equivalent_identifiers": ["MONDO:0019165", "DOID:0112308", "OMIM.PS:176400", "orphanet:650063", "EFO:0009029", "UMLS:C0342543", "MESH:C562787", "MEDDRA:10073186", "MEDDRA:10075911", "NCIT:C113217", "SNOMEDCT:237816004", "medgen:90985", "icd11.foundation:1749914533", "ICD10:E22.8"], "information_content": 83.6}
{"id": "MONDO:0005965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal stenosis", "equivalent_identifiers": ["MONDO:0005965", "DOID:6725", "EFO:0007490", "UMLS:C0037944", "UMLS:C0158280", "UMLS:C1861329", "MESH:D013130", "MEDDRA:10008313", "MEDDRA:10041593", "MEDDRA:10041594", "MEDDRA:10041596", "MEDDRA:10082214", "MEDDRA:10082216", "NCIT:C177444", "SNOMEDCT:76107001", "SNOMEDCT:83561009", "medgen:396107", "icd11.foundation:1847895828", "ICD10:M48.0", "ICD10:M48.02", "ICD10:M48.061", "ICD9:723.0", "ICD9:724.00", "HP:0003416"], "information_content": 90.9}
{"id": "UniProtKB:Q9HBL0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tensin-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBL0-1", "PR:Q9HBL0-1", "ENSEMBL:ENSP00000171887", "ENSEMBL:ENSP00000171887.4"], "information_content": 100.0}
{"id": "MONDO:0016063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cowden disease", "equivalent_identifiers": ["MONDO:0016063", "DOID:0050657", "DOID:6457", "OMIM.PS:158350", "orphanet:201", "UMLS:C0018553", "UMLS:C0265326", "MESH:D006223", "MEDDRA:10051906", "MEDDRA:10051915", "MEDDRA:10051916", "MEDDRA:10080314", "NCIT:C3076", "NCIT:C3939", "SNOMEDCT:234138005", "SNOMEDCT:58037000", "medgen:5420", "ICD10:Q87.89"], "information_content": 85.5}
{"id": "UniProtKB:P08138-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08138-1", "PR:P08138-1", "ENSEMBL:ENSP00000172229", "ENSEMBL:ENSP00000172229.3"], "information_content": 100.0}
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{"id": "MONDO:0007932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age related macular degeneration 2", "equivalent_identifiers": ["MONDO:0007932", "DOID:0110015", "OMIM:153800", "UMLS:C3495438", "MESH:C562479", "medgen:501183"], "information_content": 100.0}
{"id": "MONDO:0032702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome 8", "equivalent_identifiers": ["MONDO:0032702", "DOID:0112367", "OMIM:618362", "UMLS:C5193054", "medgen:1679527"], "information_content": 100.0}
{"id": "UniProtKB:Q12816-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trophinin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12816-1", "PR:Q12816-1", "ENSEMBL:ENSP00000173898", "ENSEMBL:ENSP00000173898.7"], "information_content": 100.0}
{"id": "NCBIGene:4335", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MNT", "equivalent_identifiers": ["NCBIGene:4335", "ENSEMBL:ENSG00000070444", "HGNC:7188", "OMIM:603039", "UMLS:C1417222", "UniProtKB:Q99583", "PR:Q99583", "ENSEMBL:ENSP00000174618", "ENSEMBL:ENSP00000174618.4", "UMLS:C1430823", "MESH:C106465"], "information_content": 92.8}
{"id": "MONDO:0009532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Miller-Dieker lissencephaly syndrome", "equivalent_identifiers": ["MONDO:0009532", "DOID:0060469", "OMIM:247200", "orphanet:531", "UMLS:C0265219", "UMLS:C1855481", "MEDDRA:10068361", "MEDDRA:10079426", "NCIT:C124852", "SNOMEDCT:253148005", "medgen:78538", "ICD10:Q93.88"], "information_content": 100.0}
{"id": "NCBIGene:9741", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LAPTM4A", "equivalent_identifiers": ["NCBIGene:9741", "ENSEMBL:ENSG00000068697", "HGNC:6924", "OMIM:618837", "UMLS:C1417056", "UniProtKB:Q15012", "PR:Q15012", "ENSEMBL:ENSP00000175091", "ENSEMBL:ENSP00000175091.4", "UMLS:C3253373", "MESH:C569342", "UniProtKB:Q6IBP4"], "information_content": 90.9}
{"id": "MONDO:0006862", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofascial pain syndrome", "equivalent_identifiers": ["MONDO:0006862", "DOID:431", "EFO:1001054", "UMLS:C0027073", "MESH:D009209", "MEDDRA:10048780", "SNOMEDCT:24693007", "medgen:6496"], "information_content": 95.4}
{"id": "MONDO:0006894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patellofemoral pain syndrome", "equivalent_identifiers": ["MONDO:0006894", "DOID:14284", "EFO:1001092", "UMLS:C0877149", "UMLS:C2315536", "MESH:D046788", "MEDDRA:10002697", "MEDDRA:10049143", "SNOMEDCT:430725003", "medgen:164080"], "information_content": 100.0}
{"id": "MONDO:0006968", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "shoulder impingement syndrome", "equivalent_identifiers": ["MONDO:0006968", "DOID:14276", "EFO:1001178", "UMLS:C0376685", "UMLS:C1655733", "UMLS:C5779645", "MESH:D019534", "MEDDRA:10049039", "SNOMEDCT:202849001", "SNOMEDCT:239960007", "medgen:138249", "ICD10:M75.4", "HP:0030881"], "information_content": 100.0}
{"id": "MONDO:0004833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plantar fasciitis", "equivalent_identifiers": ["MONDO:0004833", "DOID:9600", "EFO:1001909", "UMLS:C0149756", "MESH:D036981", "MEDDRA:10016239", "MEDDRA:10035155", "MEDDRA:10066146", "SNOMEDCT:202882003", "medgen:56201", "icd11.foundation:254630809"], "information_content": 100.0}
{"id": "MONDO:0002471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bursitis", "equivalent_identifiers": ["MONDO:0002471", "DOID:2965", "UMLS:C0006444", "MESH:D002062", "MEDDRA:10006809", "MEDDRA:10006811", "NCIT:C94407", "SNOMEDCT:84017003", "medgen:691", "icd11.foundation:1984620329", "ICD10:M71.9", "HP:0025232"], "information_content": 88.2}
{"id": "MONDO:0006763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frozen shoulder", "equivalent_identifiers": ["MONDO:0006763", "DOID:14188", "EFO:1000941", "UMLS:C0149848", "UMLS:C0311223", "UMLS:C1306835", "MEDDRA:10001286", "MEDDRA:10017391", "SNOMEDCT:399114005", "SNOMEDCT:78715003", "medgen:90227", "ICD10:M75.0", "ICD9:726.0"], "information_content": 100.0}
{"id": "MONDO:0002253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylosis", "equivalent_identifiers": ["MONDO:0002253", "DOID:2247", "UMLS:C0038019", "UMLS:C0158244", "MESH:D055009", "MEDDRA:10025020", "MEDDRA:10041678", "MEDDRA:10041681", "MEDDRA:10041682", "SNOMEDCT:48210000", "medgen:21295", "ICD10:M47", "ICD9:721.9"], "information_content": 100.0}
{"id": "MONDO:0001730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urethral syndrome", "equivalent_identifiers": ["MONDO:0001730", "DOID:13498", "UMLS:C0156279", "MEDDRA:10046477", "MEDDRA:10046478", "SNOMEDCT:31273004", "medgen:510225", "ICD10:N34.3", "ICD9:597.81"], "information_content": 100.0}
{"id": "MONDO:0002443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bruxism", "equivalent_identifiers": ["MONDO:0002443", "DOID:2846", "UMLS:C0006325", "UMLS:C0393774", "UMLS:C0751771", "MESH:D002012", "MESH:D020186", "MEDDRA:10006514", "MEDDRA:10006515", "MEDDRA:10018489", "MEDDRA:10018725", "MEDDRA:10043175", "MEDDRA:10043176", "MEDDRA:10043182", "MEDDRA:10089085", "NCIT:C73511", "SNOMEDCT:191983006", "SNOMEDCT:274950005", "SNOMEDCT:90207007", "medgen:676", "icd11.foundation:1046319083", "ICD10:F45.8", "ICD10:G47.63", "ICD9:327.53", "HP:0003763"], "information_content": 95.4}
{"id": "UniProtKB:Q9H2U9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2U9-1", "PR:Q9H2U9-1", "ENSEMBL:ENSP00000175238", "ENSEMBL:ENSP00000175238.5"], "information_content": 100.0}
{"id": "UniProtKB:Q99952-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein phosphatase non-receptor type 18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99952-1", "PR:Q99952-1", "ENSEMBL:ENSP00000175756", "ENSEMBL:ENSP00000175756.5"], "information_content": 100.0}
{"id": "NCBIGene:1815", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRD4", "equivalent_identifiers": ["NCBIGene:1815", "ENSEMBL:ENSG00000069696", "HGNC:3025", "OMIM:126452", "UMLS:C1333254", "UniProtKB:P21917", "PR:P21917", "ENSEMBL:ENSP00000176183", "ENSEMBL:ENSP00000176183.5", "ENSEMBL:ENSP00000478431", "ENSEMBL:ENSP00000478431.1", "UMLS:C1529457", "MESH:C493599"], "information_content": 100.0}
{"id": "MONDO:0005352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conduct disorder", "equivalent_identifiers": ["MONDO:0005352", "DOID:12995", "EFO:0004216", "UMLS:C0149654", "MESH:D019955", "MEDDRA:10045849", "MEDDRA:10064279", "MEDDRA:10064288", "MEDDRA:10064478", "NCIT:C89329", "SNOMEDCT:430909002", "medgen:56196", "ICD10:F91", "ICD9:312.9"], "information_content": 100.0}
{"id": "MONDO:0000495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oppositional defiant disorder", "equivalent_identifiers": ["MONDO:0000495", "DOID:0050856", "UMLS:C0029121", "UMLS:C0236964", "MESH:D000096865", "MESH:D019958", "MEDDRA:10003730", "MEDDRA:10056440", "NCIT:C92565", "SNOMEDCT:18941000", "medgen:18178", "icd11.foundation:1487528823", "HP:0010865"], "information_content": 100.0}
{"id": "MONDO:0011662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gambling", "equivalent_identifiers": ["MONDO:0011662", "DOID:12399", "OMIM:606349", "EFO:1001926", "UMLS:C0030662", "MESH:D005715", "MEDDRA:10017656", "MEDDRA:10017657", "MEDDRA:10034158", "MEDDRA:10078070", "NCIT:C94335", "SNOMEDCT:18085000", "medgen:14632", "ICD10:F63.0", "ICD9:312.31", "HP:5200334"], "information_content": 100.0}
{"id": "MONDO:0002028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "personality disorder", "equivalent_identifiers": ["MONDO:0002028", "DOID:1510", "UMLS:C0029707", "UMLS:C0031212", "MESH:D010554", "MEDDRA:10013256", "MEDDRA:10034721", "MEDDRA:10034722", "MEDDRA:10046097", "NCIT:C34922", "SNOMEDCT:33449004", "medgen:45827", "icd11.foundation:941859884", "ICD10:F60", "ICD9:301.8", "HP:0012075"], "information_content": 83.6}
{"id": "MONDO:0002420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tic disorder", "equivalent_identifiers": ["MONDO:0002420", "DOID:2769", "UMLS:C0040188", "UMLS:C0278076", "UMLS:C2169806", "MESH:D013981", "MESH:D020323", "MEDDRA:10043833", "MEDDRA:10043834", "MEDDRA:10043835", "MEDDRA:10043849", "NCIT:C116758", "SNOMEDCT:386783003", "SNOMEDCT:402732001", "SNOMEDCT:568005", "medgen:853666", "ICD10:F95", "ICD9:307.20", "HP:0100033"], "information_content": 89.4}
{"id": "MONDO:0005367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heroin dependence", "equivalent_identifiers": ["MONDO:0005367", "DOID:9976", "EFO:0004240", "UMLS:C0019337", "MESH:D006556", "MEDDRA:10019935", "NCIT:C34694", "SNOMEDCT:231477003", "medgen:5532", "icd11.foundation:443161089", "HP:0033517"], "information_content": 100.0}
{"id": "MONDO:0005186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cocaine dependence", "equivalent_identifiers": ["MONDO:0005186", "DOID:9975", "EFO:0002610", "UMLS:C0600427", "MEDDRA:10009815", "MEDDRA:10009817", "MEDDRA:10009821", "MEDDRA:10012342", "NCIT:C34492", "SNOMEDCT:31956009", "medgen:154705", "icd11.foundation:1691013484", "ICD10:F14.2", "ICD9:304.2", "HP:0033513"], "information_content": 92.8}
{"id": "MONDO:0005689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cannabis abuse", "equivalent_identifiers": ["MONDO:0005689", "DOID:1849", "DOID:9505", "EFO:0007191", "UMLS:C0006868", "UMLS:C0006870", "UMLS:C0024809", "MESH:D002189", "MEDDRA:10007171", "MEDDRA:10007176", "MEDDRA:10007177", "MEDDRA:10012341", "MEDDRA:10012345", "MEDDRA:10076891", "NCIT:C34445", "SNOMEDCT:37344009", "SNOMEDCT:85005007", "medgen:14303", "icd11.foundation:1129015467", "ICD10:F12", "ICD10:F12.1", "ICD10:F12.2", "ICD9:304.3", "ICD9:305.2", "HP:5200341"], "information_content": 92.8}
{"id": "MONDO:0001442", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysthymic disorder", "equivalent_identifiers": ["MONDO:0001442", "DOID:12139", "EFO:0008623", "UMLS:C0013415", "MESH:D019263", "MEDDRA:10013981", "MEDDRA:10013982", "NCIT:C34562", "SNOMEDCT:78667006", "medgen:8517", "icd11.foundation:810797047", "ICD10:F34.1", "ICD9:300.4"], "information_content": 100.0}
{"id": "MONDO:0004359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "delusional disorder", "equivalent_identifiers": ["MONDO:0004359", "DOID:778", "UMLS:C0011251", "MEDDRA:10012256", "NCIT:C94379", "SNOMEDCT:48500005", "medgen:8276", "icd11.foundation:1974996783", "ICD10:F22", "ICD9:297.1"], "information_content": 86.3}
{"id": "MONDO:0005487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizoaffective disorder", "equivalent_identifiers": ["MONDO:0005487", "DOID:5418", "EFO:0005411", "UMLS:C0036337", "UMLS:C1456872", "MEDDRA:10039613", "MEDDRA:10039621", "MEDDRA:10039622", "MEDDRA:10039635", "NCIT:C94378", "SNOMEDCT:191567000", "SNOMEDCT:68890003", "medgen:11334", "icd11.foundation:106339515", "ICD10:F25", "ICD9:295.7"], "information_content": 92.8}
{"id": "MONDO:0013189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hair-pulling", "equivalent_identifiers": ["MONDO:0013189", "DOID:0050587", "OMIM:613229", "UMLS:C0040953", "MESH:D014256", "MEDDRA:10019046", "MEDDRA:10044629", "MEDDRA:10089585", "NCIT:C94336", "SNOMEDCT:17155009", "medgen:21654", "icd11.foundation:1253999657", "HP:0012167"], "information_content": 100.0}
{"id": "MONDO:0005567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "substance withdrawal syndrome", "equivalent_identifiers": ["MONDO:0005567", "DOID:0060001", "EFO:0005800", "UMLS:C0038587", "MESH:D013375", "MEDDRA:10042854", "MEDDRA:10048010", "NCIT:C35046", "SNOMEDCT:1254795002", "SNOMEDCT:363101005", "medgen:20990"], "information_content": 85.5}
{"id": "MONDO:0000983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exhibitionism", "equivalent_identifiers": ["MONDO:0000983", "DOID:10236", "UMLS:C0015269", "MESH:D005084", "MEDDRA:10015670", "MEDDRA:10015671", "MEDDRA:10016756", "NCIT:C94352", "SNOMEDCT:58349009", "medgen:41913", "ICD10:F65.2", "ICD9:302.4"], "information_content": 100.0}
{"id": "MONDO:0000661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alexithymia", "equivalent_identifiers": ["MONDO:0000661", "DOID:0060131", "UMLS:C0002020", "MEDDRA:10077719", "SNOMEDCT:34413007", "medgen:194", "HP:0031433"], "information_content": 100.0}
{"id": "NCBIGene:6343", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCT", "equivalent_identifiers": ["NCBIGene:6343", "ENSEMBL:ENSG00000070031", "HGNC:10607", "OMIM:182099", "UMLS:C1419875", "UniProtKB:P09683", "PR:P09683", "ENSEMBL:ENSP00000176195", "ENSEMBL:ENSP00000176195.3", "ENSEMBL:ENSP00000483559", "ENSEMBL:ENSP00000483559.1", "UMLS:C4724001", "UMLS:C4724173"], "information_content": 100.0}
{"id": "MONDO:0019610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zollinger-Ellison syndrome", "equivalent_identifiers": ["MONDO:0019610", "DOID:0050782", "orphanet:913", "EFO:0007549", "UMLS:C0043515", "MESH:D015043", "MEDDRA:10042855", "MEDDRA:10048253", "MEDDRA:10048281", "NCIT:C3453", "SNOMEDCT:53132006", "medgen:53129", "icd11.foundation:375645550", "ICD10:E16.4", "HP:0002044"], "information_content": 90.9}
{"id": "MONDO:0005412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenal ulcer", "equivalent_identifiers": ["MONDO:0005412", "DOID:1724", "EFO:0004607", "UMLS:C0010474", "UMLS:C0013295", "MESH:D004381", "MEDDRA:10011646", "MEDDRA:10013836", "MEDDRA:10045297", "NCIT:C26755", "SNOMEDCT:367474008", "SNOMEDCT:39755000", "SNOMEDCT:51868009", "medgen:41670", "icd11.foundation:553678663", "ICD10:K26", "ICD9:532", "HP:0002588"], "information_content": 95.4}
{"id": "MONDO:0017169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple endocrine neoplasia", "equivalent_identifiers": ["MONDO:0017169", "DOID:3125", "UMLS:C0027662", "UMLS:C0311355", "MESH:D009377", "MEDDRA:10028189", "MEDDRA:10028193", "MEDDRA:10028196", "MEDDRA:10036071", "MEDDRA:10051747", "MEDDRA:10061299", "NCIT:C6432", "SNOMEDCT:46724008", "SNOMEDCT:60549007"], "information_content": 79.3}
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{"id": "MONDO:0004058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "WDHA Syndrome", "equivalent_identifiers": ["MONDO:0004058", "DOID:6977", "UMLS:C0086768", "MEDDRA:10047318", "NCIT:C3488", "SNOMEDCT:39998009", "medgen:39692"], "information_content": 90.9}
{"id": "MONDO:0004966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastritis", "equivalent_identifiers": ["MONDO:0004966", "DOID:4029", "EFO:0000217", "UMLS:C0017152", "MESH:D005756", "MEDDRA:10017790", "MEDDRA:10017853", "MEDDRA:10017869", "MEDDRA:10021967", "MEDDRA:10042110", "MEDDRA:10078716", "NCIT:C26780", "SNOMEDCT:4556007", "medgen:4843", "icd11.foundation:1871672644", "ICD10:K29.7", "HP:0005263"], "information_content": 78.5}
{"id": "MONDO:0001079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic steatorrhea", "equivalent_identifiers": ["MONDO:0001079", "DOID:10610", "UMLS:C0152166", "MEDDRA:10033641", "MEDDRA:10033642", "SNOMEDCT:54576000", "medgen:508909", "ICD10:K90.3", "ICD9:579.4"], "information_content": 100.0}
{"id": "MONDO:0001561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyloric stenosis", "equivalent_identifiers": ["MONDO:0001561", "DOID:12639", "DOID:3122", "EFO:0009626", "EFO:1000947", "UMLS:C0034194", "UMLS:C0162651", "UMLS:C1541124", "MESH:D011707", "MESH:D017219", "MEDDRA:10029968", "MEDDRA:10037621", "MEDDRA:10037624", "MEDDRA:10041994", "MEDDRA:10062499", "NCIT:C34966", "SNOMEDCT:244815007", "SNOMEDCT:367403001", "medgen:18780", "ICD10:K31.1", "HP:0002021"], "information_content": 84.8}
{"id": "MONDO:0006769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastroparesis", "equivalent_identifiers": ["MONDO:0006769", "DOID:11914", "EFO:1000948", "UMLS:C0152020", "MESH:D018589", "MEDDRA:10003632", "MEDDRA:10003634", "MEDDRA:10017753", "MEDDRA:10017818", "MEDDRA:10018043", "MEDDRA:10033811", "MEDDRA:10042077", "NCIT:C80512", "SNOMEDCT:196753007", "SNOMEDCT:235675006", "medgen:101809", "icd11.foundation:598423727", "ICD10:K31.84", "ICD9:536.3", "HP:0002578"], "information_content": 95.4}
{"id": "MONDO:0019933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromegaly", "equivalent_identifiers": ["MONDO:0019933", "DOID:2449", "orphanet:963", "EFO:1001485", "UMLS:C0001206", "UMLS:C0235986", "MESH:C531600", "MESH:D000172", "MEDDRA:10000599", "MEDDRA:10018227", "MEDDRA:10018750", "MEDDRA:10018752", "MEDDRA:10041334", "MEDDRA:10041339", "MEDDRA:10041340", "NCIT:C112834", "NCIT:C84533", "SNOMEDCT:74107003", "medgen:1304", "HP:0000845"], "information_content": 95.4}
{"id": "MONDO:0001979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dumping syndrome", "equivalent_identifiers": ["MONDO:0001979", "DOID:14495", "EFO:1001307", "UMLS:C0013288", "MESH:D004377", "MEDDRA:10013810", "NCIT:C2994", "medgen:8501", "icd11.foundation:237191235", "ICD10:K91.1", "HP:6001017"], "information_content": 100.0}
{"id": "MONDO:0001126", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric ulcer", "equivalent_identifiers": ["MONDO:0001126", "DOID:10808", "EFO:0009454", "UMLS:C0038358", "MESH:D013276", "MEDDRA:10017822", "MEDDRA:10042116", "MEDDRA:10045304", "MEDDRA:10045336", "MEDDRA:10045374", "NCIT:C3388", "SNOMEDCT:397825006", "medgen:21330", "icd11.foundation:1437411258", "ICD10:K25", "ICD9:531", "HP:0002592"], "information_content": 92.8}
{"id": "NCBIGene:6793", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STK10", "equivalent_identifiers": ["NCBIGene:6793", "ENSEMBL:ENSG00000072786", "HGNC:11388", "OMIM:603919", "UMLS:C1420463", "UniProtKB:O94804", "PR:O94804", "ENSEMBL:ENSP00000176763", "ENSEMBL:ENSP00000176763.5", "UMLS:C1259020", "MESH:C474806"], "information_content": 89.4}
{"id": "NCBIGene:30009", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBX21", "equivalent_identifiers": ["NCBIGene:30009", "ENSEMBL:ENSG00000073861", "HGNC:11599", "OMIM:604895", "UMLS:C1420610", "UniProtKB:Q9UL17", "PR:Q9UL17", "ENSEMBL:ENSP00000177694", "ENSEMBL:ENSP00000177694.1", "UMLS:C1447831", "MESH:C000730288"], "information_content": 95.4}
{"id": "MONDO:0005292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colitis", "equivalent_identifiers": ["MONDO:0005292", "DOID:0060180", "EFO:0003872", "UMLS:C0009319", "MESH:D003092", "MEDDRA:10009887", "MEDDRA:10009889", "MEDDRA:10009898", "MEDDRA:10079511", "MEDDRA:10087699", "MEDDRA:10087700", "NCIT:C26723", "SNOMEDCT:64226004", "medgen:40385", "ICD10:K52.9", "HP:0002583"], "information_content": 79.0}
{"id": "MONDO:0005011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crohn disease", "equivalent_identifiers": ["MONDO:0005011", "DOID:8778", "EFO:0000384", "UMLS:C0010346", "MESH:D003424", "MEDDRA:10011398", "MEDDRA:10011401", "MEDDRA:10011405", "MEDDRA:10013099", "NCIT:C2965", "SNOMEDCT:34000006", "SNOMEDCT:7620006", "medgen:3664", "icd11.foundation:1267652425", "HP:0100280"], "information_content": 71.8}
{"id": "MONDO:0021167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myositis", "equivalent_identifiers": ["MONDO:0021167", "DOID:633", "EFO:0000783", "UMLS:C0027121", "MESH:D009220", "MEDDRA:10028313", "MEDDRA:10028653", "NCIT:C27578", "SNOMEDCT:128496001", "SNOMEDCT:26889001", "medgen:44564", "ICD10:M60", "HP:0100614"], "information_content": 73.3}
{"id": "NCBIGene:65993", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPS34", "equivalent_identifiers": ["NCBIGene:65993", "ENSEMBL:ENSG00000074071", "HGNC:16618", "OMIM:611994", "UMLS:C1424441", "UniProtKB:C9JJ19", "ENSEMBL:ENSP00000177742", "ENSEMBL:ENSP00000177742.3", "UMLS:C1174087", "MESH:C471039", "UniProtKB:P82930", "PR:P82930", "ENSEMBL:ENSP00000380531", "ENSEMBL:ENSP00000380531.3"]}
{"id": "MONDO:0000732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency", "equivalent_identifiers": ["MONDO:0000732", "DOID:0060286", "OMIM.PS:609060", "UMLS:C4540031", "medgen:1626645", "icd11.foundation:1953023896"], "information_content": 72.4}
{"id": "UniProtKB:O43570-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carbonic anhydrase 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43570-1", "PR:O43570-1", "ENSEMBL:ENSP00000178638", "ENSEMBL:ENSP00000178638.3"], "information_content": 100.0}
{"id": "MONDO:0009468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudotumor cerebri", "equivalent_identifiers": ["MONDO:0009468", "DOID:11459", "OMIM:243200", "orphanet:238624", "EFO:1001132", "UMLS:C0033845", "MESH:D011559", "MEDDRA:10004277", "MEDDRA:10037149", "MEDDRA:10073807", "MEDDRA:10078904", "NCIT:C85035", "SNOMEDCT:68267002", "medgen:18732", "ICD10:G93.2", "ICD9:348.2"], "information_content": 100.0}
{"id": "MONDO:0018801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bilateral absence of vas deferens", "equivalent_identifiers": ["MONDO:0018801", "DOID:0111862", "OMIM.PS:277180", "orphanet:48", "UMLS:C1865433", "SNOMEDCT:275416002", "medgen:400764"], "information_content": 90.9}
{"id": "UniProtKB:Q13163-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity mitogen-activated protein kinase kinase 5 isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q13163-1", "PR:Q13163-1", "ENSEMBL:ENSP00000178640", "ENSEMBL:ENSP00000178640.5"], "information_content": 100.0}
{"id": "NCBIGene:57103", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIGAR", "equivalent_identifiers": ["NCBIGene:57103", "ENSEMBL:ENSG00000078237", "HGNC:1185", "OMIM:610775", "UMLS:C1412882", "UniProtKB:Q9NQ88", "PR:Q9NQ88", "ENSEMBL:ENSP00000179259", "ENSEMBL:ENSP00000179259.4", "UMLS:C1741918", "MESH:C512708"], "information_content": 100.0}
{"id": "DOID:3012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Li-Fraumeni syndrome", "equivalent_identifiers": ["DOID:3012", "OMIM:151623", "UMLS:C0085390", "UMLS:C2675080", "MESH:C567189", "MESH:D016864", "MEDDRA:10066795", "NCIT:C3476", "SNOMEDCT:428850001"], "information_content": 89.4}
{"id": "NCBIGene:26281", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGF20", "equivalent_identifiers": ["NCBIGene:26281", "ENSEMBL:ENSG00000078579", "HGNC:3677", "OMIM:605558", "UMLS:C1333537", "UniProtKB:Q9NP95", "PR:Q9NP95", "ENSEMBL:ENSP00000180166", "ENSEMBL:ENSP00000180166.5", "UMLS:C0962069", "MESH:C416003"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y216-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol-3-phosphate phosphatase MTMR7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y216-1", "PR:Q9Y216-1", "ENSEMBL:ENSP00000180173", "ENSEMBL:ENSP00000180173.4"], "information_content": 100.0}
{"id": "MONDO:0018947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "centronuclear myopathy", "equivalent_identifiers": ["MONDO:0018947", "DOID:14717", "OMIM.PS:160150", "orphanet:595", "UMLS:C0175709", "MEDDRA:10088268", "SNOMEDCT:82077006", "medgen:104495", "icd11.foundation:742097637", "ICD10:G71.22"], "information_content": 84.8}
{"id": "MONDO:0007012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "variant Creutzfeldt-Jakob disease", "equivalent_identifiers": ["MONDO:0007012", "DOID:5435", "orphanet:576370", "EFO:1001233", "UMLS:C0376329", "MEDDRA:10064199", "NCIT:C128438", "SNOMEDCT:304603007", "medgen:138163", "icd11.foundation:378572696"], "information_content": 95.4}
{"id": "UniProtKB:Q96IY4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carboxypeptidase B2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96IY4-1", "PR:Q96IY4-1", "ENSEMBL:ENSP00000181383", "ENSEMBL:ENSP00000181383.4"], "information_content": 100.0}
{"id": "MONDO:0005767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gas gangrene", "equivalent_identifiers": ["MONDO:0005767", "DOID:9159", "EFO:0007279", "UMLS:C0017105", "MESH:D005738", "MEDDRA:10017737", "SNOMEDCT:80466000", "medgen:8959", "icd11.foundation:1920227791", "ICD10:A48.0", "ICD9:040.0"], "information_content": 100.0}
{"id": "MONDO:0005928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "post-thrombotic syndrome", "equivalent_identifiers": ["MONDO:0005928", "DOID:2364", "EFO:0007452", "UMLS:C0032807", "UMLS:C1456464", "MESH:D011186", "MEDDRA:10036425", "MEDDRA:10048589", "SNOMEDCT:20427003", "SNOMEDCT:410013001", "medgen:46043", "ICD10:I87.0", "ICD9:459.1"], "information_content": 100.0}
{"id": "MONDO:0008737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Afibrinogenemia", "equivalent_identifiers": ["MONDO:0008737", "DOID:2236", "OMIM:202400", "orphanet:98880", "UMLS:C0001733", "UMLS:C2584774", "MESH:D000347", "MEDDRA:10001453", "MEDDRA:10052651", "MEDDRA:10066356", "MEDDRA:10066357", "NCIT:C98130", "SNOMEDCT:154818001", "SNOMEDCT:278504009", "SNOMEDCT:439145006", "medgen:749036", "HP:0034287"], "information_content": 92.8}
{"id": "MONDO:0016244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical hemolytic-uremic syndrome", "equivalent_identifiers": ["MONDO:0016244", "DOID:0080301", "orphanet:2134", "UMLS:C2931788", "MESH:D065766", "MEDDRA:10079840", "MEDDRA:10079841", "MEDDRA:10079842", "NCIT:C123223", "SNOMEDCT:789660001", "medgen:444141"], "information_content": 84.2}
{"id": "MONDO:0019565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary von Willebrand disease", "equivalent_identifiers": ["MONDO:0019565", "DOID:12531", "orphanet:903", "UMLS:C2930849", "UMLS:C5703318", "MESH:C531844", "SNOMEDCT:1259242002", "SNOMEDCT:234446004", "medgen:1814986", "icd11.foundation:2112021600", "ICD10:D68.0", "ICD9:286.4"], "information_content": 84.2}
{"id": "MONDO:0009315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital factor XII deficiency", "equivalent_identifiers": ["MONDO:0009315", "DOID:2231", "OMIM:234000", "orphanet:330", "UMLS:C0015526", "MESH:D005175", "MEDDRA:10051806", "NCIT:C131740", "SNOMEDCT:46981006", "medgen:8772", "HP:0004841"], "information_content": 90.9}
{"id": "MONDO:0011136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Quebec platelet disorder", "equivalent_identifiers": ["MONDO:0011136", "DOID:0111050", "OMIM:601709", "orphanet:220436", "UMLS:C1866423", "MESH:C536260", "medgen:356528", "icd11.foundation:1618741944"], "information_content": 100.0}
{"id": "MONDO:0004431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemarthrosis", "equivalent_identifiers": ["MONDO:0004431", "DOID:801", "EFO:1001344", "UMLS:C0018924", "MESH:D006395", "MEDDRA:10018829", "MEDDRA:10019409", "MEDDRA:10019417", "MEDDRA:10022750", "MEDDRA:10055292", "MEDDRA:10059609", "MEDDRA:10060469", "SNOMEDCT:81808003", "medgen:5479", "ICD10:M25.0", "ICD9:719.1", "HP:0005261"], "information_content": 95.4}
{"id": "MONDO:0018029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital factor XIII deficiency", "equivalent_identifiers": ["MONDO:0018029", "DOID:2211", "orphanet:331", "UMLS:C0015530", "MEDDRA:10016083", "NCIT:C131633", "NCIT:C98941", "SNOMEDCT:50189006", "medgen:4639"], "information_content": 90.9}
{"id": "MONDO:0010481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioedema", "equivalent_identifiers": ["MONDO:0010481", "DOID:1558", "EFO:0005532", "UMLS:C0002994", "MESH:D000799", "MEDDRA:10002394", "MEDDRA:10002424", "MEDDRA:10002425", "MEDDRA:10002426", "MEDDRA:10002471", "MEDDRA:10002473", "MEDDRA:10014212", "MEDDRA:10014254", "MEDDRA:10018257", "MEDDRA:10018259", "MEDDRA:10020198", "MEDDRA:10037734", "MEDDRA:10037735", "MEDDRA:10046744", "MEDDRA:10055912", "MEDDRA:10055936", "NCIT:C112175", "SNOMEDCT:400075008", "SNOMEDCT:846575004", "medgen:1543", "ICD10:T78.3", "HP:0100665"], "information_content": 79.6}
{"id": "UniProtKB:Q9H098-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM107B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H098-2", "PR:Q9H098-2", "ENSEMBL:ENSP00000181796", "ENSEMBL:ENSP00000181796.2"], "information_content": 100.0}
{"id": "MONDO:0030883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carpal tunnel syndrome 2", "equivalent_identifiers": ["MONDO:0030883", "DOID:0070467", "OMIM:619161", "UMLS:C5436916", "medgen:1725962"], "information_content": 100.0}
{"id": "MONDO:0010775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa-deafness syndrome", "equivalent_identifiers": ["MONDO:0010775", "DOID:0110829", "OMIM:500004", "UMLS:C5779620", "SNOMEDCT:57838006", "medgen:1830314"], "information_content": 100.0}
{"id": "UniProtKB:Q14004-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14004-1", "PR:Q14004-1", "ENSEMBL:ENSP00000181839", "ENSEMBL:ENSP00000181839.4"], "information_content": 100.0}
{"id": "MONDO:0044302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder", "equivalent_identifiers": ["MONDO:0044302", "DOID:0112247", "OMIM:617360", "orphanet:646278", "UMLS:C4479246", "medgen:1385307"], "information_content": 100.0}
{"id": "MONDO:0800438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 1", "equivalent_identifiers": ["MONDO:0800438", "DOID:0070477", "OMIM:616901", "orphanet:459061"], "information_content": 100.0}
{"id": "MONDO:0010408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndactyly-telecanthus-anogenital and renal malformations syndrome", "equivalent_identifiers": ["MONDO:0010408", "DOID:0111931", "OMIM:300707", "orphanet:140952", "UMLS:C2678045", "MESH:C567475", "SNOMEDCT:723581006", "medgen:394424"], "information_content": 100.0}
{"id": "MONDO:0016512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kabuki syndrome", "equivalent_identifiers": ["MONDO:0016512", "DOID:0060473", "OMIM.PS:147920", "orphanet:2322", "UMLS:C0796004", "MESH:C537705", "MEDDRA:10063935", "MEDDRA:10063936", "NCIT:C124837", "SNOMEDCT:313426007", "medgen:162897", "icd11.foundation:1104246467"], "information_content": 92.8}
{"id": "UniProtKB:Q96QS1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetraspanin-32 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QS1-1", "PR:Q96QS1-1", "ENSEMBL:ENSP00000182290", "ENSEMBL:ENSP00000182290.5"], "information_content": 100.0}
{"id": "NCBIGene:9697", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRAM2", "equivalent_identifiers": ["NCBIGene:9697", "ENSEMBL:ENSG00000065308", "HGNC:16855", "OMIM:608485", "UMLS:C1424596", "UniProtKB:A0A024RD84", "UMLS:C1434934", "MESH:C486173", "UniProtKB:Q15035", "PR:Q15035", "ENSEMBL:ENSP00000182527", "ENSEMBL:ENSP00000182527.3"], "information_content": 89.4}
{"id": "MONDO:0014811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar atrophy, visual impairment, and psychomotor retardation;", "equivalent_identifiers": ["MONDO:0014811", "DOID:0081276", "OMIM:616875", "UMLS:C4225172", "medgen:905041"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAT0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ropporin-1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAT0-1", "PR:Q9HAT0-1", "ENSEMBL:ENSP00000184183", "ENSEMBL:ENSP00000184183.4", "ENSEMBL:ENSP00000385919", "ENSEMBL:ENSP00000385919.3", "ENSEMBL:ENSP00000483603", "ENSEMBL:ENSP00000483603.1"], "information_content": 100.0}
{"id": "MONDO:0005884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "opisthorchiasis", "equivalent_identifiers": ["MONDO:0005884", "DOID:13768", "EFO:0007404", "UMLS:C0029106", "MESH:D009889", "MEDDRA:10030897", "SNOMEDCT:1059007", "medgen:10453", "icd11.foundation:1401769984", "ICD10:B66.0", "ICD9:121.0"], "information_content": 100.0}
{"id": "UniProtKB:O95168-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95168-1", "PR:O95168-1", "ENSEMBL:ENSP00000184266", "ENSEMBL:ENSP00000184266.2"], "information_content": 100.0}
{"id": "MONDO:0013306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 7", "equivalent_identifiers": ["MONDO:0013306", "DOID:0111487", "OMIM:613559", "orphanet:254930", "UMLS:C3150801", "SNOMEDCT:763204003", "medgen:462151"], "information_content": 100.0}
{"id": "MONDO:0017338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fatal multiple mitochondrial dysfunctions syndrome", "equivalent_identifiers": ["MONDO:0017338", "DOID:0070330", "OMIM.PS:605711", "orphanet:289573", "UMLS:C3502075", "MESH:C565304", "SNOMEDCT:720827002", "medgen:502474"], "information_content": 84.8}
{"id": "NCBIGene:63897", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HEATR6", "equivalent_identifiers": ["NCBIGene:63897", "ENSEMBL:ENSG00000068097", "HGNC:24076", "UMLS:C2239513", "UniProtKB:Q6AI08", "PR:Q6AI08", "ENSEMBL:ENSP00000184956", "ENSEMBL:ENSP00000184956.5"], "information_content": 92.8}
{"id": "UniProtKB:Q96DZ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endoplasmic reticulum lectin 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DZ1-1", "PR:Q96DZ1-1", "ENSEMBL:ENSP00000185150", "ENSEMBL:ENSP00000185150.4"], "information_content": 100.0}
{"id": "MONDO:0014198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 13", "equivalent_identifiers": ["MONDO:0014198", "DOID:0080131", "OMIM:615471", "orphanet:369897", "UMLS:C3809592", "NCIT:C172095", "SNOMEDCT:765403009", "medgen:815922"], "information_content": 92.8}
{"id": "UniProtKB:Q9NZA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chloride intracellular channel protein 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZA1-1", "PR:Q9NZA1-1", "ENSEMBL:ENSP00000185206", "ENSEMBL:ENSP00000185206.6"], "information_content": 100.0}
{"id": "MONDO:0003452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cochlear disorder", "equivalent_identifiers": ["MONDO:0003452", "DOID:5463", "UMLS:C0009197", "MESH:D015834", "medgen:1023"], "information_content": 100.0}
{"id": "NCBIGene:23505", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM131", "equivalent_identifiers": ["NCBIGene:23505", "ENSEMBL:ENSG00000075568", "HGNC:30366", "OMIM:615659", "UMLS:C1823390", "UniProtKB:Q92545", "PR:Q92545", "ENSEMBL:ENSP00000186436", "ENSEMBL:ENSP00000186436.5", "ENSEMBL:ENSP00000517074", "ENSEMBL:ENSP00000517074.1"], "information_content": 85.5}
{"id": "MONDO:0005025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endocarditis", "equivalent_identifiers": ["MONDO:0005025", "DOID:10314", "EFO:0000465", "UMLS:C0014118", "UMLS:C0375268", "MESH:D004696", "MEDDRA:10000729", "MEDDRA:10014665", "MEDDRA:10014681", "MEDDRA:10049001", "NCIT:C34582", "NCIT:C35432", "SNOMEDCT:56819008", "SNOMEDCT:91357005", "medgen:4940", "ICD10:I33.9", "ICD9:421.9", "HP:0100584"], "information_content": 82.1}
{"id": "MONDO:0006984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subdural empyema", "equivalent_identifiers": ["MONDO:0006984", "DOID:11389", "EFO:1001196", "UMLS:C0038539", "UMLS:C5970472", "MESH:D013354", "MEDDRA:10042360", "MEDDRA:10083083", "SNOMEDCT:1342321009", "SNOMEDCT:37660004", "medgen:52531"], "information_content": 100.0}
{"id": "NCBIGene:79041", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM38A", "equivalent_identifiers": ["NCBIGene:79041", "ENSEMBL:ENSG00000072954", "HGNC:28462", "OMIM:611235", "UMLS:C1540008", "UniProtKB:Q9H6F2", "PR:Q9H6F2", "ENSEMBL:ENSP00000187762", "ENSEMBL:ENSP00000187762.1", "UMLS:C5433836", "MESH:C000709040"], "information_content": 100.0}
{"id": "MONDO:0016830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Emery-Dreifuss muscular dystrophy", "equivalent_identifiers": ["MONDO:0016830", "DOID:11726", "OMIM.PS:310300", "orphanet:261", "UMLS:C0410189", "MESH:D020389", "MEDDRA:10081544", "NCIT:C84685", "SNOMEDCT:111508004", "medgen:96078", "icd11.foundation:749295636"], "information_content": 82.6}
{"id": "MONDO:0007783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant hyperthermia, susceptibility to, 1", "equivalent_identifiers": ["MONDO:0007783", "DOID:0080990", "OMIM:145600", "EFO:0009071", "UMLS:C2930980", "MESH:C535694", "medgen:443948"], "information_content": 100.0}
{"id": "MONDO:0008974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HEM dysplasia", "equivalent_identifiers": ["MONDO:0008974", "DOID:0111588", "OMIM:215140", "orphanet:1426", "UMLS:C2931048", "MESH:C535858", "SNOMEDCT:389261002", "medgen:418969", "icd11.foundation:1858458540"], "information_content": 100.0}
{"id": "MONDO:0032849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies", "equivalent_identifiers": ["MONDO:0032849", "DOID:0070539", "OMIM:618651", "EFO:0010662", "UMLS:C5231442", "medgen:1684884"], "information_content": 100.0}
{"id": "UniProtKB:Q12884-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prolyl endopeptidase FAP isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12884-1", "PR:Q12884-1", "ENSEMBL:ENSP00000188790", "ENSEMBL:ENSP00000188790.4"], "information_content": 100.0}
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{"id": "MONDO:0002347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "barbiturate dependence", "equivalent_identifiers": ["MONDO:0002347", "DOID:2575", "UMLS:C0154482", "UMLS:C0338767", "MEDDRA:10004103", "MEDDRA:10012340", "MEDDRA:10013667", "SNOMEDCT:231472009", "medgen:572756", "ICD9:304.11"], "information_content": 100.0}
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{"id": "MONDO:0007181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "axial osteomalacia", "equivalent_identifiers": ["MONDO:0007181", "DOID:0080039", "OMIM:109130", "UMLS:C1862372", "MESH:C537791", "medgen:354730"], "information_content": 100.0}
{"id": "MONDO:0001414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteopoikilosis", "equivalent_identifiers": ["MONDO:0001414", "DOID:11991", "UMLS:C0029455", "MESH:D010023", "MEDDRA:10031281", "NCIT:C84985", "SNOMEDCT:9147009", "medgen:45251", "icd11.foundation:801926378", "ICD10:Q78.8", "ICD9:756.53", "HP:0010739"], "information_content": 95.4}
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{"id": "MONDO:0015465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniometaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0015465", "DOID:0080033", "OMIM.PS:123000", "orphanet:1522", "UMLS:C0265292", "MESH:C537519", "SNOMEDCT:36601008", "medgen:82702", "icd11.foundation:305860050"], "information_content": 89.4}
{"id": "MONDO:0000849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrogenesis imperfecta ossium", "equivalent_identifiers": ["MONDO:0000849", "DOID:0080040"], "information_content": 100.0}
{"id": "MONDO:0008157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Buschke-Ollendorff syndrome", "equivalent_identifiers": ["MONDO:0008157", "DOID:0111536", "OMIM:166700", "UMLS:C0265514", "UMLS:C3149399", "MESH:C537415", "MEDDRA:10056289", "MEDDRA:10056878", "SNOMEDCT:60399005", "medgen:120545", "icd11.foundation:1556522143"], "information_content": 100.0}
{"id": "MONDO:0008275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial expansile osteolysis", "equivalent_identifiers": ["MONDO:0008275", "DOID:0111542", "OMIM:174810", "orphanet:85195", "UMLS:C0432292", "MESH:C536335", "SNOMEDCT:254153009", "medgen:96593", "icd11.foundation:1161028858"], "information_content": 100.0}
{"id": "NCBIGene:50939", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IMPG2", "equivalent_identifiers": ["NCBIGene:50939", "ENSEMBL:ENSG00000081148", "HGNC:18362", "OMIM:607056", "UMLS:C1425472", "UniProtKB:F1T0J3", "UMLS:C0960330", "MESH:C412522", "UniProtKB:Q9BZV3", "PR:Q9BZV3", "ENSEMBL:ENSP00000193391", "ENSEMBL:ENSP00000193391.6"], "information_content": 95.4}
{"id": "MONDO:0014185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 3q13.31 deletion syndrome", "equivalent_identifiers": ["MONDO:0014185", "DOID:0060418", "OMIM:615433", "orphanet:1621", "UMLS:C2931338", "UMLS:C3809490", "MESH:C536808", "SNOMEDCT:726705007", "medgen:815820"], "information_content": 100.0}
{"id": "MONDO:0010263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AMME complex", "equivalent_identifiers": ["MONDO:0010263", "DOID:0111860", "OMIM:300194", "orphanet:86818", "UMLS:C1846242", "MESH:C564570", "SNOMEDCT:720982007", "medgen:337424"], "information_content": 95.4}
{"id": "MONDO:0018301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interstitial cystitis", "equivalent_identifiers": ["MONDO:0018301", "DOID:13949", "DOID:1678", "orphanet:37202", "EFO:0008507", "EFO:1000869", "UMLS:C0282488", "UMLS:C0600040", "MESH:D018856", "MEDDRA:10008927", "MEDDRA:10008928", "MEDDRA:10011796", "MEDDRA:10011801", "NCIT:C27189", "SNOMEDCT:111409009", "SNOMEDCT:197834003", "medgen:129176", "icd11.foundation:1650709285", "ICD10:N30.1", "ICD9:595.1"], "information_content": 100.0}
{"id": "MONDO:0009257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "galactose epimerase deficiency", "equivalent_identifiers": ["MONDO:0009257", "DOID:0111458", "OMIM:230350", "orphanet:79238", "UMLS:C0751161", "SNOMEDCT:8849004", "medgen:199598"], "information_content": 92.8}
{"id": "MONDO:0004885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroidal sclerosis", "equivalent_identifiers": ["MONDO:0004885", "DOID:980", "UMLS:C0344297", "MESH:C535358", "MEDDRA:10008781", "MEDDRA:10052486", "SNOMEDCT:247199007", "SNOMEDCT:406446000", "medgen:137998", "ICD10:H31.10", "ICD9:363.4"], "information_content": 87.2}
{"id": "MONDO:0006843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular holes", "equivalent_identifiers": ["MONDO:0006843", "DOID:7633", "EFO:1001028", "UMLS:C0024441", "MEDDRA:10051058", "NCIT:C34795", "SNOMEDCT:232006002", "medgen:6176", "HP:0011508"], "information_content": 95.4}
{"id": "NCBIGene:6561", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC13A1", "equivalent_identifiers": ["NCBIGene:6561", "ENSEMBL:ENSG00000081800", "HGNC:10916", "OMIM:606193", "UMLS:C1420096", "UniProtKB:A4D0X1", "UMLS:C4742076", "MESH:C000624619", "UniProtKB:Q2NKK0", "UniProtKB:Q9BZW2", "PR:Q9BZW2", "ENSEMBL:ENSP00000194130", "ENSEMBL:ENSP00000194130.2"], "information_content": 95.4}
{"id": "NCBIGene:56131", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCDHB4", "equivalent_identifiers": ["NCBIGene:56131", "ENSEMBL:ENSG00000081818", "HGNC:8689", "OMIM:606330", "UMLS:C1418338", "UniProtKB:Q9Y5E5", "PR:Q9Y5E5", "ENSEMBL:ENSP00000194152", "ENSEMBL:ENSP00000194152.1", "ENSEMBL:ENSP00000517186", "ENSEMBL:ENSP00000517186.1"], "information_content": 100.0}
{"id": "MONDO:0016033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornelia de Lange syndrome", "equivalent_identifiers": ["MONDO:0016033", "DOID:11725", "OMIM.PS:122470", "orphanet:199", "UMLS:C0270972", "MESH:D003635", "MEDDRA:10056354", "MEDDRA:10077707", "NCIT:C75016", "medgen:78752", "icd11.foundation:1801560012"], "information_content": 87.2}
{"id": "NCBIGene:56133", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCDHB2", "equivalent_identifiers": ["NCBIGene:56133", "ENSEMBL:ENSG00000112852", "HGNC:8687", "OMIM:606328", "UMLS:C1418336", "UniProtKB:Q4KMG6", "UniProtKB:Q9Y5E7", "PR:Q9Y5E7", "ENSEMBL:ENSP00000194155", "ENSEMBL:ENSP00000194155.4", "ENSEMBL:ENSP00000517180", "ENSEMBL:ENSP00000517180.1"], "information_content": 100.0}
{"id": "MONDO:0008031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facioscapulohumeral muscular dystrophy 2", "equivalent_identifiers": ["MONDO:0008031", "DOID:0111193", "OMIM:158901", "UMLS:C1834671", "UMLS:C3837602", "MESH:C563557", "NCIT:C172705", "medgen:320405"], "information_content": 100.0}
{"id": "NCBIGene:51668", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFT25", "equivalent_identifiers": ["NCBIGene:51668", "ENSEMBL:ENSG00000081870", "HGNC:25019", "OMIM:620841", "UMLS:C1538981", "UniProtKB:Q9Y547", "PR:Q9Y547", "ENSEMBL:ENSP00000194214", "ENSEMBL:ENSP00000194214.5", "UMLS:C2003582", "MESH:C525841", "UniProtKB:X6R7Y7", "ENSEMBL:ENSP00000360429", "ENSEMBL:ENSP00000360429.2"], "information_content": 95.4}
{"id": "MONDO:0018770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jeune syndrome", "equivalent_identifiers": ["MONDO:0018770", "DOID:0050592", "OMIM.PS:208500", "orphanet:474", "UMLS:C0265275", "MESH:C537571", "MEDDRA:10057621", "MEDDRA:10057642", "NCIT:C84794", "SNOMEDCT:75049004", "medgen:78548", "icd11.foundation:554018956", "ICD10:Q77.2"], "information_content": 78.8}
{"id": "MONDO:0002473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kidney Cyst", "equivalent_identifiers": ["MONDO:0002473", "DOID:2975", "EFO:0008615", "EFO:1000313", "UMLS:C0022679", "UMLS:C1691228", "UMLS:C3887499", "MESH:D052177", "MEDDRA:10011744", "MEDDRA:10011771", "MEDDRA:10011772", "MEDDRA:10038423", "MEDDRA:10038424", "MEDDRA:10038426", "MEDDRA:10080115", "NCIT:C34750", "NCIT:C3970", "SNOMEDCT:722223000", "medgen:854361", "HP:0000107"], "information_content": 73.2}
{"id": "MONDO:0009032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranioectodermal dysplasia", "equivalent_identifiers": ["MONDO:0009032", "DOID:0050577", "OMIM.PS:218330", "orphanet:1515", "UMLS:C4551571", "MEDDRA:10089188", "MEDDRA:10089189", "NCIT:C129305", "SNOMEDCT:254093009", "medgen:1641011", "icd11.foundation:1588881145"], "information_content": 87.2}
{"id": "MONDO:0009162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ellis-van Creveld syndrome", "equivalent_identifiers": ["MONDO:0009162", "DOID:12714", "OMIM:225500", "orphanet:289", "UMLS:C0013903", "MESH:D004613", "MEDDRA:10008724", "MEDDRA:10076418", "NCIT:C84684", "SNOMEDCT:62501005", "medgen:8584", "ICD10:Q77.6", "ICD9:756.55"], "information_content": 95.4}
{"id": "MONDO:0015375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome", "equivalent_identifiers": ["MONDO:0015375", "DOID:4501", "OMIM.PS:311200", "orphanet:140997", "UMLS:C0029294", "MESH:D009958", "SNOMEDCT:52868006", "medgen:14518", "icd11.foundation:1405407847"], "information_content": 80.2}
{"id": "MONDO:0010024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beemer-Langer syndrome", "equivalent_identifiers": ["MONDO:0010024", "DOID:9249", "OMIM:269860", "orphanet:93268", "UMLS:C0432198", "MESH:C537599", "SNOMEDCT:254052001", "medgen:96578"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0K7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "STE20-related kinase adapter protein beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0K7-1", "PR:Q9C0K7-1", "ENSEMBL:ENSP00000194530", "ENSEMBL:ENSP00000194530.3"], "information_content": 100.0}
{"id": "MONDO:0006939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyelonephritis", "equivalent_identifiers": ["MONDO:0006939", "DOID:11400", "EFO:1001141", "UMLS:C0034186", "MESH:D011704", "MEDDRA:10037596", "MEDDRA:10037604", "MEDDRA:10037606", "NCIT:C34965", "SNOMEDCT:45816000", "medgen:19590", "ICD10:N16", "ICD9:590.80", "HP:0012330"], "information_content": 89.4}
{"id": "MONDO:0012611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy", "equivalent_identifiers": ["MONDO:0012611", "DOID:0070511", "OMIM:611087", "orphanet:500533", "UMLS:C1970203", "MESH:C567020", "SNOMEDCT:1167371007", "medgen:370203"], "information_content": 100.0}
{"id": "UniProtKB:Q02809-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02809-1", "PR:Q02809-1", "ENSEMBL:ENSP00000196061", "ENSEMBL:ENSP00000196061.4"], "information_content": 100.0}
{"id": "MONDO:0017195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bruck syndrome", "equivalent_identifiers": ["MONDO:0017195", "DOID:0060231", "OMIM.PS:259450", "orphanet:2771", "UMLS:C0432253", "MEDDRA:10063718", "SNOMEDCT:254113006", "medgen:609420", "icd11.foundation:1783996418", "ICD10:M21.8"], "information_content": 92.8}
{"id": "MONDO:0007363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital contractural arachnodactyly", "equivalent_identifiers": ["MONDO:0007363", "DOID:0111595", "OMIM:121050", "orphanet:115", "UMLS:C0220668", "MESH:C536211", "NCIT:C129865", "SNOMEDCT:205821003", "medgen:67391", "icd11.foundation:1376425921"], "information_content": 100.0}
{"id": "UniProtKB:P55809-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P55809-1", "PR:P55809-1", "ENSEMBL:ENSP00000196371", "ENSEMBL:ENSP00000196371.5"], "information_content": 100.0}
{"id": "MONDO:0019340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scleroderma", "equivalent_identifiers": ["MONDO:0019340", "DOID:419", "orphanet:801", "EFO:1001993", "UMLS:C0011644", "UMLS:C1274865", "MEDDRA:10012517", "MEDDRA:10039710", "NCIT:C26746", "SNOMEDCT:267874003", "SNOMEDCT:403524003", "medgen:3770", "HP:0100324"], "information_content": 81.7}
{"id": "MONDO:0006767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric antral vascular ectasia", "equivalent_identifiers": ["MONDO:0006767", "DOID:2493", "EFO:1000945", "UMLS:C0267211", "MESH:C538665", "MESH:D020252", "MEDDRA:10051585", "MEDDRA:10090114", "NCIT:C84724", "SNOMEDCT:43935004", "medgen:82753"], "information_content": 100.0}
{"id": "MONDO:0004884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eye degenerative disorder", "equivalent_identifiers": ["MONDO:0004884", "DOID:9799", "UMLS:C0154777", "MEDDRA:10012169", "MEDDRA:10015914", "MEDDRA:10061127", "SNOMEDCT:62585004", "medgen:509655", "ICD10:H44.5", "ICD9:360.4"], "information_content": 73.6}
{"id": "NCBIGene:57613", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM234B", "equivalent_identifiers": ["NCBIGene:57613", "ENSEMBL:ENSG00000084444", "HGNC:29288", "OMIM:617838", "UMLS:C4084692", "UniProtKB:A2RU67", "PR:A2RU67", "ENSEMBL:ENSP00000197268", "ENSEMBL:ENSP00000197268.8", "ENSEMBL:ENSP00000394063", "ENSEMBL:ENSP00000394063.2"], "information_content": 100.0}
{"id": "MONDO:0009033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "temtamy syndrome", "equivalent_identifiers": ["MONDO:0009033", "DOID:0111621", "OMIM:218340", "orphanet:1777", "UMLS:C1857512", "MESH:C536959", "NCIT:C148371", "SNOMEDCT:719947004", "medgen:347474"], "information_content": 100.0}
{"id": "MONDO:0009406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cantu syndrome", "equivalent_identifiers": ["MONDO:0009406", "DOID:0060569", "OMIM:239850", "orphanet:1517", "UMLS:C0795905", "MESH:C535572", "SNOMEDCT:239087008", "medgen:208647"], "information_content": 100.0}
{"id": "MONDO:0013885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malan overgrowth syndrome", "equivalent_identifiers": ["MONDO:0013885", "DOID:0112102", "OMIM:614753", "orphanet:420179", "UMLS:C3553660", "SNOMEDCT:763795006", "medgen:766574"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paired immunoglobulin-like type 2 receptor alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKJ1-1", "PR:Q9UKJ1-1", "ENSEMBL:ENSP00000198536", "ENSEMBL:ENSP00000198536.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYV6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA polymerase I-specific transcription initiation factor RRN3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYV6-1", "PR:Q9NYV6-1", "ENSEMBL:ENSP00000198767", "ENSEMBL:ENSP00000198767.7", "ENSEMBL:ENSP00000480743", "ENSEMBL:ENSP00000480743.1"], "information_content": 100.0}
{"id": "MONDO:0002457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Treacher-Collins syndrome", "equivalent_identifiers": ["MONDO:0002457", "DOID:2908", "OMIM.PS:154500", "orphanet:861", "UMLS:C0242387", "MEDDRA:10044554", "MEDDRA:10051456", "MEDDRA:10051464", "NCIT:C75018", "SNOMEDCT:62767009", "SNOMEDCT:82203000", "medgen:66078", "icd11.foundation:969026676", "ICD10:Q75.4", "HP:0005321"], "information_content": 89.4}
{"id": "MONDO:0001705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pure red-cell aplasia", "equivalent_identifiers": ["MONDO:0001705", "DOID:1340", "UMLS:C0034902", "MESH:D012010", "MEDDRA:10002965", "MEDDRA:10002966", "MEDDRA:10038184", "NCIT:C34974", "SNOMEDCT:50715003", "medgen:11154", "HP:0012410"], "information_content": 78.8}
{"id": "MONDO:0009833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shwachman-Diamond syndrome", "equivalent_identifiers": ["MONDO:0009833", "DOID:0060479", "OMIM.PS:260400", "orphanet:811", "UMLS:C0272170", "MESH:C537330", "MESH:D000081003", "MEDDRA:10067940", "NCIT:C61235", "SNOMEDCT:89454001", "medgen:124418", "icd11.foundation:232885463", "ICD10:D61.0"], "information_content": 89.4}
{"id": "UniProtKB:Q3SYC2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-acylglycerol O-acyltransferase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q3SYC2-1", "PR:Q3SYC2-1", "ENSEMBL:ENSP00000198801", "ENSEMBL:ENSP00000198801.5"], "information_content": 100.0}
{"id": "MONDO:0004790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fatty Liver", "equivalent_identifiers": ["MONDO:0004790", "DOID:9452", "UMLS:C0015695", "UMLS:C2711227", "MESH:D005234", "MEDDRA:10012147", "MEDDRA:10016261", "MEDDRA:10016263", "MEDDRA:10016264", "MEDDRA:10019708", "MEDDRA:10021947", "MEDDRA:10024680", "MEDDRA:10024681", "MEDDRA:10024682", "MEDDRA:10024685", "MEDDRA:10024686", "MEDDRA:10027442", "MEDDRA:10041970", "MEDDRA:10076331", "NCIT:C150596", "SNOMEDCT:197321007", "SNOMEDCT:442191002", "medgen:398225", "ICD10:K70.0", "ICD9:571.0", "HP:0001397"], "information_content": 83.6}
{"id": "NCBIGene:359", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AQP2", "equivalent_identifiers": ["NCBIGene:359", "ENSEMBL:ENSG00000167580", "HGNC:634", "OMIM:107777", "UMLS:C1412492", "UniProtKB:P41181", "PR:P41181", "ENSEMBL:ENSP00000199280", "ENSEMBL:ENSP00000199280.3", "UMLS:C0253002", "MESH:C496023"], "information_content": 92.8}
{"id": "MONDO:0006802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inappropriate ADH syndrome", "equivalent_identifiers": ["MONDO:0006802", "DOID:3401", "EFO:1000982", "UMLS:C0021141", "MESH:D007177", "MEDDRA:10001270", "MEDDRA:10001271", "MEDDRA:10021586", "MEDDRA:10021587", "MEDDRA:10021598", "MEDDRA:10040626", "MEDDRA:10042818", "MEDDRA:10053198", "MEDDRA:10071644", "MEDDRA:10087107", "NCIT:C3988", "SNOMEDCT:55004003", "medgen:5772", "ICD10:E22.2", "HP:0031218"], "information_content": 100.0}
{"id": "MONDO:0006692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central pontine myelinolysis", "equivalent_identifiers": ["MONDO:0006692", "DOID:636", "EFO:1000857", "UMLS:C0206083", "MESH:D017590", "MEDDRA:10007968", "MEDDRA:10007969", "NCIT:C84623", "SNOMEDCT:6807001", "medgen:64511", "icd11.foundation:558060012", "ICD10:G37.2"], "information_content": 100.0}
{"id": "MONDO:0016239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystinosis", "equivalent_identifiers": ["MONDO:0016239", "DOID:1064", "orphanet:213", "UMLS:C4316899", "MESH:D003554", "MEDDRA:10011777", "NCIT:C2976", "SNOMEDCT:190681003", "medgen:1384792", "icd11.foundation:733715856"], "information_content": 89.4}
{"id": "MONDO:0004585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyhydramnios", "equivalent_identifiers": ["MONDO:0004585", "DOID:8488", "UMLS:C0020224", "UMLS:C3888576", "MESH:D006831", "MEDDRA:10020486", "MEDDRA:10036079", "MEDDRA:10075867", "NCIT:C92848", "SNOMEDCT:86203003", "medgen:6936", "ICD10:O40", "ICD9:657.0", "HP:0001561"], "information_content": 100.0}
{"id": "MONDO:0007252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gordon syndrome", "equivalent_identifiers": ["MONDO:0007252", "DOID:0111607", "OMIM:114300", "orphanet:376", "UMLS:C0220666", "MESH:C537288", "SNOMEDCT:237850008", "SNOMEDCT:897570002", "medgen:66314"], "information_content": 100.0}
{"id": "DOID:0111145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ureteropelvic junction obstruction", "equivalent_identifiers": ["DOID:0111145"]}
{"id": "MONDO:0013005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EAST syndrome", "equivalent_identifiers": ["MONDO:0013005", "DOID:0060484", "OMIM:612780", "orphanet:199343", "UMLS:C2748572", "MESH:C557674", "SNOMEDCT:721207002", "medgen:411243"], "information_content": 100.0}
{"id": "MONDO:0006007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vesicoureteral reflux", "equivalent_identifiers": ["MONDO:0006007", "DOID:9620", "EFO:0007536", "UMLS:C0042580", "MESH:D014718", "MEDDRA:10046408", "MEDDRA:10047370", "MEDDRA:10047371", "NCIT:C84467", "SNOMEDCT:197811007", "medgen:21852", "icd11.foundation:2142055506", "ICD10:N13.7", "ICD9:593.7", "HP:0000076"], "information_content": 84.2}
{"id": "NCBIGene:27292", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DIMT1", "equivalent_identifiers": ["NCBIGene:27292", "ENSEMBL:ENSG00000086189", "HGNC:30217", "OMIM:612499", "UMLS:C1824936", "UniProtKB:A0A0C4DGB1", "ENSEMBL:ENSP00000421754", "ENSEMBL:ENSP00000421754.1", "UMLS:C4279491", "MESH:C000605619", "UniProtKB:A8K9K8", "UniProtKB:Q9UNQ2", "PR:Q9UNQ2", "ENSEMBL:ENSP00000199320", "ENSEMBL:ENSP00000199320.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9BQI3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 2-alpha kinase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQI3-1", "PR:Q9BQI3-1", "ENSEMBL:ENSP00000199389", "ENSEMBL:ENSP00000199389.6"], "information_content": 100.0}
{"id": "MONDO:0010010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schinzel-Giedion syndrome", "equivalent_identifiers": ["MONDO:0010010", "DOID:0070509", "OMIM:269150", "orphanet:798", "UMLS:C0265227", "MESH:C536632", "MEDDRA:10063540", "NCIT:C129308", "SNOMEDCT:18899000", "medgen:120517", "icd11.foundation:1542318431"], "information_content": 100.0}
{"id": "NCBIGene:51314", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NME8", "equivalent_identifiers": ["NCBIGene:51314", "ENSEMBL:ENSG00000086288", "HGNC:16473", "OMIM:607421", "UMLS:C1424308", "UniProtKB:Q8N427", "PR:Q8N427", "ENSEMBL:ENSP00000199447", "ENSEMBL:ENSP00000199447.4", "ENSEMBL:ENSP00000397063", "ENSEMBL:ENSP00000397063.1", "UMLS:C1121817", "MESH:C452260"], "information_content": 100.0}
{"id": "UniProtKB:Q9UM22-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mammalian ependymin-related protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UM22-1", "PR:Q9UM22-1", "ENSEMBL:ENSP00000199448", "ENSEMBL:ENSP00000199448.4"], "information_content": 100.0}
{"id": "MONDO:0001868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary angle-closure glaucoma", "equivalent_identifiers": ["MONDO:0001868", "DOID:1405", "EFO:1001506", "UMLS:C0017606", "MEDDRA:10036675", "MEDDRA:10036676", "SNOMEDCT:392288006", "medgen:42225", "ICD10:H40.2", "ICD9:365.2", "HP:0012109"], "information_content": 88.2}
{"id": "MONDO:0005338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "open-angle glaucoma", "equivalent_identifiers": ["MONDO:0005338", "DOID:1067", "DOID:1070", "EFO:0004190", "UMLS:C0017612", "UMLS:C0311339", "UMLS:C1411998", "MESH:D005902", "MEDDRA:10030348", "MEDDRA:10030349", "MEDDRA:10030856", "MEDDRA:10030857", "MEDDRA:10035015", "MEDDRA:10071290", "NCIT:C34641", "SNOMEDCT:111513000", "SNOMEDCT:46168003", "SNOMEDCT:84494001", "medgen:6611", "ICD10:H40.1", "ICD10:H40.11", "ICD9:365.1", "ICD9:365.11"], "information_content": 82.1}
{"id": "MONDO:0008327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exfoliation syndrome", "equivalent_identifiers": ["MONDO:0008327", "DOID:13641", "EFO:0004235", "UMLS:C0206368", "UMLS:C0311341", "MESH:D017889", "MEDDRA:10037118", "MEDDRA:10037119", "MEDDRA:10072713", "MEDDRA:10074026", "MEDDRA:10074027", "NCIT:C129025", "SNOMEDCT:111514006", "SNOMEDCT:44219007", "medgen:60133", "ICD9:365.52"], "information_content": 95.4}
{"id": "NCBIGene:3049", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HBQ1", "equivalent_identifiers": ["NCBIGene:3049", "ENSEMBL:ENSG00000086506", "HGNC:4833", "OMIM:142240", "UMLS:C1415487", "UniProtKB:A0A1K0GUV5", "UniProtKB:P09105", "PR:P09105", "ENSEMBL:ENSP00000199708", "ENSEMBL:ENSP00000199708.2", "UMLS:C2827571"], "information_content": 88.2}
{"id": "MONDO:0017319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elliptocytosis", "equivalent_identifiers": ["MONDO:0017319", "DOID:2373", "orphanet:288", "UMLS:C0013902", "UMLS:C0427480", "MESH:D004612", "MEDDRA:10014489", "MEDDRA:10014490", "MEDDRA:10014491", "MEDDRA:10019877", "MEDDRA:10033118", "NCIT:C3004", "NCIT:C35882", "NCIT:C36293", "SNOMEDCT:178935009", "SNOMEDCT:250242004", "medgen:41747", "icd11.foundation:679955609", "ICD10:D58.1", "ICD9:282.1", "HP:0004445"], "information_content": 88.2}
{"id": "NCBIGene:4680", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEACAM6", "equivalent_identifiers": ["NCBIGene:4680", "ENSEMBL:ENSG00000086548", "HGNC:1818", "OMIM:163980", "UMLS:C1413309", "UniProtKB:P40199", "PR:P40199", "ENSEMBL:ENSP00000199764", "ENSEMBL:ENSP00000199764.6", "UMLS:C0376900", "MESH:C504117"], "information_content": 95.4}
{"id": "NCBIGene:3294", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSD17B2", "equivalent_identifiers": ["NCBIGene:3294", "ENSEMBL:ENSG00000086696", "HGNC:5211", "OMIM:109685", "UMLS:C1333926", "UniProtKB:P37059", "PR:P37059", "ENSEMBL:ENSP00000199936", "ENSEMBL:ENSP00000199936.4", "UMLS:C2002897", "MESH:C523763"], "information_content": 92.8}
{"id": "DOID:14336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "estrogen excess", "equivalent_identifiers": ["DOID:14336", "EFO:0009004", "UMLS:C0154209", "MEDDRA:10020624", "MEDDRA:10020689", "NCIT:C113344", "SNOMEDCT:37295009", "ICD10:E28.0", "ICD9:256.0"], "information_content": 100.0}
{"id": "MONDO:0008487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Androgen excess", "equivalent_identifiers": ["MONDO:0008487", "DOID:11612", "DOID:11613", "OMIM:184700", "EFO:0000660", "EFO:0009006", "UMLS:C0032460", "UMLS:C0206081", "UMLS:C0235461", "UMLS:C1136382", "UMLS:C1295651", "MESH:D011085", "MESH:D017588", "MEDDRA:10036049", "MEDDRA:10036050", "MEDDRA:10041971", "MEDDRA:10065161", "MEDDRA:10065597", "MEDDRA:10073188", "MEDDRA:10073199", "NCIT:C113215", "NCIT:C26862", "SNOMEDCT:131074001", "SNOMEDCT:237055002", "SNOMEDCT:237793004", "SNOMEDCT:69878008", "SNOMEDCT:781067001", "medgen:10836", "icd11.foundation:1213633323", "ICD10:E28.2", "ICD9:256.4", "HP:0000147"], "information_content": 90.9}
{"id": "UniProtKB:O43264-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centromere/kinetochore protein zw10 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43264-1", "PR:O43264-1", "ENSEMBL:ENSP00000200135", "ENSEMBL:ENSP00000200135.3"], "information_content": 100.0}
{"id": "MONDO:0016649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Warburg micro syndrome", "equivalent_identifiers": ["MONDO:0016649", "DOID:0060237", "OMIM.PS:600118", "orphanet:2510", "UMLS:C5442005", "SNOMEDCT:772224009", "medgen:1781286"], "information_content": 89.4}
{"id": "MONDO:0100253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Roberts-SC phocomelia syndrome", "equivalent_identifiers": ["MONDO:0100253", "DOID:5325", "OMIM:268300", "orphanet:3103", "UMLS:C0392475", "MESH:C535687", "MEDDRA:10084326", "MEDDRA:10084330", "NCIT:C126326", "NCIT:C4681", "SNOMEDCT:48718006", "medgen:95931"], "information_content": 95.4}
{"id": "UniProtKB:P16144-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin beta-4 isoform hBeta-4C (human)", "equivalent_identifiers": ["UniProtKB:P16144-1", "PR:P16144-1", "ENSEMBL:ENSP00000200181", "ENSEMBL:ENSP00000200181.3"], "information_content": 100.0}
{"id": "MONDO:0008260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kindler syndrome", "equivalent_identifiers": ["MONDO:0008260", "DOID:0060472", "OMIM:173650", "orphanet:2908", "UMLS:C0406557", "MESH:C536321", "MEDDRA:10087383", "MEDDRA:10087385", "SNOMEDCT:238836000", "medgen:96060", "icd11.foundation:726317303"], "information_content": 95.4}
{"id": "UniProtKB:O75807-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1 regulatory subunit 15A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75807-1", "PR:O75807-1", "ENSEMBL:ENSP00000200453", "ENSEMBL:ENSP00000200453.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15654-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thyroid receptor-interacting protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15654-1", "PR:Q15654-1", "ENSEMBL:ENSP00000200457", "ENSEMBL:ENSP00000200457.4"], "information_content": 100.0}
{"id": "MONDO:0019180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary hemorrhagic telangiectasia", "equivalent_identifiers": ["MONDO:0019180", "DOID:1270", "OMIM.PS:187300", "orphanet:774", "UMLS:C0039445", "MESH:D013683", "MEDDRA:10019883", "MEDDRA:10019887", "MEDDRA:10031132", "MEDDRA:10038554", "NCIT:C35064", "SNOMEDCT:21877004", "medgen:52657", "icd11.foundation:714406192", "ICD10:I78.0", "ICD9:448.0"], "information_content": 88.2}
{"id": "UniProtKB:O75078-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 11 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O75078-1", "PR:O75078-1", "ENSEMBL:ENSP00000200557", "ENSEMBL:ENSP00000200557.6"], "information_content": 100.0}
{"id": "MONDO:0015588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "limbic encephalitis", "equivalent_identifiers": ["MONDO:0015588", "DOID:0080741", "UMLS:C0338430", "MESH:D020363", "MEDDRA:10078012", "MEDDRA:10078013", "SNOMEDCT:230192003", "medgen:137895"], "information_content": 86.3}
{"id": "NCBIGene:6583", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC22A4", "equivalent_identifiers": ["NCBIGene:6583", "ENSEMBL:ENSG00000197208", "HGNC:10968", "OMIM:604190", "UMLS:C1420139", "UniProtKB:Q9H015", "PR:Q9H015", "ENSEMBL:ENSP00000200652", "ENSEMBL:ENSP00000200652.3", "UMLS:C1447622", "MESH:C109807"], "information_content": 95.4}
{"id": "MONDO:0008919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "systemic primary carnitine deficiency disease", "equivalent_identifiers": ["MONDO:0008919", "DOID:14365", "OMIM:212140", "orphanet:158", "UMLS:C0342788", "MESH:C536778", "MEDDRA:10088267", "NCIT:C98864", "SNOMEDCT:21764004", "medgen:90999", "ICD10:E71.41", "ICD9:277.81"], "information_content": 100.0}
{"id": "MONDO:0011661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 5", "equivalent_identifiers": ["MONDO:0011661", "DOID:0110889", "OMIM:606348", "UMLS:C1853438", "MESH:C565234", "medgen:342879"], "information_content": 100.0}
{"id": "MONDO:0009960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 1", "equivalent_identifiers": ["MONDO:0009960", "DOID:0110892", "OMIM:266600", "UMLS:C2675113"], "information_content": 100.0}
{"id": "UniProtKB:P11597-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cholesteryl ester transfer protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11597-1", "PR:P11597-1", "ENSEMBL:ENSP00000200676", "ENSEMBL:ENSP00000200676.3"], "information_content": 100.0}
{"id": "MONDO:0005150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age-related macular degeneration", "equivalent_identifiers": ["MONDO:0005150", "DOID:10871", "OMIM.PS:603075", "EFO:0001365", "UMLS:C0242383", "MEDDRA:10025410", "MEDDRA:10025411", "MEDDRA:10039982", "MEDDRA:10064930", "NCIT:C84391", "SNOMEDCT:267718000", "medgen:116576", "icd11.foundation:1514301548", "ICD10:H35.30", "ICD9:362.50"], "information_content": 80.6}
{"id": "MONDO:0007150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arcus senilis", "equivalent_identifiers": ["MONDO:0007150", "DOID:11342", "OMIM:107800", "EFO:1000818", "UMLS:C0003742", "UMLS:C0339268", "MESH:D001112", "MEDDRA:10003082", "MEDDRA:10058651", "MEDDRA:10086627", "SNOMEDCT:111522004", "SNOMEDCT:231924000", "SNOMEDCT:231925004", "medgen:8179", "icd11.foundation:2142011301", "ICD10:H18.41", "HP:0001084"], "information_content": 100.0}
{"id": "MONDO:0005417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wet macular degeneration", "equivalent_identifiers": ["MONDO:0005417", "DOID:10873", "EFO:0004683", "UMLS:C0271084", "UMLS:C2237660", "MESH:D057135", "MEDDRA:10015902", "MEDDRA:10062970", "MEDDRA:10067791", "MEDDRA:10071129", "MEDDRA:10075718", "SNOMEDCT:414173003", "medgen:389185", "ICD10:H35.32", "ICD9:362.52"], "information_content": 100.0}
{"id": "NCBIGene:4504", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT3", "equivalent_identifiers": ["NCBIGene:4504", "ENSEMBL:ENSG00000087250", "HGNC:7408", "OMIM:139255", "UMLS:C1334534", "UniProtKB:P25713", "PR:P25713", "ENSEMBL:ENSP00000200691", "ENSEMBL:ENSP00000200691.5", "UMLS:C0211547"], "information_content": 100.0}
{"id": "MONDO:0000158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hip dysplasia", "equivalent_identifiers": ["MONDO:0000158", "DOID:0060930", "OMIM.PS:142700", "EFO:1000648", "UMLS:C0431952", "UMLS:C3280020", "UMLS:C4551649", "UMLS:C4732734", "MESH:D000082602", "MEDDRA:10073767", "NCIT:C119752", "SNOMEDCT:52781008", "medgen:1640560", "HP:0001385"], "information_content": 90.9}
{"id": "MONDO:0005850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "milker's nodule", "equivalent_identifiers": ["MONDO:0005850", "DOID:8729", "EFO:0007370", "UMLS:C0026143", "UMLS:C0032870", "MESH:D011213", "MEDDRA:10033976", "MEDDRA:10033978", "MEDDRA:10037115", "MEDDRA:10053045", "SNOMEDCT:105630005", "SNOMEDCT:27240009", "medgen:44449", "ICD10:B08.04", "ICD9:051.9"], "information_content": 100.0}
{"id": "UniProtKB:Q92754-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor AP-2 gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92754-1", "PR:Q92754-1", "ENSEMBL:ENSP00000201031", "ENSEMBL:ENSP00000201031.2"], "information_content": 100.0}
{"id": "MONDO:0005081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preeclampsia", "equivalent_identifiers": ["MONDO:0005081", "DOID:10591", "OMIM.PS:189800", "orphanet:275555", "EFO:0000668", "UMLS:C0032914", "MESH:D011225", "MEDDRA:10036485", "MEDDRA:10036492", "MEDDRA:10036493", "MEDDRA:10074050", "MEDDRA:10089264", "NCIT:C85021", "SNOMEDCT:398254007", "medgen:18608", "ICD10:O14", "HP:0100602"], "information_content": 85.5}
{"id": "UniProtKB:O00204-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sulfotransferase 2B1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00204-1", "PR:O00204-1", "ENSEMBL:ENSP00000201586", "ENSEMBL:ENSP00000201586.2"], "information_content": 100.0}
{"id": "MONDO:0019269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ichthyosis", "equivalent_identifiers": ["MONDO:0019269", "DOID:1697", "orphanet:79354", "UMLS:C0020757", "MESH:D007057", "MEDDRA:10021197", "MEDDRA:10021198", "MEDDRA:10040812", "NCIT:C84776", "SNOMEDCT:782957005", "medgen:7002", "HP:0008064"], "information_content": 72.3}
{"id": "MONDO:0002043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectropion", "equivalent_identifiers": ["MONDO:0002043", "DOID:1570", "UMLS:C0013592", "MESH:D004483", "MEDDRA:10014179", "MEDDRA:10014180", "MEDDRA:10014183", "MEDDRA:10015892", "MEDDRA:10085757", "SNOMEDCT:127559009", "SNOMEDCT:62909004", "medgen:4448", "ICD10:H02.1", "ICD9:374.1", "HP:0000656"], "information_content": 83.6}
{"id": "MONDO:0100296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Olmsted syndrome 1", "equivalent_identifiers": ["MONDO:0100296", "DOID:0112013", "OMIM:614594", "UMLS:C5542829", "medgen:1778121"], "information_content": 100.0}
{"id": "UniProtKB:Q8TE68-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epidermal growth factor receptor kinase substrate 8-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TE68-1", "PR:Q8TE68-1", "ENSEMBL:ENSP00000201647", "ENSEMBL:ENSP00000201647.5"], "information_content": 100.0}
{"id": "MONDO:0008824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fetal akinesia", "equivalent_identifiers": ["MONDO:0008824", "DOID:0111375", "OMIM.PS:208150", "UMLS:C0265228", "UMLS:C1276035", "UMLS:C3151520", "UMLS:C5442080", "MESH:C536647", "NCIT:C129071", "NCIT:C99008", "SNOMEDCT:401138005", "HP:0001989"], "information_content": 88.2}
{"id": "NCBIGene:28954", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "REM1", "equivalent_identifiers": ["NCBIGene:28954", "ENSEMBL:ENSG00000088320", "HGNC:15922", "OMIM:610388", "UMLS:C1538825", "UniProtKB:O75628", "PR:O75628", "ENSEMBL:ENSP00000201979", "ENSEMBL:ENSP00000201979.2"], "information_content": 90.9}
{"id": "MONDO:0060631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alkuraya-Kucinskas syndrome", "equivalent_identifiers": ["MONDO:0060631", "DOID:0111555", "OMIM:617822", "orphanet:610569", "UMLS:C4693347", "SNOMEDCT:1351836007", "medgen:1634304"], "information_content": 100.0}
{"id": "MONDO:0005738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "echinococcosis", "equivalent_identifiers": ["MONDO:0005738", "DOID:1496", "EFO:0007245", "UMLS:C0013502", "MESH:D004443", "MEDDRA:10014096", "MEDDRA:10014097", "MEDDRA:10020480", "MEDDRA:10043091", "NCIT:C84682", "SNOMEDCT:74942003", "medgen:4438", "icd11.foundation:1456802165", "ICD10:B67", "ICD9:122"], "information_content": 89.4}
{"id": "NCBIGene:81572", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDRG1", "equivalent_identifiers": ["NCBIGene:81572", "ENSEMBL:ENSG00000088356", "HGNC:16119", "OMIM:610789", "UMLS:C1538614", "UniProtKB:A0A384NKN4", "UMLS:C1313298", "MESH:C478985", "UniProtKB:Q9NUG6", "PR:Q9NUG6", "ENSEMBL:ENSP00000202017", "ENSEMBL:ENSP00000202017.4"], "information_content": 95.4}
{"id": "NCBIGene:23368", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R13B", "equivalent_identifiers": ["NCBIGene:23368", "ENSEMBL:ENSG00000088808", "HGNC:14950", "OMIM:606455", "UMLS:C1423080", "UniProtKB:Q96KQ4", "PR:Q96KQ4", "ENSEMBL:ENSP00000202556", "ENSEMBL:ENSP00000202556.9", "UMLS:C1567250", "MESH:C498406"], "information_content": 95.4}
{"id": "UniProtKB:O95932-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-glutamine gamma-glutamyltransferase 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95932-1", "PR:O95932-1", "ENSEMBL:ENSP00000202625", "ENSEMBL:ENSP00000202625.2"], "information_content": 100.0}
{"id": "MONDO:0015614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatitis herpetiformis", "equivalent_identifiers": ["MONDO:0015614", "DOID:8505", "orphanet:1656", "EFO:1000684", "UMLS:C0011608", "MESH:D003874", "MEDDRA:10012468", "NCIT:C26742", "SNOMEDCT:111196000", "medgen:8327", "icd11.foundation:286313127", "ICD10:L13.0", "ICD9:694.0"], "information_content": 92.8}
{"id": "MONDO:0005130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "celiac disease", "equivalent_identifiers": ["MONDO:0005130", "DOID:10608", "OMIM.PS:212750", "EFO:0001060", "UMLS:C0007570", "MESH:D002446", "MEDDRA:10007864", "MEDDRA:10007865", "MEDDRA:10009839", "MEDDRA:10018458", "MEDDRA:10018461", "MEDDRA:10029525", "MEDDRA:10058248", "NCIT:C26714", "SNOMEDCT:396331005", "medgen:3291", "ICD10:K90.0", "ICD9:579.0", "HP:0002608"], "information_content": 80.6}
{"id": "DOID:3660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wheat allergy", "equivalent_identifiers": ["DOID:3660", "EFO:1001243", "UMLS:C0949570", "MESH:D021182", "MEDDRA:10088411", "SNOMEDCT:420174000"]}
{"id": "MONDO:0008980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia-hypogonadism-choroidal dystrophy syndrome", "equivalent_identifiers": ["MONDO:0008980", "DOID:0111265", "OMIM:215470", "orphanet:1180", "UMLS:C1859093", "MESH:C565850", "SNOMEDCT:715984007", "medgen:347798"], "information_content": 100.0}
{"id": "UniProtKB:Q2PPJ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ral GTPase-activating protein subunit alpha-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2PPJ7-1", "PR:Q2PPJ7-1", "ENSEMBL:ENSP00000202677", "ENSEMBL:ENSP00000202677.6"], "information_content": 100.0}
{"id": "MONDO:0011365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharophimosis - intellectual disability syndrome, SBBYS type", "equivalent_identifiers": ["MONDO:0011365", "DOID:0060290", "OMIM:603736", "orphanet:3047", "UMLS:C1863557", "MESH:C536717", "MEDDRA:10090556", "SNOMEDCT:699298009", "medgen:350209"], "information_content": 100.0}
{"id": "NCBIGene:23409", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIRT4", "equivalent_identifiers": ["NCBIGene:23409", "ENSEMBL:ENSG00000089163", "HGNC:14932", "OMIM:604482", "UMLS:C1423064", "UniProtKB:Q9Y6E7", "PR:Q9Y6E7", "ENSEMBL:ENSP00000202967", "ENSEMBL:ENSP00000202967.4", "UMLS:C2002817", "MESH:C525357"], "information_content": 92.8}
{"id": "MONDO:0019975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pellagra", "equivalent_identifiers": ["MONDO:0019975", "DOID:8457", "orphanet:97352", "EFO:0008570", "UMLS:C0030783", "UMLS:C4317126", "MESH:D010383", "MEDDRA:10029400", "MEDDRA:10034231", "MEDDRA:10080738", "SNOMEDCT:418186002", "SNOMEDCT:418279001", "medgen:45364", "icd11.foundation:1108993080", "ICD10:E52", "ICD9:265.2", "HP:0100497"], "information_content": 95.4}
{"id": "UniProtKB:Q9UJA5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJA5-1", "PR:Q9UJA5-1", "ENSEMBL:ENSP00000203001", "ENSEMBL:ENSP00000203001.2"], "information_content": 100.0}
{"id": "NCBIGene:7384", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UQCRC1", "equivalent_identifiers": ["NCBIGene:7384", "ENSEMBL:ENSG00000010256", "HGNC:12585", "OMIM:191328", "UMLS:C1442767", "UniProtKB:P31930", "PR:P31930", "ENSEMBL:ENSP00000203407", "ENSEMBL:ENSP00000203407.5"], "information_content": 90.9}
{"id": "MONDO:0015448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex III deficiency", "equivalent_identifiers": ["MONDO:0015448", "DOID:0111139", "orphanet:1460", "UMLS:C1852372", "SNOMEDCT:709414007", "medgen:377658"], "information_content": 82.6}
{"id": "UniProtKB:P18627-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphocyte activation gene 3 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P18627-1", "PR:P18627-1", "ENSEMBL:ENSP00000203629", "ENSEMBL:ENSP00000203629.2"], "information_content": 100.0}
{"id": "MONDO:0005495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal gland disorder", "equivalent_identifiers": ["MONDO:0005495", "DOID:9553", "EFO:0005539", "UMLS:C0001621", "UMLS:C4021794", "MESH:D000307", "MEDDRA:10001347", "MEDDRA:10001348", "MEDDRA:10001353", "MEDDRA:10045767", "NCIT:C26690", "SNOMEDCT:30171000", "medgen:892577", "ICD10:E27.9", "ICD9:255.9", "HP:0000834"], "information_content": 66.2}
{"id": "MONDO:0014382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tatton-Brown-Rahman overgrowth syndrome", "equivalent_identifiers": ["MONDO:0014382", "DOID:0112339", "OMIM:615879", "orphanet:404443", "UMLS:C4014545", "SNOMEDCT:768843007", "medgen:862982"], "information_content": 100.0}
{"id": "NCBIGene:8079", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MLF2", "equivalent_identifiers": ["NCBIGene:8079", "ENSEMBL:ENSG00000089693", "HGNC:7126", "OMIM:601401", "UMLS:C1417189", "UniProtKB:A8K1F4", "UMLS:C1307765", "MESH:C100853", "UniProtKB:Q15773", "PR:Q15773", "ENSEMBL:ENSP00000203630", "ENSEMBL:ENSP00000203630.5", "ENSEMBL:ENSP00000403941", "ENSEMBL:ENSP00000403941.1", "ENSEMBL:ENSP00000446317", "ENSEMBL:ENSP00000446317.1", "UniProtKB:Q5U0N1"], "information_content": 100.0}
{"id": "MONDO:0013482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 8", "equivalent_identifiers": ["MONDO:0013482", "DOID:0070122", "OMIM:613885", "UMLS:C3836857", "medgen:854220"], "information_content": 100.0}
{"id": "UniProtKB:Q96DC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin thioesterase OTUB2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DC9-1", "PR:Q96DC9-1", "ENSEMBL:ENSP00000203664", "ENSEMBL:ENSP00000203664.5", "ENSEMBL:ENSP00000478628", "ENSEMBL:ENSP00000478628.1"], "information_content": 100.0}
{"id": "NCBIGene:7023", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TFAP4", "equivalent_identifiers": ["NCBIGene:7023", "ENSEMBL:ENSG00000090447", "HGNC:11745", "OMIM:600743", "UMLS:C1420697", "UniProtKB:Q01664", "PR:Q01664", "ENSEMBL:ENSP00000204517", "ENSEMBL:ENSP00000204517.6", "UMLS:C5441615", "MESH:C000720928"], "information_content": 90.9}
{"id": "UniProtKB:Q9NZD8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "maspardin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZD8-1", "PR:Q9NZD8-1", "ENSEMBL:ENSP00000204566", "ENSEMBL:ENSP00000204566.2", "ENSEMBL:ENSP00000404111", "ENSEMBL:ENSP00000404111.2"], "information_content": 100.0}
{"id": "MONDO:0008948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebrotendinous xanthomatosis", "equivalent_identifiers": ["MONDO:0008948", "DOID:4810", "OMIM:213700", "orphanet:909", "UMLS:C0238052", "MESH:D019294", "NCIT:C84628", "SNOMEDCT:63246000", "medgen:116041", "icd11.foundation:1556875179"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2X0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chordin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2X0-1", "PR:Q9H2X0-1", "ENSEMBL:ENSP00000204604", "ENSEMBL:ENSP00000204604.1"], "information_content": 100.0}
{"id": "MONDO:0007606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrodysplasia ossificans progressiva", "equivalent_identifiers": ["MONDO:0007606", "DOID:13374", "OMIM:135100", "orphanet:337", "UMLS:C0016037", "MEDDRA:10036809", "MEDDRA:10068715", "NCIT:C3040", "SNOMEDCT:82725007", "medgen:4698", "icd11.foundation:2102976705", "ICD10:M61.1", "ICD9:728.11"], "information_content": 92.8}
{"id": "NCBIGene:84572", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNPTG", "equivalent_identifiers": ["NCBIGene:84572", "ENSEMBL:ENSG00000090581", "HGNC:23026", "OMIM:607838", "UMLS:C1427860", "UniProtKB:Q9UJJ9", "PR:Q9UJJ9", "ENSEMBL:ENSP00000204679", "ENSEMBL:ENSP00000204679.4", "UMLS:C1620222", "MESH:C504791"], "information_content": 86.3}
{"id": "MONDO:0000723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stuttering", "equivalent_identifiers": ["MONDO:0000723", "DOID:0060243", "OMIM.PS:184450", "UMLS:C0038131", "UMLS:C0038506", "UMLS:C0454542", "UMLS:C0751527", "UMLS:C0751528", "UMLS:C0751529", "MESH:D013342", "MEDDRA:10041910", "MEDDRA:10041912", "MEDDRA:10042266", "MEDDRA:10042267", "NCIT:C35043", "SNOMEDCT:229631007", "SNOMEDCT:39423001", "medgen:20932", "ICD10:F80.81", "HP:0025268"], "information_content": 89.4}
{"id": "MONDO:0000724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "specific language impairment", "equivalent_identifiers": ["MONDO:0000724", "DOID:0060244", "OMIM.PS:606711", "EFO:1001510", "UMLS:C0454651", "SNOMEDCT:229746007", "medgen:627772"], "information_content": 88.2}
{"id": "MONDO:0011184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood apraxia of speech", "equivalent_identifiers": ["MONDO:0011184", "DOID:0111275", "OMIM:602081", "orphanet:209908", "UMLS:C0750927", "UMLS:C5441570", "SNOMEDCT:229703009", "medgen:152917", "icd11.foundation:1590154825"], "information_content": 100.0}
{"id": "MONDO:0006994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tarsal tunnel syndrome", "equivalent_identifiers": ["MONDO:0006994", "DOID:12526", "EFO:1001208", "UMLS:C0039319", "MESH:D013641", "MEDDRA:10043121", "NCIT:C85183", "SNOMEDCT:47374004", "medgen:52646", "icd11.foundation:854657246", "ICD10:G57.5", "ICD9:355.5"], "information_content": 100.0}
{"id": "MONDO:0009527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipase deficiency, combined", "equivalent_identifiers": ["MONDO:0009527", "DOID:0111422", "OMIM:246650", "orphanet:535453", "UMLS:C1855498", "MESH:C535904", "NCIT:C126558", "medgen:340886"], "information_content": 100.0}
{"id": "MONDO:0007275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carpal tunnel syndrome", "equivalent_identifiers": ["MONDO:0007275", "DOID:12169", "OMIM.PS:115430", "EFO:0004143", "UMLS:C0007286", "UMLS:C4023009", "MESH:D002349", "MEDDRA:10007697", "NCIT:C34450", "SNOMEDCT:57406009", "medgen:2856", "icd11.foundation:1275186848", "ICD10:G56.0", "ICD9:354.0", "HP:0012185"], "information_content": 92.8}
{"id": "UniProtKB:Q08378-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "golgin subfamily A member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08378-1", "PR:Q08378-1", "ENSEMBL:ENSP00000204726", "ENSEMBL:ENSP00000204726.3", "ENSEMBL:ENSP00000410378", "ENSEMBL:ENSP00000410378.2"], "information_content": 100.0}
{"id": "NCBIGene:1947", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EFNB1", "equivalent_identifiers": ["NCBIGene:1947", "ENSEMBL:ENSG00000090776", "HGNC:3226", "OMIM:300035", "UMLS:C1414305", "UniProtKB:P98172", "PR:P98172", "ENSEMBL:ENSP00000204961", "ENSEMBL:ENSP00000204961.4", "UMLS:C1435917", "MESH:C484288"], "information_content": 92.8}
{"id": "MONDO:0010570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofrontonasal syndrome", "equivalent_identifiers": ["MONDO:0010570", "DOID:14737", "OMIM:304110", "orphanet:1520", "UMLS:C0220767", "MESH:C536456", "SNOMEDCT:715421009", "medgen:65095"], "information_content": 100.0}
{"id": "MONDO:0016643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontonasal dysplasia", "equivalent_identifiers": ["MONDO:0016643", "DOID:0081044", "OMIM.PS:136760", "orphanet:250", "UMLS:C1876203", "MESH:C538065", "MEDDRA:10089384", "SNOMEDCT:86610004", "medgen:406292", "icd11.foundation:782645776"], "information_content": 83.6}
{"id": "MONDO:0005711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital diaphragmatic hernia", "equivalent_identifiers": ["MONDO:0005711", "DOID:3827", "OMIM.PS:142340", "orphanet:2140", "EFO:0007216", "EFO:0008561", "UMLS:C0019284", "UMLS:C0235833", "UMLS:C0700510", "MESH:D006548", "MESH:D065630", "MEDDRA:10010439", "MEDDRA:10012713", "MEDDRA:10012714", "MEDDRA:10012715", "MEDDRA:10012717", "MEDDRA:10012720", "MEDDRA:10012723", "NCIT:C34687", "NCIT:C98893", "SNOMEDCT:17190001", "SNOMEDCT:196903009", "SNOMEDCT:39839004", "medgen:68625", "icd11.foundation:1414428936", "HP:0000776", "MP:0003924"], "information_content": 74.9}
{"id": "MONDO:0007400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jackson-Weiss syndrome", "equivalent_identifiers": ["MONDO:0007400", "DOID:0111337", "OMIM:123150", "orphanet:1540", "UMLS:C0795998", "MESH:C537559", "NCIT:C123814", "SNOMEDCT:709105005", "medgen:208653"], "information_content": 100.0}
{"id": "MONDO:0007412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Beare-Stevenson cutis gyrata syndrome", "equivalent_identifiers": ["MONDO:0007412", "DOID:0050660", "OMIM:123790", "orphanet:1555", "UMLS:C1852406", "MESH:C565129", "NCIT:C123813", "SNOMEDCT:703528008", "medgen:377668", "icd11.foundation:947865461"], "information_content": 100.0}
{"id": "UniProtKB:Q92896-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi apparatus protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92896-2", "PR:Q92896-2", "ENSEMBL:ENSP00000205061", "ENSEMBL:ENSP00000205061.5"], "information_content": 100.0}
{"id": "MONDO:0007355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uveal coloboma-cleft lip and palate-intellectual disability", "equivalent_identifiers": ["MONDO:0007355", "DOID:0111249", "OMIM:120433", "orphanet:1473", "UMLS:C0795902", "UMLS:C3805432", "MESH:C535971", "medgen:811762"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYJ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "delta-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYJ7-1", "PR:Q9NYJ7-1", "ENSEMBL:ENSP00000205143", "ENSEMBL:ENSP00000205143.3"], "information_content": 100.0}
{"id": "MONDO:0000359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylocostal dysostosis", "equivalent_identifiers": ["MONDO:0000359", "DOID:0050568", "OMIM.PS:277300", "UMLS:C0265343", "MESH:C537565", "MEDDRA:10088002", "MEDDRA:10088003", "NCIT:C125598", "medgen:82707"], "information_content": 85.5}
{"id": "MONDO:0007057", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acroosteolysis dominant type", "equivalent_identifiers": ["MONDO:0007057", "DOID:2736", "OMIM:102500", "orphanet:955", "UMLS:C0432286", "UMLS:C0917715", "UMLS:C1838257", "UMLS:C2930971", "MESH:C535663", "MESH:C537586", "MESH:D031845", "NCIT:C84745", "SNOMEDCT:254148004", "SNOMEDCT:63122002", "medgen:182961"], "information_content": 100.0}
{"id": "MONDO:0007034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adams-Oliver syndrome", "equivalent_identifiers": ["MONDO:0007034", "DOID:0060227", "OMIM.PS:100300", "orphanet:974", "UMLS:C0265268", "MESH:C538225", "MEDDRA:10079369", "SNOMEDCT:34748004", "medgen:78544", "icd11.foundation:745972142"], "information_content": 87.2}
{"id": "MONDO:0001029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Klippel-Feil syndrome", "equivalent_identifiers": ["MONDO:0001029", "DOID:10426", "OMIM.PS:118100", "orphanet:2345", "UMLS:C0022738", "MESH:D007714", "MEDDRA:10023464", "NCIT:C98967", "SNOMEDCT:388981000", "SNOMEDCT:5601008", "medgen:9645", "ICD10:Q76.1", "ICD9:756.16", "HP:0004602"], "information_content": 85.5}
{"id": "MONDO:0007608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "desmoid tumor", "equivalent_identifiers": ["MONDO:0007608", "DOID:0080366", "OMIM:135290", "orphanet:873", "EFO:0009907", "UMLS:C1851124", "UMLS:CN072436", "MESH:C535944", "MESH:D018222", "NCIT:C9182", "medgen:38187"], "information_content": 82.6}
{"id": "NCBIGene:57106", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAT14", "equivalent_identifiers": ["NCBIGene:57106", "ENSEMBL:ENSG00000090971", "HGNC:28918", "UMLS:C1826358", "UniProtKB:Q8WUY8", "PR:Q8WUY8", "ENSEMBL:ENSP00000205194", "ENSEMBL:ENSP00000205194.3"], "information_content": 95.4}
{"id": "UniProtKB:Q4L235-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-alanine-activating enzyme isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4L235-1", "PR:Q4L235-1", "ENSEMBL:ENSP00000205214", "ENSEMBL:ENSP00000205214.6"], "information_content": 100.0}
{"id": "MONDO:0019053", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisomal disease", "equivalent_identifiers": ["MONDO:0019053", "DOID:906", "orphanet:68373", "EFO:0010956", "UMLS:C0282528", "MESH:D018901", "NCIT:C85005", "SNOMEDCT:238059005", "medgen:129185", "medgen:C1864399", "icd11.foundation:782299726", "ICD10:E71.5", "ICD9:277.86"], "information_content": 70.3}
{"id": "UniProtKB:P09622-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dihydrolipoyl dehydrogenase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P09622-1", "PR:P09622-1", "ENSEMBL:ENSP00000205402", "ENSEMBL:ENSP00000205402.3", "ENSEMBL:ENSP00000390667", "ENSEMBL:ENSP00000390667.1"], "information_content": 100.0}
{"id": "MONDO:0008774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-aminoadipic 2-oxoadipic aciduria", "equivalent_identifiers": ["MONDO:0008774", "DOID:0111453", "OMIM:204750", "orphanet:79154", "UMLS:C1855626", "UMLS:C1859817", "MESH:C565453", "SNOMEDCT:782918002", "medgen:395350"], "information_content": 100.0}
{"id": "UniProtKB:O95255-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family C member 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95255-1", "PR:O95255-1", "ENSEMBL:ENSP00000205557", "ENSEMBL:ENSP00000205557.7"], "information_content": 100.0}
{"id": "MONDO:0011782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioid streaks", "equivalent_identifiers": ["MONDO:0011782", "DOID:13401", "OMIM:607140", "EFO:1000805", "UMLS:C0002982", "MESH:D000793", "MEDDRA:10066191", "medgen:1541", "HP:0001102"], "information_content": 95.4}
{"id": "MONDO:0018870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arterial calcification of infancy", "equivalent_identifiers": ["MONDO:0018870", "DOID:0050644", "OMIM.PS:208000", "orphanet:51608", "UMLS:C1859727", "MESH:C537440", "medgen:395331"], "information_content": 92.8}
{"id": "MONDO:0008895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary arterial and articular multiple calcification syndrome", "equivalent_identifiers": ["MONDO:0008895", "DOID:0111582", "OMIM:211800", "orphanet:289601", "UMLS:C1859372", "MESH:C565891", "NCIT:C201591", "SNOMEDCT:718602007", "medgen:347132"], "information_content": 100.0}
{"id": "MONDO:0010187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin K-dependent clotting factors, combined deficiency of, type 1", "equivalent_identifiers": ["MONDO:0010187", "DOID:0112173", "OMIM:277450", "UMLS:C1848534", "MESH:C564741", "SNOMEDCT:724356003", "medgen:376381"], "information_content": 100.0}
{"id": "MONDO:0001746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic disk drusen", "equivalent_identifiers": ["MONDO:0001746", "DOID:13561", "UMLS:C0029128", "MESH:D015594", "MEDDRA:10030917", "SNOMEDCT:33629003", "medgen:14495", "ICD10:H47.32", "ICD9:377.21", "HP:0012426"], "information_content": 100.0}
{"id": "MONDO:0018570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatasia", "equivalent_identifiers": ["MONDO:0018570", "DOID:14213", "OMIM:241510", "orphanet:436", "UMLS:C0020630", "UMLS:C0220743", "MESH:C562440", "MESH:D007014", "MEDDRA:10049933", "NCIT:C26798", "SNOMEDCT:190859005", "SNOMEDCT:30174008", "SNOMEDCT:360792001", "medgen:43799", "icd11.foundation:422012968", "ICD10:E83.39"], "information_content": 86.3}
{"id": "MONDO:0002257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ankylosis", "equivalent_identifiers": ["MONDO:0002257", "DOID:227", "UMLS:C0003090", "MESH:D000844", "MEDDRA:10002559", "MEDDRA:10002566", "MEDDRA:10002571", "MEDDRA:10023198", "NCIT:C171941", "SNOMEDCT:111227009", "SNOMEDCT:36504009", "medgen:8101", "ICD10:M24.6", "ICD9:718.5", "HP:0031013"], "information_content": 92.8}
{"id": "MONDO:0001244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin K deficiency hemorrhagic disease", "equivalent_identifiers": ["MONDO:0001244", "DOID:11249", "UMLS:C0042880", "UMLS:C0272348", "UMLS:C5139061", "MESH:D014813", "MEDDRA:10012136", "MEDDRA:10047634", "NCIT:C99108", "SNOMEDCT:1286003", "SNOMEDCT:52675005", "medgen:543992", "ICD10:E56.1", "ICD9:269.0", "HP:0011892"], "information_content": 95.4}
{"id": "MONDO:0007432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CADASIL", "equivalent_identifiers": ["MONDO:0007432", "DOID:13945", "OMIM.PS:125310", "UMLS:C0751587", "MEDDRA:10065551", "MEDDRA:10065555", "medgen:199687", "ICD10:I67.850"], "information_content": 90.9}
{"id": "MONDO:0018544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenoleukodystrophy", "equivalent_identifiers": ["MONDO:0018544", "DOID:10588", "OMIM:300100", "orphanet:43", "UMLS:C0162309", "MESH:D000326", "MEDDRA:10051260", "NCIT:C61252", "medgen:57667", "icd11.foundation:1085655586", "ICD10:E71.52"], "information_content": 90.9}
{"id": "NCBIGene:54918", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CMTM6", "equivalent_identifiers": ["NCBIGene:54918", "ENSEMBL:ENSG00000091317", "HGNC:19177", "OMIM:607889", "UMLS:C1426066", "UniProtKB:Q9NX76", "PR:Q9NX76", "ENSEMBL:ENSP00000205636", "ENSEMBL:ENSP00000205636.3", "UMLS:C5196614", "MESH:C000629709"], "information_content": 95.4}
{"id": "NCBIGene:350", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOH", "equivalent_identifiers": ["NCBIGene:350", "ENSEMBL:ENSG00000091583", "HGNC:616", "OMIM:138700", "UMLS:C1412484", "UniProtKB:A0A384NKM6", "UniProtKB:P02749", "PR:P02749", "ENSEMBL:ENSP00000205948", "ENSEMBL:ENSP00000205948.6", "UMLS:C4553380"], "information_content": 79.0}
{"id": "MONDO:8000010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "antiphospholipid syndrome", "equivalent_identifiers": ["MONDO:8000010", "DOID:2988", "orphanet:80", "EFO:0002689", "UMLS:C0085278", "MESH:D016736", "MEDDRA:10002817", "NCIT:C61283", "SNOMEDCT:26843008", "medgen:38834", "icd11.foundation:1173370808", "ICD10:D68.61"], "information_content": 88.2}
{"id": "MONDO:0005919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "placental insufficiency", "equivalent_identifiers": ["MONDO:0005919", "DOID:3891", "orphanet:439167", "EFO:0007443", "UMLS:C0032051", "MESH:D010927", "MEDDRA:10035138", "SNOMEDCT:237292005", "medgen:45942"], "information_content": 100.0}
{"id": "MONDO:0002565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myelitis", "equivalent_identifiers": ["MONDO:0002565", "DOID:322", "EFO:1001472", "UMLS:C0026975", "MESH:D009187", "MEDDRA:10028524", "MEDDRA:10028526", "NCIT:C26832", "SNOMEDCT:41370002", "medgen:10230", "icd11.foundation:1993728609", "HP:0012486"], "information_content": 83.1}
{"id": "MONDO:0010030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sicca Syndrome", "equivalent_identifiers": ["MONDO:0010030", "DOID:12894", "OMIM:270150", "orphanet:289390", "EFO:0000699", "UMLS:C0086981", "UMLS:C1527336", "MESH:D012859", "MEDDRA:10018626", "MEDDRA:10040633", "MEDDRA:10040765", "MEDDRA:10040766", "MEDDRA:10040767", "MEDDRA:10042844", "MEDDRA:10042846", "MEDDRA:10059142", "NCIT:C26883", "NCIT:C70647", "SNOMEDCT:83901003", "medgen:282890", "icd11.foundation:899463360", "ICD10:M35.0", "ICD9:710.2"], "information_content": 86.3}
{"id": "MONDO:0004846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "placental abruption", "equivalent_identifiers": ["MONDO:0004846", "DOID:9667", "EFO:1001754", "UMLS:C0000821", "UMLS:C0000832", "MESH:D000033", "MESH:D000037", "MEDDRA:10000242", "MEDDRA:10000267", "MEDDRA:10036608", "MEDDRA:10036610", "MEDDRA:10043504", "MEDDRA:10043505", "MEDDRA:10053595", "NCIT:C112857", "NCIT:C26685", "SNOMEDCT:405736009", "SNOMEDCT:415105001", "SNOMEDCT:54048003", "medgen:49", "ICD10:O20.0", "ICD9:640.0", "HP:0011419"], "information_content": 100.0}
{"id": "MONDO:0001595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chorea", "equivalent_identifiers": ["MONDO:0001595", "DOID:12859", "orphanet:1429", "EFO:0004152", "UMLS:C0008489", "UMLS:C4020858", "MESH:D002819", "MEDDRA:10008748", "MEDDRA:10008750", "MEDDRA:10008752", "MEDDRA:10082995", "NCIT:C84633", "SNOMEDCT:230298007", "SNOMEDCT:230306001", "SNOMEDCT:271700006", "medgen:3420", "icd11.foundation:829618737", "HP:0002072"], "information_content": 84.2}
{"id": "MONDO:0008558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune thrombocytopenic purpura", "equivalent_identifiers": ["MONDO:0008558", "DOID:8924", "OMIM:188030", "orphanet:3002", "EFO:0007160", "UMLS:C0398650", "MESH:D016553", "MEDDRA:10021243", "MEDDRA:10021245", "MEDDRA:10051064", "MEDDRA:10074667", "MEDDRA:10083843", "NCIT:C3446", "medgen:584986", "icd11.foundation:364346400", "ICD10:D69.3", "ICD9:287.31"], "information_content": 100.0}
{"id": "MONDO:0003785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukopenia", "equivalent_identifiers": ["MONDO:0003785", "DOID:615", "EFO:0004233", "UMLS:C0023530", "UMLS:C0750394", "MESH:D007970", "MEDDRA:10011982", "MEDDRA:10024283", "MEDDRA:10024285", "MEDDRA:10024384", "MEDDRA:10047942", "MEDDRA:10048552", "MEDDRA:10049182", "MEDDRA:10051617", "MEDDRA:10056731", "MEDDRA:10068177", "MEDDRA:10068178", "NCIT:C26816", "SNOMEDCT:419188005", "SNOMEDCT:84828003", "medgen:6073", "ICD10:D72.819", "ICD9:288.50", "HP:0001882"], "information_content": 67.7}
{"id": "MONDO:0021113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "respiratory failure", "equivalent_identifiers": ["MONDO:0021113", "DOID:11162", "EFO:0009686", "UMLS:C0264492", "UMLS:C1145670", "MESH:D012131", "MEDDRA:10009126", "MEDDRA:10016162", "MEDDRA:10038651", "MEDDRA:10038695", "NCIT:C26872", "SNOMEDCT:39871006", "SNOMEDCT:409622000", "medgen:257837", "icd11.foundation:370028006", "ICD10:J96.0", "ICD9:518.81", "HP:0002878"], "information_content": 83.6}
{"id": "MONDO:0016030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Evans syndrome", "equivalent_identifiers": ["MONDO:0016030", "DOID:8931", "orphanet:1959", "UMLS:C0272126", "MESH:C536380", "MEDDRA:10053873", "NCIT:C61284", "SNOMEDCT:75331009", "medgen:75773", "icd11.foundation:1048228553", "ICD10:D69.41", "ICD9:287.32"], "information_content": 100.0}
{"id": "MONDO:0004743", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperhomocysteinemia", "equivalent_identifiers": ["MONDO:0004743", "DOID:9279", "OMIM:603174", "UMLS:C0598608", "MESH:D020138", "MEDDRA:10051286", "MEDDRA:10055180", "NCIT:C84770", "SNOMEDCT:419503008", "medgen:108623"], "information_content": 100.0}
{"id": "MONDO:0002800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophlebitis", "equivalent_identifiers": ["MONDO:0002800", "DOID:3875", "UMLS:C0040046", "UMLS:C0265057", "MESH:D013924", "MEDDRA:10042557", "MEDDRA:10043570", "MEDDRA:10043579", "MEDDRA:10043587", "MEDDRA:10047247", "NCIT:C3410", "SNOMEDCT:40283005", "SNOMEDCT:64156001", "medgen:11799", "ICD10:I80.0", "ICD9:451.0", "HP:0004418"], "information_content": 90.9}
{"id": "MONDO:0008436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sneddon syndrome", "equivalent_identifiers": ["MONDO:0008436", "DOID:13096", "OMIM:182410", "orphanet:820", "EFO:1001186", "UMLS:C0282492", "MESH:D018860", "MEDDRA:10053841", "SNOMEDCT:238776001", "SNOMEDCT:716745004", "medgen:76449", "icd11.foundation:1474816492"], "information_content": 100.0}
{"id": "MONDO:0006978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "splenic infarction", "equivalent_identifiers": ["MONDO:0006978", "DOID:2533", "EFO:1001190", "UMLS:C0037998", "MESH:D013159", "MEDDRA:10041648", "SNOMEDCT:22996003", "medgen:52468", "ICD10:D73.5", "HP:0034336"], "information_content": 100.0}
{"id": "MONDO:0005979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thoracic outlet syndrome", "equivalent_identifiers": ["MONDO:0005979", "DOID:3103", "orphanet:97330", "EFO:0007507", "UMLS:C0039984", "MESH:D013901", "MEDDRA:10048627", "NCIT:C85188", "SNOMEDCT:128210009", "medgen:21158", "icd11.foundation:909280105", "ICD10:G54.0"], "information_content": 90.9}
{"id": "MONDO:0030702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune atherosclerosis", "equivalent_identifiers": ["MONDO:0030702", "DOID:0040096"], "information_content": 100.0}
{"id": "MONDO:0016264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune hepatitis", "equivalent_identifiers": ["MONDO:0016264", "DOID:2048", "orphanet:2137", "EFO:0005676", "UMLS:C0241910", "UMLS:C1332355", "UMLS:C4721555", "MESH:D019693", "MEDDRA:10003827", "MEDDRA:10019730", "NCIT:C27029", "NCIT:C27778", "SNOMEDCT:16098491000119109", "SNOMEDCT:408335007", "medgen:1666753", "icd11.foundation:1235727122", "ICD9:571.42"], "information_content": 87.2}
{"id": "NCBIGene:9552", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPAG7", "equivalent_identifiers": ["NCBIGene:9552", "ENSEMBL:ENSG00000091640", "HGNC:11216", "OMIM:610056", "UMLS:C1420340", "UniProtKB:O75391", "PR:O75391", "ENSEMBL:ENSP00000206020", "ENSEMBL:ENSP00000206020.3", "UMLS:C3883873"], "information_content": 92.8}
{"id": "MONDO:0018540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PFAPA syndrome", "equivalent_identifiers": ["MONDO:0018540", "DOID:0081451", "orphanet:42642", "UMLS:C4082167", "MEDDRA:10070594", "MEDDRA:10070596", "NCIT:C116917", "SNOMEDCT:717231003", "medgen:909507"], "information_content": 100.0}
{"id": "NCBIGene:26575", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RGS17", "equivalent_identifiers": ["NCBIGene:26575", "ENSEMBL:ENSG00000091844", "HGNC:14088", "OMIM:607191", "UMLS:C1422398", "UniProtKB:Q9UGC6", "PR:Q9UGC6", "ENSEMBL:ENSP00000206262", "ENSEMBL:ENSP00000206262.1", "ENSEMBL:ENSP00000356194", "ENSEMBL:ENSP00000356194.1", "UMLS:C2935090", "MESH:C550555"], "information_content": 95.4}
{"id": "UniProtKB:Q76M96-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 80 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q76M96-1", "PR:Q76M96-1", "ENSEMBL:ENSP00000206423", "ENSEMBL:ENSP00000206423.3", "ENSEMBL:ENSP00000411814", "ENSEMBL:ENSP00000411814.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6D7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HAUS augmin-like complex subunit 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6D7-1", "PR:Q9H6D7-1", "ENSEMBL:ENSP00000206474", "ENSEMBL:ENSP00000206474.7", "ENSEMBL:ENSP00000441026", "ENSEMBL:ENSP00000441026.1"], "information_content": 100.0}
{"id": "MONDO:0002233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enamel caries", "equivalent_identifiers": ["MONDO:0002233", "DOID:217", "UMLS:C0266853", "SNOMEDCT:109570002", "SNOMEDCT:80353004", "medgen:540214", "ICD9:521.01"], "information_content": 95.4}
{"id": "NCBIGene:1053", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEBPE", "equivalent_identifiers": ["NCBIGene:1053", "ENSEMBL:ENSG00000092067", "HGNC:1836", "OMIM:600749", "UMLS:C1332750", "UniProtKB:Q15744", "PR:Q15744", "ENSEMBL:ENSP00000206513", "ENSEMBL:ENSP00000206513.5", "UMLS:C1384540", "MESH:C070790"], "information_content": 95.4}
{"id": "NCBIGene:55644", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OSGEP", "equivalent_identifiers": ["NCBIGene:55644", "ENSEMBL:ENSG00000092094", "HGNC:18028", "OMIM:610107", "UMLS:C1425254", "UniProtKB:Q9NPF4", "PR:Q9NPF4", "ENSEMBL:ENSP00000206542", "ENSEMBL:ENSP00000206542.4", "ENSEMBL:ENSP00000517336", "ENSEMBL:ENSP00000517336.1", "UMLS:C1434024"], "information_content": 90.9}
{"id": "MONDO:0009627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome", "equivalent_identifiers": ["MONDO:0009627", "DOID:0080694", "OMIM.PS:251300", "orphanet:2065", "UMLS:C0795949", "MESH:C537548", "MEDDRA:10088355", "NCIT:C132195", "SNOMEDCT:721297008", "medgen:167086"], "information_content": 84.2}
{"id": "MONDO:0007721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hiatus hernia", "equivalent_identifiers": ["MONDO:0007721", "DOID:12642", "OMIM:142400", "UMLS:C0267725", "UMLS:C0376710", "UMLS:C3489393", "MESH:D006551", "MEDDRA:10018802", "MEDDRA:10019914", "MEDDRA:10020024", "MEDDRA:10020028", "MEDDRA:10033774", "MEDDRA:10033884", "MEDDRA:10039210", "MEDDRA:10041019", "MEDDRA:10058165", "MEDDRA:10058167", "MEDDRA:10059188", "MEDDRA:10072765", "MEDDRA:10075920", "MEDDRA:10075921", "MEDDRA:10081550", "NCIT:C98945", "SNOMEDCT:236053002", "SNOMEDCT:3662000", "SNOMEDCT:84089009", "medgen:483347", "ICD10:K44", "HP:0002036"], "information_content": 95.4}
{"id": "MONDO:0012184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pierson syndrome", "equivalent_identifiers": ["MONDO:0012184", "DOID:0060852", "OMIM:609049", "orphanet:2670", "UMLS:C1836876", "MESH:C537185", "NCIT:C128145", "SNOMEDCT:723449004", "medgen:373199", "icd11.foundation:555082533"], "information_content": 100.0}
{"id": "MONDO:0005901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pasteurellosis", "equivalent_identifiers": ["MONDO:0005901", "DOID:11055", "EFO:0007424", "UMLS:C0030636", "MESH:D010326", "MEDDRA:10034106", "MEDDRA:10034107", "MEDDRA:10034113", "SNOMEDCT:83172007", "medgen:10598", "icd11.foundation:304649065", "ICD10:A28.0", "ICD9:027.2"], "information_content": 92.8}
{"id": "MONDO:0007635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frasier syndrome", "equivalent_identifiers": ["MONDO:0007635", "DOID:0050438", "OMIM:136680", "orphanet:347", "UMLS:C0950122", "MESH:D052159", "MEDDRA:10080313", "NCIT:C122805", "SNOMEDCT:445431000", "medgen:215533", "icd11.foundation:1659542949"], "information_content": 100.0}
{"id": "UniProtKB:P22735-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-glutamine gamma-glutamyltransferase K isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P22735-1", "PR:P22735-1", "ENSEMBL:ENSP00000206765", "ENSEMBL:ENSP00000206765.6", "ENSEMBL:ENSP00000493587", "ENSEMBL:ENSP00000493587.1"], "information_content": 100.0}
{"id": "MONDO:0006566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratosis", "equivalent_identifiers": ["MONDO:0006566", "DOID:161", "EFO:1000720", "UMLS:C0022579", "UMLS:C0022593", "MESH:D007642", "MEDDRA:10023357", "MEDDRA:10023368", "NCIT:C34745", "NCIT:C34747", "SNOMEDCT:254666005", "SNOMEDCT:707209001", "medgen:9625"], "information_content": 68.6}
{"id": "MONDO:0009735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Netherton syndrome", "equivalent_identifiers": ["MONDO:0009735", "DOID:0050474", "OMIM:256500", "orphanet:634", "UMLS:C5574950", "MESH:D056770", "MEDDRA:10062909", "NCIT:C84922", "SNOMEDCT:312514006", "medgen:1802991", "icd11.foundation:1797493665"], "information_content": 100.0}
{"id": "MONDO:0005083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psoriasis", "equivalent_identifiers": ["MONDO:0005083", "DOID:8893", "OMIM.PS:177900", "EFO:0000676", "UMLS:C0033860", "UMLS:C0262985", "MESH:D011565", "MEDDRA:10037153", "MEDDRA:10058675", "NCIT:C27724", "NCIT:C3346", "SNOMEDCT:238564003", "SNOMEDCT:52230004", "SNOMEDCT:9014002", "medgen:10997", "icd11.foundation:63698555", "ICD10:L40", "HP:0003765"], "information_content": 78.5}
{"id": "MONDO:0019347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peeling skin syndrome", "equivalent_identifiers": ["MONDO:0019347", "DOID:0060283", "OMIM.PS:270300", "orphanet:817", "UMLS:C0343064", "MEDDRA:10052290", "SNOMEDCT:239065004", "icd11.foundation:523640904"], "information_content": 85.5}
{"id": "MONDO:0014541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Temple syndrome", "equivalent_identifiers": ["MONDO:0014541", "DOID:0111713", "OMIM:616222", "orphanet:254516", "UMLS:C4015558", "MESH:C000726750", "NCIT:C120409", "SNOMEDCT:1003405008", "SNOMEDCT:778012003", "medgen:863995"], "information_content": 90.9}
{"id": "MONDO:0019701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrodysplasia punctata", "equivalent_identifiers": ["MONDO:0019701", "DOID:2581", "orphanet:93442", "UMLS:C0008445", "UMLS:C1859126", "MESH:D002806", "MEDDRA:10087150", "NCIT:C84632", "SNOMEDCT:278715001", "SNOMEDCT:360507004", "medgen:3052", "icd11.foundation:1923035846", "HP:0010655"], "information_content": 73.9}
{"id": "MONDO:0001604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lagophthalmos", "equivalent_identifiers": ["MONDO:0001604", "DOID:12959", "UMLS:C0152226", "UMLS:C4022680", "MESH:D000092164", "MEDDRA:10023683", "MEDDRA:10023684", "SNOMEDCT:60735000", "medgen:57517", "icd11.foundation:1200365909", "ICD10:H02.2", "ICD9:374.2", "HP:0030001"], "information_content": 90.9}
{"id": "MONDO:0017851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrokeratodermia variabilis", "equivalent_identifiers": ["MONDO:0017851", "DOID:0050467", "OMIM.PS:133200", "orphanet:308166", "orphanet:316", "orphanet:317", "UMLS:C0265961", "UMLS:C1851479", "MESH:C536154", "MESH:D056266", "MEDDRA:10049048", "NCIT:C84696", "SNOMEDCT:70041004", "medgen:75587", "icd11.foundation:551200965"], "information_content": 85.5}
{"id": "MONDO:0009666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holocarboxylase synthetase deficiency", "equivalent_identifiers": ["MONDO:0009666", "DOID:859", "OMIM:253270", "orphanet:79242", "UMLS:C0268581", "MESH:D028922", "NCIT:C98842", "NCIT:C99247", "SNOMEDCT:15307001", "SNOMEDCT:360369003", "medgen:120653", "ICD10:D81.818"], "information_content": 95.4}
{"id": "MONDO:0004785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharitis", "equivalent_identifiers": ["MONDO:0004785", "DOID:9423", "EFO:0009536", "UMLS:C0005741", "UMLS:C0155181", "UMLS:C0339063", "UMLS:C0686366", "MESH:D001762", "MEDDRA:10005148", "MEDDRA:10005150", "MEDDRA:10007908", "MEDDRA:10021962", "MEDDRA:10045959", "MEDDRA:10070247", "NCIT:C112183", "SNOMEDCT:1231722004", "SNOMEDCT:231796003", "SNOMEDCT:41446000", "medgen:598", "ICD10:H01.0", "ICD9:373.0", "ICD9:373.4", "HP:0000498"], "information_content": 80.9}
{"id": "MONDO:0100017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pityriasis rubra pilaris", "equivalent_identifiers": ["MONDO:0100017", "DOID:9212", "UMLS:C0032027", "MESH:D010916", "MEDDRA:10035116", "NCIT:C85014", "SNOMEDCT:3755001", "medgen:45939", "icd11.foundation:2048594962", "ICD10:L44.0", "ICD9:696.4"], "information_content": 90.9}
{"id": "NCBIGene:27285", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEKT2", "equivalent_identifiers": ["NCBIGene:27285", "ENSEMBL:ENSG00000092850", "HGNC:11725", "OMIM:608953", "UMLS:C1420687", "UniProtKB:Q9UIF3", "PR:Q9UIF3", "ENSEMBL:ENSP00000207457", "ENSEMBL:ENSP00000207457.3", "UMLS:C1610425"], "information_content": 95.4}
{"id": "MONDO:0013457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 15", "equivalent_identifiers": ["MONDO:0013457", "DOID:0110189", "OMIM:613843", "UMLS:C3151206", "medgen:462556"], "information_content": 100.0}
{"id": "UniProtKB:Q70J99-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein unc-13 homolog D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q70J99-1", "PR:Q70J99-1", "ENSEMBL:ENSP00000207549", "ENSEMBL:ENSP00000207549.3"], "information_content": 100.0}
{"id": "MONDO:0018306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Griscelli syndrome", "equivalent_identifiers": ["MONDO:0018306", "DOID:0060831", "OMIM.PS:214450", "orphanet:381", "UMLS:C0398794", "MEDDRA:10081517", "SNOMEDCT:37548006", "medgen:585090"], "information_content": 90.9}
{"id": "MONDO:0008963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chediak-Higashi syndrome", "equivalent_identifiers": ["MONDO:0008963", "DOID:2935", "OMIM:214500", "orphanet:167", "UMLS:C0007965", "MESH:D002609", "MEDDRA:10004202", "MEDDRA:10008415", "NCIT:C2941", "SNOMEDCT:111396008", "medgen:3347", "ICD10:E70.330"], "information_content": 90.9}
{"id": "MONDO:0019312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome", "equivalent_identifiers": ["MONDO:0019312", "DOID:3753", "OMIM.PS:203300", "orphanet:79430", "UMLS:C0079504", "MESH:D022861", "MEDDRA:10071775", "NCIT:C37261", "SNOMEDCT:9311003", "medgen:36313", "icd11.foundation:2089801290", "ICD10:E70.331"], "information_content": 82.1}
{"id": "MONDO:0011429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile idiopathic arthritis", "equivalent_identifiers": ["MONDO:0011429", "DOID:676", "OMIM:604302", "orphanet:92", "EFO:0002609", "UMLS:C0157916", "UMLS:C0157917", "UMLS:C0157918", "UMLS:C3495559", "UMLS:C3714757", "MESH:D001171", "MEDDRA:10023266", "MEDDRA:10023267", "MEDDRA:10027842", "MEDDRA:10034164", "MEDDRA:10034165", "MEDDRA:10034166", "MEDDRA:10036038", "MEDDRA:10059176", "MEDDRA:10059177", "NCIT:C114357", "NCIT:C61279", "SNOMEDCT:16024431000119108", "SNOMEDCT:410502007", "SNOMEDCT:410795001", "medgen:760659", "icd11.foundation:1322678686", "ICD10:M08.4", "ICD9:714.3", "ICD9:714.31", "ICD9:714.32", "ICD9:714.33", "HP:0005681"], "information_content": 83.1}
{"id": "MONDO:0019355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset Still disease", "equivalent_identifiers": ["MONDO:0019355", "DOID:14256", "orphanet:829", "EFO:0007135", "UMLS:C0085253", "MESH:D016706", "MEDDRA:10064056", "MEDDRA:10079455", "MEDDRA:10079456", "NCIT:C197832", "SNOMEDCT:239920006", "SNOMEDCT:68190001", "medgen:39007", "icd11.foundation:549009522", "ICD10:M06.1"], "information_content": 100.0}
{"id": "MONDO:0002637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histiocytosis", "equivalent_identifiers": ["MONDO:0002637", "DOID:3405", "UMLS:C0019618", "UMLS:C5848164", "MESH:D015614", "MEDDRA:10020117", "MEDDRA:10020118", "NCIT:C3106", "SNOMEDCT:60657004", "SNOMEDCT:65396000", "medgen:6845", "HP:0100727"], "information_content": 68.0}
{"id": "MONDO:0012727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucocutaneous lymph node syndrome", "equivalent_identifiers": ["MONDO:0012727", "DOID:13378", "OMIM:611775", "orphanet:2331", "EFO:0004246", "UMLS:C0026691", "UMLS:C2936917", "MESH:C537014", "MESH:D009080", "MEDDRA:10000747", "MEDDRA:10023320", "MEDDRA:10028083", "NCIT:C34825", "SNOMEDCT:75053002", "medgen:10118", "icd11.foundation:540285662", "ICD10:M30.3", "ICD9:446.1"], "information_content": 100.0}
{"id": "MONDO:0001243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disseminated intravascular coagulation", "equivalent_identifiers": ["MONDO:0001243", "DOID:11247", "UMLS:C0012739", "MESH:D004211", "MEDDRA:10010785", "MEDDRA:10010786", "MEDDRA:10012126", "MEDDRA:10012769", "MEDDRA:10013442", "NCIT:C131658", "NCIT:C2992", "SNOMEDCT:67406007", "medgen:41620", "icd11.foundation:1622289887", "ICD9:286.6", "HP:0005521"], "information_content": 80.6}
{"id": "MONDO:0018088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial Mediterranean fever", "equivalent_identifiers": ["MONDO:0018088", "DOID:2987", "orphanet:342", "UMLS:C0031069", "MESH:D010505", "MEDDRA:10016207", "MEDDRA:10016211", "NCIT:C84707", "SNOMEDCT:12579009", "medgen:45811", "icd11.foundation:1373335705", "ICD9:277.31"], "information_content": 92.8}
{"id": "MONDO:0018910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism", "equivalent_identifiers": ["MONDO:0018910", "DOID:0050632", "DOID:0090100", "OMIM.PS:203100", "orphanet:55", "UMLS:C0078918", "MESH:D016115", "NCIT:C84941", "SNOMEDCT:63844009", "medgen:36250", "icd11.foundation:1189424097", "ICD10:E70.3"], "information_content": 82.6}
{"id": "MONDO:0007686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gray platelet syndrome", "equivalent_identifiers": ["MONDO:0007686", "DOID:0111044", "OMIM:139090", "orphanet:721", "UMLS:C0272302", "MESH:D055652", "NCIT:C84741", "SNOMEDCT:51720005", "medgen:82900", "icd11.foundation:1818085572", "ICD10:D69.1"], "information_content": 100.0}
{"id": "MONDO:0017123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ARC syndrome", "equivalent_identifiers": ["MONDO:0017123", "DOID:0050763", "OMIM.PS:208085", "orphanet:2697", "UMLS:C4551984", "MESH:C535382", "SNOMEDCT:720513002", "medgen:1647210"], "information_content": 92.8}
{"id": "UniProtKB:O75191-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "xylulose kinase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75191-1", "PR:O75191-1", "ENSEMBL:ENSP00000207870", "ENSEMBL:ENSP00000207870.3"], "information_content": 100.0}
{"id": "MONDO:0009846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pentosuria", "equivalent_identifiers": ["MONDO:0009846", "DOID:0111258", "OMIM:260800", "orphanet:2843", "UMLS:C0268162", "MESH:C536652", "MEDDRA:10064170", "SNOMEDCT:190764000", "medgen:78646", "ICD10:E74.89"], "information_content": 100.0}
{"id": "MONDO:0010294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked severe congenital neutropenia", "equivalent_identifiers": ["MONDO:0010294", "DOID:0112128", "OMIM:300299", "orphanet:86788", "UMLS:C1845987", "MESH:C564539", "NCIT:C176818", "SNOMEDCT:718882006", "medgen:335314"], "information_content": 100.0}
{"id": "NCBIGene:124", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADH1A", "equivalent_identifiers": ["NCBIGene:124", "ENSEMBL:ENSG00000187758", "HGNC:249", "OMIM:103700", "UMLS:C1412235", "UniProtKB:P07327", "PR:P07327", "ENSEMBL:ENSP00000209668", "ENSEMBL:ENSP00000209668.2"], "information_content": 92.8}
{"id": "MONDO:0018458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypocalciuric hypercalcemia", "equivalent_identifiers": ["MONDO:0018458", "DOID:0060699", "OMIM.PS:145980", "orphanet:405", "UMLS:C1809471", "MEDDRA:10068698", "MEDDRA:10068702", "MEDDRA:10068704", "MEDDRA:10068705", "NCIT:C123262", "SNOMEDCT:237885008", "medgen:369200", "icd11.foundation:81374726", "ICD10:E83.5"], "information_content": 90.9}
{"id": "UniProtKB:Q9C075-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin, type I cytoskeletal 23 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C075-1", "PR:Q9C075-1", "ENSEMBL:ENSP00000209718", "ENSEMBL:ENSP00000209718.3", "ENSEMBL:ENSP00000459021", "ENSEMBL:ENSP00000459021.1"], "information_content": 100.0}
{"id": "NCBIGene:990", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC6", "equivalent_identifiers": ["NCBIGene:990", "ENSEMBL:ENSG00000094804", "HGNC:1744", "OMIM:602627", "UMLS:C1332725", "UniProtKB:Q99741", "PR:Q99741", "ENSEMBL:ENSP00000209728", "ENSEMBL:ENSP00000209728.4", "ENSEMBL:ENSP00000497345", "ENSEMBL:ENSP00000497345.1", "UMLS:C0534434", "MESH:C103706"], "information_content": 84.2}
{"id": "MONDO:0016817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome", "equivalent_identifiers": ["MONDO:0016817", "DOID:0060306", "OMIM.PS:224690", "orphanet:2554", "UMLS:C1868684", "MESH:C538012", "MEDDRA:10070612", "medgen:401501"], "information_content": 85.5}
{"id": "MONDO:0009619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly-micromelia syndrome", "equivalent_identifiers": ["MONDO:0009619", "DOID:0081432", "OMIM:251230", "orphanet:572768", "UMLS:C1855079", "MESH:C565382", "medgen:381553"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRG9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aladin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRG9-1", "PR:Q9NRG9-1", "ENSEMBL:ENSP00000209873", "ENSEMBL:ENSP00000209873.4", "ENSEMBL:ENSP00000517438", "ENSEMBL:ENSP00000517438.1"], "information_content": 100.0}
{"id": "MONDO:0009279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triple-A syndrome", "equivalent_identifiers": ["MONDO:0009279", "DOID:0050602", "OMIM:231550", "orphanet:869", "UMLS:C0271742", "MESH:C536008", "MEDDRA:10073592", "MEDDRA:10073593", "NCIT:C35710", "SNOMEDCT:45414006", "medgen:82889"], "information_content": 100.0}
{"id": "MONDO:0008698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achalasia", "equivalent_identifiers": ["MONDO:0008698", "DOID:9164", "UMLS:C0014848", "UMLS:C2939435", "MESH:D004931", "MEDDRA:10000422", "MEDDRA:10000423", "MEDDRA:10007645", "MEDDRA:10030136", "MEDDRA:10030226", "MEDDRA:10055457", "MEDDRA:10055497", "MEDDRA:10055966", "NCIT:C84699", "SNOMEDCT:235630008", "SNOMEDCT:45564002", "medgen:5023", "icd11.foundation:636464846", "ICD10:K22.0", "ICD9:530.0", "HP:0002571"], "information_content": 92.8}
{"id": "MONDO:0008733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial glucocorticoid deficiency", "equivalent_identifiers": ["MONDO:0008733", "DOID:0080620", "OMIM.PS:202200", "orphanet:361", "UMLS:C4054695", "MESH:C565974", "MEDDRA:10082603", "NCIT:C120446", "SNOMEDCT:765326001", "medgen:885955", "icd11.foundation:861297039"], "information_content": 87.2}
{"id": "MONDO:0004691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant polycystic kidney disease", "equivalent_identifiers": ["MONDO:0004691", "DOID:898", "orphanet:730", "EFO:1001496", "UMLS:C0085413", "MESH:D016891", "MEDDRA:10036046", "NCIT:C84578", "SNOMEDCT:765330003", "medgen:88404", "icd11.foundation:91220434", "ICD10:Q61.3", "ICD9:753.12"], "information_content": 86.3}
{"id": "MONDO:0001300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autonomic neuropathy", "equivalent_identifiers": ["MONDO:0001300", "DOID:0060054", "DOID:11504", "UMLS:C0259749", "MEDDRA:10003841", "MEDDRA:10061666", "NCIT:C27033", "SNOMEDCT:277879009", "medgen:82621"], "information_content": 90.9}
{"id": "MONDO:0005340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia areata", "equivalent_identifiers": ["MONDO:0005340", "DOID:986", "EFO:0004192", "UMLS:C0002171", "UMLS:C1862862", "MESH:D000506", "MEDDRA:10001761", "SNOMEDCT:68225006", "medgen:213", "icd11.foundation:65720611", "ICD10:L63", "ICD9:704.01", "HP:0002232"], "information_content": 92.8}
{"id": "MONDO:0013400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency", "equivalent_identifiers": ["MONDO:0013400", "DOID:0050546", "OMIM:613743", "orphanet:168558", "UMLS:C3151055", "UMLS:C3502131", "MESH:C566130", "NCIT:C131422", "medgen:462405"], "information_content": 100.0}
{"id": "MONDO:0018479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital adrenal hyperplasia", "equivalent_identifiers": ["MONDO:0018479", "DOID:0050811", "orphanet:418", "UMLS:C0001627", "MESH:D000312", "MEDDRA:10010323", "NCIT:C34360", "SNOMEDCT:237751000", "medgen:7900", "icd11.foundation:172733763", "ICD10:E25", "ICD9:255.2", "HP:0008258"], "information_content": 82.6}
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{"id": "MONDO:0013252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Warsaw breakage syndrome", "equivalent_identifiers": ["MONDO:0013252", "DOID:0060535", "OMIM:613398", "orphanet:280558", "UMLS:C3150658", "NCIT:C164675", "SNOMEDCT:702829000", "medgen:462008", "icd11.foundation:833375162"], "information_content": 100.0}
{"id": "MONDO:0013523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nestor-Guillermo progeria syndrome", "equivalent_identifiers": ["MONDO:0013523", "DOID:0081334", "OMIM:614008", "orphanet:280576", "UMLS:C3151446", "SNOMEDCT:773331001", "medgen:462796"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2M5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2M5-1", "PR:Q9Y2M5-1", "ENSEMBL:ENSP00000209884", "ENSEMBL:ENSP00000209884.4"], "information_content": 100.0}
{"id": "NCBIGene:2327", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FMO2", "equivalent_identifiers": ["NCBIGene:2327", "ENSEMBL:ENSG00000094963", "HGNC:3770", "OMIM:603955", "UMLS:C1414644", "UniProtKB:B4E2Q9", "UniProtKB:Q99518", "PR:Q99518", "ENSEMBL:ENSP00000209929", "ENSEMBL:ENSP00000209929.8"], "information_content": 90.9}
{"id": "MONDO:0018767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe primary trimethylaminuria", "equivalent_identifiers": ["MONDO:0018767", "DOID:0080361", "OMIM:602079", "orphanet:468726", "UMLS:C5575503", "MESH:C536561", "SNOMEDCT:1237339005", "medgen:1814174"], "information_content": 100.0}
{"id": "UniProtKB:P49366-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deoxyhypusine synthase isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P49366-1", "PR:P49366-1", "ENSEMBL:ENSP00000210060", "ENSEMBL:ENSP00000210060.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULW5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-26 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULW5-1", "PR:Q9ULW5-1", "ENSEMBL:ENSP00000210187", "ENSEMBL:ENSP00000210187.6"], "information_content": 100.0}
{"id": "MONDO:0010949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2B", "equivalent_identifiers": ["MONDO:0010949", "DOID:0110159", "OMIM:600882", "orphanet:99936", "UMLS:C1833219", "MESH:C537989", "SNOMEDCT:717008005", "medgen:371512", "icd11.foundation:1425224652"], "information_content": 100.0}
{"id": "UniProtKB:Q16401-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome non-ATPase regulatory subunit 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16401-1", "PR:Q16401-1", "ENSEMBL:ENSP00000210313", "ENSEMBL:ENSP00000210313.2"], "information_content": 100.0}
{"id": "MONDO:0014591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Robinow syndrome 2", "equivalent_identifiers": ["MONDO:0014591", "DOID:0060765", "OMIM:616331", "UMLS:C4225363", "medgen:897039"], "information_content": 100.0}
{"id": "NCBIGene:54187", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NANS", "equivalent_identifiers": ["NCBIGene:54187", "ENSEMBL:ENSG00000095380", "HGNC:19237", "OMIM:605202", "UMLS:C1426104", "UniProtKB:Q9NR45", "PR:Q9NR45", "ENSEMBL:ENSP00000210444", "ENSEMBL:ENSP00000210444.5", "UMLS:C1433790"], "information_content": 89.4}
{"id": "MONDO:0011603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GNE myopathy", "equivalent_identifiers": ["MONDO:0011603", "DOID:0080718", "OMIM:605820", "orphanet:602", "UMLS:C1833373", "UMLS:C1853926", "MESH:C536816", "MESH:C538329", "MEDDRA:10075048", "MEDDRA:10077945", "NCIT:C176900", "SNOMEDCT:702382000", "medgen:381298"], "information_content": 100.0}
{"id": "MONDO:0014353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 23", "equivalent_identifiers": ["MONDO:0014353", "DOID:0111953", "OMIM:615816", "orphanet:443811", "UMLS:C1857617", "UMLS:C4014371", "MESH:C565684", "NCIT:C126339", "SNOMEDCT:1187623009", "medgen:862808"], "information_content": 100.0}
{"id": "MONDO:0010028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sialuria", "equivalent_identifiers": ["MONDO:0010028", "DOID:3659", "OMIM:269921", "orphanet:3166", "UMLS:C0342853", "MESH:D029461", "MEDDRA:10067529", "SNOMEDCT:238051008", "medgen:137980", "icd11.foundation:154329034"], "information_content": 100.0}
{"id": "MONDO:0009345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histidinemia", "equivalent_identifiers": ["MONDO:0009345", "DOID:0060168", "OMIM:235800", "orphanet:2157", "UMLS:C0220992", "UMLS:C5886736", "MESH:C538320", "SNOMEDCT:124628005", "SNOMEDCT:410058007", "medgen:113135", "icd11.foundation:261052955", "HP:0010906"], "information_content": 95.4}
{"id": "MONDO:0003956", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kissing spine", "equivalent_identifiers": ["MONDO:0003956", "DOID:6643", "UMLS:C0158248", "MEDDRA:10023453", "MEDDRA:10078024", "SNOMEDCT:82304009", "medgen:510482", "ICD10:M48.2", "ICD9:721.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tryptase delta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZJ3-1", "PR:Q9BZJ3-1", "ENSEMBL:ENSP00000211076", "ENSEMBL:ENSP00000211076.3"], "information_content": 100.0}
{"id": "DOID:0080712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gene duplication disease", "equivalent_identifiers": ["DOID:0080712"]}
{"id": "MONDO:0012869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 22", "equivalent_identifiers": ["MONDO:0012869", "DOID:0070052", "OMIM:612337", "UMLS:C2676727", "MESH:C567346"], "information_content": 100.0}
{"id": "MONDO:0005492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urticaria", "equivalent_identifiers": ["MONDO:0005492", "DOID:1555", "EFO:0005531", "UMLS:C0029839", "UMLS:C0042109", "UMLS:C0221232", "UMLS:C1536459", "MESH:D014581", "MEDDRA:10020197", "MEDDRA:10029220", "MEDDRA:10037896", "MEDDRA:10046219", "MEDDRA:10046735", "MEDDRA:10046736", "MEDDRA:10046749", "MEDDRA:10046756", "MEDDRA:10046758", "MEDDRA:10046760", "MEDDRA:10046761", "MEDDRA:10047906", "MEDDRA:10047918", "NCIT:C3432", "NCIT:C50811", "SNOMEDCT:126485001", "SNOMEDCT:247472004", "SNOMEDCT:64305001", "medgen:22587", "ICD9:708.8", "HP:0001025"], "information_content": 73.8}
{"id": "NCBIGene:2940", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSTA3", "equivalent_identifiers": ["NCBIGene:2940", "ENSEMBL:ENSG00000174156", "HGNC:4628", "OMIM:605449", "UMLS:C1415330", "UniProtKB:Q16772", "PR:Q16772", "ENSEMBL:ENSP00000211122", "ENSEMBL:ENSP00000211122.3", "UniProtKB:Q5JW85", "ENSEMBL:ENSP00000360007", "ENSEMBL:ENSP00000360007.1"], "information_content": 90.9}
{"id": "MONDO:0008145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ollier disease", "equivalent_identifiers": ["MONDO:0008145", "DOID:4624", "OMIM:166000", "OMIM:614569", "orphanet:296", "UMLS:C0013366", "UMLS:C0014084", "UMLS:C0024454", "MESH:D004687", "MEDDRA:10013891", "MEDDRA:10014642", "MEDDRA:10078027", "MEDDRA:10083007", "NCIT:C3008", "NCIT:C3213", "SNOMEDCT:268274005", "SNOMEDCT:46041001", "medgen:41775", "HP:0005701"], "information_content": 92.8}
{"id": "UniProtKB:O15264-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase 13 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15264-1", "PR:O15264-1", "ENSEMBL:ENSP00000211287", "ENSEMBL:ENSP00000211287.4"], "information_content": 100.0}
{"id": "UniProtKB:Q99946-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich transmembrane protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99946-1", "PR:Q99946-1", "ENSEMBL:ENSP00000211413", "ENSEMBL:ENSP00000211413.5", "ENSEMBL:ENSP00000389058", "ENSEMBL:ENSP00000389058.2", "ENSEMBL:ENSP00000396427", "ENSEMBL:ENSP00000396427.2", "ENSEMBL:ENSP00000397896", "ENSEMBL:ENSP00000397896.2", "ENSEMBL:ENSP00000398252", "ENSEMBL:ENSP00000398252.2", "ENSEMBL:ENSP00000398756", "ENSEMBL:ENSP00000398756.2", "ENSEMBL:ENSP00000405389", "ENSEMBL:ENSP00000405389.2", "ENSEMBL:ENSP00000414711", "ENSEMBL:ENSP00000414711.2"], "information_content": 100.0}
{"id": "MONDO:0024377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "circadian rhythm sleep disorder, delayed sleep phase type", "equivalent_identifiers": ["MONDO:0024377", "DOID:0111141", "UMLS:C0393770", "NCIT:C95073", "SNOMEDCT:80623000", "medgen:97962"], "information_content": 100.0}
{"id": "MONDO:0011777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease 8", "equivalent_identifiers": ["MONDO:0011777", "DOID:0110041", "OMIM:607116", "UMLS:C1846735", "MESH:C564622", "medgen:375956"], "information_content": 100.0}
{"id": "MONDO:0009722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bailey-Bloch congenital myopathy", "equivalent_identifiers": ["MONDO:0009722", "DOID:0060346", "OMIM:255995", "orphanet:168572", "UMLS:C1850625", "MESH:C538343", "SNOMEDCT:723439002", "medgen:340586"], "information_content": 100.0}
{"id": "NCBIGene:7738", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF184", "equivalent_identifiers": ["NCBIGene:7738", "ENSEMBL:ENSG00000096654", "HGNC:12975", "OMIM:602277", "UMLS:C1421674", "UniProtKB:Q99676", "PR:Q99676", "ENSEMBL:ENSP00000211936", "ENSEMBL:ENSP00000211936.6", "ENSEMBL:ENSP00000366636", "ENSEMBL:ENSP00000366636.1", "ENSEMBL:ENSP00000508298", "ENSEMBL:ENSP00000508298.1"], "information_content": 100.0}
{"id": "MONDO:0005937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "REM sleep behavior disorder", "equivalent_identifiers": ["MONDO:0005937", "DOID:9091", "EFO:0007462", "UMLS:C0751772", "MESH:D020187", "MEDDRA:10077299", "MEDDRA:10077300", "MEDDRA:10078722", "MEDDRA:10078725", "SNOMEDCT:415238003", "medgen:199730", "ICD10:G47.52", "ICD9:327.42", "HP:5200291"], "information_content": 95.4}
{"id": "UniProtKB:P18206-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vinculin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P18206-1", "PR:P18206-1", "ENSEMBL:ENSP00000211998", "ENSEMBL:ENSP00000211998.5"], "information_content": 100.0}
{"id": "MONDO:0015131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency", "equivalent_identifiers": ["MONDO:0015131", "DOID:0111962", "DOID:628", "orphanet:101972", "UMLS:C0494261", "UMLS:C2711630", "MEDDRA:10010098", "MEDDRA:10010099", "MEDDRA:10010100", "NCIT:C27871", "SNOMEDCT:442459007", "medgen:751396", "icd11.foundation:1616506198", "ICD10:D81", "ICD9:279.2", "HP:0005387"], "information_content": 70.2}
{"id": "UniProtKB:Q96EB6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NAD-dependent protein deacetylase sirtuin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EB6-1", "PR:Q96EB6-1", "ENSEMBL:ENSP00000212015", "ENSEMBL:ENSP00000212015.6"], "information_content": 100.0}
{"id": "MONDO:0004821", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasopharyngeal disorder", "equivalent_identifiers": ["MONDO:0004821", "DOID:9561", "UMLS:C0027438", "MESH:D009302", "MEDDRA:10057538", "NCIT:C35723", "SNOMEDCT:123952009", "medgen:45007"], "information_content": 70.0}
{"id": "MONDO:0000489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetic encephalopathy", "equivalent_identifiers": ["MONDO:0000489", "DOID:0050850", "UMLS:C1868773", "MEDDRA:10067018", "medgen:1806599"], "information_content": 100.0}
{"id": "MONDO:0022687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar degeneration", "equivalent_identifiers": ["MONDO:0022687", "DOID:1443", "UMLS:C0262404", "UMLS:C0740279", "UMLS:C4020873", "MEDDRA:10008027", "NCIT:C84624", "SNOMEDCT:95646004", "medgen:75496", "ICD9:331.9", "HP:0001272"], "information_content": 65.8}
{"id": "UniProtKB:Q03167-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transforming growth factor beta receptor type 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q03167-1", "PR:Q03167-1", "ENSEMBL:ENSP00000212355", "ENSEMBL:ENSP00000212355.4", "ENSEMBL:ENSP00000436127", "ENSEMBL:ENSP00000436127.1"], "information_content": 100.0}
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{"id": "MONDO:0013355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital dyserythropoietic anemia type 4", "equivalent_identifiers": ["MONDO:0013355", "DOID:0111400", "OMIM:613673", "orphanet:293825", "UMLS:C3150926", "NCIT:C157148", "SNOMEDCT:719453009", "medgen:462276"], "information_content": 100.0}
{"id": "UniProtKB:P28698-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myeloid zinc finger 1 isoform hMZF1A (human)", "equivalent_identifiers": ["UniProtKB:P28698-1", "PR:P28698-1", "ENSEMBL:ENSP00000215057", "ENSEMBL:ENSP00000215057.1", "ENSEMBL:ENSP00000469493", "ENSEMBL:ENSP00000469493.1"], "information_content": 100.0}
{"id": "MONDO:0010206", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 8", "equivalent_identifiers": ["MONDO:0010206", "DOID:0110705", "OMIM:278150", "UMLS:C3279470", "MESH:C566950", "medgen:481100"], "information_content": 100.0}
{"id": "NCBIGene:79629", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OCEL1", "equivalent_identifiers": ["NCBIGene:79629", "ENSEMBL:ENSG00000099330", "HGNC:26221", "UMLS:C1826506", "UniProtKB:M0R0F7", "ENSEMBL:ENSP00000471201", "ENSEMBL:ENSP00000471201.1", "UniProtKB:Q9H607", "PR:Q9H607", "ENSEMBL:ENSP00000215061", "ENSEMBL:ENSP00000215061.3"], "information_content": 100.0}
{"id": "MONDO:0010568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aicardi syndrome", "equivalent_identifiers": ["MONDO:0010568", "DOID:8461", "OMIM:304050", "orphanet:50", "UMLS:C0175713", "MESH:D058540", "MEDDRA:10054935", "NCIT:C35256", "SNOMEDCT:80651009", "medgen:61236", "icd11.foundation:2057245946"], "information_content": 100.0}
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{"id": "NCBIGene:1943", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EFNA2", "equivalent_identifiers": ["NCBIGene:1943", "ENSEMBL:ENSG00000099617", "HGNC:3222", "OMIM:602756", "UMLS:C1414301", "UniProtKB:O43921", "PR:O43921", "ENSEMBL:ENSP00000215368", "ENSEMBL:ENSP00000215368.1"], "information_content": 100.0}
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{"id": "MONDO:0032607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vertebral anomalies and variable endocrine and T-cell dysfunction", "equivalent_identifiers": ["MONDO:0032607", "DOID:0070345", "OMIM:618223", "UMLS:C4748741", "medgen:1648299"], "information_content": 100.0}
{"id": "NCBIGene:27006", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGF22", "equivalent_identifiers": ["NCBIGene:27006", "ENSEMBL:ENSG00000070388", "HGNC:3679", "OMIM:605831", "UMLS:C1414604", "UniProtKB:K7ELB9", "ENSEMBL:ENSP00000466004", "ENSEMBL:ENSP00000466004.1", "UniProtKB:Q9HCT0", "PR:Q9HCT0", "ENSEMBL:ENSP00000215530", "ENSEMBL:ENSP00000215530.4", "UMLS:C4049603", "MESH:C000627735"], "information_content": 95.4}
{"id": "NCBIGene:4713", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFB7", "equivalent_identifiers": ["NCBIGene:4713", "ENSEMBL:ENSG00000099795", "HGNC:7702", "OMIM:603842", "UMLS:C1417639", "UniProtKB:P17568", "PR:P17568", "ENSEMBL:ENSP00000215565", "ENSEMBL:ENSP00000215565.1", "UMLS:C1309508", "MESH:C409164"], "information_content": 88.2}
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{"id": "UniProtKB:Q9NZ01-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "very-long-chain enoyl-CoA reductase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZ01-1", "PR:Q9NZ01-1", "ENSEMBL:ENSP00000215567", "ENSEMBL:ENSP00000215567.4"], "information_content": 100.0}
{"id": "NCBIGene:26517", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMM13", "equivalent_identifiers": ["NCBIGene:26517", "ENSEMBL:ENSG00000099800", "HGNC:11816", "OMIM:607383", "UMLS:C1420739", "UniProtKB:Q9Y5L4", "PR:Q9Y5L4", "ENSEMBL:ENSP00000215570", "ENSEMBL:ENSP00000215570.2", "UMLS:C1436754", "MESH:C485737"], "information_content": 95.4}
{"id": "MONDO:0001385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortical blindness", "equivalent_identifiers": ["MONDO:0001385", "DOID:11831", "UMLS:C0155320", "MESH:D019575", "MEDDRA:10005177", "MEDDRA:10011165", "NCIT:C118707", "SNOMEDCT:68574006", "medgen:57834", "ICD10:H47.61", "ICD9:377.75"], "information_content": 100.0}
{"id": "MONDO:0014976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0014976", "DOID:0111488", "OMIM:617228", "orphanet:478049", "UMLS:C4310661", "medgen:934628"], "information_content": 100.0}
{"id": "NCBIGene:997", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC34", "equivalent_identifiers": ["NCBIGene:997", "ENSEMBL:ENSG00000099804", "HGNC:1734", "OMIM:116948", "UMLS:C1413263", "UniProtKB:P49427", "PR:P49427", "ENSEMBL:ENSP00000215574", "ENSEMBL:ENSP00000215574.2", "UMLS:C3540505", "MESH:C577447"], "information_content": 100.0}
{"id": "NCBIGene:126353", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MISP", "equivalent_identifiers": ["NCBIGene:126353", "ENSEMBL:ENSG00000099812", "HGNC:27000", "OMIM:615289", "UMLS:C1428639", "UniProtKB:Q8IVT2", "PR:Q8IVT2", "ENSEMBL:ENSP00000215582", "ENSEMBL:ENSP00000215582.4", "UMLS:C3657422", "MESH:C581267"], "information_content": 100.0}
{"id": "NCBIGene:4616", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GADD45B", "equivalent_identifiers": ["NCBIGene:4616", "ENSEMBL:ENSG00000099860", "HGNC:4096", "OMIM:604948", "UMLS:C1414928", "UniProtKB:O75293", "PR:O75293", "ENSEMBL:ENSP00000215631", "ENSEMBL:ENSP00000215631.3", "UMLS:C1504732", "UMLS:C3814411", "MESH:C086470"], "information_content": 95.4}
{"id": "UniProtKB:Q13477-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mucosal addressin cell adhesion molecule 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13477-1", "PR:Q13477-1", "ENSEMBL:ENSP00000215637", "ENSEMBL:ENSP00000215637.2"], "information_content": 95.4}
{"id": "UniProtKB:P53778-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase 12 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P53778-1", "PR:P53778-1", "ENSEMBL:ENSP00000215659", "ENSEMBL:ENSP00000215659.8"], "information_content": 100.0}
{"id": "UniProtKB:P05546-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heparin cofactor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P05546-1", "PR:P05546-1", "ENSEMBL:ENSP00000215727", "ENSEMBL:ENSP00000215727.5", "ENSEMBL:ENSP00000384050", "ENSEMBL:ENSP00000384050.1"], "information_content": 100.0}
{"id": "MONDO:0042487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uterine cervix carcinoma in situ", "equivalent_identifiers": ["MONDO:0042487", "DOID:8991", "UMLS:C0851140", "UMLS:C4721915", "MESH:D018290", "MEDDRA:10007324", "MEDDRA:10007363", "MEDDRA:10007364", "MEDDRA:10007494", "MEDDRA:10008232", "MEDDRA:10008237", "MEDDRA:10008343", "MEDDRA:10009215", "MEDDRA:10021571", "MEDDRA:10046771", "MEDDRA:10049702", "MEDDRA:10059383", "MEDDRA:10061809", "NCIT:C4000", "SNOMEDCT:254889004", "SNOMEDCT:92564006", "medgen:163094", "ICD10:D06", "ICD9:233.1"], "information_content": 100.0}
{"id": "MONDO:0002974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical cancer", "equivalent_identifiers": ["MONDO:0002974", "DOID:4362", "OMIM:603956", "UMLS:C0007847", "UMLS:C4048328", "MEDDRA:10008229", "MEDDRA:10008230", "MEDDRA:10025831", "MEDDRA:10025837", "NCIT:C9311", "SNOMEDCT:363354003", "medgen:890252", "ICD10:C53", "ICD9:180", "HP:0030079"], "information_content": 63.8}
{"id": "MONDO:0002345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervicitis", "equivalent_identifiers": ["MONDO:0002345", "DOID:2568", "UMLS:C0007860", "UMLS:C0007861", "MESH:D002575", "MEDDRA:10008323", "MEDDRA:10008331", "MEDDRA:10068402", "NCIT:C26716", "SNOMEDCT:198199009", "SNOMEDCT:37610005", "medgen:3338", "icd11.foundation:1433247301", "ICD10:N72", "ICD9:616.0", "HP:0030160"], "information_content": 86.3}
{"id": "MONDO:0012691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LEOPARD syndrome 2", "equivalent_identifiers": ["MONDO:0012691", "DOID:0080549", "OMIM:611554", "UMLS:C1969056", "MESH:C537117", "medgen:370588"], "information_content": 100.0}
{"id": "MONDO:0012020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 22q11.2 microduplication syndrome", "equivalent_identifiers": ["MONDO:0012020", "DOID:0060436", "OMIM:608363", "orphanet:1727", "UMLS:C2675369", "MESH:C567224", "SNOMEDCT:699311001", "medgen:436417"], "information_content": 95.4}
{"id": "NCBIGene:9342", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNAP29", "equivalent_identifiers": ["NCBIGene:9342", "ENSEMBL:ENSG00000099940", "HGNC:11133", "OMIM:604202", "UMLS:C1420271", "UniProtKB:O95721", "PR:O95721", "ENSEMBL:ENSP00000215730", "ENSEMBL:ENSP00000215730.6", "UMLS:C1448063", "MESH:C432420"], "information_content": 78.3}
{"id": "MONDO:0010959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "van den Ende-Gupta syndrome", "equivalent_identifiers": ["MONDO:0010959", "DOID:0111699", "OMIM:600920", "orphanet:2460", "UMLS:C1833136", "MESH:C535909", "SNOMEDCT:719845008", "medgen:322127", "icd11.foundation:1740735985"], "information_content": 100.0}
{"id": "MONDO:0009276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bernard-Soulier syndrome", "equivalent_identifiers": ["MONDO:0009276", "DOID:2217", "OMIM:231200", "orphanet:274", "UMLS:C0005129", "UMLS:C1856447", "UMLS:C1856448", "UMLS:C2713537", "UMLS:C3278148", "MESH:C565549", "MESH:C565550", "MESH:D001606", "MEDDRA:10057473", "NCIT:C84595", "SNOMEDCT:234478007", "SNOMEDCT:54569005", "medgen:2212", "icd11.foundation:507309898"], "information_content": 95.4}
{"id": "MONDO:0100115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute flaccid myelitis", "equivalent_identifiers": ["MONDO:0100115", "DOID:0080947", "orphanet:623801", "UMLS:C4290000", "MESH:C000629404", "MEDDRA:10082097", "NCIT:C128379", "SNOMEDCT:897031002", "medgen:927532"], "information_content": 100.0}
{"id": "MONDO:0012876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heparin cofactor 2 deficiency", "equivalent_identifiers": ["MONDO:0012876", "DOID:0111901", "OMIM:612356", "UMLS:C0398626", "MESH:C562865", "MEDDRA:10087332", "SNOMEDCT:234468009", "medgen:96017"], "information_content": 100.0}
{"id": "NCBIGene:80764", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THAP7", "equivalent_identifiers": ["NCBIGene:80764", "ENSEMBL:ENSG00000184436", "HGNC:23190", "OMIM:609518", "UMLS:C1427976", "UniProtKB:Q9BT49", "PR:Q9BT49", "ENSEMBL:ENSP00000215742", "ENSEMBL:ENSP00000215742.4", "ENSEMBL:ENSP00000382084", "ENSEMBL:ENSP00000382084.2", "UMLS:C1567449", "MESH:C498974"], "information_content": 95.4}
{"id": "MONDO:0013673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolfram-like syndrome", "equivalent_identifiers": ["MONDO:0013673", "DOID:0080584", "OMIM:614296", "orphanet:411590", "EFO:0009063", "UMLS:C3280358", "UMLS:C4518338", "MESH:C565631", "SNOMEDCT:734022008", "medgen:481988"], "information_content": 100.0}
{"id": "NCBIGene:4320", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP11", "equivalent_identifiers": ["NCBIGene:4320", "ENSEMBL:ENSG00000099953", "HGNC:7157", "OMIM:185261", "UMLS:C1366519", "UniProtKB:B3KQS8", "UniProtKB:P24347", "PR:P24347", "ENSEMBL:ENSP00000215743", "ENSEMBL:ENSP00000215743.3", "ENSEMBL:ENSP00000483349", "ENSEMBL:ENSP00000483349.1", "UMLS:C1723260", "MESH:C511771"], "information_content": 95.4}
{"id": "DOID:2934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aleutian mink disease", "equivalent_identifiers": ["DOID:2934", "UMLS:C0002016", "MESH:D000453", "SNOMEDCT:62251004"]}
{"id": "NCBIGene:4282", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MIF", "equivalent_identifiers": ["NCBIGene:4282", "ENSEMBL:ENSG00000240972", "HGNC:7097", "OMIM:153620", "UMLS:C1334507", "UniProtKB:I4AY87", "UniProtKB:P14174", "PR:P14174", "ENSEMBL:ENSP00000215754", "ENSEMBL:ENSP00000215754.7", "ENSEMBL:ENSP00000482779", "ENSEMBL:ENSP00000482779.1", "UMLS:C1870471", "MESH:C515598"], "information_content": 80.9}
{"id": "NCBIGene:100037417", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDTL", "equivalent_identifiers": ["NCBIGene:100037417", "ENSEMBL:ENSG00000099974", "HGNC:33446", "UMLS:C2239333", "UniProtKB:A6NHG4", "PR:A6NHG4", "ENSEMBL:ENSP00000215770", "ENSEMBL:ENSP00000215770.5", "ENSEMBL:ENSP00000479063", "ENSEMBL:ENSP00000479063.1"], "information_content": 100.0}
{"id": "MONDO:0013287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 2, autosomal recessive", "equivalent_identifiers": ["MONDO:0013287", "DOID:0060024", "DOID:0081135", "OMIM:613500", "UMLS:C3150750", "medgen:462100"], "information_content": 100.0}
{"id": "NCBIGene:5008", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OSM", "equivalent_identifiers": ["NCBIGene:5008", "ENSEMBL:ENSG00000099985", "HGNC:8506", "OMIM:165095", "UMLS:C1335093", "UniProtKB:B5MCX1", "ENSEMBL:ENSP00000383893", "ENSEMBL:ENSP00000383893.1", "UniProtKB:P13725", "PR:P13725", "ENSEMBL:ENSP00000215781", "ENSEMBL:ENSP00000215781.2", "UMLS:C1702221", "MESH:C508351"], "information_content": 86.3}
{"id": "UniProtKB:Q15459-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "splicing factor 3A subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15459-1", "PR:Q15459-1", "ENSEMBL:ENSP00000215793", "ENSEMBL:ENSP00000215793.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9UMW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ubl carboxyl-terminal hydrolase 18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMW8-1", "PR:Q9UMW8-1", "ENSEMBL:ENSP00000215794", "ENSEMBL:ENSP00000215794.7"], "information_content": 100.0}
{"id": "MONDO:0043275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TORCH syndrome", "equivalent_identifiers": ["MONDO:0043275", "DOID:0080835", "UMLS:C0270173", "MEDDRA:10082952", "MEDDRA:10082953", "NCIT:C98609", "SNOMEDCT:41679006", "medgen:78715"], "information_content": 100.0}
{"id": "MONDO:0014502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency", "equivalent_identifiers": ["MONDO:0014502", "DOID:0111934", "OMIM:616126", "orphanet:319563", "UMLS:C4015293", "medgen:863730"], "information_content": 100.0}
{"id": "UniProtKB:Q9UDX4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SEC14-like protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UDX4-1", "PR:Q9UDX4-1", "ENSEMBL:ENSP00000215812", "ENSEMBL:ENSP00000215812.5"], "information_content": 100.0}
{"id": "MONDO:0014441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 13", "equivalent_identifiers": ["MONDO:0014441", "DOID:0110135", "OMIM:615990", "UMLS:C2673873", "MESH:C567140", "medgen:393032"], "information_content": 100.0}
{"id": "MONDO:0001332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palindromic rheumatism", "equivalent_identifiers": ["MONDO:0001332", "DOID:1166", "UMLS:C0085574", "UMLS:C0158178", "MESH:C538103", "MEDDRA:10033534", "MEDDRA:10033542", "MEDDRA:10033544", "SNOMEDCT:202457009", "SNOMEDCT:50442003", "medgen:39080", "icd11.foundation:494875651", "ICD10:M12.3", "ICD9:719.3", "ICD9:719.31"], "information_content": 100.0}
{"id": "MONDO:0005960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "silicosis", "equivalent_identifiers": ["MONDO:0005960", "DOID:10325", "EFO:0007485", "UMLS:C0037116", "MESH:D012829", "MEDDRA:10040678", "NCIT:C3369", "SNOMEDCT:805002", "medgen:20758", "ICD10:J62.8", "ICD9:502"], "information_content": 92.8}
{"id": "UniProtKB:P62318-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small nuclear ribonucleoprotein Sm D3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62318-1", "PR:P62318-1", "ENSEMBL:ENSP00000215829", "ENSEMBL:ENSP00000215829.3"], "information_content": 100.0}
{"id": "MONDO:0005854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mixed connective tissue disease", "equivalent_identifiers": ["MONDO:0005854", "DOID:3492", "orphanet:809", "EFO:0007374", "UMLS:C0026272", "MESH:D008947", "MEDDRA:10026975", "MEDDRA:10027754", "MEDDRA:10049231", "NCIT:C84892", "SNOMEDCT:398021003", "SNOMEDCT:398049005", "medgen:10069", "icd11.foundation:891652224", "ICD10:M35.1"], "information_content": 100.0}
{"id": "UniProtKB:P28482-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P28482-1", "PR:P28482-1", "ENSEMBL:ENSP00000215832", "ENSEMBL:ENSP00000215832.7", "ENSEMBL:ENSP00000381803", "ENSEMBL:ENSP00000381803.3"], "information_content": 95.4}
{"id": "UniProtKB:P20062-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcobalamin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20062-1", "PR:P20062-1", "ENSEMBL:ENSP00000215838", "ENSEMBL:ENSP00000215838.3"], "information_content": 100.0}
{"id": "MONDO:0006873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malnutrition", "equivalent_identifiers": ["MONDO:0006873", "DOID:5113", "EFO:1001067", "UMLS:C0011156", "UMLS:C1285390", "UMLS:C4761312", "MESH:D003677", "MEDDRA:10046058", "MEDDRA:10085968", "NCIT:C157938", "NCIT:C3669", "SNOMEDCT:363246002", "SNOMEDCT:70241007", "medgen:1677627"], "information_content": 71.3}
{"id": "NCBIGene:1417", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRYBB3", "equivalent_identifiers": ["NCBIGene:1417", "ENSEMBL:ENSG00000100053", "HGNC:2400", "OMIM:123630", "UMLS:C1413732", "UniProtKB:P26998", "PR:P26998", "ENSEMBL:ENSP00000215855", "ENSEMBL:ENSP00000215855.2", "UMLS:C1609096", "MESH:C103908"], "information_content": 95.4}
{"id": "MONDO:0010545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nance-Horan syndrome", "equivalent_identifiers": ["MONDO:0010545", "DOID:0060599", "OMIM:302350", "orphanet:627", "UMLS:C0796085", "MESH:C538336", "SNOMEDCT:445257004", "medgen:208665", "icd11.foundation:938299000"], "information_content": 100.0}
{"id": "MONDO:0010554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Abruzzo-Erickson syndrome", "equivalent_identifiers": ["MONDO:0010554", "DOID:0111826", "OMIM:302905", "orphanet:921", "UMLS:C1844862", "MESH:C535559", "SNOMEDCT:718574003", "medgen:375529"], "information_content": 100.0}
{"id": "MONDO:0001476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coloboma", "equivalent_identifiers": ["MONDO:0001476", "DOID:12270", "UMLS:C0009363", "MESH:D003103", "MEDDRA:10009934", "MEDDRA:10009937", "NCIT:C98877", "SNOMEDCT:92828000", "SNOMEDCT:93390002", "medgen:1046", "ICD10:Q13.0", "HP:0000589"], "information_content": 78.5}
{"id": "MONDO:0000942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal disease", "equivalent_identifiers": ["MONDO:0000942", "DOID:10124", "EFO:0009464", "UMLS:C0010034", "MESH:D003316", "MEDDRA:10011003", "MEDDRA:10013209", "MEDDRA:10061453", "NCIT:C26731", "SNOMEDCT:15250008", "medgen:3617", "ICD10:H18.9", "ICD9:371.9"], "information_content": 66.5}
{"id": "MONDO:0010952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary hyperferritinemia with congenital cataracts", "equivalent_identifiers": ["MONDO:0010952", "DOID:0111256", "OMIM:600886", "orphanet:163", "UMLS:C1833213", "MESH:C538137", "SNOMEDCT:702398007", "medgen:318812"], "information_content": 100.0}
{"id": "MONDO:8000008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Martsolf syndrome 1", "equivalent_identifiers": ["MONDO:8000008", "DOID:0111586", "OMIM:212720", "orphanet:1387", "UMLS:C5542298", "MESH:C536028", "SNOMEDCT:722380003", "medgen:1778114"], "information_content": 100.0}
{"id": "NCBIGene:6576", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A1", "equivalent_identifiers": ["NCBIGene:6576", "ENSEMBL:ENSG00000100075", "HGNC:10979", "OMIM:190315", "UMLS:C1420150", "UniProtKB:D3DX16", "ENSEMBL:ENSP00000401480", "ENSEMBL:ENSP00000401480.1", "UniProtKB:D9HTE9", "UniProtKB:P53007", "PR:P53007", "ENSEMBL:ENSP00000215882", "ENSEMBL:ENSP00000215882.5"], "information_content": 90.9}
{"id": "MONDO:0014072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "D,L-2-hydroxyglutaric aciduria", "equivalent_identifiers": ["MONDO:0014072", "DOID:0111619", "OMIM:615182", "orphanet:356978", "UMLS:C5574940", "SNOMEDCT:713401006", "medgen:1802316"], "information_content": 100.0}
{"id": "MONDO:0010924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "D-2-hydroxyglutaric aciduria", "equivalent_identifiers": ["MONDO:0010924", "DOID:0050575", "OMIM.PS:600721", "orphanet:79315", "UMLS:C1833429", "SNOMEDCT:237960000", "medgen:322192", "icd11.foundation:1170122566", "HP:0012321"], "information_content": 92.8}
{"id": "MONDO:0023419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperprolinemia", "equivalent_identifiers": ["MONDO:0023419", "DOID:0080541", "UMLS:C0268528", "MEDDRA:10058509", "MEDDRA:10058515", "SNOMEDCT:59655002", "medgen:75690", "HP:0008358"], "information_content": 92.8}
{"id": "MONDO:0013025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 6q24-q25 deletion syndrome", "equivalent_identifiers": ["MONDO:0013025", "DOID:0060424", "OMIM:612863", "orphanet:251056", "UMLS:C3150215", "UMLS:C4304527", "SNOMEDCT:719663005", "medgen:461565"], "information_content": 100.0}
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{"id": "NCBIGene:3957", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LGALS2", "equivalent_identifiers": ["NCBIGene:3957", "ENSEMBL:ENSG00000100079", "HGNC:6562", "OMIM:150571", "UMLS:C1416830", "UniProtKB:P05162", "PR:P05162", "ENSEMBL:ENSP00000215886", "ENSEMBL:ENSP00000215886.4", "UMLS:C1723418", "MESH:C511926"], "information_content": 95.4}
{"id": "UniProtKB:Q96GD0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000215904", "equivalent_identifiers": ["UniProtKB:Q96GD0-1", "ENSEMBL:ENSP00000215904", "ENSEMBL:ENSP00000215904.6"]}
{"id": "MONDO:0012407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyridoxal phosphate-responsive seizures", "equivalent_identifiers": ["MONDO:0012407", "DOID:0111329", "OMIM:610090", "orphanet:79096", "UMLS:C1864723", "MESH:C566449", "SNOMEDCT:724576005", "medgen:350498", "icd11.foundation:1632334328", "icd11.foundation:604024463"], "information_content": 100.0}
{"id": "NCBIGene:57168", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASPHD2", "equivalent_identifiers": ["NCBIGene:57168", "ENSEMBL:ENSG00000128203", "HGNC:30437", "UMLS:C1825091", "UniProtKB:Q6ICH7", "PR:Q6ICH7", "ENSEMBL:ENSP00000215906", "ENSEMBL:ENSP00000215906.5"], "information_content": 100.0}
{"id": "NCBIGene:3956", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LGALS1", "equivalent_identifiers": ["NCBIGene:3956", "ENSEMBL:ENSG00000100097", "HGNC:6561", "OMIM:150570", "UMLS:C1416829", "UniProtKB:A0A384MR27", "UniProtKB:P09382", "PR:P09382", "ENSEMBL:ENSP00000215909", "ENSEMBL:ENSP00000215909.5", "UMLS:C0252524", "MESH:C445499"], "information_content": 86.3}
{"id": "MONDO:0005119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anthrax disease", "equivalent_identifiers": ["MONDO:0005119", "DOID:7427", "EFO:0000778", "UMLS:C0003175", "MESH:D000881", "MEDDRA:10002713", "MEDDRA:10002716", "MEDDRA:10003975", "NCIT:C84565", "SNOMEDCT:409498004", "medgen:8110", "ICD10:A22", "ICD9:022"], "information_content": 88.2}
{"id": "UniProtKB:Q96FE7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoinositide-3-kinase-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FE7-1", "PR:Q96FE7-1", "ENSEMBL:ENSP00000215912", "ENSEMBL:ENSP00000215912.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6NXT1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 54 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NXT1-1", "PR:Q6NXT1-1", "ENSEMBL:ENSP00000215941", "ENSEMBL:ENSP00000215941.4"], "information_content": 100.0}
{"id": "NCBIGene:85377", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MICALL1", "equivalent_identifiers": ["NCBIGene:85377", "ENSEMBL:ENSG00000100139", "HGNC:29804", "OMIM:619563", "UMLS:C1825989", "UniProtKB:A0A7P0T9P2", "ENSEMBL:ENSP00000505762", "ENSEMBL:ENSP00000505762.1", "UniProtKB:B0QY86", "ENSEMBL:ENSP00000404543", "ENSEMBL:ENSP00000404543.2", "UniProtKB:B0QY91", "ENSEMBL:ENSP00000416766", "ENSEMBL:ENSP00000416766.2", "UniProtKB:Q8N3F8", "PR:Q8N3F8", "ENSEMBL:ENSP00000215957", "ENSEMBL:ENSP00000215957.6"], "information_content": 95.4}
{"id": "MONDO:0009635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microvillus inclusion disease", "equivalent_identifiers": ["MONDO:0009635", "DOID:0060775", "OMIM:251850", "orphanet:2290", "UMLS:C0341306", "MESH:C537470", "MEDDRA:10068494", "MEDDRA:10068504", "SNOMEDCT:235729009", "medgen:137954", "ICD10:P78.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSP4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centromere protein M isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSP4-1", "PR:Q9NSP4-1", "ENSEMBL:ENSP00000215980", "ENSEMBL:ENSP00000215980.5"], "information_content": 100.0}
{"id": "MONDO:0013182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 17p13.3 duplication syndrome", "equivalent_identifiers": ["MONDO:0013182", "DOID:0060432", "OMIM:613215", "orphanet:217385", "UMLS:C2750748", "UMLS:C3808300", "UMLS:C4304641", "MESH:C567705", "SNOMEDCT:719582007", "medgen:814630"], "information_content": 100.0}
{"id": "UniProtKB:Q14565-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "meiotic recombination protein DMC1/LIM15 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14565-1", "PR:Q14565-1", "ENSEMBL:ENSP00000216024", "ENSEMBL:ENSP00000216024.2"], "information_content": 100.0}
{"id": "MONDO:0100459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "azoospermia", "equivalent_identifiers": ["MONDO:0100459", "DOID:14227", "UMLS:C0004509", "UMLS:C1704202", "MESH:D053713", "MESH:D053714", "MEDDRA:10003495", "MEDDRA:10003883", "NCIT:C80076", "SNOMEDCT:425558002", "SNOMEDCT:448921000", "SNOMEDCT:48188009", "medgen:2150", "icd11.foundation:532688254", "ICD10:N46.0", "ICD9:606.0", "HP:0000027"], "information_content": 88.2}
{"id": "NCBIGene:150274", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSCB", "equivalent_identifiers": ["NCBIGene:150274", "ENSEMBL:ENSG00000100209", "HGNC:28913", "OMIM:608142", "UMLS:C1825526", "UniProtKB:B0QYH2", "ENSEMBL:ENSP00000381914", "ENSEMBL:ENSP00000381914.2", "ENSEMBL:ENSP00000416679", "ENSEMBL:ENSP00000416679.1", "UniProtKB:Q8IWL3", "PR:Q8IWL3", "ENSEMBL:ENSP00000216027", "ENSEMBL:ENSP00000216027.3"], "information_content": 95.4}
{"id": "MONDO:0100339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Friedreich ataxia", "equivalent_identifiers": ["MONDO:0100339", "DOID:12705", "orphanet:95", "UMLS:C0016719", "MESH:D005621", "MEDDRA:10017374", "NCIT:C84718", "SNOMEDCT:10394003", "medgen:5276", "icd11.foundation:980686666", "ICD10:G11.11", "ICD9:334.0"], "information_content": 90.9}
{"id": "MONDO:0003608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy", "equivalent_identifiers": ["MONDO:0003608", "DOID:5723", "UMLS:C0029124", "MESH:D009896", "MEDDRA:10003714", "MEDDRA:10003715", "MEDDRA:10030910", "MEDDRA:10030912", "NCIT:C34863", "SNOMEDCT:76976005", "medgen:18180", "icd11.foundation:568505454", "ICD10:H47.2", "ICD9:377.1", "HP:0000648"], "information_content": 77.1}
{"id": "NCBIGene:56993", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOMM22", "equivalent_identifiers": ["NCBIGene:56993", "ENSEMBL:ENSG00000100216", "HGNC:18002", "OMIM:607046", "UMLS:C1425230", "UniProtKB:Q549C5", "UMLS:C1434898", "MESH:C489971", "UniProtKB:Q9NS69", "PR:Q9NS69", "ENSEMBL:ENSP00000216034", "ENSEMBL:ENSP00000216034.4"], "information_content": 95.4}
{"id": "NCBIGene:27156", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RSPH14", "equivalent_identifiers": ["NCBIGene:27156", "ENSEMBL:ENSG00000100218", "HGNC:13437", "OMIM:605663", "UMLS:C1421992", "UniProtKB:Q9UHP6", "PR:Q9UHP6", "ENSEMBL:ENSP00000216036", "ENSEMBL:ENSP00000216036.4"], "information_content": 100.0}
{"id": "MONDO:0010121", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia-absent radius syndrome", "equivalent_identifiers": ["MONDO:0010121", "DOID:14699", "OMIM:274000", "orphanet:3320", "UMLS:C0175703", "MESH:C536940", "MEDDRA:10071719", "MEDDRA:10071720", "NCIT:C99038", "SNOMEDCT:85589009", "medgen:61235"], "information_content": 100.0}
{"id": "MONDO:0010164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phocomelia, Schinzel type", "equivalent_identifiers": ["MONDO:0010164", "DOID:0112181", "OMIM:276820", "orphanet:2879", "UMLS:C1848651", "MESH:C535612", "SNOMEDCT:715522000", "medgen:336388", "icd11.foundation:1732271544"], "information_content": 100.0}
{"id": "MONDO:0006186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duodenal Cancer", "equivalent_identifiers": ["MONDO:0006186", "DOID:10816", "EFO:1000223", "UMLS:C0278804", "UMLS:C0541912", "MEDDRA:10007340", "MEDDRA:10013815", "MEDDRA:10013818", "MEDDRA:10013821", "MEDDRA:10013824", "NCIT:C7889", "SNOMEDCT:408644002", "medgen:82985", "HP:0006771"], "information_content": 88.2}
{"id": "MONDO:0002728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhabdoid tumor", "equivalent_identifiers": ["MONDO:0002728", "DOID:3672", "OMIM:609322", "orphanet:69077", "EFO:0005701", "UMLS:C0206743", "UMLS:C1836326", "UMLS:C1836327", "UMLS:C2750405", "MESH:C563737", "MESH:C563738", "MESH:D018335", "MEDDRA:10073334", "MEDDRA:10073335", "NCIT:C178393", "NCIT:C3808", "SNOMEDCT:1156418001", "SNOMEDCT:83118000", "medgen:64646", "HP:0034557"], "information_content": 75.3}
{"id": "UniProtKB:P17861-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "X-box-binding protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P17861-1", "PR:P17861-1", "ENSEMBL:ENSP00000216037", "ENSEMBL:ENSP00000216037.6"], "information_content": 100.0}
{"id": "NCBIGene:51493", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTCB", "equivalent_identifiers": ["NCBIGene:51493", "ENSEMBL:ENSG00000100220", "HGNC:26935", "OMIM:613901", "UMLS:C1824509", "UniProtKB:Q9Y3I0", "PR:Q9Y3I0", "ENSEMBL:ENSP00000216038", "ENSEMBL:ENSP00000216038.5", "UMLS:C3179848", "MESH:C556193"], "information_content": 92.8}
{"id": "NCBIGene:9929", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JOSD1", "equivalent_identifiers": ["NCBIGene:9929", "ENSEMBL:ENSG00000100221", "HGNC:28953", "OMIM:615323", "UMLS:C1825638", "UniProtKB:Q15040", "PR:Q15040", "ENSEMBL:ENSP00000216039", "ENSEMBL:ENSP00000216039.5", "ENSEMBL:ENSP00000506752", "ENSEMBL:ENSP00000506752.1"], "information_content": 95.4}
{"id": "NCBIGene:9567", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GTPBP1", "equivalent_identifiers": ["NCBIGene:9567", "ENSEMBL:ENSG00000100226", "HGNC:4669", "OMIM:602245", "UMLS:C1415351", "UniProtKB:O00178", "PR:O00178", "ENSEMBL:ENSP00000216044", "ENSEMBL:ENSP00000216044.5", "UMLS:C1430718", "MESH:C105125"], "information_content": 90.9}
{"id": "MONDO:0017875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bolivian hemorrhagic fever", "equivalent_identifiers": ["MONDO:0017875", "DOID:0050195", "orphanet:319229", "UMLS:C0282192", "MEDDRA:10005932", "MEDDRA:10055233", "SNOMEDCT:67247008", "medgen:76386", "icd11.foundation:1780467429"], "information_content": 100.0}
{"id": "MONDO:0017874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Argentine hemorrhagic fever", "equivalent_identifiers": ["MONDO:0017874", "DOID:0050194", "orphanet:319223", "UMLS:C0019097", "MEDDRA:10003090", "MEDDRA:10023247", "MEDDRA:10055229", "MEDDRA:10080470", "MEDDRA:10080479", "SNOMEDCT:58868000", "SNOMEDCT:721778009", "medgen:9211", "icd11.foundation:257166193"], "information_content": 100.0}
{"id": "MONDO:0017876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Venezuelan hemorrhagic fever", "equivalent_identifiers": ["MONDO:0017876", "DOID:0050196", "orphanet:319234", "UMLS:C0042470", "SNOMEDCT:359673001", "medgen:508283", "icd11.foundation:356743940"], "information_content": 100.0}
{"id": "MONDO:0017877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brazilian hemorrhagic fever", "equivalent_identifiers": ["MONDO:0017877", "DOID:0050197", "orphanet:319239", "UMLS:C0343633", "SNOMEDCT:240524001", "medgen:575736"], "information_content": 100.0}
{"id": "MONDO:0020500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marburg hemorrhagic fever", "equivalent_identifiers": ["MONDO:0020500", "DOID:4327", "orphanet:99826", "EFO:0007358", "UMLS:C0024788", "MESH:D008379", "MEDDRA:10026822", "MEDDRA:10026823", "MEDDRA:10026825", "MEDDRA:10055306", "NCIT:C84883", "SNOMEDCT:77503002", "medgen:9888", "icd11.foundation:696598707", "ICD10:A98.3"], "information_content": 100.0}
{"id": "MONDO:0017872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lujo hemorrhagic fever", "equivalent_identifiers": ["MONDO:0017872", "DOID:0050202", "orphanet:319213", "UMLS:C4274433", "MESH:C000723471", "MEDDRA:10079325", "MEDDRA:10079329", "SNOMEDCT:716585008", "medgen:905662", "ICD10:A96.8"], "information_content": 100.0}
{"id": "MONDO:0002243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemorrhagic disease", "equivalent_identifiers": ["MONDO:0002243", "DOID:2213", "UMLS:C0019087", "UMLS:C1846821", "MESH:D006474", "MEDDRA:10019009", "MEDDRA:10055279", "MEDDRA:10062713", "MEDDRA:10062720", "NCIT:C115221", "NCIT:C195006", "medgen:6799", "ICD10:D69.9", "ICD9:287.9", "HP:0001928"], "information_content": 66.0}
{"id": "MONDO:0017878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chapare hemorrhagic fever", "equivalent_identifiers": ["MONDO:0017878", "DOID:0050198", "orphanet:319244", "UMLS:C4274434", "MESH:C000723468", "SNOMEDCT:716584007", "medgen:900792"], "information_content": 100.0}
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{"id": "MONDO:0001276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "expressive language disorder", "equivalent_identifiers": ["MONDO:0001276", "DOID:11385", "UMLS:C0236826", "UMLS:C0454638", "MEDDRA:10015715", "NCIT:C92562", "SNOMEDCT:229733002", "SNOMEDCT:268734000", "medgen:452300", "ICD10:F80.1", "ICD9:315.31"], "information_content": 95.4}
{"id": "MONDO:0009072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dandy-Walker syndrome", "equivalent_identifiers": ["MONDO:0009072", "DOID:2785", "OMIM:220200", "orphanet:217", "EFO:1000890", "UMLS:C0010964", "UMLS:C2931867", "MESH:C538507", "MESH:D003616", "MEDDRA:10048411", "NCIT:C75012", "SNOMEDCT:14447001", "medgen:4150", "icd11.foundation:993088960", "ICD10:Q03.1", "HP:0001305"], "information_content": 85.5}
{"id": "UniProtKB:Q9UGB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol oxygenase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGB7-1", "PR:Q9UGB7-1", "ENSEMBL:ENSP00000216075", "ENSEMBL:ENSP00000216075.6"], "information_content": 100.0}
{"id": "MONDO:0007771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperpigmentation with or without hypopigmentation, familial progressive", "equivalent_identifiers": ["MONDO:0007771", "DOID:0111373", "OMIM:145250", "UMLS:C1840392", "MESH:C564163", "medgen:333550"], "information_content": 95.4}
{"id": "NCBIGene:25807", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHBDD3", "equivalent_identifiers": ["NCBIGene:25807", "ENSEMBL:ENSG00000100263", "HGNC:1308", "UMLS:C1826824", "UniProtKB:Q9Y3P4", "PR:Q9Y3P4", "ENSEMBL:ENSP00000216085", "ENSEMBL:ENSP00000216085.7", "UMLS:C1565447", "MESH:C496066"], "information_content": 100.0}
{"id": "MONDO:0004569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachial plexus neuropathy from injury", "equivalent_identifiers": ["MONDO:0004569", "DOID:8443", "UMLS:C0006091", "MEDDRA:10006075", "medgen:507501", "ICD9:353.0"], "information_content": 95.4}
{"id": "NCBIGene:140564", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOBEC3D", "equivalent_identifiers": ["NCBIGene:140564", "ENSEMBL:ENSG00000243811", "HGNC:17354", "OMIM:609900", "UMLS:C1424927", "UniProtKB:B2CML4", "UMLS:C3658041", "MESH:C578087", "UniProtKB:Q6ICH2", "ENSEMBL:ENSP00000388017", "ENSEMBL:ENSP00000388017.2", "UniProtKB:Q96AK3", "PR:Q96AK3", "ENSEMBL:ENSP00000216099", "ENSEMBL:ENSP00000216099.7"], "information_content": 100.0}
{"id": "UniProtKB:Q92737-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-like protein family member 10A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92737-1", "PR:Q92737-1", "ENSEMBL:ENSP00000216101", "ENSEMBL:ENSP00000216101.6"], "information_content": 100.0}
{"id": "MONDO:0012855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 8", "equivalent_identifiers": ["MONDO:0012855", "DOID:0111003", "OMIM:612291", "UMLS:C2676771", "MESH:C567358", "medgen:436772"], "information_content": 100.0}
{"id": "MONDO:0014447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 19", "equivalent_identifiers": ["MONDO:0014447", "DOID:0110141", "OMIM:615996", "UMLS:C3889475", "medgen:855173"], "information_content": 100.0}
{"id": "NCBIGene:638", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BIK", "equivalent_identifiers": ["NCBIGene:638", "ENSEMBL:ENSG00000100290", "HGNC:1051", "OMIM:603392", "UMLS:C1332411", "UniProtKB:Q13323", "PR:Q13323", "ENSEMBL:ENSP00000216115", "ENSEMBL:ENSP00000216115.2", "UMLS:C0384003", "UMLS:C1332394", "MESH:C096820"], "information_content": 100.0}
{"id": "NCBIGene:3162", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMOX1", "equivalent_identifiers": ["NCBIGene:3162", "ENSEMBL:ENSG00000100292", "HGNC:5013", "OMIM:141250", "UMLS:C1415619", "UniProtKB:P09601", "PR:P09601", "ENSEMBL:ENSP00000216117", "ENSEMBL:ENSP00000216117.8", "UMLS:C1565861", "MESH:C496541", "UniProtKB:Q6FH11"], "information_content": 95.4}
{"id": "MONDO:0002279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iron metabolism disease", "equivalent_identifiers": ["MONDO:0002279", "DOID:2351", "UMLS:C0012715", "MESH:D019189", "MEDDRA:10022983", "SNOMEDCT:30913008", "medgen:8438", "ICD9:275.0"], "information_content": 75.7}
{"id": "MONDO:0021095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Parkinsonism", "equivalent_identifiers": ["MONDO:0021095", "DOID:0080855", "UMLS:C0242422", "MESH:D020734", "MEDDRA:10034010", "MEDDRA:10073684", "NCIT:C116922", "SNOMEDCT:32798002", "medgen:66079", "HP:0001300"], "information_content": 73.0}
{"id": "MONDO:0018477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kernicterus", "equivalent_identifiers": ["MONDO:0018477", "DOID:2382", "orphanet:415286", "EFO:1001002", "UMLS:C0022610", "MESH:D007647", "MEDDRA:10023140", "MEDDRA:10023376", "MEDDRA:10029814", "MEDDRA:10058102", "NCIT:C84799", "SNOMEDCT:50143004", "SNOMEDCT:74925009", "medgen:44018", "ICD10:P57", "HP:0001343"], "information_content": 95.4}
{"id": "MONDO:0008541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatic cord torsion", "equivalent_identifiers": ["MONDO:0008541", "DOID:11996", "OMIM:187400", "UMLS:C0037856", "MESH:D013086", "MEDDRA:10043356", "MEDDRA:10043363", "MEDDRA:10044071", "MEDDRA:10044073", "MEDDRA:10076655", "NCIT:C26885", "SNOMEDCT:49198006", "SNOMEDCT:81996005", "medgen:52446", "ICD10:N44.02", "ICD9:608.2", "HP:0100813"], "information_content": 100.0}
{"id": "NCBIGene:4174", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MCM5", "equivalent_identifiers": ["NCBIGene:4174", "ENSEMBL:ENSG00000100297", "HGNC:6948", "OMIM:602696", "UMLS:C1334492", "UniProtKB:B1AHB0", "UniProtKB:P33992", "PR:P33992", "ENSEMBL:ENSP00000216122", "ENSEMBL:ENSP00000216122.3", "UMLS:C0296863", "MESH:C489423"], "information_content": 84.8}
{"id": "MONDO:0009131", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Riley-Day syndrome", "equivalent_identifiers": ["MONDO:0009131", "DOID:11589", "OMIM:223900", "orphanet:1764", "UMLS:C0013364", "MESH:D004402", "MEDDRA:10016204", "MEDDRA:10039179", "NCIT:C84706", "SNOMEDCT:29159009", "medgen:41678", "icd11.foundation:831377479", "ICD10:G90.1"], "information_content": 100.0}
{"id": "NCBIGene:410", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARSA", "equivalent_identifiers": ["NCBIGene:410", "ENSEMBL:ENSG00000100299", "HGNC:713", "OMIM:607574", "UMLS:C1412553", "UniProtKB:A0A0C4DFZ2", "ENSEMBL:ENSP00000216124", "ENSEMBL:ENSP00000216124.5", "ENSEMBL:ENSP00000348406", "ENSEMBL:ENSP00000348406.5", "ENSEMBL:ENSP00000378981", "ENSEMBL:ENSP00000378981.3", "ENSEMBL:ENSP00000378983", "ENSEMBL:ENSP00000378983.3", "UniProtKB:B4DVI5", "UniProtKB:P15289", "PR:P15289", "UMLS:C3853627"]}
{"id": "MONDO:0009499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Krabbe disease", "equivalent_identifiers": ["MONDO:0009499", "DOID:10587", "OMIM:245200", "orphanet:487", "UMLS:C0023521", "MESH:D007965", "MEDDRA:10017611", "MEDDRA:10023492", "NCIT:C61254", "SNOMEDCT:189979005", "SNOMEDCT:192782005", "medgen:44131", "icd11.foundation:796317173", "ICD10:E75.23"], "information_content": 89.4}
{"id": "MONDO:0010006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sandhoff disease", "equivalent_identifiers": ["MONDO:0010006", "DOID:3323", "OMIM:268800", "orphanet:796", "UMLS:C0036161", "MESH:D012497", "MEDDRA:10081314", "NCIT:C85052", "SNOMEDCT:23849003", "medgen:11313", "icd11.foundation:708581915", "ICD10:E75.01"], "information_content": 90.9}
{"id": "MONDO:0009218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Farber lipogranulomatosis", "equivalent_identifiers": ["MONDO:0009218", "DOID:0050464", "OMIM:228000", "orphanet:333", "UMLS:C0268255", "MESH:D055577", "MEDDRA:10083969", "NCIT:C84710", "SNOMEDCT:79935000", "medgen:78654"], "information_content": 100.0}
{"id": "MONDO:0010088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucosulfatidosis", "equivalent_identifiers": ["MONDO:0010088", "DOID:0050441", "OMIM:272200", "orphanet:585", "UMLS:C0268263", "UMLS:C1720864", "MESH:D052517", "NCIT:C84908", "SNOMEDCT:54898003", "medgen:75664", "icd11.foundation:848083807", "ICD10:E75.26"], "information_content": 100.0}
{"id": "MONDO:0014235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 22q13 duplication syndrome", "equivalent_identifiers": ["MONDO:0014235", "DOID:0060437", "OMIM:615538", "UMLS:C3809844", "medgen:816174"], "information_content": 100.0}
{"id": "MONDO:0011652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Phelan-McDermid syndrome", "equivalent_identifiers": ["MONDO:0011652", "DOID:0080354", "OMIM:606232", "orphanet:48652", "UMLS:C1853490", "MESH:C536801", "MEDDRA:10082417", "NCIT:C157124", "SNOMEDCT:699310000", "medgen:339994"], "information_content": 92.8}
{"id": "NCBIGene:23551", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RASD2", "equivalent_identifiers": ["NCBIGene:23551", "ENSEMBL:ENSG00000100302", "HGNC:18229", "OMIM:612842", "UMLS:C1425383", "UniProtKB:Q96D21", "PR:Q96D21", "ENSEMBL:ENSP00000216127", "ENSEMBL:ENSP00000216127.4", "UMLS:C1432941", "MESH:C486702"], "information_content": 95.4}
{"id": "NCBIGene:23170", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTLL12", "equivalent_identifiers": ["NCBIGene:23170", "ENSEMBL:ENSG00000100304", "HGNC:28974", "OMIM:619410", "UMLS:C1823546", "UniProtKB:Q14166", "PR:Q14166", "ENSEMBL:ENSP00000216129", "ENSEMBL:ENSP00000216129.6", "UMLS:C2974508", "MESH:C553200"], "information_content": 95.4}
{"id": "MONDO:0010745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "beta-thalassemia-X-linked thrombocytopenia syndrome", "equivalent_identifiers": ["MONDO:0010745", "DOID:0111767", "OMIM:314050", "orphanet:231393", "UMLS:C1839161", "MESH:C564050", "NCIT:C134941", "SNOMEDCT:718196002", "medgen:326415", "icd11.foundation:905057212"], "information_content": 100.0}
{"id": "MONDO:0001817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute closed-angle glaucoma", "equivalent_identifiers": ["MONDO:0001817", "DOID:13862", "UMLS:C0154946", "MEDDRA:10000673", "MEDDRA:10000674", "MEDDRA:10002501", "SNOMEDCT:30041005", "medgen:509735", "ICD10:H40.21", "ICD9:365.22"], "information_content": 100.0}
{"id": "MONDO:0100153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tubulinopathy", "equivalent_identifiers": ["MONDO:0100153", "DOID:0112227", "EFO:0020030", "medgen:CN850169"], "information_content": 88.2}
{"id": "NCBIGene:23492", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CBX7", "equivalent_identifiers": ["NCBIGene:23492", "ENSEMBL:ENSG00000100307", "HGNC:1557", "OMIM:608457", "UMLS:C1413162", "UniProtKB:B0QYP2", "ENSEMBL:ENSP00000384035", "ENSEMBL:ENSP00000384035.3", "UMLS:C1609811", "MESH:C503627", "UniProtKB:O95931", "PR:O95931", "ENSEMBL:ENSP00000216133", "ENSEMBL:ENSP00000216133.5", "UniProtKB:Q4PNR6"], "information_content": 100.0}
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{"id": "MONDO:0015942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontometaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0015942", "DOID:0111785", "OMIM.PS:305620", "orphanet:1826", "UMLS:C0265293", "MESH:C538064", "SNOMEDCT:62803002", "medgen:82703", "icd11.foundation:1767187670"], "information_content": 92.8}
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{"id": "MONDO:0015611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutral lipid storage disease", "equivalent_identifiers": ["MONDO:0015611", "DOID:0050729", "orphanet:165", "UMLS:C5848057", "medgen:1853293", "icd11.foundation:621440298"], "information_content": 90.9}
{"id": "MONDO:0010017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sea-blue histiocyte syndrome", "equivalent_identifiers": ["MONDO:0010017", "DOID:4423", "OMIM:269600", "orphanet:158029", "UMLS:C0036489", "MESH:D012618", "NCIT:C85062", "SNOMEDCT:37821003", "medgen:19908", "HP:0001982"], "information_content": 100.0}
{"id": "MONDO:0800449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lysosomal acid lipase deficiency", "equivalent_identifiers": ["MONDO:0800449", "DOID:0080217", "OMIM.PS:278000", "orphanet:275761", "EFO:0700022", "UMLS:C5574740", "MESH:C531854", "MEDDRA:10077267", "SNOMEDCT:715923003", "medgen:1807768", "icd11.foundation:381622932", "ICD10:E75.5"], "information_content": 92.8}
{"id": "UniProtKB:Q9NST1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NST1-1", "PR:Q9NST1-1", "ENSEMBL:ENSP00000216180", "ENSEMBL:ENSP00000216180.3"], "information_content": 100.0}
{"id": "MONDO:0013209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metabolic dysfunction-associated steatotic liver disease", "equivalent_identifiers": ["MONDO:0013209", "DOID:0080208", "EFO:0003095", "EFO:1001248", "UMLS:C0400966", "MESH:D065626", "MEDDRA:10029530", "MEDDRA:10082249", "NCIT:C84444", "SNOMEDCT:1231824009", "SNOMEDCT:197315008", "medgen:96033"], "information_content": 90.9}
{"id": "MONDO:0007256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver carcinoma", "equivalent_identifiers": ["MONDO:0007256", "DOID:684", "DOID:686", "OMIM:114550", "orphanet:88673", "EFO:0000182", "UMLS:C1862761", "UMLS:C1867955", "UMLS:C2239176", "UMLS:C2676033", "MESH:C567299", "MESH:D006528", "MEDDRA:10007416", "MEDDRA:10019838", "MEDDRA:10024658", "MEDDRA:10048491", "MEDDRA:10049010", "MEDDRA:10073071", "NCIT:C3099", "SNOMEDCT:109841003", "SNOMEDCT:1186630006", "SNOMEDCT:187769009", "SNOMEDCT:25370001", "medgen:389187", "icd11.foundation:1294035808", "HP:0001402"], "information_content": 65.4}
{"id": "MONDO:0957896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metabolic dysfunction and alcohol associated liver disease", "equivalent_identifiers": ["MONDO:0957896", "DOID:0070508"], "information_content": 100.0}
{"id": "MONDO:0007147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obstructive sleep apnea syndrome", "equivalent_identifiers": ["MONDO:0007147", "DOID:0050848", "OMIM:107650", "EFO:0003918", "UMLS:C0520679", "MESH:D020181", "MEDDRA:10029983", "MEDDRA:10055577", "MEDDRA:10085837", "MEDDRA:10085844", "MEDDRA:10090132", "MEDDRA:10090133", "NCIT:C116337", "NCIT:C27168", "SNOMEDCT:78275009", "medgen:101045", "ICD10:G47.33", "ICD9:327.23", "HP:0002870"], "information_content": 95.4}
{"id": "UniProtKB:P35579-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin-9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35579-1", "PR:P35579-1", "ENSEMBL:ENSP00000216181", "ENSEMBL:ENSP00000216181.6"], "information_content": 100.0}
{"id": "MONDO:0015912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss", "equivalent_identifiers": ["MONDO:0015912", "DOID:0060651", "OMIM:155100", "orphanet:182050", "EFO:0009646", "UMLS:C0340978", "UMLS:C0398641", "UMLS:C0403445", "UMLS:C1834478", "UMLS:C1842035", "UMLS:C5200934", "MESH:C535507", "MESH:C537831", "MESH:C564237", "MEDDRA:10065451", "MEDDRA:10079437", "NCIT:C131639", "NCIT:C131642", "NCIT:C131646", "NCIT:C158788", "SNOMEDCT:234484005", "SNOMEDCT:234485006", "SNOMEDCT:236422008", "SNOMEDCT:712922002", "medgen:1704278", "ICD10:D69.4"], "information_content": 89.4}
{"id": "MONDO:0004187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nodular fasciitis", "equivalent_identifiers": ["MONDO:0004187", "DOID:7327", "orphanet:477742", "UMLS:C0410005", "MEDDRA:10065988", "NCIT:C3827", "SNOMEDCT:400138001", "SNOMEDCT:703616008", "medgen:96076", "icd11.foundation:789101380", "ICD10:M72.4"], "information_content": 84.2}
{"id": "MONDO:0031332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thrombasthenia", "equivalent_identifiers": ["MONDO:0031332", "DOID:2219", "OMIM:273800", "MESH:D013915", "NCIT:C61249", "SNOMEDCT:32942005"], "information_content": 100.0}
{"id": "MONDO:0957317", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hematuria, benign familial", "equivalent_identifiers": ["MONDO:0957317", "DOID:0111365", "OMIM.PS:141200", "UMLS:C0241908", "MESH:C562476", "MEDDRA:10060876", "MEDDRA:10060885", "SNOMEDCT:236418003", "medgen:66039"], "information_content": 92.8}
{"id": "MONDO:0004831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proliferative fasciitis", "equivalent_identifiers": ["MONDO:0004831", "DOID:9599", "UMLS:C0432528", "NCIT:C4728", "SNOMEDCT:1295239009", "SNOMEDCT:254737002", "medgen:98496"], "information_content": 100.0}
{"id": "MONDO:0008332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type von Willebrand disease", "equivalent_identifiers": ["MONDO:0008332", "DOID:0111056", "OMIM:177820", "orphanet:52530", "UMLS:C1280798", "MESH:C536458", "NCIT:C131681", "SNOMEDCT:128115005", "medgen:226914"], "information_content": 100.0}
{"id": "MONDO:0007029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branchio-oto-renal syndrome", "equivalent_identifiers": ["MONDO:0007029", "DOID:14702", "OMIM.PS:113650", "orphanet:107", "UMLS:C0265234", "MESH:D019280", "MEDDRA:10071135", "MEDDRA:10071142", "NCIT:C98983", "SNOMEDCT:290006", "medgen:82693", "icd11.foundation:504227287"], "information_content": 92.8}
{"id": "NCBIGene:25828", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TXN2", "equivalent_identifiers": ["NCBIGene:25828", "ENSEMBL:ENSG00000100348", "HGNC:17772", "OMIM:609063", "UMLS:C1456398", "UniProtKB:Q99757", "PR:Q99757", "ENSEMBL:ENSP00000216185", "ENSEMBL:ENSP00000216185.2", "ENSEMBL:ENSP00000385393", "ENSEMBL:ENSP00000385393.1", "UMLS:C1144346", "MESH:C467002"], "information_content": 92.8}
{"id": "UniProtKB:O15371-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 3 subunit D isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15371-1", "PR:O15371-1", "ENSEMBL:ENSP00000216190", "ENSEMBL:ENSP00000216190.8", "ENSEMBL:ENSP00000385812", "ENSEMBL:ENSP00000385812.1"], "information_content": 100.0}
{"id": "NCBIGene:5816", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PVALB", "equivalent_identifiers": ["NCBIGene:5816", "ENSEMBL:ENSG00000100362", "HGNC:9704", "OMIM:168890", "UMLS:C1419140", "UniProtKB:P20472", "PR:P20472", "ENSEMBL:ENSP00000216200", "ENSEMBL:ENSP00000216200.5", "ENSEMBL:ENSP00000400247", "ENSEMBL:ENSP00000400247.2", "ENSEMBL:ENSP00000480913", "ENSEMBL:ENSP00000480913.1", "ENSEMBL:ENSP00000486144", "ENSEMBL:ENSP00000486144.1", "UMLS:C5391693", "MESH:C000706973"], "information_content": 87.2}
{"id": "MONDO:0700226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "food allergy", "equivalent_identifiers": ["MONDO:0700226", "DOID:3044", "EFO:1001890", "UMLS:C0016470", "UMLS:C4554344", "MESH:D005512", "MEDDRA:10016946", "NCIT:C172304", "SNOMEDCT:414285001", "medgen:1635115", "HP:0500093"], "information_content": 84.2}
{"id": "MONDO:0004686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lattice corneal dystrophy", "equivalent_identifiers": ["MONDO:0004686", "DOID:8943", "UMLS:C0155127", "MESH:C537935", "MEDDRA:10024039", "SNOMEDCT:1192004", "SNOMEDCT:361199007", "medgen:56355", "icd11.foundation:1247885635", "HP:0001149"], "information_content": 90.9}
{"id": "MONDO:0000087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polymicrogyria", "equivalent_identifiers": ["MONDO:0000087", "DOID:0080918", "orphanet:35981", "UMLS:C0266464", "UMLS:C2362742", "MESH:D065706", "MEDDRA:10073489", "NCIT:C116936", "NCIT:C98988", "SNOMEDCT:4945003", "medgen:78605", "icd11.foundation:2081858551", "HP:0002126"], "information_content": 81.3}
{"id": "MONDO:0010354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Allan-Herndon-Dudley syndrome", "equivalent_identifiers": ["MONDO:0010354", "DOID:0050631", "OMIM:300523", "orphanet:59", "UMLS:C0795889", "MESH:C537047", "MEDDRA:10078821", "NCIT:C118843", "SNOMEDCT:702327009", "medgen:208645", "icd11.foundation:56813604"], "information_content": 100.0}
{"id": "MONDO:0001162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Disinhibition", "equivalent_identifiers": ["MONDO:0001162", "DOID:10937", "UMLS:C0021122", "UMLS:C0349280", "UMLS:C0424296", "MESH:D007174", "MEDDRA:10013142", "MEDDRA:10021561", "MEDDRA:10021562", "MEDDRA:10021564", "MEDDRA:10041246", "MEDDRA:10061215", "NCIT:C117253", "NCIT:C34723", "SNOMEDCT:247977003", "SNOMEDCT:66347000", "medgen:5769", "ICD10:F63.9", "ICD9:312.30", "HP:0000734"], "information_content": 76.0}
{"id": "MONDO:0001265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizophreniform disorder", "equivalent_identifiers": ["MONDO:0001265", "DOID:11328", "UMLS:C0036358", "MEDDRA:10039647", "MEDDRA:10039648", "NCIT:C94376", "SNOMEDCT:88975006", "medgen:11336", "ICD10:F20.81", "ICD9:295.4"], "information_content": 100.0}
{"id": "MONDO:0010198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wernicke-Korsakoff syndrome", "equivalent_identifiers": ["MONDO:0010198", "DOID:10915", "OMIM:277730", "EFO:1001242", "UMLS:C0349464", "UMLS:C1622892", "UMLS:C2931917", "UMLS:C2931918", "MESH:C538669", "MESH:D020915", "MEDDRA:10023485", "MEDDRA:10047913", "MEDDRA:10070997", "MEDDRA:10070998", "MEDDRA:10085656", "NCIT:C35764", "NCIT:C84803", "SNOMEDCT:192811002", "SNOMEDCT:69482004", "medgen:83883", "icd11.foundation:2017611840"], "information_content": 95.4}
{"id": "MONDO:0004750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "language disorder", "equivalent_identifiers": ["MONDO:0004750", "DOID:93", "UMLS:C0023015", "MESH:D007806", "MEDDRA:10074869", "NCIT:C97155", "SNOMEDCT:62305002", "medgen:44069", "HP:0002463"], "information_content": 80.2}
{"id": "MONDO:0007376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fleck corneal dystrophy", "equivalent_identifiers": ["MONDO:0007376", "DOID:0060448", "OMIM:121850", "orphanet:98970", "UMLS:C1562113", "MESH:C563256", "SNOMEDCT:417183007", "medgen:287065", "icd11.foundation:607143324"], "information_content": 100.0}
{"id": "DOID:0060497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pollen allergy", "equivalent_identifiers": ["DOID:0060497"]}
{"id": "MONDO:0015742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periventricular leukomalacia", "equivalent_identifiers": ["MONDO:0015742", "DOID:13088", "EFO:1001101", "UMLS:C0023529", "MESH:D007969", "MEDDRA:10052594", "NCIT:C99013", "SNOMEDCT:230769007", "medgen:6072", "ICD10:P91.2", "ICD9:779.7", "HP:0006970"], "information_content": 95.4}
{"id": "UniProtKB:O75631-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uroplakin-3a isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75631-1", "PR:O75631-1", "ENSEMBL:ENSP00000216211", "ENSEMBL:ENSP00000216211.4"], "information_content": 100.0}
{"id": "MONDO:0002370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian Brenner tumor", "equivalent_identifiers": ["MONDO:0002370", "DOID:2636", "UMLS:C5234884", "MEDDRA:10073271", "NCIT:C3872", "SNOMEDCT:254859006", "medgen:1716777"], "information_content": 88.2}
{"id": "MONDO:0007352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal coloboma syndrome", "equivalent_identifiers": ["MONDO:0007352", "DOID:0090006", "OMIM:120330", "orphanet:1475", "UMLS:C1852759", "MESH:C537168", "MEDDRA:10090293", "NCIT:C123230", "SNOMEDCT:446449009", "medgen:339002", "ICD10:Q60.4"], "information_content": 100.0}
{"id": "MONDO:0002127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urethral stricture", "equivalent_identifiers": ["MONDO:0002127", "DOID:1829", "UMLS:C0029752", "UMLS:C0041974", "UMLS:C4551691", "MESH:D014525", "MEDDRA:10046466", "MEDDRA:10046474", "MEDDRA:10065584", "NCIT:C79821", "SNOMEDCT:236647003", "SNOMEDCT:76618002", "medgen:1641821", "icd11.foundation:611219038", "ICD9:598.8", "HP:0008661"], "information_content": 87.2}
{"id": "MONDO:0007197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bladder diverticulum", "equivalent_identifiers": ["MONDO:0007197", "DOID:11353", "OMIM:109820", "UMLS:C0156273", "MESH:C562406", "MEDDRA:10005038", "MEDDRA:10013565", "NCIT:C160155", "SNOMEDCT:197866008", "medgen:57625", "ICD10:N32.3", "ICD9:596.3", "HP:0000015"], "information_content": 92.8}
{"id": "MONDO:0008642", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "VACTERL/vater association", "equivalent_identifiers": ["MONDO:0008642", "DOID:14679", "OMIM:192350", "orphanet:887", "UMLS:C0220708", "UMLS:C4225671", "MESH:C536495", "MESH:C536534", "MEDDRA:10053665", "MEDDRA:10066022", "NCIT:C99105", "SNOMEDCT:27742002", "SNOMEDCT:431395004", "medgen:902479", "icd11.foundation:1452617987"], "information_content": 92.8}
{"id": "NCBIGene:6767", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ST13", "equivalent_identifiers": ["NCBIGene:6767", "ENSEMBL:ENSG00000100380", "HGNC:11343", "OMIM:606796", "UMLS:C1337104", "UniProtKB:A0A140VKA6", "UniProtKB:B4E0U6", "UniProtKB:P50502", "PR:P50502", "ENSEMBL:ENSP00000216218", "ENSEMBL:ENSP00000216218.3", "UMLS:C0529134", "MESH:C101119", "UniProtKB:Q0IJ56"], "information_content": 95.4}
{"id": "MONDO:0008935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar ataxia-hypogonadism syndrome", "equivalent_identifiers": ["MONDO:0008935", "DOID:0111587", "OMIM:212840", "orphanet:1173", "UMLS:C1859305", "MESH:C565870", "SNOMEDCT:230240004", "medgen:349137"], "information_content": 95.4}
{"id": "NCBIGene:3560", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL2RB", "equivalent_identifiers": ["NCBIGene:3560", "ENSEMBL:ENSG00000100385", "HGNC:6009", "OMIM:146710", "UMLS:C1334115", "UniProtKB:P14784", "PR:P14784", "ENSEMBL:ENSP00000216223", "ENSEMBL:ENSP00000216223.5", "ENSEMBL:ENSP00000401020", "ENSEMBL:ENSP00000401020.2", "ENSEMBL:ENSP00000402685", "ENSEMBL:ENSP00000402685.2", "ENSEMBL:ENSP00000403731", "ENSEMBL:ENSP00000403731.2", "ENSEMBL:ENSP00000514005", "ENSEMBL:ENSP00000514005.1", "ENSEMBL:ENSP00000514009", "ENSEMBL:ENSP00000514009.1", "ENSEMBL:ENSP00000514011", "ENSEMBL:ENSP00000514011.1", "ENSEMBL:ENSP00000514012", "ENSEMBL:ENSP00000514012.1", "UMLS:C1259013", "MESH:C508020"], "information_content": 90.9}
{"id": "NCBIGene:9978", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBX1", "equivalent_identifiers": ["NCBIGene:9978", "ENSEMBL:ENSG00000100387", "HGNC:9928", "OMIM:603814", "UMLS:C1335605", "UniProtKB:P62877", "PR:P62877", "ENSEMBL:ENSP00000216225", "ENSEMBL:ENSP00000216225.8", "UMLS:C1313794", "MESH:C479529"], "information_content": 88.2}
{"id": "MONDO:0007477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-M syndrome", "equivalent_identifiers": ["MONDO:0007477", "DOID:0060241", "OMIM.PS:273750", "orphanet:2616", "UMLS:C1848862", "MESH:C535314", "MEDDRA:10081775", "SNOMEDCT:702342007", "medgen:336440"], "information_content": 90.9}
{"id": "UniProtKB:Q969R5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lethal(3)malignant brain tumor-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969R5-1", "PR:Q969R5-1", "ENSEMBL:ENSP00000216237", "ENSEMBL:ENSP00000216237.5"], "information_content": 100.0}
{"id": "MONDO:0850333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IDH-wildtype anaplastic astrocytoma", "equivalent_identifiers": ["MONDO:0850333", "DOID:0080876", "UMLS:C4289980", "NCIT:C129291"], "information_content": 95.4}
{"id": "UniProtKB:Q6NUI6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chondroadherin-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NUI6-1", "PR:Q6NUI6-1", "ENSEMBL:ENSP00000216241", "ENSEMBL:ENSP00000216241.9"], "information_content": 100.0}
{"id": "MONDO:0013514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 3", "equivalent_identifiers": ["MONDO:0013514", "DOID:0110700", "OMIM:613981", "UMLS:C3151432", "medgen:462782"], "information_content": 100.0}
{"id": "NCBIGene:84844", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHF5A", "equivalent_identifiers": ["NCBIGene:84844", "ENSEMBL:ENSG00000100410", "HGNC:18000", "OMIM:617846", "UMLS:C1425228", "UniProtKB:Q7RTV0", "PR:Q7RTV0", "ENSEMBL:ENSP00000216252", "ENSEMBL:ENSP00000216252.3", "UMLS:C1434264", "MESH:C486761"], "information_content": 88.2}
{"id": "MONDO:0007943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nager syndrome", "equivalent_identifiers": ["MONDO:0007943", "DOID:5768", "OMIM:154400", "orphanet:245", "UMLS:C0265245", "MESH:C538184", "MEDDRA:10084410", "SNOMEDCT:35520007", "medgen:120519"], "information_content": 100.0}
{"id": "NCBIGene:50", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACO2", "equivalent_identifiers": ["NCBIGene:50", "ENSEMBL:ENSG00000100412", "HGNC:118", "OMIM:100850", "UMLS:C1412127", "UniProtKB:Q99798", "PR:Q99798", "ENSEMBL:ENSP00000216254", "ENSEMBL:ENSP00000216254.4", "UMLS:C1260070", "MESH:C476079"], "information_content": 88.2}
{"id": "MONDO:0011730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fumaric aciduria", "equivalent_identifiers": ["MONDO:0011730", "DOID:0111261", "OMIM:606812", "orphanet:24", "UMLS:C0342770", "UMLS:C2936826", "MESH:C538191", "MEDDRA:10088204", "SNOMEDCT:237983002", "medgen:87458"], "information_content": 100.0}
{"id": "MONDO:0008858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Behr syndrome", "equivalent_identifiers": ["MONDO:0008858", "DOID:0111580", "OMIM:210000", "orphanet:1239", "UMLS:C0221061", "MESH:C537669", "NCIT:C177251", "SNOMEDCT:718221007", "medgen:66358"], "information_content": 100.0}
{"id": "MONDO:0010879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CODAS syndrome", "equivalent_identifiers": ["MONDO:0010879", "DOID:0111274", "OMIM:600373", "orphanet:1458", "UMLS:C1838180", "MESH:C536434", "NCIT:C126744", "SNOMEDCT:717772000", "medgen:333031"], "information_content": 100.0}
{"id": "MONDO:0020730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carpal tunnel syndrome 1", "equivalent_identifiers": ["MONDO:0020730", "DOID:0070466", "OMIM:115430", "UMLS:C5779776", "medgen:1830382"], "information_content": 100.0}
{"id": "NCBIGene:5372", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PMM1", "equivalent_identifiers": ["NCBIGene:5372", "ENSEMBL:ENSG00000100417", "HGNC:9114", "OMIM:601786", "UMLS:C1418673", "UniProtKB:Q92871", "PR:Q92871", "ENSEMBL:ENSP00000216259", "ENSEMBL:ENSP00000216259.7", "UMLS:C5196720", "MESH:C000629934"], "information_content": 89.4}
{"id": "UniProtKB:Q8TCT0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ceramide kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCT0-1", "PR:Q8TCT0-1", "ENSEMBL:ENSP00000216264", "ENSEMBL:ENSP00000216264.8"], "information_content": 100.0}
{"id": "NCBIGene:9889", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBED4", "equivalent_identifiers": ["NCBIGene:9889", "ENSEMBL:ENSG00000100426", "HGNC:20721", "OMIM:612552", "UMLS:C1427093", "UniProtKB:O75132", "PR:O75132", "ENSEMBL:ENSP00000216268", "ENSEMBL:ENSP00000216268.4", "ENSEMBL:ENSP00000520851", "ENSEMBL:ENSP00000520851.1", "UMLS:C2717631", "MESH:C542680"], "information_content": 92.8}
{"id": "MONDO:0010516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis", "equivalent_identifiers": ["MONDO:0010516", "DOID:0111859", "OMIM:300990", "orphanet:688581", "UMLS:C4310810", "medgen:934777"], "information_content": 100.0}
{"id": "MONDO:0013273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 16p13.3 duplication syndrome", "equivalent_identifiers": ["MONDO:0013273", "DOID:0060431", "OMIM:613458", "orphanet:96078", "UMLS:C3150708", "UMLS:C4518796", "SNOMEDCT:733473000", "medgen:462058"], "information_content": 100.0}
{"id": "MONDO:0021259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prostate neoplasm", "equivalent_identifiers": ["MONDO:0021259", "DOID:13206", "UMLS:C0033578", "UMLS:C0748012", "MEDDRA:10029002", "MEDDRA:10029096", "MEDDRA:10036927", "MEDDRA:10036965", "MEDDRA:10077903", "NCIT:C3343", "SNOMEDCT:126906006", "medgen:18697", "ICD10:N40", "ICD9:600.1", "HP:0100787"], "information_content": 62.1}
{"id": "UniProtKB:Q969S8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyamine deacetylase HDAC10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969S8-1", "PR:Q969S8-1", "ENSEMBL:ENSP00000216271", "ENSEMBL:ENSP00000216271.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y572-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-interacting serine/threonine-protein kinase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y572-1", "PR:Q9Y572-1", "ENSEMBL:ENSP00000216274", "ENSEMBL:ENSP00000216274.5", "ENSEMBL:ENSP00000495490", "ENSEMBL:ENSP00000495490.1"], "information_content": 100.0}
{"id": "UniProtKB:P51003-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly(A) polymerase alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51003-1", "PR:P51003-1", "ENSEMBL:ENSP00000216277", "ENSEMBL:ENSP00000216277.8"], "information_content": 100.0}
{"id": "UniProtKB:Q14112-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nidogen-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14112-1", "PR:Q14112-1", "ENSEMBL:ENSP00000216286", "ENSEMBL:ENSP00000216286.4"], "information_content": 100.0}
{"id": "MONDO:0001180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bullous keratopathy", "equivalent_identifiers": ["MONDO:0001180", "DOID:11031", "UMLS:C0155111", "MEDDRA:10006564", "NCIT:C26970", "SNOMEDCT:57207003", "medgen:57600", "icd11.foundation:1270454490", "ICD10:H18.1", "ICD9:371.23"], "information_content": 100.0}
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{"id": "NCBIGene:2287", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FKBP3", "equivalent_identifiers": ["NCBIGene:2287", "ENSEMBL:ENSG00000100442", "HGNC:3719", "OMIM:186947", "UMLS:C1414625", "UniProtKB:Q00688", "PR:Q00688", "ENSEMBL:ENSP00000216330", "ENSEMBL:ENSP00000216330.3", "ENSEMBL:ENSP00000379374", "ENSEMBL:ENSP00000379374.3", "UMLS:C1448706", "MESH:C074856"], "information_content": 95.4}
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{"id": "UniProtKB:P20718-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "granzyme H isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P20718-1", "PR:P20718-1", "ENSEMBL:ENSP00000216338", "ENSEMBL:ENSP00000216338.4"], "information_content": 100.0}
{"id": "MONDO:0010020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital generalized lipodystrophy type 2", "equivalent_identifiers": ["MONDO:0010020", "DOID:0111136", "OMIM:269700", "UMLS:C1720863", "medgen:318593"], "information_content": 100.0}
{"id": "NCBIGene:3002", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GZMB", "equivalent_identifiers": ["NCBIGene:3002", "ENSEMBL:ENSG00000100453", "HGNC:4709", "OMIM:123910", "UMLS:C1415380", "UniProtKB:J3KQ52", "ENSEMBL:ENSP00000387385", "ENSEMBL:ENSP00000387385.3", "UniProtKB:P10144", "PR:P10144", "ENSEMBL:ENSP00000216341", "ENSEMBL:ENSP00000216341.4", "UMLS:C1567160", "MESH:C509213", "UniProtKB:Q67BC3", "UniProtKB:Q6XGZ4"], "information_content": 87.2}
{"id": "MONDO:0006536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital generalized lipodystrophy", "equivalent_identifiers": ["MONDO:0006536", "DOID:0050585", "OMIM.PS:608594", "EFO:1000681", "UMLS:C0221032", "MESH:D052497", "MEDDRA:10010533", "MEDDRA:10044095", "MEDDRA:10049286", "MEDDRA:10053432", "MEDDRA:10053547", "MEDDRA:10053860", "MEDDRA:10073666", "MEDDRA:10073668", "SNOMEDCT:284449005", "medgen:67438", "HP:0009059"], "information_content": 88.2}
{"id": "NCBIGene:1690", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COCH", "equivalent_identifiers": ["NCBIGene:1690", "ENSEMBL:ENSG00000100473", "HGNC:2180", "OMIM:603196", "UMLS:C1413565", "UniProtKB:A0A2U3TZE7", "ENSEMBL:ENSP00000216361", "ENSEMBL:ENSP00000216361.5", "UMLS:C0671466", "MESH:C110668", "UniProtKB:O43405", "PR:O43405"]}
{"id": "MONDO:0004456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cocaine abuse", "equivalent_identifiers": ["MONDO:0004456", "DOID:809", "UMLS:C0009171", "UMLS:C0236736", "MESH:D019970", "MEDDRA:10009810", "MEDDRA:10009814", "SNOMEDCT:46975003", "SNOMEDCT:78267003", "medgen:3136", "ICD10:F14.1", "ICD9:305.6"], "information_content": 100.0}
{"id": "MONDO:0023069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enlarged vestibular aqueduct syndrome", "equivalent_identifiers": ["MONDO:0023069", "DOID:0050332", "UMLS:C1863752", "medgen:355050", "HP:0011387"], "information_content": 95.4}
{"id": "MONDO:0015453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cogan syndrome", "equivalent_identifiers": ["MONDO:0015453", "DOID:0060216", "orphanet:1467", "UMLS:C0271270", "MESH:D055952", "MEDDRA:10056667", "SNOMEDCT:405810005", "medgen:82871", "icd11.foundation:2098089327", "ICD10:H16.32"], "information_content": 100.0}
{"id": "MONDO:0005349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otosclerosis", "equivalent_identifiers": ["MONDO:0005349", "DOID:12185", "OMIM.PS:166800", "EFO:0004213", "UMLS:C0029696", "UMLS:C0029899", "MESH:D010040", "MEDDRA:10033103", "MEDDRA:10033107", "MEDDRA:10033108", "MEDDRA:10060807", "NCIT:C185242", "SNOMEDCT:11543004", "medgen:10508", "icd11.foundation:1242649410", "ICD10:H80.80", "ICD9:387.8", "HP:0000362"], "information_content": 83.6}
{"id": "MONDO:0002008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "labyrinthitis", "equivalent_identifiers": ["MONDO:0002008", "DOID:1468", "DOID:3930", "EFO:0009604", "UMLS:C0022893", "MESH:D007762", "MEDDRA:10021964", "MEDDRA:10023567", "MEDDRA:10023569", "MEDDRA:10023570", "MEDDRA:10059398", "MEDDRA:10066966", "NCIT:C128369", "SNOMEDCT:23919004", "medgen:5991", "icd11.foundation:901550793", "ICD10:H83.0", "ICD9:386.3"], "information_content": 87.2}
{"id": "MONDO:8000018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign paroxysmal positional vertigo", "equivalent_identifiers": ["MONDO:8000018", "DOID:13941", "OMIM:193007", "UMLS:C0155502", "MESH:D065635", "MEDDRA:10004436", "MEDDRA:10004445", "MEDDRA:10056455", "MEDDRA:10056456", "SNOMEDCT:111541001", "SNOMEDCT:232285008", "medgen:57837", "ICD9:386.11"], "information_content": 100.0}
{"id": "MONDO:0001569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acoustic neuroma", "equivalent_identifiers": ["MONDO:0001569", "DOID:12689", "orphanet:252175", "UMLS:C0027859", "MESH:D009464", "MEDDRA:10000522", "MEDDRA:10000523", "MEDDRA:10048925", "MEDDRA:10083886", "NCIT:C3276", "SNOMEDCT:126949007", "medgen:45062", "icd11.foundation:480288993", "HP:0009588"], "information_content": 92.8}
{"id": "MONDO:0002453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retrocochlear disease", "equivalent_identifiers": ["MONDO:0002453", "DOID:2889", "UMLS:C0035352", "MESH:D012181", "medgen:11216"], "information_content": 89.4}
{"id": "UniProtKB:A0A8C8KBR5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A8C8KBR5_HUMAN AP-4 complex subunit sigma-1 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A8C8KBR5", "ENSEMBL:ENSP00000216366", "ENSEMBL:ENSP00000216366.5"]}
{"id": "UniProtKB:P56282-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA polymerase epsilon subunit 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P56282-1", "PR:P56282-1", "ENSEMBL:ENSP00000216367", "ENSEMBL:ENSP00000216367.5"], "information_content": 100.0}
{"id": "MONDO:0015601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, van Esch type", "equivalent_identifiers": ["MONDO:0015601", "DOID:0111840", "OMIM:301030", "orphanet:163976", "UMLS:C4305072", "SNOMEDCT:718914002", "medgen:930741"], "information_content": 100.0}
{"id": "UniProtKB:Q07890-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "son of sevenless homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q07890-1", "PR:Q07890-1", "ENSEMBL:ENSP00000216373", "ENSEMBL:ENSP00000216373.5"], "information_content": 100.0}
{"id": "MONDO:0018997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome", "equivalent_identifiers": ["MONDO:0018997", "DOID:3490", "OMIM.PS:163950", "orphanet:648", "UMLS:C0028326", "MESH:D009634", "MEDDRA:10029748", "NCIT:C34854", "SNOMEDCT:205684007", "SNOMEDCT:205824006", "medgen:18073", "icd11.foundation:1044395354"], "information_content": 81.7}
{"id": "MONDO:0009026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Costello syndrome", "equivalent_identifiers": ["MONDO:0009026", "DOID:0050469", "OMIM:218040", "orphanet:3071", "UMLS:C0587248", "MESH:D056685", "MEDDRA:10067380", "NCIT:C84652", "SNOMEDCT:309776008", "medgen:108454", "icd11.foundation:1946512039"], "information_content": 92.8}
{"id": "MONDO:0015280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiofaciocutaneous syndrome", "equivalent_identifiers": ["MONDO:0015280", "DOID:0060233", "OMIM.PS:115150", "orphanet:1340", "UMLS:C1275081", "MESH:C535579", "MEDDRA:10082805", "MEDDRA:10082855", "NCIT:C84617", "SNOMEDCT:403770008", "medgen:266149"], "information_content": 89.4}
{"id": "MONDO:0012669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Legius syndrome", "equivalent_identifiers": ["MONDO:0012669", "DOID:0070484", "OMIM:611431", "orphanet:137605", "UMLS:C1969623", "MESH:C548032", "NCIT:C176941", "SNOMEDCT:703541007", "medgen:370709", "icd11.foundation:1025118245"], "information_content": 100.0}
{"id": "MONDO:0011899", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome-like disorder with loose anagen hair", "equivalent_identifiers": ["MONDO:0011899", "DOID:0080691", "OMIM.PS:607721", "orphanet:2701", "UMLS:C1843181", "UMLS:C3501846", "MESH:C564342", "NCIT:C178129", "SNOMEDCT:723444009", "medgen:334697"], "information_content": 92.8}
{"id": "MONDO:0031043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 12", "equivalent_identifiers": ["MONDO:0031043", "DOID:0081030", "OMIM:620014", "UMLS:C5774203", "medgen:1823976"], "information_content": 100.0}
{"id": "DOID:0111683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurofibromatosis-Noonan syndrome", "equivalent_identifiers": ["DOID:0111683", "OMIM:601321", "UMLS:C2931482", "MESH:C537393", "SNOMEDCT:715344006"]}
{"id": "UniProtKB:P06737-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycogen phosphorylase, liver form isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P06737-1", "PR:P06737-1", "ENSEMBL:ENSP00000216392", "ENSEMBL:ENSP00000216392.7"], "information_content": 100.0}
{"id": "NCBIGene:64841", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNPNAT1", "equivalent_identifiers": ["NCBIGene:64841", "ENSEMBL:ENSG00000100522", "HGNC:19980", "OMIM:616510", "UMLS:C1426580", "UniProtKB:Q96EK6", "PR:Q96EK6", "ENSEMBL:ENSP00000216410", "ENSEMBL:ENSP00000216410.3", "ENSEMBL:ENSP00000496934", "ENSEMBL:ENSP00000496934.1", "UMLS:C1530940", "MESH:C494970"], "information_content": 92.8}
{"id": "NCBIGene:10175", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNIH1", "equivalent_identifiers": ["NCBIGene:10175", "ENSEMBL:ENSG00000100528", "HGNC:19431", "OMIM:611287", "UMLS:C1426240", "UniProtKB:B2R4P1", "UMLS:C1431768", "MESH:C118276", "UniProtKB:O95406", "PR:O95406", "ENSEMBL:ENSP00000216416", "ENSEMBL:ENSP00000216416.4"], "information_content": 92.8}
{"id": "MONDO:0006668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bacterial conjunctivitis", "equivalent_identifiers": ["MONDO:0006668", "DOID:9700", "EFO:1000829", "UMLS:C0009768", "MESH:D003234", "MEDDRA:10037568", "MEDDRA:10051626", "MEDDRA:10061784", "NCIT:C53656", "SNOMEDCT:128350005", "SNOMEDCT:243321006", "SNOMEDCT:243462001", "medgen:3209", "icd11.foundation:902481358", "ICD10:H10.0"], "information_content": 88.2}
{"id": "NCBIGene:51382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP6V1D", "equivalent_identifiers": ["NCBIGene:51382", "ENSEMBL:ENSG00000100554", "HGNC:13527", "OMIM:609398", "UMLS:C1422038", "UniProtKB:Q9Y5K8", "PR:Q9Y5K8", "ENSEMBL:ENSP00000216442", "ENSEMBL:ENSP00000216442.7", "ENSEMBL:ENSP00000451167", "ENSEMBL:ENSP00000451167.1"], "information_content": 95.4}
{"id": "MONDO:0015804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infant botulism", "equivalent_identifiers": ["MONDO:0015804", "DOID:0050354", "orphanet:178478", "UMLS:C0238027", "NCIT:C128343", "SNOMEDCT:414488002", "medgen:68649"], "information_content": 100.0}
{"id": "NCBIGene:26499", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLEK2", "equivalent_identifiers": ["NCBIGene:26499", "ENSEMBL:ENSG00000100558", "HGNC:19238", "OMIM:608007", "UMLS:C1426105", "UniProtKB:Q9NYT0", "PR:Q9NYT0", "ENSEMBL:ENSP00000216446", "ENSEMBL:ENSP00000216446.4", "UMLS:C1438355", "MESH:C120651"], "information_content": 95.4}
{"id": "MONDO:0021005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "faciodigitogenital syndrome", "equivalent_identifiers": ["MONDO:0021005", "DOID:0111824", "orphanet:915"], "information_content": 90.9}
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{"id": "MONDO:0013110", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegenerative syndrome due to cerebral folate transport deficiency", "equivalent_identifiers": ["MONDO:0013110", "DOID:0050719", "OMIM:613068", "orphanet:217382", "UMLS:C2751584", "UMLS:C4022901", "MESH:C567791", "MEDDRA:10088217", "SNOMEDCT:711403001", "medgen:442763", "icd11.foundation:1158040363", "HP:0012446"], "information_content": 100.0}
{"id": "MONDO:0008740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Otocephaly", "equivalent_identifiers": ["MONDO:0008740", "DOID:0060341", "OMIM:202650", "orphanet:990", "UMLS:C0265242", "UMLS:C1876185", "MESH:C537996", "MESH:C562503", "MEDDRA:10058118", "NCIT:C124568", "SNOMEDCT:48180002", "medgen:78541", "ICD10:Q18.2"], "information_content": 100.0}
{"id": "UniProtKB:P25788-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome subunit alpha type-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P25788-1", "PR:P25788-1", "ENSEMBL:ENSP00000216455", "ENSEMBL:ENSP00000216455.4"], "information_content": 100.0}
{"id": "MONDO:0054700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteasome-associated autoinflammatory syndrome 2", "equivalent_identifiers": ["MONDO:0054700", "DOID:0060914", "OMIM:618048", "UMLS:C4747989", "medgen:1648482"], "information_content": 100.0}
{"id": "MONDO:0054699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteasome-associated autoinflammatory syndrome 3", "equivalent_identifiers": ["MONDO:0054699", "DOID:0060916", "OMIM:617591", "UMLS:C4747850", "UMLS:C4749149", "medgen:1648456"], "information_content": 100.0}
{"id": "MONDO:0030931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteasome-associated autoinflammatory syndrome 4", "equivalent_identifiers": ["MONDO:0030931", "DOID:0060915", "OMIM:619183", "UMLS:C5543053", "medgen:1780127"], "information_content": 100.0}
{"id": "MONDO:0006591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "panniculitis", "equivalent_identifiers": ["MONDO:0006591", "DOID:1526", "EFO:1000746", "UMLS:C0030326", "MESH:D015434", "MEDDRA:10033674", "MEDDRA:10033675", "MEDDRA:10033680", "MEDDRA:10033681", "NCIT:C112112", "NCIT:C33645", "SNOMEDCT:22125009", "medgen:45301", "icd11.foundation:1056888958", "ICD10:M79.3", "ICD9:729.30", "HP:0012490"], "information_content": 82.6}
{"id": "MONDO:0030924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteasome-associated autoinflammatory syndrome 5", "equivalent_identifiers": ["MONDO:0030924", "DOID:0060919", "OMIM:619175", "UMLS:C5543027", "medgen:1779962"], "information_content": 100.0}
{"id": "MONDO:0009105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichohepatoenteric syndrome", "equivalent_identifiers": ["MONDO:0009105", "DOID:0111414", "OMIM.PS:222470", "orphanet:84064", "UMLS:C1857276", "MESH:C565627", "SNOMEDCT:703406006", "medgen:347405", "icd11.foundation:1470910753"], "information_content": 92.8}
{"id": "MONDO:0011959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sweet syndrome", "equivalent_identifiers": ["MONDO:0011959", "DOID:0080746", "OMIM:608068", "orphanet:3243", "UMLS:C0085077", "MESH:D016463", "MEDDRA:10000748", "MEDDRA:10042673", "NCIT:C85177", "SNOMEDCT:84625002", "medgen:43097", "icd11.foundation:195212152"], "information_content": 100.0}
{"id": "UniProtKB:Q9P1V8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sterile alpha motif domain-containing protein 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P1V8-1", "PR:Q9P1V8-1", "ENSEMBL:ENSP00000216471", "ENSEMBL:ENSP00000216471.4"], "information_content": 100.0}
{"id": "MONDO:0015364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory and autonomic neuropathy", "equivalent_identifiers": ["MONDO:0015364", "DOID:0050548", "OMIM.PS:162400", "orphanet:140471", "UMLS:C0027889", "UMLS:C0699739", "MESH:D009477", "MEDDRA:10019901", "MEDDRA:10040037", "MEDDRA:10091083", "NCIT:C125386", "SNOMEDCT:11442006", "SNOMEDCT:128205005", "medgen:14355", "icd11.foundation:1091217288"], "information_content": 78.3}
{"id": "UniProtKB:O95433-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "activator of 90 kDa heat shock protein ATPase homolog 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95433-1", "PR:O95433-1", "ENSEMBL:ENSP00000216479", "ENSEMBL:ENSP00000216479.3"], "information_content": 100.0}
{"id": "NCBIGene:9517", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPTLC2", "equivalent_identifiers": ["NCBIGene:9517", "ENSEMBL:ENSG00000100596", "HGNC:11278", "OMIM:605713", "UMLS:C1420391", "UniProtKB:O15270", "PR:O15270", "ENSEMBL:ENSP00000216484", "ENSEMBL:ENSP00000216484.2", "UMLS:C1531046", "MESH:C495089"], "information_content": 86.3}
{"id": "MONDO:0000421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inborn serine deficiency", "equivalent_identifiers": ["MONDO:0000421", "DOID:0050721"], "information_content": 83.6}
{"id": "MONDO:0001576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "telangiectasis", "equivalent_identifiers": ["MONDO:0001576", "DOID:1272", "UMLS:C0039446", "UMLS:C1138421", "MESH:D013684", "MEDDRA:10043189", "MEDDRA:10043193", "MEDDRA:10062696", "MEDDRA:10068846", "NCIT:C28194", "SNOMEDCT:112641009", "SNOMEDCT:247479008", "medgen:21088", "HP:0001009"], "information_content": 76.4}
{"id": "UniProtKB:Q8TB24-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras and Rab interactor 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TB24-1", "PR:Q8TB24-1", "ENSEMBL:ENSP00000216487", "ENSEMBL:ENSP00000216487.7"], "information_content": 100.0}
{"id": "NCBIGene:8846", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALKBH1", "equivalent_identifiers": ["NCBIGene:8846", "ENSEMBL:ENSG00000100601", "HGNC:17911", "OMIM:605345", "UMLS:C1823174", "UniProtKB:Q13686", "PR:Q13686", "ENSEMBL:ENSP00000216489", "ENSEMBL:ENSP00000216489.3", "UMLS:C1313334", "MESH:C499236", "UniProtKB:Q5XKL0"], "information_content": 95.4}
{"id": "MONDO:0009124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dubowitz syndrome", "equivalent_identifiers": ["MONDO:0009124", "DOID:14796", "OMIM:223370", "orphanet:235", "UMLS:C0175691", "MESH:C535718", "MEDDRA:10059589", "NCIT:C125591", "SNOMEDCT:2593002", "medgen:59797", "icd11.foundation:758537040"], "information_content": 100.0}
{"id": "NCBIGene:1113", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHGA", "equivalent_identifiers": ["NCBIGene:1113", "ENSEMBL:ENSG00000100604", "HGNC:1929", "OMIM:118910", "UMLS:C1332754", "UniProtKB:G5E968", "ENSEMBL:ENSP00000334023", "ENSEMBL:ENSP00000334023.4", "ENSEMBL:ENSP00000486710", "ENSEMBL:ENSP00000486710.1", "UniProtKB:P10645", "PR:P10645", "ENSEMBL:ENSP00000216492", "ENSEMBL:ENSP00000216492.5", "ENSEMBL:ENSP00000478198", "ENSEMBL:ENSP00000478198.1", "UMLS:C1609756", "UMLS:C5700294", "MESH:C506150", "UniProtKB:Q86T07"], "information_content": 82.1}
{"id": "DOID:0060314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "persistent generalized lymphadenopathy", "equivalent_identifiers": ["DOID:0060314"]}
{"id": "MONDO:0003111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric neuroendocrine neoplasm", "equivalent_identifiers": ["MONDO:0003111", "DOID:4715", "orphanet:100075", "UMLS:C1333783", "MEDDRA:10090772", "MEDDRA:10090774", "NCIT:C5696", "SNOMEDCT:721194008", "medgen:232548"], "information_content": 79.9}
{"id": "MONDO:0006874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obstructive jaundice", "equivalent_identifiers": ["MONDO:0006874", "DOID:13603", "EFO:1001068", "UMLS:C0022354", "MESH:D041781", "MEDDRA:10008640", "MEDDRA:10023129", "MEDDRA:10029982", "MEDDRA:10049893", "MEDDRA:10087822", "NCIT:C34742", "SNOMEDCT:44018007", "SNOMEDCT:59848001", "medgen:43988"], "information_content": 100.0}
{"id": "MONDO:0002155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholecystitis", "equivalent_identifiers": ["MONDO:0002155", "DOID:1949", "UMLS:C0008325", "UMLS:C0085694", "MESH:D002764", "MEDDRA:10008612", "MEDDRA:10008617", "MEDDRA:10008618", "MEDDRA:10008619", "MEDDRA:10008847", "MEDDRA:10017633", "MEDDRA:10021955", "MEDDRA:10072027", "NCIT:C34465", "NCIT:C35146", "SNOMEDCT:20824003", "SNOMEDCT:76581006", "medgen:920", "icd11.foundation:786251500", "ICD10:K81", "ICD9:575.10", "HP:0001082"], "information_content": 85.5}
{"id": "MONDO:0016723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pineocytoma", "equivalent_identifiers": ["MONDO:0016723", "DOID:0081248", "orphanet:251912", "EFO:1000476", "UMLS:C0917890", "MEDDRA:10035059", "NCIT:C6966", "SNOMEDCT:1156473003", "SNOMEDCT:255045009", "SNOMEDCT:89096009", "medgen:183004", "icd11.foundation:2055142333", "HP:0030407"], "information_content": 95.4}
{"id": "MONDO:0016730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gangliocytoma", "equivalent_identifiers": ["MONDO:0016730", "DOID:2426", "orphanet:251937", "UMLS:C5779630", "MESH:D005729", "MEDDRA:10017700", "NCIT:C6934", "medgen:1830324", "HP:0034952"], "information_content": 90.9}
{"id": "MONDO:0006372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituicytoma", "equivalent_identifiers": ["MONDO:0006372", "DOID:0081280", "orphanet:251623", "EFO:1000477", "UMLS:C2986550", "MEDDRA:10089140", "NCIT:C94524", "SNOMEDCT:450901008", "SNOMEDCT:608817003", "medgen:458776", "HP:0011754"], "information_content": 100.0}
{"id": "MONDO:0003435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcystic adenoma", "equivalent_identifiers": ["MONDO:0003435", "DOID:5403", "UMLS:C0205648", "NCIT:C3685", "SNOMEDCT:79494009", "medgen:64420"], "information_content": 95.4}
{"id": "MONDO:0016733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ganglioglioma", "equivalent_identifiers": ["MONDO:0016733", "DOID:5078", "orphanet:251949", "EFO:0003094", "UMLS:C0206716", "UMLS:C1332202", "UMLS:C1332969", "MESH:D018303", "MEDDRA:10017701", "NCIT:C27362", "NCIT:C27363", "NCIT:C3788", "SNOMEDCT:1162662003", "SNOMEDCT:87191000119100", "medgen:60216", "icd11.foundation:1287417975", "HP:0033664"], "information_content": 92.8}
{"id": "MONDO:0056798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disorder of appendix", "equivalent_identifiers": ["MONDO:0056798", "DOID:60000", "EFO:0009542", "UMLS:C0267613", "MEDDRA:10003016", "MEDDRA:10060960", "NCIT:C173799", "SNOMEDCT:18526009", "medgen:540821"], "information_content": 69.7}
{"id": "MONDO:0004180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign urinary system neoplasm", "equivalent_identifiers": ["MONDO:0004180", "DOID:731", "UMLS:C0686167", "UMLS:C5779670", "MESH:D014571", "MEDDRA:10004470", "MEDDRA:10046584", "MEDDRA:10061006", "NCIT:C192667", "NCIT:C4893", "SNOMEDCT:92468007", "medgen:146348"], "information_content": 72.9}
{"id": "MONDO:0007955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel diverticulum", "equivalent_identifiers": ["MONDO:0007955", "DOID:9487", "OMIM:155140", "EFO:1001036", "UMLS:C0025037", "MESH:D008467", "MEDDRA:10013561", "MEDDRA:10027055", "NCIT:C12264", "SNOMEDCT:127962001", "SNOMEDCT:37373007", "medgen:9917", "icd11.foundation:216192536", "ICD10:Q43.0", "ICD9:751.0", "HP:0002245"], "information_content": 75.2}
{"id": "MONDO:0002808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic serous cystadenoma", "equivalent_identifiers": ["MONDO:0002808", "DOID:3917", "UMLS:C1335316", "MEDDRA:10071700", "NCIT:C5712", "SNOMEDCT:690761000119100", "medgen:233833"], "information_content": 92.8}
{"id": "NCBIGene:51804", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIX4", "equivalent_identifiers": ["NCBIGene:51804", "ENSEMBL:ENSG00000100625", "HGNC:10890", "OMIM:606342", "UMLS:C1420075", "UniProtKB:Q9UIU6", "PR:Q9UIU6", "ENSEMBL:ENSP00000216513", "ENSEMBL:ENSP00000216513.4", "UMLS:C1449179", "UMLS:C3829673", "MESH:C490851"], "information_content": 100.0}
{"id": "MONDO:0018878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branchiootic syndrome", "equivalent_identifiers": ["MONDO:0018878", "DOID:0060232", "OMIM.PS:602588", "orphanet:52429", "UMLS:C4273131", "MESH:C537104", "SNOMEDCT:764810000", "medgen:1636666", "ICD10:Q87.0"], "information_content": 90.9}
{"id": "NCBIGene:6554", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC10A1", "equivalent_identifiers": ["NCBIGene:6554", "ENSEMBL:ENSG00000100652", "HGNC:10905", "OMIM:182396", "UMLS:C1420086", "UniProtKB:B2RA41", "UMLS:C1451289", "UniProtKB:Q14973", "PR:Q14973", "ENSEMBL:ENSP00000216540", "ENSEMBL:ENSP00000216540.4"], "information_content": 100.0}
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{"id": "NCBIGene:623", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BDKRB1", "equivalent_identifiers": ["NCBIGene:623", "ENSEMBL:ENSG00000100739", "HGNC:1029", "OMIM:600337", "UMLS:C1439290", "UniProtKB:P46663", "PR:P46663", "ENSEMBL:ENSP00000216629", "ENSEMBL:ENSP00000216629.6", "ENSEMBL:ENSP00000479276", "ENSEMBL:ENSP00000479276.1", "UMLS:C5780935"], "information_content": 100.0}
{"id": "MONDO:0007361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C1 inhibitor deficiency", "equivalent_identifiers": ["MONDO:0007361", "DOID:0060002", "OMIM:120790", "UMLS:C1852700", "MESH:C565168", "medgen:343867"], "information_content": 100.0}
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{"id": "MONDO:0008891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "riboflavin transporter deficiency", "equivalent_identifiers": ["MONDO:0008891", "DOID:0050694", "OMIM.PS:211530", "orphanet:97229", "UMLS:C4551777", "MESH:C537111", "MEDDRA:10084089", "MEDDRA:10084093", "SNOMEDCT:699866005", "medgen:1634394"], "information_content": 88.2}
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{"id": "UniProtKB:Q86U42-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyadenylate-binding protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86U42-1", "PR:Q86U42-1", "ENSEMBL:ENSP00000216727", "ENSEMBL:ENSP00000216727.4"], "information_content": 100.0}
{"id": "MONDO:0001008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharophimosis", "equivalent_identifiers": ["MONDO:0001008", "DOID:10348", "UMLS:C0005744", "MESH:D016569", "MEDDRA:10005155", "medgen:2670", "ICD10:H02.52", "ICD9:374.46", "HP:0000581"], "information_content": 92.8}
{"id": "MONDO:0800026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease", "equivalent_identifiers": ["MONDO:0800026", "DOID:0060731", "OMIM:209880", "orphanet:661", "UMLS:C0020681", "UMLS:C5562075", "MEDDRA:10007982", "NCIT:C98889", "SNOMEDCT:230499002", "SNOMEDCT:405272003", "medgen:1794285", "icd11.foundation:1750742010"], "information_content": 100.0}
{"id": "UniProtKB:O43281-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "embryonal Fyn-associated substrate isoform hEfs1 (human)", "equivalent_identifiers": ["UniProtKB:O43281-1", "PR:O43281-1", "ENSEMBL:ENSP00000216733", "ENSEMBL:ENSP00000216733.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BW66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 2-interacting protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BW66-1", "PR:Q9BW66-1", "ENSEMBL:ENSP00000216756", "ENSEMBL:ENSP00000216756.6", "ENSEMBL:ENSP00000453839", "ENSEMBL:ENSP00000453839.1"], "information_content": 100.0}
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{"id": "NCBIGene:4792", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NFKBIA", "equivalent_identifiers": ["NCBIGene:4792", "ENSEMBL:ENSG00000100906", "HGNC:7797", "OMIM:164008", "UMLS:C1334877", "UniProtKB:P25963", "PR:P25963", "ENSEMBL:ENSP00000216797", "ENSEMBL:ENSP00000216797.6", "UMLS:C2002434", "MESH:C000606204"], "information_content": 82.1}
{"id": "MONDO:0002256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervix disorder", "equivalent_identifiers": ["MONDO:0002256", "DOID:2253", "UMLS:C0007867", "MESH:D002577", "MEDDRA:10008351", "MEDDRA:10013204", "MEDDRA:10013281", "MEDDRA:10046780", "MEDDRA:10048920", "NCIT:C40241", "SNOMEDCT:63339007", "medgen:2970"], "information_content": 62.5}
{"id": "MONDO:0000918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endometritis", "equivalent_identifiers": ["MONDO:0000918", "DOID:1002", "EFO:1001312", "UMLS:C0014179", "MESH:D004716", "MEDDRA:10014791", "MEDDRA:10014795", "NCIT:C26764", "SNOMEDCT:78623009", "medgen:41789", "HP:0025636"], "information_content": 87.2}
{"id": "NCBIGene:5721", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSME2", "equivalent_identifiers": ["NCBIGene:5721", "ENSEMBL:ENSG00000100911", "HGNC:9569", "OMIM:602161", "UMLS:C1419042", "UniProtKB:Q86SZ7", "UMLS:C0753808", "MESH:C486207", "UniProtKB:Q9UL46", "PR:Q9UL46", "ENSEMBL:ENSP00000216802", "ENSEMBL:ENSP00000216802.5", "ENSEMBL:ENSP00000495790", "ENSEMBL:ENSP00000495790.1"], "information_content": 84.8}
{"id": "UniProtKB:Q5PSV4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "breast cancer metastasis-suppressor 1-like protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5PSV4-1", "PR:Q5PSV4-1", "ENSEMBL:ENSP00000216807", "ENSEMBL:ENSP00000216807.6"], "information_content": 100.0}
{"id": "MONDO:0001187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urinary bladder cancer", "equivalent_identifiers": ["MONDO:0001187", "DOID:11054", "OMIM:109800", "UMLS:C0005684", "MEDDRA:10005003", "MEDDRA:10005004", "MEDDRA:10005013", "MEDDRA:10025735", "MEDDRA:10025753", "NCIT:C9334", "SNOMEDCT:399326009", "medgen:14150", "ICD10:C67", "ICD9:188", "KEGG.DISEASE:05219"], "information_content": 65.4}
{"id": "NCBIGene:5411", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PNN", "equivalent_identifiers": ["NCBIGene:5411", "ENSEMBL:ENSG00000100941", "HGNC:9162", "OMIM:603154", "UMLS:C1418715", "UniProtKB:Q9H307", "PR:Q9H307", "ENSEMBL:ENSP00000216832", "ENSEMBL:ENSP00000216832.4", "UMLS:C1447464", "MESH:C102646"], "information_content": 95.4}
{"id": "MONDO:0014561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria, type VIIB", "equivalent_identifiers": ["MONDO:0014561", "DOID:0081134", "DOID:0110003", "OMIM:616271", "orphanet:445038", "EFO:0009014", "UMLS:C4225393", "UMLS:C5676893", "SNOMEDCT:764860006", "medgen:1810214"], "information_content": 100.0}
{"id": "UniProtKB:Q07973-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q07973-1", "PR:Q07973-1", "ENSEMBL:ENSP00000216862", "ENSEMBL:ENSP00000216862.3"], "information_content": 100.0}
{"id": "MONDO:0024299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin D-dependent rickets", "equivalent_identifiers": ["MONDO:0024299", "DOID:0080883", "UMLS:C0221468", "MEDDRA:10000643", "MEDDRA:10039124", "SNOMEDCT:190640006", "SNOMEDCT:68295002", "medgen:526251", "ICD10:E55.0", "ICD9:268.0"], "information_content": 86.3}
{"id": "MONDO:0005890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brown tumor", "equivalent_identifiers": ["MONDO:0005890", "DOID:3341", "EFO:0007413", "UMLS:C0029405", "MESH:D010002", "MEDDRA:10047713", "MEDDRA:10064651", "MEDDRA:10070487", "MEDDRA:10070489", "NCIT:C34875", "SNOMEDCT:84727000", "medgen:14529", "HP:6000089"], "information_content": 100.0}
{"id": "NCBIGene:6790", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AURKA", "equivalent_identifiers": ["NCBIGene:6790", "ENSEMBL:ENSG00000087586", "HGNC:11393", "OMIM:603072", "UMLS:C1420466", "UniProtKB:O14965", "PR:O14965", "ENSEMBL:ENSP00000216911", "ENSEMBL:ENSP00000216911.2", "ENSEMBL:ENSP00000321591", "ENSEMBL:ENSP00000321591.6", "ENSEMBL:ENSP00000360407", "ENSEMBL:ENSP00000360407.2", "ENSEMBL:ENSP00000379247", "ENSEMBL:ENSP00000379247.1", "ENSEMBL:ENSP00000379249", "ENSEMBL:ENSP00000379249.3", "ENSEMBL:ENSP00000379250", "ENSEMBL:ENSP00000379250.1", "ENSEMBL:ENSP00000379251", "ENSEMBL:ENSP00000379251.3", "UMLS:C3711557", "MESH:C576917"], "information_content": 89.4}
{"id": "MONDO:0009517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Donohue syndrome", "equivalent_identifiers": ["MONDO:0009517", "DOID:0050470", "OMIM:246200", "orphanet:508", "UMLS:C0265344", "UMLS:C0271689", "MESH:C562709", "MESH:D056731", "MEDDRA:10081896", "MEDDRA:10081903", "NCIT:C84676", "SNOMEDCT:10680005", "SNOMEDCT:111307005", "medgen:82708"], "information_content": 100.0}
{"id": "UniProtKB:Q9NTW7-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 64 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NTW7-5", "PR:Q9NTW7-5", "ENSEMBL:ENSP00000216923", "ENSEMBL:ENSP00000216923.4"], "information_content": 100.0}
{"id": "NCBIGene:5834", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PYGB", "equivalent_identifiers": ["NCBIGene:5834", "ENSEMBL:ENSG00000100994", "HGNC:9723", "OMIM:138550", "UMLS:C1419154", "UniProtKB:P11216", "PR:P11216", "ENSEMBL:ENSP00000216962", "ENSEMBL:ENSP00000216962.3", "UMLS:C5958731"], "information_content": 87.2}
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{"id": "UniProtKB:P10244-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Myb-related protein B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P10244-1", "PR:P10244-1", "ENSEMBL:ENSP00000217026", "ENSEMBL:ENSP00000217026.4"], "information_content": 100.0}
{"id": "NCBIGene:140902", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "R3HDML", "equivalent_identifiers": ["NCBIGene:140902", "ENSEMBL:ENSG00000101074", "HGNC:16249", "UMLS:C1424122", "UniProtKB:Q9H3Y0", "PR:Q9H3Y0", "ENSEMBL:ENSP00000217043", "ENSEMBL:ENSP00000217043.3"], "information_content": 95.4}
{"id": "MONDO:0032842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Siddiqi syndrome", "equivalent_identifiers": ["MONDO:0032842", "DOID:0081273", "OMIM:618635", "EFO:0010633", "UMLS:C5231435", "medgen:1684813"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJQ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Sal-like protein 4 isoform hSALL4A (human)", "equivalent_identifiers": ["UniProtKB:Q9UJQ4-1", "PR:Q9UJQ4-1", "ENSEMBL:ENSP00000217086", "ENSEMBL:ENSP00000217086.4"], "information_content": 100.0}
{"id": "MONDO:0011812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duane-radial ray syndrome", "equivalent_identifiers": ["MONDO:0011812", "DOID:0060747", "OMIM:607323", "orphanet:93293", "orphanet:959", "UMLS:C0751084", "UMLS:C1623209", "UMLS:C5848304", "SNOMEDCT:699867001", "SNOMEDCT:720415006", "medgen:301647"], "information_content": 92.8}
{"id": "MONDO:0007142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Townes syndrome", "equivalent_identifiers": ["MONDO:0007142", "DOID:0050887", "OMIM.PS:107480", "orphanet:857", "UMLS:C0265246", "MESH:C536974", "NCIT:C99085", "SNOMEDCT:24750000", "medgen:75555", "icd11.foundation:66554749"], "information_content": 92.8}
{"id": "MONDO:0007836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IVIC syndrome", "equivalent_identifiers": ["MONDO:0007836", "DOID:0111381", "OMIM:147750", "orphanet:2307", "UMLS:C1327918", "MESH:C535544", "SNOMEDCT:722019000", "medgen:233003"], "information_content": 100.0}
{"id": "MONDO:0007732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Holt-Oram syndrome", "equivalent_identifiers": ["MONDO:0007732", "DOID:0060468", "OMIM:142900", "orphanet:392", "UMLS:C0265264", "MESH:C535326", "MEDDRA:10050469", "NCIT:C125592", "SNOMEDCT:19092004", "medgen:120524", "ICD10:Q87.2"], "information_content": 95.4}
{"id": "MONDO:0015397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial microsomia", "equivalent_identifiers": ["MONDO:0015397", "DOID:2907", "OMIM.PS:164210", "orphanet:141132", "UMLS:C0265240", "MESH:D006053", "MEDDRA:10050349", "MEDDRA:10051934", "NCIT:C84740", "SNOMEDCT:1010685005", "SNOMEDCT:109393007", "SNOMEDCT:205418005", "SNOMEDCT:254026007", "SNOMEDCT:367462009", "SNOMEDCT:703973009", "medgen:75554"], "information_content": 92.8}
{"id": "MONDO:0100216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DICER1 syndrome", "equivalent_identifiers": ["MONDO:0100216", "DOID:0081063", "orphanet:284343", "UMLS:C3839822", "NCIT:C123317", "SNOMEDCT:702411003", "medgen:825667"], "information_content": 85.5}
{"id": "NCBIGene:1477", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSTF1", "equivalent_identifiers": ["NCBIGene:1477", "ENSEMBL:ENSG00000101138", "HGNC:2483", "OMIM:600369", "UMLS:C1413779", "UniProtKB:Q05048", "PR:Q05048", "ENSEMBL:ENSP00000217109", "ENSEMBL:ENSP00000217109.4"], "information_content": 87.2}
{"id": "MONDO:0008116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculopharyngeal muscular dystrophy", "equivalent_identifiers": ["MONDO:0008116", "DOID:11719", "OMIM.PS:164300", "orphanet:270", "UMLS:C0270952", "MESH:D039141", "MEDDRA:10052181", "SNOMEDCT:77097004", "medgen:75730", "icd11.foundation:1354386293", "ICD10:G71.09"], "information_content": 92.8}
{"id": "UniProtKB:O43399-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor protein D54 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:O43399-7", "PR:O43399-7", "ENSEMBL:ENSP00000217121", "ENSEMBL:ENSP00000217121.5"], "information_content": 100.0}
{"id": "NCBIGene:1522", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTSZ", "equivalent_identifiers": ["NCBIGene:1522", "ENSEMBL:ENSG00000101160", "HGNC:2547", "OMIM:603169", "UMLS:C1332808", "UniProtKB:Q9UBR2", "PR:Q9UBR2", "ENSEMBL:ENSP00000217131", "ENSEMBL:ENSP00000217131.5", "UMLS:C1741101", "MESH:C534182"], "information_content": 83.1}
{"id": "MONDO:0014471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial proton-transporting ATP synthase complex deficiency", "equivalent_identifiers": ["MONDO:0014471", "DOID:0111143", "OMIM.PS:604273", "orphanet:254913", "UMLS:C4757950", "SNOMEDCT:780820008", "medgen:1655626", "icd11.foundation:902255625"], "information_content": 85.5}
{"id": "NCBIGene:81027", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBB1", "equivalent_identifiers": ["NCBIGene:81027", "ENSEMBL:ENSG00000101162", "HGNC:16257", "OMIM:612901", "UMLS:C1424130", "UniProtKB:Q9H4B7", "PR:Q9H4B7", "ENSEMBL:ENSP00000217133", "ENSEMBL:ENSP00000217133.1", "UMLS:C3657825", "MESH:C578986"], "information_content": 89.4}
{"id": "MONDO:0018612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital hypothyroidism", "equivalent_identifiers": ["MONDO:0018612", "DOID:0050328", "orphanet:442", "UMLS:C0010308", "UMLS:C3165526", "MESH:D003409", "MEDDRA:10010510", "MEDDRA:10011381", "MEDDRA:10021115", "NCIT:C197816", "NCIT:C26734", "NCIT:C27116", "SNOMEDCT:190268003", "SNOMEDCT:217710005", "medgen:41344", "icd11.foundation:602450215", "ICD10:E00.1", "ICD10:E03.1", "ICD9:243", "HP:0000851"], "information_content": 76.4}
{"id": "UniProtKB:Q96BD0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier organic anion transporter family member 4A1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BD0-1", "PR:Q96BD0-1", "ENSEMBL:ENSP00000217159", "ENSEMBL:ENSP00000217159.1", "ENSEMBL:ENSP00000359538", "ENSEMBL:ENSP00000359538.1"], "information_content": 100.0}
{"id": "MONDO:0016620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary hypertrophic osteoarthropathy", "equivalent_identifiers": ["MONDO:0016620", "DOID:14283", "OMIM.PS:259100", "orphanet:248095", "orphanet:2796", "UMLS:C0029411", "MESH:D010004", "MEDDRA:10051686", "NCIT:C85023", "SNOMEDCT:223726008", "SNOMEDCT:88220006", "medgen:18210", "icd11.foundation:792225761"], "information_content": 89.4}
{"id": "UniProtKB:Q96CA5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "baculoviral IAP repeat-containing protein 7 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q96CA5-1", "PR:Q96CA5-1", "ENSEMBL:ENSP00000217169", "ENSEMBL:ENSP00000217169.3"], "information_content": 100.0}
{"id": "UniProtKB:O94941-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RING finger protein 37 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94941-1", "PR:O94941-1", "ENSEMBL:ENSP00000217173", "ENSEMBL:ENSP00000217173.2"], "information_content": 100.0}
{"id": "MONDO:0007450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurohypophyseal diabetes insipidus", "equivalent_identifiers": ["MONDO:0007450", "DOID:0081059", "DOID:12388", "OMIM:125700", "orphanet:30925", "UMLS:C0342394", "NCIT:C84933", "SNOMEDCT:237696003", "SNOMEDCT:45369008", "medgen:574999", "icd11.foundation:97299603"], "information_content": 95.4}
{"id": "NCBIGene:1917", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EEF1A2", "equivalent_identifiers": ["NCBIGene:1917", "ENSEMBL:ENSG00000101210", "HGNC:3192", "OMIM:602959", "UMLS:C1414273", "UniProtKB:Q05639", "PR:Q05639", "ENSEMBL:ENSP00000217182", "ENSEMBL:ENSP00000217182.3", "UMLS:C1531428", "MESH:C503234"], "information_content": 88.2}
{"id": "MONDO:0003472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pediculosis", "equivalent_identifiers": ["MONDO:0003472", "DOID:5502", "UMLS:C0030756", "MESH:D010373", "MEDDRA:10024424", "MEDDRA:10034208", "MEDDRA:10034213", "NCIT:C128401", "SNOMEDCT:20848007", "SNOMEDCT:414618002", "medgen:18339", "ICD10:B85.2", "ICD9:132.9"], "information_content": 90.9}
{"id": "UniProtKB:P68400-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "casein kinase II subunit alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P68400-1", "PR:P68400-1", "ENSEMBL:ENSP00000217244", "ENSEMBL:ENSP00000217244.3", "ENSEMBL:ENSP00000383076", "ENSEMBL:ENSP00000383076.2", "ENSEMBL:ENSP00000495248", "ENSEMBL:ENSP00000495248.1", "ENSEMBL:ENSP00000495422", "ENSEMBL:ENSP00000495422.1", "ENSEMBL:ENSP00000495902", "ENSEMBL:ENSP00000495902.1", "ENSEMBL:ENSP00000495912", "ENSEMBL:ENSP00000495912.1", "ENSEMBL:ENSP00000495998", "ENSEMBL:ENSP00000495998.1", "ENSEMBL:ENSP00000496569", "ENSEMBL:ENSP00000496569.1"], "information_content": 100.0}
{"id": "UniProtKB:A1Z1Q3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribose glycohydrolase MACROD2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:A1Z1Q3-2", "PR:A1Z1Q3-2", "ENSEMBL:ENSP00000217246", "ENSEMBL:ENSP00000217246.4"], "information_content": 100.0}
{"id": "UniProtKB:Q2I0M5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "R-spondin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2I0M5-1", "PR:Q2I0M5-1", "ENSEMBL:ENSP00000217260", "ENSEMBL:ENSP00000217260.4"], "information_content": 100.0}
{"id": "MONDO:0010110", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetraamelia-multiple malformations syndrome", "equivalent_identifiers": ["MONDO:0010110", "DOID:0112191", "OMIM.PS:273395", "orphanet:3301", "UMLS:C2931218", "MESH:C536500", "SNOMEDCT:716249009", "medgen:419746"], "information_content": 92.8}
{"id": "MONDO:0008582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Witkop syndrome", "equivalent_identifiers": ["MONDO:0008582", "DOID:6678", "OMIM:189500", "orphanet:2228", "UMLS:C0406735", "MESH:C536736", "NCIT:C40553", "SNOMEDCT:400036004", "medgen:140809"], "information_content": 92.8}
{"id": "NCBIGene:128674", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PROKR2", "equivalent_identifiers": ["NCBIGene:128674", "ENSEMBL:ENSG00000101292", "HGNC:15836", "OMIM:607123", "UMLS:C1826705", "UniProtKB:A8K1T0", "UniProtKB:Q8NFJ6", "PR:Q8NFJ6", "ENSEMBL:ENSP00000217270", "ENSEMBL:ENSP00000217270.3", "ENSEMBL:ENSP00000504128", "ENSEMBL:ENSP00000504128.1", "UMLS:C1173927", "MESH:C470838"], "information_content": 100.0}
{"id": "MONDO:0008428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "septooptic dysplasia", "equivalent_identifiers": ["MONDO:0008428", "DOID:0060857", "OMIM:182230", "orphanet:3157", "UMLS:C0338503", "UMLS:C2750027", "MESH:C567632", "MESH:D025962", "MEDDRA:10053146", "MEDDRA:10067159", "NCIT:C85063", "SNOMEDCT:7611002", "medgen:90926", "HP:0100842"], "information_content": 92.8}
{"id": "MONDO:0018470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal agenesis", "equivalent_identifiers": ["MONDO:0018470", "DOID:14766", "OMIM.PS:191830", "orphanet:411709", "UMLS:C0542519", "MEDDRA:10038354", "MEDDRA:10038356", "NCIT:C99041", "SNOMEDCT:204942005", "medgen:154237", "icd11.foundation:683319223", "HP:0000104"], "information_content": 86.3}
{"id": "MONDO:0012155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choanal atresia", "equivalent_identifiers": ["MONDO:0012155", "DOID:9574", "OMIM:608911", "orphanet:137914", "UMLS:C0008297", "UMLS:C0220723", "MESH:C562435", "MESH:D002754", "MEDDRA:10008587", "SNOMEDCT:204508009", "medgen:3395", "icd11.foundation:2099486655", "ICD10:Q30.0", "ICD9:748.0", "HP:0000453"], "information_content": 89.4}
{"id": "MONDO:0007354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coloboma of optic nerve", "equivalent_identifiers": ["MONDO:0007354", "DOID:11975", "OMIM:120430", "orphanet:98947", "UMLS:C0155299", "MESH:C535970", "SNOMEDCT:17541006", "SNOMEDCT:44295002", "medgen:57832", "icd11.foundation:592278969", "ICD10:Q14.2", "ICD9:377.23", "HP:0000588"], "information_content": 95.4}
{"id": "MONDO:0018309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hirschsprung disease", "equivalent_identifiers": ["MONDO:0018309", "DOID:10487", "OMIM.PS:142623", "orphanet:388", "UMLS:C0019569", "MESH:D006627", "MEDDRA:10001472", "MEDDRA:10010539", "MEDDRA:10020109", "MEDDRA:10027113", "MEDDRA:10034276", "MEDDRA:10078849", "NCIT:C34700", "SNOMEDCT:204739008", "medgen:5559", "icd11.foundation:1772690306", "ICD10:Q43.1", "HP:0002251"], "information_content": 83.6}
{"id": "MONDO:0010264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked adrenal hypoplasia congenita", "equivalent_identifiers": ["MONDO:0010264", "DOID:0080156", "OMIM:300200", "orphanet:95702", "UMLS:C0220766", "UMLS:C0342482", "MEDDRA:10049057", "NCIT:C123725", "SNOMEDCT:237764004", "SNOMEDCT:93235007", "medgen:87442", "HP:0008244"], "information_content": 95.4}
{"id": "MONDO:0004201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary hypoplasia", "equivalent_identifiers": ["MONDO:0004201", "DOID:7378", "UMLS:C0948740", "UMLS:C1859775", "MEDDRA:10051944", "NCIT:C27343", "medgen:215300", "HP:0010627"], "information_content": 95.4}
{"id": "MONDO:0030953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2", "equivalent_identifiers": ["MONDO:0030953", "DOID:0112358", "OMIM:619184", "UMLS:C5543057", "medgen:1782253"], "information_content": 100.0}
{"id": "MONDO:0004782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes insipidus", "equivalent_identifiers": ["MONDO:0004782", "DOID:9409", "UMLS:C0011848", "MESH:D003919", "MEDDRA:10012599", "NCIT:C43263", "SNOMEDCT:1296758008", "SNOMEDCT:15771004", "medgen:8349", "ICD10:E23.2", "ICD9:253.5", "HP:0000873"], "information_content": 84.2}
{"id": "UniProtKB:Q9BQL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fermitin family homolog 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQL6-1", "PR:Q9BQL6-1", "ENSEMBL:ENSP00000217289", "ENSEMBL:ENSP00000217289.4", "ENSEMBL:ENSP00000514127", "ENSEMBL:ENSP00000514127.1"], "information_content": 100.0}
{"id": "MONDO:0006904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phimosis", "equivalent_identifiers": ["MONDO:0006904", "DOID:2712", "EFO:1001104", "UMLS:C0031538", "UMLS:C0345326", "MESH:D010688", "MEDDRA:10034878", "MEDDRA:10043855", "NCIT:C26852", "NCIT:C27124", "SNOMEDCT:198006006", "SNOMEDCT:253854008", "SNOMEDCT:449826002", "medgen:87496", "icd11.foundation:184957512", "ICD10:N47.1", "HP:0001741"], "information_content": 92.8}
{"id": "NCBIGene:140711", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLDC2", "equivalent_identifiers": ["NCBIGene:140711", "ENSEMBL:ENSG00000101342", "HGNC:16112", "UMLS:C1423993", "UniProtKB:A0PJX2", "PR:A0PJX2", "ENSEMBL:ENSP00000217320", "ENSEMBL:ENSP00000217320.3", "ENSEMBL:ENSP00000473323", "ENSEMBL:ENSP00000473323.1"], "information_content": 100.0}
{"id": "MONDO:0009046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fraser syndrome", "equivalent_identifiers": ["MONDO:0009046", "DOID:0090001", "OMIM.PS:219000", "orphanet:2052", "UMLS:C0265233", "MESH:D058497", "MEDDRA:10080219", "NCIT:C118436", "NCIT:C98908", "SNOMEDCT:204102004", "medgen:82692", "icd11.foundation:968262849"], "information_content": 90.9}
{"id": "UniProtKB:Q96SZ6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96SZ6-3", "PR:Q96SZ6-3", "ENSEMBL:ENSP00000217372", "ENSEMBL:ENSP00000217372.2"], "information_content": 100.0}
{"id": "MONDO:0014684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 26", "equivalent_identifiers": ["MONDO:0014684", "DOID:0111490", "OMIM:616539", "orphanet:477684", "EFO:0009036", "UMLS:C5567741", "SNOMEDCT:1173034002", "medgen:1799164"], "information_content": 100.0}
{"id": "MONDO:0800491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-infantile DEE", "equivalent_identifiers": ["MONDO:0800491", "DOID:0050709", "DOID:308", "orphanet:1934", "UMLS:C0270855", "NCIT:C116593", "SNOMEDCT:230429005", "SNOMEDCT:44423001", "icd11.foundation:1877241469"], "information_content": 90.9}
{"id": "UniProtKB:Q13424-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-1-syntrophin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13424-1", "PR:Q13424-1", "ENSEMBL:ENSP00000217381", "ENSEMBL:ENSP00000217381.2"], "information_content": 100.0}
{"id": "NCBIGene:5020", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OXT", "equivalent_identifiers": ["NCBIGene:5020", "ENSEMBL:ENSG00000101405", "HGNC:8528", "OMIM:167050", "UMLS:C1418208", "UniProtKB:P01178", "PR:P01178", "ENSEMBL:ENSP00000217386", "ENSEMBL:ENSP00000217386.2", "UMLS:C4082165", "UMLS:C4283944", "UniProtKB:X5D7M6"], "information_content": 88.2}
{"id": "MONDO:0000409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chorioamnionitis", "equivalent_identifiers": ["MONDO:0000409", "DOID:0050697", "EFO:0009948", "UMLS:C0008495", "MESH:D002821", "MEDDRA:10008755", "NCIT:C26720", "SNOMEDCT:11612004", "medgen:3056"], "information_content": 95.4}
{"id": "MONDO:0004936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uterine inversion", "equivalent_identifiers": ["MONDO:0004936", "DOID:997", "EFO:1001446", "UMLS:C0162482", "UMLS:C0269886", "MESH:D019687", "MEDDRA:10029921", "MEDDRA:10046796", "SNOMEDCT:23885003", "SNOMEDCT:27215002", "medgen:57916", "ICD10:N85.5", "ICD9:665.2"], "information_content": 100.0}
{"id": "MONDO:0005916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "placenta accreta", "equivalent_identifiers": ["MONDO:0005916", "DOID:4744", "orphanet:662721", "EFO:0007440", "UMLS:C0032044", "MESH:D010921", "MEDDRA:10062936", "NCIT:C26856", "SNOMEDCT:70129008", "medgen:10780", "icd11.foundation:298160226", "ICD10:O43.21", "HP:0025654"], "information_content": 100.0}
{"id": "MONDO:0005918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Placenta Previa", "equivalent_identifiers": ["MONDO:0005918", "DOID:11060", "EFO:0007442", "UMLS:C0032046", "MESH:D010923", "MEDDRA:10035119", "MEDDRA:10074685", "NCIT:C26858", "SNOMEDCT:36813001", "medgen:10782", "ICD10:O44", "HP:0430070"], "information_content": 95.4}
{"id": "MONDO:0005881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oligohydramnios", "equivalent_identifiers": ["MONDO:0005881", "DOID:12215", "EFO:0007401", "UMLS:C0079924", "UMLS:C0740948", "UMLS:C3550658", "MESH:D016104", "MEDDRA:10030289", "MEDDRA:10075866", "MEDDRA:10075869", "NCIT:C92839", "SNOMEDCT:59566000", "medgen:86974", "icd11.foundation:262953341", "ICD10:O41.0", "ICD9:658.0", "HP:0001562"], "information_content": 95.4}
{"id": "MONDO:0006663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "perinatal asphyxia", "equivalent_identifiers": ["MONDO:0006663", "DOID:11088", "orphanet:137577", "EFO:1000824", "UMLS:C0004045", "UMLS:C0559477", "MESH:D001238", "MEDDRA:10003500", "MEDDRA:10004943", "MEDDRA:10028923", "MEDDRA:10073494", "NCIT:C116313", "SNOMEDCT:281578009", "SNOMEDCT:28314004", "SNOMEDCT:413654009", "medgen:2469", "icd11.foundation:1281282034", "ICD10:P84", "ICD9:768.9", "HP:0012768"], "information_content": 100.0}
{"id": "MONDO:0001780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ejaculation", "equivalent_identifiers": ["MONDO:0001780", "DOID:13709", "EFO:0803321", "UMLS:C0033038", "MESH:D061686", "MEDDRA:10014330", "MEDDRA:10036596", "MEDDRA:10036597", "MEDDRA:10081554", "NCIT:C94349", "SNOMEDCT:44001008", "medgen:452112", "ICD10:F52.4", "ICD9:302.75", "HP:0012876"], "information_content": 100.0}
{"id": "MONDO:0001821", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoactive sexual desire disorder", "equivalent_identifiers": ["MONDO:0001821", "DOID:13868", "UMLS:C0020594", "MEDDRA:10020933", "NCIT:C94337", "SNOMEDCT:270903007", "medgen:43792", "ICD10:F52.0", "ICD9:302.71"], "information_content": 100.0}
{"id": "MONDO:0003117", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "somatoform disorder", "equivalent_identifiers": ["MONDO:0003117", "DOID:4737", "EFO:0009687", "UMLS:C0037650", "MESH:D013001", "MEDDRA:10037191", "MEDDRA:10054153", "NCIT:C34956", "SNOMEDCT:31297008", "medgen:20835", "ICD10:F45", "ICD9:300.8"], "information_content": 87.2}
{"id": "MONDO:0001160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dissociative disorder", "equivalent_identifiers": ["MONDO:0001160", "DOID:10935", "UMLS:C0012746", "UMLS:C0041857", "MESH:D004213", "MEDDRA:10013462", "MEDDRA:10013463", "MEDDRA:10013464", "MEDDRA:10013465", "NCIT:C92197", "SNOMEDCT:44376007", "medgen:3871", "ICD10:F44.9", "ICD10:F48.9", "ICD9:300.15", "ICD9:300.9"], "information_content": 89.4}
{"id": "MONDO:0005303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "drug dependence", "equivalent_identifiers": ["MONDO:0005303", "DOID:9974", "EFO:0003890", "UMLS:C0029792", "UMLS:C1510472", "MEDDRA:10001127", "MEDDRA:10012337", "MEDDRA:10013658", "MEDDRA:10013663", "MEDDRA:10013666", "MEDDRA:10013677", "MEDDRA:10045850", "NCIT:C3894", "SNOMEDCT:191816009", "medgen:307144", "ICD9:304.60", "HP:0033511"], "information_content": 81.3}
{"id": "MONDO:0014243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schaaf-Yang syndrome", "equivalent_identifiers": ["MONDO:0014243", "DOID:0111715", "OMIM:615547", "orphanet:398069", "UMLS:C1859724", "UMLS:C5575066", "MESH:C000726748", "MESH:C535385", "SNOMEDCT:1229946007", "medgen:1807366"], "information_content": 100.0}
{"id": "MONDO:0018907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniopharyngioma", "equivalent_identifiers": ["MONDO:0018907", "DOID:3840", "orphanet:54595", "EFO:1000209", "UMLS:C0010276", "MESH:D003397", "MEDDRA:10011318", "NCIT:C2964", "SNOMEDCT:189179009", "SNOMEDCT:40009002", "medgen:41339", "HP:0030062"], "information_content": 82.1}
{"id": "MONDO:0005698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical incompetence", "equivalent_identifiers": ["MONDO:0005698", "DOID:9681", "EFO:0007202", "UMLS:C0007871", "MESH:D002581", "MEDDRA:10008267", "MEDDRA:10021631", "MEDDRA:10021632", "NCIT:C50607", "SNOMEDCT:17382005", "medgen:2972", "ICD10:N88.3", "ICD9:622.5", "HP:0030009"], "information_content": 100.0}
{"id": "MONDO:0002150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypothalamic disorder", "equivalent_identifiers": ["MONDO:0002150", "DOID:1931", "UMLS:C0020655", "MESH:D007027", "MEDDRA:10073187", "SNOMEDCT:399100005", "medgen:6988"], "information_content": 74.3}
{"id": "MONDO:0001132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sexual sadism", "equivalent_identifiers": ["MONDO:0001132", "DOID:10817", "UMLS:C0036039", "UMLS:C0036913", "MESH:D012448", "MEDDRA:10039367", "MEDDRA:10040487", "NCIT:C94358", "SNOMEDCT:112081003", "SNOMEDCT:59394009", "SNOMEDCT:765765000", "medgen:19957", "ICD10:F65.52", "ICD9:302.84"], "information_content": 100.0}
{"id": "MONDO:0015681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood disintegrative disorder", "equivalent_identifiers": ["MONDO:0015681", "DOID:13487", "orphanet:168782", "UMLS:C0236791", "MEDDRA:10008522", "MEDDRA:10012287", "MEDDRA:10013143", "MEDDRA:10019379", "MEDDRA:10037238", "NCIT:C97164", "SNOMEDCT:71961003", "medgen:472967", "icd11.foundation:1460615954", "ICD10:F84.3", "ICD9:299.1"], "information_content": 100.0}
{"id": "MONDO:0001504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetishism", "equivalent_identifiers": ["MONDO:0001504", "DOID:1235", "UMLS:C0015957", "MESH:D005329", "MEDDRA:10016530", "MEDDRA:10016531", "NCIT:C94353", "SNOMEDCT:59174009", "medgen:8827", "ICD10:F65.0", "ICD9:302.81"], "information_content": 100.0}
{"id": "MONDO:0000410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "funisitis", "equivalent_identifiers": ["MONDO:0000410", "DOID:0050698", "UMLS:C1275592", "MEDDRA:10064502", "NCIT:C97077", "SNOMEDCT:396343006", "medgen:226906"], "information_content": 95.4}
{"id": "MONDO:0006782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemometra", "equivalent_identifiers": ["MONDO:0006782", "DOID:9958", "EFO:1000962", "UMLS:C0018948", "MESH:D006409", "MEDDRA:10018859", "MEDDRA:10019443", "SNOMEDCT:38280009", "medgen:6776", "ICD10:N85.7", "ICD9:621.4"], "information_content": 100.0}
{"id": "MONDO:0002775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anovulation", "equivalent_identifiers": ["MONDO:0002775", "DOID:3781", "UMLS:C0003128", "MESH:D000858", "MEDDRA:10002658", "MEDDRA:10033311", "NCIT:C34388", "SNOMEDCT:34571000", "medgen:1951", "icd11.foundation:563648258"], "information_content": 95.4}
{"id": "MONDO:0003522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "male orgasm disorder", "equivalent_identifiers": ["MONDO:0003522", "DOID:5576", "UMLS:C0033949", "MEDDRA:10022033", "MEDDRA:10025513", "MEDDRA:10037227", "NCIT:C34959", "SNOMEDCT:81903006", "medgen:19560", "ICD10:F52.32"], "information_content": 100.0}
{"id": "MONDO:0003265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adjustment disorder", "equivalent_identifiers": ["MONDO:0003265", "DOID:507", "UMLS:C0001546", "UMLS:C0040701", "UMLS:C0543947", "UMLS:C1522512", "UMLS:C1522520", "MESH:D000275", "MEDDRA:10001082", "MEDDRA:10001295", "MEDDRA:10001301", "MEDDRA:10001303", "MEDDRA:10001313", "MEDDRA:10044402", "MEDDRA:10045617", "MEDDRA:10061621", "NCIT:C92191", "SNOMEDCT:17226007", "SNOMEDCT:192041001", "medgen:1338", "icd11.foundation:264310751", "ICD9:309"], "information_content": 100.0}
{"id": "MONDO:0000749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast abscess", "equivalent_identifiers": ["MONDO:0000749", "DOID:0060323", "UMLS:C0151463", "MEDDRA:10000275", "MEDDRA:10006171", "MEDDRA:10084506", "SNOMEDCT:28432003", "medgen:508760", "icd11.foundation:1033306788", "HP:0020225"], "information_content": 100.0}
{"id": "MONDO:0016052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical autism", "equivalent_identifiers": ["MONDO:0016052", "DOID:0060042", "orphanet:199627", "EFO:0003759", "UMLS:C0338986", "MEDDRA:10003747", "SNOMEDCT:231536004", "medgen:572882", "icd11.foundation:2136163538", "ICD10:F84"], "information_content": 100.0}
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{"id": "UniProtKB:P23526-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenosylhomocysteinase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P23526-1", "PR:P23526-1", "ENSEMBL:ENSP00000217426", "ENSEMBL:ENSP00000217426.2"], "information_content": 100.0}
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{"id": "MONDO:0008753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alkaptonuria", "equivalent_identifiers": ["MONDO:0008753", "DOID:9270", "OMIM:203500", "orphanet:56", "UMLS:C0002066", "UMLS:C2931645", "MESH:C537862", "MESH:D000474", "MEDDRA:10001689", "MEDDRA:10088000", "NCIT:C84546", "SNOMEDCT:360378009", "medgen:1413", "icd11.foundation:1761652827"], "information_content": 100.0}
{"id": "UniProtKB:Q9H490-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol glycan anchor biosynthesis class U protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H490-1", "PR:Q9H490-1", "ENSEMBL:ENSP00000217446", "ENSEMBL:ENSP00000217446.3"], "information_content": 100.0}
{"id": "MONDO:0032808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 77", "equivalent_identifiers": ["MONDO:0032808", "DOID:0112213", "OMIM:618548", "UMLS:C5231405", "medgen:1684735"], "information_content": 100.0}
{"id": "NCBIGene:10005", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACOT8", "equivalent_identifiers": ["NCBIGene:10005", "ENSEMBL:ENSG00000101473", "HGNC:15919", "OMIM:608123", "UMLS:C1825832", "UniProtKB:A0A494C0N6", "ENSEMBL:ENSP00000498636", "ENSEMBL:ENSP00000498636.1", "UniProtKB:E9PJN0", "ENSEMBL:ENSP00000435581", "ENSEMBL:ENSP00000435581.1", "UniProtKB:O14734", "PR:O14734", "ENSEMBL:ENSP00000217455", "ENSEMBL:ENSP00000217455.4", "UMLS:C0754594", "MESH:C106353"], "information_content": 100.0}
{"id": "MONDO:0000232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Flinders island spotted fever", "equivalent_identifiers": ["MONDO:0000232", "DOID:0050047", "UMLS:C4505102", "medgen:1375989"], "information_content": 100.0}
{"id": "UniProtKB:Q9HDC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adipocyte plasma membrane-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HDC9-1", "PR:Q9HDC9-1", "ENSEMBL:ENSP00000217456", "ENSEMBL:ENSP00000217456.2"], "information_content": 100.0}
{"id": "NCBIGene:9352", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TXNL1", "equivalent_identifiers": ["NCBIGene:9352", "ENSEMBL:ENSG00000091164", "HGNC:12436", "OMIM:603049", "UMLS:C1540138", "UniProtKB:O43396", "PR:O43396", "ENSEMBL:ENSP00000217515", "ENSEMBL:ENSP00000217515.5", "ENSEMBL:ENSP00000464918", "ENSEMBL:ENSP00000464918.1", "UMLS:C1454711", "MESH:C504766", "UniProtKB:V9HW51"], "information_content": 87.2}
{"id": "MONDO:0016472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dracunculiasis", "equivalent_identifiers": ["MONDO:0016472", "DOID:14418", "orphanet:231", "EFO:0007241", "UMLS:C0013100", "MESH:D004320", "MEDDRA:10013617", "MEDDRA:10013618", "MEDDRA:10091202", "NCIT:C84677", "SNOMEDCT:396334002", "medgen:41653", "icd11.foundation:1662537619", "ICD10:B72", "ICD9:125.7"], "information_content": 100.0}
{"id": "NCBIGene:54941", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF125", "equivalent_identifiers": ["NCBIGene:54941", "ENSEMBL:ENSG00000101695", "HGNC:21150", "OMIM:610432", "UMLS:C1427365", "UniProtKB:Q96EQ8", "PR:Q96EQ8", "ENSEMBL:ENSP00000217740", "ENSEMBL:ENSP00000217740.3", "UMLS:C2973521", "MESH:C551868"], "information_content": 95.4}
{"id": "MONDO:0014208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2R", "equivalent_identifiers": ["MONDO:0014208", "DOID:0110161", "OMIM:615490", "orphanet:397968", "UMLS:C3809655", "SNOMEDCT:774147002", "medgen:815985"], "information_content": 100.0}
{"id": "MONDO:0013753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2P", "equivalent_identifiers": ["MONDO:0013753", "DOID:0110169", "OMIM:614436", "orphanet:300319", "orphanet:99941", "UMLS:C1837805", "UMLS:C3280797", "SNOMEDCT:719511005", "SNOMEDCT:782826009", "medgen:482427"], "information_content": 100.0}
{"id": "UniProtKB:P51553-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P51553-1", "PR:P51553-1", "ENSEMBL:ENSP00000217901", "ENSEMBL:ENSP00000217901.5"], "information_content": 100.0}
{"id": "MONDO:0002359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periosteal chondroma", "equivalent_identifiers": ["MONDO:0002359", "DOID:2601", "UMLS:C0334548", "NCIT:C4302", "SNOMEDCT:1293244004", "SNOMEDCT:1293245003", "SNOMEDCT:9266000", "medgen:87260"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 25 member 43 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUT9-1", "PR:Q8WUT9-1", "ENSEMBL:ENSP00000217909", "ENSEMBL:ENSP00000217909.7"], "information_content": 100.0}
{"id": "MONDO:0009461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 5", "equivalent_identifiers": ["MONDO:0009461", "DOID:0070183", "OMIM:243060", "orphanet:137893", "UMLS:C0403812", "MESH:C562903", "SNOMEDCT:236806004", "medgen:98020"], "information_content": 100.0}
{"id": "MONDO:0012748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 7", "equivalent_identifiers": ["MONDO:0012748", "DOID:0110605", "OMIM:611884", "UMLS:C2678473", "UMLS:C4552030", "MESH:C567504", "medgen:394834"], "information_content": 100.0}
{"id": "NCBIGene:25878", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MXRA5", "equivalent_identifiers": ["NCBIGene:25878", "ENSEMBL:ENSG00000101825", "HGNC:7539", "OMIM:300938", "UMLS:C1417516", "UniProtKB:Q9NR99", "PR:Q9NR99", "ENSEMBL:ENSP00000217939", "ENSEMBL:ENSP00000217939.5", "UMLS:C3502319", "MESH:C575909"], "information_content": 80.9}
{"id": "UniProtKB:O75832-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome non-ATPase regulatory subunit 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75832-1", "PR:O75832-1", "ENSEMBL:ENSP00000217958", "ENSEMBL:ENSP00000217958.3"], "information_content": 100.0}
{"id": "NCBIGene:412", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STS", "equivalent_identifiers": ["NCBIGene:412", "ENSEMBL:ENSG00000101846", "HGNC:11425", "OMIM:300747", "UMLS:C1420490", "UniProtKB:A0A590UJL0", "ENSEMBL:ENSP00000217961", "ENSEMBL:ENSP00000217961.5", "ENSEMBL:ENSP00000499472", "ENSEMBL:ENSP00000499472.2", "ENSEMBL:ENSP00000501534", "ENSEMBL:ENSP00000501534.1", "UniProtKB:A6PYA4", "UniProtKB:P08842", "PR:P08842", "UMLS:C3710940", "MESH:C584039", "UniProtKB:Q0W975"]}
{"id": "MONDO:0002715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uterine cancer", "equivalent_identifiers": ["MONDO:0002715", "DOID:363", "UMLS:C0153567", "MESH:D014594", "MEDDRA:10026618", "MEDDRA:10046766", "MEDDRA:10046767", "NCIT:C3552", "SNOMEDCT:371973000", "medgen:57791", "ICD10:C55", "ICD9:179"], "information_content": 57.1}
{"id": "UniProtKB:O00264-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-associated progesterone receptor component 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00264-1", "PR:O00264-1", "ENSEMBL:ENSP00000217971", "ENSEMBL:ENSP00000217971.7"], "information_content": 100.0}
{"id": "MONDO:0009299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46 XX gonadal dysgenesis", "equivalent_identifiers": ["MONDO:0009299", "DOID:14450", "OMIM.PS:233300", "orphanet:243", "UMLS:C0685837", "MESH:D023961", "NCIT:C120197", "SNOMEDCT:95198001", "medgen:146899", "icd11.foundation:1742528605"], "information_content": 83.6}
{"id": "MONDO:0001119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature menopause", "equivalent_identifiers": ["MONDO:0001119", "DOID:10787", "EFO:0009005", "UMLS:C0025322", "MESH:D008594", "MEDDRA:10014045", "MEDDRA:10027312", "MEDDRA:10036601", "MEDDRA:10066271", "NCIT:C80099", "SNOMEDCT:237788002", "SNOMEDCT:373717006", "medgen:9963", "ICD10:E28.31", "ICD9:256.31", "HP:0008209"], "information_content": 95.4}
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{"id": "MONDO:0001443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tympanosclerosis", "equivalent_identifiers": ["MONDO:0001443", "DOID:1214", "EFO:1001812", "UMLS:C0155477", "UMLS:C0395887", "UMLS:C3494473", "MESH:D000092163", "MESH:D063371", "MEDDRA:10045218", "MEDDRA:10087692", "SNOMEDCT:23606001", "medgen:473094", "icd11.foundation:28175464", "ICD9:385.09", "HP:0020123"], "information_content": 100.0}
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{"id": "MONDO:0019696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromesomelic dysplasia", "equivalent_identifiers": ["MONDO:0019696", "DOID:0080049", "OMIM.PS:602875", "orphanet:93437", "UMLS:C5235036", "MESH:C535658", "MEDDRA:10083866", "SNOMEDCT:279082008", "medgen:1710812", "icd11.foundation:2002361676"], "information_content": 85.5}
{"id": "UniProtKB:Q9UN42-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ATP1B4 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9UN42-1", "PR:Q9UN42-1", "ENSEMBL:ENSP00000218008", "ENSEMBL:ENSP00000218008.3"], "information_content": 100.0}
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{"id": "UniProtKB:P23416-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycine receptor subunit alpha-2 isoform Alpha-2* (human)", "equivalent_identifiers": ["UniProtKB:P23416-1", "PR:P23416-1", "ENSEMBL:ENSP00000218075", "ENSEMBL:ENSP00000218075.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N3U4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cohesin subunit SA-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3U4-2", "PR:Q8N3U4-2", "ENSEMBL:ENSP00000218089", "ENSEMBL:ENSP00000218089.9", "ENSEMBL:ENSP00000360187", "ENSEMBL:ENSP00000360187.4", "ENSEMBL:ENSP00000509048", "ENSEMBL:ENSP00000509048.1"], "information_content": 100.0}
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{"id": "MONDO:0018068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trisomy 13", "equivalent_identifiers": ["MONDO:0018068", "DOID:11665", "orphanet:3378", "UMLS:C0152095", "UMLS:C4319808", "MESH:C536305", "MESH:D000073839", "MEDDRA:10034115", "MEDDRA:10044686", "NCIT:C101223", "SNOMEDCT:21111006", "medgen:56261", "icd11.foundation:1435958084", "ICD10:Q91.7", "ICD9:758.1"], "information_content": 92.8}
{"id": "UniProtKB:P00740-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coagulation factor IX isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P00740-1", "PR:P00740-1", "ENSEMBL:ENSP00000218099", "ENSEMBL:ENSP00000218099.2"], "information_content": 100.0}
{"id": "MONDO:0010602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemophilia A", "equivalent_identifiers": ["MONDO:0010602", "DOID:12134", "OMIM:134500", "OMIM:306700", "orphanet:98878", "UMLS:C0019069", "UMLS:C3494187", "UMLS:C4025649", "MESH:D006467", "MEDDRA:10010468", "MEDDRA:10016080", "MEDDRA:10018937", "MEDDRA:10018938", "MEDDRA:10060612", "MEDDRA:10060613", "NCIT:C27146", "SNOMEDCT:234440005", "SNOMEDCT:28293008", "medgen:5501", "icd11.foundation:337607970", "ICD10:D66", "ICD9:286.0", "HP:0003125"], "information_content": 84.8}
{"id": "MONDO:0009212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital factor X deficiency", "equivalent_identifiers": ["MONDO:0009212", "DOID:2222", "OMIM:227600", "orphanet:328", "UMLS:C0272327", "NCIT:C98940", "SNOMEDCT:37350004", "medgen:543976", "icd11.foundation:1886781445"], "information_content": 100.0}
{"id": "MONDO:0009210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital factor V deficiency", "equivalent_identifiers": ["MONDO:0009210", "DOID:2216", "OMIM:227400", "orphanet:326", "UMLS:C0015499", "NCIT:C98938", "SNOMEDCT:88776002", "medgen:4633"], "information_content": 100.0}
{"id": "MONDO:0007222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type D", "equivalent_identifiers": ["MONDO:0007222", "DOID:0110971", "OMIM:113200", "UMLS:C0220664", "MESH:C562420", "SNOMEDCT:890439005", "medgen:66313", "icd11.foundation:642882691", "HP:0005627"], "information_content": 100.0}
{"id": "MONDO:0004001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "compartment syndrome", "equivalent_identifiers": ["MONDO:0004001", "DOID:682", "UMLS:C0009492", "MESH:D003161", "MEDDRA:10010121", "NCIT:C118422", "SNOMEDCT:111245009", "medgen:40417", "ICD10:T79.A0", "ICD9:958.90"], "information_content": 92.8}
{"id": "MONDO:0020460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired von willebrand syndrome", "equivalent_identifiers": ["MONDO:0020460", "DOID:0111146", "orphanet:99147", "UMLS:C0272362", "MEDDRA:10069495", "SNOMEDCT:234451005", "medgen:543999", "ICD10:D68.04"], "information_content": 100.0}
{"id": "MONDO:0007390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coumarin resistance", "equivalent_identifiers": ["MONDO:0007390", "DOID:0080665", "DOID:0080666", "OMIM:122700", "OMIM:122720", "UMLS:C0750384", "UMLS:C1852514", "UMLS:C1852516", "UMLS:C2608079", "UMLS:C2675747", "UMLS:C4017430", "UMLS:C4017431", "UMLS:C4017432", "UMLS:C4017433", "UMLS:C4017434", "UMLS:C4017435", "UMLS:C4017436", "MESH:C563039", "MESH:C567080", "MESH:C567276", "SNOMEDCT:726543008", "medgen:148193"], "information_content": 100.0}
{"id": "NCBIGene:215", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABCD1", "equivalent_identifiers": ["NCBIGene:215", "ENSEMBL:ENSG00000101986", "HGNC:61", "OMIM:300371", "UMLS:C1412084", "UniProtKB:P33897", "PR:P33897", "ENSEMBL:ENSP00000218104", "ENSEMBL:ENSP00000218104.3", "UMLS:C0759781", "UMLS:C3840421", "MESH:C115572", "MESH:D000074063"], "information_content": 87.2}
{"id": "MONDO:0030514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy", "equivalent_identifiers": ["MONDO:0030514", "DOID:0070397", "OMIM:619688", "UMLS:C5562074", "medgen:1794284"], "information_content": 100.0}
{"id": "MONDO:0859242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 24", "equivalent_identifiers": ["MONDO:0859242", "DOID:0070406", "OMIM:619851", "UMLS:C5676974", "medgen:1805365"], "information_content": 100.0}
{"id": "MONDO:0030263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 21", "equivalent_identifiers": ["MONDO:0030263", "DOID:0070407", "OMIM:619310", "UMLS:C5543334", "medgen:1778269"], "information_content": 100.0}
{"id": "MONDO:0025701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 22", "equivalent_identifiers": ["MONDO:0025701", "DOID:0070402", "OMIM:619328", "UMLS:C5543406", "NCIT:C201587", "medgen:1787833"], "information_content": 100.0}
{"id": "MONDO:0032730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 18", "equivalent_identifiers": ["MONDO:0032730", "DOID:0070399", "OMIM:618404", "UMLS:C5193078", "medgen:1680067"], "information_content": 100.0}
{"id": "MONDO:0032871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 19, transient infantile", "equivalent_identifiers": ["MONDO:0032871", "DOID:0070400", "OMIM:618688", "UMLS:C5231463", "medgen:1684698"], "information_content": 100.0}
{"id": "MONDO:0054791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 16", "equivalent_identifiers": ["MONDO:0054791", "DOID:0070405", "OMIM:617964", "UMLS:C4693779", "medgen:1631337"], "information_content": 100.0}
{"id": "MONDO:0014813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 13", "equivalent_identifiers": ["MONDO:0014813", "DOID:0060795", "OMIM:616881", "UMLS:C4225170", "medgen:896545"], "information_content": 100.0}
{"id": "MONDO:0033657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 20", "equivalent_identifiers": ["MONDO:0033657", "DOID:0112153", "OMIM:619071", "UMLS:C5436730", "medgen:1765130"], "information_content": 100.0}
{"id": "MONDO:0054817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 17", "equivalent_identifiers": ["MONDO:0054817", "DOID:0070404", "OMIM:618006", "UMLS:C4693912", "medgen:1644557"], "information_content": 100.0}
{"id": "MONDO:0054782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 15", "equivalent_identifiers": ["MONDO:0054782", "DOID:0070398", "OMIM:617951", "UMLS:C4693733", "medgen:1633653"], "information_content": 100.0}
{"id": "MONDO:0014732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 12", "equivalent_identifiers": ["MONDO:0014732", "DOID:0060796", "OMIM:616683", "orphanet:466934", "UMLS:C4225247", "medgen:905068"], "information_content": 100.0}
{"id": "MONDO:0008752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alexander disease", "equivalent_identifiers": ["MONDO:0008752", "DOID:4252", "OMIM:203450", "orphanet:58", "UMLS:C0270726", "MESH:D038261", "MEDDRA:10083059", "NCIT:C84545", "SNOMEDCT:81854007", "medgen:78724", "icd11.foundation:2023359698"], "information_content": 92.8}
{"id": "MONDO:0012514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 5", "equivalent_identifiers": ["MONDO:0012514", "DOID:0060793", "OMIM:610532", "orphanet:85163", "UMLS:C1864663", "MESH:C567166", "SNOMEDCT:702379005", "medgen:501134", "ICD10:G37.8"], "information_content": 100.0}
{"id": "MONDO:0014666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 11", "equivalent_identifiers": ["MONDO:0014666", "DOID:0060792", "OMIM:616494", "UMLS:C4225305", "medgen:897960", "ICD10:G11.1"], "information_content": 100.0}
{"id": "MONDO:0014506", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 9", "equivalent_identifiers": ["MONDO:0014506", "DOID:0060791", "OMIM:616140", "orphanet:438114", "UMLS:C4015323", "SNOMEDCT:1220600004", "medgen:863760"], "information_content": 100.0}
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{"id": "MONDO:0014632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 10", "equivalent_identifiers": ["MONDO:0014632", "DOID:0060788", "OMIM:616420", "UMLS:C4225332", "SNOMEDCT:1237421000", "medgen:904191"], "information_content": 100.0}
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{"id": "MONDO:0019586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked nonsyndromic hearing loss", "equivalent_identifiers": ["MONDO:0019586", "DOID:0050566", "orphanet:90625", "UMLS:C5680192", "medgen:1825990"], "information_content": 87.2}
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{"id": "NCBIGene:6102", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RP2", "equivalent_identifiers": ["NCBIGene:6102", "ENSEMBL:ENSG00000102218", "HGNC:10274", "OMIM:300757", "UMLS:C1419608", "UniProtKB:A0A1B2JLU2", "UMLS:C0913113", "MESH:C072178", "UniProtKB:O75695", "PR:O75695", "ENSEMBL:ENSP00000218340", "ENSEMBL:ENSP00000218340.3", "UMLS:C2698904"], "information_content": 95.4}
{"id": "UniProtKB:P51784", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UBP11_HUMAN Ubiquitin carboxyl-terminal hydrolase 11 (sprot)", "equivalent_identifiers": ["UniProtKB:P51784", "PR:P51784", "ENSEMBL:ENSP00000218348", "ENSEMBL:ENSP00000218348.3"], "information_content": 89.4}
{"id": "DOID:0111264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ruijs-Aalfs syndrome", "equivalent_identifiers": ["DOID:0111264"]}
{"id": "NCBIGene:7076", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMP1", "equivalent_identifiers": ["NCBIGene:7076", "ENSEMBL:ENSG00000102265", "HGNC:11820", "OMIM:305370", "UMLS:C1367459", "UniProtKB:P01033", "PR:P01033", "ENSEMBL:ENSP00000218388", "ENSEMBL:ENSP00000218388.4", "UMLS:C1522552", "MESH:C560822", "UniProtKB:Q6FGX5"], "information_content": 74.3}
{"id": "MONDO:0002507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gingival overgrowth", "equivalent_identifiers": ["MONDO:0002507", "DOID:3086", "UMLS:C0017566", "UMLS:C0376480", "UMLS:C4476522", "MESH:D005885", "MESH:D019214", "MEDDRA:10018283", "MEDDRA:10018780", "MEDDRA:10020725", "SNOMEDCT:441787004", "SNOMEDCT:441798003", "SNOMEDCT:54711002", "medgen:87712", "ICD10:K06.1", "HP:0000212"], "information_content": 83.6}
{"id": "MONDO:0018166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oral submucous fibrosis", "equivalent_identifiers": ["MONDO:0018166", "DOID:5773", "orphanet:357154", "EFO:1001818", "UMLS:C0029171", "UMLS:C0029172", "MESH:D009914", "MEDDRA:10031023", "MEDDRA:10031025", "MEDDRA:10056775", "NCIT:C34866", "SNOMEDCT:32883009", "medgen:45213", "icd11.foundation:1798376929", "ICD10:K13.5", "ICD9:528.8"], "information_content": 100.0}
{"id": "MONDO:0015254", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schistosomiasis", "equivalent_identifiers": ["MONDO:0015254", "DOID:1395", "orphanet:1247", "EFO:1001475", "UMLS:C0029827", "UMLS:C0036323", "MESH:D012552", "MEDDRA:10039603", "MEDDRA:10039604", "MEDDRA:10046149", "NCIT:C35000", "SNOMEDCT:10087007", "SNOMEDCT:105661001", "medgen:48573", "icd11.foundation:1194562592", "ICD9:120.8"], "information_content": 84.2}
{"id": "MONDO:0000945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "venous insufficiency", "equivalent_identifiers": ["MONDO:0000945", "DOID:10128", "UMLS:C0042485", "MESH:D014689", "MEDDRA:10047220", "MEDDRA:10057320", "MEDDRA:10075056", "NCIT:C127822", "SNOMEDCT:20696009", "medgen:21841", "ICD9:459.81", "HP:0005293"], "information_content": 82.1}
{"id": "MONDO:0100450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CAPN5-related vitreoretinopathy", "equivalent_identifiers": ["MONDO:0100450", "DOID:9719", "OMIM:193235", "orphanet:329211", "UMLS:C4721549", "SNOMEDCT:770791000", "medgen:1648542"], "information_content": 100.0}
{"id": "MONDO:0007947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marfan syndrome", "equivalent_identifiers": ["MONDO:0007947", "DOID:14323", "OMIM:154700", "orphanet:284963", "orphanet:558", "UMLS:C0024796", "UMLS:C4721845", "MESH:D008382", "MEDDRA:10026829", "NCIT:C34807", "SNOMEDCT:1003407000", "SNOMEDCT:19346006", "medgen:44287", "icd11.foundation:236564145", "ICD10:Q87.4", "ICD9:759.82"], "information_content": 95.4}
{"id": "MONDO:0002931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conjunctivochalasis", "equivalent_identifiers": ["MONDO:0002931", "DOID:4250", "UMLS:C0878693", "UMLS:C1578851", "MEDDRA:10064132", "SNOMEDCT:408663001", "medgen:678824", "icd11.foundation:870876723", "ICD10:H11.82", "ICD9:372.81"], "information_content": 100.0}
{"id": "NCBIGene:347365", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITIH6", "equivalent_identifiers": ["NCBIGene:347365", "ENSEMBL:ENSG00000102313", "HGNC:28907", "UMLS:C3470521", "UniProtKB:Q6UXX5", "PR:Q6UXX5", "ENSEMBL:ENSP00000218436", "ENSEMBL:ENSP00000218436.6"], "information_content": 100.0}
{"id": "MONDO:0013770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 9", "equivalent_identifiers": ["MONDO:0013770", "DOID:0110114", "OMIM:614475", "UMLS:C3280943", "medgen:482573"], "information_content": 100.0}
{"id": "NCBIGene:2717", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLA", "equivalent_identifiers": ["NCBIGene:2717", "ENSEMBL:ENSG00000102393", "HGNC:4296", "OMIM:300644", "UMLS:C1439334", "UniProtKB:A0A3B3IUC4", "ENSEMBL:ENSP00000498186", "ENSEMBL:ENSP00000498186.1", "UniProtKB:A0A6Q8PHD1", "ENSEMBL:ENSP00000502629", "ENSEMBL:ENSP00000502629.2", "UniProtKB:P06280", "PR:P06280", "ENSEMBL:ENSP00000218516", "ENSEMBL:ENSP00000218516.4", "UMLS:C3501221", "MESH:C576330", "UniProtKB:Q53Y83"], "information_content": 89.4}
{"id": "MONDO:0017720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GM2 gangliosidosis", "equivalent_identifiers": ["MONDO:0017720", "DOID:3321", "orphanet:309152", "UMLS:C0268274", "MESH:D020143", "MEDDRA:10083933", "NCIT:C197908", "SNOMEDCT:33316007", "medgen:78656", "icd11.foundation:1513691830", "ICD10:E75.0"], "information_content": 84.2}
{"id": "MONDO:0017779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-N-acetylgalactosaminidase deficiency", "equivalent_identifiers": ["MONDO:0017779", "DOID:0112317", "orphanet:3137", "UMLS:C5848084", "SNOMEDCT:238048001", "medgen:1845666", "icd11.foundation:1647881428"], "information_content": 90.9}
{"id": "MONDO:0008830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aspartylglucosaminuria", "equivalent_identifiers": ["MONDO:0008830", "DOID:0050461", "OMIM:208400", "orphanet:93", "UMLS:C0268225", "UMLS:C2931840", "MESH:C538402", "MESH:D054880", "MEDDRA:10068220", "NCIT:C61273", "SNOMEDCT:54954004", "medgen:78649", "icd11.foundation:2143470200", "ICD10:E77.1", "HP:0012068"], "information_content": 100.0}
{"id": "MONDO:0008641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations", "equivalent_identifiers": ["MONDO:0008641", "DOID:0111567", "OMIM:192315", "orphanet:247691", "UMLS:C1860518", "MESH:C566007", "SNOMEDCT:720854004", "SNOMEDCT:783787000", "medgen:348124", "icd11.foundation:554838792"], "information_content": 100.0}
{"id": "MONDO:0008289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain small vessel disease 1 with or without ocular anomalies", "equivalent_identifiers": ["MONDO:0008289", "DOID:0090125", "OMIM:175780", "orphanet:36383", "UMLS:C2930808", "UMLS:C4551998", "MESH:C531642", "MESH:C564372", "medgen:1647320"], "information_content": 100.0}
{"id": "UniProtKB:P54707-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium-transporting ATPase alpha chain 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P54707-2", "PR:P54707-2", "ENSEMBL:ENSP00000218548", "ENSEMBL:ENSP00000218548.6"], "information_content": 100.0}
{"id": "MONDO:0004242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "active peptic ulcer disease", "equivalent_identifiers": ["MONDO:0004242", "DOID:749"], "information_content": 100.0}
{"id": "MONDO:0013662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Barrett esophagus", "equivalent_identifiers": ["MONDO:0013662", "DOID:9206", "OMIM:614266", "EFO:0000280", "UMLS:C0004763", "UMLS:C2741633", "MESH:D001471", "MEDDRA:10004134", "MEDDRA:10004135", "MEDDRA:10004137", "MEDDRA:10053999", "MEDDRA:10056095", "MEDDRA:10072776", "NCIT:C2891", "SNOMEDCT:196609006", "SNOMEDCT:302914006", "medgen:2551", "ICD10:K22.7", "ICD9:530.85", "HP:0100580"], "information_content": 87.2}
{"id": "MONDO:0004729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyskinesia of esophagus", "equivalent_identifiers": ["MONDO:0004729", "DOID:9192", "EFO:1001785", "UMLS:C0014858", "UMLS:C0014863", "UMLS:C0859977", "UMLS:C1442913", "UMLS:C1442915", "UMLS:C1442916", "MESH:D015154", "MESH:D015155", "MEDDRA:10013924", "MEDDRA:10013925", "MEDDRA:10013926", "MEDDRA:10015390", "MEDDRA:10015469", "MEDDRA:10030184", "MEDDRA:10030225", "MEDDRA:10041383", "MEDDRA:10042751", "MEDDRA:10055456", "MEDDRA:10056087", "MEDDRA:10056089", "MEDDRA:10072419", "MEDDRA:10072420", "MEDDRA:10085601", "MEDDRA:10085602", "SNOMEDCT:266434009", "SNOMEDCT:79962008", "medgen:41868", "ICD10:K22.4", "ICD9:530.5", "HP:0025271"], "information_content": 100.0}
{"id": "MONDO:0002647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngitis", "equivalent_identifiers": ["MONDO:0002647", "DOID:3437", "UMLS:C0023067", "MESH:D007827", "MEDDRA:10023874", "MEDDRA:10023879", "MEDDRA:10065735", "NCIT:C26811", "SNOMEDCT:45913009", "medgen:7273"], "information_content": 86.3}
{"id": "MONDO:0004260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peptic ulcer perforation", "equivalent_identifiers": ["MONDO:0004260", "DOID:752", "EFO:1001389", "UMLS:C0030925", "UMLS:C0267291", "MESH:D010439", "MEDDRA:10000989", "MEDDRA:10034353", "MEDDRA:10034354", "MEDDRA:10034371", "MEDDRA:10034396", "MEDDRA:10045332", "NCIT:C196815", "SNOMEDCT:79118000", "SNOMEDCT:88169003", "medgen:45385"], "information_content": 100.0}
{"id": "MONDO:0006677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bile reflux", "equivalent_identifiers": ["MONDO:0006677", "DOID:12237", "EFO:1000838", "UMLS:C0005403", "MESH:D001655", "medgen:2243"], "information_content": 100.0}
{"id": "MONDO:0002105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toxic megacolon", "equivalent_identifiers": ["MONDO:0002105", "DOID:1770", "UMLS:C0025162", "MESH:D008532", "MEDDRA:10027115", "MEDDRA:10044144", "SNOMEDCT:1269214001", "SNOMEDCT:28536002", "medgen:9940", "icd11.foundation:1497870078", "ICD10:K59.31"], "information_content": 100.0}
{"id": "MONDO:0002322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiodysplasia", "equivalent_identifiers": ["MONDO:0002322", "DOID:2494", "UMLS:C0085411", "UMLS:C0267370", "MESH:D016888", "MEDDRA:10051846", "MEDDRA:10061636", "MEDDRA:10073397", "MEDDRA:10084094", "MEDDRA:10088396", "SNOMEDCT:1290553006", "SNOMEDCT:1295237006", "SNOMEDCT:90858003", "medgen:88403"], "information_content": 92.8}
{"id": "MONDO:0001427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dieulafoy lesion", "equivalent_identifiers": ["MONDO:0001427", "DOID:12070", "UMLS:C0341217", "UMLS:C1135229", "SNOMEDCT:109558001", "medgen:574250", "ICD10:K31.82", "ICD9:537.84"], "information_content": 100.0}
{"id": "MONDO:0004628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastroduodenitis", "equivalent_identifiers": ["MONDO:0004628", "DOID:8644", "UMLS:C0029800", "UMLS:C0267166", "MEDDRA:10048714", "SNOMEDCT:196731005", "medgen:540445", "ICD9:535.4"], "information_content": 100.0}
{"id": "MONDO:0001044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal atresia", "equivalent_identifiers": ["MONDO:0001044", "DOID:10485", "UMLS:C0014850", "MESH:D004933", "MEDDRA:10003651", "MEDDRA:10003652", "MEDDRA:10015471", "MEDDRA:10021530", "MEDDRA:10030146", "MEDDRA:10055460", "MEDDRA:10055495", "MEDDRA:10056097", "MEDDRA:10072767", "MEDDRA:10072768", "NCIT:C87072", "SNOMEDCT:26179002", "medgen:4545", "ICD10:Q39.0", "HP:0002032"], "information_content": 92.8}
{"id": "MONDO:0006735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenogastric reflux", "equivalent_identifiers": ["MONDO:0006735", "DOID:4071", "EFO:1000909", "UMLS:C0013299", "MESH:D004383", "MEDDRA:10060865", "SNOMEDCT:9733003", "medgen:4420"], "information_content": 100.0}
{"id": "MONDO:0002688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenal obstruction", "equivalent_identifiers": ["MONDO:0002688", "DOID:3558", "EFO:1000908", "UMLS:C0013292", "MESH:D004380", "MEDDRA:10013830", "MEDDRA:10029955", "NCIT:C79548", "SNOMEDCT:95532008", "medgen:4417"], "information_content": 90.9}
{"id": "MONDO:0001272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "functional diarrhea", "equivalent_identifiers": ["MONDO:0001272", "DOID:11371", "UMLS:C0156173", "MEDDRA:10017495", "MEDDRA:10017496", "SNOMEDCT:47812002", "medgen:510199", "ICD10:K59.1", "ICD9:564.5"], "information_content": 100.0}
{"id": "MONDO:0001155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marginal ulcer", "equivalent_identifiers": ["MONDO:0001155", "DOID:10927", "UMLS:C0024799", "UMLS:C0156042", "UMLS:C0392502", "UMLS:C1384631", "MEDDRA:10000773", "MEDDRA:10000775", "MEDDRA:10008884", "MEDDRA:10008885", "MEDDRA:10017881", "MEDDRA:10018035", "MEDDRA:10018036", "MEDDRA:10042127", "MEDDRA:10045307", "MEDDRA:10055259", "NCIT:C196823", "NCIT:C196830", "NCIT:C79766", "SNOMEDCT:16121001", "SNOMEDCT:4269005", "SNOMEDCT:63954007", "medgen:730503", "icd11.foundation:491213123", "ICD10:K28.0", "ICD9:534.0"], "information_content": 100.0}
{"id": "MONDO:0005673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blind loop syndrome", "equivalent_identifiers": ["MONDO:0005673", "DOID:10606", "EFO:0007175", "UMLS:C0005750", "MESH:D001765", "MEDDRA:10005166", "MEDDRA:10041904", "MEDDRA:10041956", "NCIT:C34431", "SNOMEDCT:66379009", "SNOMEDCT:77225009", "medgen:600", "icd11.foundation:1719064637", "ICD10:K90.2", "ICD9:579.2"], "information_content": 100.0}
{"id": "MONDO:0002569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric dilatation", "equivalent_identifiers": ["MONDO:0002569", "DOID:3229", "UMLS:C0038353", "MESH:D013271", "MEDDRA:10013005", "MEDDRA:10013008", "MEDDRA:10013015", "MEDDRA:10017779", "MEDDRA:10042100", "MEDDRA:10069737", "medgen:11602"], "information_content": 100.0}
{"id": "MONDO:0000858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal intestinal dysplasia", "equivalent_identifiers": ["MONDO:0000858", "DOID:0080072", "UMLS:C0345244", "MEDDRA:10073659", "SNOMEDCT:253783001", "medgen:576840"], "information_content": 92.8}
{"id": "DOID:6225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cronkhite-Canada syndrome", "equivalent_identifiers": ["DOID:6225", "UMLS:C1333764", "NCIT:C7035"], "information_content": 100.0}
{"id": "MONDO:0019804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tracheomalacia", "equivalent_identifiers": ["MONDO:0019804", "DOID:0060313", "orphanet:95430", "UMLS:C0392109", "UMLS:C0948187", "MESH:C557675", "MESH:D055090", "MEDDRA:10010654", "MEDDRA:10056397", "NCIT:C98634", "SNOMEDCT:95434006", "SNOMEDCT:95467005", "medgen:140261", "icd11.foundation:1616705280", "icd11.foundation:303133490", "ICD10:Q32.0", "HP:0002779"], "information_content": 89.4}
{"id": "MONDO:0004622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic intestinal vascular insufficiency", "equivalent_identifiers": ["MONDO:0004622", "DOID:8633", "UMLS:C0311262", "MEDDRA:10009161", "SNOMEDCT:111354009", "medgen:90228", "ICD9:557.1"], "information_content": 100.0}
{"id": "MONDO:0004914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "celiac artery stenosis from compression by median arcuate ligament of diaphragm", "equivalent_identifiers": ["MONDO:0004914", "DOID:9892", "OMIM:116870", "UMLS:C0152098", "UMLS:C1861783", "UMLS:C4020693", "MESH:D000074742", "MEDDRA:10007863", "MEDDRA:10009838", "MEDDRA:10083407", "NCIT:C197856", "SNOMEDCT:9250002", "medgen:349361", "ICD10:I77.4", "ICD9:447.4", "HP:0012327"], "information_content": 100.0}
{"id": "MONDO:0007878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngomalacia", "equivalent_identifiers": ["MONDO:0007878", "DOID:0080833", "OMIM:150280", "orphanet:2373", "UMLS:C0264303", "UMLS:C0345160", "MESH:D055092", "MEDDRA:10060786", "NCIT:C98971", "SNOMEDCT:253737007", "SNOMEDCT:38086007", "medgen:120500", "icd11.foundation:64182721", "ICD10:Q31.5", "HP:0001601"], "information_content": 100.0}
{"id": "MONDO:0001656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megaesophagus", "equivalent_identifiers": ["MONDO:0001656", "DOID:13186", "UMLS:C0025164", "MEDDRA:10052061", "MEDDRA:10056100", "NCIT:C34811", "SNOMEDCT:70667005", "medgen:6286"], "information_content": 100.0}
{"id": "MONDO:0001428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pylorospasm", "equivalent_identifiers": ["MONDO:0001428", "DOID:12072", "UMLS:C0152163", "MEDDRA:10037628", "MEDDRA:10041401", "SNOMEDCT:335002", "medgen:508908", "ICD9:537.81"], "information_content": 100.0}
{"id": "MONDO:0006912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pneumatosis cystoides intestinalis", "equivalent_identifiers": ["MONDO:0006912", "DOID:13249", "EFO:1001113", "UMLS:C0032266", "MESH:D011006", "MEDDRA:10049732", "MEDDRA:10070461", "SNOMEDCT:117631000119103", "SNOMEDCT:17465007", "medgen:18527"], "information_content": 100.0}
{"id": "MONDO:0008586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal atresia/tracheoesophageal fistula", "equivalent_identifiers": ["MONDO:0008586", "DOID:0080171", "OMIM:189960", "orphanet:1199", "UMLS:C0040588", "UMLS:C1861028", "UMLS:C4732737", "MESH:C531835", "MESH:D014138", "MEDDRA:10044310", "MEDDRA:10044311", "MEDDRA:10044317", "MEDDRA:10072784", "SNOMEDCT:95435007", "medgen:21228", "icd11.foundation:1582061097", "HP:0002575"], "information_content": 95.4}
{"id": "MONDO:0013433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary sclerosing cholangitis", "equivalent_identifiers": ["MONDO:0013433", "DOID:0060643", "OMIM:613806", "orphanet:171", "UMLS:C0566602", "MEDDRA:10036732", "SNOMEDCT:197441003", "medgen:107565", "icd11.foundation:857962451", "ICD10:K83.01"], "information_content": 95.4}
{"id": "MONDO:0001930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute cholangitis", "equivalent_identifiers": ["MONDO:0001930", "DOID:14271", "UMLS:C0267917", "MEDDRA:10008605", "MEDDRA:10008606", "NCIT:C35334", "SNOMEDCT:6215006", "medgen:82764"], "information_content": 95.4}
{"id": "MONDO:0004880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bowel dysfunction", "equivalent_identifiers": ["MONDO:0004880", "DOID:9779", "UMLS:C0016807", "UMLS:C2004461", "MEDDRA:10006051", "MEDDRA:10022650", "MEDDRA:10061247", "SNOMEDCT:235594008", "SNOMEDCT:81120009", "medgen:384468", "ICD10:K59.9", "ICD9:564.9"], "information_content": 79.9}
{"id": "MONDO:0002325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth erosion", "equivalent_identifiers": ["MONDO:0002325", "DOID:2498", "UMLS:C0040436", "MESH:D014077", "MEDDRA:10015130", "MEDDRA:10044038", "SNOMEDCT:82212003", "medgen:21584", "ICD10:K03.2", "ICD9:521.3"], "information_content": 92.8}
{"id": "MONDO:0007020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wernicke encephalopathy", "equivalent_identifiers": ["MONDO:0007020", "DOID:2384", "EFO:1001241", "UMLS:C0043121", "MESH:D014899", "MEDDRA:10047911", "MEDDRA:10047912", "SNOMEDCT:21007002", "medgen:53073", "icd11.foundation:1360335041", "ICD10:E51.2"], "information_content": 100.0}
{"id": "MONDO:0001078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tropical sprue", "equivalent_identifiers": ["MONDO:0001078", "DOID:10607", "UMLS:C0038054", "MESH:D013182", "MEDDRA:10044697", "NCIT:C45428", "SNOMEDCT:47384003", "medgen:21300", "icd11.foundation:316377284", "ICD10:K90.1", "ICD9:579.1"], "information_content": 100.0}
{"id": "MONDO:0001045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal atresia", "equivalent_identifiers": ["MONDO:0001045", "DOID:10486", "UMLS:C0021828", "MESH:D007409", "MEDDRA:10050083", "MEDDRA:10062022", "NCIT:C84790", "medgen:7129", "ICD10:Q41.1", "HP:0011100"], "information_content": 83.6}
{"id": "UniProtKB:O43193-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "motilin receptor isoform A (human)", "equivalent_identifiers": ["UniProtKB:O43193-1", "PR:O43193-1", "ENSEMBL:ENSP00000218721", "ENSEMBL:ENSP00000218721.1"], "information_content": 100.0}
{"id": "MONDO:0002801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colonic pseudo-obstruction", "equivalent_identifiers": ["MONDO:0002801", "DOID:3876", "EFO:1000871", "UMLS:C0009377", "UMLS:C1527395", "MESH:D003112", "MEDDRA:10052447", "MEDDRA:10052504", "MEDDRA:10057078", "SNOMEDCT:35065006", "SNOMEDCT:721680006", "medgen:3167"], "information_content": 100.0}
{"id": "NCBIGene:54", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACP5", "equivalent_identifiers": ["NCBIGene:54", "ENSEMBL:ENSG00000102575", "HGNC:124", "OMIM:171640", "UMLS:C1412133", "UniProtKB:P13686", "PR:P13686", "ENSEMBL:ENSP00000218758", "ENSEMBL:ENSP00000218758.4", "ENSEMBL:ENSP00000392374", "ENSEMBL:ENSP00000392374.1", "ENSEMBL:ENSP00000464831", "ENSEMBL:ENSP00000464831.2", "ENSEMBL:ENSP00000465127", "ENSEMBL:ENSP00000465127.2", "ENSEMBL:ENSP00000465498", "ENSEMBL:ENSP00000465498.2", "ENSEMBL:ENSP00000468685", "ENSEMBL:ENSP00000468685.2", "ENSEMBL:ENSP00000468767", "ENSEMBL:ENSP00000468767.3", "ENSEMBL:ENSP00000496973", "ENSEMBL:ENSP00000496973.1", "ENSEMBL:ENSP00000497140", "ENSEMBL:ENSP00000497140.2", "ENSEMBL:ENSP00000512173", "ENSEMBL:ENSP00000512173.1", "ENSEMBL:ENSP00000512191", "ENSEMBL:ENSP00000512191.1", "UMLS:C1566918", "UMLS:C3274595", "MESH:C000605510"], "information_content": 92.8}
{"id": "MONDO:0001997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "root resorption", "equivalent_identifiers": ["MONDO:0001997", "DOID:14550", "UMLS:C0035851", "MESH:D012391", "medgen:11268"], "information_content": 100.0}
{"id": "MONDO:0005674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone giant cell tumor", "equivalent_identifiers": ["MONDO:0005674", "DOID:4305", "orphanet:363976", "EFO:0007176", "UMLS:C0206638", "MESH:D018212", "MEDDRA:10004239", "MEDDRA:10005968", "MEDDRA:10005969", "MEDDRA:10005970", "MEDDRA:10062381", "MEDDRA:10062385", "MEDDRA:10088487", "NCIT:C121932", "SNOMEDCT:57500000", "SNOMEDCT:697970009", "medgen:64624", "HP:0011847"], "information_content": 90.9}
{"id": "MONDO:0000845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrous dysplasia", "equivalent_identifiers": ["MONDO:0000845", "DOID:0080031", "orphanet:249", "UMLS:C0016063", "UMLS:C0259779", "MESH:D005357", "MEDDRA:10016664", "NCIT:C34609", "SNOMEDCT:10623005", "SNOMEDCT:254145001", "SNOMEDCT:789439000", "medgen:120444", "icd11.foundation:1704766818", "HP:0010734"], "information_content": 86.3}
{"id": "MONDO:0007542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Camurati-Engelmann disease", "equivalent_identifiers": ["MONDO:0007542", "DOID:4997", "OMIM:131300", "orphanet:1328", "UMLS:C0011989", "MESH:D003966", "MEDDRA:10087147", "MEDDRA:10087161", "MEDDRA:10088278", "NCIT:C84610", "SNOMEDCT:318761000119105", "SNOMEDCT:34643004", "medgen:4268", "ICD10:Q78.3", "HP:0100252"], "information_content": 95.4}
{"id": "NCBIGene:6445", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SGCG", "equivalent_identifiers": ["NCBIGene:6445", "ENSEMBL:ENSG00000102683", "HGNC:10809", "OMIM:608896", "UMLS:C1420009", "UniProtKB:Q13326", "PR:Q13326", "ENSEMBL:ENSP00000218867", "ENSEMBL:ENSP00000218867.3", "UMLS:C2351396", "MESH:C526573"], "information_content": 95.4}
{"id": "NCBIGene:10562", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OLFM4", "equivalent_identifiers": ["NCBIGene:10562", "ENSEMBL:ENSG00000102837", "HGNC:17190", "OMIM:614061", "UMLS:C1538532", "UniProtKB:Q6UX06", "PR:Q6UX06", "ENSEMBL:ENSP00000219022", "ENSEMBL:ENSP00000219022.2", "UMLS:C1122298", "UMLS:C3828717", "MESH:C454127"], "information_content": 92.8}
{"id": "UniProtKB:P78549-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endonuclease III-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78549-1", "PR:P78549-1", "ENSEMBL:ENSP00000219066", "ENSEMBL:ENSP00000219066.1"], "information_content": 100.0}
{"id": "DOID:0111684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary mixed polyposis syndrome", "equivalent_identifiers": ["DOID:0111684"]}
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{"id": "NCBIGene:10127", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF263", "equivalent_identifiers": ["NCBIGene:10127", "ENSEMBL:ENSG00000006194", "HGNC:13056", "OMIM:604191", "UMLS:C1421750", "UniProtKB:D3DUC1", "ENSEMBL:ENSP00000461146", "ENSEMBL:ENSP00000461146.2", "ENSEMBL:ENSP00000461755", "ENSEMBL:ENSP00000461755.2", "UniProtKB:I3NI39", "ENSEMBL:ENSP00000461861", "ENSEMBL:ENSP00000461861.2", "UniProtKB:O14978", "PR:O14978", "ENSEMBL:ENSP00000219069", "ENSEMBL:ENSP00000219069.5", "UMLS:C1308177", "MESH:C107307"], "information_content": 92.8}
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{"id": "MONDO:0010455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia", "equivalent_identifiers": ["MONDO:0010455", "DOID:0080319", "OMIM:300853", "orphanet:317476", "UMLS:C3275445", "NCIT:C126336", "SNOMEDCT:711481001", "medgen:477076"], "information_content": 100.0}
{"id": "MONDO:0014637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DOCK2 deficiency", "equivalent_identifiers": ["MONDO:0014637", "DOID:0111951", "OMIM:616433", "orphanet:447737", "UMLS:C4225328", "NCIT:C176799", "SNOMEDCT:1197479002", "medgen:901370"], "information_content": 100.0}
{"id": "NCBIGene:10204", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUTF2", "equivalent_identifiers": ["NCBIGene:10204", "ENSEMBL:ENSG00000102898", "HGNC:13722", "OMIM:605813", "UMLS:C1422162", "UniProtKB:P61970", "PR:P61970", "ENSEMBL:ENSP00000219169", "ENSEMBL:ENSP00000219169.4", "ENSEMBL:ENSP00000457022", "ENSEMBL:ENSP00000457022.1", "ENSEMBL:ENSP00000457989", "ENSEMBL:ENSP00000457989.1", "ENSEMBL:ENSP00000515103", "ENSEMBL:ENSP00000515103.1", "ENSEMBL:ENSP00000515104", "ENSEMBL:ENSP00000515104.1", "UMLS:C0071191", "MESH:C038965"], "information_content": 89.4}
{"id": "MONDO:0009670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital contracture syndrome 1", "equivalent_identifiers": ["MONDO:0009670", "DOID:0060559", "OMIM:253310", "orphanet:1486", "UMLS:C1854664", "MESH:C537194", "SNOMEDCT:715418007", "medgen:344338"], "information_content": 100.0}
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{"id": "UniProtKB:Q9Y2Y0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor-like protein 2-binding protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2Y0-1", "PR:Q9Y2Y0-1", "ENSEMBL:ENSP00000219204", "ENSEMBL:ENSP00000219204.3"], "information_content": 100.0}
{"id": "MONDO:0015459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasopharyngeal carcinoma", "equivalent_identifiers": ["MONDO:0015459", "DOID:9261", "OMIM:607107", "orphanet:150", "UMLS:C0153393", "UMLS:C0153394", "UMLS:C0153395", "UMLS:C0153396", "UMLS:C0238301", "UMLS:C1846758", "UMLS:C2931822", "MESH:D00007727", "MESH:D000077274", "MEDDRA:10025703", "MEDDRA:10026057", "MEDDRA:10026371", "MEDDRA:10026507", "MEDDRA:10028793", "NCIT:C194054", "NCIT:C194055", "NCIT:C194056", "NCIT:C194057", "NCIT:C3871", "SNOMEDCT:187693006", "SNOMEDCT:187700006", "SNOMEDCT:363398003", "SNOMEDCT:449248000", "SNOMEDCT:709031009", "medgen:419909", "icd11.foundation:1883313543", "ICD10:C11", "ICD10:C11.0", "ICD10:C11.1", "ICD10:C11.2", "ICD10:C11.3", "ICD9:147", "ICD9:147.0", "ICD9:147.1", "ICD9:147.2", "ICD9:147.3"], "information_content": 72.1}
{"id": "MONDO:0005055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kaposi Sarcoma", "equivalent_identifiers": ["MONDO:0005055", "DOID:8632", "orphanet:33276", "EFO:0000558", "UMLS:C0036220", "UMLS:C0153560", "UMLS:C0153561", "UMLS:C0153562", "UMLS:C0153563", "UMLS:C0153564", "UMLS:C0153565", "UMLS:C0276535", "UMLS:C0346935", "UMLS:C0346936", "UMLS:C1332265", "UMLS:C1332847", "UMLS:C1333453", "UMLS:C1333744", "UMLS:C1333776", "UMLS:C1334318", "UMLS:C1334457", "UMLS:C1335372", "UMLS:C1335509", "MESH:C554498", "MESH:D012514", "MEDDRA:10023284", "MEDDRA:10023285", "MEDDRA:10023286", "MEDDRA:10023289", "MEDDRA:10023290", "MEDDRA:10023291", "MEDDRA:10023292", "MEDDRA:10023293", "MEDDRA:10023295", "MEDDRA:10023296", "MEDDRA:10023297", "MEDDRA:10023298", "MEDDRA:10028220", "MEDDRA:10028221", "MEDDRA:10028222", "MEDDRA:10055863", "NCIT:C194225", "NCIT:C27500", "NCIT:C3550", "NCIT:C3551", "NCIT:C3992", "NCIT:C4578", "NCIT:C4579", "NCIT:C5363", "NCIT:C5523", "NCIT:C5529", "NCIT:C5602", "NCIT:C5706", "NCIT:C5842", "NCIT:C6377", "NCIT:C6749", "NCIT:C7006", "NCIT:C9087", "SNOMEDCT:109385007", "SNOMEDCT:109386008", "SNOMEDCT:109388009", "SNOMEDCT:109390005", "SNOMEDCT:109391009", "SNOMEDCT:1179374007", "SNOMEDCT:188029000", "SNOMEDCT:255114007", "SNOMEDCT:255115008", "SNOMEDCT:420524008", "SNOMEDCT:49937004", "medgen:11321", "ICD10:C46", "ICD10:C46.0", "ICD10:C46.1", "ICD10:C46.2", "ICD10:C46.3", "ICD10:C46.4", "ICD10:C46.5", "ICD9:176", "ICD9:176.0", "ICD9:176.1", "ICD9:176.2", "ICD9:176.3", "ICD9:176.4", "ICD9:176.5", "HP:0100726"], "information_content": 73.8}
{"id": "MONDO:0003572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasopharyngeal type undifferentiated carcinoma", "equivalent_identifiers": ["MONDO:0003572", "DOID:5660", "UMLS:C0334254", "MEDDRA:10082022", "MEDDRA:10082023", "MEDDRA:10089969", "NCIT:C4107", "SNOMEDCT:7300000", "SNOMEDCT:764938007", "medgen:87199"], "information_content": 76.7}
{"id": "NCBIGene:51090", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLLP", "equivalent_identifiers": ["NCBIGene:51090", "ENSEMBL:ENSG00000102934", "HGNC:18553", "OMIM:600340", "UMLS:C1538680", "UniProtKB:Q9Y342", "PR:Q9Y342", "ENSEMBL:ENSP00000219207", "ENSEMBL:ENSP00000219207.5", "UMLS:C1434865", "MESH:C048897"], "information_content": 95.4}
{"id": "NCBIGene:6367", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL22", "equivalent_identifiers": ["NCBIGene:6367", "ENSEMBL:ENSG00000102962", "HGNC:10621", "OMIM:602957", "UMLS:C1332685", "UniProtKB:O00626", "PR:O00626", "ENSEMBL:ENSP00000219235", "ENSEMBL:ENSP00000219235.4", "UMLS:C0674299", "MESH:C515482"], "information_content": 85.5}
{"id": "NCBIGene:1723", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DHODH", "equivalent_identifiers": ["NCBIGene:1723", "ENSEMBL:ENSG00000102967", "HGNC:2867", "OMIM:126064", "UMLS:C1333217", "UniProtKB:Q02127", "PR:Q02127", "ENSEMBL:ENSP00000219240", "ENSEMBL:ENSP00000219240.4", "UMLS:C3887697"], "information_content": 95.4}
{"id": "MONDO:0009903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postaxial acrofacial dysostosis", "equivalent_identifiers": ["MONDO:0009903", "DOID:0111259", "OMIM:263750", "orphanet:246", "UMLS:C0265257", "MESH:C537680", "SNOMEDCT:66038001", "medgen:120522", "icd11.foundation:70602060"], "information_content": 100.0}
{"id": "MONDO:0008675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Freeman-Sheldon syndrome", "equivalent_identifiers": ["MONDO:0008675", "DOID:0111604", "DOID:0111605", "OMIM:193700", "orphanet:2053", "UMLS:C0265224", "MESH:C535483", "MEDDRA:10073655", "NCIT:C98931", "SNOMEDCT:52616002", "medgen:120516", "icd11.foundation:1314169421"], "information_content": 95.4}
{"id": "NCBIGene:6361", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL17", "equivalent_identifiers": ["NCBIGene:6361", "ENSEMBL:ENSG00000102970", "HGNC:10615", "OMIM:601520", "UMLS:C1332680", "UniProtKB:Q92583", "PR:Q92583", "ENSEMBL:ENSP00000219244", "ENSEMBL:ENSP00000219244.4", "ENSEMBL:ENSP00000480147", "ENSEMBL:ENSP00000480147.1", "UMLS:C0539535", "MESH:C106230"], "information_content": 83.1}
{"id": "MONDO:0018229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stevens-Johnson syndrome", "equivalent_identifiers": ["MONDO:0018229", "DOID:0050426", "OMIM:608579", "orphanet:36426", "EFO:0004276", "UMLS:C0038325", "UMLS:C1837818", "UMLS:C1840548", "UMLS:C2608081", "UMLS:C3277286", "MESH:D013262", "MEDDRA:10006561", "MEDDRA:10015209", "MEDDRA:10015211", "MEDDRA:10015219", "MEDDRA:10042029", "MEDDRA:10042030", "MEDDRA:10042033", "MEDDRA:10042849", "NCIT:C79484", "SNOMEDCT:73442001", "medgen:20955", "icd11.foundation:450167795", "ICD10:L51.1", "ICD9:695.13"], "information_content": 100.0}
{"id": "MONDO:0006610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin atrophy", "equivalent_identifiers": ["MONDO:0006610", "DOID:2733", "EFO:1000766", "UMLS:C0151514", "MEDDRA:10003719", "MEDDRA:10040799", "NCIT:C35163", "SNOMEDCT:399979006", "SNOMEDCT:400190005", "medgen:101793", "ICD10:L90", "HP:0004334"], "information_content": 87.2}
{"id": "NCBIGene:5432", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR2C", "equivalent_identifiers": ["NCBIGene:5432", "ENSEMBL:ENSG00000102978", "HGNC:9189", "OMIM:180663", "UMLS:C1418740", "UniProtKB:P19387", "PR:P19387", "ENSEMBL:ENSP00000219252", "ENSEMBL:ENSP00000219252.4", "UMLS:C1452334", "MESH:C491783", "UniProtKB:Q6FGR6"], "information_content": 90.9}
{"id": "MONDO:0011539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 5", "equivalent_identifiers": ["MONDO:0011539", "DOID:0110936", "OMIM:605355", "orphanet:98902", "UMLS:C1854380", "MESH:C538397", "SNOMEDCT:1197155007", "medgen:344273"], "information_content": 100.0}
{"id": "UniProtKB:Q9NPB6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "partitioning defective 6 homolog alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPB6-1", "PR:Q9NPB6-1", "ENSEMBL:ENSP00000219255", "ENSEMBL:ENSP00000219255.3"], "information_content": 100.0}
{"id": "NCBIGene:4324", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP15", "equivalent_identifiers": ["NCBIGene:4324", "ENSEMBL:ENSG00000102996", "HGNC:7161", "OMIM:602261", "UMLS:C1417204", "UniProtKB:P51511", "PR:P51511", "ENSEMBL:ENSP00000219271", "ENSEMBL:ENSP00000219271.3", "UMLS:C1568286", "MESH:C507098"], "information_content": 95.4}
{"id": "UniProtKB:Q9BQ65-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U6 snRNA phosphodiesterase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQ65-1", "PR:Q9BQ65-1", "ENSEMBL:ENSP00000219281", "ENSEMBL:ENSP00000219281.3"], "information_content": 100.0}
{"id": "MONDO:0008939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated cerebellar hypoplasia/agenesis", "equivalent_identifiers": ["MONDO:0008939", "DOID:0070338", "OMIM:213000", "orphanet:1398", "UMLS:C0266470", "UMLS:C5231391", "MESH:C562568", "MEDDRA:10008033", "MEDDRA:10021070", "NCIT:C98890", "SNOMEDCT:16026008", "medgen:1695950", "HP:0001321"], "information_content": 86.3}
{"id": "MONDO:0008999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cohen syndrome", "equivalent_identifiers": ["MONDO:0008999", "DOID:0111590", "OMIM:216550", "orphanet:193", "UMLS:C0265223", "MESH:C536438", "MEDDRA:10049066", "SNOMEDCT:56604005", "medgen:78539", "icd11.foundation:1188737383"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0I3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 263 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0I3-1", "PR:Q9H0I3-1", "ENSEMBL:ENSP00000219299", "ENSEMBL:ENSP00000219299.4"], "information_content": 100.0}
{"id": "NCBIGene:221191", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS54", "equivalent_identifiers": ["NCBIGene:221191", "ENSEMBL:ENSG00000103023", "HGNC:26336", "UMLS:C2828578", "UniProtKB:A0A140VKC3", "UniProtKB:F5H6C6", "ENSEMBL:ENSP00000437705", "ENSEMBL:ENSP00000437705.1", "UniProtKB:Q6PEW0", "PR:Q6PEW0", "ENSEMBL:ENSP00000219301", "ENSEMBL:ENSP00000219301.4", "ENSEMBL:ENSP00000455024", "ENSEMBL:ENSP00000455024.1"], "information_content": 100.0}
{"id": "MONDO:0600030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)", "equivalent_identifiers": ["MONDO:0600030", "DOID:0080649", "orphanet:585956", "UMLS:C2698306", "UMLS:C2698315", "UMLS:C5680320", "NCIT:C80341", "NCIT:C80347", "SNOMEDCT:450956008", "SNOMEDCT:838343008", "medgen:396324"], "information_content": 89.4}
{"id": "MONDO:0012883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute promyelocytic leukemia", "equivalent_identifiers": ["MONDO:0012883", "DOID:0060318", "DOID:0081081", "OMIM:612376", "orphanet:520", "EFO:0000224", "UMLS:C0023487", "UMLS:C5961168", "MESH:D015473", "MEDDRA:10001019", "MEDDRA:10001020", "NCIT:C3182", "SNOMEDCT:110004001", "SNOMEDCT:28950004", "medgen:44127", "ICD10:C92.4", "HP:0004836"], "information_content": 77.8}
{"id": "MONDO:0011338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Omenn syndrome", "equivalent_identifiers": ["MONDO:0011338", "DOID:0060010", "OMIM:603554", "orphanet:39041", "EFO:1001499", "UMLS:C1801959", "UMLS:C2700553", "UMLS:C2931884", "MESH:C538564", "MEDDRA:10068785", "MEDDRA:10069097", "NCIT:C61240", "SNOMEDCT:307650006", "SNOMEDCT:722067005", "medgen:398130", "ICD10:D81.8"], "information_content": 90.9}
{"id": "NCBIGene:4832", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NME3", "equivalent_identifiers": ["NCBIGene:4832", "ENSEMBL:ENSG00000103024", "HGNC:7851", "OMIM:601817", "UMLS:C1417742", "UniProtKB:Q13232", "PR:Q13232", "ENSEMBL:ENSP00000219302", "ENSEMBL:ENSP00000219302.3", "UMLS:C1310081", "MESH:C517942"], "information_content": 90.9}
{"id": "MONDO:0000062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated microphthalmia", "equivalent_identifiers": ["MONDO:0000062", "DOID:0080637", "OMIM.PS:251600"], "information_content": 79.3}
{"id": "NCBIGene:5713", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMD7", "equivalent_identifiers": ["NCBIGene:5713", "ENSEMBL:ENSG00000103035", "HGNC:9565", "OMIM:157970", "UMLS:C1419038", "UniProtKB:P51665", "PR:P51665", "ENSEMBL:ENSP00000219313", "ENSEMBL:ENSP00000219313.4", "UMLS:C1505521", "MESH:C488765"], "information_content": 100.0}
{"id": "UniProtKB:Q8TBK2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-lysine methyltransferase SETD6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBK2-1", "PR:Q8TBK2-1", "ENSEMBL:ENSP00000219315", "ENSEMBL:ENSP00000219315.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY59-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sphingomyelin phosphodiesterase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY59-1", "PR:Q9NY59-1", "ENSEMBL:ENSP00000219334", "ENSEMBL:ENSP00000219334.5"], "information_content": 100.0}
{"id": "MONDO:0014856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 30", "equivalent_identifiers": ["MONDO:0014856", "DOID:0111471", "OMIM:616974", "orphanet:478042", "EFO:0009038", "UMLS:C5567605", "SNOMEDCT:1172841001", "medgen:1799028"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCC3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal phospholipase A and acyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCC3-1", "PR:Q8NCC3-1", "ENSEMBL:ENSP00000219345", "ENSEMBL:ENSP00000219345.5"], "information_content": 100.0}
{"id": "UniProtKB:Q7L5A8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fatty acid 2-hydroxylase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L5A8-1", "PR:Q7L5A8-1", "ENSEMBL:ENSP00000219368", "ENSEMBL:ENSP00000219368.3"], "information_content": 100.0}
{"id": "MONDO:0009419", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Woodhouse-Sakati syndrome", "equivalent_identifiers": ["MONDO:0009419", "DOID:0112264", "OMIM:241080", "orphanet:3464", "UMLS:C0342286", "MESH:C536742", "MEDDRA:10082379", "SNOMEDCT:237616002", "SNOMEDCT:816067005", "medgen:83337", "icd11.foundation:1893572805"], "information_content": 100.0}
{"id": "MONDO:0011426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aceruloplasminemia", "equivalent_identifiers": ["MONDO:0011426", "DOID:0050711", "OMIM:604290", "orphanet:48818", "UMLS:C0878682", "MEDDRA:10083235", "MEDDRA:10083240", "NCIT:C189281", "SNOMEDCT:124224004", "medgen:168057"], "information_content": 100.0}
{"id": "MONDO:0002283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroaxonal dystrophy", "equivalent_identifiers": ["MONDO:0002283", "DOID:2367", "UMLS:C0338473", "MESH:D019150", "NCIT:C161542", "SNOMEDCT:230365004", "medgen:90924"], "information_content": 79.3}
{"id": "MONDO:0010031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sjogren-Larsson syndrome", "equivalent_identifiers": ["MONDO:0010031", "DOID:14501", "OMIM:270200", "orphanet:816", "UMLS:C0037231", "MESH:D016111", "MEDDRA:10048676", "MEDDRA:10059143", "NCIT:C85070", "SNOMEDCT:111303009", "medgen:11443", "icd11.foundation:418359090"], "information_content": 95.4}
{"id": "MONDO:0009567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marinesco-Sjogren syndrome", "equivalent_identifiers": ["MONDO:0009567", "DOID:0080195", "OMIM:248800", "orphanet:559", "UMLS:C0024814", "SNOMEDCT:80734006", "medgen:6222"], "information_content": 95.4}
{"id": "NCBIGene:56942", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CMC2", "equivalent_identifiers": ["NCBIGene:56942", "ENSEMBL:ENSG00000103121", "HGNC:24447", "UMLS:C3469911", "UniProtKB:Q9NRP2", "PR:Q9NRP2", "ENSEMBL:ENSP00000219400", "ENSEMBL:ENSP00000219400.3", "ENSEMBL:ENSP00000455457", "ENSEMBL:ENSP00000455457.2", "ENSEMBL:ENSP00000455723", "ENSEMBL:ENSP00000455723.1", "ENSEMBL:ENSP00000456841", "ENSEMBL:ENSP00000456841.1", "ENSEMBL:ENSP00000517609", "ENSEMBL:ENSP00000517609.1", "ENSEMBL:ENSP00000517614", "ENSEMBL:ENSP00000517614.1", "ENSEMBL:ENSP00000517615", "ENSEMBL:ENSP00000517615.1", "ENSEMBL:ENSP00000517618", "ENSEMBL:ENSP00000517618.1", "UMLS:C4724499"], "information_content": 90.9}
{"id": "UniProtKB:Q13087-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein disulfide-isomerase A2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13087-1", "PR:Q13087-1", "ENSEMBL:ENSP00000219406", "ENSEMBL:ENSP00000219406.7"], "information_content": 100.0}
{"id": "MONDO:0015175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune pancreatitis", "equivalent_identifiers": ["MONDO:0015175", "DOID:0040091", "orphanet:103919", "UMLS:C2609129", "MESH:D000081012", "MEDDRA:10069002", "SNOMEDCT:448542008", "medgen:750633", "icd11.foundation:2057951941"], "information_content": 92.8}
{"id": "NCBIGene:398", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGDIG", "equivalent_identifiers": ["NCBIGene:398", "ENSEMBL:ENSG00000242173", "HGNC:680", "OMIM:602844", "UMLS:C1412527", "UniProtKB:F1T0H7", "UMLS:C1743023", "MESH:C569643", "UniProtKB:Q99819", "PR:Q99819", "ENSEMBL:ENSP00000219409", "ENSEMBL:ENSP00000219409.3"], "information_content": 95.4}
{"id": "UniProtKB:P29372-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-3-methyladenine glycosylase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P29372-1", "PR:P29372-1", "ENSEMBL:ENSP00000219431", "ENSEMBL:ENSP00000219431.4"], "information_content": 100.0}
{"id": "UniProtKB:P49815-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tuberin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49815-1", "PR:P49815-1", "ENSEMBL:ENSP00000219476", "ENSEMBL:ENSP00000219476.3"], "information_content": 100.0}
{"id": "MONDO:0005167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibroma", "equivalent_identifiers": ["MONDO:0005167", "DOID:0050871", "EFO:0002424", "UMLS:C0016045", "MESH:D005350", "MEDDRA:10016629", "MEDDRA:10016630", "MEDDRA:10045154", "NCIT:C3041", "SNOMEDCT:112682009", "SNOMEDCT:424568000", "medgen:42016", "HP:0010614"], "information_content": 74.2}
{"id": "MONDO:0006975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "smooth muscle tumor", "equivalent_identifiers": ["MONDO:0006975", "DOID:4310", "EFO:1001185", "UMLS:C0206658", "MESH:D018235", "NCIT:C3751", "SNOMEDCT:75109009", "medgen:104911"], "information_content": 64.9}
{"id": "MONDO:0012400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortical dysplasia-focal epilepsy syndrome", "equivalent_identifiers": ["MONDO:0012400", "DOID:0090130", "OMIM:610042", "orphanet:163681", "UMLS:C2750246", "UMLS:C4552043", "MESH:C567657", "NCIT:C133743", "medgen:413258", "ICD10:Q04.8"], "information_content": 100.0}
{"id": "MONDO:0859689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatobiliary benign neoplasm", "equivalent_identifiers": ["MONDO:0859689", "DOID:3117"], "information_content": 86.3}
{"id": "MONDO:0000382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "respiratory system benign neoplasm", "equivalent_identifiers": ["MONDO:0000382", "DOID:0050621", "UMLS:C0497556", "NCIT:C8531", "SNOMEDCT:255166003", "medgen:635669"], "information_content": 74.7}
{"id": "UniProtKB:O00746-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoside diphosphate kinase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00746-1", "PR:O00746-1", "ENSEMBL:ENSP00000219479", "ENSEMBL:ENSP00000219479.2"], "information_content": 100.0}
{"id": "MONDO:0009973", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reticular dysgenesis", "equivalent_identifiers": ["MONDO:0009973", "DOID:0060020", "OMIM:267500", "orphanet:33355", "UMLS:C0272167", "MESH:C538361", "NCIT:C27070", "SNOMEDCT:111584000", "medgen:124417"], "information_content": 95.4}
{"id": "UniProtKB:Q9NUI1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUI1-1", "PR:Q9NUI1-1", "ENSEMBL:ENSP00000219481", "ENSEMBL:ENSP00000219481.5", "ENSEMBL:ENSP00000481547", "ENSEMBL:ENSP00000481547.1"], "information_content": 100.0}
{"id": "MONDO:0009388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlysinemia", "equivalent_identifiers": ["MONDO:0009388", "DOID:9274", "OMIM:238700", "orphanet:2203", "UMLS:C0268553", "UMLS:C0543533", "UMLS:C1527317", "MESH:D020167", "MEDDRA:10081311", "MEDDRA:10081312", "NCIT:C123433", "SNOMEDCT:58558003", "medgen:82816", "ICD10:E72.3", "HP:0002161"], "information_content": 95.4}
{"id": "MONDO:0007172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 1", "equivalent_identifiers": ["MONDO:0007172", "DOID:0110106", "OMIM:108800", "UMLS:C1862389", "UMLS:C1862392", "MESH:C566239", "MESH:C566241", "medgen:349495", "ICD10:Q21.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNE7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase CHIP isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNE7-1", "PR:Q9UNE7-1", "ENSEMBL:ENSP00000219548", "ENSEMBL:ENSP00000219548.4"], "information_content": 100.0}
{"id": "MONDO:0019037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive supranuclear palsy", "equivalent_identifiers": ["MONDO:0019037", "DOID:678", "OMIM.PS:601104", "orphanet:683", "UMLS:C0038868", "MESH:D013494", "MEDDRA:10036813", "MEDDRA:10054970", "NCIT:C85028", "SNOMEDCT:192976002", "medgen:21026", "icd11.foundation:1493396558", "ICD10:G23.1"], "information_content": 85.5}
{"id": "MONDO:0026777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "VEXAS syndrome", "equivalent_identifiers": ["MONDO:0026777", "DOID:0080828", "OMIM:301054", "orphanet:596753", "UMLS:C5435753", "MESH:C000721467", "MEDDRA:10085860", "NCIT:C181924", "SNOMEDCT:1290093003", "medgen:1765785"], "information_content": 100.0}
{"id": "UniProtKB:O75783-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rhomboid-related protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75783-1", "PR:O75783-1", "ENSEMBL:ENSP00000219551", "ENSEMBL:ENSP00000219551.2"], "information_content": 100.0}
{"id": "MONDO:0009824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary hyperoxaluria type 2", "equivalent_identifiers": ["MONDO:0009824", "DOID:0111671", "OMIM:260000", "orphanet:93599", "UMLS:C0268165", "MESH:C536415", "NCIT:C123213", "SNOMEDCT:40951006", "medgen:120616", "icd11.foundation:347920969"], "information_content": 100.0}
{"id": "MONDO:0007856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma-esophageal carcinoma syndrome", "equivalent_identifiers": ["MONDO:0007856", "DOID:0111506", "OMIM:148500", "orphanet:2198", "UMLS:C0473572", "UMLS:C1835664", "MESH:C536164", "SNOMEDCT:111030006", "medgen:324338"], "information_content": 100.0}
{"id": "UniProtKB:O15553-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyrin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15553-2", "PR:O15553-2", "ENSEMBL:ENSP00000219596", "ENSEMBL:ENSP00000219596.1"], "information_content": 100.0}
{"id": "MONDO:0002052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphadenitis", "equivalent_identifiers": ["MONDO:0002052", "DOID:1602", "UMLS:C0024205", "UMLS:C0154304", "UMLS:C0157705", "MESH:D008199", "MEDDRA:10000841", "MEDDRA:10008955", "MEDDRA:10025188", "MEDDRA:10025189", "MEDDRA:10025191", "MEDDRA:10025192", "MEDDRA:10050823", "MEDDRA:10085676", "NCIT:C26821", "NCIT:C26966", "NCIT:C26978", "SNOMEDCT:19471005", "SNOMEDCT:32035007", "SNOMEDCT:41174002", "medgen:7410", "icd11.foundation:1483611415", "ICD10:I88.1", "ICD10:L04", "ICD9:289.1", "ICD9:683", "HP:0002840"], "information_content": 82.6}
{"id": "MONDO:0006752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erysipeloid", "equivalent_identifiers": ["MONDO:0006752", "DOID:0050061", "EFO:1000928", "UMLS:C1276801", "MESH:D004887", "MEDDRA:10015146", "MEDDRA:10015147", "SNOMEDCT:266005008", "SNOMEDCT:400105005", "medgen:266170"], "information_content": 100.0}
{"id": "MONDO:0006559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acne inversa", "equivalent_identifiers": ["MONDO:0006559", "DOID:2280", "EFO:1000710", "UMLS:C0162836", "MESH:D017497", "MEDDRA:10020041", "MEDDRA:10076650", "MEDDRA:10085165", "NCIT:C128429", "SNOMEDCT:59393003", "medgen:57993", "icd11.foundation:1621794154", "ICD10:L73.2", "HP:0040154"], "information_content": 89.4}
{"id": "MONDO:0019266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SAPHO syndrome", "equivalent_identifiers": ["MONDO:0019266", "DOID:13677", "orphanet:793", "EFO:1001164", "UMLS:C0263859", "MESH:D020083", "MEDDRA:10051316", "NCIT:C119049", "NCIT:C84530", "SNOMEDCT:60684003", "medgen:120490", "icd11.foundation:1901494067"], "information_content": 100.0}
{"id": "MONDO:0004934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periostitis", "equivalent_identifiers": ["MONDO:0004934", "DOID:9957", "UMLS:C0031111", "MESH:D010522", "MEDDRA:10034550", "MEDDRA:10034551", "NCIT:C13184", "SNOMEDCT:41910004", "medgen:45816", "icd11.foundation:505688542", "HP:0040165"], "information_content": 87.2}
{"id": "MONDO:0002183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enthesopathy", "equivalent_identifiers": ["MONDO:0002183", "DOID:204", "EFO:0009666", "UMLS:C0242490", "MESH:D000070676", "MEDDRA:10014910", "MEDDRA:10014918", "MEDDRA:10045864", "SNOMEDCT:23680005", "medgen:66909", "ICD10:M77.9", "ICD9:726.90"], "information_content": 87.2}
{"id": "MONDO:0009664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mulibrey nanism", "equivalent_identifiers": ["MONDO:0009664", "DOID:0050436", "OMIM:253250", "orphanet:2576", "UMLS:C0524582", "MESH:D050336", "NCIT:C84906", "SNOMEDCT:81604003", "medgen:99347", "icd11.foundation:1167260635"], "information_content": 100.0}
{"id": "NCBIGene:1428", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRYM", "equivalent_identifiers": ["NCBIGene:1428", "ENSEMBL:ENSG00000103316", "HGNC:2418", "OMIM:123740", "UMLS:C1413741", "UniProtKB:Q14894", "PR:Q14894", "ENSEMBL:ENSP00000219599", "ENSEMBL:ENSP00000219599.3", "ENSEMBL:ENSP00000440227", "ENSEMBL:ENSP00000440227.1", "ENSEMBL:ENSP00000461904", "ENSEMBL:ENSP00000461904.2", "UMLS:C5565176", "MESH:C000716469"], "information_content": 95.4}
{"id": "UniProtKB:O75808-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calpain-15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75808-1", "PR:O75808-1", "ENSEMBL:ENSP00000219611", "ENSEMBL:ENSP00000219611.2"], "information_content": 100.0}
{"id": "MONDO:0009675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2A", "equivalent_identifiers": ["MONDO:0009675", "DOID:0110275", "OMIM:253600", "orphanet:267", "UMLS:C1299884", "UMLS:C1869123", "MESH:C535895", "NCIT:C142079", "SNOMEDCT:370474006", "SNOMEDCT:715341003", "medgen:358391"], "information_content": 100.0}
{"id": "MONDO:0000482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Writer's cramp", "equivalent_identifiers": ["MONDO:0000482", "DOID:0050841", "UMLS:C0154676", "MEDDRA:10031084", "SNOMEDCT:52008007", "medgen:57821", "ICD9:333.84", "HP:0002356"], "information_content": 100.0}
{"id": "MONDO:0001168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic hemiplegia", "equivalent_identifiers": ["MONDO:0001168", "DOID:10967", "UMLS:C0154694", "UMLS:C0270805", "MEDDRA:10019475", "MEDDRA:10021742", "MEDDRA:10041413", "MEDDRA:10058978", "NCIT:C116905", "SNOMEDCT:43486001", "SNOMEDCT:79633009", "medgen:56345", "icd11.foundation:1030700023", "ICD9:343.1", "HP:0011099"], "information_content": 95.4}
{"id": "NCBIGene:343", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AQP8", "equivalent_identifiers": ["NCBIGene:343", "ENSEMBL:ENSG00000103375", "HGNC:642", "OMIM:603750", "UMLS:C1412498", "UniProtKB:O94778", "PR:O94778", "ENSEMBL:ENSP00000219660", "ENSEMBL:ENSP00000219660.5", "UMLS:C1743716"], "information_content": 100.0}
{"id": "UniProtKB:Q70CQ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 31 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q70CQ4-1", "PR:Q70CQ4-1", "ENSEMBL:ENSP00000219689", "ENSEMBL:ENSP00000219689.7"], "information_content": 100.0}
{"id": "MONDO:0010192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 4A", "equivalent_identifiers": ["MONDO:0010192", "DOID:0110953", "OMIM:277580", "UMLS:C1848519", "MESH:C536467", "medgen:341244"], "information_content": 100.0}
{"id": "UniProtKB:O15405-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TOX high mobility group box family member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15405-1", "PR:O15405-1", "ENSEMBL:ENSP00000219746", "ENSEMBL:ENSP00000219746.9"], "information_content": 100.0}
{"id": "UniProtKB:P56270-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Myc-associated zinc finger protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P56270-2", "PR:P56270-2", "ENSEMBL:ENSP00000219782", "ENSEMBL:ENSP00000219782.6"], "information_content": 100.0}
{"id": "UniProtKB:O14735-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CDP-diacylglycerol--inositol 3-phosphatidyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14735-1", "PR:O14735-1", "ENSEMBL:ENSP00000219789", "ENSEMBL:ENSP00000219789.6", "ENSEMBL:ENSP00000454453", "ENSEMBL:ENSP00000454453.1", "ENSEMBL:ENSP00000457339", "ENSEMBL:ENSP00000457339.1"], "information_content": 100.0}
{"id": "MONDO:0024548", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peeling skin syndrome 1", "equivalent_identifiers": ["MONDO:0024548", "DOID:0070520", "OMIM:270300", "orphanet:263553", "UMLS:C1849193", "UMLS:C5679693", "UMLS:C5768235", "MESH:C564818", "SNOMEDCT:1240462005", "SNOMEDCT:724838009", "medgen:336530"], "information_content": 100.0}
{"id": "MONDO:0012345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acral peeling skin syndrome", "equivalent_identifiers": ["MONDO:0012345", "DOID:0070521", "OMIM:609796", "orphanet:263534", "UMLS:C1853354", "MESH:C536316", "MEDDRA:10078538", "SNOMEDCT:709416009", "medgen:342862"], "information_content": 100.0}
{"id": "UniProtKB:P23975-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium-dependent noradrenaline transporter isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P23975-2", "PR:P23975-2", "ENSEMBL:ENSP00000219833", "ENSEMBL:ENSP00000219833.8"], "information_content": 100.0}
{"id": "MONDO:0009123", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orthostatic hypotension 1", "equivalent_identifiers": ["MONDO:0009123", "DOID:0090145", "OMIM:223360", "orphanet:230", "UMLS:C0342687", "UMLS:C4746777", "MESH:C535600", "SNOMEDCT:237923004", "medgen:1648402"], "information_content": 100.0}
{"id": "MONDO:0700117", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SLC6A3-related dopamine transporter deficiency syndrome", "equivalent_identifiers": ["MONDO:0700117", "DOID:0070487"], "information_content": 92.8}
{"id": "MONDO:0001534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ocular hyperemia", "equivalent_identifiers": ["MONDO:0001534", "DOID:1248", "UMLS:C0155169", "MEDDRA:10015942", "MEDDRA:10020567", "MEDDRA:10030041", "MEDDRA:10030042", "MEDDRA:10060481", "SNOMEDCT:359610006", "SNOMEDCT:781682005", "medgen:509827"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWI9-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAX gene-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWI9-4", "PR:Q8IWI9-4", "ENSEMBL:ENSP00000219905", "ENSEMBL:ENSP00000219905.7"], "information_content": 100.0}
{"id": "MONDO:0001883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blue toe syndrome", "equivalent_identifiers": ["MONDO:0001883", "DOID:14121", "UMLS:C0242645", "MESH:D018438", "MEDDRA:10059126", "medgen:66940"], "information_content": 100.0}
{"id": "NCBIGene:366", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AQP9", "equivalent_identifiers": ["NCBIGene:366", "ENSEMBL:ENSG00000103569", "HGNC:643", "OMIM:602914", "UMLS:C1412499", "UniProtKB:H0YK62", "ENSEMBL:ENSP00000452673", "ENSEMBL:ENSP00000452673.1", "UMLS:C0669192", "MESH:C109669", "UniProtKB:O43315", "PR:O43315", "ENSEMBL:ENSP00000219919", "ENSEMBL:ENSP00000219919.4"], "information_content": 95.4}
{"id": "MONDO:0003366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrarthrosis", "equivalent_identifiers": ["MONDO:0003366", "DOID:528", "UMLS:C0158157", "UMLS:C1253936", "MESH:D006833", "MEDDRA:10014301", "MEDDRA:10014306", "MEDDRA:10020487", "MEDDRA:10023215", "NCIT:C49052", "SNOMEDCT:387637008", "medgen:222181", "ICD9:719.08"], "information_content": 92.8}
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{"id": "MONDO:0018958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy", "equivalent_identifiers": ["MONDO:0018958", "DOID:3191", "OMIM.PS:161800", "orphanet:607", "UMLS:C0206157", "MESH:D017696", "SNOMEDCT:75072002", "medgen:61528", "icd11.foundation:1996502540", "ICD10:G71.21"], "information_content": 80.9}
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{"id": "MONDO:0012996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AGAT deficiency", "equivalent_identifiers": ["MONDO:0012996", "DOID:0050712", "OMIM:612718", "orphanet:35704", "UMLS:C2675179", "MESH:C567192", "MEDDRA:10081857", "MEDDRA:10081868", "NCIT:C198575", "SNOMEDCT:702440000", "medgen:436367"], "information_content": 100.0}
{"id": "UniProtKB:O43548-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-glutamine gamma-glutamyltransferase 5 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O43548-1", "PR:O43548-1", "ENSEMBL:ENSP00000220420", "ENSEMBL:ENSP00000220420.5"], "information_content": 100.0}
{"id": "MONDO:0009006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C2 Deficiency", "equivalent_identifiers": ["MONDO:0009006", "DOID:0060295", "OMIM:217000", "UMLS:C3150275", "NCIT:C119992", "medgen:461625", "ICD10:D84.1"], "information_content": 95.4}
{"id": "MONDO:0018841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BASD", "equivalent_identifiers": ["MONDO:0018841", "DOID:0050674", "OMIM.PS:607765", "orphanet:485631", "EFO:0009039", "UMLS:C5680095", "medgen:1826069", "ICD10:K76.8"], "information_content": 87.2}
{"id": "UniProtKB:Q06547-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GA-binding protein subunit beta-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q06547-1", "PR:Q06547-1", "ENSEMBL:ENSP00000220429", "ENSEMBL:ENSP00000220429.8"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXD2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "secretogranin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXD2-1", "PR:Q8WXD2-1", "ENSEMBL:ENSP00000220478", "ENSEMBL:ENSP00000220478.3"], "information_content": 100.0}
{"id": "MONDO:0006952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinopathy of prematurity", "equivalent_identifiers": ["MONDO:0006952", "DOID:13025", "orphanet:90050", "EFO:1001158", "UMLS:C0035344", "MESH:D012178", "MEDDRA:10038933", "MEDDRA:10038974", "NCIT:C34982", "SNOMEDCT:415297005", "medgen:48438", "icd11.foundation:947283385", "ICD10:H35.1", "ICD9:362.21", "HP:0500049"], "information_content": 81.3}
{"id": "MONDO:0008373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal arterial tortuosity", "equivalent_identifiers": ["MONDO:0008373", "DOID:0111547", "OMIM:180000", "orphanet:75326", "UMLS:C0423401", "SNOMEDCT:247123003", "medgen:140840", "HP:0000631"], "information_content": 95.4}
{"id": "NCBIGene:55192", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJC17", "equivalent_identifiers": ["NCBIGene:55192", "ENSEMBL:ENSG00000104129", "HGNC:25556", "OMIM:616844", "UMLS:C1824948", "UniProtKB:Q9NVM6", "PR:Q9NVM6", "ENSEMBL:ENSP00000220496", "ENSEMBL:ENSP00000220496.4", "UMLS:C5226220", "MESH:C000655905"], "information_content": 100.0}
{"id": "MONDO:0005534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ileocolitis", "equivalent_identifiers": ["MONDO:0005534", "DOID:0060190", "EFO:0005624", "UMLS:C0949272", "MEDDRA:10062647", "medgen:184943"], "information_content": 100.0}
{"id": "MONDO:0011067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 12", "equivalent_identifiers": ["MONDO:0011067", "DOID:0110467", "OMIM:601386", "UMLS:C1832394", "MESH:C563327", "NCIT:C201586", "medgen:330455"], "information_content": 100.0}
{"id": "NCBIGene:171177", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHOV", "equivalent_identifiers": ["NCBIGene:171177", "ENSEMBL:ENSG00000104140", "HGNC:18313", "OMIM:620101", "UMLS:C1425440", "UniProtKB:Q96L33", "PR:Q96L33", "ENSEMBL:ENSP00000220507", "ENSEMBL:ENSP00000220507.4", "UMLS:C1143340", "MESH:C465202"], "information_content": 92.8}
{"id": "NCBIGene:57617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VPS18", "equivalent_identifiers": ["NCBIGene:57617", "ENSEMBL:ENSG00000104142", "HGNC:15972", "OMIM:608551", "UMLS:C1423875", "UniProtKB:Q9P253", "PR:Q9P253", "ENSEMBL:ENSP00000220509", "ENSEMBL:ENSP00000220509.5", "UMLS:C0965631", "MESH:C424437"], "information_content": 88.2}
{"id": "NCBIGene:11339", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OIP5", "equivalent_identifiers": ["NCBIGene:11339", "ENSEMBL:ENSG00000104147", "HGNC:20300", "OMIM:606020", "UMLS:C1538530", "UniProtKB:O43482", "PR:O43482", "ENSEMBL:ENSP00000220514", "ENSEMBL:ENSP00000220514.3", "UMLS:C1869141", "MESH:C517146"], "information_content": 95.4}
{"id": "NCBIGene:2137", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXTL3", "equivalent_identifiers": ["NCBIGene:2137", "ENSEMBL:ENSG00000012232", "HGNC:3518", "OMIM:605744", "UMLS:C1367595", "UniProtKB:A0A384NPY9", "UniProtKB:O43909", "PR:O43909", "ENSEMBL:ENSP00000220562", "ENSEMBL:ENSP00000220562.4", "ENSEMBL:ENSP00000512467", "ENSEMBL:ENSP00000512467.1", "ENSEMBL:ENSP00000512468", "ENSEMBL:ENSP00000512468.1", "ENSEMBL:ENSP00000512473", "ENSEMBL:ENSP00000512473.1", "ENSEMBL:ENSP00000512474", "ENSEMBL:ENSP00000512474.1", "UMLS:C1308412", "MESH:C110774"], "information_content": 90.9}
{"id": "MONDO:0100211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth hormone insensitivity with immune dysregulation 1, autosomal recessive", "equivalent_identifiers": ["MONDO:0100211", "DOID:0080836", "OMIM:245590", "orphanet:220465", "UMLS:C1855548", "UMLS:C4510411", "UMLS:C5435698", "MESH:C537871", "SNOMEDCT:724179008", "medgen:1734133"], "information_content": 100.0}
{"id": "MONDO:0009595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cartilage-hair hypoplasia", "equivalent_identifiers": ["MONDO:0009595", "DOID:14773", "OMIM:250250", "orphanet:175", "UMLS:C0220748", "MESH:C535916", "MEDDRA:10069596", "NCIT:C61245", "SNOMEDCT:7720002", "medgen:67398", "icd11.foundation:469051294"], "information_content": 95.4}
{"id": "UniProtKB:Q9UKV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein argonaute-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKV8-1", "PR:Q9UKV8-1", "ENSEMBL:ENSP00000220592", "ENSEMBL:ENSP00000220592.5"], "information_content": 100.0}
{"id": "MONDO:0007800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 18p deletion syndrome", "equivalent_identifiers": ["MONDO:0007800", "DOID:0060406", "OMIM:146390", "orphanet:1598", "orphanet:261974", "UMLS:C0432442", "MESH:C538309", "NCIT:C84521", "SNOMEDCT:270890001", "medgen:96604", "icd11.foundation:121037615"], "information_content": 100.0}
{"id": "NCBIGene:55824", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAG1", "equivalent_identifiers": ["NCBIGene:55824", "ENSEMBL:ENSG00000076641", "HGNC:30043", "OMIM:605767", "UMLS:C1538565", "UniProtKB:Q9NWQ8", "PR:Q9NWQ8", "ENSEMBL:ENSP00000220597", "ENSEMBL:ENSP00000220597.3"], "information_content": 90.9}
{"id": "MONDO:0013646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 8q21.11 deletion syndrome", "equivalent_identifiers": ["MONDO:0013646", "DOID:0060425", "OMIM:614230", "orphanet:284160", "UMLS:C3280231", "UMLS:C4305343", "SNOMEDCT:718615003", "medgen:481861"], "information_content": 100.0}
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{"id": "MONDO:0006980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "struma ovarii", "equivalent_identifiers": ["MONDO:0006980", "DOID:2640", "EFO:1001192", "UMLS:C0038478", "MESH:D013330", "MEDDRA:10062581", "NCIT:C7468", "SNOMEDCT:24327009", "medgen:20977", "icd11.foundation:185581438"], "information_content": 92.8}
{"id": "MONDO:0006742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endemic goiter", "equivalent_identifiers": ["MONDO:0006742", "DOID:13198", "EFO:1000916", "UMLS:C0018022", "MESH:D006043", "MEDDRA:10018496", "MEDDRA:10018501", "MEDDRA:10040699", "MEDDRA:10068848", "MEDDRA:10068849", "MEDDRA:10074036", "NCIT:C35023", "SNOMEDCT:267369002", "SNOMEDCT:56805008", "medgen:5357", "ICD10:E01.2", "ICD9:240.0"], "information_content": 92.8}
{"id": "MONDO:0006996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid crisis", "equivalent_identifiers": ["MONDO:0006996", "DOID:12837", "EFO:1001212", "UMLS:C0040127", "MESH:D013958", "MEDDRA:10011397", "MEDDRA:10043705", "MEDDRA:10043773", "MEDDRA:10043786", "NCIT:C112836", "SNOMEDCT:29028009", "medgen:11813", "icd11.foundation:1215823328", "HP:0011782"], "information_content": 100.0}
{"id": "MONDO:0006755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "euthyroid sick syndrome", "equivalent_identifiers": ["MONDO:0006755", "DOID:2856", "EFO:1000931", "UMLS:C0015190", "MESH:D005067", "MEDDRA:10015549", "NCIT:C113170", "SNOMEDCT:237542005", "medgen:41908", "ICD10:E07.81", "ICD9:790.94"], "information_content": 100.0}
{"id": "MONDO:0005333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperthyroxinemia", "equivalent_identifiers": ["MONDO:0005333", "DOID:2855", "EFO:0004127", "UMLS:C0020551", "MESH:D006981", "NCIT:C131850", "medgen:6973"], "information_content": 82.1}
{"id": "MONDO:0019496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroendocrine neoplasm", "equivalent_identifiers": ["MONDO:0019496", "DOID:169", "orphanet:877", "EFO:1001901", "UMLS:C0206754", "MESH:D018358", "MEDDRA:10052399", "MEDDRA:10062476", "NCIT:C188218", "NCIT:C3809", "SNOMEDCT:1286768001", "SNOMEDCT:1288045008", "SNOMEDCT:128928004", "SNOMEDCT:1290052006", "SNOMEDCT:255046005", "medgen:64652", "ICD10:D3A.8", "ICD9:209-209.99", "HP:0100634"], "information_content": 55.1}
{"id": "MONDO:0005040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "germ cell tumor", "equivalent_identifiers": ["MONDO:0005040", "DOID:2994", "DOID:3095", "EFO:0000514", "UMLS:C0027658", "UMLS:C0205851", "MESH:D009373", "MEDDRA:10075292", "NCIT:C3708", "SNOMEDCT:115233005", "SNOMEDCT:402878003", "medgen:60030"], "information_content": 59.5}
{"id": "MONDO:0004928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymph node disorder", "equivalent_identifiers": ["MONDO:0004928", "DOID:9942", "UMLS:C0272394", "MEDDRA:10049158", "NCIT:C35346", "SNOMEDCT:76616003", "medgen:78802"], "information_content": 73.7}
{"id": "MONDO:0006456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thymoma", "equivalent_identifiers": ["MONDO:0006456", "DOID:3275", "orphanet:99867", "EFO:1000581", "UMLS:C0040100", "MESH:D013945", "MEDDRA:10043670", "MEDDRA:10043675", "NCIT:C3411", "SNOMEDCT:1187428006", "SNOMEDCT:128856005", "SNOMEDCT:444231005", "medgen:52743", "icd11.foundation:33869057", "HP:0100522"], "information_content": 74.5}
{"id": "MONDO:0009514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laurence-Moon syndrome", "equivalent_identifiers": ["MONDO:0009514", "DOID:1930", "OMIM:245800", "orphanet:2377", "UMLS:C0023138", "MESH:D007849", "MEDDRA:10056710", "NCIT:C34760", "SNOMEDCT:232059000", "medgen:44078", "icd11.foundation:458834940"], "information_content": 100.0}
{"id": "MONDO:0003848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectopic thymus", "equivalent_identifiers": ["MONDO:0003848", "DOID:6307", "UMLS:C1333375", "NCIT:C27804", "medgen:232148"], "information_content": 100.0}
{"id": "MONDO:0016982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiosarcoma", "equivalent_identifiers": ["MONDO:0016982", "DOID:0001816", "orphanet:263413", "EFO:0003968", "UMLS:C0018923", "UMLS:C0854893", "MESH:D006394", "MEDDRA:10002476", "MEDDRA:10002479", "MEDDRA:10018827", "MEDDRA:10018828", "MEDDRA:10019407", "MEDDRA:10050367", "MEDDRA:10057700", "MEDDRA:10060540", "NCIT:C3088", "NCIT:C9275", "SNOMEDCT:33176006", "SNOMEDCT:39000009", "SNOMEDCT:403977003", "SNOMEDCT:863926008", "medgen:42385", "HP:0200058"], "information_content": 72.9}
{"id": "MONDO:0005853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant mixed neoplasm", "equivalent_identifiers": ["MONDO:0005853", "DOID:154", "EFO:1000356", "UMLS:C0206625", "UMLS:C0344459", "MESH:D018198", "NCIT:C3729", "NCIT:C8025", "SNOMEDCT:425225007", "SNOMEDCT:8145008", "medgen:64618"], "information_content": 62.9}
{"id": "MONDO:0003282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian cyst", "equivalent_identifiers": ["MONDO:0003282", "DOID:5119", "UMLS:C0029513", "UMLS:C0029927", "MESH:D010048", "MEDDRA:10011746", "MEDDRA:10011750", "MEDDRA:10033132", "MEDDRA:10033133", "MEDDRA:10033135", "NCIT:C3300", "SNOMEDCT:79883001", "medgen:14540", "ICD10:N83.2", "ICD9:620.2", "HP:0000138"], "information_content": 83.1}
{"id": "MONDO:0005843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mediastinal cancer", "equivalent_identifiers": ["MONDO:0005843", "DOID:5559", "EFO:0007362", "UMLS:C0153504", "MESH:D008479", "MEDDRA:10025649", "MEDDRA:10026137", "MEDDRA:10027081", "MEDDRA:10061241", "NCIT:C3549", "SNOMEDCT:363494000", "medgen:56308", "ICD10:C38.3", "ICD9:164.9"], "information_content": 73.4}
{"id": "MONDO:0004564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid malformation", "equivalent_identifiers": ["MONDO:0004564", "DOID:8433", "UMLS:C0877367", "MEDDRA:10048655", "MEDDRA:10062125", "NCIT:C27331", "medgen:209098"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCF1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AN1-type zinc finger protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCF1-1", "PR:Q8TCF1-1", "ENSEMBL:ENSP00000220669", "ENSEMBL:ENSP00000220669.5"], "information_content": 100.0}
{"id": "MONDO:0011339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 8", "equivalent_identifiers": ["MONDO:0011339", "DOID:0110823", "OMIM:603563", "orphanet:100989", "UMLS:C1863704", "MESH:C580458", "SNOMEDCT:785305006", "medgen:400359"], "information_content": 100.0}
{"id": "DOID:070355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multisystem proteinopathy", "equivalent_identifiers": ["DOID:070355"]}
{"id": "NCBIGene:6101", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RP1", "equivalent_identifiers": ["NCBIGene:6101", "ENSEMBL:ENSG00000104237", "HGNC:10263", "OMIM:603937", "UMLS:C1419605", "UniProtKB:P56715", "PR:P56715", "ENSEMBL:ENSP00000220676", "ENSEMBL:ENSP00000220676.1", "UMLS:C1431938", "MESH:C120042"], "information_content": 95.4}
{"id": "UniProtKB:O43353-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-interacting serine/threonine-protein kinase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43353-1", "PR:O43353-1", "ENSEMBL:ENSP00000220751", "ENSEMBL:ENSP00000220751.4"], "information_content": 100.0}
{"id": "NCBIGene:10404", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPQ", "equivalent_identifiers": ["NCBIGene:10404", "ENSEMBL:ENSG00000104324", "HGNC:16910", "OMIM:618754", "UMLS:C2985237", "UniProtKB:Q9Y646", "PR:Q9Y646", "ENSEMBL:ENSP00000220763", "ENSEMBL:ENSP00000220763.5", "UMLS:C2985239"], "information_content": 95.4}
{"id": "DOID:0111504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Li-Fraumeni syndrome 2", "equivalent_identifiers": ["DOID:0111504", "UMLS:C1836482", "MESH:C563755", "NCIT:C176588"], "information_content": 92.8}
{"id": "MONDO:0001856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "splenic artery aneurysm", "equivalent_identifiers": ["MONDO:0001856", "DOID:14006", "UMLS:C0155747", "MEDDRA:10002358", "MEDDRA:10041645", "SNOMEDCT:70405009", "medgen:510069", "ICD9:442.83"], "information_content": 100.0}
{"id": "UniProtKB:Q16698-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16698-1", "PR:Q16698-1", "ENSEMBL:ENSP00000220764", "ENSEMBL:ENSP00000220764.2"], "information_content": 100.0}
{"id": "MONDO:0009400", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperprolinemia type 1", "equivalent_identifiers": ["MONDO:0009400", "DOID:0080542", "OMIM:239500", "orphanet:419", "UMLS:C0268529", "MEDDRA:10058511", "MEDDRA:10058513", "SNOMEDCT:61071003", "medgen:120645"], "information_content": 100.0}
{"id": "NCBIGene:6422", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SFRP1", "equivalent_identifiers": ["NCBIGene:6422", "ENSEMBL:ENSG00000104332", "HGNC:10776", "OMIM:604156", "UMLS:C1419986", "UniProtKB:Q8N474", "PR:Q8N474", "ENSEMBL:ENSP00000220772", "ENSEMBL:ENSP00000220772.3", "UMLS:C0764157", "MESH:C117636"], "information_content": 83.6}
{"id": "MONDO:0009820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoporosis-pseudoglioma syndrome", "equivalent_identifiers": ["MONDO:0009820", "DOID:0060849", "OMIM:259770", "orphanet:2788", "UMLS:C0432252", "MESH:C536063", "MEDDRA:10052452", "NCIT:C130998", "SNOMEDCT:254112001", "medgen:98480"], "information_content": 100.0}
{"id": "UniProtKB:P00750-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tissue-type plasminogen activator isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P00750-1", "PR:P00750-1", "ENSEMBL:ENSP00000220809", "ENSEMBL:ENSP00000220809.4", "ENSEMBL:ENSP00000392045", "ENSEMBL:ENSP00000392045.2", "ENSEMBL:ENSP00000504311", "ENSEMBL:ENSP00000504311.1"], "information_content": 100.0}
{"id": "MONDO:0001256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arteriovenous hemangioma/malformation", "equivalent_identifiers": ["MONDO:0001256", "DOID:11294", "UMLS:C0003857", "UMLS:C0334533", "UMLS:C5960017", "MESH:D001165", "MEDDRA:10000035", "MEDDRA:10003186", "MEDDRA:10003193", "MEDDRA:10003229", "MEDDRA:10019389", "MEDDRA:10055898", "NCIT:C2882", "SNOMEDCT:233982006", "SNOMEDCT:234141001", "SNOMEDCT:24551003", "SNOMEDCT:403966009", "medgen:137780", "ICD10:I77.0", "HP:0100026"], "information_content": 78.8}
{"id": "MONDO:0002104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conversion disorder", "equivalent_identifiers": ["MONDO:0002104", "DOID:1768", "UMLS:C0009946", "MESH:D003291", "MEDDRA:10010893", "MEDDRA:10010894", "MEDDRA:10010895", "MEDDRA:10010896", "MEDDRA:10021155", "MEDDRA:10029335", "MEDDRA:10037942", "medgen:3230", "ICD10:F44", "ICD9:300.11"], "information_content": 100.0}
{"id": "MONDO:0013119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 77", "equivalent_identifiers": ["MONDO:0013119", "DOID:0110525", "OMIM:613079", "UMLS:C2746083", "MESH:C567543", "medgen:412541"], "information_content": 100.0}
{"id": "MONDO:0016567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Locked-In State", "equivalent_identifiers": ["MONDO:0016567", "DOID:12697", "orphanet:2406", "UMLS:C0023944", "MESH:D000080422", "MEDDRA:10024791", "MEDDRA:10024792", "NCIT:C197925", "SNOMEDCT:38023001", "medgen:7378", "icd11.foundation:17562655", "ICD10:G83.5", "ICD9:344.81"], "information_content": 100.0}
{"id": "MONDO:0009009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoplasminogenemia", "equivalent_identifiers": ["MONDO:0009009", "DOID:0111592", "OMIM:217090", "orphanet:722", "UMLS:C0398621", "UMLS:C1968804", "MESH:C566897", "MESH:C580017", "SNOMEDCT:95840007", "SNOMEDCT:95844003", "medgen:369859", "icd11.foundation:1240776230", "ICD10:E88.02"], "information_content": 100.0}
{"id": "MONDO:0000492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic venous insufficiency", "equivalent_identifiers": ["MONDO:0000492", "DOID:0050853", "UMLS:C1306557", "MEDDRA:10066682", "medgen:727071"], "information_content": 100.0}
{"id": "MONDO:0017215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "calciphylaxis", "equivalent_identifiers": ["MONDO:0017215", "DOID:4734", "orphanet:280062", "UMLS:C0006666", "MESH:D002115", "MEDDRA:10051714", "NCIT:C84607", "SNOMEDCT:237900002", "medgen:2404", "icd11.foundation:574291789"], "information_content": 92.8}
{"id": "MONDO:0006741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalomalacia", "equivalent_identifiers": ["MONDO:0006741", "DOID:2034", "EFO:1000915", "UMLS:C0014068", "MESH:D004678", "MEDDRA:10051818", "MEDDRA:10067463", "NCIT:C98920", "SNOMEDCT:58762006", "medgen:4936", "icd11.foundation:689481271", "HP:0040197"], "information_content": 92.8}
{"id": "NCBIGene:27121", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DKK4", "equivalent_identifiers": ["NCBIGene:27121", "ENSEMBL:ENSG00000104371", "HGNC:2894", "OMIM:605417", "UMLS:C1414060", "UniProtKB:Q9UBT3", "PR:Q9UBT3", "ENSEMBL:ENSP00000220812", "ENSEMBL:ENSP00000220812.2", "UMLS:C1310304", "UMLS:C3816454", "MESH:C442333"], "information_content": 89.4}
{"id": "UniProtKB:Q8TB36-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ganglioside-induced differentiation-associated protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TB36-1", "PR:Q8TB36-1", "ENSEMBL:ENSP00000220822", "ENSEMBL:ENSP00000220822.7"], "information_content": 100.0}
{"id": "MONDO:0008995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Yunis-Varon syndrome", "equivalent_identifiers": ["MONDO:0008995", "DOID:0060589", "OMIM:216340", "orphanet:3472", "UMLS:C1857663", "MESH:C536719", "MEDDRA:10082255", "medgen:341818", "icd11.foundation:1696991249"], "information_content": 100.0}
{"id": "MONDO:0009958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Refsum disease", "equivalent_identifiers": ["MONDO:0009958", "DOID:10582", "OMIM:266500", "orphanet:773", "UMLS:C0034960", "UMLS:C2749345", "MESH:C567602", "MESH:D012035", "MEDDRA:10034999", "MEDDRA:10038275", "NCIT:C85043", "SNOMEDCT:25362006", "medgen:11161", "ICD9:356.3"], "information_content": 100.0}
{"id": "MONDO:0014715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection", "equivalent_identifiers": ["MONDO:0014715", "DOID:0111975", "OMIM:616636", "orphanet:431166", "UMLS:C4225260", "medgen:904009"], "information_content": 100.0}
{"id": "NCBIGene:3646", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF3E", "equivalent_identifiers": ["NCBIGene:3646", "ENSEMBL:ENSG00000104408", "HGNC:3277", "OMIM:602210", "UMLS:C0812224", "UniProtKB:P60228", "PR:P60228", "ENSEMBL:ENSP00000220849", "ENSEMBL:ENSP00000220849.5"], "information_content": 84.8}
{"id": "MONDO:0011230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ossification of the posterior longitudinal ligament of the spine", "equivalent_identifiers": ["MONDO:0011230", "DOID:0060887", "OMIM:602475", "EFO:0005895", "UMLS:C0206366", "UMLS:C1865343", "MESH:C537143", "MESH:D017887", "MEDDRA:10058663", "NCIT:C84975", "SNOMEDCT:90448008", "medgen:355447"], "information_content": 100.0}
{"id": "NCBIGene:9694", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EMC2", "equivalent_identifiers": ["NCBIGene:9694", "ENSEMBL:ENSG00000104412", "HGNC:28963", "OMIM:607722", "UMLS:C1823539", "UniProtKB:Q15006", "PR:Q15006", "ENSEMBL:ENSP00000220853", "ENSEMBL:ENSP00000220853.3", "UMLS:C5226188", "MESH:C000655255"], "information_content": 92.8}
{"id": "MONDO:0008747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 3", "equivalent_identifiers": ["MONDO:0008747", "DOID:0070097", "OMIM:203290", "orphanet:79433", "UMLS:C0342683", "MESH:C537189", "MESH:C537731", "SNOMEDCT:63450009", "medgen:87450", "icd11.foundation:1565320806"], "information_content": 100.0}
{"id": "NCBIGene:2765", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GML", "equivalent_identifiers": ["NCBIGene:2765", "ENSEMBL:ENSG00000104499", "HGNC:4375", "OMIM:602370", "UMLS:C1415134", "UniProtKB:Q99445", "PR:Q99445", "ENSEMBL:ENSP00000220940", "ENSEMBL:ENSP00000220940.1", "UMLS:C1447462", "MESH:C102519"], "information_content": 100.0}
{"id": "MONDO:0009552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mal de Meleda", "equivalent_identifiers": ["MONDO:0009552", "DOID:0060862", "OMIM:248300", "orphanet:87503", "UMLS:C0025221", "SNOMEDCT:239069005", "medgen:7522", "icd11.foundation:1850911834"], "information_content": 100.0}
{"id": "NCBIGene:65263", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PYCR3", "equivalent_identifiers": ["NCBIGene:65263", "ENSEMBL:ENSG00000104524", "HGNC:25846", "OMIM:616408", "UMLS:C1428527", "UniProtKB:A0A0A0MQS1", "ENSEMBL:ENSP00000220966", "ENSEMBL:ENSP00000220966.6", "ENSEMBL:ENSP00000484458", "ENSEMBL:ENSP00000484458.1", "UniProtKB:B4DGI7", "UniProtKB:Q53H96", "PR:Q53H96"]}
{"id": "UniProtKB:Q96QG7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myotubularin-related protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QG7-1", "PR:Q96QG7-1", "ENSEMBL:ENSP00000221086", "ENSEMBL:ENSP00000221086.3", "ENSEMBL:ENSP00000495551", "ENSEMBL:ENSP00000495551.2"], "information_content": 100.0}
{"id": "MONDO:0010683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked myotubular myopathy", "equivalent_identifiers": ["MONDO:0010683", "DOID:0111225", "OMIM:310400", "orphanet:596", "UMLS:C0410203", "NCIT:C118781", "SNOMEDCT:46804001", "medgen:98374", "ICD10:G71.220"], "information_content": 92.8}
{"id": "MONDO:0019056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuromuscular disease", "equivalent_identifiers": ["MONDO:0019056", "DOID:440", "orphanet:68381", "EFO:1001902", "UMLS:C0027868", "MESH:D009468", "MEDDRA:10029316", "MEDDRA:10029317", "MEDDRA:10029323", "NCIT:C189005", "SNOMEDCT:255522009", "SNOMEDCT:257277002", "medgen:10323", "ICD10:G70.9", "ICD9:358"], "information_content": 54.8}
{"id": "MONDO:0014819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Robinow syndrome 3", "equivalent_identifiers": ["MONDO:0014819", "DOID:0060767", "OMIM:616894", "UMLS:C4225164", "medgen:907878"], "information_content": 100.0}
{"id": "NCBIGene:10671", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCTN6", "equivalent_identifiers": ["NCBIGene:10671", "ENSEMBL:ENSG00000104671", "HGNC:16964", "OMIM:612963", "UMLS:C1424666", "UniProtKB:O00399", "PR:O00399", "ENSEMBL:ENSP00000221114", "ENSEMBL:ENSP00000221114.3"], "information_content": 87.2}
{"id": "MONDO:0013644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2O", "equivalent_identifiers": ["MONDO:0013644", "DOID:0110175", "OMIM:614228", "orphanet:284232", "UMLS:C3280220", "SNOMEDCT:782829002", "medgen:481850"], "information_content": 100.0}
{"id": "MONDO:0030058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 77", "equivalent_identifiers": ["MONDO:0030058", "DOID:0112168", "OMIM:618915", "UMLS:C5394499", "medgen:1709284"], "information_content": 100.0}
{"id": "UniProtKB:P00390-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione reductase, mitochondrial isoform Mitochondrial (human)", "equivalent_identifiers": ["UniProtKB:P00390-1", "PR:P00390-1", "ENSEMBL:ENSP00000221130", "ENSEMBL:ENSP00000221130.5"], "information_content": 95.4}
{"id": "MONDO:0004573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ariboflavinosis", "equivalent_identifiers": ["MONDO:0004573", "DOID:8454", "OMIM:615026", "UMLS:C0035528", "UMLS:C5779638", "UMLS:C5886861", "MESH:D012257", "MEDDRA:10003095", "MEDDRA:10039118", "MEDDRA:10047612", "SNOMEDCT:20307000", "medgen:1830329", "ICD10:E53.0", "ICD9:266.0", "HP:0100504"], "information_content": 95.4}
{"id": "MONDO:0005775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "G6PD deficiency", "equivalent_identifiers": ["MONDO:0005775", "DOID:2862", "EFO:0007287", "UMLS:C0237987", "UMLS:C2939465", "MESH:D005955", "MEDDRA:10002050", "MEDDRA:10002288", "MEDDRA:10017567", "MEDDRA:10018444", "MEDDRA:10019497", "MEDDRA:10019498", "MEDDRA:10055196", "MEDDRA:10055728", "MEDDRA:10055729", "MEDDRA:10060358", "MEDDRA:10075677", "NCIT:C98933", "SNOMEDCT:124134002", "SNOMEDCT:62403005", "medgen:473706"], "information_content": 90.9}
{"id": "MONDO:0000241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Keshan disease", "equivalent_identifiers": ["MONDO:0000241", "DOID:0050083", "UMLS:C0268095", "MESH:C536166", "SNOMEDCT:46939000", "medgen:78639"], "information_content": 100.0}
{"id": "MONDO:0009259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gamma-glutamylcysteine synthetase deficiency", "equivalent_identifiers": ["MONDO:0009259", "DOID:0111681", "OMIM:230450", "orphanet:33574", "UMLS:C0268523", "UMLS:C1856603", "MESH:C565557", "SNOMEDCT:36799008", "medgen:347272"], "information_content": 100.0}
{"id": "NCBIGene:8797", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFRSF10A", "equivalent_identifiers": ["NCBIGene:8797", "ENSEMBL:ENSG00000104689", "HGNC:11904", "OMIM:603611", "UMLS:C1336643", "UniProtKB:O00220", "PR:O00220", "ENSEMBL:ENSP00000221132", "ENSEMBL:ENSP00000221132.3", "UMLS:C1504635", "MESH:C105190"], "information_content": 88.2}
{"id": "MONDO:0012819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetic ketoacidosis", "equivalent_identifiers": ["MONDO:0012819", "DOID:1837", "EFO:1000897", "UMLS:C0011880", "MESH:D016883", "MEDDRA:10000488", "MEDDRA:10012622", "MEDDRA:10012632", "MEDDRA:10012642", "MEDDRA:10012671", "MEDDRA:10012673", "MEDDRA:10023380", "NCIT:C50530", "SNOMEDCT:420422005", "medgen:8351", "ICD9:250.1", "HP:0001953"], "information_content": 95.4}
{"id": "MONDO:0009237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal epithelial hyperplasia", "equivalent_identifiers": ["MONDO:0009237", "DOID:5362", "OMIM:229045", "EFO:0007275", "UMLS:C0206067", "MESH:D017573", "MEDDRA:10076576", "MEDDRA:10076577", "NCIT:C97083", "SNOMEDCT:36949004", "SNOMEDCT:6121001", "medgen:60066"], "information_content": 100.0}
{"id": "NCBIGene:5516", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP2CB", "equivalent_identifiers": ["NCBIGene:5516", "ENSEMBL:ENSG00000104695", "HGNC:9300", "OMIM:176916", "UMLS:C1335242", "UniProtKB:A0A140VJS0", "UniProtKB:P62714", "PR:P62714", "ENSEMBL:ENSP00000221138", "ENSEMBL:ENSP00000221138.4", "UMLS:C1335540", "MESH:C517190"], "information_content": 83.1}
{"id": "UniProtKB:P07197-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurofilament medium polypeptide isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P07197-1", "PR:P07197-1", "ENSEMBL:ENSP00000221166", "ENSEMBL:ENSP00000221166.5"], "information_content": 100.0}
{"id": "NCBIGene:54793", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCTD9", "equivalent_identifiers": ["NCBIGene:54793", "ENSEMBL:ENSG00000104756", "HGNC:22401", "OMIM:617265", "UMLS:C1427768", "UniProtKB:Q7L273", "PR:Q7L273", "ENSEMBL:ENSP00000221200", "ENSEMBL:ENSP00000221200.4", "UMLS:C3657622", "MESH:C580589"], "information_content": 95.4}
{"id": "MONDO:0008404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scalp-ear-nipple syndrome", "equivalent_identifiers": ["MONDO:0008404", "DOID:0111550", "OMIM:181270", "orphanet:2036", "UMLS:C1867020", "MESH:C536623", "SNOMEDCT:721888002", "medgen:357183", "icd11.foundation:88843032"], "information_content": 100.0}
{"id": "NCBIGene:56915", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXOSC5", "equivalent_identifiers": ["NCBIGene:56915", "ENSEMBL:ENSG00000077348", "HGNC:24662", "OMIM:606492", "UMLS:C1428398", "UniProtKB:Q9NQT4", "PR:Q9NQT4", "ENSEMBL:ENSP00000221233", "ENSEMBL:ENSP00000221233.3", "UMLS:C1171936", "MESH:C467564"], "information_content": 88.2}
{"id": "MONDO:0044634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0044634", "DOID:0081175", "OMIM:617763", "orphanet:494439", "UMLS:C4540367", "medgen:1615526"], "information_content": 100.0}
{"id": "MONDO:0020135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia", "equivalent_identifiers": ["MONDO:0020135", "DOID:0060264", "OMIM.PS:607596", "orphanet:98523", "UMLS:C0266468", "UMLS:C1261175", "MESH:C580383", "SNOMEDCT:45163000", "medgen:224703", "icd11.foundation:1565266279"], "information_content": 77.6}
{"id": "MONDO:0005692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cat-scratch disease", "equivalent_identifiers": ["MONDO:0005692", "DOID:11258", "orphanet:50839", "EFO:0007195", "UMLS:C0007361", "MESH:D002372", "MEDDRA:10007729", "MEDDRA:10007730", "MEDDRA:10007731", "NCIT:C84620", "SNOMEDCT:79974007", "medgen:2861", "icd11.foundation:2003001085", "ICD10:A28.1", "ICD9:078.3"], "information_content": 100.0}
{"id": "MONDO:0019127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polymyositis", "equivalent_identifiers": ["MONDO:0019127", "DOID:0080745", "orphanet:732", "EFO:0003063", "UMLS:C0085655", "MESH:D017285", "MEDDRA:10036102", "NCIT:C26925", "SNOMEDCT:31384009", "medgen:39086", "icd11.foundation:1157134196"], "information_content": 81.7}
{"id": "UniProtKB:Q8N7H5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA polymerase II-associated factor 1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N7H5-1", "PR:Q8N7H5-1", "ENSEMBL:ENSP00000221265", "ENSEMBL:ENSP00000221265.2"], "information_content": 100.0}
{"id": "UniProtKB:Q08477-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 4F3 isoform hCYP4F3A (human)", "equivalent_identifiers": ["UniProtKB:Q08477-1", "PR:Q08477-1", "ENSEMBL:ENSP00000221307", "ENSEMBL:ENSP00000221307.6"], "information_content": 100.0}
{"id": "NCBIGene:7288", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TULP2", "equivalent_identifiers": ["NCBIGene:7288", "ENSEMBL:ENSG00000104804", "HGNC:12424", "OMIM:602309", "UMLS:C1421242", "UniProtKB:O00295", "PR:O00295", "ENSEMBL:ENSP00000221399", "ENSEMBL:ENSP00000221399.3", "UMLS:C1430748", "MESH:C105444"], "information_content": 100.0}
{"id": "NCBIGene:27294", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DHDH", "equivalent_identifiers": ["NCBIGene:27294", "ENSEMBL:ENSG00000104808", "HGNC:17887", "OMIM:606377", "UMLS:C1425156", "UniProtKB:Q9UQ10", "PR:Q9UQ10", "ENSEMBL:ENSP00000221403", "ENSEMBL:ENSP00000221403.2", "UMLS:C1432948"], "information_content": 100.0}
{"id": "NCBIGene:1891", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ECH1", "equivalent_identifiers": ["NCBIGene:1891", "ENSEMBL:ENSG00000104823", "HGNC:3149", "OMIM:600696", "UMLS:C1414246", "UniProtKB:A0A384MR44", "UMLS:C3500985", "UniProtKB:Q13011", "PR:Q13011", "ENSEMBL:ENSP00000221418", "ENSEMBL:ENSP00000221418.3", "ENSEMBL:ENSP00000489530", "ENSEMBL:ENSP00000489530.1"], "information_content": 92.8}
{"id": "UniProtKB:P14866-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P14866-1", "PR:P14866-1", "ENSEMBL:ENSP00000221419", "ENSEMBL:ENSP00000221419.4", "ENSEMBL:ENSP00000489021", "ENSEMBL:ENSP00000489021.1"], "information_content": 100.0}
{"id": "NCBIGene:3743", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNA7", "equivalent_identifiers": ["NCBIGene:3743", "ENSEMBL:ENSG00000104848", "HGNC:6226", "OMIM:176268", "UMLS:C1416550", "UniProtKB:Q96RP8", "PR:Q96RP8", "ENSEMBL:ENSP00000221444", "ENSEMBL:ENSP00000221444.1", "UMLS:C1432191", "MESH:C431140"], "information_content": 92.8}
{"id": "MONDO:0016227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic ataxia", "equivalent_identifiers": ["MONDO:0016227", "DOID:963", "OMIM.PS:160120", "orphanet:211062", "EFO:1000638", "UMLS:C1720189", "MESH:C580065", "MEDDRA:10067447", "SNOMEDCT:421455009", "medgen:314033", "icd11.foundation:423095680", "HP:0002131"], "information_content": 84.8}
{"id": "NCBIGene:5971", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RELB", "equivalent_identifiers": ["NCBIGene:5971", "ENSEMBL:ENSG00000104856", "HGNC:9956", "OMIM:604758", "UMLS:C1419336", "UniProtKB:D6R992", "ENSEMBL:ENSP00000423287", "ENSEMBL:ENSP00000423287.1", "UniProtKB:Q01201", "PR:Q01201", "ENSEMBL:ENSP00000221452", "ENSEMBL:ENSP00000221452.7", "UMLS:C1527584", "MESH:C497593"], "information_content": 95.4}
{"id": "UniProtKB:Q8N2M8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CLK4-associating serine/arginine rich protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2M8-1", "PR:Q8N2M8-1", "ENSEMBL:ENSP00000221455", "ENSEMBL:ENSP00000221455.3"], "information_content": 100.0}
{"id": "MONDO:0002870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tricuspid valve insufficiency", "equivalent_identifiers": ["MONDO:0002870", "DOID:4080", "UMLS:C0040961", "MESH:D014262", "MEDDRA:10044634", "MEDDRA:10044635", "MEDDRA:10044640", "MEDDRA:10049217", "NCIT:C50842", "NCIT:C50843", "SNOMEDCT:111287006", "medgen:11911", "icd11.foundation:770887951", "HP:0005180"], "information_content": 95.4}
{"id": "MONDO:0005997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tricuspid valve stenosis", "equivalent_identifiers": ["MONDO:0005997", "DOID:4078", "EFO:0007525", "UMLS:C0040963", "MESH:D014264", "MEDDRA:10044636", "MEDDRA:10044642", "NCIT:C50783", "SNOMEDCT:49915006", "medgen:21678", "icd11.foundation:442626161", "HP:0010446"], "information_content": 92.8}
{"id": "MONDO:0005439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypercholesterolemia", "equivalent_identifiers": ["MONDO:0005439", "DOID:13810", "OMIM.PS:143890", "EFO:0004911", "UMLS:C0020445", "UMLS:C0549399", "MESH:D006938", "MEDDRA:10017340", "MEDDRA:10017341", "MEDDRA:10021668", "MEDDRA:10024055", "MEDDRA:10024057", "MEDDRA:10024059", "MEDDRA:10024905", "MEDDRA:10024906", "MEDDRA:10024910", "MEDDRA:10037821", "MEDDRA:10045254", "MEDDRA:10045255", "MEDDRA:10045257", "MEDDRA:10045258", "MEDDRA:10049593", "MEDDRA:10054380", "MEDDRA:10060371", "MEDDRA:10060594", "MEDDRA:10064613", "MEDDRA:10064706", "NCIT:C34704", "SNOMEDCT:190773008", "medgen:5688", "ICD10:E78.01", "HP:0003141"], "information_content": 88.2}
{"id": "MONDO:0004922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental coordination disorder", "equivalent_identifiers": ["MONDO:0004922", "DOID:9923", "UMLS:C0011757", "UMLS:C0026613", "MESH:D019957", "MEDDRA:10012557", "MEDDRA:10012558", "MEDDRA:10012567", "NCIT:C92561", "SNOMEDCT:268674003", "SNOMEDCT:27544004", "SNOMEDCT:4949009", "medgen:41511", "ICD10:F82", "ICD9:315.4"], "information_content": 100.0}
{"id": "MONDO:0005852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitral stenosis", "equivalent_identifiers": ["MONDO:0005852", "DOID:1754", "EFO:0007372", "UMLS:C0026269", "MESH:D008946", "MEDDRA:10027719", "MEDDRA:10027733", "NCIT:C50654", "SNOMEDCT:79619009", "medgen:44466", "icd11.foundation:2115139779", "HP:0001718"], "information_content": 88.2}
{"id": "NCBIGene:1158", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CKM", "equivalent_identifiers": ["NCBIGene:1158", "ENSEMBL:ENSG00000104879", "HGNC:1994", "OMIM:123310", "UMLS:C1413435", "UniProtKB:B2R892", "UniProtKB:P06732", "PR:P06732", "ENSEMBL:ENSP00000221476", "ENSEMBL:ENSP00000221476.2", "UMLS:C5780724"], "information_content": 95.4}
{"id": "MONDO:0019790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroleptic malignant syndrome", "equivalent_identifiers": ["MONDO:0019790", "DOID:14464", "orphanet:94093", "EFO:1001379", "UMLS:C0027849", "MESH:D009459", "MEDDRA:10029281", "MEDDRA:10029282", "NCIT:C94829", "SNOMEDCT:15244003", "medgen:10320", "icd11.foundation:498240876", "ICD10:G21.0", "ICD9:333.92"], "information_content": 100.0}
{"id": "MONDO:0858910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dropped head syndrome", "equivalent_identifiers": ["MONDO:0858910", "DOID:0060034", "UMLS:C3266164", "MESH:D000094222", "MEDDRA:10072442", "SNOMEDCT:449899001", "medgen:757938"], "information_content": 100.0}
{"id": "MONDO:0004769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orbital pseudotumor", "equivalent_identifiers": ["MONDO:0004769", "DOID:9369", "EFO:1001077", "UMLS:C0085270", "MESH:D016727", "MEDDRA:10069692", "MEDDRA:10069693", "MEDDRA:10075997", "SNOMEDCT:72789009", "medgen:43140"], "information_content": 100.0}
{"id": "MONDO:0008224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperkalemic periodic paralysis", "equivalent_identifiers": ["MONDO:0008224", "DOID:14451", "OMIM:170500", "orphanet:682", "UMLS:C0238357", "UMLS:C1868433", "MESH:C566809", "MESH:D020513", "MEDDRA:10076439", "MEDDRA:10076440", "NCIT:C123429", "SNOMEDCT:304737009", "medgen:68665", "icd11.foundation:1308452752", "HP:0007215"], "information_content": 100.0}
{"id": "MONDO:0008497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stormorken syndrome", "equivalent_identifiers": ["MONDO:0008497", "DOID:0060354", "OMIM:185070", "orphanet:3204", "UMLS:C1861451", "MESH:C566108", "SNOMEDCT:711407000", "medgen:350028"], "information_content": 100.0}
{"id": "MONDO:0008475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylolisthesis", "equivalent_identifiers": ["MONDO:0008475", "DOID:6682", "OMIM:184200", "EFO:0007493", "UMLS:C0038016", "MESH:D013168", "MEDDRA:10049007", "MEDDRA:10063550", "NCIT:C35033", "SNOMEDCT:274152003", "medgen:52470", "icd11.foundation:1075039772", "ICD10:M43.1", "HP:0003302"], "information_content": 95.4}
{"id": "MONDO:0003393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thymus Disorder", "equivalent_identifiers": ["MONDO:0003393", "DOID:533", "UMLS:C0154199", "MEDDRA:10043677", "MEDDRA:10043678", "MEDDRA:10045760", "MEDDRA:10061381", "NCIT:C26962", "SNOMEDCT:20673009", "medgen:57585", "ICD10:E32", "ICD9:254"], "information_content": 68.5}
{"id": "MONDO:0005888", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ornithosis", "equivalent_identifiers": ["MONDO:0005888", "DOID:11262", "orphanet:660053", "EFO:0007410", "UMLS:C0029291", "MESH:D009956", "MEDDRA:10031088", "MEDDRA:10031092", "MEDDRA:10037151", "NCIT:C34873", "SNOMEDCT:75116005", "medgen:18198", "ICD10:A70", "ICD9:073"], "information_content": 100.0}
{"id": "MONDO:0010305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "creatine transporter deficiency", "equivalent_identifiers": ["MONDO:0010305", "DOID:0050800", "OMIM:300352", "orphanet:52503", "UMLS:C1845862", "MESH:C535598", "MEDDRA:10084842", "NCIT:C125665", "SNOMEDCT:698290008", "medgen:337451"], "information_content": 100.0}
{"id": "MONDO:0017410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porencephaly", "equivalent_identifiers": ["MONDO:0017410", "DOID:0060263", "orphanet:2940", "UMLS:C3698507", "UMLS:C4082172", "UMLS:C4082173", "MESH:D065708", "MEDDRA:10036170", "NCIT:C99020", "SNOMEDCT:65705009", "SNOMEDCT:698837003", "medgen:901502", "icd11.foundation:137059367", "ICD10:Q04.6", "HP:0002132"], "information_content": 88.2}
{"id": "UniProtKB:Q96HA9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal membrane protein 11C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HA9-1", "PR:Q96HA9-1", "ENSEMBL:ENSP00000221480", "ENSEMBL:ENSP00000221480.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2U7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vesicular glutamate transporter 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2U7-1", "PR:Q9P2U7-1", "ENSEMBL:ENSP00000221485", "ENSEMBL:ENSP00000221485.2"], "information_content": 100.0}
{"id": "NCBIGene:10535", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNASEH2A", "equivalent_identifiers": ["NCBIGene:10535", "ENSEMBL:ENSG00000104889", "HGNC:18518", "OMIM:606034", "UMLS:C1425573", "UniProtKB:O75792", "PR:O75792", "ENSEMBL:ENSP00000221486", "ENSEMBL:ENSP00000221486.4", "UMLS:C1434478"], "information_content": 92.8}
{"id": "MONDO:0014405", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "STING-associated vasculopathy with onset in infancy", "equivalent_identifiers": ["MONDO:0014405", "DOID:0111457", "OMIM:615934", "orphanet:425120", "UMLS:C4014722", "MEDDRA:10088833", "MEDDRA:10088872", "NCIT:C177547", "SNOMEDCT:711164003", "medgen:863159"], "information_content": 100.0}
{"id": "MONDO:0014629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune interstitial lung disease-arthritis syndrome", "equivalent_identifiers": ["MONDO:0014629", "DOID:0081242", "OMIM:616414", "orphanet:444092", "UMLS:C5243948", "UMLS:C5975714", "MEDDRA:10083948", "SNOMEDCT:1222679006", "medgen:1800821"], "information_content": 100.0}
{"id": "MONDO:0032848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 65, susceptibility to viral infections", "equivalent_identifiers": ["MONDO:0032848", "DOID:0111978", "OMIM:618648", "UMLS:C5231441", "medgen:1684865"], "information_content": 100.0}
{"id": "MONDO:0013956", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency", "equivalent_identifiers": ["MONDO:0013956", "DOID:0111945", "OMIM:614892", "orphanet:319595", "UMLS:C4013950", "medgen:862387"], "information_content": 100.0}
{"id": "MONDO:0011776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CINCA syndrome", "equivalent_identifiers": ["MONDO:0011776", "DOID:0090029", "OMIM:607115", "orphanet:1451", "UMLS:C0409818", "MEDDRA:10064568", "MEDDRA:10064572", "MEDDRA:10064573", "MEDDRA:10064574", "NCIT:C116380", "SNOMEDCT:239826001", "medgen:98370"], "information_content": 100.0}
{"id": "NCBIGene:8175", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SF3A2", "equivalent_identifiers": ["NCBIGene:8175", "ENSEMBL:ENSG00000104897", "HGNC:10766", "OMIM:600796", "UMLS:C1419978", "UniProtKB:Q05DF2", "UMLS:C0247306", "MESH:C083433", "UniProtKB:Q15428", "PR:Q15428", "ENSEMBL:ENSP00000221494", "ENSEMBL:ENSP00000221494.3"], "information_content": 100.0}
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{"id": "MONDO:0011972", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian hyperstimulation syndrome", "equivalent_identifiers": ["MONDO:0011972", "DOID:5425", "OMIM:608115", "orphanet:64739", "UMLS:C0085083", "UMLS:C3494162", "MESH:D016471", "MEDDRA:10033266", "SNOMEDCT:129635004", "medgen:38966", "icd11.foundation:1216664013"], "information_content": 100.0}
{"id": "MONDO:0009857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "persistent Mullerian duct syndrome", "equivalent_identifiers": ["MONDO:0009857", "DOID:0050791", "OMIM:261550", "orphanet:2856", "UMLS:C1849930", "MESH:C536665", "MEDDRA:10081352", "NCIT:C120188", "SNOMEDCT:702358005", "medgen:342367", "icd11.foundation:697796373"], "information_content": 92.8}
{"id": "MONDO:0006877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oophoritis", "equivalent_identifiers": ["MONDO:0006877", "DOID:10974", "EFO:1001071", "UMLS:C0029051", "MESH:D009869", "MEDDRA:10030345", "MEDDRA:10074952", "SNOMEDCT:76047005", "medgen:14486", "ICD10:N70.92", "HP:0031259"], "information_content": 88.2}
{"id": "MONDO:0019155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leydig cell hypoplasia", "equivalent_identifiers": ["MONDO:0019155", "DOID:0112259", "orphanet:755", "UMLS:C0860158", "UMLS:C4023702", "MESH:C562567", "MEDDRA:10024406", "medgen:449533", "icd11.foundation:472787488", "HP:0010790"], "information_content": 89.4}
{"id": "MONDO:0007035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acanthosis nigricans", "equivalent_identifiers": ["MONDO:0007035", "DOID:3138", "EFO:1000660", "UMLS:C0000889", "UMLS:C0392440", "MESH:D000052", "MEDDRA:10000350", "MEDDRA:10000530", "NCIT:C26687", "SNOMEDCT:402599005", "SNOMEDCT:72129000", "medgen:54", "icd11.foundation:71488193", "ICD10:L83", "HP:0000956"], "information_content": 92.8}
{"id": "MONDO:0004185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian serous cystadenofibroma", "equivalent_identifiers": ["MONDO:0004185", "DOID:7320", "UMLS:C0877572", "MEDDRA:10049686", "NCIT:C40032", "medgen:167919"], "information_content": 100.0}
{"id": "MONDO:0008682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Denys-Drash syndrome", "equivalent_identifiers": ["MONDO:0008682", "DOID:3764", "OMIM:194080", "orphanet:220", "UMLS:C0950121", "MESH:D030321", "MEDDRA:10070179", "NCIT:C84668", "SNOMEDCT:236385009", "medgen:181980", "icd11.foundation:904981302"], "information_content": 90.9}
{"id": "MONDO:0004387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "luteoma", "equivalent_identifiers": ["MONDO:0004387", "DOID:7880", "EFO:1000434", "UMLS:C0024167", "UMLS:C0334209", "UMLS:C1517842", "MESH:D018311", "NCIT:C3202", "NCIT:C40445", "SNOMEDCT:26372004", "SNOMEDCT:3645005", "medgen:137726"], "information_content": 100.0}
{"id": "MONDO:0009916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "equivalent_identifiers": ["MONDO:0009916", "DOID:0112248", "OMIM:264300", "orphanet:752", "UMLS:C0268296", "UMLS:C1849695", "UMLS:C4694050", "MESH:C537805", "MESH:C564868", "NCIT:C120203", "SNOMEDCT:50658006", "medgen:120626", "icd11.foundation:887793448"], "information_content": 100.0}
{"id": "NCBIGene:27120", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DKKL1", "equivalent_identifiers": ["NCBIGene:27120", "ENSEMBL:ENSG00000104901", "HGNC:16528", "OMIM:605418", "UMLS:C1539292", "UniProtKB:A0A140VK15", "UMLS:C3658152", "MESH:C577596", "UniProtKB:Q9UK85", "PR:Q9UK85", "ENSEMBL:ENSP00000221498", "ENSEMBL:ENSP00000221498.1"], "information_content": 100.0}
{"id": "MONDO:0006519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rectal cancer", "equivalent_identifiers": ["MONDO:0006519", "DOID:1993", "EFO:1000657", "UMLS:C0949022", "MEDDRA:10026418", "NCIT:C7418", "SNOMEDCT:363351006", "medgen:181763", "ICD10:C20", "ICD9:154.1"], "information_content": 70.8}
{"id": "MONDO:0002165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rectal neoplasm", "equivalent_identifiers": ["MONDO:0002165", "DOID:1984", "UMLS:C0034885", "MESH:D012004", "MEDDRA:10038071", "MEDDRA:10062099", "NCIT:C3350", "SNOMEDCT:126847008", "medgen:11148", "HP:0100743"], "information_content": 69.0}
{"id": "MONDO:0007576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal cancer", "equivalent_identifiers": ["MONDO:0007576", "DOID:5041", "OMIM:133239", "UMLS:C0153413", "UMLS:C0153414", "UMLS:C0153415", "UMLS:C0153416", "UMLS:C0345779", "UMLS:C0546837", "UMLS:C2751126", "UMLS:C3149254", "UMLS:C3149255", "MEDDRA:10015362", "MEDDRA:10015363", "MEDDRA:10025899", "MEDDRA:10025900", "MEDDRA:10025901", "MEDDRA:10026104", "MEDDRA:10026105", "MEDDRA:10026150", "MEDDRA:10026151", "MEDDRA:10026180", "MEDDRA:10026181", "MEDDRA:10026182", "MEDDRA:10026583", "MEDDRA:10026584", "MEDDRA:10030151", "MEDDRA:10030152", "MEDDRA:10030176", "NCIT:C3533", "NCIT:C3534", "NCIT:C3535", "NCIT:C7478", "SNOMEDCT:187725002", "SNOMEDCT:187726001", "SNOMEDCT:187727005", "SNOMEDCT:254547001", "SNOMEDCT:363402007", "medgen:107792", "ICD10:C15.3", "ICD10:C15.4", "ICD10:C15.5", "ICD9:150.2", "ICD9:150.3", "ICD9:150.4", "ICD9:150.5", "ICD9:150.8"], "information_content": 64.8}
{"id": "UniProtKB:Q9HD89-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "resistin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HD89-1", "PR:Q9HD89-1", "ENSEMBL:ENSP00000221515", "ENSEMBL:ENSP00000221515.1"], "information_content": 100.0}
{"id": "MONDO:0013991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity due to congenital leptin deficiency", "equivalent_identifiers": ["MONDO:0013991", "DOID:0111334", "OMIM:614962", "orphanet:66628", "UMLS:C3554224", "MEDDRA:10087061", "NCIT:C120384", "SNOMEDCT:700150001", "medgen:767138", "icd11.foundation:591009309"], "information_content": 100.0}
{"id": "MONDO:0007690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aromatase excess syndrome", "equivalent_identifiers": ["MONDO:0007690", "DOID:0090122", "OMIM:139300", "orphanet:178345", "UMLS:C1970109", "MESH:C000591739", "SNOMEDCT:709075008", "medgen:409989", "icd11.foundation:191989744", "ICD10:E30.1"], "information_content": 100.0}
{"id": "NCBIGene:81492", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RSPH6A", "equivalent_identifiers": ["NCBIGene:81492", "ENSEMBL:ENSG00000104941", "HGNC:14241", "OMIM:607548", "UMLS:C1422503", "UniProtKB:Q9H0K4", "PR:Q9H0K4", "ENSEMBL:ENSP00000221538", "ENSEMBL:ENSP00000221538.2", "UMLS:C1312659", "MESH:C423968"], "information_content": 100.0}
{"id": "MONDO:0008056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myotonic dystrophy type 1", "equivalent_identifiers": ["MONDO:0008056", "DOID:11722", "OMIM:160900", "orphanet:273", "UMLS:C3250443", "MEDDRA:10090453", "NCIT:C84679", "SNOMEDCT:77956009", "medgen:886881", "icd11.foundation:557405480", "ICD10:G71.11", "ICD9:359.21"], "information_content": 95.4}
{"id": "MONDO:0010725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked retinoschisis", "equivalent_identifiers": ["MONDO:0010725", "DOID:0060763", "OMIM:312700", "orphanet:792", "UMLS:C0271091", "UMLS:C3714753", "NCIT:C75483", "SNOMEDCT:86923008", "medgen:811458", "icd11.foundation:2074506458", "ICD10:Q14.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HA65-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HA65-1", "PR:Q9HA65-1", "ENSEMBL:ENSP00000221543", "ENSEMBL:ENSP00000221543.4"], "information_content": 100.0}
{"id": "UniProtKB:Q08117-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TLE family member 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q08117-2", "PR:Q08117-2", "ENSEMBL:ENSP00000221561", "ENSEMBL:ENSP00000221561.7"], "information_content": 100.0}
{"id": "NCBIGene:6449", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SGTA", "equivalent_identifiers": ["NCBIGene:6449", "ENSEMBL:ENSG00000104969", "HGNC:10819", "OMIM:603419", "UMLS:C1420016", "UniProtKB:O43765", "PR:O43765", "ENSEMBL:ENSP00000221566", "ENSEMBL:ENSP00000221566.1", "ENSEMBL:ENSP00000503397", "ENSEMBL:ENSP00000503397.1", "ENSEMBL:ENSP00000504495", "ENSEMBL:ENSP00000504495.1", "UMLS:C0757721", "MESH:C114575"], "information_content": 92.8}
{"id": "UniProtKB:Q9H6X5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C19orf44 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6X5-1", "PR:Q9H6X5-1", "ENSEMBL:ENSP00000221671", "ENSEMBL:ENSP00000221671.2"], "information_content": 100.0}
{"id": "MONDO:0011579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "late-onset retinal degeneration", "equivalent_identifiers": ["MONDO:0011579", "DOID:0060869", "OMIM:605670", "orphanet:67042", "UMLS:C1854065", "MESH:C565309", "NCIT:C202070", "SNOMEDCT:719431007", "medgen:344198"], "information_content": 100.0}
{"id": "UniProtKB:P78329-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 4F2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78329-1", "PR:P78329-1", "ENSEMBL:ENSP00000221700", "ENSEMBL:ENSP00000221700.3"], "information_content": 100.0}
{"id": "NCBIGene:79852", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPHX3", "equivalent_identifiers": ["NCBIGene:79852", "ENSEMBL:ENSG00000105131", "HGNC:23760", "OMIM:617400", "UMLS:C1428244", "UniProtKB:Q9H6B9", "PR:Q9H6B9", "ENSEMBL:ENSP00000221730", "ENSEMBL:ENSP00000221730.2", "ENSEMBL:ENSP00000410323", "ENSEMBL:ENSP00000410323.1", "ENSEMBL:ENSP00000469345", "ENSEMBL:ENSP00000469345.1", "UMLS:C3660813", "MESH:C577760"], "information_content": 100.0}
{"id": "UniProtKB:P48664-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "excitatory amino acid transporter 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48664-1", "PR:P48664-1", "ENSEMBL:ENSP00000221742", "ENSEMBL:ENSP00000221742.3", "ENSEMBL:ENSP00000472133", "ENSEMBL:ENSP00000472133.2"], "information_content": 100.0}
{"id": "MONDO:0009110", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dicarboxylic aminoaciduria", "equivalent_identifiers": ["MONDO:0009110", "DOID:0060650", "OMIM:222730", "orphanet:2195", "UMLS:C1857253", "MESH:C536171", "SNOMEDCT:716747007", "medgen:387782", "icd11.foundation:1947265216"], "information_content": 100.0}
{"id": "NCBIGene:29124", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LGALS13", "equivalent_identifiers": ["NCBIGene:29124", "ENSEMBL:ENSG00000105198", "HGNC:15449", "OMIM:608717", "UMLS:C1423495", "UniProtKB:Q9UHV8", "PR:Q9UHV8", "ENSEMBL:ENSP00000221797", "ENSEMBL:ENSP00000221797.3", "UMLS:C1571454", "MESH:C038195"], "information_content": 100.0}
{"id": "MONDO:0003634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proteinuria", "equivalent_identifiers": ["MONDO:0003634", "DOID:576", "UMLS:C0033687", "MESH:D011507", "MEDDRA:10037020", "MEDDRA:10037032", "MEDDRA:10046554", "NCIT:C38012", "SNOMEDCT:29738008", "medgen:10976", "icd11.foundation:930895737", "ICD10:R80", "ICD9:791.0", "HP:0000093"], "information_content": 73.4}
{"id": "MONDO:0009934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alveolar capillary dysplasia with misalignment of pulmonary veins", "equivalent_identifiers": ["MONDO:0009934", "DOID:13042", "OMIM:265380", "orphanet:210122", "UMLS:C2677362", "UMLS:C2960310", "MESH:C536590", "MEDDRA:10077023", "NCIT:C98809", "SNOMEDCT:447275002", "SNOMEDCT:708028001", "medgen:755478", "ICD10:P29.3", "ICD9:747.83", "HP:0033208"], "information_content": 100.0}
{"id": "NCBIGene:2091", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBL", "equivalent_identifiers": ["NCBIGene:2091", "ENSEMBL:ENSG00000105202", "HGNC:3599", "OMIM:134795", "UMLS:C1414538", "UniProtKB:P22087", "PR:P22087", "ENSEMBL:ENSP00000221801", "ENSEMBL:ENSP00000221801.2", "ENSEMBL:ENSP00000487390", "ENSEMBL:ENSP00000487390.1"], "information_content": 95.4}
{"id": "MONDO:0019563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CREST syndrome", "equivalent_identifiers": ["MONDO:0019563", "DOID:0060218", "UMLS:C0206138", "UMLS:C1527226", "MESH:D017675", "MEDDRA:10011380", "MEDDRA:10011420", "NCIT:C70646", "SNOMEDCT:31848007", "SNOMEDCT:62382002", "medgen:60083", "ICD10:M34.1"], "information_content": 100.0}
{"id": "NCBIGene:1178", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLC", "equivalent_identifiers": ["NCBIGene:1178", "ENSEMBL:ENSG00000105205", "HGNC:2014", "OMIM:153310", "UMLS:C1332765", "UniProtKB:Q05315", "PR:Q05315", "ENSEMBL:ENSP00000221804", "ENSEMBL:ENSP00000221804.3", "UMLS:C1615557"], "information_content": 90.9}
{"id": "MONDO:0010363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 91", "equivalent_identifiers": ["MONDO:0010363", "DOID:0112043", "OMIM:300577", "UMLS:C1845142", "MESH:C564482", "medgen:375592"], "information_content": 100.0}
{"id": "MONDO:0010660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 9", "equivalent_identifiers": ["MONDO:0010660", "DOID:0112034", "OMIM:309549", "UMLS:C0796215", "MESH:C563137", "medgen:167112"], "information_content": 100.0}
{"id": "MONDO:0002840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophilic gastritis", "equivalent_identifiers": ["MONDO:0002840", "DOID:4030", "UMLS:C0267154", "MEDDRA:10083619", "NCIT:C27052", "SNOMEDCT:66329006", "medgen:120598", "icd11.foundation:1944772274", "ICD9:535.7", "HP:0410147"], "information_content": 100.0}
{"id": "MONDO:0009261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GM1 gangliosidosis type 2", "equivalent_identifiers": ["MONDO:0009261", "DOID:0080501", "OMIM:230600", "orphanet:79256", "UMLS:C0268272", "UMLS:C1968746", "MESH:C566893", "SNOMEDCT:18756002", "medgen:120625", "icd11.foundation:1132250614"], "information_content": 100.0}
{"id": "MONDO:0016129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophilic gastroenteritis", "equivalent_identifiers": ["MONDO:0016129", "DOID:4031", "orphanet:2070", "UMLS:C1262481", "MEDDRA:10017902", "NCIT:C35330", "SNOMEDCT:359804008", "medgen:220382", "ICD9:558.41", "HP:0032064"], "information_content": 87.2}
{"id": "NCBIGene:10148", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EBI3", "equivalent_identifiers": ["NCBIGene:10148", "ENSEMBL:ENSG00000105246", "HGNC:3129", "OMIM:605816", "UMLS:C1414234", "UniProtKB:Q14213", "PR:Q14213", "ENSEMBL:ENSP00000221847", "ENSEMBL:ENSP00000221847.4", "UMLS:C0385988", "MESH:C097732"], "information_content": 87.2}
{"id": "UniProtKB:Q99426-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin-folding cofactor B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99426-1", "PR:Q99426-1", "ENSEMBL:ENSP00000221855", "ENSEMBL:ENSP00000221855.3"], "information_content": 100.0}
{"id": "MONDO:0009426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoparathyroidism-retardation-dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0009426", "DOID:0060348", "OMIM:241410", "orphanet:2323", "UMLS:C1855840", "MESH:C537157", "NCIT:C133727", "SNOMEDCT:1197148005", "medgen:340984"], "information_content": 100.0}
{"id": "MONDO:0016516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kenny-Caffey syndrome", "equivalent_identifiers": ["MONDO:0016516", "DOID:0080724", "OMIM.PS:127000", "orphanet:2333", "UMLS:C0265291", "MESH:C537020", "MEDDRA:10073228", "NCIT:C130991", "SNOMEDCT:82837002", "medgen:75560"], "information_content": 92.8}
{"id": "MONDO:0001328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid hormone resistance syndrome", "equivalent_identifiers": ["MONDO:0001328", "DOID:11633", "UMLS:C2940786", "UMLS:C5779944", "MESH:D018382", "MEDDRA:10090554", "SNOMEDCT:111567006", "SNOMEDCT:237559000", "SNOMEDCT:237560005", "SNOMEDCT:50375007", "medgen:424854", "HP:0002930"], "information_content": 84.2}
{"id": "NCBIGene:79187", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FSD1", "equivalent_identifiers": ["NCBIGene:79187", "ENSEMBL:ENSG00000105255", "HGNC:13745", "OMIM:609828", "UMLS:C1422180", "UniProtKB:M0R366", "ENSEMBL:ENSP00000473022", "ENSEMBL:ENSP00000473022.1", "UMLS:C1312610", "MESH:C429034", "UniProtKB:Q9BTV5", "PR:Q9BTV5", "ENSEMBL:ENSP00000221856", "ENSEMBL:ENSP00000221856.5"], "information_content": 95.4}
{"id": "MONDO:0014959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant", "equivalent_identifiers": ["MONDO:0014959", "DOID:0080130", "OMIM:617184", "UMLS:C4310676", "medgen:934643"], "information_content": 100.0}
{"id": "NCBIGene:5438", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR2I", "equivalent_identifiers": ["NCBIGene:5438", "ENSEMBL:ENSG00000105258", "HGNC:9196", "OMIM:180662", "UMLS:C1418747", "UniProtKB:P36954", "PR:P36954", "ENSEMBL:ENSP00000221859", "ENSEMBL:ENSP00000221859.3"], "information_content": 92.8}
{"id": "MONDO:0014423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to DNA-PKcs deficiency", "equivalent_identifiers": ["MONDO:0014423", "DOID:0111961", "OMIM:615966", "orphanet:317425", "UMLS:C4014833", "UMLS:C4274221", "NCIT:C176795", "SNOMEDCT:716871006", "medgen:863270"], "information_content": 100.0}
{"id": "UniProtKB:P51693-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amyloid beta precursor like protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51693-2", "PR:P51693-2", "ENSEMBL:ENSP00000221891", "ENSEMBL:ENSP00000221891.4"], "information_content": 100.0}
{"id": "MONDO:0001166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephritis", "equivalent_identifiers": ["MONDO:0001166", "DOID:10952", "EFO:1002050", "UMLS:C0027697", "MESH:D009393", "MEDDRA:10029117", "MEDDRA:10029138", "NCIT:C26833", "SNOMEDCT:52845002", "medgen:14328", "ICD10:N08", "HP:0000123"], "information_content": 71.9}
{"id": "MONDO:0004976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis", "equivalent_identifiers": ["MONDO:0004976", "DOID:332", "orphanet:803", "UMLS:C0002736", "MESH:D000690", "MEDDRA:10002026", "MEDDRA:10052889", "MEDDRA:10090869", "NCIT:C34373", "SNOMEDCT:86044005", "medgen:274", "icd11.foundation:1982355687", "ICD10:G12.21", "ICD9:335.20", "KEGG.DISEASE:05014", "HP:0007354"], "information_content": 74.9}
{"id": "MONDO:0007803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple system atrophy", "equivalent_identifiers": ["MONDO:0007803", "DOID:4752", "orphanet:102", "EFO:1001050", "UMLS:C0037019", "UMLS:C0393571", "MESH:D012791", "MESH:D019578", "MEDDRA:10003836", "MEDDRA:10036799", "MEDDRA:10040623", "MEDDRA:10064060", "NCIT:C84909", "SNOMEDCT:230297002", "medgen:98276", "icd11.foundation:1890931931"], "information_content": 83.6}
{"id": "NCBIGene:26093", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC9", "equivalent_identifiers": ["NCBIGene:26093", "ENSEMBL:ENSG00000105321", "HGNC:24560", "UMLS:C1428385", "UniProtKB:A0A2R8Y4Z8", "ENSEMBL:ENSP00000494410", "ENSEMBL:ENSP00000494410.1", "UniProtKB:B4DXW2", "UMLS:C5391848", "MESH:C000707889", "UniProtKB:Q9Y3X0", "PR:Q9Y3X0", "ENSEMBL:ENSP00000221922", "ENSEMBL:ENSP00000221922.5"], "information_content": 100.0}
{"id": "NCBIGene:7040", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGFB1", "equivalent_identifiers": ["NCBIGene:7040", "ENSEMBL:ENSG00000105329", "HGNC:11766", "OMIM:190180", "UMLS:C1366557", "UniProtKB:A0A499FJK2", "UniProtKB:P01137", "PR:P01137", "ENSEMBL:ENSP00000221930", "ENSEMBL:ENSP00000221930.4", "UMLS:C0080222", "MESH:C508960"], "information_content": 76.7}
{"id": "MONDO:0002289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iris disorder", "equivalent_identifiers": ["MONDO:0002289", "DOID:240", "UMLS:C0022078", "MESH:D007499", "MEDDRA:10022950", "MEDDRA:10061254", "MEDDRA:10068847", "NCIT:C34737", "SNOMEDCT:85478004", "medgen:9556"], "information_content": 75.2}
{"id": "MONDO:0002568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tracheal stenosis", "equivalent_identifiers": ["MONDO:0002568", "DOID:3227", "UMLS:C0040583", "MESH:D014135", "MEDDRA:10050816", "NCIT:C78646", "SNOMEDCT:11296007", "medgen:21227", "HP:0002777"], "information_content": 92.8}
{"id": "MONDO:0001268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gingival recession", "equivalent_identifiers": ["MONDO:0001268", "DOID:1134", "UMLS:C0017572", "UMLS:C0266916", "MESH:D005889", "MEDDRA:10018290", "MEDDRA:10065160", "MEDDRA:10087929", "NCIT:C82068", "SNOMEDCT:4356008", "SNOMEDCT:59898000", "medgen:6607", "icd11.foundation:1059404242", "ICD10:K06.0", "ICD10:K06.01", "ICD9:523.2", "ICD9:523.24", "HP:0030816"], "information_content": 100.0}
{"id": "MONDO:0017178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteochondritis", "equivalent_identifiers": ["MONDO:0017178", "DOID:84", "orphanet:2764", "UMLS:C0029420", "UMLS:C0029421", "MESH:D010007", "MESH:D010008", "MEDDRA:10031230", "MEDDRA:10031231", "NCIT:C34877", "NCIT:C34878", "SNOMEDCT:70736000", "SNOMEDCT:82562007", "medgen:10494", "icd11.foundation:467851106", "ICD10:M93.2", "ICD9:732.7", "HP:0010886"], "information_content": 95.4}
{"id": "DOID:0111543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome", "equivalent_identifiers": ["DOID:0111543"]}
{"id": "MONDO:0015998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectopia Lentis", "equivalent_identifiers": ["MONDO:0015998", "DOID:0111148", "orphanet:1885", "UMLS:C0013581", "UMLS:C0023309", "UMLS:C1851286", "UMLS:C2746069", "MESH:C536184", "MESH:D004479", "MEDDRA:10010454", "MEDDRA:10013152", "MEDDRA:10014145", "MEDDRA:10024203", "NCIT:C118864", "NCIT:C125484", "NCIT:C34566", "SNOMEDCT:74969002", "medgen:342716", "ICD10:Q12.1", "ICD9:743.37", "HP:0001083"], "information_content": 89.4}
{"id": "MONDO:0007072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ADULT syndrome", "equivalent_identifiers": ["MONDO:0007072", "DOID:0050601", "OMIM:103285", "orphanet:978", "UMLS:C1863204", "MESH:C538052", "SNOMEDCT:720464003", "medgen:400232", "icd11.foundation:1445741645"], "information_content": 100.0}
{"id": "NCBIGene:1089", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEACAM4", "equivalent_identifiers": ["NCBIGene:1089", "ENSEMBL:ENSG00000105352", "HGNC:1816", "OMIM:619159", "UMLS:C1413308", "UniProtKB:A0A077JIU5", "UniProtKB:A0A077JJN3", "UniProtKB:O75871", "PR:O75871", "ENSEMBL:ENSP00000221954", "ENSEMBL:ENSP00000221954.2", "ENSEMBL:ENSP00000481247", "ENSEMBL:ENSP00000481247.1", "UMLS:C4042228"], "information_content": 100.0}
{"id": "UniProtKB:O60664-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "perilipin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60664-1", "PR:O60664-1", "ENSEMBL:ENSP00000221957", "ENSEMBL:ENSP00000221957.3"], "information_content": 100.0}
{"id": "UniProtKB:P11912-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-cell antigen receptor complex-associated protein alpha chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11912-1", "PR:P11912-1", "ENSEMBL:ENSP00000221972", "ENSEMBL:ENSP00000221972.3"], "information_content": 100.0}
{"id": "MONDO:0019464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heavy chain disease", "equivalent_identifiers": ["MONDO:0019464", "DOID:0060125", "orphanet:86864", "EFO:1001341", "UMLS:C0018852", "MESH:D006362", "MEDDRA:10019350", "NCIT:C3082", "SNOMEDCT:6381009", "SNOMEDCT:68979007", "medgen:5469", "ICD10:C88.2"], "information_content": 88.2}
{"id": "UniProtKB:P55344-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lens fiber membrane intrinsic protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P55344-2", "PR:P55344-2", "ENSEMBL:ENSP00000221973", "ENSEMBL:ENSP00000221973.2"], "information_content": 100.0}
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{"id": "UniProtKB:P06731-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell adhesion molecule CEACAM5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P06731-1", "PR:P06731-1", "ENSEMBL:ENSP00000221992", "ENSEMBL:ENSP00000221992.5", "ENSEMBL:ENSP00000385072", "ENSEMBL:ENSP00000385072.1", "ENSEMBL:ENSP00000482303", "ENSEMBL:ENSP00000482303.1"], "information_content": 100.0}
{"id": "MONDO:0003155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cavernous hemangioma", "equivalent_identifiers": ["MONDO:0003155", "DOID:483", "EFO:1000151", "UMLS:C0018920", "UMLS:C1959589", "MESH:D006392", "MEDDRA:10019390", "MEDDRA:10055899", "MEDDRA:10071746", "NCIT:C3086", "SNOMEDCT:33377007", "SNOMEDCT:416824008", "medgen:9184", "HP:0001048"], "information_content": 83.6}
{"id": "NCBIGene:1406", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRX", "equivalent_identifiers": ["NCBIGene:1406", "ENSEMBL:ENSG00000105392", "HGNC:2383", "OMIM:602225", "UMLS:C1413723", "UniProtKB:O43186", "PR:O43186", "ENSEMBL:ENSP00000221996", "ENSEMBL:ENSP00000221996.5", "UMLS:C1742115"], "information_content": 95.4}
{"id": "MONDO:0017842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senior-Loken syndrome", "equivalent_identifiers": ["MONDO:0017842", "DOID:0050576", "OMIM.PS:266900", "orphanet:3156", "UMLS:C0403553", "MESH:C537580", "MEDDRA:10084074", "NCIT:C168588", "medgen:96045", "icd11.foundation:1975732692", "ICD10:Q61.5"], "information_content": 84.8}
{"id": "MONDO:0009796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gyrate atrophy", "equivalent_identifiers": ["MONDO:0009796", "DOID:1415", "OMIM:258870", "orphanet:414", "UMLS:C0018425", "UMLS:C0599035", "MESH:D015799", "MEDDRA:10087243", "NCIT:C84744", "SNOMEDCT:276426004", "SNOMEDCT:314467007", "SNOMEDCT:33985005", "medgen:6695", "HP:0012026"], "information_content": 95.4}
{"id": "MONDO:0008246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pigmented paravenous retinochoroidal atrophy", "equivalent_identifiers": ["MONDO:0008246", "DOID:0111541", "OMIM:172870", "orphanet:251295", "UMLS:C1868310", "MESH:C566801", "SNOMEDCT:723450004", "medgen:401413", "icd11.foundation:1278139412"], "information_content": 100.0}
{"id": "MONDO:0019516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exudative vitreoretinopathy", "equivalent_identifiers": ["MONDO:0019516", "DOID:0050535", "OMIM.PS:133780", "orphanet:891", "UMLS:C0004608", "UMLS:C0339539", "MESH:C580083", "MESH:D000080345", "MEDDRA:10003996", "MEDDRA:10038924", "SNOMEDCT:232063007", "medgen:573220", "ICD10:H35.00", "ICD9:362.10"], "information_content": 81.7}
{"id": "MONDO:0008767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 3", "equivalent_identifiers": ["MONDO:0008767", "DOID:0110731", "OMIM:204200", "orphanet:228346", "UMLS:C0751383", "MEDDRA:10052073", "MEDDRA:10052082", "MEDDRA:10054968", "MEDDRA:10054985", "NCIT:C61258", "medgen:155549"], "information_content": 100.0}
{"id": "MONDO:0008763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alstrom syndrome", "equivalent_identifiers": ["MONDO:0008763", "DOID:0050473", "OMIM:203800", "orphanet:64", "UMLS:C0268425", "MESH:D056769", "MEDDRA:10068783", "MEDDRA:10068814", "NCIT:C84549", "SNOMEDCT:63702009", "medgen:78675"], "information_content": 100.0}
{"id": "NCBIGene:6822", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SULT2A1", "equivalent_identifiers": ["NCBIGene:6822", "ENSEMBL:ENSG00000105398", "HGNC:11458", "OMIM:125263", "UMLS:C1420519", "UniProtKB:A8K015", "UMLS:C1743685", "UniProtKB:Q06520", "PR:Q06520", "ENSEMBL:ENSP00000222002", "ENSEMBL:ENSP00000222002.2"], "information_content": 88.2}
{"id": "MONDO:0000193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortisone reductase deficiency", "equivalent_identifiers": ["MONDO:0000193", "DOID:0090139", "OMIM.PS:604931", "orphanet:168588", "UMLS:C1291245", "MESH:C536447", "SNOMEDCT:124138004", "medgen:266223"], "information_content": 92.8}
{"id": "MONDO:0002110", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal rest tumor", "equivalent_identifiers": ["MONDO:0002110", "DOID:1786", "EFO:1000798", "UMLS:C0001630", "MESH:D000314", "NCIT:C2860", "SNOMEDCT:54292009", "medgen:7902"], "information_content": 100.0}
{"id": "MONDO:0010622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recessive X-linked ichthyosis", "equivalent_identifiers": ["MONDO:0010622", "DOID:1700", "OMIM:308100", "orphanet:461", "EFO:0009080", "UMLS:C0079588", "UMLS:C2677713", "UMLS:C2717836", "UMLS:C2720163", "MESH:C567443", "MESH:D016114", "MEDDRA:10048063", "NCIT:C84779", "SNOMEDCT:3642008", "SNOMEDCT:3944006", "SNOMEDCT:72523005", "medgen:86937", "icd11.foundation:1466487054", "ICD10:Q80.1"], "information_content": 95.4}
{"id": "NCBIGene:11140", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC37", "equivalent_identifiers": ["NCBIGene:11140", "ENSEMBL:ENSG00000105401", "HGNC:1735", "OMIM:605065", "UMLS:C1332722", "UniProtKB:Q16543", "PR:Q16543", "ENSEMBL:ENSP00000222005", "ENSEMBL:ENSP00000222005.1", "UMLS:C1442787", "UMLS:C1567214", "MESH:C498362"], "information_content": 83.1}
{"id": "NCBIGene:10567", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RABAC1", "equivalent_identifiers": ["NCBIGene:10567", "ENSEMBL:ENSG00000105404", "HGNC:9794", "OMIM:604925", "UMLS:C1419221", "UniProtKB:Q9UI14", "PR:Q9UI14", "ENSEMBL:ENSP00000222008", "ENSEMBL:ENSP00000222008.5", "UMLS:C0667541", "MESH:C108941"], "information_content": 92.8}
{"id": "NCBIGene:84518", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNFN", "equivalent_identifiers": ["NCBIGene:84518", "ENSEMBL:ENSG00000105427", "HGNC:30183", "OMIM:611764", "UMLS:C1539111", "UniProtKB:Q9BYD5", "PR:Q9BYD5", "ENSEMBL:ENSP00000222032", "ENSEMBL:ENSP00000222032.4", "ENSEMBL:ENSP00000469590", "ENSEMBL:ENSP00000469590.1", "UMLS:C1453990", "MESH:C487795"], "information_content": 100.0}
{"id": "MONDO:0001295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic peripheral autonomic neuropathy", "equivalent_identifiers": ["MONDO:0001295", "DOID:11488", "UMLS:C0154690", "MEDDRA:10021237", "SNOMEDCT:86489003", "medgen:509630", "icd11.foundation:1422269907", "ICD10:G90.0", "ICD9:337.0"], "information_content": 100.0}
{"id": "NCBIGene:148066", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNRF4", "equivalent_identifiers": ["NCBIGene:148066", "ENSEMBL:ENSG00000105428", "HGNC:17726", "OMIM:612063", "UMLS:C1538252", "UniProtKB:Q8WWF5", "PR:Q8WWF5", "ENSEMBL:ENSP00000222033", "ENSEMBL:ENSP00000222033.4", "UMLS:C3181127", "MESH:C558097"], "information_content": 100.0}
{"id": "MONDO:0034106", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 73", "equivalent_identifiers": ["MONDO:0034106", "DOID:0112209", "OMIM:618379", "orphanet:544503", "UMLS:C5193065", "SNOMEDCT:1222659003", "medgen:1681654"], "information_content": 100.0}
{"id": "NCBIGene:3036", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HAS1", "equivalent_identifiers": ["NCBIGene:3036", "ENSEMBL:ENSG00000105509", "HGNC:4818", "OMIM:601463", "UMLS:C1456461", "UniProtKB:D2N2G5", "UMLS:C2002936", "MESH:C523794", "UniProtKB:G3V1S7", "ENSEMBL:ENSP00000445021", "ENSEMBL:ENSP00000445021.2", "UniProtKB:Q8IYH3", "UniProtKB:Q92839", "PR:Q92839", "ENSEMBL:ENSP00000222115", "ENSEMBL:ENSP00000222115.1"], "information_content": 100.0}
{"id": "NCBIGene:9545", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB3D", "equivalent_identifiers": ["NCBIGene:9545", "ENSEMBL:ENSG00000105514", "HGNC:9779", "OMIM:604350", "UMLS:C1419208", "UniProtKB:A0A024R7G2", "UMLS:C1454131", "MESH:C492134", "UniProtKB:O95716", "PR:O95716", "ENSEMBL:ENSP00000222120", "ENSEMBL:ENSP00000222120.2", "ENSEMBL:ENSP00000466000", "ENSEMBL:ENSP00000466000.1"], "information_content": 90.9}
{"id": "NCBIGene:1628", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DBP", "equivalent_identifiers": ["NCBIGene:1628", "ENSEMBL:ENSG00000105516", "HGNC:2697", "OMIM:124097", "UMLS:C1413924", "UniProtKB:Q10586", "PR:Q10586", "ENSEMBL:ENSP00000222122", "ENSEMBL:ENSP00000222122.4", "UMLS:C1384532", "MESH:C063898"], "information_content": 92.8}
{"id": "UniProtKB:P19235-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "erythropoietin receptor isoform EPOR-F (human)", "equivalent_identifiers": ["UniProtKB:P19235-1", "PR:P19235-1", "ENSEMBL:ENSP00000222139", "ENSEMBL:ENSP00000222139.5"], "information_content": 100.0}
{"id": "MONDO:0005571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycythemia", "equivalent_identifiers": ["MONDO:0005571", "DOID:8432", "orphanet:98427", "EFO:0005804", "UMLS:C0032461", "UMLS:C1527405", "UMLS:C1868945", "MESH:D011086", "MEDDRA:10015276", "MEDDRA:10036051", "MEDDRA:10036055", "MEDDRA:10036058", "MEDDRA:10067083", "NCIT:C113711", "NCIT:C26863", "SNOMEDCT:109992005", "SNOMEDCT:127062003", "medgen:18552", "HP:0001901"], "information_content": 79.9}
{"id": "MONDO:0008092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary neutrophilia", "equivalent_identifiers": ["MONDO:0008092", "DOID:0090120", "OMIM:162830", "orphanet:279943", "UMLS:C0543669", "MESH:C563010", "SNOMEDCT:129639005", "medgen:154252"], "information_content": 100.0}
{"id": "NCBIGene:54922", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RASIP1", "equivalent_identifiers": ["NCBIGene:54922", "ENSEMBL:ENSG00000105538", "HGNC:24716", "OMIM:609623", "UMLS:C1428404", "UniProtKB:Q5U651", "PR:Q5U651", "ENSEMBL:ENSP00000222145", "ENSEMBL:ENSP00000222145.3", "UMLS:C1453040", "UMLS:C3273866", "MESH:C487329", "UniProtKB:Q7L251", "UniProtKB:Q8IUR2"], "information_content": 100.0}
{"id": "MONDO:0007621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Floating-Harbor syndrome", "equivalent_identifiers": ["MONDO:0007621", "DOID:0111358", "OMIM:136140", "orphanet:2044", "UMLS:C0729582", "MESH:C537062", "MEDDRA:10079943", "NCIT:C175241", "SNOMEDCT:312214005", "medgen:152667", "icd11.foundation:2101730645"], "information_content": 100.0}
{"id": "MONDO:0009626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudo-TORCH syndrome", "equivalent_identifiers": ["MONDO:0009626", "DOID:0050656", "OMIM.PS:251290", "orphanet:1229", "UMLS:C2931662", "UMLS:C3489725", "MESH:C537905", "SNOMEDCT:722390006", "medgen:483678"], "information_content": 90.9}
{"id": "UniProtKB:O00115-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deoxyribonuclease-2-alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00115-1", "PR:O00115-1", "ENSEMBL:ENSP00000222219", "ENSEMBL:ENSP00000222219.2"], "information_content": 100.0}
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{"id": "MONDO:0007699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hashimoto thyroiditis", "equivalent_identifiers": ["MONDO:0007699", "DOID:7188", "OMIM:140300", "EFO:0003779", "UMLS:C0677607", "UMLS:C3887534", "MESH:D050031", "MEDDRA:10008992", "MEDDRA:10019166", "MEDDRA:10019167", "MEDDRA:10025276", "NCIT:C27191", "SNOMEDCT:21983002", "medgen:151769", "icd11.foundation:972507934", "ICD10:E06.3", "HP:0000872"], "information_content": 84.8}
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{"id": "MONDO:0004651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "smallpox", "equivalent_identifiers": ["MONDO:0004651", "DOID:8736", "UMLS:C0037354", "MESH:D012899", "MEDDRA:10041197", "MEDDRA:10041198", "NCIT:C35027", "SNOMEDCT:67924001", "medgen:20785", "icd11.foundation:2054716425", "ICD10:B03", "ICD9:050"], "information_content": 92.8}
{"id": "UniProtKB:Q8TBH0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arrestin domain-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBH0-1", "PR:Q8TBH0-1", "ENSEMBL:ENSP00000222250", "ENSEMBL:ENSP00000222250.3"], "information_content": 100.0}
{"id": "MONDO:0014842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 41", "equivalent_identifiers": ["MONDO:0014842", "DOID:0070071", "OMIM:616944", "UMLS:C4310784", "medgen:934751"], "information_content": 100.0}
{"id": "NCBIGene:5296", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIK3R2", "equivalent_identifiers": ["NCBIGene:5296", "ENSEMBL:ENSG00000105647", "HGNC:8980", "OMIM:603157", "UMLS:C1418577", "UniProtKB:O00459", "PR:O00459", "ENSEMBL:ENSP00000222254", "ENSEMBL:ENSP00000222254.6", "UMLS:C3178438", "UMLS:C3537330", "MESH:C560566"], "information_content": 92.8}
{"id": "NCBIGene:5864", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB3A", "equivalent_identifiers": ["NCBIGene:5864", "ENSEMBL:ENSG00000105649", "HGNC:9777", "OMIM:179490", "UMLS:C1419206", "UniProtKB:A0A024R7I7", "UniProtKB:P20336", "PR:P20336", "ENSEMBL:ENSP00000222256", "ENSEMBL:ENSP00000222256.3"], "information_content": 92.8}
{"id": "UniProtKB:P49747-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cartilage oligomeric matrix protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49747-1", "PR:P49747-1", "ENSEMBL:ENSP00000222271", "ENSEMBL:ENSP00000222271.2"], "information_content": 95.4}
{"id": "MONDO:0008383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rheumatoid arthritis", "equivalent_identifiers": ["MONDO:0008383", "DOID:7148", "OMIM:180300", "EFO:0000685", "UMLS:C0003873", "UMLS:C1306838", "UMLS:C1833448", "MESH:D001172", "MEDDRA:10003268", "MEDDRA:10036856", "MEDDRA:10039073", "MEDDRA:10042952", "NCIT:C2884", "SNOMEDCT:69896004", "medgen:2078", "icd11.foundation:576319925", "ICD10:M06.9", "ICD9:714.0", "KEGG.DISEASE:05323", "HP:0001370"], "information_content": 77.6}
{"id": "MONDO:0018381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteochondrosis", "equivalent_identifiers": ["MONDO:0018381", "DOID:8125", "orphanet:399319", "EFO:0008577", "UMLS:C0029429", "UMLS:C0158445", "UMLS:C0729346", "MESH:D055034", "MEDDRA:10015074", "MEDDRA:10015075", "MEDDRA:10023259", "MEDDRA:10031233", "MEDDRA:10031234", "NCIT:C34879", "NCIT:C35313", "SNOMEDCT:19579005", "medgen:18216", "icd11.foundation:1446309782", "ICD10:M92", "ICD10:M93.9", "ICD9:732.6", "HP:0040188"], "information_content": 83.1}
{"id": "MONDO:0001314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pseudogout", "equivalent_identifiers": ["MONDO:0001314", "DOID:1156", "UMLS:C0033802", "UMLS:C0157852", "UMLS:C0553730", "MESH:D002805", "MEDDRA:10008687", "MEDDRA:10008688", "MEDDRA:10008689", "MEDDRA:10008690", "MEDDRA:10008691", "MEDDRA:10008720", "MEDDRA:10037121", "MEDDRA:10061761", "MEDDRA:10087753", "NCIT:C34955", "SNOMEDCT:201625003", "SNOMEDCT:201637001", "SNOMEDCT:239832006", "SNOMEDCT:239838005", "medgen:154303", "icd11.foundation:2041797033", "ICD9:712.1", "HP:0000934"], "information_content": 90.9}
{"id": "MONDO:0005306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ankylosing spondylitis", "equivalent_identifiers": ["MONDO:0005306", "DOID:7147", "EFO:0003898", "UMLS:C0038013", "UMLS:C0038020", "MESH:D013167", "MEDDRA:10002556", "MEDDRA:10039082", "MEDDRA:10041671", "MEDDRA:10041672", "MEDDRA:10048811", "MEDDRA:10054041", "MEDDRA:10058813", "MEDDRA:10089563", "NCIT:C84564", "SNOMEDCT:9631008", "medgen:11561", "ICD10:M45", "ICD9:720.0"], "information_content": 92.8}
{"id": "MONDO:0017376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reiter Syndrome", "equivalent_identifiers": ["MONDO:0017376", "DOID:6196", "orphanet:29207", "EFO:0007460", "UMLS:C0035012", "UMLS:C0085435", "UMLS:C0152085", "MESH:D016918", "MEDDRA:10003267", "MEDDRA:10016669", "MEDDRA:10037994", "MEDDRA:10038292", "MEDDRA:10038293", "MEDDRA:10038294", "MEDDRA:10038295", "MEDDRA:10057231", "NCIT:C128332", "NCIT:C34975", "SNOMEDCT:129133005", "SNOMEDCT:201736002", "SNOMEDCT:239783001", "SNOMEDCT:67224007", "medgen:39047", "ICD10:M02.10", "ICD10:M02.3", "ICD9:099.3", "ICD9:711.30"], "information_content": 100.0}
{"id": "UniProtKB:Q9BVK8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BOS complex subunit TMEM147 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVK8-1", "PR:Q9BVK8-1", "ENSEMBL:ENSP00000222284", "ENSEMBL:ENSP00000222284.4"], "information_content": 100.0}
{"id": "MONDO:0030268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 6B", "equivalent_identifiers": ["MONDO:0030268", "DOID:0070379", "OMIM:619317", "UMLS:C5543353", "medgen:1779648"], "information_content": 100.0}
{"id": "MONDO:0013277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 5", "equivalent_identifiers": ["MONDO:0013277", "DOID:0080438", "OMIM:613477", "UMLS:C3150731", "medgen:462081"], "information_content": 100.0}
{"id": "NCBIGene:26330", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GAPDHS", "equivalent_identifiers": ["NCBIGene:26330", "ENSEMBL:ENSG00000105679", "HGNC:24864", "OMIM:609169", "UMLS:C1428420", "UniProtKB:A0A0K0K1K1", "UMLS:C3660143", "MESH:C579041", "UniProtKB:O14556", "PR:O14556", "ENSEMBL:ENSP00000222286", "ENSEMBL:ENSP00000222286.3"], "information_content": 95.4}
{"id": "MONDO:0010349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian dysgenesis 2", "equivalent_identifiers": ["MONDO:0010349", "DOID:0080494", "DOID:0080861", "OMIM:300510", "UMLS:C1845294", "MESH:C564499", "medgen:336903"], "information_content": 100.0}
{"id": "UniProtKB:Q15853-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "upstream stimulatory factor 2 isoform USF2A (human)", "equivalent_identifiers": ["UniProtKB:Q15853-1", "PR:Q15853-1", "ENSEMBL:ENSP00000222305", "ENSEMBL:ENSP00000222305.2"], "information_content": 100.0}
{"id": "UniProtKB:P50548-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS domain-containing transcription factor ERF isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P50548-1", "PR:P50548-1", "ENSEMBL:ENSP00000222329", "ENSEMBL:ENSP00000222329.3"], "information_content": 100.0}
{"id": "MONDO:0007999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 2", "equivalent_identifiers": ["MONDO:0007999", "DOID:0110872", "OMIM:157170", "UMLS:C1834877", "MESH:C563579", "NCIT:C74995", "medgen:322517"], "information_content": 92.8}
{"id": "NCBIGene:2931", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSK3A", "equivalent_identifiers": ["NCBIGene:2931", "ENSEMBL:ENSG00000105723", "HGNC:4616", "OMIM:606784", "UMLS:C1415320", "UniProtKB:P49840", "PR:P49840", "ENSEMBL:ENSP00000222330", "ENSEMBL:ENSP00000222330.3", "ENSEMBL:ENSP00000412663", "ENSEMBL:ENSP00000412663.1", "UMLS:C3853562", "MESH:C000728947"], "information_content": 88.2}
{"id": "MONDO:0007739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Huntington disease", "equivalent_identifiers": ["MONDO:0007739", "DOID:12858", "OMIM:143100", "orphanet:399", "UMLS:C0020179", "MESH:D006816", "MEDDRA:10020469", "MEDDRA:10070668", "NCIT:C82342", "SNOMEDCT:58756001", "medgen:5654", "icd11.foundation:2132180242", "ICD9:333.4", "KEGG.DISEASE:05016"], "information_content": 89.4}
{"id": "NCBIGene:23094", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIPA1L3", "equivalent_identifiers": ["NCBIGene:23094", "ENSEMBL:ENSG00000105738", "HGNC:23801", "OMIM:616655", "UMLS:C1428269", "UniProtKB:B2RWP0", "UMLS:C4276650", "MESH:C000609020", "UniProtKB:O60292", "PR:O60292", "ENSEMBL:ENSP00000222345", "ENSEMBL:ENSP00000222345.4"], "information_content": 88.2}
{"id": "MONDO:0002605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatic angiomyolipoma", "equivalent_identifiers": ["MONDO:0002605", "DOID:3317", "UMLS:C1333962", "MEDDRA:10086570", "NCIT:C27485", "SNOMEDCT:1196904007", "medgen:272705", "HP:0034832"], "information_content": 100.0}
{"id": "MONDO:0010589", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aarskog-Scott syndrome, X-linked", "equivalent_identifiers": ["MONDO:0010589", "DOID:6683", "OMIM:305400", "UMLS:C0175701", "UMLS:C1844569", "UMLS:C3275558", "MESH:C535331", "MESH:C564427", "MEDDRA:10067148", "MEDDRA:10083884", "NCIT:C129720", "SNOMEDCT:14921002", "medgen:61234"], "information_content": 100.0}
{"id": "MONDO:0009255", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "galactokinase deficiency", "equivalent_identifiers": ["MONDO:0009255", "DOID:14695", "OMIM:230200", "orphanet:79237", "UMLS:C0268155", "NCIT:C114767", "SNOMEDCT:124302001", "medgen:120614", "icd11.foundation:1173858031", "ICD10:E74.29"], "information_content": 100.0}
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{"id": "MONDO:0005907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "persian gulf syndrome", "equivalent_identifiers": ["MONDO:0005907", "DOID:4491", "EFO:0007430", "UMLS:C0282550", "MESH:D018923", "MEDDRA:10056557", "SNOMEDCT:95877004", "medgen:84396"], "information_content": 100.0}
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{"id": "MONDO:0001802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute tympanitis", "equivalent_identifiers": ["MONDO:0001802", "DOID:13790", "UMLS:C0155460", "MEDDRA:10000936", "MEDDRA:10086670", "SNOMEDCT:297009", "medgen:509976", "ICD10:H73.0", "ICD9:384.00"], "information_content": 100.0}
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{"id": "ENSEMBL:ENSP00000222388", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000222388", "equivalent_identifiers": ["ENSEMBL:ENSP00000222388"]}
{"id": "UniProtKB:P14210-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hepatocyte growth factor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P14210-1", "PR:P14210-1", "ENSEMBL:ENSP00000222390", "ENSEMBL:ENSP00000222390.5"], "information_content": 100.0}
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{"id": "MONDO:0011360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 14", "equivalent_identifiers": ["MONDO:0011360", "DOID:0110469", "OMIM:603678", "UMLS:C1863613", "MESH:C566344", "medgen:350931"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBV4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Wnt-16 isoform hWnt-16b (human)", "equivalent_identifiers": ["UniProtKB:Q9UBV4-1", "PR:Q9UBV4-1", "ENSEMBL:ENSP00000222462", "ENSEMBL:ENSP00000222462.2"], "information_content": 100.0}
{"id": "MONDO:0009943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pyle disease", "equivalent_identifiers": ["MONDO:0009943", "DOID:0080019", "OMIM:265900", "orphanet:3005", "UMLS:C0265294", "UMLS:C5194606", "MESH:C536252", "MEDDRA:10066147", "MEDDRA:10066148", "SNOMEDCT:27837003", "medgen:82704", "icd11.foundation:651364947", "HP:0100255"], "information_content": 90.9}
{"id": "NCBIGene:1358", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPA2", "equivalent_identifiers": ["NCBIGene:1358", "ENSEMBL:ENSG00000158516", "HGNC:2297", "OMIM:600688", "UMLS:C1413663", "UniProtKB:P48052", "PR:P48052", "ENSEMBL:ENSP00000222481", "ENSEMBL:ENSP00000222481.4"], "information_content": 90.9}
{"id": "UniProtKB:Q9UI42-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carboxypeptidase A4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UI42-1", "PR:Q9UI42-1", "ENSEMBL:ENSP00000222482", "ENSEMBL:ENSP00000222482.4"], "information_content": 100.0}
{"id": "UniProtKB:A4D1E9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTP-binding protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A4D1E9-1", "PR:A4D1E9-1", "ENSEMBL:ENSP00000222511", "ENSEMBL:ENSP00000222511.7"], "information_content": 100.0}
{"id": "MONDO:0009215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group A", "equivalent_identifiers": ["MONDO:0009215", "DOID:0111095", "OMIM:227650", "EFO:0009044", "UMLS:C1856796", "UMLS:C1856797", "UMLS:C3469521", "MESH:C565572", "MESH:C565573", "NCIT:C125702", "medgen:483333"], "information_content": 92.8}
{"id": "UniProtKB:P48307-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tissue factor pathway inhibitor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48307-1", "PR:P48307-1", "ENSEMBL:ENSP00000222543", "ENSEMBL:ENSP00000222543.5"], "information_content": 100.0}
{"id": "UniProtKB:O15155-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BET1 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15155-1", "PR:O15155-1", "ENSEMBL:ENSP00000222547", "ENSEMBL:ENSP00000222547.3"], "information_content": 100.0}
{"id": "MONDO:0020074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive myoclonus epilepsy", "equivalent_identifiers": ["MONDO:0020074", "DOID:891", "OMIM:310370", "OMIM.PS:254800", "orphanet:98261", "UMLS:C0751778", "UMLS:C4021759", "MESH:D020191", "MEDDRA:10089676", "NCIT:C7636", "SNOMEDCT:1208972001", "SNOMEDCT:192992007", "SNOMEDCT:267581004", "SNOMEDCT:37356005", "medgen:199732", "icd11.foundation:173613583", "HP:0002123"], "information_content": 80.9}
{"id": "MONDO:0011911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniolenticulosutural dysplasia", "equivalent_identifiers": ["MONDO:0011911", "DOID:0070307", "OMIM:607812", "orphanet:50814", "UMLS:C1843042", "MESH:C564332", "SNOMEDCT:725100001", "medgen:334671", "icd11.foundation:970423180"], "information_content": 100.0}
{"id": "MONDO:0009528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chylomicron retention disease", "equivalent_identifiers": ["MONDO:0009528", "DOID:0060357", "OMIM:246700", "orphanet:71", "UMLS:C0795956", "MESH:C535460", "SNOMEDCT:702364003", "medgen:208651", "icd11.foundation:1447416932", "ICD10:E78.3"], "information_content": 100.0}
{"id": "NCBIGene:10135", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAMPT", "equivalent_identifiers": ["NCBIGene:10135", "ENSEMBL:ENSG00000105835", "HGNC:30092", "OMIM:608764", "UMLS:C1428933", "UniProtKB:A0A7P0T941", "ENSEMBL:ENSP00000505390", "ENSEMBL:ENSP00000505390.1", "UniProtKB:P43490", "PR:P43490", "ENSEMBL:ENSP00000222553", "ENSEMBL:ENSP00000222553.3", "ENSEMBL:ENSP00000390591", "ENSEMBL:ENSP00000390591.2", "ENSEMBL:ENSP00000506129", "ENSEMBL:ENSP00000506129.1", "ENSEMBL:ENSP00000506540", "ENSEMBL:ENSP00000506540.1", "UMLS:C1571622", "MESH:C085455"], "information_content": 88.2}
{"id": "NCBIGene:221830", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR1F", "equivalent_identifiers": ["NCBIGene:221830", "ENSEMBL:ENSG00000105849", "HGNC:18027", "OMIM:608312", "UMLS:C1425253", "UniProtKB:Q3B726", "PR:Q3B726", "ENSEMBL:ENSP00000222567", "ENSEMBL:ENSP00000222567.5", "UMLS:C1173203", "MESH:C470021"], "information_content": 92.8}
{"id": "MONDO:0007042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Saethre-Chotzen syndrome", "equivalent_identifiers": ["MONDO:0007042", "DOID:14768", "OMIM:101400", "orphanet:794", "UMLS:C0175699", "UMLS:C1863370", "MESH:C566325", "NCIT:C75034", "SNOMEDCT:83015004", "medgen:64221", "icd11.foundation:2109857109"], "information_content": 100.0}
{"id": "MONDO:0008722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short chain acyl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0008722", "DOID:0080154", "OMIM:201470", "orphanet:26792", "UMLS:C0342783", "MESH:C537596", "MEDDRA:10072279", "MEDDRA:10072655", "NCIT:C84539", "SNOMEDCT:124166007", "SNOMEDCT:787412002", "medgen:90998", "icd11.foundation:180018315"], "information_content": 100.0}
{"id": "UniProtKB:P26012-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin beta-8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P26012-1", "PR:P26012-1", "ENSEMBL:ENSP00000222573", "ENSEMBL:ENSP00000222573.3"], "information_content": 100.0}
{"id": "UniProtKB:O60381-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HMG box-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60381-1", "PR:O60381-1", "ENSEMBL:ENSP00000222574", "ENSEMBL:ENSP00000222574.4", "ENSEMBL:ENSP00000418738", "ENSEMBL:ENSP00000418738.1", "ENSEMBL:ENSP00000420500", "ENSEMBL:ENSP00000420500.1", "ENSEMBL:ENSP00000491311", "ENSEMBL:ENSP00000491311.1", "ENSEMBL:ENSP00000492167", "ENSEMBL:ENSP00000492167.1", "ENSEMBL:ENSP00000492343", "ENSEMBL:ENSP00000492343.1"], "information_content": 100.0}
{"id": "NCBIGene:6671", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SP4", "equivalent_identifiers": ["NCBIGene:6671", "ENSEMBL:ENSG00000105866", "HGNC:11209", "OMIM:600540", "UMLS:C1420334", "UniProtKB:A0A3B3IRW4", "ENSEMBL:ENSP00000496957", "ENSEMBL:ENSP00000496957.1", "UMLS:C1566337", "MESH:C497124", "UniProtKB:Q02446", "PR:Q02446", "ENSEMBL:ENSP00000222584", "ENSEMBL:ENSP00000222584.3", "UMLS:C5400629", "UniProtKB:Q32M51"], "information_content": 95.4}
{"id": "UniProtKB:Q9HCQ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pro-FMRFamide-related neuropeptide VF isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCQ7-1", "PR:Q9HCQ7-1", "ENSEMBL:ENSP00000222674", "ENSEMBL:ENSP00000222674.2"], "information_content": 100.0}
{"id": "UniProtKB:P51636-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caveolin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P51636-1", "PR:P51636-1", "ENSEMBL:ENSP00000222693", "ENSEMBL:ENSP00000222693.4"], "information_content": 100.0}
{"id": "MONDO:0019947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rippling muscle disease 2", "equivalent_identifiers": ["MONDO:0019947", "DOID:0060255", "OMIM:606072", "orphanet:97238", "UMLS:C1832560", "NCIT:C148325", "medgen:371357"], "information_content": 100.0}
{"id": "MONDO:0024472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "boutonneuse fever", "equivalent_identifiers": ["MONDO:0024472", "DOID:14095", "orphanet:101334", "orphanet:83313", "UMLS:C0006060", "MESH:D001907", "MEDDRA:10006045", "MEDDRA:10039128", "MEDDRA:10057297", "SNOMEDCT:186774005", "medgen:14205", "icd11.foundation:1771381430", "ICD10:A77.1", "ICD9:082.1"], "information_content": 100.0}
{"id": "NCBIGene:3199", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXA2", "equivalent_identifiers": ["NCBIGene:3199", "ENSEMBL:ENSG00000105996", "HGNC:5103", "OMIM:604685", "UMLS:C1415656", "UniProtKB:O43364", "PR:O43364", "ENSEMBL:ENSP00000222718", "ENSEMBL:ENSP00000222718.5", "UMLS:C1957595", "MESH:C520321"], "information_content": 100.0}
{"id": "MONDO:0012802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculoauricular syndrome", "equivalent_identifiers": ["MONDO:0012802", "DOID:0060482", "OMIM:612109", "orphanet:157962", "UMLS:C2677500", "MESH:C567416", "medgen:393758"], "information_content": 100.0}
{"id": "MONDO:0010970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies", "equivalent_identifiers": ["MONDO:0010970", "DOID:0111697", "OMIM:600987", "UMLS:C1832950", "MESH:C563414", "medgen:318752"], "information_content": 100.0}
{"id": "MONDO:0007337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft palate-lateral synechia syndrome", "equivalent_identifiers": ["MONDO:0007337", "DOID:0080313", "OMIM:119550", "orphanet:2016", "UMLS:C0795898", "MESH:C563047", "SNOMEDCT:403772000", "medgen:162888"], "information_content": 100.0}
{"id": "UniProtKB:Q8NES3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NES3-1", "PR:Q8NES3-1", "ENSEMBL:ENSP00000222725", "ENSEMBL:ENSP00000222725.5"], "information_content": 100.0}
{"id": "MONDO:0008371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dowling-Degos disease", "equivalent_identifiers": ["MONDO:0008371", "DOID:0060256", "orphanet:79145", "UMLS:C3714534", "MESH:C562924", "MEDDRA:10068651", "medgen:811363", "icd11.foundation:15123132", "HP:6000745"], "information_content": 89.4}
{"id": "MONDO:0017607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "caudal regression sequence", "equivalent_identifiers": ["MONDO:0017607", "DOID:0080700", "orphanet:3027", "UMLS:C0300948", "UMLS:C4086146", "MEDDRA:10059387", "NCIT:C124505", "SNOMEDCT:8301004", "medgen:81254", "icd11.foundation:269997265"], "information_content": 100.0}
{"id": "NCBIGene:3202", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXA5", "equivalent_identifiers": ["NCBIGene:3202", "ENSEMBL:ENSG00000106004", "HGNC:5106", "OMIM:142952", "UMLS:C1415659", "UniProtKB:P20719", "PR:P20719", "ENSEMBL:ENSP00000222726", "ENSEMBL:ENSP00000222726.3", "UMLS:C1448586", "MESH:C489213"], "information_content": 95.4}
{"id": "NCBIGene:3203", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXA6", "equivalent_identifiers": ["NCBIGene:3203", "ENSEMBL:ENSG00000106006", "HGNC:5107", "OMIM:142951", "UMLS:C1415660", "UniProtKB:P31267", "PR:P31267", "ENSEMBL:ENSP00000222728", "ENSEMBL:ENSP00000222728.3"], "information_content": 100.0}
{"id": "UniProtKB:O95859-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetraspanin-12 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95859-1", "PR:O95859-1", "ENSEMBL:ENSP00000222747", "ENSEMBL:ENSP00000222747.3", "ENSEMBL:ENSP00000397699", "ENSEMBL:ENSP00000397699.1"], "information_content": 100.0}
{"id": "MONDO:0010691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Norrie disease", "equivalent_identifiers": ["MONDO:0010691", "DOID:0060844", "OMIM:310600", "orphanet:649", "UMLS:C0266526", "MESH:C537849", "MEDDRA:10069760", "NCIT:C118634", "SNOMEDCT:15228007", "medgen:75615", "icd11.foundation:676214590"], "information_content": 100.0}
{"id": "MONDO:0010269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coats disease", "equivalent_identifiers": ["MONDO:0010269", "DOID:7765", "OMIM:300216", "orphanet:190", "UMLS:C0154832", "UMLS:C5964756", "MESH:D058456", "MEDDRA:10015901", "MEDDRA:10067489", "SNOMEDCT:25506007", "SNOMEDCT:360455002", "medgen:102319", "icd11.foundation:2032707885", "ICD10:H35.02", "ICD9:362.12", "HP:0007898"], "information_content": 100.0}
{"id": "MONDO:0019631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "persistent hyperplastic primary vitreous", "equivalent_identifiers": ["MONDO:0019631", "DOID:0060282", "OMIM.PS:221900", "orphanet:91495", "UMLS:C0266568", "MESH:D054514", "MEDDRA:10091189", "NCIT:C161554", "SNOMEDCT:314270008", "SNOMEDCT:44647001", "SNOMEDCT:69927002", "medgen:120583", "icd11.foundation:1011137326", "HP:0007968"], "information_content": 89.4}
{"id": "MONDO:0007918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "equivalent_identifiers": ["MONDO:0007918", "DOID:0060349", "OMIM:152950", "orphanet:2526", "UMLS:C1835265", "MESH:C537711", "medgen:320559"], "information_content": 100.0}
{"id": "MONDO:0010631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "incontinentia pigmenti", "equivalent_identifiers": ["MONDO:0010631", "DOID:12305", "OMIM:308300", "orphanet:464", "UMLS:C0021171", "UMLS:C2930820", "MESH:C531716", "MESH:D007184", "MEDDRA:10077624", "MEDDRA:10077626", "NCIT:C84787", "SNOMEDCT:367520004", "medgen:7049", "icd11.foundation:1542530268", "ICD10:Q82.3"], "information_content": 100.0}
{"id": "UniProtKB:P52757-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-chimaerin isoform hBeta-2 (human)", "equivalent_identifiers": ["UniProtKB:P52757-1", "PR:P52757-1", "ENSEMBL:ENSP00000222792", "ENSEMBL:ENSP00000222792.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFV4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sn-1-specific diacylglycerol lipase ABHD11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFV4-1", "PR:Q8NFV4-1", "ENSEMBL:ENSP00000222800", "ENSEMBL:ENSP00000222800.4"], "information_content": 100.0}
{"id": "NCBIGene:55033", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FKBP14", "equivalent_identifiers": ["NCBIGene:55033", "ENSEMBL:ENSG00000106080", "HGNC:18625", "OMIM:614505", "UMLS:C1425657", "UniProtKB:A0A090N7V8", "UMLS:C3492840", "MESH:C572897", "UniProtKB:Q9NWM8", "PR:Q9NWM8", "ENSEMBL:ENSP00000222803", "ENSEMBL:ENSP00000222803.5"], "information_content": 90.9}
{"id": "MONDO:0007001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tricuspid valve prolapse", "equivalent_identifiers": ["MONDO:0007001", "DOID:5644", "EFO:1001218", "UMLS:C0040962", "MESH:D014263", "MEDDRA:10066862", "SNOMEDCT:253383003", "medgen:11912", "icd11.foundation:973833808", "HP:0001704"], "information_content": 100.0}
{"id": "MONDO:0010650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Melnick-Needles syndrome", "equivalent_identifiers": ["MONDO:0010650", "DOID:0111788", "OMIM:309350", "orphanet:2484", "UMLS:C0025237", "MEDDRA:10059236", "MEDDRA:10060908", "SNOMEDCT:13449007", "medgen:6292"], "information_content": 100.0}
{"id": "MONDO:0002660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharochalasis", "equivalent_identifiers": ["MONDO:0002660", "DOID:348", "UMLS:C0005742", "MEDDRA:10005152", "SNOMEDCT:47704002", "medgen:14154", "icd11.foundation:583527617", "ICD10:H02.3", "ICD9:374.34", "HP:0010749"], "information_content": 100.0}
{"id": "UniProtKB:Q16623-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-1A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16623-1", "PR:Q16623-1", "ENSEMBL:ENSP00000222812", "ENSEMBL:ENSP00000222812.3"], "information_content": 100.0}
{"id": "MONDO:0019345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "shigellosis", "equivalent_identifiers": ["MONDO:0019345", "DOID:12385", "orphanet:810", "EFO:0005585", "UMLS:C0013371", "UMLS:C0302358", "UMLS:C0302359", "UMLS:C0302360", "UMLS:C1527298", "MESH:D004405", "MEDDRA:10003972", "MEDDRA:10017915", "MEDDRA:10040549", "MEDDRA:10040550", "MEDDRA:10040553", "MEDDRA:10040554", "MEDDRA:10054178", "NCIT:C157978", "SNOMEDCT:111817006", "SNOMEDCT:274081004", "SNOMEDCT:34335000", "SNOMEDCT:36188001", "SNOMEDCT:55760004", "SNOMEDCT:66301008", "medgen:8513", "icd11.foundation:2080365623", "ICD10:A03", "ICD10:A03.0", "ICD10:A03.1", "ICD10:A03.2", "ICD9:004", "ICD9:004.0", "ICD9:004.1", "ICD9:004.2", "KEGG.DISEASE:05131"], "information_content": 100.0}
{"id": "MONDO:0018896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombotic thrombocytopenic purpura", "equivalent_identifiers": ["MONDO:0018896", "DOID:10772", "orphanet:54057", "UMLS:C0034155", "MESH:D011697", "MEDDRA:10037562", "MEDDRA:10037563", "MEDDRA:10043562", "MEDDRA:10043648", "MEDDRA:10073197", "NCIT:C78797", "SNOMEDCT:78129009", "medgen:48266", "icd11.foundation:1708277768", "ICD10:M31.19"], "information_content": 92.8}
{"id": "MONDO:0012342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "7q11.23 microduplication syndrome", "equivalent_identifiers": ["MONDO:0012342", "DOID:0080926", "OMIM:609757", "orphanet:96121", "UMLS:C1857844", "UMLS:C3149767", "UMLS:C4512054", "MESH:C565723", "NCIT:C165597", "SNOMEDCT:726707004", "medgen:347562"], "information_content": 95.4}
{"id": "MONDO:0002476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anuria", "equivalent_identifiers": ["MONDO:0002476", "DOID:2983", "EFO:0009530", "UMLS:C0003460", "MESH:D001002", "MEDDRA:10002847", "MEDDRA:10003113", "MEDDRA:10016160", "MEDDRA:10046550", "MEDDRA:10046641", "NCIT:C114699", "SNOMEDCT:2472002", "medgen:358", "icd11.foundation:248693056", "HP:0100519"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y239-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleotide-binding oligomerization domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y239-1", "PR:Q9Y239-1", "ENSEMBL:ENSP00000222823", "ENSEMBL:ENSP00000222823.4"], "information_content": 100.0}
{"id": "UniProtKB:P20815-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 3A5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20815-1", "PR:P20815-1", "ENSEMBL:ENSP00000222982", "ENSEMBL:ENSP00000222982.4"], "information_content": 100.0}
{"id": "MONDO:0012503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thiopurine S-methyltransferase deficiency", "equivalent_identifiers": ["MONDO:0012503", "DOID:0061004", "DOID:0080172", "OMIM:610460", "UMLS:C0342801", "MESH:C536512", "NCIT:C4389", "SNOMEDCT:238012003", "medgen:83352", "icd11.foundation:1916778396"], "information_content": 84.2}
{"id": "MONDO:0000496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemorrhagic cystitis", "equivalent_identifiers": ["MONDO:0000496", "DOID:0050859", "UMLS:C0085692", "MESH:D000096722", "MEDDRA:10011793", "MEDDRA:10011794", "MEDDRA:10019598", "MEDDRA:10055853", "NCIT:C114666", "SNOMEDCT:87696004", "medgen:508360"], "information_content": 100.0}
{"id": "NCBIGene:29886", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNX8", "equivalent_identifiers": ["NCBIGene:29886", "ENSEMBL:ENSG00000106266", "HGNC:14972", "OMIM:614905", "UMLS:C1423099", "UniProtKB:Q9Y5X2", "PR:Q9Y5X2", "ENSEMBL:ENSP00000222990", "ENSEMBL:ENSP00000222990.3", "UMLS:C2741865", "MESH:C544873"], "information_content": 95.4}
{"id": "MONDO:0008542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetralogy of fallot", "equivalent_identifiers": ["MONDO:0008542", "DOID:6419", "OMIM:187500", "orphanet:3303", "UMLS:C0039685", "MESH:D013771", "MEDDRA:10016191", "MEDDRA:10016192", "MEDDRA:10016193", "MEDDRA:10043384", "NCIT:C84505", "SNOMEDCT:86299006", "medgen:21498", "icd11.foundation:90973426", "ICD10:Q21.3", "ICD9:745.2", "HP:0001636"], "information_content": 87.2}
{"id": "MONDO:0007174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lown-Ganong-Levine syndrome", "equivalent_identifiers": ["MONDO:0007174", "DOID:13087", "OMIM:108950", "orphanet:844", "UMLS:C0024054", "UMLS:C1862387", "MESH:C566237", "MESH:D008151", "MEDDRA:10024984", "SNOMEDCT:55475008", "medgen:354734", "icd11.foundation:414532162", "ICD10:I45.6", "ICD9:426.81"], "information_content": 100.0}
{"id": "MONDO:0054697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 11b with atopic dermatitis", "equivalent_identifiers": ["MONDO:0054697", "DOID:0111958", "OMIM:617638", "UMLS:C4539957", "NCIT:C176630", "medgen:1627819"], "information_content": 100.0}
{"id": "NCBIGene:8976", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WASL", "equivalent_identifiers": ["NCBIGene:8976", "ENSEMBL:ENSG00000106299", "HGNC:12735", "OMIM:605056", "UMLS:C1421482", "UniProtKB:O00401", "PR:O00401", "ENSEMBL:ENSP00000223023", "ENSEMBL:ENSP00000223023.4", "UMLS:C1565159", "MESH:C495771"], "information_content": 95.4}
{"id": "NCBIGene:23553", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HYAL4", "equivalent_identifiers": ["NCBIGene:23553", "ENSEMBL:ENSG00000106302", "HGNC:5323", "OMIM:604510", "UMLS:C1415828", "UniProtKB:Q2M3T9", "PR:Q2M3T9", "ENSEMBL:ENSP00000223026", "ENSEMBL:ENSP00000223026.4", "ENSEMBL:ENSP00000417186", "ENSEMBL:ENSP00000417186.1"], "information_content": 95.4}
{"id": "UniProtKB:Q13155-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13155-1", "PR:Q13155-1", "ENSEMBL:ENSP00000223029", "ENSEMBL:ENSP00000223029.3"], "information_content": 100.0}
{"id": "NCBIGene:5118", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCOLCE", "equivalent_identifiers": ["NCBIGene:5118", "ENSEMBL:ENSG00000106333", "HGNC:8738", "OMIM:600270", "UMLS:C1418383", "UniProtKB:Q15113", "PR:Q15113", "ENSEMBL:ENSP00000223061", "ENSEMBL:ENSP00000223061.5", "UMLS:C1453811", "MESH:C491555"], "information_content": 89.4}
{"id": "UniProtKB:Q9NW13-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 28 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NW13-1", "PR:Q9NW13-1", "ENSEMBL:ENSP00000223073", "ENSEMBL:ENSP00000223073.1"], "information_content": 100.0}
{"id": "MONDO:0012794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ANE syndrome", "equivalent_identifiers": ["MONDO:0012794", "DOID:0112244", "OMIM:612079", "orphanet:157954", "UMLS:C2677535", "MESH:C567425", "SNOMEDCT:770941005", "medgen:394313"], "information_content": 100.0}
{"id": "MONDO:0014027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 11", "equivalent_identifiers": ["MONDO:0014027", "DOID:0110708", "OMIM:615059", "UMLS:C3554409", "medgen:767323"], "information_content": 100.0}
{"id": "MONDO:0010711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TARP syndrome", "equivalent_identifiers": ["MONDO:0010711", "DOID:0111780", "OMIM:311900", "orphanet:2886", "UMLS:C1839463", "MESH:C536942", "SNOMEDCT:725911008", "medgen:333324"], "information_content": 100.0}
{"id": "MONDO:0019591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "panhypopituitarism", "equivalent_identifiers": ["MONDO:0019591", "DOID:9410", "orphanet:90695", "UMLS:C0242343", "MESH:C580003", "MEDDRA:10033662", "NCIT:C110940", "SNOMEDCT:32390006", "medgen:69171", "icd11.foundation:1576287890", "ICD9:253.2", "HP:0000871"], "information_content": 92.8}
{"id": "MONDO:0011452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 7", "equivalent_identifiers": ["MONDO:0011452", "DOID:0110704", "OMIM:604379", "EFO:0009163", "UMLS:C1836672", "UMLS:C3148823", "UMLS:C3148824", "MESH:C536973", "medgen:322969"], "information_content": 100.0}
{"id": "UniProtKB:P05121-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plasminogen activator inhibitor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P05121-1", "PR:P05121-1", "ENSEMBL:ENSP00000223095", "ENSEMBL:ENSP00000223095.4"], "information_content": 100.0}
{"id": "NCBIGene:8985", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLOD3", "equivalent_identifiers": ["NCBIGene:8985", "ENSEMBL:ENSG00000106397", "HGNC:9083", "OMIM:603066", "UMLS:C1418653", "UniProtKB:O60568", "PR:O60568", "ENSEMBL:ENSP00000223127", "ENSEMBL:ENSP00000223127.3", "UMLS:C1259763", "MESH:C475767"], "information_content": 88.2}
{"id": "MONDO:0006541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa", "equivalent_identifiers": ["MONDO:0006541", "DOID:2730", "EFO:1000690", "UMLS:C0014527", "MESH:D004820", "MEDDRA:10014989", "NCIT:C67383", "SNOMEDCT:61003004", "medgen:41832", "ICD10:Q81"], "information_content": 72.9}
{"id": "NCBIGene:6119", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPA3", "equivalent_identifiers": ["NCBIGene:6119", "ENSEMBL:ENSG00000106399", "HGNC:10291", "OMIM:179837", "UMLS:C1419620", "UniProtKB:A4D105", "UniProtKB:P35244", "PR:P35244", "ENSEMBL:ENSP00000223129", "ENSEMBL:ENSP00000223129.4", "ENSEMBL:ENSP00000379914", "ENSEMBL:ENSP00000379914.2", "UMLS:C2607490", "MESH:C534779"], "information_content": 88.2}
{"id": "NCBIGene:51024", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FIS1", "equivalent_identifiers": ["NCBIGene:51024", "ENSEMBL:ENSG00000214253", "HGNC:21689", "OMIM:609003", "UMLS:C1825300", "UniProtKB:Q9Y3D6", "PR:Q9Y3D6", "ENSEMBL:ENSP00000223136", "ENSEMBL:ENSP00000223136.4", "UMLS:C1310954", "MESH:C476525"], "information_content": 79.9}
{"id": "MONDO:0019609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zellweger spectrum disorders", "equivalent_identifiers": ["MONDO:0019609", "DOID:905", "orphanet:912", "UMLS:C0043459", "UMLS:C0282526", "MESH:D015211", "MEDDRA:10053684", "MEDDRA:10053706", "MEDDRA:10082383", "MEDDRA:10082387", "NCIT:C125593", "NCIT:C85239", "SNOMEDCT:13306007", "SNOMEDCT:88469006", "medgen:21958", "ICD10:E71.510"], "information_content": 75.3}
{"id": "NCBIGene:113263", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLCCI1", "equivalent_identifiers": ["NCBIGene:113263", "ENSEMBL:ENSG00000106415", "HGNC:18713", "OMIM:614283", "UMLS:C1425732", "UniProtKB:Q86VQ1", "PR:Q86VQ1", "ENSEMBL:ENSP00000223145", "ENSEMBL:ENSP00000223145.5", "UMLS:C3253882", "MESH:C561807"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 41 kDa isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYV8-1", "PR:Q9BYV8-1", "ENSEMBL:ENSP00000223208", "ENSEMBL:ENSP00000223208.4"], "information_content": 100.0}
{"id": "MONDO:0006037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrolethalus syndrome", "equivalent_identifiers": ["MONDO:0006037", "DOID:0050779", "OMIM.PS:236680", "orphanet:2189", "UMLS:C2931104", "MESH:C536079", "SNOMEDCT:721232000", "medgen:419335"], "information_content": 92.8}
{"id": "MONDO:0100349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COACH syndrome", "equivalent_identifiers": ["MONDO:0100349", "DOID:0111589", "orphanet:1454", "UMLS:C1857662", "MESH:C536430", "SNOMEDCT:721847002", "medgen:387879"], "information_content": 90.9}
{"id": "MONDO:0014469", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 103", "equivalent_identifiers": ["MONDO:0014469", "DOID:0110464", "OMIM:616042", "UMLS:C4015050", "medgen:863487"], "information_content": 100.0}
{"id": "UniProtKB:O60290-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 862 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60290-1", "PR:O60290-1", "ENSEMBL:ENSP00000223210", "ENSEMBL:ENSP00000223210.4"], "information_content": 100.0}
{"id": "MONDO:0016070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary gingival fibromatosis", "equivalent_identifiers": ["MONDO:0016070", "DOID:0060466", "OMIM.PS:135300", "orphanet:2024", "UMLS:C0016049", "UMLS:C0399440", "UMLS:C4280677", "MESH:C562884", "MESH:D005351", "MEDDRA:10088210", "SNOMEDCT:109620006", "SNOMEDCT:58569000", "medgen:140775", "icd11.foundation:1911315646", "HP:0000169"], "information_content": 87.2}
{"id": "MONDO:0017219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microform holoprosencephaly", "equivalent_identifiers": ["MONDO:0017219", "DOID:0111380", "orphanet:280200", "UMLS:C5393309", "SNOMEDCT:1197215004", "medgen:1711978", "icd11.foundation:44293173"], "information_content": 90.9}
{"id": "UniProtKB:Q5EB52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mesoderm-specific transcript homolog protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5EB52-1", "PR:Q5EB52-1", "ENSEMBL:ENSP00000223215", "ENSEMBL:ENSP00000223215.4"], "information_content": 100.0}
{"id": "MONDO:0019917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maternal uniparental disomy of chromosome 20", "equivalent_identifiers": ["MONDO:0019917", "DOID:0111714", "OMIM:617352", "orphanet:96186", "UMLS:C4275029", "SNOMEDCT:715735007", "medgen:909388", "icd11.foundation:700797720"], "information_content": 100.0}
{"id": "MONDO:0010043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 17", "equivalent_identifiers": ["MONDO:0010043", "DOID:0110770", "OMIM:270685", "orphanet:100998", "UMLS:C2931276", "MESH:C536644", "SNOMEDCT:230263009", "medgen:419034"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRH1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein YAE1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRH1-1", "PR:Q9NRH1-1", "ENSEMBL:ENSP00000223273", "ENSEMBL:ENSP00000223273.2"], "information_content": 100.0}
{"id": "DOID:0111867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nonphotosensitive trichothiodystrophy", "equivalent_identifiers": ["DOID:0111867"]}
{"id": "MONDO:0011125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichothiodystrophy 1, photosensitive", "equivalent_identifiers": ["MONDO:0011125", "DOID:0111873", "OMIM:601675", "UMLS:C1866504", "UMLS:C1866505", "MESH:C566643", "NCIT:C156433", "medgen:355730"], "information_content": 100.0}
{"id": "NCBIGene:26157", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GIMAP2", "equivalent_identifiers": ["NCBIGene:26157", "ENSEMBL:ENSG00000106560", "HGNC:21789", "OMIM:608085", "UMLS:C1539563", "UniProtKB:A0A090N8H4", "UMLS:C2975888", "MESH:C553225", "UniProtKB:Q9UG22", "PR:Q9UG22", "ENSEMBL:ENSP00000223293", "ENSEMBL:ENSP00000223293.5"], "information_content": 100.0}
{"id": "MONDO:0007191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Behcet disease", "equivalent_identifiers": ["MONDO:0007191", "DOID:13241", "OMIM:109650", "orphanet:117", "EFO:0003780", "UMLS:C0004943", "MESH:D001528", "MEDDRA:10004211", "MEDDRA:10004212", "MEDDRA:10004213", "NCIT:C34416", "SNOMEDCT:310701003", "medgen:2568", "icd11.foundation:1668927157", "ICD10:M35.2", "ICD9:136.1"], "information_content": 100.0}
{"id": "NCBIGene:5683", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMA2", "equivalent_identifiers": ["NCBIGene:5683", "ENSEMBL:ENSG00000106588", "HGNC:9531", "OMIM:176842", "UMLS:C1419004", "UniProtKB:A0A024RA52", "ENSEMBL:ENSP00000455744", "UMLS:C5828644", "MESH:C000726867", "UniProtKB:P25787", "PR:P25787", "ENSEMBL:ENSP00000223321", "ENSEMBL:ENSP00000223321.4"], "information_content": 87.2}
{"id": "UniProtKB:Q8IUX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adipocyte enhancer-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUX7-1", "PR:Q8IUX7-1", "ENSEMBL:ENSP00000223357", "ENSEMBL:ENSP00000223357.3"], "information_content": 100.0}
{"id": "MONDO:0009264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastroschisis", "equivalent_identifiers": ["MONDO:0009264", "DOID:11044", "OMIM:230750", "orphanet:2368", "EFO:1000949", "UMLS:C0265706", "MESH:D020139", "MEDDRA:10018046", "NCIT:C84725", "SNOMEDCT:72951007", "medgen:82721", "icd11.foundation:551758329", "ICD10:Q79.3", "ICD9:756.73", "HP:0001543"], "information_content": 95.4}
{"id": "NCBIGene:58498", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYL7", "equivalent_identifiers": ["NCBIGene:58498", "ENSEMBL:ENSG00000106631", "HGNC:21719", "OMIM:613993", "UMLS:C1427716", "UniProtKB:Q01449", "PR:Q01449", "ENSEMBL:ENSP00000223364", "ENSEMBL:ENSP00000223364.3"], "information_content": 92.8}
{"id": "UniProtKB:P35557-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hexokinase-4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P35557-2", "PR:P35557-2", "ENSEMBL:ENSP00000223366", "ENSEMBL:ENSP00000223366.2"], "information_content": 100.0}
{"id": "MONDO:0009251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fructose-1,6-bisphosphatase deficiency", "equivalent_identifiers": ["MONDO:0009251", "DOID:5204", "OMIM:229700", "orphanet:348", "UMLS:C0016756", "MESH:D015319", "MEDDRA:10081516", "NCIT:C128119", "SNOMEDCT:28183005", "medgen:42106", "ICD10:E74.19"], "information_content": 100.0}
{"id": "MONDO:0009252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fructosuria", "equivalent_identifiers": ["MONDO:0009252", "DOID:0111680", "OMIM:229800", "orphanet:2056", "UMLS:C0268160", "MESH:C538068", "MEDDRA:10015487", "SNOMEDCT:124299001", "SNOMEDCT:124300009", "SNOMEDCT:24338009", "SNOMEDCT:40278002", "medgen:78645", "icd11.foundation:1362211287", "ICD10:E74.11"], "information_content": 100.0}
{"id": "UniProtKB:O15498-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptobrevin homolog YKT6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15498-1", "PR:O15498-1", "ENSEMBL:ENSP00000223369", "ENSEMBL:ENSP00000223369.2", "ENSEMBL:ENSP00000504623", "ENSEMBL:ENSP00000504623.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UDT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CAP-Gly domain-containing linker protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UDT6-1", "PR:Q9UDT6-1", "ENSEMBL:ENSP00000223398", "ENSEMBL:ENSP00000223398.6"], "information_content": 100.0}
{"id": "MONDO:0042981", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic stenosis", "equivalent_identifiers": ["MONDO:0042981", "DOID:1712", "EFO:0000266", "UMLS:C0003507", "UMLS:C0155567", "MESH:D001024", "MEDDRA:10002906", "MEDDRA:10002918", "MEDDRA:10039047", "MEDDRA:10041974", "NCIT:C197952", "NCIT:C50462", "NCIT:C64938", "SNOMEDCT:420503003", "SNOMEDCT:60573004", "SNOMEDCT:72011007", "medgen:1621", "icd11.foundation:956813047", "ICD10:I06.0", "ICD10:Q23.0", "ICD9:395.0", "ICD9:746.3", "HP:0001650"], "information_content": 85.5}
{"id": "MONDO:0012000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "specific phobia", "equivalent_identifiers": ["MONDO:0012000", "DOID:599", "OMIM:608251", "EFO:1001918", "UMLS:C0236801", "MESH:C562465", "MEDDRA:10040704", "MEDDRA:10041446", "NCIT:C35284", "SNOMEDCT:54587008", "medgen:65932", "icd11.foundation:239513569", "ICD10:F40.2"], "information_content": 84.8}
{"id": "MONDO:0007614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital fibrosis of extraocular muscles", "equivalent_identifiers": ["MONDO:0007614", "DOID:0080143", "OMIM.PS:135700", "orphanet:45358", "UMLS:C1302995", "MESH:C580012", "SNOMEDCT:400946004", "medgen:724506", "icd11.foundation:887449084", "HP:0001491"], "information_content": 85.5}
{"id": "UniProtKB:P0C7X2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 688 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0C7X2-1", "PR:P0C7X2-1", "ENSEMBL:ENSP00000223459", "ENSEMBL:ENSP00000223459.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZZ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "charged multivesicular body protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZZ3-1", "PR:Q9NZZ3-1", "ENSEMBL:ENSP00000223500", "ENSEMBL:ENSP00000223500.7"], "information_content": 100.0}
{"id": "UniProtKB:O75072-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribitol-5-phosphate transferase FKTN isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75072-1", "PR:O75072-1", "ENSEMBL:ENSP00000223528", "ENSEMBL:ENSP00000223528.2", "ENSEMBL:ENSP00000350687", "ENSEMBL:ENSP00000350687.6"], "information_content": 100.0}
{"id": "NCBIGene:10952", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEC61B", "equivalent_identifiers": ["NCBIGene:10952", "ENSEMBL:ENSG00000106803", "HGNC:16993", "OMIM:609214", "UMLS:C1424679", "UniProtKB:P60468", "PR:P60468", "ENSEMBL:ENSP00000223641", "ENSEMBL:ENSP00000223641.4", "UMLS:C1567749", "MESH:C499388"], "information_content": 90.9}
{"id": "MONDO:0009889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive polycystic kidney disease", "equivalent_identifiers": ["MONDO:0009889", "DOID:0110861", "orphanet:731", "UMLS:C0085548", "MESH:D017044", "MEDDRA:10036047", "NCIT:C84579", "SNOMEDCT:28770003", "medgen:39076", "icd11.foundation:1424110943", "ICD10:Q61.1", "ICD9:753.14"], "information_content": 92.8}
{"id": "NCBIGene:727", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C5", "equivalent_identifiers": ["NCBIGene:727", "ENSEMBL:ENSG00000106804", "HGNC:1331", "OMIM:120900", "UMLS:C1367710", "UniProtKB:A0A8Q3SID6", "ENSEMBL:ENSP00000512521", "ENSEMBL:ENSP00000512521.1", "UniProtKB:P01031", "PR:P01031", "ENSEMBL:ENSP00000223642", "ENSEMBL:ENSP00000223642.1", "UMLS:C3890045", "UMLS:C5441695", "UniProtKB:Q59GS8"], "information_content": 89.4}
{"id": "MONDO:0012295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C5 Deficiency", "equivalent_identifiers": ["MONDO:0012295", "DOID:8158", "OMIM:609536", "UMLS:C0343047", "MESH:C537005", "MEDDRA:10075556", "NCIT:C9469", "SNOMEDCT:263661007", "medgen:91003"], "information_content": 90.9}
{"id": "MONDO:0013417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "C3 Deficiency", "equivalent_identifiers": ["MONDO:0013417", "DOID:8354", "OMIM:613779", "orphanet:280133", "UMLS:C1332655", "UMLS:C3151071", "MESH:C565169", "NCIT:C9468", "SNOMEDCT:771443008", "medgen:462421"], "information_content": 90.9}
{"id": "MONDO:0007004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type III hypersensitivity disease", "equivalent_identifiers": ["MONDO:0007004", "DOID:1557", "EFO:1001222", "UMLS:C0020951", "UMLS:C0301918", "MESH:D007105", "MEDDRA:10045265", "NCIT:C114346", "SNOMEDCT:83699005", "medgen:7021"], "information_content": 92.8}
{"id": "NCBIGene:944", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFSF8", "equivalent_identifiers": ["NCBIGene:944", "ENSEMBL:ENSG00000106952", "HGNC:11938", "OMIM:603875", "UMLS:C1420820", "UniProtKB:A0A087X228", "ENSEMBL:ENSP00000484651", "ENSEMBL:ENSP00000484651.1", "UniProtKB:P32971", "PR:P32971", "ENSEMBL:ENSP00000223795", "ENSEMBL:ENSP00000223795.2", "UMLS:C1671930", "MESH:C505774", "UniProtKB:Q52M88"], "information_content": 100.0}
{"id": "MONDO:0014278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 18", "equivalent_identifiers": ["MONDO:0014278", "DOID:0060017", "DOID:0111971", "OMIM:615615", "UMLS:C3810127", "UMLS:C3810128", "medgen:816457"], "information_content": 100.0}
{"id": "NCBIGene:203", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AK1", "equivalent_identifiers": ["NCBIGene:203", "ENSEMBL:ENSG00000106992", "HGNC:361", "OMIM:103000", "UMLS:C1412305", "UniProtKB:P00568", "PR:P00568", "ENSEMBL:ENSP00000362249", "ENSEMBL:ENSP00000362249.1", "ENSEMBL:ENSP00000494600", "ENSEMBL:ENSP00000494600.1", "UMLS:C2742912", "UniProtKB:Q5T9B7", "ENSEMBL:ENSP00000223836", "ENSEMBL:ENSP00000223836.10", "UniProtKB:Q6FGX9"]}
{"id": "UniProtKB:P04808-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prorelaxin H1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P04808-1", "PR:P04808-1", "ENSEMBL:ENSP00000223862", "ENSEMBL:ENSP00000223862.1"], "information_content": 100.0}
{"id": "NCBIGene:55848", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLGRKT", "equivalent_identifiers": ["NCBIGene:55848", "ENSEMBL:ENSG00000107020", "HGNC:23633", "OMIM:618444", "UMLS:C1428175", "UniProtKB:Q9HBL7", "PR:Q9HBL7", "ENSEMBL:ENSP00000223864", "ENSEMBL:ENSP00000223864.2", "UMLS:C2932708", "MESH:C548063"], "information_content": 95.4}
{"id": "UniProtKB:O60869-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endothelial differentiation-related factor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60869-1", "PR:O60869-1", "ENSEMBL:ENSP00000224073", "ENSEMBL:ENSP00000224073.1"], "information_content": 100.0}
{"id": "MONDO:0011799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 33", "equivalent_identifiers": ["MONDO:0011799", "DOID:0110492", "OMIM:607239", "UMLS:C1846576", "MESH:C564602", "medgen:335464"], "information_content": 100.0}
{"id": "MONDO:0013215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 79", "equivalent_identifiers": ["MONDO:0013215", "DOID:0110526", "OMIM:613307", "UMLS:C2750082", "MESH:C567651", "medgen:413222"], "information_content": 100.0}
{"id": "MONDO:0013114", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 50", "equivalent_identifiers": ["MONDO:0013114", "DOID:0110576", "OMIM:613074", "UMLS:C3888123", "medgen:854780"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z333-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable helicase senataxin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z333-1", "PR:Q7Z333-1", "ENSEMBL:ENSP00000224140", "ENSEMBL:ENSP00000224140.5"], "information_content": 100.0}
{"id": "MONDO:0010188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial isolated deficiency of vitamin E", "equivalent_identifiers": ["MONDO:0010188", "DOID:0090028", "OMIM:277460", "orphanet:96", "UMLS:C1848533", "MESH:C535393", "MEDDRA:10088735", "NCIT:C155996", "SNOMEDCT:702442008", "medgen:341248"], "information_content": 100.0}
{"id": "UniProtKB:Q8WV28-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-cell linker protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WV28-1", "PR:Q8WV28-1", "ENSEMBL:ENSP00000224337", "ENSEMBL:ENSP00000224337.6"], "information_content": 100.0}
{"id": "MONDO:0000050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Congenital IGHD", "equivalent_identifiers": ["MONDO:0000050", "DOID:0060870", "OMIM.PS:262400", "orphanet:631", "UMLS:C3714796", "UMLS:C5539399", "UMLS:C5679572", "NCIT:C112835", "SNOMEDCT:2109003", "medgen:1843308", "ICD10:E23.0", "ICD9:253.3", "HP:0000824"], "information_content": 85.5}
{"id": "UniProtKB:O43174-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 26A1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43174-1", "PR:O43174-1", "ENSEMBL:ENSP00000224356", "ENSEMBL:ENSP00000224356.4"], "information_content": 100.0}
{"id": "MONDO:0001046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anus absent", "equivalent_identifiers": ["MONDO:0001046", "DOID:10488", "OMIM:207500", "OMIM:301800", "UMLS:C0003466", "UMLS:C0577037", "MESH:D001006", "MEDDRA:10002120", "MEDDRA:10002853", "MEDDRA:10010330", "MEDDRA:10021528", "NCIT:C84784", "SNOMEDCT:204712000", "SNOMEDCT:204731006", "SNOMEDCT:300315008", "medgen:1997", "icd11.foundation:515168801", "ICD10:Q42.3", "HP:0002023"], "information_content": 95.4}
{"id": "MONDO:0008305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Currarino triad", "equivalent_identifiers": ["MONDO:0008305", "DOID:0111546", "OMIM:176450", "orphanet:1552", "UMLS:C1531773", "UMLS:C1867774", "UMLS:C1867775", "MESH:C536221", "MESH:C566762", "MEDDRA:10079857", "SNOMEDCT:413936007", "medgen:323460", "icd11.foundation:1532133816"], "information_content": 100.0}
{"id": "UniProtKB:O95260-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arginyl-tRNA--protein transferase 1 isoform hATE1-1 (human)", "equivalent_identifiers": ["UniProtKB:O95260-1", "PR:O95260-1", "ENSEMBL:ENSP00000224652", "ENSEMBL:ENSP00000224652.6"], "information_content": 100.0}
{"id": "MONDO:0012315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal 10q deletion syndrome", "equivalent_identifiers": ["MONDO:0012315", "DOID:0060390", "OMIM:609625", "orphanet:96148", "UMLS:C2674937", "UMLS:C4305277", "MESH:C567182", "SNOMEDCT:718687003", "medgen:436306", "ICD10:Q93.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9H251-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H251-1", "PR:Q9H251-1", "ENSEMBL:ENSP00000224721", "ENSEMBL:ENSP00000224721.9"], "information_content": 100.0}
{"id": "NCBIGene:59", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTA2", "equivalent_identifiers": ["NCBIGene:59", "ENSEMBL:ENSG00000107796", "HGNC:130", "OMIM:102620", "UMLS:C1412137", "UniProtKB:A0AAQ5BGG7", "ENSEMBL:ENSP00000518897", "ENSEMBL:ENSP00000518897.1", "UniProtKB:A0AAQ5BGI6", "ENSEMBL:ENSP00000518896", "ENSEMBL:ENSP00000518896.1", "UniProtKB:D2JYH4", "UniProtKB:P62736", "PR:P62736", "ENSEMBL:ENSP00000224784", "ENSEMBL:ENSP00000224784.6", "ENSEMBL:ENSP00000396730", "ENSEMBL:ENSP00000396730.2", "ENSEMBL:ENSP00000398239", "ENSEMBL:ENSP00000398239.2", "ENSEMBL:ENSP00000518893", "ENSEMBL:ENSP00000518893.1", "ENSEMBL:ENSP00000518895", "ENSEMBL:ENSP00000518895.1", "ENSEMBL:ENSP00000518898", "ENSEMBL:ENSP00000518898.1", "UMLS:C2716282", "MESH:C541116"], "information_content": 87.2}
{"id": "MONDO:0100354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MMIH Syndrome", "equivalent_identifiers": ["MONDO:0100354", "DOID:0060610", "OMIM:249210", "orphanet:2241", "UMLS:C5542316", "MESH:C536138", "NCIT:C98982", "SNOMEDCT:253781004", "medgen:1778116"], "information_content": 100.0}
{"id": "MONDO:0007032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prune belly", "equivalent_identifiers": ["MONDO:0007032", "DOID:0060889", "OMIM:100100", "orphanet:2970", "EFO:1001790", "UMLS:C0033770", "UMLS:C1721053", "MESH:D011535", "MESH:D053716", "MEDDRA:10051025", "MEDDRA:10051035", "MEDDRA:10051036", "NCIT:C85033", "SNOMEDCT:5187006", "SNOMEDCT:710072005", "medgen:18718", "icd11.foundation:1393408621", "ICD10:Q79.4", "HP:0004392"], "information_content": 100.0}
{"id": "MONDO:0008922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sengers syndrome", "equivalent_identifiers": ["MONDO:0008922", "DOID:0080132", "OMIM:212350", "orphanet:1369", "UMLS:C1859317", "MESH:C538280", "SNOMEDCT:717812000", "medgen:395228"], "information_content": 100.0}
{"id": "MONDO:0008846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atransferrinemia", "equivalent_identifiers": ["MONDO:0008846", "DOID:0050649", "OMIM:209300", "orphanet:1195", "UMLS:C0521802", "UMLS:C3277918", "MESH:C538259", "MEDDRA:10083970", "MEDDRA:10083978", "NCIT:C125693", "SNOMEDCT:111571009", "medgen:105489", "HP:0012239"], "information_content": 100.0}
{"id": "MONDO:0014958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Harel-Yoon syndrome", "equivalent_identifiers": ["MONDO:0014958", "DOID:0081395", "OMIM:617183", "orphanet:496790", "UMLS:C4310677", "SNOMEDCT:1172586007", "medgen:934644"], "information_content": 100.0}
{"id": "NCBIGene:79991", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STN1", "equivalent_identifiers": ["NCBIGene:79991", "ENSEMBL:ENSG00000107960", "HGNC:26200", "OMIM:613128", "UMLS:C1428560", "UniProtKB:Q9H668", "PR:Q9H668", "ENSEMBL:ENSP00000224950", "ENSEMBL:ENSP00000224950.3", "ENSEMBL:ENSP00000358779", "ENSEMBL:ENSP00000358779.1", "ENSEMBL:ENSP00000513621", "ENSEMBL:ENSP00000513621.1", "ENSEMBL:ENSP00000513622", "ENSEMBL:ENSP00000513622.1", "ENSEMBL:ENSP00000513623", "ENSEMBL:ENSP00000513623.1", "ENSEMBL:ENSP00000513657", "ENSEMBL:ENSP00000513657.1", "ENSEMBL:ENSP00000513658", "ENSEMBL:ENSP00000513658.1", "ENSEMBL:ENSP00000513664", "ENSEMBL:ENSP00000513664.1", "UMLS:C2742696", "MESH:C544946"], "information_content": 100.0}
{"id": "MONDO:0005046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immune system disorder", "equivalent_identifiers": ["MONDO:0005046", "DOID:2914", "EFO:0000540", "UMLS:C0021053", "UMLS:C0041806", "UMLS:C1532237", "MESH:D007154", "MEDDRA:10013229", "MEDDRA:10021418", "MEDDRA:10021425", "MEDDRA:10021426", "MEDDRA:10021427", "MEDDRA:10021428", "MEDDRA:10045792", "NCIT:C3507", "SNOMEDCT:41266007", "SNOMEDCT:414029004", "medgen:5759", "ICD10:D89.9", "ICD9:279.9"], "information_content": 50.9}
{"id": "UniProtKB:Q9UKB3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily C member 12 isoform a (human)", "equivalent_identifiers": ["UniProtKB:Q9UKB3-1", "PR:Q9UKB3-1", "ENSEMBL:ENSP00000225171", "ENSEMBL:ENSP00000225171.2"], "information_content": 100.0}
{"id": "MONDO:0009863", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BH4-deficient hyperphenylalaninemia A", "equivalent_identifiers": ["MONDO:0009863", "DOID:0090106", "OMIM:261640", "orphanet:13", "UMLS:C0878676", "UMLS:C2678415", "MESH:C535325", "MESH:C567493", "NCIT:C138171", "SNOMEDCT:237914002", "medgen:209234"], "information_content": 100.0}
{"id": "MONDO:0010379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brunner syndrome", "equivalent_identifiers": ["MONDO:0010379", "DOID:0060693", "OMIM:300615", "orphanet:3057", "UMLS:C0796275", "MESH:C563156", "MEDDRA:10081371", "SNOMEDCT:718210003", "medgen:208683", "ICD10:E70.8"], "information_content": 100.0}
{"id": "MONDO:0012084", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aromatic L-amino acid decarboxylase deficiency", "equivalent_identifiers": ["MONDO:0012084", "DOID:0090123", "OMIM:608643", "orphanet:35708", "UMLS:C0342686", "UMLS:C1291564", "MESH:C537437", "MEDDRA:10084110", "NCIT:C142085", "SNOMEDCT:124600004", "SNOMEDCT:237922009", "medgen:220945", "icd11.foundation:1134258245", "ICD10:E70.81"], "information_content": 100.0}
{"id": "MONDO:0100186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GTP cyclohydrolase I deficiency with hyperphenylalaninemia", "equivalent_identifiers": ["MONDO:0100186", "DOID:0112225", "OMIM:233910", "orphanet:2102", "NCIT:C141442", "SNOMEDCT:23447005"], "information_content": 100.0}
{"id": "UniProtKB:P30405-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidyl-prolyl cis-trans isomerase F, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30405-1", "PR:P30405-1", "ENSEMBL:ENSP00000225174", "ENSEMBL:ENSP00000225174.3"], "information_content": 100.0}
{"id": "NCBIGene:23232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBC1D12", "equivalent_identifiers": ["NCBIGene:23232", "ENSEMBL:ENSG00000108239", "HGNC:29082", "OMIM:620003", "UMLS:C1539934", "UniProtKB:O60347", "PR:O60347", "ENSEMBL:ENSP00000225235", "ENSEMBL:ENSP00000225235.4"], "information_content": 95.4}
{"id": "UniProtKB:P05164-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myeloperoxidase isoform hH17 (human)", "equivalent_identifiers": ["UniProtKB:P05164-1", "PR:P05164-1", "ENSEMBL:ENSP00000225275", "ENSEMBL:ENSP00000225275.3"], "information_content": 100.0}
{"id": "MONDO:0000748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mastoiditis", "equivalent_identifiers": ["MONDO:0000748", "DOID:0060322", "UMLS:C0024904", "MESH:D008417", "MEDDRA:10026900", "MEDDRA:10026902", "MEDDRA:10046004", "NCIT:C128368", "SNOMEDCT:52404001", "medgen:7480", "ICD10:H70.9", "ICD9:383.9", "HP:0000265"], "information_content": 95.4}
{"id": "MONDO:0001436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemosiderosis", "equivalent_identifiers": ["MONDO:0001436", "DOID:12119", "UMLS:C0019114", "MESH:D006486", "MEDDRA:10019024", "MEDDRA:10019613", "NCIT:C82892", "SNOMEDCT:39011001", "medgen:42409"], "information_content": 80.9}
{"id": "MONDO:0018310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Langerhans cell histiocytosis", "equivalent_identifiers": ["MONDO:0018310", "DOID:2571", "OMIM:604856", "orphanet:389", "EFO:1000318", "UMLS:C0019621", "UMLS:C0432547", "UMLS:C0432548", "UMLS:C0432549", "UMLS:C0432550", "UMLS:C0432551", "UMLS:C0432552", "UMLS:C0432553", "UMLS:C0432554", "UMLS:C5779774", "MESH:C538636", "MESH:D006646", "MEDDRA:10023688", "MEDDRA:10024266", "MEDDRA:10024267", "MEDDRA:10024268", "MEDDRA:10024269", "MEDDRA:10024270", "MEDDRA:10024271", "MEDDRA:10024272", "MEDDRA:10024273", "MEDDRA:10053133", "MEDDRA:10069698", "NCIT:C3107", "SNOMEDCT:110450007", "SNOMEDCT:65399007", "medgen:5568", "icd11.foundation:1388720498", "icd11.foundation:216625985", "ICD10:C96.0", "ICD10:C96.6", "ICD9:202.5"], "information_content": 80.2}
{"id": "MONDO:0004835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "necrotizing fasciitis", "equivalent_identifiers": ["MONDO:0004835", "DOID:9602", "UMLS:C0238124", "MESH:D019115", "MEDDRA:10016229", "MEDDRA:10028885", "MEDDRA:10028886", "MEDDRA:10055643", "MEDDRA:10055647", "MEDDRA:10056877", "MEDDRA:10056882", "NCIT:C84916", "SNOMEDCT:52486002", "medgen:66763", "ICD10:M72.6", "ICD9:728.86"], "information_content": 100.0}
{"id": "MONDO:0009490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Papillon-Lefevre disease", "equivalent_identifiers": ["MONDO:0009490", "DOID:3389", "OMIM:245000", "orphanet:678", "UMLS:C0030360", "MESH:D010214", "MEDDRA:10082856", "NCIT:C84992", "SNOMEDCT:40158001", "medgen:45306"], "information_content": 100.0}
{"id": "MONDO:0006831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukostasis", "equivalent_identifiers": ["MONDO:0006831", "DOID:12986", "EFO:1001016", "UMLS:C0282548", "MESH:D018921", "MEDDRA:10024404", "MEDDRA:10074608", "NCIT:C4062", "SNOMEDCT:30419000", "medgen:84394"], "information_content": 100.0}
{"id": "MONDO:0006660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthus reaction", "equivalent_identifiers": ["MONDO:0006660", "DOID:1556", "EFO:1000821", "UMLS:C0003907", "MESH:D001183", "MEDDRA:10003419", "MEDDRA:10003420", "NCIT:C34400", "SNOMEDCT:29548007", "SNOMEDCT:402413008", "medgen:2458", "ICD10:T78.41", "ICD9:995.21"], "information_content": 100.0}
{"id": "NCBIGene:10610", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ST6GALNAC2", "equivalent_identifiers": ["NCBIGene:10610", "ENSEMBL:ENSG00000070731", "HGNC:10867", "OMIM:610137", "UMLS:C1539868", "UniProtKB:Q9UJ37", "PR:Q9UJ37", "ENSEMBL:ENSP00000225276", "ENSEMBL:ENSP00000225276.4", "UMLS:C4307472", "MESH:C000613741"], "information_content": 92.8}
{"id": "MONDO:0005342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgA Nephropathy", "equivalent_identifiers": ["MONDO:0005342", "DOID:2986", "orphanet:34145", "EFO:0004194", "UMLS:C0017661", "UMLS:C3161650", "UMLS:C4025827", "MESH:D005922", "MEDDRA:10018369", "MEDDRA:10021263", "MEDDRA:10069341", "NCIT:C34643", "NCIT:C35280", "SNOMEDCT:236407003", "SNOMEDCT:68779003", "medgen:9032", "HP:0000794"], "information_content": 89.4}
{"id": "MONDO:0004375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "end stage renal failure", "equivalent_identifiers": ["MONDO:0004375", "DOID:783", "EFO:0009909", "UMLS:C2316810", "MEDDRA:10076412", "NCIT:C9439", "SNOMEDCT:433146000", "SNOMEDCT:46177005", "medgen:384526", "ICD9:585.6", "HP:0003774"], "information_content": 92.8}
{"id": "UniProtKB:Q9H6R0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent RNA helicase DHX33 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6R0-1", "PR:Q9H6R0-1", "ENSEMBL:ENSP00000225296", "ENSEMBL:ENSP00000225296.3"], "information_content": 100.0}
{"id": "UniProtKB:Q93086-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "P2X purinoceptor 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q93086-3", "PR:Q93086-3", "ENSEMBL:ENSP00000225328", "ENSEMBL:ENSP00000225328.5"], "information_content": 100.0}
{"id": "NCBIGene:8288", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPX", "equivalent_identifiers": ["NCBIGene:8288", "ENSEMBL:ENSG00000121053", "HGNC:3423", "OMIM:131399", "UMLS:C1414438", "UniProtKB:P11678", "PR:P11678", "ENSEMBL:ENSP00000225371", "ENSEMBL:ENSP00000225371.5", "UMLS:C5882254", "MESH:C000729328"], "information_content": 100.0}
{"id": "UniProtKB:P05813-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-crystallin A3 isoform A3 (human)", "equivalent_identifiers": ["UniProtKB:P05813-1", "PR:P05813-1", "ENSEMBL:ENSP00000225387", "ENSEMBL:ENSP00000225387.3"], "information_content": 100.0}
{"id": "MONDO:0012914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1q21.1 deletion syndrome", "equivalent_identifiers": ["MONDO:0012914", "DOID:0060411", "OMIM:612474", "orphanet:250989", "UMLS:C2675897", "MESH:C567291", "SNOMEDCT:699305004", "medgen:393913"], "information_content": 100.0}
{"id": "MONDO:0004896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esotropia", "equivalent_identifiers": ["MONDO:0004896", "DOID:9840", "UMLS:C0014877", "MESH:D004948", "MEDDRA:10010891", "MEDDRA:10010892", "MEDDRA:10015475", "MEDDRA:10015476", "NCIT:C34596", "SNOMEDCT:16596007", "medgen:4550", "icd11.foundation:459766644", "ICD10:H50.0", "ICD9:378.0", "HP:0000565"], "information_content": 82.6}
{"id": "MONDO:0012456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital primary aphakia", "equivalent_identifiers": ["MONDO:0012456", "DOID:0080607", "DOID:11367", "OMIM:610256", "orphanet:83461", "UMLS:C0152422", "UMLS:C1853230", "MESH:C537786", "MEDDRA:10002947", "MEDDRA:10010372", "NCIT:C35172", "SNOMEDCT:35387008", "medgen:339935", "icd11.foundation:885383581", "ICD10:Q12.3", "ICD9:743.35", "HP:0007707"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z417-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FMR1-interacting protein NUFIP2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z417-1", "PR:Q7Z417-1", "ENSEMBL:ENSP00000225388", "ENSEMBL:ENSP00000225388.3"], "information_content": 100.0}
{"id": "NCBIGene:6143", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL19", "equivalent_identifiers": ["NCBIGene:6143", "ENSEMBL:ENSG00000108298", "HGNC:10312", "OMIM:180466", "UMLS:C1335637", "UniProtKB:J3KTE4", "ENSEMBL:ENSP00000462938", "ENSEMBL:ENSP00000462938.1", "ENSEMBL:ENSP00000464538", "ENSEMBL:ENSP00000464538.1", "UMLS:C1454674", "MESH:C489092", "UniProtKB:P84098", "PR:P84098", "ENSEMBL:ENSP00000225430", "ENSEMBL:ENSP00000225430.4", "UMLS:C0073283"], "information_content": 87.2}
{"id": "UniProtKB:P09919-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "granulocyte colony-stimulating factor isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P09919-1", "PR:P09919-1", "ENSEMBL:ENSP00000225474", "ENSEMBL:ENSP00000225474.2"], "information_content": 100.0}
{"id": "MONDO:0005632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute chest syndrome", "equivalent_identifiers": ["MONDO:0005632", "DOID:1584", "EFO:0007129", "UMLS:C0742343", "MESH:D056586", "MEDDRA:10051895", "NCIT:C138179", "SNOMEDCT:372146004", "medgen:196643", "ICD9:517.3"], "information_content": 100.0}
{"id": "MONDO:0017364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "POEMS syndrome", "equivalent_identifiers": ["MONDO:0017364", "DOID:14039", "orphanet:2905", "EFO:1001115", "UMLS:C0085404", "MESH:D016878", "MEDDRA:10053869", "MEDDRA:10053915", "MEDDRA:10073023", "MEDDRA:10090598", "NCIT:C80303", "SNOMEDCT:79268002", "medgen:39276", "icd11.foundation:1555299114"], "information_content": 92.8}
{"id": "NCBIGene:6827", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUPT4H1", "equivalent_identifiers": ["NCBIGene:6827", "ENSEMBL:ENSG00000213246", "HGNC:11467", "OMIM:603555", "UMLS:C1420523", "UniProtKB:P63272", "PR:P63272", "ENSEMBL:ENSP00000225504", "ENSEMBL:ENSP00000225504.3", "ENSEMBL:ENSP00000462670", "ENSEMBL:ENSP00000462670.1", "UMLS:C0528742", "MESH:C481011"], "information_content": 89.4}
{"id": "NCBIGene:7473", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT3", "equivalent_identifiers": ["NCBIGene:7473", "ENSEMBL:ENSG00000108379", "HGNC:12782", "OMIM:165330", "UMLS:C1337001", "UniProtKB:P56703", "PR:P56703", "ENSEMBL:ENSP00000225512", "ENSEMBL:ENSP00000225512.5", "ENSEMBL:ENSP00000478327", "ENSEMBL:ENSP00000478327.1", "ENSEMBL:ENSP00000480990", "ENSEMBL:ENSP00000480990.1", "UMLS:C1504629", "MESH:C555507"], "information_content": 88.2}
{"id": "MONDO:0009232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fuhrmann syndrome", "equivalent_identifiers": ["MONDO:0009232", "DOID:0090067", "OMIM:228930", "orphanet:2854", "UMLS:C1856728", "MESH:C538189", "SNOMEDCT:721296004", "medgen:346429", "ICD10:Q74.8"], "information_content": 100.0}
{"id": "MONDO:0010592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal dermal hypoplasia", "equivalent_identifiers": ["MONDO:0010592", "DOID:2120", "OMIM:305600", "orphanet:2092", "UMLS:C0016395", "MESH:D005489", "NCIT:C84715", "SNOMEDCT:205573006", "medgen:42055", "icd11.foundation:683166625"], "information_content": 100.0}
{"id": "NCBIGene:23729", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SHPK", "equivalent_identifiers": ["NCBIGene:23729", "ENSEMBL:ENSG00000197417", "HGNC:1492", "OMIM:605060", "UMLS:C1413125", "UniProtKB:A0A0B4J2A0", "ENSEMBL:ENSP00000461416", "UMLS:C1438793", "MESH:C404793", "UniProtKB:Q9UHJ6", "PR:Q9UHJ6", "ENSEMBL:ENSP00000225519", "ENSEMBL:ENSP00000225519.3"], "information_content": 100.0}
{"id": "NCBIGene:30851", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAX1BP3", "equivalent_identifiers": ["NCBIGene:30851", "ENSEMBL:ENSG00000213977", "HGNC:30684", "OMIM:616484", "UMLS:C1539930", "UniProtKB:A0A087X282", "ENSEMBL:ENSP00000484776", "ENSEMBL:ENSP00000484776.1", "UMLS:C0964552", "MESH:C421249", "UniProtKB:O14907", "PR:O14907", "ENSEMBL:ENSP00000225525", "ENSEMBL:ENSP00000225525.3"], "information_content": 92.8}
{"id": "NCBIGene:5023", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "P2RX1", "equivalent_identifiers": ["NCBIGene:5023", "ENSEMBL:ENSG00000108405", "HGNC:8533", "OMIM:600845", "UMLS:C1418211", "UniProtKB:P51575", "PR:P51575", "ENSEMBL:ENSP00000225538", "ENSEMBL:ENSP00000225538.3"], "information_content": 95.4}
{"id": "MONDO:0011994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 41", "equivalent_identifiers": ["MONDO:0011994", "DOID:0110567", "OMIM:608224", "UMLS:C1842371", "MESH:C564272", "NCIT:C175700", "medgen:330834"], "information_content": 100.0}
{"id": "NCBIGene:8688", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT37", "equivalent_identifiers": ["NCBIGene:8688", "ENSEMBL:ENSG00000108417", "HGNC:6455", "OMIM:604541", "UMLS:C1825753", "UniProtKB:O76014", "PR:O76014", "ENSEMBL:ENSP00000225550", "ENSEMBL:ENSP00000225550.3", "ENSEMBL:ENSP00000458693", "ENSEMBL:ENSP00000458693.1", "ENSEMBL:ENSP00000517785", "ENSEMBL:ENSP00000517785.1", "UMLS:C1686493", "MESH:C507598"], "information_content": 100.0}
{"id": "MONDO:0007285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 1 multiple types", "equivalent_identifiers": ["MONDO:0007285", "DOID:0110231", "OMIM:116200", "UMLS:C1861828", "MESH:C566158", "medgen:349374"], "information_content": 100.0}
{"id": "MONDO:0011012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bantu siderosis", "equivalent_identifiers": ["MONDO:0011012", "DOID:0111033", "OMIM:601195", "orphanet:139507", "UMLS:C0268063", "MESH:C537904", "MEDDRA:10083876", "MEDDRA:10083888", "SNOMEDCT:66576001", "medgen:75649", "icd11.foundation:869212237"], "information_content": 100.0}
{"id": "UniProtKB:Q96ET8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi apparatus membrane protein TVP23 homolog C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96ET8-1", "PR:Q96ET8-1", "ENSEMBL:ENSP00000225576", "ENSEMBL:ENSP00000225576.3"], "information_content": 100.0}
{"id": "MONDO:0005425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "podoconiosis", "equivalent_identifiers": ["MONDO:0005425", "DOID:0050138", "EFO:0004712", "UMLS:C1280469", "MEDDRA:10090382", "SNOMEDCT:47595008", "SNOMEDCT:890181005", "medgen:473377"], "information_content": 95.4}
{"id": "UniProtKB:P23443-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal protein S6 kinase beta-1 isoform Alpha I (human)", "equivalent_identifiers": ["UniProtKB:P23443-1", "PR:P23443-1", "ENSEMBL:ENSP00000225577", "ENSEMBL:ENSP00000225577.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y2B2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2B2-1", "PR:Q9Y2B2-1", "ENSEMBL:ENSP00000225609", "ENSEMBL:ENSP00000225609.5"], "information_content": 100.0}
{"id": "MONDO:0011201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tremor, hereditary essential, 2", "equivalent_identifiers": ["MONDO:0011201", "DOID:0111429", "OMIM:602134", "UMLS:C1865810", "MESH:C536546", "medgen:356087"], "information_content": 100.0}
{"id": "MONDO:0015426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Desbuquois dysplasia", "equivalent_identifiers": ["MONDO:0015426", "DOID:0060462", "OMIM.PS:251450", "orphanet:1425", "UMLS:C0432242", "MESH:C535943", "NCIT:C124056", "SNOMEDCT:254099008", "medgen:98479"], "information_content": 92.8}
{"id": "NCBIGene:2584", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GALK1", "equivalent_identifiers": ["NCBIGene:2584", "ENSEMBL:ENSG00000108479", "HGNC:4118", "OMIM:604313", "UMLS:C1414948", "UniProtKB:P51570", "PR:P51570", "ENSEMBL:ENSP00000225614", "ENSEMBL:ENSP00000225614.1", "ENSEMBL:ENSP00000465930", "ENSEMBL:ENSP00000465930.1", "UMLS:C1450979", "MESH:C484715", "UniProtKB:V9HWE7"], "information_content": 88.2}
{"id": "MONDO:0011326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "citrullinemia, type II, adult-onset", "equivalent_identifiers": ["MONDO:0011326", "DOID:0070342", "OMIM:603471"], "information_content": 100.0}
{"id": "MONDO:0008918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carnitine-acylcarnitine translocase deficiency", "equivalent_identifiers": ["MONDO:0008918", "DOID:0111585", "OMIM:212138", "orphanet:159", "UMLS:C0342791", "MESH:C562812", "MEDDRA:10078729", "NCIT:C133086", "SNOMEDCT:238003000", "medgen:91000", "icd11.foundation:677949122"], "information_content": 100.0}
{"id": "NCBIGene:5216", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PFN1", "equivalent_identifiers": ["NCBIGene:5216", "ENSEMBL:ENSG00000108518", "HGNC:8881", "OMIM:176610", "UMLS:C1456390", "UniProtKB:P07737", "PR:P07737", "ENSEMBL:ENSP00000225655", "ENSEMBL:ENSP00000225655.5", "UMLS:C1565176", "MESH:C495738"], "information_content": 88.2}
{"id": "UniProtKB:Q02978-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial 2-oxoglutarate/malate carrier protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q02978-1", "PR:Q02978-1", "ENSEMBL:ENSP00000225665", "ENSEMBL:ENSP00000225665.7"], "information_content": 100.0}
{"id": "MONDO:0000448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paraganglioma", "equivalent_identifiers": ["MONDO:0000448", "DOID:0050773", "OMIM.PS:168000", "EFO:1000453", "UMLS:C0030421", "MESH:D010235", "MEDDRA:10033792", "MEDDRA:10061332", "MEDDRA:10073860", "NCIT:C3308", "SNOMEDCT:127027008", "SNOMEDCT:253029009", "SNOMEDCT:302833002", "SNOMEDCT:72787006", "SNOMEDCT:803009", "medgen:10571", "HP:0002668"], "information_content": 69.7}
{"id": "MONDO:0016748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemangioblastoma", "equivalent_identifiers": ["MONDO:0016748", "DOID:5241", "orphanet:252054", "UMLS:C0206734", "MESH:D018325", "MEDDRA:10018813", "MEDDRA:10019385", "NCIT:C3801", "SNOMEDCT:1156474009", "SNOMEDCT:81201000", "medgen:104929", "HP:0010797"], "information_content": 83.1}
{"id": "UniProtKB:Q9Y272-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dexamethasone-induced Ras-related protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y272-1", "PR:Q9Y272-1", "ENSEMBL:ENSP00000225688", "ENSEMBL:ENSP00000225688.3"], "information_content": 100.0}
{"id": "MONDO:0012574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Potocki-Lupski syndrome", "equivalent_identifiers": ["MONDO:0012574", "DOID:0060853", "OMIM:610883", "orphanet:1713", "UMLS:C2931246", "MESH:C538355", "NCIT:C124846", "SNOMEDCT:734016004", "medgen:444010", "icd11.foundation:1720095972"], "information_content": 100.0}
{"id": "MONDO:0008434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Smith-Magenis syndrome", "equivalent_identifiers": ["MONDO:0008434", "DOID:0060768", "OMIM:182290", "orphanet:819", "UMLS:C0795864", "UMLS:C1866927", "MESH:D058496", "MEDDRA:10081680", "NCIT:C75469", "SNOMEDCT:401315004", "medgen:162881", "icd11.foundation:989025532"], "information_content": 100.0}
{"id": "NCBIGene:708", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1QBP", "equivalent_identifiers": ["NCBIGene:708", "ENSEMBL:ENSG00000108561", "HGNC:1243", "OMIM:601269", "UMLS:C1412933", "UniProtKB:Q07021", "PR:Q07021", "ENSEMBL:ENSP00000225698", "ENSEMBL:ENSP00000225698.4", "UMLS:C1456817", "MESH:C087299"], "information_content": 89.4}
{"id": "MONDO:0054677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 33", "equivalent_identifiers": ["MONDO:0054677", "DOID:0111495", "OMIM:617713", "EFO:0009159", "UMLS:C4540209", "NCIT:C174440", "medgen:1623699"], "information_content": 100.0}
{"id": "UniProtKB:O95249-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi SNAP receptor complex member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95249-1", "PR:O95249-1", "ENSEMBL:ENSP00000225724", "ENSEMBL:ENSP00000225724.5"], "information_content": 100.0}
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{"id": "NCBIGene:3882", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT32", "equivalent_identifiers": ["NCBIGene:3882", "ENSEMBL:ENSG00000108759", "HGNC:6449", "OMIM:602760", "UMLS:C1416749", "UniProtKB:Q14532", "PR:Q14532", "ENSEMBL:ENSP00000225899", "ENSEMBL:ENSP00000225899.3", "UMLS:C1672850", "MESH:C507593"], "information_content": 100.0}
{"id": "DOID:0070480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schwannomatosis 1", "equivalent_identifiers": ["DOID:0070480", "UMLS:C5670707", "NCIT:C186703"], "information_content": 92.8}
{"id": "UniProtKB:Q92830-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone acetyltransferase KAT2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92830-1", "PR:Q92830-1", "ENSEMBL:ENSP00000225916", "ENSEMBL:ENSP00000225916.5"], "information_content": 100.0}
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{"id": "NCBIGene:4669", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAGLU", "equivalent_identifiers": ["NCBIGene:4669", "ENSEMBL:ENSG00000108784", "HGNC:7632", "OMIM:609701", "UMLS:C1417593", "UniProtKB:A0A140VJE4", "UniProtKB:P54802", "PR:P54802", "ENSEMBL:ENSP00000225927", "ENSEMBL:ENSP00000225927.1", "UMLS:C5891059"], "information_content": 86.3}
{"id": "MONDO:0009656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 3B", "equivalent_identifiers": ["MONDO:0009656", "DOID:0111394", "OMIM:252920", "orphanet:79270", "UMLS:C0086648", "NCIT:C84898", "SNOMEDCT:59990008", "medgen:88601", "icd11.foundation:117303909"], "information_content": 100.0}
{"id": "MONDO:0009658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MPS III D", "equivalent_identifiers": ["MONDO:0009658", "DOID:0111402", "OMIM:252940", "orphanet:79272", "UMLS:C0086650", "NCIT:C84900", "SNOMEDCT:15892005", "medgen:88602", "icd11.foundation:1780990193"], "information_content": 100.0}
{"id": "MONDO:0009659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 4A", "equivalent_identifiers": ["MONDO:0009659", "DOID:0111391", "OMIM:253000", "orphanet:309297", "UMLS:C0086651", "NCIT:C84901", "SNOMEDCT:130197005", "SNOMEDCT:7259005", "medgen:43375", "icd11.foundation:1919173641", "ICD10:E76.210"], "information_content": 100.0}
{"id": "MONDO:0001586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 1", "equivalent_identifiers": ["MONDO:0001586", "DOID:12802", "orphanet:579", "UMLS:C0023786", "MESH:D008059", "MEDDRA:10056886", "NCIT:C85053", "SNOMEDCT:75610003", "medgen:44171", "icd11.foundation:1539226250"], "information_content": 88.2}
{"id": "MONDO:0010674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hunter Syndrome", "equivalent_identifiers": ["MONDO:0010674", "DOID:12799", "OMIM:309900", "orphanet:580", "orphanet:79388", "UMLS:C0026705", "MESH:D016532", "MEDDRA:10056889", "MEDDRA:10056917", "NCIT:C61260", "SNOMEDCT:70737009", "medgen:7734", "icd11.foundation:1056274204", "ICD10:E76.1"], "information_content": 92.8}
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{"id": "MONDO:0019280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrichosis", "equivalent_identifiers": ["MONDO:0019280", "DOID:420", "orphanet:79365", "UMLS:C0020555", "UMLS:C4732731", "MESH:D006983", "MEDDRA:10020863", "MEDDRA:10020864", "MEDDRA:10086660", "NCIT:C79597", "SNOMEDCT:271607001", "SNOMEDCT:29966009", "medgen:43787", "icd11.foundation:2042627850", "ICD10:L68", "HP:0000998"], "information_content": 79.3}
{"id": "MONDO:0005817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kluver-Bucy syndrome", "equivalent_identifiers": ["MONDO:0005817", "DOID:2510", "orphanet:157823", "EFO:0007335", "UMLS:C0270707", "UMLS:C1741120", "MESH:D020232", "MEDDRA:10066431", "NCIT:C84802", "SNOMEDCT:10651001", "medgen:124361"], "information_content": 100.0}
{"id": "NCBIGene:3292", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSD17B1", "equivalent_identifiers": ["NCBIGene:3292", "ENSEMBL:ENSG00000108786", "HGNC:5210", "OMIM:109684", "UMLS:C1415738", "UniProtKB:A0A0A0MQS7", "ENSEMBL:ENSP00000225929", "ENSEMBL:ENSP00000225929.5", "UniProtKB:P14061", "PR:P14061", "ENSEMBL:ENSP00000466799", "ENSEMBL:ENSP00000466799.1", "UMLS:C1738873", "MESH:C513331"]}
{"id": "MONDO:0006266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leydig cell tumor", "equivalent_identifiers": ["MONDO:0006266", "DOID:2696", "EFO:1000321", "UMLS:C0023601", "UMLS:C4022011", "MESH:D007984", "NCIT:C3188", "medgen:9747", "HP:0100618"], "information_content": 85.5}
{"id": "UniProtKB:Q9P2A4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ABI gene family member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2A4-1", "PR:Q9P2A4-1", "ENSEMBL:ENSP00000225941", "ENSEMBL:ENSP00000225941.1"], "information_content": 100.0}
{"id": "DOID:3204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schwannomatosis", "equivalent_identifiers": ["DOID:3204", "UMLS:C1335929", "MESH:C536641", "NCIT:C6557", "ICD10:Q85.03", "ICD9:237.73"], "information_content": 87.2}
{"id": "MONDO:0033551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 72 with autoinflammation", "equivalent_identifiers": ["MONDO:0033551", "DOID:0112015", "OMIM:618982", "UMLS:C5436540", "medgen:1749856"], "information_content": 100.0}
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{"id": "NCBIGene:1949", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EFNB3", "equivalent_identifiers": ["NCBIGene:1949", "ENSEMBL:ENSG00000108947", "HGNC:3228", "OMIM:602297", "UMLS:C1414307", "UniProtKB:Q15768", "PR:Q15768", "ENSEMBL:ENSP00000226091", "ENSEMBL:ENSP00000226091.2"], "information_content": 89.4}
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{"id": "NCBIGene:5957", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RCVRN", "equivalent_identifiers": ["NCBIGene:5957", "ENSEMBL:ENSG00000109047", "HGNC:9937", "OMIM:179618", "UMLS:C1419326", "UniProtKB:P35243", "PR:P35243", "ENSEMBL:ENSP00000226193", "ENSEMBL:ENSP00000226193.5", "UMLS:C1505570", "MESH:C496731"], "information_content": 95.4}
{"id": "MONDO:0002708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis", "equivalent_identifiers": ["MONDO:0002708", "DOID:3612", "UMLS:C0035333", "MESH:D012173", "MEDDRA:10038910", "MEDDRA:10038913", "NCIT:C115993", "SNOMEDCT:399463004", "medgen:19765", "HP:0032118"], "information_content": 87.2}
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{"id": "MONDO:0011128", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sheldon-hall syndrome", "equivalent_identifiers": ["MONDO:0011128", "DOID:0111599", "orphanet:1147", "UMLS:C1834523", "MESH:C538400", "SNOMEDCT:715216008", "medgen:320374", "icd11.foundation:1206883656"], "information_content": 90.9}
{"id": "NCBIGene:7448", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VTN", "equivalent_identifiers": ["NCBIGene:7448", "ENSEMBL:ENSG00000109072", "HGNC:12724", "OMIM:193190", "UMLS:C1336937", "UniProtKB:D9ZGG2", "UniProtKB:P04004", "PR:P04004", "ENSEMBL:ENSP00000226218", "ENSEMBL:ENSP00000226218.4", "UMLS:C4281807"], "information_content": 73.8}
{"id": "MONDO:0007472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal laminar drusen", "equivalent_identifiers": ["MONDO:0007472", "DOID:0060746", "OMIM:126700", "UMLS:C0730295", "MESH:C563034", "SNOMEDCT:312926005", "medgen:152676"], "information_content": 100.0}
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{"id": "UniProtKB:Q13829-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13829-1", "PR:Q13829-1", "ENSEMBL:ENSP00000226225", "ENSEMBL:ENSP00000226225.2"], "information_content": 100.0}
{"id": "NCBIGene:27346", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM97", "equivalent_identifiers": ["NCBIGene:27346", "ENSEMBL:ENSG00000109084", "HGNC:28106", "OMIM:612912", "UMLS:C1823357", "UniProtKB:Q5BJF2", "PR:Q5BJF2", "ENSEMBL:ENSP00000226230", "ENSEMBL:ENSP00000226230.6", "UMLS:C1870051", "MESH:C516615"], "information_content": 100.0}
{"id": "NCBIGene:8456", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXN1", "equivalent_identifiers": ["NCBIGene:8456", "ENSEMBL:ENSG00000109101", "HGNC:12765", "OMIM:600838", "UMLS:C1421504", "UniProtKB:O15353", "PR:O15353", "ENSEMBL:ENSP00000226247", "ENSEMBL:ENSP00000226247.2", "ENSEMBL:ENSP00000462159", "ENSEMBL:ENSP00000462159.2", "ENSEMBL:ENSP00000464645", "ENSEMBL:ENSP00000464645.1", "UMLS:C1568431"], "information_content": 95.4}
{"id": "MONDO:0004195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thymic dysplasia", "equivalent_identifiers": ["MONDO:0004195", "DOID:7350", "UMLS:C1331541", "NCIT:C27802", "medgen:231314"], "information_content": 100.0}
{"id": "MONDO:0014390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 13", "equivalent_identifiers": ["MONDO:0014390", "DOID:0110710", "OMIM:615896", "UMLS:C4014616", "medgen:863053"], "information_content": 100.0}
{"id": "MONDO:0100522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 4", "equivalent_identifiers": ["MONDO:0100522", "DOID:0110701", "OMIM:146550", "UMLS:C2750815", "MESH:C567718", "medgen:413053"], "information_content": 100.0}
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{"id": "UniProtKB:Q6IE81-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Jade-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IE81-1", "PR:Q6IE81-1", "ENSEMBL:ENSP00000226319", "ENSEMBL:ENSP00000226319.6", "ENSEMBL:ENSP00000425730", "ENSEMBL:ENSP00000425730.1", "ENSEMBL:ENSP00000482212", "ENSEMBL:ENSP00000482212.1", "ENSEMBL:ENSP00000483219", "ENSEMBL:ENSP00000483219.1"], "information_content": 100.0}
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{"id": "MONDO:0004267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "squamous papillomatosis", "equivalent_identifiers": ["MONDO:0004267", "DOID:7532", "UMLS:C1378340", "NCIT:C9009", "medgen:235130"], "information_content": 90.9}
{"id": "NCBIGene:8929", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHOX2B", "equivalent_identifiers": ["NCBIGene:8929", "ENSEMBL:ENSG00000109132", "HGNC:9143", "OMIM:603851", "UMLS:C1418697", "UniProtKB:Q99453", "PR:Q99453", "ENSEMBL:ENSP00000226382", "ENSEMBL:ENSP00000226382.2", "UMLS:C3273593"], "information_content": 92.8}
{"id": "MONDO:0006076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal gland neuroblastoma", "equivalent_identifiers": ["MONDO:0006076", "DOID:5718", "EFO:1000075", "UMLS:C0559460", "NCIT:C4827", "SNOMEDCT:281562007", "medgen:154328"], "information_content": 95.4}
{"id": "MONDO:0005864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscle cancer", "equivalent_identifiers": ["MONDO:0005864", "DOID:4045", "EFO:0007384", "UMLS:C0027095", "UMLS:C0684743", "MESH:D009217", "MEDDRA:10050530", "MEDDRA:10062050", "NCIT:C4883", "SNOMEDCT:20667008", "SNOMEDCT:363495004", "medgen:151927"], "information_content": 63.8}
{"id": "MONDO:0009341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mowat-Wilson syndrome", "equivalent_identifiers": ["MONDO:0009341", "DOID:0060485", "OMIM:235730", "orphanet:2152", "UMLS:C1856113", "MESH:C536990", "NCIT:C74999", "SNOMEDCT:703535000", "medgen:341067", "icd11.foundation:1985672762"], "information_content": 92.8}
{"id": "MONDO:0012280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Goldberg-Shprintzen syndrome", "equivalent_identifiers": ["MONDO:0012280", "DOID:0060481", "OMIM:609460", "orphanet:66629", "UMLS:C1836123", "MESH:C537279", "SNOMEDCT:717822006", "medgen:332131"], "information_content": 100.0}
{"id": "UniProtKB:P30968-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gonadotropin-releasing hormone receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30968-1", "PR:P30968-1", "ENSEMBL:ENSP00000226413", "ENSEMBL:ENSP00000226413.5"], "information_content": 100.0}
{"id": "MONDO:0000358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft", "equivalent_identifiers": ["MONDO:0000358", "DOID:0050567", "OMIM.PS:119530", "UMLS:C3266076", "SNOMEDCT:449790007", "medgen:472000"], "information_content": 76.5}
{"id": "MONDO:0008303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Testotoxicosis", "equivalent_identifiers": ["MONDO:0008303", "DOID:0111545", "OMIM:176410", "orphanet:3000", "UMLS:C0342549", "UMLS:C1504412", "UMLS:C2674612", "MESH:C536961", "MESH:C567168", "MEDDRA:10063654", "MEDDRA:10063656", "SNOMEDCT:237818003", "SNOMEDCT:725295005", "medgen:87444"], "information_content": 100.0}
{"id": "NCBIGene:80157", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CWH43", "equivalent_identifiers": ["NCBIGene:80157", "ENSEMBL:ENSG00000109182", "HGNC:26133", "OMIM:618561", "UMLS:C2829196", "UniProtKB:B4DU47", "UMLS:C5564668", "MESH:C000720608", "UniProtKB:B7ZAJ2", "UniProtKB:E7EQL2", "ENSEMBL:ENSP00000422802", "ENSEMBL:ENSP00000422802.1", "UniProtKB:Q9H720", "PR:Q9H720", "ENSEMBL:ENSP00000226432", "ENSEMBL:ENSP00000226432.4"], "information_content": 95.4}
{"id": "MONDO:0016596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperphosphatasia-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0016596", "DOID:0070431", "OMIM.PS:239300", "orphanet:247262", "UMLS:C1855923", "MESH:C565495", "SNOMEDCT:33982008", "medgen:383800"], "information_content": 87.2}
{"id": "MONDO:0014350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 8", "equivalent_identifiers": ["MONDO:0014350", "DOID:0070009", "OMIM:615807", "UMLS:C3891452", "medgen:856014"], "information_content": 100.0}
{"id": "NCBIGene:6783", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SULT1E1", "equivalent_identifiers": ["NCBIGene:6783", "ENSEMBL:ENSG00000109193", "HGNC:11377", "OMIM:600043", "UMLS:C1420459", "UniProtKB:P49888", "PR:P49888", "ENSEMBL:ENSP00000226444", "ENSEMBL:ENSP00000226444.3", "UMLS:C1740191", "UniProtKB:Q53X91"], "information_content": 100.0}
{"id": "NCBIGene:26952", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMR3A", "equivalent_identifiers": ["NCBIGene:26952", "ENSEMBL:ENSG00000109208", "HGNC:19216", "OMIM:618340", "UMLS:C1539793", "UniProtKB:Q99954", "PR:Q99954", "ENSEMBL:ENSP00000226460", "ENSEMBL:ENSP00000226460.4"], "information_content": 100.0}
{"id": "MONDO:0008410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Scheuermann disease", "equivalent_identifiers": ["MONDO:0008410", "DOID:13300", "OMIM:181440", "UMLS:C0036310", "MESH:D012544", "MEDDRA:10023263", "MEDDRA:10039594", "MEDDRA:10078680", "NCIT:C34999", "SNOMEDCT:53406005", "medgen:19885", "ICD10:M42.0", "ICD9:732.0", "HP:0010891"], "information_content": 95.4}
{"id": "MONDO:0005362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "impotence", "equivalent_identifiers": ["MONDO:0005362", "DOID:1875", "EFO:0004234", "UMLS:C0242350", "MESH:D007172", "MEDDRA:10015116", "MEDDRA:10015118", "MEDDRA:10021550", "MEDDRA:10021552", "MEDDRA:10025503", "MEDDRA:10052003", "MEDDRA:10061461", "NCIT:C3133", "SNOMEDCT:397803000", "SNOMEDCT:860914002", "medgen:66879", "HP:0000802"], "information_content": 88.2}
{"id": "MONDO:0004745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "priapism", "equivalent_identifiers": ["MONDO:0004745", "DOID:9286", "orphanet:140949", "UMLS:C0033117", "MESH:D011317", "MEDDRA:10036661", "NCIT:C85022", "SNOMEDCT:6273006", "medgen:19462", "icd11.foundation:1983776037", "ICD10:N48.3", "ICD9:607.3", "HP:0200023"], "information_content": 95.4}
{"id": "MONDO:0007338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft soft palate", "equivalent_identifiers": ["MONDO:0007338", "DOID:0110214", "OMIM:119570", "orphanet:99772", "UMLS:C0432098", "MESH:C562950", "MEDDRA:10009270", "SNOMEDCT:253997002", "medgen:98471", "icd11.foundation:797497023", "HP:0000185"], "information_content": 87.2}
{"id": "MONDO:0006970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sialolithiasis", "equivalent_identifiers": ["MONDO:0006970", "DOID:12905", "EFO:1001180", "UMLS:C0036091", "MESH:D015494", "MEDDRA:10007023", "MEDDRA:10039394", "MEDDRA:10040631", "SNOMEDCT:28826002", "medgen:48536", "icd11.foundation:1984849248", "ICD10:K11.5", "ICD9:527.5"], "information_content": 100.0}
{"id": "NCBIGene:5197", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PF4V1", "equivalent_identifiers": ["NCBIGene:5197", "ENSEMBL:ENSG00000109272", "HGNC:8862", "OMIM:173461", "UMLS:C1418480", "UniProtKB:P10720", "PR:P10720", "ENSEMBL:ENSP00000226524", "ENSEMBL:ENSP00000226524.3", "UMLS:C1563378", "MESH:C064936"], "information_content": 95.4}
{"id": "UniProtKB:P19838-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor NF-kappa-B p105 subunit isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P19838-2", "PR:P19838-2", "ENSEMBL:ENSP00000226574", "ENSEMBL:ENSP00000226574.4", "ENSEMBL:ENSP00000423877", "ENSEMBL:ENSP00000423877.2"], "information_content": 100.0}
{"id": "MONDO:0005823", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "legionellosis", "equivalent_identifiers": ["MONDO:0005823", "DOID:10458", "orphanet:549", "orphanet:600832", "EFO:0007342", "UMLS:C0023240", "MESH:D007876", "MEDDRA:10024179", "MEDDRA:10050919", "MEDDRA:10061266", "NCIT:C128334", "SNOMEDCT:26726000", "medgen:7292", "icd11.foundation:390042715", "icd11.foundation:424434722"], "information_content": 90.9}
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{"id": "NCBIGene:7466", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WFS1", "equivalent_identifiers": ["NCBIGene:7466", "ENSEMBL:ENSG00000109501", "HGNC:12762", "OMIM:606201", "UMLS:C1421501", "UniProtKB:A0A0S2Z4V6", "UMLS:C1610897", "UniProtKB:O76024", "PR:O76024", "ENSEMBL:ENSP00000226760", "ENSEMBL:ENSP00000226760.1", "ENSEMBL:ENSP00000423337", "ENSEMBL:ENSP00000423337.1", "ENSEMBL:ENSP00000506978", "ENSEMBL:ENSP00000506978.1"], "information_content": 92.8}
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{"id": "MONDO:0014720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant optic atrophy plus syndrome", "equivalent_identifiers": ["MONDO:0014720", "DOID:0111340", "orphanet:1215", "SNOMEDCT:715374003", "icd11.foundation:1149710475"], "information_content": 89.4}
{"id": "UniProtKB:Q9NY12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H/ACA ribonucleoprotein complex subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY12-1", "PR:Q9NY12-1", "ENSEMBL:ENSP00000226796", "ENSEMBL:ENSP00000226796.6", "ENSEMBL:ENSP00000378127", "ENSEMBL:ENSP00000378127.3"], "information_content": 100.0}
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{"id": "NCBIGene:2483", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FRG1", "equivalent_identifiers": ["NCBIGene:2483", "ENSEMBL:ENSG00000109536", "HGNC:3954", "OMIM:601278", "UMLS:C1414815", "UniProtKB:Q14331", "PR:Q14331", "ENSEMBL:ENSP00000226798", "ENSEMBL:ENSP00000226798.4", "ENSEMBL:ENSP00000483471", "ENSEMBL:ENSP00000483471.1", "ENSEMBL:ENSP00000489690", "ENSEMBL:ENSP00000489690.1", "ENSEMBL:ENSP00000490541", "ENSEMBL:ENSP00000490541.1", "UMLS:C1438304", "MESH:C101270"], "information_content": 90.9}
{"id": "MONDO:0014214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 8 with or without polydactyly", "equivalent_identifiers": ["MONDO:0014214", "DOID:0110094", "OMIM:615503", "UMLS:C3809691", "medgen:816021"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z7G1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytokine-dependent hematopoietic cell linker isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z7G1-1", "PR:Q7Z7G1-1", "ENSEMBL:ENSP00000226951", "ENSEMBL:ENSP00000226951.6"], "information_content": 100.0}
{"id": "MONDO:0005393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gout", "equivalent_identifiers": ["MONDO:0005393", "DOID:13189", "EFO:0004274", "UMLS:C0003868", "UMLS:C0018099", "MESH:D006073", "MESH:D015210", "MEDDRA:10003257", "MEDDRA:10003435", "MEDDRA:10018627", "MEDDRA:10018633", "MEDDRA:10018634", "MEDDRA:10018635", "NCIT:C34650", "SNOMEDCT:170733007", "SNOMEDCT:190828008", "SNOMEDCT:48440001", "SNOMEDCT:90560007", "medgen:42280", "icd11.foundation:395622227", "ICD10:M10", "ICD9:274", "ICD9:274.0", "HP:0001997"], "information_content": 85.5}
{"id": "UniProtKB:A5PLN7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM149A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:A5PLN7-2", "PR:A5PLN7-2", "ENSEMBL:ENSP00000227065", "ENSEMBL:ENSP00000227065.4", "ENSEMBL:ENSP00000424380", "ENSEMBL:ENSP00000424380.1", "ENSEMBL:ENSP00000426835", "ENSEMBL:ENSP00000426835.1", "ENSEMBL:ENSP00000427155", "ENSEMBL:ENSP00000427155.1"], "information_content": 100.0}
{"id": "MONDO:0008030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facioscapulohumeral muscular dystrophy 1", "equivalent_identifiers": ["MONDO:0008030", "DOID:0111192", "OMIM:158900", "UMLS:C1834673", "UMLS:C5399970", "MESH:C536391", "NCIT:C172704", "medgen:1727901"], "information_content": 100.0}
{"id": "MONDO:0012864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 2q32-q33 deletion syndrome", "equivalent_identifiers": ["MONDO:0012864", "DOID:0060428", "OMIM:612313", "orphanet:251019", "orphanet:576283", "UMLS:C2676739", "UMLS:C4304531", "MESH:C567350", "SNOMEDCT:719659003", "medgen:436765"], "information_content": 100.0}
{"id": "MONDO:0016256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hennekam syndrome", "equivalent_identifiers": ["MONDO:0016256", "DOID:0060366", "OMIM.PS:235510", "orphanet:2136", "UMLS:C0340834", "MESH:C537255", "SNOMEDCT:234146006", "medgen:137946"], "information_content": 90.9}
{"id": "UniProtKB:P27701-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD82 antigen isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P27701-1", "PR:P27701-1", "ENSEMBL:ENSP00000227155", "ENSEMBL:ENSP00000227155.4"], "information_content": 100.0}
{"id": "MONDO:0001835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Facial Paresis", "equivalent_identifiers": ["MONDO:0001835", "DOID:13934", "UMLS:C0015469", "UMLS:C0427055", "MESH:D005158", "MEDDRA:10016044", "MEDDRA:10016060", "MEDDRA:10016062", "MEDDRA:10033808", "MEDDRA:10051267", "MEDDRA:10051271", "MEDDRA:10051272", "MEDDRA:10082051", "NCIT:C78290", "SNOMEDCT:280816001", "SNOMEDCT:95666008", "medgen:5101", "HP:0007209"], "information_content": 89.4}
{"id": "UniProtKB:P17947-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor PU.1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P17947-2", "PR:P17947-2", "ENSEMBL:ENSP00000227163", "ENSEMBL:ENSP00000227163.4"], "information_content": 100.0}
{"id": "MONDO:0018626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paratyphoid fever", "equivalent_identifiers": ["MONDO:0018626", "DOID:3055", "orphanet:443227", "EFO:0007420", "UMLS:C0030528", "UMLS:C0343375", "UMLS:C0343376", "UMLS:C0343377", "MESH:D010284", "MEDDRA:10033970", "MEDDRA:10033971", "MEDDRA:10033972", "MEDDRA:10033973", "MEDDRA:10033974", "MEDDRA:10033975", "MEDDRA:10039441", "NCIT:C34894", "NCIT:C34895", "NCIT:C34896", "NCIT:C34897", "SNOMEDCT:51254007", "SNOMEDCT:71085009", "SNOMEDCT:76623002", "SNOMEDCT:85904008", "medgen:18303", "icd11.foundation:1780040028", "ICD10:A01.1", "ICD10:A01.2", "ICD10:A01.3", "ICD10:A01.4", "ICD9:002.1", "ICD9:002.2", "ICD9:002.3", "ICD9:002.9"], "information_content": 90.9}
{"id": "MONDO:0850812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dendritic cell deficiency", "equivalent_identifiers": ["MONDO:0850812", "DOID:0111963", "UMLS:C4746814", "medgen:1656300"], "information_content": 100.0}
{"id": "UniProtKB:P53634-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dipeptidyl peptidase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P53634-1", "PR:P53634-1", "ENSEMBL:ENSP00000227266", "ENSEMBL:ENSP00000227266.4"], "information_content": 100.0}
{"id": "MONDO:0006999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth disorder", "equivalent_identifiers": ["MONDO:0006999", "DOID:1091", "EFO:1001216", "UMLS:C0040435", "UMLS:C1704330", "MESH:D014076", "MEDDRA:10012322", "MEDDRA:10013276", "MEDDRA:10044034", "MEDDRA:10044035", "NCIT:C35077", "SNOMEDCT:105995000", "SNOMEDCT:234947003", "medgen:11852"], "information_content": 67.4}
{"id": "NCBIGene:8882", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZPR1", "equivalent_identifiers": ["NCBIGene:8882", "ENSEMBL:ENSG00000109917", "HGNC:13051", "OMIM:603901", "UMLS:C1421745", "UniProtKB:O75312", "PR:O75312", "ENSEMBL:ENSP00000227322", "ENSEMBL:ENSP00000227322.3", "UMLS:C1448984", "MESH:C099746"], "information_content": 90.9}
{"id": "UniProtKB:O95727-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytotoxic and regulatory T-cell molecule isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95727-1", "PR:O95727-1", "ENSEMBL:ENSP00000227348", "ENSEMBL:ENSP00000227348.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6NUN7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Jhy protein homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NUN7-1", "PR:Q6NUN7-1", "ENSEMBL:ENSP00000227349", "ENSEMBL:ENSP00000227349.2", "ENSEMBL:ENSP00000431669", "ENSEMBL:ENSP00000431669.1"], "information_content": 100.0}
{"id": "NCBIGene:81622", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UNC93B1", "equivalent_identifiers": ["NCBIGene:81622", "ENSEMBL:ENSG00000110057", "HGNC:13481", "OMIM:608204", "UMLS:C1422014", "UniProtKB:Q9H1C4", "PR:Q9H1C4", "ENSEMBL:ENSP00000227471", "ENSEMBL:ENSP00000227471.3", "UMLS:C1122301", "MESH:C454130"], "information_content": 92.8}
{"id": "MONDO:0012682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 35", "equivalent_identifiers": ["MONDO:0012682", "DOID:0111989", "OMIM:611521", "orphanet:331226", "UMLS:C1969086", "MESH:C566928", "SNOMEDCT:1197415001", "medgen:409751"], "information_content": 100.0}
{"id": "MONDO:0015517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "common variable immunodeficiency", "equivalent_identifiers": ["MONDO:0015517", "DOID:12177", "OMIM:607594", "UMLS:C0009447", "UMLS:C3149378", "MESH:D017074", "MEDDRA:10010112", "MEDDRA:10021449", "MEDDRA:10036670", "MEDDRA:10036671", "SNOMEDCT:191010004", "ICD10:D83", "ICD9:279.06"], "information_content": 80.9}
{"id": "MONDO:0007969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Melkersson-Rosenthal syndrome", "equivalent_identifiers": ["MONDO:0007969", "DOID:1761", "OMIM:155900", "orphanet:2483", "EFO:1001039", "UMLS:C0025235", "MESH:D008556", "MEDDRA:10027166", "NCIT:C84886", "SNOMEDCT:215617000", "SNOMEDCT:37770007", "medgen:6291", "ICD10:G51.2"], "information_content": 100.0}
{"id": "MONDO:0013427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 31B", "equivalent_identifiers": ["MONDO:0013427", "DOID:0111944", "OMIM:613796", "orphanet:391311", "UMLS:C3151088", "medgen:462438"], "information_content": 100.0}
{"id": "NCBIGene:83480", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PUS3", "equivalent_identifiers": ["NCBIGene:83480", "ENSEMBL:ENSG00000110060", "HGNC:25461", "OMIM:616283", "UMLS:C1538753", "UniProtKB:A0A087WY59", "ENSEMBL:ENSP00000481536", "ENSEMBL:ENSP00000481536.1", "UniProtKB:Q9BZE2", "PR:Q9BZE2", "ENSEMBL:ENSP00000227474", "ENSEMBL:ENSP00000227474.3", "ENSEMBL:ENSP00000432386", "ENSEMBL:ENSP00000432386.1"], "information_content": 95.4}
{"id": "NCBIGene:595", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCND1", "equivalent_identifiers": ["NCBIGene:595", "ENSEMBL:ENSG00000110092", "HGNC:1582", "OMIM:168461", "UMLS:C1413172", "UniProtKB:P24385", "PR:P24385", "ENSEMBL:ENSP00000227507", "ENSEMBL:ENSP00000227507.2", "UMLS:C0388730", "UMLS:C1741716", "UMLS:C3893229", "MESH:C530104", "MESH:D056741", "UniProtKB:Q6FI00"], "information_content": 83.6}
{"id": "MONDO:0002816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal cortex disorder", "equivalent_identifiers": ["MONDO:0002816", "DOID:3952", "UMLS:C0001614", "MESH:D000303", "SNOMEDCT:129636003", "medgen:154"], "information_content": 74.1}
{"id": "MONDO:0008401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pleomorphic adenoma", "equivalent_identifiers": ["MONDO:0008401", "DOID:452", "OMIM:181030", "EFO:1000518", "UMLS:C0026277", "UMLS:C1519176", "MESH:C563250", "MESH:D008949", "MEDDRA:10073372", "NCIT:C35691", "NCIT:C40409", "NCIT:C8602", "SNOMEDCT:447888006", "SNOMEDCT:8360001", "medgen:275400"], "information_content": 77.3}
{"id": "DOID:2512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nevoid basal cell carcinoma syndrome", "equivalent_identifiers": ["DOID:2512", "OMIM:109400", "UMLS:C0004779", "MESH:D001478", "MEDDRA:10004151", "MEDDRA:10062804", "MEDDRA:10078877", "MEDDRA:10078878", "NCIT:C2892", "SNOMEDCT:69408002"], "information_content": 86.3}
{"id": "UniProtKB:Q9H6F5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 86 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6F5-1", "PR:Q9H6F5-1", "ENSEMBL:ENSP00000227520", "ENSEMBL:ENSP00000227520.5"], "information_content": 100.0}
{"id": "MONDO:0009868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease IXb", "equivalent_identifiers": ["MONDO:0009868", "DOID:0111041", "OMIM:261750", "orphanet:79240", "UMLS:C0543514", "MESH:C563008", "MEDDRA:10083036", "SNOMEDCT:860860004", "medgen:107772"], "information_content": 100.0}
{"id": "NCBIGene:27339", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRPF19", "equivalent_identifiers": ["NCBIGene:27339", "ENSEMBL:ENSG00000110107", "HGNC:17896", "OMIM:608330", "UMLS:C1538720", "UniProtKB:Q9UMS4", "PR:Q9UMS4", "ENSEMBL:ENSP00000227524", "ENSEMBL:ENSP00000227524.4", "UMLS:C0962593", "MESH:C417041"], "information_content": 86.3}
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{"id": "NCBIGene:79073", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM109", "equivalent_identifiers": ["NCBIGene:79073", "ENSEMBL:ENSG00000110108", "HGNC:28771", "OMIM:619168", "UMLS:C1823371", "UniProtKB:Q9BVC6", "PR:Q9BVC6", "ENSEMBL:ENSP00000227525", "ENSEMBL:ENSP00000227525.3", "ENSEMBL:ENSP00000443990", "ENSEMBL:ENSP00000443990.1", "ENSEMBL:ENSP00000520520", "ENSEMBL:ENSP00000520520.1"], "information_content": 95.4}
{"id": "MONDO:0012130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 2", "equivalent_identifiers": ["MONDO:0012130", "DOID:0080093", "OMIM:608810", "orphanet:399058", "UMLS:C1837317", "MESH:C563848", "medgen:324735"], "information_content": 100.0}
{"id": "UniProtKB:Q96RD7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pannexin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RD7-1", "PR:Q96RD7-1", "ENSEMBL:ENSP00000227638", "ENSEMBL:ENSP00000227638.3"], "information_content": 100.0}
{"id": "MONDO:0008111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculodentodigital dysplasia", "equivalent_identifiers": ["MONDO:0008111", "DOID:0060291", "OMIM:164200", "orphanet:2710", "UMLS:C0812437", "MESH:C563160", "MEDDRA:10063691", "SNOMEDCT:31291009", "SNOMEDCT:38215007", "medgen:167236"], "information_content": 95.4}
{"id": "NCBIGene:345", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOC3", "equivalent_identifiers": ["NCBIGene:345", "ENSEMBL:ENSG00000110245", "HGNC:610", "OMIM:107720", "UMLS:C1412478", "UniProtKB:A3KPE2", "UniProtKB:P02656", "PR:P02656", "ENSEMBL:ENSP00000227667", "ENSEMBL:ENSP00000227667.2", "UMLS:C5226102", "MESH:C000655020"], "information_content": 88.2}
{"id": "NCBIGene:3587", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL10RA", "equivalent_identifiers": ["NCBIGene:3587", "ENSEMBL:ENSG00000110324", "HGNC:5964", "OMIM:146933", "UMLS:C1416381", "UniProtKB:Q13651", "PR:Q13651", "ENSEMBL:ENSP00000227752", "ENSEMBL:ENSP00000227752.4"], "information_content": 90.9}
{"id": "MONDO:0013153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 28", "equivalent_identifiers": ["MONDO:0013153", "DOID:0110899", "OMIM:613148", "UMLS:C2751053", "MESH:C567728", "NCIT:C164676", "medgen:442630"], "information_content": 100.0}
{"id": "MONDO:0009465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple intestinal atresia", "equivalent_identifiers": ["MONDO:0009465", "DOID:14671", "orphanet:2300", "UMLS:C0220744", "MESH:C562441", "MEDDRA:10028210", "SNOMEDCT:95472001", "medgen:65090"], "information_content": 100.0}
{"id": "MONDO:0002917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hair disease", "equivalent_identifiers": ["MONDO:0002917", "DOID:421", "UMLS:C0018500", "UMLS:C0554472", "MESH:D006201", "MEDDRA:10013226", "MEDDRA:10019037", "MEDDRA:10019038", "MEDDRA:10045747", "NCIT:C34656", "SNOMEDCT:201128002", "SNOMEDCT:279425004", "medgen:640417"], "information_content": 68.0}
{"id": "MONDO:0011471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 3", "equivalent_identifiers": ["MONDO:0011471", "DOID:0110891", "OMIM:604519", "UMLS:C1858303", "MESH:C565764", "medgen:346785"], "information_content": 100.0}
{"id": "UniProtKB:O00330-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyruvate dehydrogenase protein X component, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00330-1", "PR:O00330-1", "ENSEMBL:ENSP00000227868", "ENSEMBL:ENSP00000227868.4"], "information_content": 100.0}
{"id": "MONDO:0019169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0019169", "DOID:3649", "OMIM.PS:312170", "orphanet:765", "EFO:0007459", "UMLS:C0034345", "MESH:D015325", "MEDDRA:10084109", "NCIT:C103968", "SNOMEDCT:46683007", "medgen:19610", "icd11.foundation:1124597954", "ICD10:E74.4"], "information_content": 86.3}
{"id": "NCBIGene:51296", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC15A3", "equivalent_identifiers": ["NCBIGene:51296", "ENSEMBL:ENSG00000110446", "HGNC:18068", "OMIM:610408", "UMLS:C1425279", "UniProtKB:A0A7P0T8H0", "ENSEMBL:ENSP00000505077", "ENSEMBL:ENSP00000505077.1", "UMLS:C1434660", "MESH:C486080", "UniProtKB:Q8IY34", "PR:Q8IY34", "ENSEMBL:ENSP00000227880", "ENSEMBL:ENSP00000227880.2"], "information_content": 88.2}
{"id": "UniProtKB:Q13296-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mammaglobin-A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13296-1", "PR:Q13296-1", "ENSEMBL:ENSP00000227918", "ENSEMBL:ENSP00000227918.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96PD7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diacylglycerol O-acyltransferase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PD7-1", "PR:Q96PD7-1", "ENSEMBL:ENSP00000228027", "ENSEMBL:ENSP00000228027.6"], "information_content": 100.0}
{"id": "NCBIGene:10944", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C11orf58", "equivalent_identifiers": ["NCBIGene:10944", "ENSEMBL:ENSG00000110696", "HGNC:16990", "OMIM:619625", "UMLS:C1824324", "UniProtKB:O00193", "PR:O00193", "ENSEMBL:ENSP00000228136", "ENSEMBL:ENSP00000228136.4"], "information_content": 100.0}
{"id": "UniProtKB:P16989-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Y-box-binding protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P16989-1", "PR:P16989-1", "ENSEMBL:ENSP00000228251", "ENSEMBL:ENSP00000228251.4"], "information_content": 100.0}
{"id": "MONDO:0006524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrodermatitis chronica atrophicans", "equivalent_identifiers": ["MONDO:0006524", "DOID:0060344", "EFO:1000665", "UMLS:C0029805", "UMLS:C0263421", "MEDDRA:10000594", "SNOMEDCT:4340003", "medgen:537873", "icd11.foundation:1761234822", "ICD9:701.8"], "information_content": 100.0}
{"id": "MONDO:0013179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 44", "equivalent_identifiers": ["MONDO:0013179", "DOID:0110796", "OMIM:613206", "orphanet:320401", "UMLS:C2750784", "MESH:C567707", "SNOMEDCT:723821002", "medgen:413042"], "information_content": 100.0}
{"id": "UniProtKB:Q00325-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 25 member 3 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q00325-1", "PR:Q00325-1", "ENSEMBL:ENSP00000228318", "ENSEMBL:ENSP00000228318.3", "ENSEMBL:ENSP00000447310", "ENSEMBL:ENSP00000447310.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NW08-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed RNA polymerase III subunit RPC2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NW08-1", "PR:Q9NW08-1", "ENSEMBL:ENSP00000228347", "ENSEMBL:ENSP00000228347.4"], "information_content": 100.0}
{"id": "MONDO:0009910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wiedemann-Rautenstrauch syndrome", "equivalent_identifiers": ["MONDO:0009910", "DOID:0081333", "OMIM:264090", "orphanet:3455", "UMLS:C0406586", "MESH:C536423", "NCIT:C121565", "SNOMEDCT:238874008", "medgen:140806"], "information_content": 100.0}
{"id": "MONDO:0014529", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellar-facial-dental syndrome", "equivalent_identifiers": ["MONDO:0014529", "DOID:0080898", "OMIM:616202", "orphanet:444072", "EFO:0009030", "UMLS:C4015495", "SNOMEDCT:1237475006", "medgen:863932"], "information_content": 100.0}
{"id": "MONDO:0011147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 18q deletion syndrome", "equivalent_identifiers": ["MONDO:0011147", "DOID:0060407", "OMIM:601808", "orphanet:1600", "orphanet:262146", "UMLS:C0432443", "MESH:C536580", "MEDDRA:10066051", "NCIT:C84522", "SNOMEDCT:270889005", "medgen:96605", "icd11.foundation:1121828795"], "information_content": 92.8}
{"id": "NCBIGene:969", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD69", "equivalent_identifiers": ["NCBIGene:969", "ENSEMBL:ENSG00000110848", "HGNC:1694", "OMIM:107273", "UMLS:C1413235", "UniProtKB:Q07108", "PR:Q07108", "ENSEMBL:ENSP00000228434", "ENSEMBL:ENSP00000228434.3", "UMLS:C2744535", "UniProtKB:Q53ZX0"], "information_content": 77.6}
{"id": "NCBIGene:9976", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLEC2B", "equivalent_identifiers": ["NCBIGene:9976", "ENSEMBL:ENSG00000110852", "HGNC:2053", "OMIM:603242", "UMLS:C1539088", "UniProtKB:Q92478", "PR:Q92478", "ENSEMBL:ENSP00000228438", "ENSEMBL:ENSP00000228438.2", "UMLS:C1609907", "MESH:C104778"], "information_content": 100.0}
{"id": "UniProtKB:Q14242-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "P-selectin glycoprotein ligand 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q14242-2", "PR:Q14242-2", "ENSEMBL:ENSP00000228463", "ENSEMBL:ENSP00000228463.6"], "information_content": 100.0}
{"id": "MONDO:0005118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "human granulocytic ehrlichiosis", "equivalent_identifiers": ["MONDO:0005118", "DOID:0050025", "EFO:0000777", "UMLS:C0483368", "MEDDRA:10020430", "SNOMEDCT:85708001", "medgen:96911"], "information_content": 100.0}
{"id": "UniProtKB:P78348-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acid-sensing ion channel 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78348-1", "PR:P78348-1", "ENSEMBL:ENSP00000228468", "ENSEMBL:ENSP00000228468.4"], "information_content": 100.0}
{"id": "NCBIGene:1610", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DAO", "equivalent_identifiers": ["NCBIGene:1610", "ENSEMBL:ENSG00000110887", "HGNC:2671", "OMIM:124050", "UMLS:C1413903", "UniProtKB:A0A024RBI1", "UniProtKB:A0A0S2Z3J4", "UniProtKB:P14920", "PR:P14920", "ENSEMBL:ENSP00000228476", "ENSEMBL:ENSP00000228476.3", "UMLS:C1450094", "MESH:C417983"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3F6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3F6-1", "PR:Q9H3F6-1", "ENSEMBL:ENSP00000228495", "ENSEMBL:ENSP00000228495.6"], "information_content": 100.0}
{"id": "MONDO:0019078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3C syndrome", "equivalent_identifiers": ["MONDO:0019078", "DOID:0060565", "OMIM.PS:220210", "orphanet:7", "UMLS:C0796137", "MESH:C535313", "SNOMEDCT:718556007", "medgen:163220"], "information_content": 89.4}
{"id": "NCBIGene:9761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MLEC", "equivalent_identifiers": ["NCBIGene:9761", "ENSEMBL:ENSG00000110917", "HGNC:28973", "OMIM:613802", "UMLS:C2681835", "UniProtKB:F5GX14", "ENSEMBL:ENSP00000440746", "ENSEMBL:ENSP00000440746.1", "UMLS:C2975593", "MESH:C554484", "UniProtKB:Q14165", "PR:Q14165", "ENSEMBL:ENSP00000228506", "ENSEMBL:ENSP00000228506.3"], "information_content": 95.4}
{"id": "MONDO:0009309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1", "equivalent_identifiers": ["MONDO:0009309", "DOID:0070192", "OMIM:233700", "UMLS:C1856251", "MESH:C565532", "NCIT:C154314", "medgen:341102"], "information_content": 100.0}
{"id": "DOID:0080652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "calcium oxalate nephrolithiasis", "equivalent_identifiers": ["DOID:0080652"]}
{"id": "NCBIGene:4598", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MVK", "equivalent_identifiers": ["NCBIGene:4598", "ENSEMBL:ENSG00000110921", "HGNC:7530", "OMIM:251170", "UMLS:C1417508", "UniProtKB:B2RDU6", "UMLS:C1570750", "UniProtKB:B7Z1C2", "UniProtKB:B7Z301", "UniProtKB:F5H8H2", "ENSEMBL:ENSP00000376487", "ENSEMBL:ENSP00000376487.3", "UniProtKB:Q03426", "PR:Q03426", "ENSEMBL:ENSP00000228510", "ENSEMBL:ENSP00000228510.3", "ENSEMBL:ENSP00000438153", "ENSEMBL:ENSP00000438153.2", "UMLS:C5444208"], "information_content": 89.4}
{"id": "MONDO:0006879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papilledema", "equivalent_identifiers": ["MONDO:0006879", "DOID:10175", "DOID:146", "EFO:1001074", "UMLS:C0030353", "UMLS:C0155288", "UMLS:C0919308", "MESH:D010211", "MEDDRA:10013058", "MEDDRA:10013061", "MEDDRA:10030918", "MEDDRA:10030920", "MEDDRA:10030923", "MEDDRA:10030948", "MEDDRA:10033703", "MEDDRA:10033707", "MEDDRA:10033708", "MEDDRA:10033709", "MEDDRA:10033710", "MEDDRA:10033712", "MEDDRA:10055401", "MEDDRA:10055949", "MEDDRA:10089152", "NCIT:C3307", "SNOMEDCT:248487006", "SNOMEDCT:423341008", "SNOMEDCT:423488006", "SNOMEDCT:73221001", "medgen:10565", "ICD10:H35.81", "ICD10:H47.1", "ICD10:H47.11", "ICD9:362.83", "ICD9:377.0", "ICD9:377.01", "HP:0001085"], "information_content": 87.2}
{"id": "MONDO:0009258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "classic galactosemia", "equivalent_identifiers": ["MONDO:0009258", "DOID:0111459", "OMIM:230400", "orphanet:79239", "UMLS:C0268151", "UMLS:C0268152", "UMLS:C3278146", "NCIT:C99104", "SNOMEDCT:10899004", "SNOMEDCT:124354006", "SNOMEDCT:398664009", "medgen:82777", "icd11.foundation:2011000259"], "information_content": 100.0}
{"id": "MONDO:0012413", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic microphthalmia type 5", "equivalent_identifiers": ["MONDO:0012413", "DOID:0111806", "OMIM:610125", "orphanet:178364", "UMLS:C1864690", "UMLS:C4225436", "MESH:C566441", "SNOMEDCT:718761007", "medgen:350491"], "information_content": 100.0}
{"id": "NCBIGene:81566", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSRNP2", "equivalent_identifiers": ["NCBIGene:81566", "ENSEMBL:ENSG00000110925", "HGNC:16006", "OMIM:620404", "UMLS:C1423903", "UniProtKB:Q9H175", "PR:Q9H175", "ENSEMBL:ENSP00000228515", "ENSEMBL:ENSP00000228515.1"], "information_content": 100.0}
{"id": "MONDO:0000079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrolithiasis/osteoporosis, hypophosphatemic", "equivalent_identifiers": ["MONDO:0000079", "DOID:0080655", "OMIM.PS:612286", "KEGG.DISEASE:H00888"], "information_content": 92.8}
{"id": "MONDO:0008853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Barber-Say syndrome", "equivalent_identifiers": ["MONDO:0008853", "DOID:0060549", "OMIM:209885", "orphanet:1231", "UMLS:C1319466", "MESH:C537908", "SNOMEDCT:408537003", "medgen:230818", "icd11.foundation:37248895"], "information_content": 100.0}
{"id": "MONDO:0008693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ablepharon macrostomia syndrome", "equivalent_identifiers": ["MONDO:0008693", "DOID:0060550", "OMIM:200110", "orphanet:920", "UMLS:C1860224", "MESH:C535557", "MEDDRA:10083860", "SNOMEDCT:718575002", "medgen:395439"], "information_content": 100.0}
{"id": "MONDO:0014376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism", "equivalent_identifiers": ["MONDO:0014376", "DOID:0070057", "OMIM:615866", "UMLS:C4014528", "medgen:862965"], "information_content": 100.0}
{"id": "MONDO:0010560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cleft palate with or without ankyloglossia, X-linked", "equivalent_identifiers": ["MONDO:0010560", "DOID:0060613", "OMIM:303400", "orphanet:324601", "UMLS:C1844830", "UMLS:C4707825", "MESH:C536426", "SNOMEDCT:766761000", "medgen:375520"], "information_content": 100.0}
{"id": "NCBIGene:51561", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL23A", "equivalent_identifiers": ["NCBIGene:51561", "ENSEMBL:ENSG00000110944", "HGNC:15488", "OMIM:605580", "UMLS:C1423526", "UniProtKB:Q9NPF7", "PR:Q9NPF7", "ENSEMBL:ENSP00000228534", "ENSEMBL:ENSP00000228534.4", "UMLS:C1700278", "MESH:C508840"], "information_content": 92.8}
{"id": "MONDO:0031012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune uveitis", "equivalent_identifiers": ["MONDO:0031012", "DOID:0040088", "UMLS:C3888523", "MEDDRA:10075690", "medgen:1843501"], "information_content": 100.0}
{"id": "NCBIGene:341359", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYT10", "equivalent_identifiers": ["NCBIGene:341359", "ENSEMBL:ENSG00000110975", "HGNC:19266", "UMLS:C1426131", "UniProtKB:Q6XYQ8", "PR:Q6XYQ8", "ENSEMBL:ENSP00000228567", "ENSEMBL:ENSP00000228567.3", "UMLS:C1455156", "MESH:C488378"], "information_content": 95.4}
{"id": "NCBIGene:1594", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP27B1", "equivalent_identifiers": ["NCBIGene:1594", "ENSEMBL:ENSG00000111012", "HGNC:2606", "OMIM:609506", "UMLS:C1413865", "UniProtKB:O15528", "PR:O15528", "ENSEMBL:ENSP00000228606", "ENSEMBL:ENSP00000228606.4", "UMLS:C1522417", "MESH:C000600378"], "information_content": 100.0}
{"id": "NCBIGene:4618", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYF6", "equivalent_identifiers": ["NCBIGene:4618", "ENSEMBL:ENSG00000111046", "HGNC:7566", "OMIM:159991", "UMLS:C1417533", "UniProtKB:P23409", "PR:P23409", "ENSEMBL:ENSP00000228641", "ENSEMBL:ENSP00000228641.3", "UMLS:C0122619"], "information_content": 100.0}
{"id": "NCBIGene:4617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYF5", "equivalent_identifiers": ["NCBIGene:4617", "ENSEMBL:ENSG00000111049", "HGNC:7565", "OMIM:159990", "UMLS:C1417532", "UniProtKB:P13349", "PR:P13349", "ENSEMBL:ENSP00000228644", "ENSEMBL:ENSP00000228644.3", "UMLS:C0122618", "MESH:C497417"], "information_content": 95.4}
{"id": "UniProtKB:P08151-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein GLI1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08151-1", "PR:P08151-1", "ENSEMBL:ENSP00000228682", "ENSEMBL:ENSP00000228682.2"], "information_content": 100.0}
{"id": "MONDO:0008708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrocallosal syndrome", "equivalent_identifiers": ["MONDO:0008708", "DOID:9250", "OMIM:200990", "orphanet:36", "UMLS:C0796147", "UMLS:C2931760", "UMLS:C3277723", "UMLS:C3280899", "MESH:C538177", "MESH:D055673", "MEDDRA:10083865", "MEDDRA:10083871", "NCIT:C84531", "SNOMEDCT:715951007", "medgen:162915", "icd11.foundation:1286493807"], "information_content": 100.0}
{"id": "MONDO:0008153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteoma cutis", "equivalent_identifiers": ["MONDO:0008153", "DOID:0111535", "OMIM:166350", "orphanet:2762", "UMLS:C0334041", "MESH:C562735", "MEDDRA:10048902", "MEDDRA:10048982", "NCIT:C132062", "SNOMEDCT:404074003", "SNOMEDCT:71304002", "SNOMEDCT:719271000", "medgen:137714", "icd11.foundation:1107209347", "HP:0025027"], "information_content": 100.0}
{"id": "MONDO:0014369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0014369", "DOID:0080328", "OMIM:615849", "orphanet:420584", "UMLS:C4014479", "medgen:862916"], "information_content": 100.0}
{"id": "NCBIGene:57460", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPM1H", "equivalent_identifiers": ["NCBIGene:57460", "ENSEMBL:ENSG00000111110", "HGNC:18583", "OMIM:616016", "UMLS:C1425621", "UniProtKB:Q9ULR3", "PR:Q9ULR3", "ENSEMBL:ENSP00000228705", "ENSEMBL:ENSP00000228705.5", "UMLS:C1958340", "MESH:C521058"], "information_content": 100.0}
{"id": "UniProtKB:P09960-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukotriene A-4 hydrolase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P09960-1", "PR:P09960-1", "ENSEMBL:ENSP00000228740", "ENSEMBL:ENSP00000228740.2"], "information_content": 100.0}
{"id": "NCBIGene:2004", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELK3", "equivalent_identifiers": ["NCBIGene:2004", "ENSEMBL:ENSG00000111145", "HGNC:3325", "OMIM:600247", "UMLS:C0812375", "UniProtKB:P41970", "PR:P41970", "ENSEMBL:ENSP00000228741", "ENSEMBL:ENSP00000228741.3", "UMLS:C1321890", "MESH:C527883"], "information_content": 100.0}
{"id": "MONDO:0003250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoblastoma", "equivalent_identifiers": ["MONDO:0003250", "DOID:5039", "UMLS:C0027043", "NCIT:C3252", "SNOMEDCT:1336225003", "medgen:44550"], "information_content": 85.5}
{"id": "UniProtKB:Q969R8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KICSTOR complex protein ITFG2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969R8-1", "PR:Q969R8-1", "ENSEMBL:ENSP00000228799", "ENSEMBL:ENSP00000228799.2"], "information_content": 100.0}
{"id": "MONDO:0011602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 27", "equivalent_identifiers": ["MONDO:0011602", "DOID:0110485", "OMIM:605818", "UMLS:C1853941", "MESH:C565287", "medgen:381303"], "information_content": 100.0}
{"id": "MONDO:0018472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial isolated trichomegaly", "equivalent_identifiers": ["MONDO:0018472", "DOID:0111566", "orphanet:411788", "UMLS:C4706941", "SNOMEDCT:764523004", "medgen:1639703", "icd11.foundation:1611595637"], "information_content": 100.0}
{"id": "UniProtKB:Q16378-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16378-1", "PR:Q16378-1", "ENSEMBL:ENSP00000228811", "ENSEMBL:ENSP00000228811.4", "ENSEMBL:ENSP00000459468", "ENSEMBL:ENSP00000459468.1", "ENSEMBL:ENSP00000477689", "ENSEMBL:ENSP00000477689.1"], "information_content": 100.0}
{"id": "MONDO:0005339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frontal balding", "equivalent_identifiers": ["MONDO:0005339", "DOID:0050801", "EFO:0004191", "UMLS:C0162311", "UMLS:C1864584", "UMLS:C4083212", "MEDDRA:10025514", "MEDDRA:10068168", "MEDDRA:10068558", "SNOMEDCT:201144006", "SNOMEDCT:87872006", "medgen:56404", "HP:0002292"], "information_content": 89.4}
{"id": "MONDO:0004857", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tendinitis", "equivalent_identifiers": ["MONDO:0004857", "DOID:971", "UMLS:C0039503", "MEDDRA:10043232", "MEDDRA:10043255", "NCIT:C97141", "SNOMEDCT:34840004", "medgen:21094", "HP:0025230"], "information_content": 84.8}
{"id": "MONDO:0001855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rubeosis iridis", "equivalent_identifiers": ["MONDO:0001855", "DOID:14000", "UMLS:C0154916", "MEDDRA:10039291", "MEDDRA:10065627", "MEDDRA:10065630", "SNOMEDCT:51995000", "medgen:488789", "ICD10:H21.1", "ICD9:364.42", "HP:0011497"], "information_content": 100.0}
{"id": "UniProtKB:Q9NR21-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein mono-ADP-ribosyltransferase PARP11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR21-4", "PR:Q9NR21-4", "ENSEMBL:ENSP00000228820", "ENSEMBL:ENSP00000228820.4"], "information_content": 100.0}
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{"id": "MONDO:0015285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carney complex", "equivalent_identifiers": ["MONDO:0015285", "DOID:0050471", "orphanet:1359", "UMLS:C0406810", "MESH:D056733", "MEDDRA:10076601", "MEDDRA:10084246", "MEDDRA:10084248", "NCIT:C4705", "SNOMEDCT:733491005", "medgen:140810", "icd11.foundation:1051158630"], "information_content": 85.5}
{"id": "UniProtKB:Q9NZD1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G-protein coupled receptor family C group 5 member D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZD1-1", "PR:Q9NZD1-1", "ENSEMBL:ENSP00000228887", "ENSEMBL:ENSP00000228887.1"], "information_content": 100.0}
{"id": "UniProtKB:P36941-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P36941-1", "PR:P36941-1", "ENSEMBL:ENSP00000228918", "ENSEMBL:ENSP00000228918.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6N063-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6N063-1", "PR:Q6N063-1", "ENSEMBL:ENSP00000228922", "ENSEMBL:ENSP00000228922.7"], "information_content": 100.0}
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{"id": "NCBIGene:420", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ART4", "equivalent_identifiers": ["NCBIGene:420", "ENSEMBL:ENSG00000111339", "HGNC:726", "OMIM:110600", "UMLS:C1825087", "UniProtKB:Q93070", "PR:Q93070", "ENSEMBL:ENSP00000228936", "ENSEMBL:ENSP00000228936.4", "UMLS:C0537509", "MESH:C105234"], "information_content": 100.0}
{"id": "MONDO:0006760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal erythroblastosis", "equivalent_identifiers": ["MONDO:0006760", "DOID:1098", "EFO:1000937", "UMLS:C0014761", "MESH:D004899", "MEDDRA:10015250", "MEDDRA:10015251", "MEDDRA:10019513", "MEDDRA:10056202", "NCIT:C101304", "SNOMEDCT:387705004", "medgen:4530", "ICD10:P55", "ICD9:773"], "information_content": 90.9}
{"id": "MONDO:0007297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ADan amyloidosis", "equivalent_identifiers": ["MONDO:0007297", "DOID:0070030", "OMIM:117300", "orphanet:97346", "UMLS:C1861735", "MESH:C538209", "SNOMEDCT:783258000", "medgen:396208", "icd11.foundation:54507082"], "information_content": 100.0}
{"id": "UniProtKB:P08493-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "matrix Gla protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P08493-2", "PR:P08493-2", "ENSEMBL:ENSP00000228938", "ENSEMBL:ENSP00000228938.5"], "information_content": 100.0}
{"id": "MONDO:0005300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic kidney disease", "equivalent_identifiers": ["MONDO:0005300", "DOID:784", "EFO:0003884", "UMLS:C0748318", "UMLS:C1561643", "MESH:D007676", "MEDDRA:10036812", "MEDDRA:10064848", "NCIT:C80078", "SNOMEDCT:709044004", "medgen:473458", "icd11.foundation:412389819", "ICD10:N18.9", "HP:0012622"], "information_content": 82.1}
{"id": "MONDO:0007008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uremia", "equivalent_identifiers": ["MONDO:0007008", "DOID:4676", "EFO:1001226", "UMLS:C0041948", "MESH:D014511", "MEDDRA:10046320", "MEDDRA:10046321", "MEDDRA:10046369", "MEDDRA:10046370", "SNOMEDCT:44730006", "medgen:12008"], "information_content": 95.4}
{"id": "MONDO:0015722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital vitamin K-dependent coagulation factors deficiency", "equivalent_identifiers": ["MONDO:0015722", "DOID:0112172", "OMIM.PS:277450", "orphanet:169826", "orphanet:98434", "UMLS:C4510617", "medgen:1378036", "icd11.foundation:54644599"], "information_content": 88.2}
{"id": "MONDO:0006946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renal rickets", "equivalent_identifiers": ["MONDO:0006946", "DOID:13068", "EFO:1001152", "UMLS:C0035086", "UMLS:C1527410", "UMLS:C4076240", "MESH:D012080", "MEDDRA:10038489", "MEDDRA:10038519", "MEDDRA:10078095", "MEDDRA:10078096", "NCIT:C114827", "SNOMEDCT:16726004", "SNOMEDCT:713313000", "medgen:20524", "ICD10:N25.0", "ICD9:588.0"], "information_content": 100.0}
{"id": "MONDO:0001911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tracheal calcification", "equivalent_identifiers": ["MONDO:0001911", "DOID:14224", "UMLS:C0264324", "MEDDRA:10051880", "NCIT:C35314", "SNOMEDCT:81089005", "medgen:75539", "HP:0002787"], "information_content": 100.0}
{"id": "MONDO:0007127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse idiopathic skeletal hyperostosis", "equivalent_identifiers": ["MONDO:0007127", "DOID:6652", "OMIM:106400", "orphanet:2206", "EFO:0007236", "UMLS:C0020498", "MESH:D004057", "MEDDRA:10002558", "MEDDRA:10054031", "MEDDRA:10054040", "MEDDRA:10054080", "MEDDRA:10080059", "NCIT:C84671", "SNOMEDCT:31487001", "medgen:5695", "ICD10:M48.1", "ICD9:721.6"], "information_content": 100.0}
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{"id": "NCBIGene:79785", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RERGL", "equivalent_identifiers": ["NCBIGene:79785", "ENSEMBL:ENSG00000111404", "HGNC:26213", "UMLS:C2239880", "UniProtKB:F5H686", "ENSEMBL:ENSP00000437814", "ENSEMBL:ENSP00000437814.1", "UniProtKB:Q9H628", "PR:Q9H628", "ENSEMBL:ENSP00000229002", "ENSEMBL:ENSP00000229002.2"], "information_content": 100.0}
{"id": "MONDO:0011058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 9", "equivalent_identifiers": ["MONDO:0011058", "DOID:0110593", "OMIM:601369", "UMLS:C1832425", "MESH:C563335", "medgen:371327"], "information_content": 100.0}
{"id": "MONDO:0001507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "viral labyrinthitis", "equivalent_identifiers": ["MONDO:0001507", "DOID:12357", "UMLS:C0155508", "MEDDRA:10047466", "SNOMEDCT:409711008", "medgen:509997", "ICD9:386.35"], "information_content": 100.0}
{"id": "NCBIGene:11211", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FZD10", "equivalent_identifiers": ["NCBIGene:11211", "ENSEMBL:ENSG00000111432", "HGNC:4039", "OMIM:606147", "UMLS:C1414887", "UniProtKB:Q6NSL8", "UMLS:C1438342", "MESH:C121168", "UniProtKB:Q9ULW2", "PR:Q9ULW2", "ENSEMBL:ENSP00000229030", "ENSEMBL:ENSP00000229030.4"], "information_content": 95.4}
{"id": "NCBIGene:55801", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL26", "equivalent_identifiers": ["NCBIGene:55801", "ENSEMBL:ENSG00000111536", "HGNC:17119", "OMIM:605679", "UMLS:C1424756", "UniProtKB:A0A7R8GUW8", "UniProtKB:Q9NPH9", "PR:Q9NPH9", "ENSEMBL:ENSP00000229134", "ENSEMBL:ENSP00000229134.4", "UMLS:C1309453", "MESH:C406767"], "information_content": 95.4}
{"id": "MONDO:0008661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitiligo", "equivalent_identifiers": ["MONDO:0008661", "DOID:12306", "EFO:0004208", "UMLS:C0042900", "MESH:D014820", "MEDDRA:10047642", "MEDDRA:10047643", "NCIT:C26915", "SNOMEDCT:56727007", "medgen:22677", "icd11.foundation:1894744640", "ICD10:L80", "ICD9:709.01", "HP:0001045"], "information_content": 90.9}
{"id": "NCBIGene:3458", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFNG", "equivalent_identifiers": ["NCBIGene:3458", "ENSEMBL:ENSG00000111537", "HGNC:5438", "OMIM:147570", "UMLS:C1334085", "UniProtKB:P01579", "PR:P01579", "ENSEMBL:ENSP00000229135", "ENSEMBL:ENSP00000229135.3", "UMLS:C3493224", "MESH:C573415"], "information_content": 90.9}
{"id": "MONDO:0005774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glanders", "equivalent_identifiers": ["MONDO:0005774", "DOID:13444", "orphanet:659908", "EFO:0007286", "UMLS:C0017589", "MESH:D005896", "MEDDRA:10018298", "NCIT:C34638", "SNOMEDCT:4639008", "medgen:42221", "icd11.foundation:1563156715", "ICD10:A24.0", "ICD9:024"], "information_content": 100.0}
{"id": "MONDO:0005832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphangitis", "equivalent_identifiers": ["MONDO:0005832", "DOID:9317", "EFO:0007351", "UMLS:C0024225", "MESH:D008205", "MEDDRA:10025226", "NCIT:C34790", "SNOMEDCT:1415005", "medgen:7412", "icd11.foundation:1548743622", "ICD10:I89.1", "ICD9:457.2"], "information_content": 100.0}
{"id": "MONDO:0017879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hantavirus pulmonary syndrome", "equivalent_identifiers": ["MONDO:0017879", "DOID:14472", "orphanet:319247", "EFO:0007296", "UMLS:C0243025", "MESH:D018804", "MEDDRA:10019143", "MEDDRA:10019144", "MEDDRA:10056320", "NCIT:C84747", "SNOMEDCT:120639003", "medgen:66205", "icd11.foundation:582624609", "ICD10:B33.4"], "information_content": 100.0}
{"id": "MONDO:0016989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fuchs heterochromic iridocyclitis", "equivalent_identifiers": ["MONDO:0016989", "DOID:9375", "orphanet:263479", "UMLS:C0016782", "MEDDRA:10017406", "SNOMEDCT:11226001", "medgen:507742", "ICD10:H20.81", "ICD9:364.21"], "information_content": 100.0}
{"id": "UniProtKB:P57740-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear pore complex protein Nup107 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P57740-1", "PR:P57740-1", "ENSEMBL:ENSP00000229179", "ENSEMBL:ENSP00000229179.4"], "information_content": 100.0}
{"id": "MONDO:0100313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis", "equivalent_identifiers": ["MONDO:0100313", "DOID:1312", "EFO:0004236", "UMLS:C0017668", "MESH:D005923", "MEDDRA:10016832", "MEDDRA:10065581", "MEDDRA:10067757", "MEDDRA:10087691", "NCIT:C37308", "SNOMEDCT:236403004", "SNOMEDCT:25821008", "medgen:4904", "HP:0000097"], "information_content": 83.1}
{"id": "UniProtKB:Q9NZN8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCR4-NOT transcription complex subunit 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZN8-1", "PR:Q9NZN8-1", "ENSEMBL:ENSP00000229195", "ENSEMBL:ENSP00000229195.3", "ENSEMBL:ENSP00000412091", "ENSEMBL:ENSP00000412091.3", "ENSEMBL:ENSP00000449260", "ENSEMBL:ENSP00000449260.1"], "information_content": 100.0}
{"id": "MONDO:0033618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vissers-Bodmer syndrome", "equivalent_identifiers": ["MONDO:0033618", "DOID:0081397", "OMIM:619033", "UMLS:C5436647", "medgen:1776566"], "information_content": 100.0}
{"id": "UniProtKB:Q13601-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KRR1 small subunit processome component homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13601-1", "PR:Q13601-1", "ENSEMBL:ENSP00000229214", "ENSEMBL:ENSP00000229214.4"], "information_content": 100.0}
{"id": "NCBIGene:51258", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL51", "equivalent_identifiers": ["NCBIGene:51258", "ENSEMBL:ENSG00000111639", "HGNC:14044", "OMIM:611855", "UMLS:C1422368", "UniProtKB:Q4U2R6", "PR:Q4U2R6", "ENSEMBL:ENSP00000229238", "ENSEMBL:ENSP00000229238.3"], "information_content": 92.8}
{"id": "MONDO:0013811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 9", "equivalent_identifiers": ["MONDO:0013811", "DOID:0111472", "OMIM:614582", "orphanet:319509", "UMLS:C4706315", "SNOMEDCT:763209008", "medgen:1634481"], "information_content": 100.0}
{"id": "NCBIGene:84519", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACRBP", "equivalent_identifiers": ["NCBIGene:84519", "ENSEMBL:ENSG00000111644", "HGNC:17195", "OMIM:608352", "UMLS:C1332008", "UniProtKB:A0A140VJD6", "UniProtKB:Q8NEB7", "PR:Q8NEB7", "ENSEMBL:ENSP00000229243", "ENSEMBL:ENSP00000229243.2", "UMLS:C1098486", "MESH:C485651"], "information_content": 100.0}
{"id": "UniProtKB:P16520-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P16520-1", "PR:P16520-1", "ENSEMBL:ENSP00000229264", "ENSEMBL:ENSP00000229264.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUD6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cholinephosphotransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUD6-1", "PR:Q8WUD6-1", "ENSEMBL:ENSP00000229266", "ENSEMBL:ENSP00000229266.3"], "information_content": 100.0}
{"id": "MONDO:0013505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 9", "equivalent_identifiers": ["MONDO:0013505", "DOID:0111156", "OMIM:613958", "UMLS:C3151407", "medgen:462757"], "information_content": 100.0}
{"id": "UniProtKB:P45974-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 5 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P45974-1", "PR:P45974-1", "ENSEMBL:ENSP00000229268", "ENSEMBL:ENSP00000229268.8"], "information_content": 100.0}
{"id": "UniProtKB:P60174-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "triosephosphate isomerase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P60174-3", "PR:P60174-3", "ENSEMBL:ENSP00000229270", "ENSEMBL:ENSP00000229270.4", "ENSEMBL:ENSP00000484435", "ENSEMBL:ENSP00000484435.1"], "information_content": 100.0}
{"id": "MONDO:0014221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "triosephosphate isomerase deficiency", "equivalent_identifiers": ["MONDO:0014221", "DOID:0050884", "OMIM:615512", "orphanet:868", "UMLS:C0398562", "UMLS:C1860808", "MESH:C566029", "NCIT:C131652", "SNOMEDCT:234405009", "medgen:349893"], "information_content": 100.0}
{"id": "MONDO:0005971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "staphyloenterotoxemia", "equivalent_identifiers": ["MONDO:0005971", "DOID:96", "EFO:0007497", "UMLS:C0038159", "MESH:D013202", "MEDDRA:10041921", "NCIT:C35037", "SNOMEDCT:84622004", "medgen:52482", "ICD10:A05.0", "ICD9:005.0"], "information_content": 100.0}
{"id": "MONDO:0005725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cyclosporiasis", "equivalent_identifiers": ["MONDO:0005725", "DOID:12750", "orphanet:210", "EFO:0007230", "UMLS:C0343398", "UMLS:C4274225", "MESH:D021866", "MEDDRA:10066411", "NCIT:C128409", "SNOMEDCT:240372001", "SNOMEDCT:716860005", "medgen:91014", "icd11.foundation:833744511", "ICD10:A07.4", "ICD9:007.5"], "information_content": 100.0}
{"id": "NCBIGene:113246", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C12orf57", "equivalent_identifiers": ["NCBIGene:113246", "ENSEMBL:ENSG00000111678", "HGNC:29521", "OMIM:615140", "UMLS:C1824378", "UniProtKB:F5GXW5", "ENSEMBL:ENSP00000440937", "ENSEMBL:ENSP00000440937.1", "UniProtKB:Q99622", "PR:Q99622", "ENSEMBL:ENSP00000229281", "ENSEMBL:ENSP00000229281.5", "ENSEMBL:ENSP00000440602", "ENSEMBL:ENSP00000440602.1", "UMLS:C5780774", "UniProtKB:U3KQ85", "ENSEMBL:ENSP00000475635", "ENSEMBL:ENSP00000475635.1"], "information_content": 95.4}
{"id": "MONDO:0011720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 3", "equivalent_identifiers": ["MONDO:0011720", "DOID:0070168", "OMIM:606766", "UMLS:C1847540", "UMLS:C4721889", "MESH:C564665", "medgen:1648302"], "information_content": 100.0}
{"id": "MONDO:0013070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 7", "equivalent_identifiers": ["MONDO:0013070", "DOID:0070173", "OMIM:612997", "UMLS:C2751811", "MESH:C567832", "medgen:414478"], "information_content": 100.0}
{"id": "MONDO:0014970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 17", "equivalent_identifiers": ["MONDO:0014970", "DOID:0070174", "OMIM:617214", "UMLS:C4310666", "medgen:934633"], "information_content": 100.0}
{"id": "MONDO:0010052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 4", "equivalent_identifiers": ["MONDO:0010052", "DOID:0070176", "OMIM:270960", "UMLS:C0232981", "UMLS:C3279437", "MESH:C536875", "MEDDRA:10041494", "MEDDRA:10041495", "SNOMEDCT:85716005", "medgen:68568"], "information_content": 100.0}
{"id": "MONDO:0014172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 12", "equivalent_identifiers": ["MONDO:0014172", "DOID:0070171", "OMIM:615413", "UMLS:C3809427", "medgen:815757"], "information_content": 100.0}
{"id": "MONDO:0014365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 13", "equivalent_identifiers": ["MONDO:0014365", "DOID:0070182", "OMIM:615841", "UMLS:C4014449", "medgen:862886"], "information_content": 100.0}
{"id": "MONDO:0007161", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 2", "equivalent_identifiers": ["MONDO:0007161", "DOID:0070164", "OMIM:108420", "UMLS:C1862459", "medgen:400056"], "information_content": 100.0}
{"id": "MONDO:0054615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 18", "equivalent_identifiers": ["MONDO:0054615", "DOID:0070165", "OMIM:617576", "UMLS:C4539783", "medgen:1617309"], "information_content": 100.0}
{"id": "MONDO:0007060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Globozoospermia", "equivalent_identifiers": ["MONDO:0007060", "DOID:0070167", "OMIM:102530", "UMLS:C0403825", "UMLS:C4225503", "NCIT:C158500", "SNOMEDCT:236818008", "medgen:96048", "HP:0012205"], "information_content": 90.9}
{"id": "MONDO:0013901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 10", "equivalent_identifiers": ["MONDO:0013901", "DOID:0070178", "OMIM:614822", "UMLS:C3553793", "medgen:766707"], "information_content": 100.0}
{"id": "MONDO:0014366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 14", "equivalent_identifiers": ["MONDO:0014366", "DOID:0070179", "OMIM:615842", "UMLS:C4014454", "medgen:862891"], "information_content": 100.0}
{"id": "MONDO:0013504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 8", "equivalent_identifiers": ["MONDO:0013504", "DOID:0070169", "OMIM:613957", "UMLS:C3151406", "medgen:462756"], "information_content": 100.0}
{"id": "MONDO:0014037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 11", "equivalent_identifiers": ["MONDO:0014037", "DOID:0070180", "OMIM:615081", "UMLS:C3554453", "medgen:767367"], "information_content": 100.0}
{"id": "MONDO:0005095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloarthropathy", "equivalent_identifiers": ["MONDO:0005095", "DOID:1123", "EFO:0000706", "UMLS:C0949691", "MESH:D025242", "MEDDRA:10051265", "MEDDRA:10052775", "MEDDRA:10056449", "NCIT:C116778", "medgen:181888"], "information_content": 84.8}
{"id": "NCBIGene:339", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOBEC1", "equivalent_identifiers": ["NCBIGene:339", "ENSEMBL:ENSG00000111701", "HGNC:604", "OMIM:600130", "UMLS:C1412472", "UniProtKB:P41238", "PR:P41238", "ENSEMBL:ENSP00000229304", "ENSEMBL:ENSP00000229304.4", "UMLS:C4308138", "MESH:C000605089"], "information_content": 100.0}
{"id": "UniProtKB:Q9H9S0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein NANOG isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9S0-1", "PR:Q9H9S0-1", "ENSEMBL:ENSP00000229307", "ENSEMBL:ENSP00000229307.4"], "information_content": 100.0}
{"id": "MONDO:0956962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign teratoma", "equivalent_identifiers": ["MONDO:0956962", "DOID:0080602", "UMLS:C1879828", "MEDDRA:10048460", "NCIT:C67107", "medgen:361206"], "information_content": 77.8}
{"id": "UniProtKB:Q8NFW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acylneuraminate cytidylyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFW8-1", "PR:Q8NFW8-1", "ENSEMBL:ENSP00000229329", "ENSEMBL:ENSP00000229329.2"], "information_content": 100.0}
{"id": "MONDO:0009063", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventriculomegaly-cystic kidney disease", "equivalent_identifiers": ["MONDO:0009063", "DOID:0111625", "OMIM:219730", "orphanet:443988", "UMLS:C1857423", "MESH:C565657", "SNOMEDCT:1216942009", "medgen:346584"], "information_content": 100.0}
{"id": "MONDO:0010818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 12", "equivalent_identifiers": ["MONDO:0010818", "DOID:0110358", "OMIM:600105", "UMLS:C1838647", "MESH:C563999", "medgen:374019"], "information_content": 100.0}
{"id": "MONDO:0011342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SLC35A1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011342", "DOID:0070258", "OMIM:603585", "orphanet:238459", "UMLS:C1970344", "MESH:C567040", "SNOMEDCT:723624008", "medgen:370234"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5Z7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "host cell factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5Z7-1", "PR:Q9Y5Z7-1", "ENSEMBL:ENSP00000229330", "ENSEMBL:ENSP00000229330.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UMR7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 4 member A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMR7-1", "PR:Q9UMR7-1", "ENSEMBL:ENSP00000229332", "ENSEMBL:ENSP00000229332.5"], "information_content": 100.0}
{"id": "MONDO:0012960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 5", "equivalent_identifiers": ["MONDO:0012960", "DOID:0070035", "OMIM:612621", "orphanet:544254", "UMLS:C2675473", "MESH:C567234", "NCIT:C178414", "SNOMEDCT:1222656005", "medgen:382611"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "single-stranded DNA cytosine deaminase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZX7-1", "PR:Q9GZX7-1", "ENSEMBL:ENSP00000229335", "ENSEMBL:ENSP00000229335.6"], "information_content": 100.0}
{"id": "UniProtKB:Q15286-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-35 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15286-1", "PR:Q15286-1", "ENSEMBL:ENSP00000229340", "ENSEMBL:ENSP00000229340.5"], "information_content": 100.0}
{"id": "MONDO:0800445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Birt-Hogg-Dube syndrome 1", "equivalent_identifiers": ["MONDO:0800445", "DOID:0050676", "OMIM:135150", "orphanet:122", "UMLS:C5779556", "MESH:D058249", "NCIT:C28244", "SNOMEDCT:110985001"], "information_content": 90.9}
{"id": "NCBIGene:1337", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX6A1", "equivalent_identifiers": ["NCBIGene:1337", "ENSEMBL:ENSG00000111775", "HGNC:2277", "OMIM:602072", "UMLS:C1413646", "UniProtKB:H6SG15", "UMLS:C1143317", "MESH:C472626", "UniProtKB:P12074", "PR:P12074", "ENSEMBL:ENSP00000229379", "ENSEMBL:ENSP00000229379.2"], "information_content": 95.4}
{"id": "NCBIGene:8683", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRSF9", "equivalent_identifiers": ["NCBIGene:8683", "ENSEMBL:ENSG00000111786", "HGNC:10791", "OMIM:601943", "UMLS:C1420000", "UniProtKB:Q13242", "PR:Q13242", "ENSEMBL:ENSP00000229390", "ENSEMBL:ENSP00000229390.3", "UMLS:C1741702", "MESH:C000595778"], "information_content": 90.9}
{"id": "UniProtKB:Q9NVK5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FGFR1 oncogene partner 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVK5-1", "PR:Q9NVK5-1", "ENSEMBL:ENSP00000229395", "ENSEMBL:ENSP00000229395.3"], "information_content": 100.0}
{"id": "NCBIGene:3820", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLRB1", "equivalent_identifiers": ["NCBIGene:3820", "ENSEMBL:ENSG00000111796", "HGNC:6373", "OMIM:602890", "UMLS:C1334310", "UniProtKB:Q12918", "PR:Q12918", "ENSEMBL:ENSP00000229402", "ENSEMBL:ENSP00000229402.3", "UMLS:C1689853", "MESH:C527203"], "information_content": 89.4}
{"id": "UniProtKB:Q6PHW0-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "iodotyrosine deiodinase 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q6PHW0-4", "PR:Q6PHW0-4", "ENSEMBL:ENSP00000229447", "ENSEMBL:ENSP00000229447.5"], "information_content": 100.0}
{"id": "MONDO:0024545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Miyoshi muscular dystrophy 1", "equivalent_identifiers": ["MONDO:0024545", "DOID:0070199", "OMIM:254130", "UMLS:C4551973", "medgen:1640757"], "information_content": 100.0}
{"id": "UniProtKB:Q5TD94-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "radial spoke head protein 4 homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TD94-1", "PR:Q5TD94-1", "ENSEMBL:ENSP00000229554", "ENSEMBL:ENSP00000229554.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96IZ2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "androgen-dependent TFPI-regulating protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96IZ2-2", "PR:Q96IZ2-2", "ENSEMBL:ENSP00000229583", "ENSEMBL:ENSP00000229583.5"], "information_content": 100.0}
{"id": "NCBIGene:25842", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASF1A", "equivalent_identifiers": ["NCBIGene:25842", "ENSEMBL:ENSG00000111875", "HGNC:20995", "OMIM:609189", "UMLS:C1427233", "UniProtKB:Q9Y294", "PR:Q9Y294", "ENSEMBL:ENSP00000229595", "ENSEMBL:ENSP00000229595.5", "UMLS:C1310141", "MESH:C491641"], "information_content": 89.4}
{"id": "NCBIGene:135114", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HINT3", "equivalent_identifiers": ["NCBIGene:135114", "ENSEMBL:ENSG00000111911", "HGNC:18468", "OMIM:609998", "UMLS:C1425533", "UniProtKB:Q9NQE9", "PR:Q9NQE9", "ENSEMBL:ENSP00000229633", "ENSEMBL:ENSP00000229633.5", "UMLS:C1433123"], "information_content": 100.0}
{"id": "MONDO:0004183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "axonal neuropathy", "equivalent_identifiers": ["MONDO:0004183", "DOID:7319", "UMLS:C0270921", "UMLS:C1263857", "MEDDRA:10003882", "NCIT:C27301", "SNOMEDCT:128208007", "SNOMEDCT:60703000", "medgen:266071", "HP:0003477"], "information_content": 88.2}
{"id": "NCBIGene:80329", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ULBP1", "equivalent_identifiers": ["NCBIGene:80329", "ENSEMBL:ENSG00000111981", "HGNC:14893", "OMIM:605697", "UMLS:C1423032", "UniProtKB:Q9BZM6", "PR:Q9BZM6", "ENSEMBL:ENSP00000229708", "ENSEMBL:ENSP00000229708.2", "UMLS:C0965240", "MESH:C423231"], "information_content": 100.0}
{"id": "UniProtKB:Q53GD3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choline transporter-like protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53GD3-1", "PR:Q53GD3-1", "ENSEMBL:ENSP00000229729", "ENSEMBL:ENSP00000229729.6", "ENSEMBL:ENSP00000372870", "ENSEMBL:ENSP00000372870.4", "ENSEMBL:ENSP00000393939", "ENSEMBL:ENSP00000393939.2", "ENSEMBL:ENSP00000399161", "ENSEMBL:ENSP00000399161.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKT4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKT4-1", "PR:Q9UKT4-1", "ENSEMBL:ENSP00000229758", "ENSEMBL:ENSP00000229758.3"], "information_content": 100.0}
{"id": "NCBIGene:2178", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FANCE", "equivalent_identifiers": ["NCBIGene:2178", "ENSEMBL:ENSG00000112039", "HGNC:3586", "OMIM:613976", "UMLS:C1414531", "UniProtKB:A0A8Q3WL50", "ENSEMBL:ENSP00000512511", "ENSEMBL:ENSP00000512511.1", "UniProtKB:A0A8Q3WMB8", "ENSEMBL:ENSP00000512512", "ENSEMBL:ENSP00000512512.1", "UniProtKB:Q9HB96", "PR:Q9HB96", "ENSEMBL:ENSP00000229769", "ENSEMBL:ENSP00000229769.2", "UMLS:C1447811", "MESH:C499907"], "information_content": 95.4}
{"id": "MONDO:0012908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement component 6 deficiency", "equivalent_identifiers": ["MONDO:0012908", "DOID:0060299", "OMIM:612446", "UMLS:C2676232", "UMLS:C2676233", "MESH:C567307", "MESH:C567308", "medgen:436639"], "information_content": 100.0}
{"id": "MONDO:0008840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia telangiectasia", "equivalent_identifiers": ["MONDO:0008840", "DOID:12704", "OMIM:208900", "orphanet:100", "UMLS:C0004135", "MESH:D001260", "MEDDRA:10003594", "NCIT:C2887", "SNOMEDCT:68504005", "medgen:439"], "information_content": 90.9}
{"id": "UniProtKB:O00294-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubby-related protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00294-1", "PR:O00294-1", "ENSEMBL:ENSP00000229771", "ENSEMBL:ENSP00000229771.6"], "information_content": 100.0}
{"id": "MONDO:0009007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jalili syndrome", "equivalent_identifiers": ["MONDO:0009007", "DOID:0111404", "OMIM:217080", "orphanet:1873", "UMLS:C3495589", "MESH:C000596385", "SNOMEDCT:707608003", "medgen:501210"], "information_content": 100.0}
{"id": "UniProtKB:Q16539-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase 14 isoform CSBP1 (human)", "equivalent_identifiers": ["UniProtKB:Q16539-2", "PR:Q16539-2", "ENSEMBL:ENSP00000229795", "ENSEMBL:ENSP00000229795.3"], "information_content": 100.0}
{"id": "NCBIGene:11329", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STK38", "equivalent_identifiers": ["NCBIGene:11329", "ENSEMBL:ENSG00000112079", "HGNC:17847", "OMIM:606964", "UMLS:C1425128", "UniProtKB:Q15208", "PR:Q15208", "ENSEMBL:ENSP00000229812", "ENSEMBL:ENSP00000229812.7", "UMLS:C1453806", "MESH:C491614"], "information_content": 92.8}
{"id": "NCBIGene:3111", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLA-DOA", "equivalent_identifiers": ["NCBIGene:3111", "ENSEMBL:ENSG00000204252", "HGNC:4936", "OMIM:142930", "UMLS:C1415565", "UniProtKB:A0A1V0E3M7", "UniProtKB:A0A1V0E3N1", "UniProtKB:A0A1V0E3N3", "UniProtKB:A0A1V0E3N6", "UniProtKB:A0A1V0E3N7", "UniProtKB:A0A1V0E3P0", "UniProtKB:A0A1V0E3P1", "UniProtKB:A0A1V0E3P3", "UniProtKB:A0A1V0E3P6", "UniProtKB:A0A1V0E3P8", "UniProtKB:A0A1V0E3P9", "UniProtKB:A0A1V0E3Q1", "UniProtKB:A0A1V0E3Q2", "UniProtKB:A0A1V0E3Q3", "UniProtKB:A0A1V0E3Q4", "UniProtKB:A0A1V0E3Q5", "UniProtKB:A0A1V0E3Q6", "UniProtKB:A0A1V0E3Q7", "UniProtKB:A0A1V0E3Q8", "UniProtKB:A0A1V0E3R0", "UniProtKB:A0A1V0E3R3", "UniProtKB:A0A1V0E3R4", "UniProtKB:A0A1V0E3R6", "UniProtKB:A0A1V0E3R8", "UniProtKB:A0A1V0E3S0", "UniProtKB:A0A1V0E3S4", "UniProtKB:A0A1V0E3S6", "UniProtKB:A0A1V0E3S7", "UniProtKB:A0A1V0E3T1", "UniProtKB:P06340", "PR:P06340", "ENSEMBL:ENSP00000229829", "ENSEMBL:ENSP00000229829.3", "ENSEMBL:ENSP00000372713", "ENSEMBL:ENSP00000372713.4", "ENSEMBL:ENSP00000395737", "ENSEMBL:ENSP00000395737.2", "ENSEMBL:ENSP00000397945", "ENSEMBL:ENSP00000397945.2", "ENSEMBL:ENSP00000398819", "ENSEMBL:ENSP00000398819.2", "ENSEMBL:ENSP00000401504", "ENSEMBL:ENSP00000401504.2", "ENSEMBL:ENSP00000416448", "ENSEMBL:ENSP00000416448.2", "UniProtKB:X5CF87"], "information_content": 87.2}
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{"id": "UniProtKB:P80108-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol-glycan-specific phospholipase D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P80108-1", "PR:P80108-1", "ENSEMBL:ENSP00000230036", "ENSEMBL:ENSP00000230036.1"], "information_content": 100.0}
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{"id": "UniProtKB:Q9NPJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-coenzyme A thioesterase 13 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPJ3-1", "PR:Q9NPJ3-1", "ENSEMBL:ENSP00000230048", "ENSEMBL:ENSP00000230048.3"], "information_content": 100.0}
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{"id": "NCBIGene:135152", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B3GAT2", "equivalent_identifiers": ["NCBIGene:135152", "ENSEMBL:ENSG00000112309", "HGNC:922", "OMIM:607497", "UMLS:C1412717", "UniProtKB:Q9NPZ5", "PR:Q9NPZ5", "ENSEMBL:ENSP00000230053", "ENSEMBL:ENSP00000230053.6", "UMLS:C1259497", "MESH:C475472"], "information_content": 100.0}
{"id": "NCBIGene:51053", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GMNN", "equivalent_identifiers": ["NCBIGene:51053", "ENSEMBL:ENSG00000112312", "HGNC:17493", "OMIM:602842", "UMLS:C1333683", "UniProtKB:O75496", "PR:O75496", "ENSEMBL:ENSP00000230056", "ENSEMBL:ENSP00000230056.3", "ENSEMBL:ENSP00000348902", "ENSEMBL:ENSP00000348902.3", "ENSEMBL:ENSP00000477506", "ENSEMBL:ENSP00000477506.1", "UMLS:C0676272", "MESH:C577995"], "information_content": 92.8}
{"id": "UniProtKB:O60493-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60493-1", "PR:O60493-1", "ENSEMBL:ENSP00000230085", "ENSEMBL:ENSP00000230085.8"], "information_content": 100.0}
{"id": "MONDO:0010890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrocardiofacial syndrome", "equivalent_identifiers": ["MONDO:0010890", "DOID:0070419", "OMIM:600460", "orphanet:2008", "UMLS:C1838121", "MESH:C563936", "SNOMEDCT:890221004", "medgen:324947", "icd11.foundation:976844546"], "information_content": 100.0}
{"id": "UniProtKB:O43167-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and BTB domain-containing protein 24 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43167-1", "PR:O43167-1", "ENSEMBL:ENSP00000230122", "ENSEMBL:ENSP00000230122.4", "ENSEMBL:ENSP00000513766", "ENSEMBL:ENSP00000513766.1"], "information_content": 100.0}
{"id": "MONDO:0000133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency-centromeric instability-facial anomalies syndrome", "equivalent_identifiers": ["MONDO:0000133", "DOID:0090007", "OMIM.PS:242860", "orphanet:2268", "UMLS:C0398788", "MESH:C537362", "SNOMEDCT:234633000", "medgen:140770", "ICD10:D84.8"], "information_content": 89.4}
{"id": "MONDO:0009338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatic veno-occlusive disease-immunodeficiency syndrome", "equivalent_identifiers": ["MONDO:0009338", "DOID:0112254", "OMIM:235550", "orphanet:79124", "UMLS:C1856128", "UMLS:C4510630", "MESH:C537257", "SNOMEDCT:724361001", "medgen:344659", "icd11.foundation:712514250"], "information_content": 100.0}
{"id": "MONDO:0013429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 40", "equivalent_identifiers": ["MONDO:0013429", "DOID:0110375", "OMIM:613801", "UMLS:C3151107", "medgen:462457"], "information_content": 100.0}
{"id": "NCBIGene:9896", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FIG4", "equivalent_identifiers": ["NCBIGene:9896", "ENSEMBL:ENSG00000112367", "HGNC:16873", "OMIM:609390", "UMLS:C1424608", "UniProtKB:Q92562", "PR:Q92562", "ENSEMBL:ENSP00000230124", "ENSEMBL:ENSP00000230124.4", "UMLS:C2001821", "MESH:C522215"], "information_content": 92.8}
{"id": "UniProtKB:Q86WB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein unc-93 homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WB7-1", "PR:Q86WB7-1", "ENSEMBL:ENSP00000230256", "ENSEMBL:ENSP00000230256.3"], "information_content": 100.0}
{"id": "MONDO:0008910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carboxypeptidase N deficiency", "equivalent_identifiers": ["MONDO:0008910", "DOID:0111583", "OMIM:212070", "UMLS:C0398782", "MESH:C562876", "NCIT:C132196", "SNOMEDCT:124493003", "SNOMEDCT:234627009", "medgen:98312"], "information_content": 100.0}
{"id": "DOID:0070271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lynch syndrome 1", "equivalent_identifiers": ["DOID:0070271", "OMIM:120435", "UMLS:C2936783", "NCIT:C6725"], "information_content": 92.8}
{"id": "NCBIGene:168090", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C6orf118", "equivalent_identifiers": ["NCBIGene:168090", "ENSEMBL:ENSG00000112539", "HGNC:21233", "UMLS:C1427437", "UniProtKB:Q5T5N4", "PR:Q5T5N4", "ENSEMBL:ENSP00000230301", "ENSEMBL:ENSP00000230301.8"], "information_content": 100.0}
{"id": "MONDO:0019773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myelocele", "equivalent_identifiers": ["MONDO:0019773", "DOID:0060326", "orphanet:93969", "EFO:1001369", "UMLS:C0025312", "UMLS:C0086664", "UMLS:C0391858", "UMLS:C0751316", "UMLS:C1306753", "MESH:D008591", "MEDDRA:10027287", "MEDDRA:10067085", "NCIT:C98874", "SNOMEDCT:414667000", "SNOMEDCT:82058009", "medgen:7538", "icd11.foundation:1200528084", "ICD10:Q05", "HP:0002475"], "information_content": 85.5}
{"id": "NCBIGene:4188", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MDFI", "equivalent_identifiers": ["NCBIGene:4188", "ENSEMBL:ENSG00000112559", "HGNC:6967", "OMIM:604971", "UMLS:C1417085", "UniProtKB:B1AKB6", "ENSEMBL:ENSP00000362141", "ENSEMBL:ENSP00000362141.4", "UMLS:C1449021", "MESH:C101295", "UniProtKB:Q99750", "PR:Q99750", "ENSEMBL:ENSP00000230321", "ENSEMBL:ENSP00000230321.6", "ENSEMBL:ENSP00000362142", "ENSEMBL:ENSP00000362142.2"], "information_content": 100.0}
{"id": "NCBIGene:705", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BYSL", "equivalent_identifiers": ["NCBIGene:705", "ENSEMBL:ENSG00000112578", "HGNC:1157", "OMIM:603871", "UMLS:C1412858", "UniProtKB:Q13895", "PR:Q13895", "ENSEMBL:ENSP00000230340", "ENSEMBL:ENSP00000230340.4", "ENSEMBL:ENSP00000520508", "ENSEMBL:ENSP00000520508.1", "UMLS:C1610200", "MESH:C112245"], "information_content": 100.0}
{"id": "MONDO:0859355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory poikiloderma with hair abnormalities and acral keratoses", "equivalent_identifiers": ["MONDO:0859355", "DOID:0070510", "OMIM:620199", "UMLS:C5774293", "medgen:1824066"], "information_content": 100.0}
{"id": "MONDO:0012561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CAKUT1", "equivalent_identifiers": ["MONDO:0012561", "DOID:0080206", "OMIM:610805", "UMLS:C1835826", "MESH:C563661", "medgen:322763"], "information_content": 100.0}
{"id": "UniProtKB:P20226-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TATA-box-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20226-1", "PR:P20226-1", "ENSEMBL:ENSP00000230354", "ENSEMBL:ENSP00000230354.5", "ENSEMBL:ENSP00000375942", "ENSEMBL:ENSP00000375942.2"], "information_content": 100.0}
{"id": "MONDO:0006711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "constrictive pericarditis", "equivalent_identifiers": ["MONDO:0006711", "DOID:11481", "EFO:1000878", "UMLS:C0031048", "UMLS:C0031876", "MESH:D010494", "MEDDRA:10010783", "MEDDRA:10034487", "NCIT:C78246", "SNOMEDCT:85598007", "medgen:18378", "icd11.foundation:1722995229", "ICD9:423.2", "HP:0002563"], "information_content": 100.0}
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{"id": "NCBIGene:5961", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRPH2", "equivalent_identifiers": ["NCBIGene:5961", "ENSEMBL:ENSG00000112619", "HGNC:9942", "OMIM:179605", "UMLS:C1826711", "UniProtKB:P23942", "PR:P23942", "ENSEMBL:ENSP00000230381", "ENSEMBL:ENSP00000230381.5", "UMLS:C3711855", "MESH:C578997"], "information_content": 95.4}
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{"id": "MONDO:0007080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glucocorticoid-remediable aldosteronism", "equivalent_identifiers": ["MONDO:0007080", "DOID:14080", "OMIM:103900", "orphanet:403", "UMLS:C3838731", "MESH:C563177", "NCIT:C123248", "NCIT:C127161", "SNOMEDCT:703232003", "medgen:824577", "ICD10:E26.02", "ICD9:255.11"], "information_content": 100.0}
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{"id": "NCBIGene:6678", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPARC", "equivalent_identifiers": ["NCBIGene:6678", "ENSEMBL:ENSG00000113140", "HGNC:11219", "OMIM:182120", "UMLS:C1420342", "UniProtKB:P09486", "PR:P09486", "ENSEMBL:ENSP00000231061", "ENSEMBL:ENSP00000231061.4", "UMLS:C3530142", "MESH:C577241"], "information_content": 76.7}
{"id": "MONDO:0018936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoblastoma", "equivalent_identifiers": ["MONDO:0018936", "DOID:0060098", "orphanet:58040", "EFO:1000410", "UMLS:C0029417", "MESH:D018215", "MEDDRA:10004430", "NCIT:C3294", "SNOMEDCT:55333008", "medgen:18212", "icd11.foundation:1948326341", "HP:0011846"], "information_content": 89.4}
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{"id": "MONDO:0013954", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency", "equivalent_identifiers": ["MONDO:0013954", "DOID:0111950", "OMIM:614890", "orphanet:319558", "UMLS:C4013948", "medgen:862385"], "information_content": 100.0}
{"id": "NCBIGene:7265", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTC1", "equivalent_identifiers": ["NCBIGene:7265", "ENSEMBL:ENSG00000113312", "HGNC:12391", "OMIM:601963", "UMLS:C1421212", "UniProtKB:Q99614", "PR:Q99614", "ENSEMBL:ENSP00000231238", "ENSEMBL:ENSP00000231238.4", "ENSEMBL:ENSP00000429225", "ENSEMBL:ENSP00000429225.1", "ENSEMBL:ENSP00000507891", "ENSEMBL:ENSP00000507891.1", "UMLS:C1259273", "MESH:C475144"], "information_content": 95.4}
{"id": "UniProtKB:Q9UIQ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucyl-cystinyl aminopeptidase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIQ6-1", "PR:Q9UIQ6-1", "ENSEMBL:ENSP00000231368", "ENSEMBL:ENSP00000231368.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYV1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alanine--glyoxylate aminotransferase 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYV1-1", "PR:Q9BYV1-1", "ENSEMBL:ENSP00000231420", "ENSEMBL:ENSP00000231420.6"], "information_content": 100.0}
{"id": "MONDO:0009111", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dihydropyrimidinuria", "equivalent_identifiers": ["MONDO:0009111", "DOID:0111629", "OMIM:222748", "orphanet:38874", "UMLS:C0342803", "UMLS:C3495551", "MESH:C562815", "SNOMEDCT:238014002", "medgen:83353"], "information_content": 100.0}
{"id": "MONDO:0009636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)", "equivalent_identifiers": ["MONDO:0009636", "DOID:0080121", "OMIM:251880", "orphanet:279934", "UMLS:C5191055", "SNOMEDCT:783734000", "medgen:1682503"], "information_content": 100.0}
{"id": "MONDO:0002474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hyperoxaluria", "equivalent_identifiers": ["MONDO:0002474", "DOID:2977", "OMIM.PS:259900", "orphanet:416", "UMLS:C0020500", "UMLS:C0020501", "MESH:D006959", "MESH:D006960", "MEDDRA:10020703", "MEDDRA:10084111", "NCIT:C123158", "SNOMEDCT:17901006", "SNOMEDCT:367621000119107", "medgen:5697", "ICD10:E72.53", "ICD10:R82.992", "HP:0003159"], "information_content": 90.9}
{"id": "UniProtKB:P05112-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P05112-1", "PR:P05112-1", "ENSEMBL:ENSP00000231449", "ENSEMBL:ENSP00000231449.2"], "information_content": 100.0}
{"id": "MONDO:0006572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lichen planus", "equivalent_identifiers": ["MONDO:0006572", "DOID:9201", "EFO:1000726", "UMLS:C0023646", "MESH:D008010", "MEDDRA:10024429", "NCIT:C3189", "SNOMEDCT:4776004", "medgen:9753", "icd11.foundation:1402978031", "ICD10:L43", "ICD9:697.0"], "information_content": 83.6}
{"id": "MONDO:0006604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rosacea", "equivalent_identifiers": ["MONDO:0006604", "DOID:8881", "EFO:1000760", "UMLS:C0005874", "UMLS:C0035854", "UMLS:C0239488", "UMLS:C4020880", "UMLS:C5848177", "MESH:D001821", "MESH:D012393", "MEDDRA:10000514", "MEDDRA:10015212", "MEDDRA:10016046", "MEDDRA:10016823", "MEDDRA:10016826", "MEDDRA:10039218", "MEDDRA:10039219", "NCIT:C97136", "SNOMEDCT:20255002", "SNOMEDCT:271811009", "SNOMEDCT:398909004", "medgen:11269", "icd11.foundation:134161404", "ICD10:L71", "ICD9:695.3", "HP:0001041"], "information_content": 95.4}
{"id": "MONDO:0005230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cellulitis", "equivalent_identifiers": ["MONDO:0005230", "DOID:3488", "EFO:0003035", "UMLS:C0007642", "UMLS:C0007646", "UMLS:C0162627", "MESH:D002481", "MEDDRA:10007882", "MEDDRA:10049022", "MEDDRA:10052891", "NCIT:C157794", "NCIT:C26715", "NCIT:C34454", "SNOMEDCT:128045006", "SNOMEDCT:128936008", "SNOMEDCT:385627004", "SNOMEDCT:62837005", "medgen:40174", "ICD10:L03.90", "HP:0100658"], "information_content": 89.4}
{"id": "MONDO:0004646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "decubitus ulcer", "equivalent_identifiers": ["MONDO:0004646", "DOID:8717", "EFO:0007067", "UMLS:C0011127", "UMLS:C4554531", "MESH:D003668", "MEDDRA:10004196", "MEDDRA:10011985", "MEDDRA:10036651", "MEDDRA:10077779", "MEDDRA:10087614", "MEDDRA:10087615", "NCIT:C50706", "SNOMEDCT:1163214006", "SNOMEDCT:1163215007", "SNOMEDCT:399912005", "SNOMEDCT:420226006", "medgen:1789997", "ICD10:L89", "ICD9:707.0", "HP:0012399"], "information_content": 95.4}
{"id": "UniProtKB:P05113-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P05113-1", "PR:P05113-1", "ENSEMBL:ENSP00000231454", "ENSEMBL:ENSP00000231454.1"], "information_content": 100.0}
{"id": "MONDO:0006547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exanthem", "equivalent_identifiers": ["MONDO:0006547", "DOID:0050486", "EFO:1000697", "UMLS:C0015230", "UMLS:C5779628", "UMLS:C5779629", "MESH:D005076", "MEDDRA:10015585", "MEDDRA:10015587", "MEDDRA:10037844", "MEDDRA:10037845", "MEDDRA:10037872", "MEDDRA:10040841", "MEDDRA:10040913", "MEDDRA:10058692", "NCIT:C111884", "NCIT:C39594", "SNOMEDCT:112625008", "SNOMEDCT:271807003", "medgen:8732", "ICD10:R21", "ICD9:782.1", "HP:0000988"], "information_content": 74.7}
{"id": "UniProtKB:Q92187-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92187-1", "PR:Q92187-1", "ENSEMBL:ENSP00000231461", "ENSEMBL:ENSP00000231461.4"], "information_content": 100.0}
{"id": "NCBIGene:51294", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCDH12", "equivalent_identifiers": ["NCBIGene:51294", "ENSEMBL:ENSG00000113555", "HGNC:8657", "OMIM:605622", "UMLS:C1418307", "UniProtKB:Q7Z738", "UniProtKB:Q9NPG4", "PR:Q9NPG4", "ENSEMBL:ENSP00000231484", "ENSEMBL:ENSP00000231484.3", "UMLS:C1611305", "MESH:C113432"], "information_content": 95.4}
{"id": "MONDO:0012293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 23", "equivalent_identifiers": ["MONDO:0012293", "DOID:0110481", "OMIM:609533", "UMLS:C1836027", "MESH:C563705", "medgen:332110"], "information_content": 100.0}
{"id": "UniProtKB:P63208-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "S-phase kinase-associated protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P63208-1", "PR:P63208-1", "ENSEMBL:ENSP00000231487", "ENSEMBL:ENSP00000231487.9", "ENSEMBL:ENSP00000429686", "ENSEMBL:ENSP00000429686.1", "ENSEMBL:ENSP00000429961", "ENSEMBL:ENSP00000429961.1"], "information_content": 100.0}
{"id": "MONDO:0008306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ABri amyloidosis", "equivalent_identifiers": ["MONDO:0008306", "DOID:0070029", "OMIM:176500", "orphanet:97345", "UMLS:C0342608", "UMLS:C5190835", "MESH:C538208", "SNOMEDCT:783161005", "medgen:1677186", "icd11.foundation:1037669378"], "information_content": 100.0}
{"id": "UniProtKB:O75694-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear pore complex protein Nup155 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75694-1", "PR:O75694-1", "ENSEMBL:ENSP00000231498", "ENSEMBL:ENSP00000231498.3", "ENSEMBL:ENSP00000520564", "ENSEMBL:ENSP00000520564.1"], "information_content": 100.0}
{"id": "MONDO:0013169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 5p13 duplication syndrome", "equivalent_identifiers": ["MONDO:0013169", "DOID:0060460", "OMIM:613174", "orphanet:329802", "UMLS:C2750805", "MESH:C567717", "medgen:416385"], "information_content": 100.0}
{"id": "MONDO:0004994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy", "equivalent_identifiers": ["MONDO:0004994", "DOID:0050700", "orphanet:167848", "EFO:0000318", "UMLS:C0036529", "UMLS:C0878544", "MESH:D009202", "MEDDRA:10007635", "MEDDRA:10007636", "MEDDRA:10007640", "MEDDRA:10007642", "MEDDRA:10039826", "MEDDRA:10061033", "MEDDRA:10072122", "NCIT:C34830", "SNOMEDCT:85898001", "medgen:209232", "icd11.foundation:282225286", "ICD10:I42", "ICD9:425", "ICD9:425.9", "HP:0001638"], "information_content": 62.5}
{"id": "UniProtKB:P04150-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glucocorticoid receptor isoform hAlpha-2 (human)", "equivalent_identifiers": ["UniProtKB:P04150-3", "PR:P04150-3", "ENSEMBL:ENSP00000231509", "ENSEMBL:ENSP00000231509.3", "ENSEMBL:ENSP00000377979", "ENSEMBL:ENSP00000377979.2", "ENSEMBL:ENSP00000422518", "ENSEMBL:ENSP00000422518.1"], "information_content": 100.0}
{"id": "MONDO:0016035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nelson syndrome", "equivalent_identifiers": ["MONDO:0016035", "DOID:4968", "OMIM:125550", "orphanet:199244", "UMLS:C0027577", "UMLS:C1852159", "MESH:C531754", "MESH:D009347", "MEDDRA:10028913", "MEDDRA:10036327", "NCIT:C84917", "SNOMEDCT:43019009", "medgen:342174", "icd11.foundation:1945677910", "ICD10:E24.1"], "information_content": 100.0}
{"id": "MONDO:0001485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical depressive disorder", "equivalent_identifiers": ["MONDO:0001485", "DOID:12294", "UMLS:C0154437", "MEDDRA:10003748", "SNOMEDCT:191659001", "medgen:509593", "ICD10:F32.89", "ICD9:296.82"], "information_content": 100.0}
{"id": "MONDO:0015999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary pigmented nodular adrenocortical disease", "equivalent_identifiers": ["MONDO:0015999", "DOID:0060280", "OMIM.PS:610489", "UMLS:C4304832", "UMLS:C4331029", "NCIT:C131196", "SNOMEDCT:719274008", "medgen:930501", "icd11.foundation:2003695246"], "information_content": 88.2}
{"id": "NCBIGene:56951", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C5orf15", "equivalent_identifiers": ["NCBIGene:56951", "ENSEMBL:ENSG00000113583", "HGNC:20656", "UMLS:C1540239", "UniProtKB:Q8NC54", "PR:Q8NC54", "ENSEMBL:ENSP00000231512", "ENSEMBL:ENSP00000231512.3"], "information_content": 92.8}
{"id": "MONDO:0012945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 11", "equivalent_identifiers": ["MONDO:0012945", "DOID:0060202", "OMIM:612577", "UMLS:C2675491", "MESH:C567244", "NCIT:C168753", "medgen:393399"], "information_content": 100.0}
{"id": "MONDO:0015274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "berylliosis", "equivalent_identifiers": ["MONDO:0015274", "DOID:10322", "orphanet:133", "EFO:0007168", "UMLS:C0005138", "UMLS:C0221052", "MESH:D001607", "MEDDRA:10004485", "NCIT:C197848", "SNOMEDCT:18121009", "SNOMEDCT:8247009", "medgen:67440", "icd11.foundation:212013370", "ICD10:J63.2"], "information_content": 100.0}
{"id": "UniProtKB:P36406-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM23 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:P36406-1", "PR:P36406-1", "ENSEMBL:ENSP00000231524", "ENSEMBL:ENSP00000231524.9"], "information_content": 100.0}
{"id": "UniProtKB:P54136-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arginine--tRNA ligase, cytoplasmic isoform Complexed (human)", "equivalent_identifiers": ["UniProtKB:P54136-1", "PR:P54136-1", "ENSEMBL:ENSP00000231572", "ENSEMBL:ENSP00000231572.3"], "information_content": 100.0}
{"id": "UniProtKB:P47902-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein CDX-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P47902-1", "PR:P47902-1", "ENSEMBL:ENSP00000231656", "ENSEMBL:ENSP00000231656.7"], "information_content": 100.0}
{"id": "UniProtKB:Q12981-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vesicle transport protein SEC20 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q12981-1", "PR:Q12981-1", "ENSEMBL:ENSP00000231668", "ENSEMBL:ENSP00000231668.9"], "information_content": 100.0}
{"id": "NCBIGene:57709", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC7A14", "equivalent_identifiers": ["NCBIGene:57709", "ENSEMBL:ENSG00000013293", "HGNC:29326", "OMIM:615720", "UMLS:C1822738", "UniProtKB:Q8TBB6", "PR:Q8TBB6", "ENSEMBL:ENSP00000231706", "ENSEMBL:ENSP00000231706.4", "UMLS:C3886398", "MESH:C000593182"], "information_content": 95.4}
{"id": "MONDO:0003614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intravenous leiomyomatosis", "equivalent_identifiers": ["MONDO:0003614", "DOID:5729", "UMLS:C0346200", "NCIT:C4518", "SNOMEDCT:1157175007", "SNOMEDCT:254883003", "medgen:83417"], "information_content": 95.4}
{"id": "MONDO:0009448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iminoglycinuria", "equivalent_identifiers": ["MONDO:0009448", "DOID:0112265", "OMIM:242600", "orphanet:42062", "UMLS:C0268654", "MESH:C536285", "SNOMEDCT:84121007", "medgen:124342", "icd11.foundation:664428532"], "information_content": 100.0}
{"id": "NCBIGene:56920", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEMA3G", "equivalent_identifiers": ["NCBIGene:56920", "ENSEMBL:ENSG00000010319", "HGNC:30400", "OMIM:620997", "UMLS:C1822673", "UniProtKB:Q9NS98", "PR:Q9NS98", "ENSEMBL:ENSP00000231721", "ENSEMBL:ENSP00000231721.2", "UMLS:C3254508", "MESH:C569384"], "information_content": 100.0}
{"id": "UniProtKB:O75800-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger MYND domain-containing protein 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75800-1", "PR:O75800-1", "ENSEMBL:ENSP00000231749", "ENSEMBL:ENSP00000231749.3"], "information_content": 100.0}
{"id": "MONDO:0012160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome", "equivalent_identifiers": ["MONDO:0012160", "DOID:0112300", "OMIM:608940", "orphanet:85167", "UMLS:C1837073", "MESH:C563825", "medgen:324684"], "information_content": 100.0}
{"id": "UniProtKB:P02788-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lactotransferrin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P02788-1", "PR:P02788-1", "ENSEMBL:ENSP00000231751", "ENSEMBL:ENSP00000231751.4"], "information_content": 100.0}
{"id": "UniProtKB:P40692-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA mismatch repair protein Mlh1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P40692-1", "PR:P40692-1", "ENSEMBL:ENSP00000231790", "ENSEMBL:ENSP00000231790.3"], "information_content": 100.0}
{"id": "MONDO:0002156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fallopian tube disorder", "equivalent_identifiers": ["MONDO:0002156", "DOID:1962", "EFO:0009548", "UMLS:C0015556", "MESH:D005184", "MEDDRA:10052094", "NCIT:C26771", "SNOMEDCT:128134005", "medgen:8774"], "information_content": 68.1}
{"id": "UniProtKB:Q08426-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal bifunctional enzyme isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08426-1", "PR:Q08426-1", "ENSEMBL:ENSP00000231887", "ENSEMBL:ENSP00000231887.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96SW2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein cereblon isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96SW2-1", "PR:Q96SW2-1", "ENSEMBL:ENSP00000231948", "ENSEMBL:ENSP00000231948.4"], "information_content": 100.0}
{"id": "MONDO:0013424", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3p- syndrome", "equivalent_identifiers": ["MONDO:0013424", "DOID:0060417", "OMIM:613792", "orphanet:1620", "UMLS:C0795806", "UMLS:C4706503", "MESH:C536804", "SNOMEDCT:449819002", "SNOMEDCT:763528002", "medgen:1643555"], "information_content": 100.0}
{"id": "NCBIGene:3273", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HRG", "equivalent_identifiers": ["NCBIGene:3273", "ENSEMBL:ENSG00000113905", "HGNC:5181", "OMIM:142640", "UMLS:C1455836", "UniProtKB:P04196", "PR:P04196", "ENSEMBL:ENSP00000232003", "ENSEMBL:ENSP00000232003.4", "UMLS:C2742321", "MESH:C000730699"], "information_content": 82.1}
{"id": "NCBIGene:5948", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBP2", "equivalent_identifiers": ["NCBIGene:5948", "ENSEMBL:ENSG00000114113", "HGNC:9920", "OMIM:180280", "UMLS:C1419318", "UniProtKB:P50120", "PR:P50120", "ENSEMBL:ENSP00000232217", "ENSEMBL:ENSP00000232217.2", "UMLS:C1871957", "MESH:C518459"], "information_content": 88.2}
{"id": "MONDO:0000948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xerophthalmia", "equivalent_identifiers": ["MONDO:0000948", "DOID:10138", "UMLS:C0022575", "UMLS:C0043349", "UMLS:C2930821", "MESH:C531719", "MESH:D014985", "MEDDRA:10023350", "MEDDRA:10043166", "MEDDRA:10048221", "MEDDRA:10060861", "NCIT:C34503", "SNOMEDCT:302896008", "SNOMEDCT:363677007", "medgen:9620", "ICD10:E50.7", "ICD9:375.15", "HP:0001097"], "information_content": 95.4}
{"id": "UniProtKB:Q16877-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16877-1", "PR:Q16877-1", "ENSEMBL:ENSP00000232375", "ENSEMBL:ENSP00000232375.3"], "information_content": 100.0}
{"id": "NCBIGene:3280", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HES1", "equivalent_identifiers": ["NCBIGene:3280", "ENSEMBL:ENSG00000114315", "HGNC:5192", "OMIM:139605", "UMLS:C1415725", "UniProtKB:Q14469", "PR:Q14469", "ENSEMBL:ENSP00000232424", "ENSEMBL:ENSP00000232424.3", "UMLS:C0539029", "MESH:C078493"], "information_content": 92.8}
{"id": "NCBIGene:2779", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNAT1", "equivalent_identifiers": ["NCBIGene:2779", "ENSEMBL:ENSG00000114349", "HGNC:4393", "OMIM:139330", "UMLS:C1415148", "UniProtKB:P11488", "PR:P11488", "ENSEMBL:ENSP00000232461", "ENSEMBL:ENSP00000232461.3", "ENSEMBL:ENSP00000387555", "ENSEMBL:ENSP00000387555.1", "UMLS:C0073548", "MESH:C034809"], "information_content": 92.8}
{"id": "MONDO:0007935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystoid macular edema", "equivalent_identifiers": ["MONDO:0007935", "DOID:4447", "OMIM:153880", "orphanet:75381", "UMLS:C0024440", "UMLS:C0730317", "MEDDRA:10051240", "MEDDRA:10058202", "NCIT:C34794", "SNOMEDCT:193387007", "SNOMEDCT:312921000", "medgen:7435", "HP:0011505"], "information_content": 100.0}
{"id": "NCBIGene:11334", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUSC2", "equivalent_identifiers": ["NCBIGene:11334", "ENSEMBL:ENSG00000114383", "HGNC:17034", "OMIM:607052", "UMLS:C1424700", "UniProtKB:O75896", "PR:O75896", "ENSEMBL:ENSP00000232496", "ENSEMBL:ENSP00000232496.4", "UMLS:C1333582", "UMLS:C1568319", "MESH:C499993"], "information_content": 95.4}
{"id": "UniProtKB:Q8WTW4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GATOR1 complex protein NPRL2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WTW4-1", "PR:Q8WTW4-1", "ENSEMBL:ENSP00000232501", "ENSEMBL:ENSP00000232501.3"], "information_content": 100.0}
{"id": "MONDO:0016693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subependymal giant cell astrocytoma", "equivalent_identifiers": ["MONDO:0016693", "DOID:5077", "orphanet:251618", "UMLS:C0205768", "MEDDRA:10073233", "NCIT:C3696", "SNOMEDCT:1586004", "SNOMEDCT:449799008", "medgen:61446", "HP:0009718"], "information_content": 87.2}
{"id": "NCBIGene:59345", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNB4", "equivalent_identifiers": ["NCBIGene:59345", "ENSEMBL:ENSG00000114450", "HGNC:20731", "OMIM:610863", "UMLS:C1427102", "UniProtKB:Q9HAV0", "PR:Q9HAV0", "ENSEMBL:ENSP00000232564", "ENSEMBL:ENSP00000232564.3", "ENSEMBL:ENSP00000501882", "ENSEMBL:ENSP00000501882.1", "ENSEMBL:ENSP00000502628", "ENSEMBL:ENSP00000502628.1", "UMLS:C2713719", "MESH:C534984"], "information_content": 86.3}
{"id": "UniProtKB:Q86VD1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MORC family CW-type zinc finger protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VD1-1", "PR:Q86VD1-1", "ENSEMBL:ENSP00000232603", "ENSEMBL:ENSP00000232603.5"], "information_content": 100.0}
{"id": "UniProtKB:P11172-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uridine 5'-monophosphate synthase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11172-1", "PR:P11172-1", "ENSEMBL:ENSP00000232607", "ENSEMBL:ENSP00000232607.2"], "information_content": 100.0}
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{"id": "MONDO:0010577", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, X-linked 1", "equivalent_identifiers": ["MONDO:0010577", "DOID:0111739", "OMIM:304500", "UMLS:C1844677", "MESH:C564433", "medgen:336749"], "information_content": 100.0}
{"id": "MONDO:0017909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inherited glutathione synthetase deficiency", "equivalent_identifiers": ["MONDO:0017909", "DOID:0080699", "orphanet:32", "MESH:C536835", "NCIT:C128193", "SNOMEDCT:234589002"], "information_content": 92.8}
{"id": "UniProtKB:O94889-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94889-1", "PR:O94889-1", "ENSEMBL:ENSP00000232766", "ENSEMBL:ENSP00000232766.5"], "information_content": 100.0}
{"id": "MONDO:0011274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muenke syndrome", "equivalent_identifiers": ["MONDO:0011274", "DOID:0060703", "OMIM:602849", "orphanet:53271", "UMLS:C1864436", "MESH:C537369", "MEDDRA:10088781", "NCIT:C84904", "SNOMEDCT:440350001", "SNOMEDCT:787407003", "medgen:355217", "icd11.foundation:1860572017"], "information_content": 100.0}
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{"id": "NCBIGene:13", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AADAC", "equivalent_identifiers": ["NCBIGene:13", "ENSEMBL:ENSG00000114771", "HGNC:17", "OMIM:600338", "UMLS:C1412051", "UniProtKB:P22760", "PR:P22760", "ENSEMBL:ENSP00000232892", "ENSEMBL:ENSP00000232892.6", "UMLS:C3252669", "MESH:C569302"], "information_content": 100.0}
{"id": "NCBIGene:10289", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF1B", "equivalent_identifiers": ["NCBIGene:10289", "ENSEMBL:ENSG00000114784", "HGNC:30792", "UMLS:C1825043", "UniProtKB:O60739", "PR:O60739", "ENSEMBL:ENSP00000232905", "ENSEMBL:ENSP00000232905.3", "UMLS:C3890607", "UniProtKB:Q6FG85"], "information_content": 89.4}
{"id": "MONDO:0006486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uveal melanoma", "equivalent_identifiers": ["MONDO:0006486", "DOID:6039", "OMIM:155720", "orphanet:39044", "EFO:1000616", "UMLS:C0220633", "MESH:C536494", "MESH:D000098943", "MEDDRA:10022797", "MEDDRA:10061252", "MEDDRA:10081431", "NCIT:C7712", "medgen:65077", "HP:0007716"], "information_content": 71.9}
{"id": "NCBIGene:7134", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNNC1", "equivalent_identifiers": ["NCBIGene:7134", "ENSEMBL:ENSG00000114854", "HGNC:11943", "OMIM:191040", "UMLS:C1420822", "UniProtKB:P63316", "PR:P63316", "ENSEMBL:ENSP00000232975", "ENSEMBL:ENSP00000232975.3", "UniProtKB:Q6FH91"], "information_content": 95.4}
{"id": "NCBIGene:4820", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKTR", "equivalent_identifiers": ["NCBIGene:4820", "ENSEMBL:ENSG00000114857", "HGNC:7833", "OMIM:161565", "UMLS:C0812448", "UniProtKB:P30414", "PR:P30414", "ENSEMBL:ENSP00000232978", "ENSEMBL:ENSP00000232978.8", "UMLS:C0217511", "UMLS:C1447226", "MESH:C081849"], "information_content": 92.8}
{"id": "MONDO:0001225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "opioid abuse", "equivalent_identifiers": ["MONDO:0001225", "DOID:11206", "UMLS:C0029095", "UMLS:C2874460", "UMLS:C2874461", "UMLS:C2874467", "UMLS:C2874468", "UMLS:C2874469", "UMLS:C3647215", "UMLS:C4237237", "UMLS:C4237242", "UMLS:C4237245", "UMLS:C4237251", "UMLS:C4268215", "UMLS:C4509038", "UMLS:C4509039", "UMLS:C4536271", "MEDDRA:10030887", "SNOMEDCT:5602001", "medgen:508001", "ICD10:F11.1", "ICD9:305.5"], "information_content": 100.0}
{"id": "MONDO:0000653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "integumentary system cancer", "equivalent_identifiers": ["MONDO:0000653", "DOID:0060122"], "information_content": 65.2}
{"id": "NCBIGene:28972", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPCS1", "equivalent_identifiers": ["NCBIGene:28972", "ENSEMBL:ENSG00000114902", "HGNC:23401", "OMIM:610358", "UMLS:C1539816", "UniProtKB:A0A5F9YFS9", "ENSEMBL:ENSP00000478310", "ENSEMBL:ENSP00000478310.2", "UniProtKB:Q9Y6A9", "PR:Q9Y6A9", "ENSEMBL:ENSP00000233025", "ENSEMBL:ENSP00000233025.7", "UMLS:C3849660", "MESH:C000590229"], "information_content": 92.8}
{"id": "MONDO:0011094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1C", "equivalent_identifiers": ["MONDO:0011094", "DOID:0110423", "DOID:0110452", "OMIM:601493", "UMLS:C1832244", "UMLS:C3152137", "UMLS:C4225414", "MESH:C563307", "NCIT:C170436", "medgen:316944", "ICD10:I42.0"], "information_content": 100.0}
{"id": "UniProtKB:P51957-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Nek4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51957-1", "PR:P51957-1", "ENSEMBL:ENSP00000233027", "ENSEMBL:ENSP00000233027.5"], "information_content": 100.0}
{"id": "NCBIGene:57590", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDFY1", "equivalent_identifiers": ["NCBIGene:57590", "ENSEMBL:ENSG00000085449", "HGNC:20451", "OMIM:618080", "UMLS:C1426945", "UniProtKB:Q8IWB7", "PR:Q8IWB7", "ENSEMBL:ENSP00000233055", "ENSEMBL:ENSP00000233055.4", "UMLS:C4077226", "MESH:C000603634", "UniProtKB:Q9H8N9"], "information_content": 95.4}
{"id": "UniProtKB:P19525-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon-induced, double-stranded RNA-activated protein kinase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P19525-1", "PR:P19525-1", "ENSEMBL:ENSP00000233057", "ENSEMBL:ENSP00000233057.4", "ENSEMBL:ENSP00000378559", "ENSEMBL:ENSP00000378559.2", "ENSEMBL:ENSP00000497534", "ENSEMBL:ENSP00000497534.1", "ENSEMBL:ENSP00000505138", "ENSEMBL:ENSP00000505138.1", "ENSEMBL:ENSP00000505772", "ENSEMBL:ENSP00000505772.1", "ENSEMBL:ENSP00000506024", "ENSEMBL:ENSP00000506024.1"], "information_content": 100.0}
{"id": "MONDO:0005913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phlebotomus fever", "equivalent_identifiers": ["MONDO:0005913", "DOID:11360", "EFO:0007437", "UMLS:C0030372", "MESH:D010217", "MEDDRA:10034905", "MEDDRA:10080469", "SNOMEDCT:407476002", "medgen:14597", "ICD10:A93.1", "ICD9:066.0"], "information_content": 100.0}
{"id": "UniProtKB:Q96EP5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DAZ-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EP5-1", "PR:Q96EP5-1", "ENSEMBL:ENSP00000233078", "ENSEMBL:ENSP00000233078.4"], "information_content": 100.0}
{"id": "MONDO:0002790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seminal vesicle tumor", "equivalent_identifiers": ["MONDO:0002790", "DOID:3855", "UMLS:C0341767", "NCIT:C39908", "SNOMEDCT:236740006", "medgen:90967"], "information_content": 82.1}
{"id": "UniProtKB:Q9P2D3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HEAT repeat-containing protein 5B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2D3-1", "PR:Q9P2D3-1", "ENSEMBL:ENSP00000233099", "ENSEMBL:ENSP00000233099.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPY8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-associated protein RP/EB family member 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPY8-1", "PR:Q9UPY8-1", "ENSEMBL:ENSP00000233121", "ENSEMBL:ENSP00000233121.2"], "information_content": 100.0}
{"id": "NCBIGene:9168", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMSB10", "equivalent_identifiers": ["NCBIGene:9168", "ENSEMBL:ENSG00000034510", "HGNC:11879", "OMIM:188399", "UMLS:C1420786", "UniProtKB:P63313", "PR:P63313", "ENSEMBL:ENSP00000233143", "ENSEMBL:ENSP00000233143.4"], "information_content": 78.3}
{"id": "UniProtKB:P43246-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA mismatch repair protein Msh2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43246-1", "PR:P43246-1", "ENSEMBL:ENSP00000233146", "ENSEMBL:ENSP00000233146.2"], "information_content": 100.0}
{"id": "NCBIGene:8440", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCK2", "equivalent_identifiers": ["NCBIGene:8440", "ENSEMBL:ENSG00000071051", "HGNC:7665", "OMIM:604930", "UMLS:C1334864", "UniProtKB:A0A0S2Z4M6", "UniProtKB:E7ERP6", "ENSEMBL:ENSP00000410428", "ENSEMBL:ENSP00000410428.2", "ENSEMBL:ENSP00000431109", "ENSEMBL:ENSP00000431109.1", "UniProtKB:O43639", "PR:O43639", "ENSEMBL:ENSP00000233154", "ENSEMBL:ENSP00000233154.4", "ENSEMBL:ENSP00000377018", "ENSEMBL:ENSP00000377018.2", "UMLS:C1334865", "MESH:C485544"], "information_content": 81.7}
{"id": "UniProtKB:P10646-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tissue factor pathway inhibitor isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:P10646-1", "PR:P10646-1", "ENSEMBL:ENSP00000233156", "ENSEMBL:ENSP00000233156.3", "ENSEMBL:ENSP00000376172", "ENSEMBL:ENSP00000376172.1"], "information_content": 100.0}
{"id": "UniProtKB:P49279-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "natural resistance-associated macrophage protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49279-1", "PR:P49279-1", "ENSEMBL:ENSP00000233202", "ENSEMBL:ENSP00000233202.6"], "information_content": 100.0}
{"id": "NCBIGene:338", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOB", "equivalent_identifiers": ["NCBIGene:338", "ENSEMBL:ENSG00000084674", "HGNC:603", "OMIM:107730", "UMLS:C1412471", "UniProtKB:A0AAG2UUW0", "ENSEMBL:ENSP00000517053", "ENSEMBL:ENSP00000517053.1", "UniProtKB:P04114", "PR:P04114", "ENSEMBL:ENSP00000233242", "ENSEMBL:ENSP00000233242.1", "UMLS:C3252643", "MESH:C569471", "UniProtKB:Q59HB3", "UniProtKB:Q7Z7Q0"], "information_content": 71.0}
{"id": "MONDO:0012031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 10", "equivalent_identifiers": ["MONDO:0012031", "DOID:0111046", "OMIM:608404", "UMLS:C1842090", "MESH:C564245", "medgen:374856"], "information_content": 100.0}
{"id": "NCBIGene:83444", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INO80B", "equivalent_identifiers": ["NCBIGene:83444", "ENSEMBL:ENSG00000115274", "HGNC:13324", "OMIM:616456", "UMLS:C1824078", "UniProtKB:Q9C086", "PR:Q9C086", "ENSEMBL:ENSP00000233331", "ENSEMBL:ENSP00000233331.7", "UMLS:C1530499", "MESH:C494434"], "information_content": 100.0}
{"id": "MONDO:0002027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "avoidant personality disorder", "equivalent_identifiers": ["MONDO:0002027", "DOID:1509", "UMLS:C0004444", "UMLS:C0494415", "MEDDRA:10003864", "MEDDRA:10003865", "NCIT:C92636", "SNOMEDCT:231528008", "SNOMEDCT:37746008", "medgen:13985", "icd11.foundation:429615620", "ICD10:F60.6", "ICD9:301.82"], "information_content": 100.0}
{"id": "NCBIGene:150465", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTL", "equivalent_identifiers": ["NCBIGene:150465", "ENSEMBL:ENSG00000114999", "HGNC:21586", "OMIM:608291", "UMLS:C1427631", "UniProtKB:Q8NG68", "PR:Q8NG68", "ENSEMBL:ENSP00000233336", "ENSEMBL:ENSP00000233336.5", "UMLS:C5441608"], "information_content": 95.4}
{"id": "NCBIGene:51011", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAHD2A", "equivalent_identifiers": ["NCBIGene:51011", "ENSEMBL:ENSG00000115042", "HGNC:24252", "UMLS:C1539385", "UniProtKB:Q96GK7", "PR:Q96GK7", "ENSEMBL:ENSP00000233379", "ENSEMBL:ENSP00000233379.4", "ENSEMBL:ENSP00000406424", "ENSEMBL:ENSP00000406424.1", "ENSEMBL:ENSP00000517824", "ENSEMBL:ENSP00000517824.1", "ENSEMBL:ENSP00000517826", "ENSEMBL:ENSP00000517826.1"], "information_content": 100.0}
{"id": "MONDO:0032874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary dyskinesia, primary, 43", "equivalent_identifiers": ["MONDO:0032874", "DOID:0111856", "OMIM:618699", "UMLS:C5231466", "medgen:1684675"], "information_content": 100.0}
{"id": "MONDO:0010753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac valvular dysplasia, X-linked", "equivalent_identifiers": ["MONDO:0010753", "DOID:0111765", "OMIM:314400", "orphanet:555877", "UMLS:C0262436", "UMLS:C4273726", "MESH:C535576", "NCIT:C173469", "SNOMEDCT:1186709006", "SNOMEDCT:718128009", "medgen:78083"], "information_content": 100.0}
{"id": "NCBIGene:51639", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SF3B6", "equivalent_identifiers": ["NCBIGene:51639", "ENSEMBL:ENSG00000115128", "HGNC:30096", "OMIM:607835", "UMLS:C1842980", "UniProtKB:Q9Y3B4", "PR:Q9Y3B4", "ENSEMBL:ENSP00000233468", "ENSEMBL:ENSP00000233468.4"], "information_content": 95.4}
{"id": "NCBIGene:7781", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC30A3", "equivalent_identifiers": ["NCBIGene:7781", "ENSEMBL:ENSG00000115194", "HGNC:11014", "OMIM:602878", "UMLS:C1420180", "UniProtKB:B4DXX8", "UMLS:C1447468", "MESH:C102806", "UniProtKB:Q99726", "PR:Q99726", "ENSEMBL:ENSP00000233535", "ENSEMBL:ENSP00000233535.4"], "information_content": 95.4}
{"id": "MONDO:0008713", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrodermatitis enteropathica", "equivalent_identifiers": ["MONDO:0008713", "DOID:0050605", "OMIM:201100", "orphanet:37", "UMLS:C0221036", "MESH:C538178", "MEDDRA:10000596", "MEDDRA:10014903", "NCIT:C128802", "SNOMEDCT:37702000", "medgen:66355", "icd11.foundation:1813939482"], "information_content": 100.0}
{"id": "MONDO:0008495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet storage pool deficiency", "equivalent_identifiers": ["MONDO:0008495", "DOID:2223", "OMIM:185050", "orphanet:734", "EFO:1001112", "UMLS:C0032197", "MESH:D010981", "MEDDRA:10084190", "SNOMEDCT:128099001", "SNOMEDCT:234474009", "SNOMEDCT:9417000", "medgen:19351"], "information_content": 100.0}
{"id": "UniProtKB:Q15036-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-17 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15036-1", "PR:Q15036-1", "ENSEMBL:ENSP00000233575", "ENSEMBL:ENSP00000233575.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96HR9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor expression-enhancing protein 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96HR9-2", "PR:Q96HR9-2", "ENSEMBL:ENSP00000233596", "ENSEMBL:ENSP00000233596.2"], "information_content": 100.0}
{"id": "MONDO:0012237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 6", "equivalent_identifiers": ["MONDO:0012237", "DOID:0110935", "OMIM:609273", "UMLS:C1836472", "MESH:C538398", "medgen:373095"], "information_content": 100.0}
{"id": "UniProtKB:O75251-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75251-1", "PR:O75251-1", "ENSEMBL:ENSP00000233627", "ENSEMBL:ENSP00000233627.9"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSM1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Polycomb group RING finger protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSM1-1", "PR:Q9BSM1-1", "ENSEMBL:ENSP00000233630", "ENSEMBL:ENSP00000233630.6"], "information_content": 100.0}
{"id": "MONDO:0026727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shukla-Vernon syndrome", "equivalent_identifiers": ["MONDO:0026727", "DOID:0111841", "OMIM:301029", "EFO:0010278", "UMLS:C5193146", "medgen:1674076"], "information_content": 100.0}
{"id": "NCBIGene:3196", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLX2", "equivalent_identifiers": ["NCBIGene:3196", "ENSEMBL:ENSG00000115297", "HGNC:5057", "OMIM:604240", "UMLS:C1415651", "UniProtKB:O43763", "PR:O43763", "ENSEMBL:ENSP00000233638", "ENSEMBL:ENSP00000233638.6", "UMLS:C1452717", "MESH:C491534"], "information_content": 95.4}
{"id": "UniProtKB:Q99704-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "docking protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99704-1", "PR:Q99704-1", "ENSEMBL:ENSP00000233668", "ENSEMBL:ENSP00000233668.5"], "information_content": 100.0}
{"id": "NCBIGene:33", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACADL", "equivalent_identifiers": ["NCBIGene:33", "ENSEMBL:ENSG00000115361", "HGNC:88", "OMIM:609576", "UMLS:C1439272", "UniProtKB:P28330", "PR:P28330", "ENSEMBL:ENSP00000233710", "ENSEMBL:ENSP00000233710.3", "UMLS:C5780725"], "information_content": 95.4}
{"id": "NCBIGene:5967", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "REG1A", "equivalent_identifiers": ["NCBIGene:5967", "ENSEMBL:ENSG00000115386", "HGNC:9951", "OMIM:167770", "UMLS:C1419333", "UniProtKB:A8K7G6", "UniProtKB:P05451", "PR:P05451", "ENSEMBL:ENSP00000233735", "ENSEMBL:ENSP00000233735.1", "UMLS:C0208940", "MESH:C497617"], "information_content": 84.2}
{"id": "NCBIGene:3485", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGFBP2", "equivalent_identifiers": ["NCBIGene:3485", "ENSEMBL:ENSG00000115457", "HGNC:5471", "OMIM:146731", "UMLS:C1334093", "UniProtKB:C9JMY1", "ENSEMBL:ENSP00000389646", "ENSEMBL:ENSP00000389646.1", "UniProtKB:P18065", "PR:P18065", "ENSEMBL:ENSP00000233809", "ENSEMBL:ENSP00000233809.4", "UMLS:C4082566", "MESH:C577903"], "information_content": 89.4}
{"id": "MONDO:0014294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 15q11.2 deletion syndrome", "equivalent_identifiers": ["MONDO:0014294", "DOID:0060393", "OMIM:615656", "orphanet:261183", "UMLS:C3180937", "medgen:467404"], "information_content": 100.0}
{"id": "MONDO:0001552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyscalculia", "equivalent_identifiers": ["MONDO:0001552", "DOID:12568", "UMLS:C0869474", "UMLS:C1411876", "UMLS:C4280576", "MESH:D060705", "MEDDRA:10012555", "MEDDRA:10041425", "MEDDRA:10049669", "NCIT:C97165", "SNOMEDCT:47916000", "SNOMEDCT:55640002", "medgen:452779", "icd11.foundation:308101648", "HP:0002442"], "information_content": 100.0}
{"id": "MONDO:0009877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Laron syndrome", "equivalent_identifiers": ["MONDO:0009877", "DOID:9521", "OMIM:262500", "orphanet:633", "UMLS:C0271568", "MESH:D046150", "MEDDRA:10075492", "MEDDRA:10082851", "NCIT:C130994", "SNOMEDCT:38196001", "medgen:78776", "ICD10:E34.321"], "information_content": 100.0}
{"id": "MONDO:0012915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1q21.1 duplication syndrome", "equivalent_identifiers": ["MONDO:0012915", "DOID:0060435", "OMIM:612475", "orphanet:250994", "UMLS:C2675891", "MESH:C567290", "medgen:382715"], "information_content": 100.0}
{"id": "MONDO:0012774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 15q13.3 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0012774", "DOID:0060394", "OMIM:612001", "orphanet:199318", "UMLS:C2677613", "MESH:C567439", "MEDDRA:10090652", "SNOMEDCT:699254009", "medgen:393784"], "information_content": 100.0}
{"id": "NCBIGene:3488", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGFBP5", "equivalent_identifiers": ["NCBIGene:3488", "ENSEMBL:ENSG00000115461", "HGNC:5474", "OMIM:146734", "UMLS:C1334096", "UniProtKB:P24593", "PR:P24593", "ENSEMBL:ENSP00000233813", "ENSEMBL:ENSP00000233813.4", "UMLS:C4082568", "MESH:C000627665"], "information_content": 89.4}
{"id": "MONDO:0017398", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3MC syndrome", "equivalent_identifiers": ["MONDO:0017398", "DOID:0060225", "OMIM.PS:257920", "orphanet:293843", "UMLS:C4303860", "SNOMEDCT:720756005", "medgen:929529", "icd11.foundation:1294329406"], "information_content": 90.9}
{"id": "UniProtKB:O60928-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inward rectifier potassium channel 13 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60928-1", "PR:O60928-1", "ENSEMBL:ENSP00000233826", "ENSEMBL:ENSP00000233826.3", "ENSEMBL:ENSP00000386251", "ENSEMBL:ENSP00000386251.1"], "information_content": 100.0}
{"id": "MONDO:0008663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "snowflake vitreoretinal degeneration", "equivalent_identifiers": ["MONDO:0008663", "DOID:0111570", "OMIM:193230", "orphanet:91496", "UMLS:C1860405", "MESH:C536677", "medgen:395476", "icd11.foundation:282570444", "HP:0011533"], "information_content": 100.0}
{"id": "MONDO:0001377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitreous syneresis", "equivalent_identifiers": ["MONDO:0001377", "DOID:11816", "UMLS:C0155366", "MEDDRA:10047649", "MEDDRA:10057367", "SNOMEDCT:247090008", "SNOMEDCT:60189009", "medgen:509938", "ICD10:H43.81", "ICD9:379.21"], "information_content": 76.4}
{"id": "UniProtKB:P38435-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vitamin K-dependent gamma-carboxylase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P38435-1", "PR:P38435-1", "ENSEMBL:ENSP00000233838", "ENSEMBL:ENSP00000233838.3"], "information_content": 100.0}
{"id": "MONDO:0014182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 88", "equivalent_identifiers": ["MONDO:0014182", "DOID:0110533", "OMIM:615429", "UMLS:C2829267", "medgen:811084"], "information_content": 100.0}
{"id": "MONDO:0013361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital prothrombin deficiency", "equivalent_identifiers": ["MONDO:0013361", "DOID:2235", "OMIM:613679", "orphanet:325", "UMLS:C0272317", "UMLS:C3203356", "MESH:C562724", "MESH:D007020", "MEDDRA:10016076", "MEDDRA:10021085", "MEDDRA:10037045", "MEDDRA:10054431", "NCIT:C131737", "NCIT:C26799", "SNOMEDCT:33297000", "SNOMEDCT:73975000", "medgen:124425"], "information_content": 90.9}
{"id": "MONDO:0014303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 64", "equivalent_identifiers": ["MONDO:0014303", "DOID:0110815", "OMIM:615683", "orphanet:401810", "UMLS:C3810289", "SNOMEDCT:726609005", "medgen:816619"], "information_content": 100.0}
{"id": "MONDO:0012502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "normophosphatemic familial tumoral calcinosis", "equivalent_identifiers": ["MONDO:0012502", "DOID:0080170", "OMIM:610455", "orphanet:306658", "UMLS:C1864861", "MESH:C566473", "SNOMEDCT:1162852008", "medgen:355311"], "information_content": 100.0}
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{"id": "MONDO:0011758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hurler syndrome", "equivalent_identifiers": ["MONDO:0011758", "DOID:0111390", "OMIM:607014", "orphanet:93473", "UMLS:C0086795", "UMLS:C5848292", "MEDDRA:10020470", "MEDDRA:10020471", "MEDDRA:10028048", "NCIT:C61261", "SNOMEDCT:254069004", "SNOMEDCT:65327002", "medgen:39698", "ICD10:E76.01", "HP:0000943"], "information_content": 100.0}
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{"id": "MONDO:0000332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sennetsu fever", "equivalent_identifiers": ["MONDO:0000332", "DOID:0050485", "UMLS:C0520779", "MESH:C537582", "SNOMEDCT:21013006", "medgen:105459"], "information_content": 100.0}
{"id": "MONDO:0018984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oroya fever", "equivalent_identifiers": ["MONDO:0018984", "DOID:0050398", "orphanet:64692", "orphanet:659756", "UMLS:C0029307", "UMLS:C4552012", "NCIT:C128441", "SNOMEDCT:240453002", "SNOMEDCT:262461007", "medgen:45234", "icd11.foundation:1031219789"], "information_content": 95.4}
{"id": "NCBIGene:7475", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT6", "equivalent_identifiers": ["NCBIGene:7475", "ENSEMBL:ENSG00000115596", "HGNC:12785", "OMIM:604663", "UMLS:C1421516", "UniProtKB:Q8N2E5", "UniProtKB:Q9Y6F9", "PR:Q9Y6F9", "ENSEMBL:ENSP00000233948", "ENSEMBL:ENSP00000233948.3", "UMLS:C1454574", "MESH:C490674"], "information_content": 90.9}
{"id": "UniProtKB:Q01638-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-1 receptor-like 1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q01638-1", "PR:Q01638-1", "ENSEMBL:ENSP00000233954", "ENSEMBL:ENSP00000233954.1"], "information_content": 100.0}
{"id": "NCBIGene:6549", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC9A2", "equivalent_identifiers": ["NCBIGene:6549", "ENSEMBL:ENSG00000115616", "HGNC:11072", "OMIM:600530", "UMLS:C1420233", "UniProtKB:Q9UBY0", "PR:Q9UBY0", "ENSEMBL:ENSP00000233969", "ENSEMBL:ENSP00000233969.2", "UMLS:C1664709", "MESH:C081517"], "information_content": 95.4}
{"id": "MONDO:0006977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatocele", "equivalent_identifiers": ["MONDO:0006977", "DOID:11997", "EFO:1001189", "UMLS:C0037859", "UMLS:C5442141", "MESH:D013088", "MEDDRA:10014994", "MEDDRA:10041490", "NCIT:C120909", "NCIT:C3865", "SNOMEDCT:43077002", "SNOMEDCT:49263001", "medgen:20857", "icd11.foundation:1907004531", "ICD10:N43.4", "ICD9:608.1", "HP:0030424"], "information_content": 100.0}
{"id": "NCBIGene:566", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AZU1", "equivalent_identifiers": ["NCBIGene:566", "ENSEMBL:ENSG00000172232", "HGNC:913", "OMIM:162815", "UMLS:C1332127", "UniProtKB:P20160", "PR:P20160", "ENSEMBL:ENSP00000233997", "ENSEMBL:ENSP00000233997.1", "ENSEMBL:ENSP00000479183", "ENSEMBL:ENSP00000479183.1", "UMLS:C0054878", "MESH:C062991"], "information_content": 87.2}
{"id": "MONDO:0011783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALG12-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011783", "DOID:0080559", "OMIM:607143", "orphanet:79324", "UMLS:C2931001", "MESH:C535745", "NCIT:C126873", "SNOMEDCT:711155008", "medgen:443954"], "information_content": 100.0}
{"id": "UniProtKB:Q15435-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1 regulatory subunit 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15435-1", "PR:Q15435-1", "ENSEMBL:ENSP00000234038", "ENSEMBL:ENSP00000234038.6", "ENSEMBL:ENSP00000385657", "ENSEMBL:ENSP00000385657.1"], "information_content": 100.0}
{"id": "MONDO:0010886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2q37 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0010886", "DOID:0111704", "OMIM:600430", "orphanet:1001", "UMLS:C2931817", "MESH:C538317", "NCIT:C129021", "SNOMEDCT:702357000", "medgen:419169"], "information_content": 100.0}
{"id": "UniProtKB:P04070-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vitamin K-dependent protein C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P04070-1", "PR:P04070-1", "ENSEMBL:ENSP00000234071", "ENSEMBL:ENSP00000234071.4"], "information_content": 100.0}
{"id": "MONDO:0000809", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "purpura fulminans", "equivalent_identifiers": ["MONDO:0000809", "DOID:0060538", "EFO:1001913", "UMLS:C0085650", "UMLS:C0311369", "MESH:D055665", "MEDDRA:10037556", "SNOMEDCT:13507004", "medgen:88448", "icd11.foundation:1293848111", "ICD10:D65"], "information_content": 95.4}
{"id": "NCBIGene:3398", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ID2", "equivalent_identifiers": ["NCBIGene:3398", "ENSEMBL:ENSG00000115738", "HGNC:5361", "OMIM:600386", "UMLS:C1334077", "UniProtKB:Q02363", "PR:Q02363", "ENSEMBL:ENSP00000234091", "ENSEMBL:ENSP00000234091.4", "ENSEMBL:ENSP00000379585", "ENSEMBL:ENSP00000379585.1", "ENSEMBL:ENSP00000385465", "ENSEMBL:ENSP00000385465.2", "UMLS:C0123156", "MESH:C497450", "UniProtKB:Q53T66"], "information_content": 88.2}
{"id": "MONDO:0012589", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pitt-Hopkins syndrome", "equivalent_identifiers": ["MONDO:0012589", "DOID:0060488", "OMIM:610954", "orphanet:2896", "UMLS:C1970431", "MESH:C537403", "NCIT:C129872", "SNOMEDCT:702344008", "medgen:370910", "icd11.foundation:2040786134"], "information_content": 100.0}
{"id": "NCBIGene:4953", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ODC1", "equivalent_identifiers": ["NCBIGene:4953", "ENSEMBL:ENSG00000115758", "HGNC:8109", "OMIM:165640", "UMLS:C1417932", "UniProtKB:B4DXF8", "UniProtKB:P11926", "PR:P11926", "ENSEMBL:ENSP00000234111", "ENSEMBL:ENSP00000234111.4", "ENSEMBL:ENSP00000385333", "ENSEMBL:ENSP00000385333.1", "ENSEMBL:ENSP00000390691", "ENSEMBL:ENSP00000390691.2", "ENSEMBL:ENSP00000514633", "ENSEMBL:ENSP00000514633.1", "ENSEMBL:ENSP00000514634", "ENSEMBL:ENSP00000514634.1", "UMLS:C5196759", "MESH:C000630025"], "information_content": 83.6}
{"id": "UniProtKB:Q9H8Y8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi reassembly-stacking protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8Y8-1", "PR:Q9H8Y8-1", "ENSEMBL:ENSP00000234160", "ENSEMBL:ENSP00000234160.4"], "information_content": 100.0}
{"id": "NCBIGene:10153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEBPZ", "equivalent_identifiers": ["NCBIGene:10153", "ENSEMBL:ENSG00000115816", "HGNC:24218", "OMIM:612828", "UMLS:C1428360", "UniProtKB:Q03701", "PR:Q03701", "ENSEMBL:ENSP00000234170", "ENSEMBL:ENSP00000234170.5", "UMLS:C3178209", "MESH:C560326"], "information_content": 95.4}
{"id": "NCBIGene:151393", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RMDN2", "equivalent_identifiers": ["NCBIGene:151393", "ENSEMBL:ENSG00000115841", "HGNC:26567", "OMIM:611872", "UMLS:C1825158", "UniProtKB:A0A0C4DFM4", "ENSEMBL:ENSP00000234195", "ENSEMBL:ENSP00000234195.3", "UniProtKB:Q96LZ7", "PR:Q96LZ7"]}
{"id": "UniProtKB:Q07687-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein DLX-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q07687-1", "PR:Q07687-1", "ENSEMBL:ENSP00000234198", "ENSEMBL:ENSP00000234198.4"], "information_content": 100.0}
{"id": "MONDO:0013557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 5", "equivalent_identifiers": ["MONDO:0013557", "DOID:0060543", "OMIM:614074", "UMLS:C3888004", "medgen:854711"], "information_content": 100.0}
{"id": "UniProtKB:P43007-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neutral amino acid transporter A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P43007-1", "PR:P43007-1", "ENSEMBL:ENSP00000234256", "ENSEMBL:ENSP00000234256.3"], "information_content": 100.0}
{"id": "NCBIGene:4999", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ORC2", "equivalent_identifiers": ["NCBIGene:4999", "ENSEMBL:ENSG00000115942", "HGNC:8488", "OMIM:601182", "UMLS:C1335084", "UniProtKB:Q13416", "PR:Q13416", "ENSEMBL:ENSP00000234296", "ENSEMBL:ENSP00000234296.2", "UMLS:C1335135", "MESH:C497224"], "information_content": 92.8}
{"id": "MONDO:0009214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group D2", "equivalent_identifiers": ["MONDO:0009214", "DOID:0111083", "OMIM:227646", "UMLS:C3160738", "NCIT:C125706", "medgen:463627"], "information_content": 92.8}
{"id": "MONDO:0009451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thymic aplasia", "equivalent_identifiers": ["MONDO:0009451", "DOID:2012", "OMIM:242700", "orphanet:83471", "UMLS:C0152094", "UMLS:C0685894", "UMLS:C1744558", "UMLS:C4531018", "MESH:C536288", "MEDDRA:10029397", "MEDDRA:10043662", "MEDDRA:10048801", "SNOMEDCT:1003550007", "SNOMEDCT:398055000", "SNOMEDCT:55602000", "SNOMEDCT:702623002", "SNOMEDCT:91918005", "medgen:101814", "icd11.foundation:215376282", "ICD10:D81.4", "ICD9:279.13", "HP:0005359"], "information_content": 100.0}
{"id": "NCBIGene:5534", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP3R1", "equivalent_identifiers": ["NCBIGene:5534", "ENSEMBL:ENSG00000221823", "HGNC:9317", "OMIM:601302", "UMLS:C1418848", "UniProtKB:P63098", "PR:P63098", "ENSEMBL:ENSP00000234310", "ENSEMBL:ENSP00000234310.3", "UMLS:C1511479", "MESH:C525676"], "information_content": 89.4}
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{"id": "NCBIGene:5657", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRTN3", "equivalent_identifiers": ["NCBIGene:5657", "ENSEMBL:ENSG00000196415", "HGNC:9495", "OMIM:177020", "UMLS:C1335267", "UniProtKB:P24158", "PR:P24158", "ENSEMBL:ENSP00000234347", "ENSEMBL:ENSP00000234347.3", "ENSEMBL:ENSP00000478977", "ENSEMBL:ENSP00000478977.1", "UMLS:C1706063"], "information_content": 88.2}
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{"id": "MONDO:0002570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "high pressure neurological syndrome", "equivalent_identifiers": ["MONDO:0002570", "DOID:3230", "UMLS:C0019537", "MESH:D006610", "medgen:5553"], "information_content": 95.4}
{"id": "NCBIGene:25806", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VAX2", "equivalent_identifiers": ["NCBIGene:25806", "ENSEMBL:ENSG00000116035", "HGNC:12661", "OMIM:604295", "UMLS:C1421433", "UniProtKB:F1T0K5", "UMLS:C1452340", "MESH:C492362", "UniProtKB:Q9UIW0", "PR:Q9UIW0", "ENSEMBL:ENSP00000234392", "ENSEMBL:ENSP00000234392.2"], "information_content": 100.0}
{"id": "MONDO:0014320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bosch-Boonstra-Schaaf optic atrophy syndrome", "equivalent_identifiers": ["MONDO:0014320", "DOID:0112226", "OMIM:615722", "orphanet:401777", "UMLS:C3810363", "MEDDRA:10083269", "SNOMEDCT:770723007", "medgen:816693"], "information_content": 100.0}
{"id": "MONDO:0012275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal valproate syndrome", "equivalent_identifiers": ["MONDO:0012275", "DOID:0060471", "OMIM:609442", "orphanet:1906", "UMLS:C0236026", "UMLS:C1876218", "MESH:C536525", "MEDDRA:10016524", "MEDDRA:10016870", "MEDDRA:10091151", "MEDDRA:10091152", "NCIT:C98930", "SNOMEDCT:17231009", "medgen:65922", "icd11.foundation:1055155432"], "information_content": 100.0}
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{"id": "MONDO:0015231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartter disease", "equivalent_identifiers": ["MONDO:0015231", "DOID:445", "OMIM.PS:601678", "orphanet:112", "UMLS:C0004775", "MESH:D001477", "MEDDRA:10050839", "NCIT:C34412", "SNOMEDCT:707742001", "medgen:2172", "icd11.foundation:777233947", "ICD10:E26.81", "ICD9:255.13"], "information_content": 85.5}
{"id": "MONDO:0018638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoaldosteronism", "equivalent_identifiers": ["MONDO:0018638", "DOID:0060854", "DOID:4479", "orphanet:444916", "UMLS:C0033805", "MESH:D011546", "MEDDRA:10080593", "NCIT:C85034", "SNOMEDCT:77098009", "medgen:18721", "HP:0008242"], "information_content": 82.6}
{"id": "MONDO:0009904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gitelman syndrome", "equivalent_identifiers": ["MONDO:0009904", "DOID:0050450", "OMIM:263800", "orphanet:358", "UMLS:C0268450", "MESH:D053579", "MEDDRA:10062906", "NCIT:C84730", "SNOMEDCT:707756004", "medgen:75681"], "information_content": 100.0}
{"id": "MONDO:0008323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Liddle syndrome", "equivalent_identifiers": ["MONDO:0008323", "DOID:0050477", "OMIM.PS:177200", "orphanet:526", "UMLS:C0221043", "MESH:D056929", "MEDDRA:10037105", "MEDDRA:10037113", "MEDDRA:10052313", "MEDDRA:10084243", "NCIT:C84827", "SNOMEDCT:707747007", "medgen:67439"], "information_content": 90.9}
{"id": "MONDO:0009016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "band keratopathy", "equivalent_identifiers": ["MONDO:0009016", "DOID:11164", "OMIM:217500", "UMLS:C0155120", "MESH:C562399", "MEDDRA:10004086", "MEDDRA:10004088", "MEDDRA:10023366", "NCIT:C118765", "SNOMEDCT:35055000", "medgen:56354", "icd11.foundation:184627034", "ICD10:H18.42", "ICD9:371.43", "HP:0007709"], "information_content": 100.0}
{"id": "MONDO:0007844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "equivalent_identifiers": ["MONDO:0007844", "DOID:0090083", "OMIM:147950", "UMLS:C1563720", "medgen:289648"], "information_content": 100.0}
{"id": "UniProtKB:P52701-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA mismatch repair protein Msh6 isoform GTBP-N (human)", "equivalent_identifiers": ["UniProtKB:P52701-1", "PR:P52701-1", "ENSEMBL:ENSP00000234420", "ENSEMBL:ENSP00000234420.5"], "information_content": 100.0}
{"id": "NCBIGene:65977", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLEKHA3", "equivalent_identifiers": ["NCBIGene:65977", "ENSEMBL:ENSG00000116095", "HGNC:14338", "OMIM:607774", "UMLS:C1422575", "UniProtKB:Q9HB20", "PR:Q9HB20", "ENSEMBL:ENSP00000234453", "ENSEMBL:ENSP00000234453.4", "UMLS:C1452609", "MESH:C487037"], "information_content": 92.8}
{"id": "NCBIGene:6697", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPR", "equivalent_identifiers": ["NCBIGene:6697", "ENSEMBL:ENSG00000116096", "HGNC:11257", "OMIM:182125", "UMLS:C1420371", "UniProtKB:P35270", "PR:P35270", "ENSEMBL:ENSP00000234454", "ENSEMBL:ENSP00000234454.5"], "information_content": 95.4}
{"id": "UniProtKB:P51797-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H(+)/Cl(-) exchange transporter 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51797-1", "PR:P51797-1", "ENSEMBL:ENSP00000234488", "ENSEMBL:ENSP00000234488.9"], "information_content": 100.0}
{"id": "MONDO:0016691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spongioblastoma", "equivalent_identifiers": ["MONDO:0016691", "DOID:4851", "orphanet:251612", "UMLS:C0334583", "UMLS:C0334584", "NCIT:C4047", "SNOMEDCT:128854008", "SNOMEDCT:763865009", "medgen:87271", "HP:0033680"], "information_content": 82.1}
{"id": "MONDO:0016690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pleomorphic xanthoastrocytoma", "equivalent_identifiers": ["MONDO:0016690", "DOID:4852", "orphanet:251607", "UMLS:C0334586", "MEDDRA:10085351", "NCIT:C4323", "SNOMEDCT:189924002", "SNOMEDCT:78838008", "medgen:137786", "HP:0033682"], "information_content": 89.4}
{"id": "MONDO:0005505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysembryoplastic neuroepithelial tumor", "equivalent_identifiers": ["MONDO:0005505", "DOID:2679", "orphanet:251946", "EFO:0005551", "UMLS:C1266177", "MEDDRA:10072668", "MEDDRA:10072677", "NCIT:C9505", "SNOMEDCT:128788005", "SNOMEDCT:87211000119104", "medgen:266109", "HP:0033703"], "information_content": 92.8}
{"id": "MONDO:0016686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse astrocytoma", "equivalent_identifiers": ["MONDO:0016686", "DOID:4857", "orphanet:251595", "UMLS:C0280785", "NCIT:C129277", "NCIT:C7173", "SNOMEDCT:397381007", "medgen:83708"], "information_content": 78.3}
{"id": "MONDO:0858956", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse leptomeningeal glioneuronal tumor", "equivalent_identifiers": ["MONDO:0858956", "DOID:0081302", "UMLS:C4329735", "NCIT:C129424", "SNOMEDCT:733123006", "medgen:1391318"], "information_content": 95.4}
{"id": "MONDO:0016736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rosette-forming glioneuronal tumor of fourth ventricule", "equivalent_identifiers": ["MONDO:0016736", "DOID:0081284", "orphanet:251975", "UMLS:C2347979", "UMLS:C4331262", "NCIT:C129431", "NCIT:C67559", "SNOMEDCT:733906003", "SNOMEDCT:770682007", "medgen:1377578", "HP:0025171"], "information_content": 95.4}
{"id": "NCBIGene:1179", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLCA1", "equivalent_identifiers": ["NCBIGene:1179", "ENSEMBL:ENSG00000016490", "HGNC:2015", "OMIM:603906", "UMLS:C1413447", "UniProtKB:A8K7I4", "PR:A8K7I4", "ENSEMBL:ENSP00000234701", "ENSEMBL:ENSP00000234701.3", "ENSEMBL:ENSP00000378200", "ENSEMBL:ENSP00000378200.1", "UMLS:C1454985", "MESH:C492109"], "information_content": 95.4}
{"id": "MONDO:0012733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive bestrophinopathy", "equivalent_identifiers": ["MONDO:0012733", "DOID:0050662", "OMIM:611809", "orphanet:139455", "UMLS:C2678493", "UMLS:C3888198", "MESH:C567518", "SNOMEDCT:723828008", "medgen:854806"], "information_content": 100.0}
{"id": "MONDO:0000390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitelliform macular dystrophy", "equivalent_identifiers": ["MONDO:0000390", "DOID:0050661", "OMIM.PS:153840", "UMLS:C0339510", "UMLS:C4024817", "MESH:D057826", "MEDDRA:10074147", "NCIT:C118788", "SNOMEDCT:90036004", "medgen:137920", "HP:0007677"], "information_content": 87.2}
{"id": "MONDO:0008662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant vitreoretinochoroidopathy", "equivalent_identifiers": ["MONDO:0008662", "DOID:0111569", "OMIM:193220", "orphanet:3086", "UMLS:C3888099", "MESH:C536352", "SNOMEDCT:711162004", "medgen:854768", "icd11.foundation:96951767"], "information_content": 100.0}
{"id": "NCBIGene:607", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCL9", "equivalent_identifiers": ["NCBIGene:607", "ENSEMBL:ENSG00000116128", "HGNC:1008", "OMIM:602597", "UMLS:C1332402", "UniProtKB:O00512", "PR:O00512", "ENSEMBL:ENSP00000234739", "ENSEMBL:ENSP00000234739.3", "UMLS:C0672585", "MESH:C111180", "UniProtKB:Q1JQ81"], "information_content": 100.0}
{"id": "NCBIGene:25823", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPSG1", "equivalent_identifiers": ["NCBIGene:25823", "ENSEMBL:ENSG00000116176", "HGNC:14134", "OMIM:609341", "UMLS:C1422428", "UniProtKB:Q9NRR2", "PR:Q9NRR2", "ENSEMBL:ENSP00000234798", "ENSEMBL:ENSP00000234798.4"], "information_content": 100.0}
{"id": "MONDO:0004712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "herpes simplex dermatitis", "equivalent_identifiers": ["MONDO:0004712", "DOID:9123", "UMLS:C0022504", "UMLS:C0153037", "UMLS:C0854331", "UMLS:C0936250", "MESH:D007617", "MEDDRA:10014197", "MEDDRA:10019950", "MEDDRA:10019951", "MEDDRA:10051891", "NCIT:C35620", "SNOMEDCT:186535001", "SNOMEDCT:186544000", "medgen:163132", "ICD10:B00.0", "ICD9:054.0", "ICD9:054.41"], "information_content": 100.0}
{"id": "NCBIGene:9068", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANGPTL1", "equivalent_identifiers": ["NCBIGene:9068", "ENSEMBL:ENSG00000116194", "HGNC:489", "OMIM:603874", "UMLS:C1412399", "UniProtKB:O95841", "PR:O95841", "ENSEMBL:ENSP00000234816", "ENSEMBL:ENSP00000234816.2", "ENSEMBL:ENSP00000356601", "ENSEMBL:ENSP00000356601.1", "UMLS:C1384638", "MESH:C117578"], "information_content": 100.0}
{"id": "UniProtKB:Q96MN5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription elongation factor A N-terminal and central domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MN5-1", "PR:Q96MN5-1", "ENSEMBL:ENSP00000234827", "ENSEMBL:ENSP00000234827.1", "ENSEMBL:ENSP00000498109", "ENSEMBL:ENSP00000498109.1"], "information_content": 100.0}
{"id": "MONDO:0006966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secondary Parkinson disease", "equivalent_identifiers": ["MONDO:0006966", "DOID:13548", "EFO:1001175", "UMLS:C0030569", "MESH:D010302", "MEDDRA:10039872", "NCIT:C34899", "SNOMEDCT:230292008", "SNOMEDCT:265377002", "medgen:10592", "ICD10:G21", "ICD9:332.1"], "information_content": 95.4}
{"id": "NCBIGene:9528", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM59", "equivalent_identifiers": ["NCBIGene:9528", "ENSEMBL:ENSG00000116209", "HGNC:1239", "OMIM:617084", "UMLS:C1823321", "UniProtKB:Q5T6Z8", "ENSEMBL:ENSP00000360392", "ENSEMBL:ENSP00000360392.1", "ENSEMBL:ENSP00000360395", "ENSEMBL:ENSP00000360395.1", "ENSEMBL:ENSP00000360399", "ENSEMBL:ENSP00000360399.1", "UMLS:C4277363", "MESH:C000606148", "UniProtKB:Q5T703", "ENSEMBL:ENSP00000360388", "ENSEMBL:ENSP00000360388.3", "UniProtKB:Q9BXS4", "PR:Q9BXS4", "ENSEMBL:ENSP00000234831", "ENSEMBL:ENSP00000234831.5"], "information_content": 88.2}
{"id": "NCBIGene:4985", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OPRD1", "equivalent_identifiers": ["NCBIGene:4985", "ENSEMBL:ENSG00000116329", "HGNC:8153", "OMIM:165195", "UMLS:C1417962", "UniProtKB:P41143", "PR:P41143", "ENSEMBL:ENSP00000234961", "ENSEMBL:ENSP00000234961.2", "UMLS:C2354648"], "information_content": 95.4}
{"id": "MONDO:0005531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "morphine dependence", "equivalent_identifiers": ["MONDO:0005531", "DOID:2560", "EFO:0005612", "UMLS:C0026552", "MESH:D009021", "SNOMEDCT:231479000", "medgen:7706", "icd11.foundation:337142707"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methylosome protein WDR77 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQA1-1", "PR:Q9BQA1-1", "ENSEMBL:ENSP00000235090", "ENSEMBL:ENSP00000235090.5"], "information_content": 100.0}
{"id": "NCBIGene:81563", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1orf21", "equivalent_identifiers": ["NCBIGene:81563", "ENSEMBL:ENSG00000116667", "HGNC:15494", "UMLS:C1423530", "UniProtKB:Q9H246", "PR:Q9H246", "ENSEMBL:ENSP00000235307", "ENSEMBL:ENSP00000235307.6"], "information_content": 100.0}
{"id": "NCBIGene:10459", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAD2L2", "equivalent_identifiers": ["NCBIGene:10459", "ENSEMBL:ENSG00000116670", "HGNC:6764", "OMIM:604094", "UMLS:C1416960", "UniProtKB:Q9UI95", "PR:Q9UI95", "ENSEMBL:ENSP00000235310", "ENSEMBL:ENSP00000235310.2", "ENSEMBL:ENSP00000365855", "ENSEMBL:ENSP00000365855.3", "ENSEMBL:ENSP00000365882", "ENSEMBL:ENSP00000365882.4", "ENSEMBL:ENSP00000400982", "ENSEMBL:ENSP00000400982.2", "ENSEMBL:ENSP00000520633", "ENSEMBL:ENSP00000520633.1", "UMLS:C1438391", "MESH:C120552"], "information_content": 90.9}
{"id": "UniProtKB:Q5JXC2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "migration and invasion-inhibitory protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JXC2-1", "PR:Q5JXC2-1", "ENSEMBL:ENSP00000235332", "ENSEMBL:ENSP00000235332.4"], "information_content": 100.0}
{"id": "MONDO:0001514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urethrocele", "equivalent_identifiers": ["MONDO:0001514", "DOID:12369", "UMLS:C0238502", "MEDDRA:10067784", "SNOMEDCT:12068006", "medgen:451007", "ICD10:N81.0", "ICD9:618.03", "HP:0100821"], "information_content": 100.0}
{"id": "UniProtKB:Q9NTN3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleotide sugar transporter SLC35D1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NTN3-1", "PR:Q9NTN3-1", "ENSEMBL:ENSP00000235345", "ENSEMBL:ENSP00000235345.5"], "information_content": 100.0}
{"id": "MONDO:0010094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylocarpotarsal synostosis syndrome", "equivalent_identifiers": ["MONDO:0010094", "DOID:0090116", "OMIM:272460", "orphanet:3275", "UMLS:C1848934", "MESH:C535780", "SNOMEDCT:702351004", "medgen:341339", "ICD10:Q76.4"], "information_content": 100.0}
{"id": "MONDO:0012928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 42", "equivalent_identifiers": ["MONDO:0012928", "DOID:0110794", "OMIM:612539", "orphanet:171863", "UMLS:C2675528", "MESH:C567262", "SNOMEDCT:763070001", "medgen:393407"], "information_content": 100.0}
{"id": "NCBIGene:343071", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF10", "equivalent_identifiers": ["NCBIGene:343071", "ENSEMBL:ENSG00000187545", "HGNC:27997", "UMLS:C1826682", "UniProtKB:O60809", "PR:O60809", "ENSEMBL:ENSP00000235347", "ENSEMBL:ENSP00000235347.4", "ENSEMBL:ENSP00000488485", "ENSEMBL:ENSP00000488485.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13029-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PR domain zinc finger protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13029-1", "PR:Q13029-1", "ENSEMBL:ENSP00000235372", "ENSEMBL:ENSP00000235372.6", "ENSEMBL:ENSP00000312352", "ENSEMBL:ENSP00000312352.6"], "information_content": 100.0}
{"id": "UniProtKB:P41220-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P41220-1", "PR:P41220-1", "ENSEMBL:ENSP00000235382", "ENSEMBL:ENSP00000235382.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGM6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tryptophan--tRNA ligase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGM6-1", "PR:Q9UGM6-1", "ENSEMBL:ENSP00000235521", "ENSEMBL:ENSP00000235521.4"], "information_content": 100.0}
{"id": "MONDO:0030311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 52", "equivalent_identifiers": ["MONDO:0030311", "DOID:0070425", "OMIM:619386", "UMLS:C5543592", "medgen:1780479"], "information_content": 100.0}
{"id": "NCBIGene:84618", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NT5C1A", "equivalent_identifiers": ["NCBIGene:84618", "ENSEMBL:ENSG00000116981", "HGNC:17819", "OMIM:610525", "UMLS:C1425101", "UniProtKB:Q9BXI3", "PR:Q9BXI3", "ENSEMBL:ENSP00000235628", "ENSEMBL:ENSP00000235628.1", "UMLS:C2973302", "MESH:C552626"], "information_content": 100.0}
{"id": "NCBIGene:8574", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AKR7A2", "equivalent_identifiers": ["NCBIGene:8574", "ENSEMBL:ENSG00000053371", "HGNC:389", "OMIM:603418", "UMLS:C1332073", "UniProtKB:B4DZX4", "UniProtKB:O43488", "PR:O43488", "ENSEMBL:ENSP00000235835", "ENSEMBL:ENSP00000235835.3", "UMLS:C5441633", "UniProtKB:V9HWA2"], "information_content": 100.0}
{"id": "MONDO:0010083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "succinic semialdehyde dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0010083", "DOID:0060175", "OMIM:271980", "orphanet:22", "UMLS:C0268631", "MESH:C535803", "SNOMEDCT:49748000", "medgen:124340"], "information_content": 100.0}
{"id": "UniProtKB:Q32P28-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prolyl 3-hydroxylase 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q32P28-3", "PR:Q32P28-3", "ENSEMBL:ENSP00000236040", "ENSEMBL:ENSP00000236040.4"], "information_content": 100.0}
{"id": "MONDO:0007208", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Boomerang dysplasia", "equivalent_identifiers": ["MONDO:0007208", "DOID:0050680", "OMIM:112310", "orphanet:1263", "UMLS:C0432201", "MESH:C536573", "SNOMEDCT:254054000", "medgen:96579", "icd11.foundation:423736259"], "information_content": 100.0}
{"id": "MONDO:0008007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tooth ankylosis", "equivalent_identifiers": ["MONDO:0008007", "DOID:12661", "OMIM:157950", "orphanet:1077", "UMLS:C0155930", "MESH:D020254", "MEDDRA:10002574", "MEDDRA:10044019", "SNOMEDCT:14901003", "medgen:57843", "icd11.foundation:2066427602", "ICD10:K03.5", "ICD9:521.6", "HP:0033791"], "information_content": 100.0}
{"id": "UniProtKB:O60779-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thiamine transporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60779-1", "PR:O60779-1", "ENSEMBL:ENSP00000236137", "ENSEMBL:ENSP00000236137.5"], "information_content": 100.0}
{"id": "MONDO:0006676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "beriberi", "equivalent_identifiers": ["MONDO:0006676", "DOID:0070313", "DOID:13725", "EFO:1000837", "UMLS:C0005122", "MESH:D001602", "MEDDRA:10004481", "MEDDRA:10004482", "NCIT:C34418", "SNOMEDCT:36656008", "medgen:543", "icd11.foundation:632832064", "ICD10:E51.1", "ICD9:265.0"], "information_content": 92.8}
{"id": "MONDO:0003996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basal ganglia disorder", "equivalent_identifiers": ["MONDO:0003996", "DOID:679", "EFO:0009533", "UMLS:C0004782", "UMLS:C4520981", "MESH:D001480", "SNOMEDCT:70835005", "medgen:1619147", "HP:0002134"], "information_content": 69.7}
{"id": "UniProtKB:O75379-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vesicle-associated membrane protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75379-1", "PR:O75379-1", "ENSEMBL:ENSP00000236192", "ENSEMBL:ENSP00000236192.7", "ENSEMBL:ENSP00000435933", "ENSEMBL:ENSP00000435933.1"], "information_content": 100.0}
{"id": "UniProtKB:Q2M3M2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/glucose cotransporter 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q2M3M2-2", "PR:Q2M3M2-2", "ENSEMBL:ENSP00000236495", "ENSEMBL:ENSP00000236495.5"], "information_content": 100.0}
{"id": "MONDO:0013090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 19q13.11 deletion syndrome", "equivalent_identifiers": ["MONDO:0013090", "DOID:0060408", "orphanet:217346", "UMLS:C2751651", "UMLS:C4304577", "MESH:C567810", "SNOMEDCT:719599008", "medgen:414432"], "information_content": 92.8}
{"id": "NCBIGene:1509", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTSD", "equivalent_identifiers": ["NCBIGene:1509", "ENSEMBL:ENSG00000117984", "HGNC:2529", "OMIM:116840", "UMLS:C1332805", "UniProtKB:P07339", "PR:P07339", "ENSEMBL:ENSP00000236671", "ENSEMBL:ENSP00000236671.2", "UMLS:C2606220", "MESH:C533922", "UniProtKB:V9HWI3"], "information_content": 85.5}
{"id": "NCBIGene:51146", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "A4GNT", "equivalent_identifiers": ["NCBIGene:51146", "ENSEMBL:ENSG00000118017", "HGNC:17968", "OMIM:616709", "UMLS:C1538890", "UniProtKB:Q9UNA3", "PR:Q9UNA3", "ENSEMBL:ENSP00000236709", "ENSEMBL:ENSP00000236709.3"], "information_content": 100.0}
{"id": "MONDO:0004970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenocarcinoma", "equivalent_identifiers": ["MONDO:0004970", "DOID:299", "EFO:0000228", "UMLS:C0001418", "UMLS:C5551397", "MESH:D000230", "MEDDRA:10001141", "MEDDRA:10001166", "MEDDRA:10076630", "NCIT:C2852", "SNOMEDCT:1186968006", "SNOMEDCT:1187332001", "SNOMEDCT:443961001", "medgen:122"], "information_content": 50.5}
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{"id": "MONDO:0007374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schnyder corneal dystrophy", "equivalent_identifiers": ["MONDO:0007374", "DOID:0060456", "OMIM:121800", "orphanet:98967", "UMLS:C0271287", "MESH:C535475", "SNOMEDCT:39662004", "SNOMEDCT:419395007", "medgen:124391", "HP:0007760"], "information_content": 100.0}
{"id": "UniProtKB:Q08AD1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calmodulin-regulated spectrin-associated protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08AD1-1", "PR:Q08AD1-1", "ENSEMBL:ENSP00000236925", "ENSEMBL:ENSP00000236925.4"], "information_content": 100.0}
{"id": "UniProtKB:P31939-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional purine biosynthesis protein ATIC isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P31939-1", "PR:P31939-1", "ENSEMBL:ENSP00000236959", "ENSEMBL:ENSP00000236959.9"], "information_content": 100.0}
{"id": "NCBIGene:7141", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNP1", "equivalent_identifiers": ["NCBIGene:7141", "ENSEMBL:ENSG00000118245", "HGNC:11951", "OMIM:190231", "UMLS:C1420830", "UniProtKB:P09430", "PR:P09430", "ENSEMBL:ENSP00000236979", "ENSEMBL:ENSP00000236979.2", "UMLS:C1698781", "UniProtKB:Q4ZG82"], "information_content": 95.4}
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{"id": "NCBIGene:23033", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DOP1A", "equivalent_identifiers": ["NCBIGene:23033", "ENSEMBL:ENSG00000083097", "HGNC:21194", "OMIM:616823", "UMLS:C1824958", "UniProtKB:B2RWN9", "UMLS:C4041859", "MESH:C000599262", "UniProtKB:Q5JWR5", "PR:Q5JWR5", "ENSEMBL:ENSP00000195654", "ENSEMBL:ENSP00000195654.3", "UniProtKB:Q5TA12", "ENSEMBL:ENSP00000237163", "ENSEMBL:ENSP00000237163.6", "ENSEMBL:ENSP00000358754", "ENSEMBL:ENSP00000358754.3"]}
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{"id": "MONDO:0008628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ureterocele", "equivalent_identifiers": ["MONDO:0008628", "DOID:4022", "OMIM:191650", "EFO:1001227", "UMLS:C0041960", "MESH:D014518", "MEDDRA:10056433", "NCIT:C123159", "SNOMEDCT:12818004", "medgen:21778", "icd11.foundation:408801251", "HP:0000070"], "information_content": 88.2}
{"id": "NCBIGene:81833", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPACA1", "equivalent_identifiers": ["NCBIGene:81833", "ENSEMBL:ENSG00000118434", "HGNC:14967", "OMIM:612739", "UMLS:C1423094", "UniProtKB:Q9HBV2", "PR:Q9HBV2", "ENSEMBL:ENSP00000237201", "ENSEMBL:ENSP00000237201.1", "UMLS:C1310483", "MESH:C455113"], "information_content": 95.4}
{"id": "NCBIGene:9519", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBPL1", "equivalent_identifiers": ["NCBIGene:9519", "ENSEMBL:ENSG00000028839", "HGNC:11589", "OMIM:605521", "UMLS:C1336594", "UniProtKB:P62380", "PR:P62380", "ENSEMBL:ENSP00000237264", "ENSEMBL:ENSP00000237264.3", "ENSEMBL:ENSP00000478795", "ENSEMBL:ENSP00000478795.1", "UMLS:C0213233", "MESH:C441409"], "information_content": 92.8}
{"id": "MONDO:0006585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodermatitis", "equivalent_identifiers": ["MONDO:0006585", "DOID:3309", "EFO:1000740", "UMLS:C0027822", "MESH:D009450", "MEDDRA:10029263", "NCIT:C111963", "SNOMEDCT:267854005", "medgen:45056"], "information_content": 100.0}
{"id": "NCBIGene:153918", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZC2HC1B", "equivalent_identifiers": ["NCBIGene:153918", "ENSEMBL:ENSG00000118491", "HGNC:21174", "UMLS:C3470352", "UniProtKB:Q5TFG8", "PR:Q5TFG8", "ENSEMBL:ENSP00000237275", "ENSEMBL:ENSP00000237275.6", "UMLS:C2983308"], "information_content": 100.0}
{"id": "MONDO:0020525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient neonatal diabetes mellitus", "equivalent_identifiers": ["MONDO:0020525", "DOID:0060334", "UMLS:C0342273", "NCIT:C114899", "SNOMEDCT:237603002", "medgen:449530", "icd11.foundation:1596856936", "ICD10:P70.2", "HP:0008255"], "information_content": 90.9}
{"id": "MONDO:0018944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gestational trophoblastic neoplasm", "equivalent_identifiers": ["MONDO:0018944", "DOID:3590", "orphanet:59305", "UMLS:C0278796", "UMLS:C1135868", "MEDDRA:10018211", "MEDDRA:10018212", "MEDDRA:10061988", "NCIT:C4699", "NCIT:C7887", "SNOMEDCT:609517002", "SNOMEDCT:609519004", "medgen:210107", "icd11.foundation:1972855304", "ICD10:O01", "ICD9:630"], "information_content": 77.1}
{"id": "UniProtKB:Q7Z6V5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA-specific adenosine deaminase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6V5-1", "PR:Q7Z6V5-1", "ENSEMBL:ENSP00000237283", "ENSEMBL:ENSP00000237283.8"], "information_content": 100.0}
{"id": "UniProtKB:Q8TBY8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyamine-modulated factor 1-binding protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBY8-2", "PR:Q8TBY8-2", "ENSEMBL:ENSP00000237353", "ENSEMBL:ENSP00000237353.10"], "information_content": 100.0}
{"id": "MONDO:0013066", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 3", "equivalent_identifiers": ["MONDO:0013066", "DOID:0111772", "OMIM:612965", "UMLS:C3489793", "medgen:483746"], "information_content": 100.0}
{"id": "NCBIGene:80306", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MED28", "equivalent_identifiers": ["NCBIGene:80306", "ENSEMBL:ENSG00000118579", "HGNC:24628", "OMIM:610311", "UMLS:C1537682", "UniProtKB:Q9H204", "PR:Q9H204", "ENSEMBL:ENSP00000237380", "ENSEMBL:ENSP00000237380.6", "UMLS:C1566120", "MESH:C496877"], "information_content": 92.8}
{"id": "MONDO:0002010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FG syndrome", "equivalent_identifiers": ["MONDO:0002010", "DOID:14711", "OMIM.PS:305450", "EFO:0009297", "UMLS:C0220769", "MESH:C537923", "SNOMEDCT:49984004", "medgen:113106", "icd11.foundation:156523187"], "information_content": 87.2}
{"id": "NCBIGene:7844", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF103", "equivalent_identifiers": ["NCBIGene:7844", "ENSEMBL:ENSG00000239305", "HGNC:12859", "OMIM:602507", "UMLS:C1421568", "UniProtKB:O00237", "PR:O00237", "ENSEMBL:ENSP00000237455", "ENSEMBL:ENSP00000237455.4", "UMLS:C0537308", "MESH:C105129"], "information_content": 100.0}
{"id": "MONDO:0018747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired epidermolysis bullosa", "equivalent_identifiers": ["MONDO:0018747", "DOID:4313", "orphanet:46487", "EFO:1000691", "UMLS:C0079293", "MESH:D016107", "MEDDRA:10056508", "MEDDRA:10074980", "NCIT:C84690", "SNOMEDCT:2772003", "medgen:37178", "icd11.foundation:2034586329", "ICD10:L12.3"], "information_content": 100.0}
{"id": "MONDO:0850301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pemphigoid", "equivalent_identifiers": ["MONDO:0850301", "DOID:0080841", "SNOMEDCT:86142006", "icd11.foundation:445309625"], "information_content": 100.0}
{"id": "MONDO:0006543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa dystrophica", "equivalent_identifiers": ["MONDO:0006543", "DOID:4959", "orphanet:303", "EFO:1000692", "UMLS:C0079294", "MESH:D016108", "MEDDRA:10087381", "NCIT:C84691", "SNOMEDCT:254185007", "medgen:37179", "icd11.foundation:1060981106"], "information_content": 82.6}
{"id": "UniProtKB:P04844-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P04844-1", "PR:P04844-1", "ENSEMBL:ENSP00000237530", "ENSEMBL:ENSP00000237530.6", "ENSEMBL:ENSP00000517679", "ENSEMBL:ENSP00000517679.1"], "information_content": 100.0}
{"id": "MONDO:0010850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tessier number 4 facial cleft", "equivalent_identifiers": ["MONDO:0010850", "DOID:0111706", "OMIM:600251", "orphanet:141258", "UMLS:C4703420", "medgen:1642051", "icd11.foundation:1796306367", "HP:0031576"], "information_content": 100.0}
{"id": "UniProtKB:Q13563-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polycystin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13563-1", "PR:Q13563-1", "ENSEMBL:ENSP00000237596", "ENSEMBL:ENSP00000237596.2"], "information_content": 100.0}
{"id": "MONDO:0010913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Caroli disease", "equivalent_identifiers": ["MONDO:0010913", "DOID:0050876", "OMIM:600643", "orphanet:53035", "EFO:1001286", "UMLS:C0162510", "UMLS:C1833541", "MESH:C531647", "MESH:D016767", "MEDDRA:10007671", "NCIT:C84619", "SNOMEDCT:717232005", "medgen:57924", "icd11.foundation:1757434239"], "information_content": 100.0}
{"id": "MONDO:0017417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal-hepatic-pancreatic dysplasia", "equivalent_identifiers": ["MONDO:0017417", "DOID:0060259", "OMIM.PS:208540", "orphanet:294415", "UMLS:C2673883", "MESH:C567142", "SNOMEDCT:763891005", "medgen:382215"], "information_content": 92.8}
{"id": "MONDO:0000494", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal fibrosis", "equivalent_identifiers": ["MONDO:0000494", "DOID:0050855", "EFO:1001517", "UMLS:C0151650", "MEDDRA:10016647", "MEDDRA:10023421", "NCIT:C201689", "SNOMEDCT:197660000", "medgen:508798", "HP:0030760"], "information_content": 95.4}
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{"id": "MONDO:0008097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nevus sebaceous", "equivalent_identifiers": ["MONDO:0008097", "DOID:0111530", "OMIM:163200", "orphanet:2612", "EFO:1001841", "UMLS:C3854181", "UMLS:C4552097", "MESH:D054000", "MEDDRA:10029386", "MEDDRA:10029387", "MEDDRA:10039785", "MEDDRA:10062806", "MEDDRA:10073898", "NCIT:C4678", "SNOMEDCT: 274897005", "SNOMEDCT:52298009", "SNOMEDCT:707136009", "medgen:1646345", "HP:0010815"], "information_content": 95.4}
{"id": "MONDO:0002119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osteofibroma", "equivalent_identifiers": ["MONDO:0002119", "DOID:180", "EFO:0007412", "UMLS:C0206640", "UMLS:C0555196", "UMLS:C5400836", "MESH:D018214", "MEDDRA:10073852", "NCIT:C173820", "NCIT:C8422", "SNOMEDCT:25603007", "SNOMEDCT:302862001", "SNOMEDCT:302863006", "SNOMEDCT:80699009", "medgen:104906", "HP:0030426"], "information_content": 89.4}
{"id": "MONDO:0004997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondroblastoma", "equivalent_identifiers": ["MONDO:0004997", "DOID:2649", "EFO:0000331", "UMLS:C0008441", "MESH:D002804", "MEDDRA:10008686", "NCIT:C2945", "SNOMEDCT:9001003", "medgen:40270", "HP:0030432"], "information_content": 92.8}
{"id": "MONDO:0056796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obstructive nephropathy", "equivalent_identifiers": ["MONDO:0056796", "DOID:0070314", "UMLS:C0149939", "MEDDRA:10077862", "NCIT:C120902", "SNOMEDCT:86249007", "medgen:508456", "icd11.foundation:848128884"], "information_content": 100.0}
{"id": "UniProtKB:O00472-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA polymerase II elongation factor ELL2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00472-1", "PR:O00472-1", "ENSEMBL:ENSP00000237853", "ENSEMBL:ENSP00000237853.4"], "information_content": 100.0}
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{"id": "NCBIGene:84417", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ECRG4", "equivalent_identifiers": ["NCBIGene:84417", "ENSEMBL:ENSG00000119147", "HGNC:24642", "OMIM:611752", "UMLS:C1824107", "UniProtKB:B8ZZE5", "ENSEMBL:ENSP00000386421", "ENSEMBL:ENSP00000386421.1", "UMLS:C1311365", "MESH:C476999", "UniProtKB:Q9H1Z8", "PR:Q9H1Z8", "ENSEMBL:ENSP00000238044", "ENSEMBL:ENSP00000238044.3"], "information_content": 100.0}
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{"id": "NCBIGene:51692", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPSF3", "equivalent_identifiers": ["NCBIGene:51692", "ENSEMBL:ENSG00000119203", "HGNC:2326", "OMIM:606029", "UMLS:C1413686", "UniProtKB:G5E9W3", "ENSEMBL:ENSP00000418957", "ENSEMBL:ENSP00000418957.1", "UMLS:C5391631", "MESH:C000706707", "UniProtKB:Q9UKF6", "PR:Q9UKF6", "ENSEMBL:ENSP00000238112", "ENSEMBL:ENSP00000238112.3"], "information_content": 89.4}
{"id": "UniProtKB:Q53HC0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 92 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53HC0-1", "PR:Q53HC0-1", "ENSEMBL:ENSP00000238156", "ENSEMBL:ENSP00000238156.3", "ENSEMBL:ENSP00000488830", "ENSEMBL:ENSP00000488830.1"], "information_content": 100.0}
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{"id": "NCBIGene:81932", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HDHD3", "equivalent_identifiers": ["NCBIGene:81932", "ENSEMBL:ENSG00000119431", "HGNC:28171", "UMLS:C1539656", "UniProtKB:Q9BSH5", "PR:Q9BSH5", "ENSEMBL:ENSP00000238379", "ENSEMBL:ENSP00000238379.5", "ENSEMBL:ENSP00000363295", "ENSEMBL:ENSP00000363295.3"], "information_content": 95.4}
{"id": "MONDO:0009107", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diastrophic dysplasia", "equivalent_identifiers": ["MONDO:0009107", "DOID:14687", "OMIM:222600", "orphanet:628", "UMLS:C0220726", "UMLS:C1857255", "MESH:C536170", "MESH:C565626", "MEDDRA:10081228", "NCIT:C156311", "SNOMEDCT:58561002", "medgen:113103", "icd11.foundation:1681550532", "ICD10:Q77.5"], "information_content": 100.0}
{"id": "MONDO:0001601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ovale malaria", "equivalent_identifiers": ["MONDO:0001601", "DOID:12919", "UMLS:C0152072", "MEDDRA:10033117", "SNOMEDCT:19341001", "medgen:508870", "ICD10:B53.0", "ICD9:084.3"], "information_content": 100.0}
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{"id": "NCBIGene:5273", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINB10", "equivalent_identifiers": ["NCBIGene:5273", "ENSEMBL:ENSG00000242550", "HGNC:8942", "OMIM:602058", "UMLS:C1418545", "UniProtKB:B2RC45", "UMLS:C1702032", "MESH:C096854", "UniProtKB:P48595", "PR:P48595", "ENSEMBL:ENSP00000238508", "ENSEMBL:ENSP00000238508.3"], "information_content": 95.4}
{"id": "NCBIGene:145258", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSC", "equivalent_identifiers": ["NCBIGene:145258", "ENSEMBL:ENSG00000133937", "HGNC:4612", "OMIM:138890", "UMLS:C1415316", "UniProtKB:P56915", "PR:P56915", "ENSEMBL:ENSP00000238558", "ENSEMBL:ENSP00000238558.3", "UMLS:C1504941", "UMLS:C1711252", "MESH:C497992"], "information_content": 100.0}
{"id": "MONDO:0012818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 9", "equivalent_identifiers": ["MONDO:0012818", "DOID:0111107", "OMIM:612225", "UMLS:C2677132", "MESH:C567393", "SNOMEDCT:609576002", "medgen:383033"], "information_content": 100.0}
{"id": "MONDO:0011668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MODY, Type 6", "equivalent_identifiers": ["MONDO:0011668", "DOID:0111104", "OMIM:606394", "UMLS:C1853371", "MESH:C565231", "NCIT:C129745", "SNOMEDCT:609573005", "medgen:344030"], "information_content": 100.0}
{"id": "UniProtKB:Q86TW2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AarF domain-containing protein kinase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86TW2-2", "PR:Q86TW2-2", "ENSEMBL:ENSP00000238561", "ENSEMBL:ENSP00000238561.5"], "information_content": 100.0}
{"id": "MONDO:0012004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parathyroid gland carcinoma", "equivalent_identifiers": ["MONDO:0012004", "DOID:1540", "OMIM:608266", "orphanet:143", "EFO:1000456", "UMLS:C0687150", "NCIT:C4906", "SNOMEDCT:255037004", "medgen:146361", "ICD10:C75.0", "ICD9:194.1", "HP:0006780"], "information_content": 85.5}
{"id": "MONDO:0012784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive ataxia due to ubiquinone deficiency", "equivalent_identifiers": ["MONDO:0012784", "DOID:0070241", "OMIM:612016", "orphanet:139485", "UMLS:C2677589", "MESH:C567436", "SNOMEDCT:725394006", "medgen:436985"], "information_content": 100.0}
{"id": "MONDO:0003433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "water-clear cell adenoma", "equivalent_identifiers": ["MONDO:0003433", "DOID:5401", "UMLS:C0334321", "NCIT:C4155", "SNOMEDCT:26638004", "medgen:83129"], "information_content": 100.0}
{"id": "MONDO:0006890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parathyroid gland adenoma", "equivalent_identifiers": ["MONDO:0006890", "DOID:7608", "EFO:1001087", "UMLS:C0262587", "MEDDRA:10033940", "NCIT:C156757", "NCIT:C3916", "SNOMEDCT:128474007", "medgen:75502", "ICD10:D35.1", "HP:0002897"], "information_content": 81.7}
{"id": "MONDO:0003431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipoadenoma", "equivalent_identifiers": ["MONDO:0003431", "DOID:5398", "UMLS:C0334325", "MEDDRA:10057341", "NCIT:C4159", "SNOMEDCT:22024005", "medgen:83133"], "information_content": 92.8}
{"id": "MONDO:0007335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 1", "equivalent_identifiers": ["MONDO:0007335", "DOID:0080395", "OMIM:119530", "UMLS:C1861537", "MESH:C566121", "NCIT:C124838", "medgen:349303"], "information_content": 100.0}
{"id": "NCBIGene:91754", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEK9", "equivalent_identifiers": ["NCBIGene:91754", "ENSEMBL:ENSG00000119638", "HGNC:18591", "OMIM:609798", "UMLS:C1425629", "UniProtKB:A0A7I2V454", "ENSEMBL:ENSP00000503827", "ENSEMBL:ENSP00000503827.1", "ENSEMBL:ENSP00000504104", "ENSEMBL:ENSP00000504104.1", "UniProtKB:A0A7I2V5R1", "ENSEMBL:ENSP00000504620", "ENSEMBL:ENSP00000504620.1", "UniProtKB:Q6PKF2", "UniProtKB:Q8TD19", "PR:Q8TD19", "ENSEMBL:ENSP00000238616", "ENSEMBL:ENSP00000238616.5", "UMLS:C1138216", "MESH:C462119"], "information_content": 85.5}
{"id": "MONDO:0017436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital contracture syndrome", "equivalent_identifiers": ["MONDO:0017436", "DOID:0060558", "OMIM.PS:253310", "orphanet:294965", "UMLS:C5848326", "medgen:1863860", "icd11.foundation:1866017256", "ICD10:Q68.8"], "information_content": 83.6}
{"id": "UniProtKB:Q96FT9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 43 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96FT9-2", "PR:Q96FT9-2", "ENSEMBL:ENSP00000238628", "ENSEMBL:ENSP00000238628.6"], "information_content": 100.0}
{"id": "MONDO:0008673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofacial dysostosis, Weyers type", "equivalent_identifiers": ["MONDO:0008673", "DOID:0111571", "OMIM:193530", "orphanet:952", "UMLS:C0457013", "MESH:C536695", "SNOMEDCT:277807007", "medgen:141594", "icd11.foundation:547338814"], "information_content": 100.0}
{"id": "NCBIGene:64207", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IRF2BPL", "equivalent_identifiers": ["NCBIGene:64207", "ENSEMBL:ENSG00000119669", "HGNC:14282", "OMIM:611720", "UMLS:C1422540", "UniProtKB:Q9H1B7", "PR:Q9H1B7", "ENSEMBL:ENSP00000238647", "ENSEMBL:ENSP00000238647.3", "UMLS:C1309729", "MESH:C417261"], "information_content": 100.0}
{"id": "MONDO:0030073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mitchell syndrome", "equivalent_identifiers": ["MONDO:0030073", "DOID:0070516", "OMIM:618960", "orphanet:631248", "UMLS:C5394554", "SNOMEDCT:1300194008", "medgen:1714342"], "information_content": 100.0}
{"id": "UniProtKB:P49753-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-coenzyme A thioesterase 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49753-1", "PR:P49753-1", "ENSEMBL:ENSP00000238651", "ENSEMBL:ENSP00000238651.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPI3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choline/ethanolamine transporter FLVCR2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPI3-1", "PR:Q9UPI3-1", "ENSEMBL:ENSP00000238667", "ENSEMBL:ENSP00000238667.4"], "information_content": 100.0}
{"id": "MONDO:0005998", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trombiculiasis", "equivalent_identifiers": ["MONDO:0005998", "DOID:8399", "EFO:0007526", "UMLS:C0041170", "MESH:D014323", "medgen:11928"], "information_content": 100.0}
{"id": "UniProtKB:P10600-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transforming growth factor beta-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P10600-1", "PR:P10600-1", "ENSEMBL:ENSP00000238682", "ENSEMBL:ENSP00000238682.3", "ENSEMBL:ENSP00000502685", "ENSEMBL:ENSP00000502685.1"], "information_content": 95.4}
{"id": "MONDO:0017435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "popliteal pterygium syndrome", "equivalent_identifiers": ["MONDO:0017435", "DOID:0060055", "orphanet:294963", "UMLS:C0265259", "MESH:C562509", "MEDDRA:10079892", "NCIT:C118786", "SNOMEDCT:66783006", "medgen:78543", "icd11.foundation:543218573"], "information_content": 90.9}
{"id": "UniProtKB:Q9BWT3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly(A) polymerase gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWT3-1", "PR:Q9BWT3-1", "ENSEMBL:ENSP00000238714", "ENSEMBL:ENSP00000238714.3"], "information_content": 100.0}
{"id": "MONDO:0012916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 2p16.1-p15 deletion syndrome", "equivalent_identifiers": ["MONDO:0012916", "DOID:0060415", "OMIM:612513", "orphanet:261349", "UMLS:C2675875", "UMLS:C4304538", "MESH:C567289", "SNOMEDCT:719651000", "medgen:390902"], "information_content": 100.0}
{"id": "MONDO:0013949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 11A (Zellweger)", "equivalent_identifiers": ["MONDO:0013949", "DOID:0080485", "OMIM:614883", "UMLS:C1866259", "UMLS:C1866260", "UMLS:C3554000", "MESH:C566625", "MESH:C566626", "medgen:766914"], "information_content": 100.0}
{"id": "UniProtKB:Q53FA7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "quinone oxidoreductase PIG3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53FA7-1", "PR:Q53FA7-1", "ENSEMBL:ENSP00000238721", "ENSEMBL:ENSP00000238721.4", "ENSEMBL:ENSP00000337834", "ENSEMBL:ENSP00000337834.4"], "information_content": 100.0}
{"id": "NCBIGene:23433", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHOQ", "equivalent_identifiers": ["NCBIGene:23433", "ENSEMBL:ENSG00000119729", "HGNC:17736", "OMIM:605857", "UMLS:C1425056", "UniProtKB:P17081", "PR:P17081", "ENSEMBL:ENSP00000238738", "ENSEMBL:ENSP00000238738.4", "UMLS:C1610315", "MESH:C503256", "UniProtKB:V9HWD0"], "information_content": 95.4}
{"id": "UniProtKB:Q6NUQ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 214 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NUQ4-1", "PR:Q6NUQ4-1", "ENSEMBL:ENSP00000238788", "ENSEMBL:ENSP00000238788.9", "ENSEMBL:ENSP00000319469", "ENSEMBL:ENSP00000319469.7"], "information_content": 100.0}
{"id": "MONDO:0011630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 28", "equivalent_identifiers": ["MONDO:0011630", "DOID:0110365", "OMIM:606068", "UMLS:C1419614", "medgen:244030"], "information_content": 100.0}
{"id": "NCBIGene:29094", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LGALSL", "equivalent_identifiers": ["NCBIGene:29094", "ENSEMBL:ENSG00000119862", "HGNC:25012", "OMIM:617902", "UMLS:C3470564", "UniProtKB:Q3ZCW2", "PR:Q3ZCW2", "ENSEMBL:ENSP00000238875", "ENSEMBL:ENSP00000238875.4", "UMLS:C1721922", "MESH:C510476"], "information_content": 95.4}
{"id": "NCBIGene:9419", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRIPT", "equivalent_identifiers": ["NCBIGene:9419", "ENSEMBL:ENSG00000119878", "HGNC:14312", "OMIM:604594", "UMLS:C1824793", "UniProtKB:Q9P021", "PR:Q9P021", "ENSEMBL:ENSP00000238892", "ENSEMBL:ENSP00000238892.3", "ENSEMBL:ENSP00000520690", "ENSEMBL:ENSP00000520690.1", "ENSEMBL:ENSP00000520691", "ENSEMBL:ENSP00000520691.1", "UMLS:C1431290", "MESH:C112203"], "information_content": 92.8}
{"id": "MONDO:0016566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "loiasis", "equivalent_identifiers": ["MONDO:0016566", "DOID:13523", "orphanet:2404", "EFO:1000729", "UMLS:C0023968", "MESH:D008118", "MEDDRA:10024736", "MEDDRA:10024797", "NCIT:C34784", "SNOMEDCT:44250009", "medgen:6132", "icd11.foundation:709184369", "ICD10:B74.3", "ICD9:125.2"], "information_content": 100.0}
{"id": "MONDO:0008218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hailey-Hailey disease", "equivalent_identifiers": ["MONDO:0008218", "DOID:0050429", "DOID:2732", "OMIM:169600", "OMIM:268400", "OMIM:618625", "orphanet:2841", "UMLS:C0032339", "UMLS:C0085106", "UMLS:C5203410", "UMLS:C5231433", "MESH:D011038", "MESH:D016506", "MEDDRA:10004264", "MEDDRA:10004265", "MEDDRA:10016203", "MEDDRA:10019029", "MEDDRA:10052465", "MEDDRA:10052510", "NCIT:C178826", "NCIT:C178827", "NCIT:C3335", "NCIT:C82865", "SNOMEDCT:1003922004", "SNOMEDCT:1003923009", "SNOMEDCT:69093006", "SNOMEDCT:79468000", "medgen:43100", "icd11.foundation:818400628", "ICD10:Q82.8"], "information_content": 89.4}
{"id": "NCBIGene:79847", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC68A1", "equivalent_identifiers": ["NCBIGene:79847", "ENSEMBL:ENSG00000138111", "HGNC:26196", "OMIM:620255", "UMLS:C1823444", "UniProtKB:Q14CX5", "PR:Q14CX5", "ENSEMBL:ENSP00000238936", "ENSEMBL:ENSP00000238936.3", "UMLS:C5391267", "MESH:C000656624"], "information_content": 95.4}
{"id": "MONDO:0005125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "borderline leprosy", "equivalent_identifiers": ["MONDO:0005125", "DOID:1023", "EFO:0001055", "UMLS:C0023346", "UMLS:C3251797", "MESH:D015439", "MEDDRA:10006029", "MEDDRA:10006030", "MEDDRA:10006031", "SNOMEDCT:400008009", "SNOMEDCT:400154003", "medgen:7305", "icd11.foundation:56771163", "ICD10:A30.3", "ICD9:030.3"], "information_content": 100.0}
{"id": "NCBIGene:5507", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R3C", "equivalent_identifiers": ["NCBIGene:5507", "ENSEMBL:ENSG00000119938", "HGNC:9293", "OMIM:602999", "UMLS:C1418830", "UniProtKB:Q9UQK1", "PR:Q9UQK1", "ENSEMBL:ENSP00000238994", "ENSEMBL:ENSP00000238994.5", "UMLS:C1453191", "MESH:C491294"], "information_content": 92.8}
{"id": "NCBIGene:2834", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRLHR", "equivalent_identifiers": ["NCBIGene:2834", "ENSEMBL:ENSG00000119973", "HGNC:4464", "OMIM:600895", "UMLS:C1826696", "UniProtKB:A5JUU5", "UMLS:C0675110", "MESH:C112345", "UniProtKB:P49683", "PR:P49683", "ENSEMBL:ENSP00000239032", "ENSEMBL:ENSP00000239032.2", "ENSEMBL:ENSP00000490073", "ENSEMBL:ENSP00000490073.1"], "information_content": 100.0}
{"id": "NCBIGene:3218", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXB8", "equivalent_identifiers": ["NCBIGene:3218", "ENSEMBL:ENSG00000120068", "HGNC:5119", "OMIM:142963", "UMLS:C1415671", "UniProtKB:P17481", "PR:P17481", "ENSEMBL:ENSP00000239144", "ENSEMBL:ENSP00000239144.4", "UMLS:C1455522", "MESH:C490669", "UniProtKB:Q8N8T3"], "information_content": 95.4}
{"id": "NCBIGene:3215", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXB5", "equivalent_identifiers": ["NCBIGene:3215", "ENSEMBL:ENSG00000120075", "HGNC:5116", "OMIM:142960", "UMLS:C1415668", "UniProtKB:P09067", "PR:P09067", "ENSEMBL:ENSP00000239151", "ENSEMBL:ENSP00000239151.4", "UMLS:C1505556", "MESH:C489126"], "information_content": 92.8}
{"id": "NCBIGene:3217", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXB7", "equivalent_identifiers": ["NCBIGene:3217", "ENSEMBL:ENSG00000260027", "HGNC:5118", "OMIM:142962", "UMLS:C1415670", "UniProtKB:P09629", "PR:P09629", "ENSEMBL:ENSP00000239165", "ENSEMBL:ENSP00000239165.7", "UMLS:C1505265", "MESH:C490538"], "information_content": 95.4}
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{"id": "MONDO:0009404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertelorism, microtia, facial clefting syndrome", "equivalent_identifiers": ["MONDO:0009404", "DOID:14670", "OMIM:239800", "orphanet:2213", "UMLS:C0220742", "MESH:C537632", "SNOMEDCT:721836009", "medgen:113104"], "information_content": 100.0}
{"id": "MONDO:0008797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anodontia", "equivalent_identifiers": ["MONDO:0008797", "DOID:13714", "OMIM:206780", "orphanet:99797", "UMLS:C0399352", "UMLS:C4280622", "UMLS:C5779669", "MESH:D000848", "MEDDRA:10002583", "MEDDRA:10077459", "MEDDRA:10082434", "SNOMEDCT:16958000", "SNOMEDCT:234951001", "SNOMEDCT:26624006", "medgen:98313", "icd11.foundation:413433873", "HP:0000674"], "information_content": 88.2}
{"id": "MONDO:0008411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulnar-mammary syndrome", "equivalent_identifiers": ["MONDO:0008411", "DOID:0060614", "OMIM:181450", "orphanet:3138", "UMLS:C1866994", "MESH:C536937", "MEDDRA:10084409", "SNOMEDCT:700211007", "medgen:357886", "icd11.foundation:1508836700"], "information_content": 100.0}
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{"id": "NCBIGene:3444", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFNA7", "equivalent_identifiers": ["NCBIGene:3444", "ENSEMBL:ENSG00000214042", "HGNC:5428", "OMIM:147567", "UMLS:C1415909", "UniProtKB:P01567", "PR:P01567", "ENSEMBL:ENSP00000239347", "ENSEMBL:ENSP00000239347.3"], "information_content": 95.4}
{"id": "MONDO:0006770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "giant cell reparative granuloma", "equivalent_identifiers": ["MONDO:0006770", "DOID:1866", "EFO:1000950", "UMLS:C0018194", "UMLS:C0162375", "UMLS:C4049867", "MESH:D006101", "MEDDRA:10007932", "NCIT:C121893", "NCIT:C173930", "NCIT:C3067", "SNOMEDCT:15350006", "SNOMEDCT:43917008", "medgen:102385", "ICD10:M27.1", "ICD9:526.3"], "information_content": 92.8}
{"id": "MONDO:0003157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disappearing bone disease", "equivalent_identifiers": ["MONDO:0003157", "DOID:4837", "UMLS:C0029436", "MESH:D010015", "SNOMEDCT:240161003", "medgen:45247"], "information_content": 92.8}
{"id": "MONDO:0015104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porphyria cutanea tarda", "equivalent_identifiers": ["MONDO:0015104", "DOID:3132", "orphanet:101330", "UMLS:C0162566", "MESH:D017119", "MEDDRA:10011665", "MEDDRA:10036183", "NCIT:C27725", "SNOMEDCT:61860000", "medgen:56453", "icd11.foundation:370983230", "ICD10:E80.1"], "information_content": 87.2}
{"id": "MONDO:0006786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatic vein thrombosis", "equivalent_identifiers": ["MONDO:0006786", "DOID:11512", "EFO:1000966", "UMLS:C0019154", "MEDDRA:10019713", "SNOMEDCT:38739001", "medgen:9217", "icd11.foundation:2131410813", "ICD10:I82.0", "HP:0030243"], "information_content": 100.0}
{"id": "NCBIGene:80129", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC170", "equivalent_identifiers": ["NCBIGene:80129", "ENSEMBL:ENSG00000120262", "HGNC:21177", "UMLS:C3469805", "UniProtKB:Q8IYT3", "PR:Q8IYT3", "ENSEMBL:ENSP00000239374", "ENSEMBL:ENSP00000239374.6", "UMLS:C3889631", "MESH:C000599973"], "information_content": 95.4}
{"id": "UniProtKB:Q8WWN8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWN8-1", "PR:Q8WWN8-1", "ENSEMBL:ENSP00000239440", "ENSEMBL:ENSP00000239440.4"], "information_content": 100.0}
{"id": "MONDO:0009229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyaline fibromatosis syndrome", "equivalent_identifiers": ["MONDO:0009229", "DOID:0111669", "OMIM:228600", "orphanet:498474", "UMLS:C5574677", "SNOMEDCT:1197494003", "medgen:1805033"], "information_content": 92.8}
{"id": "NCBIGene:56128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCDHB8", "equivalent_identifiers": ["NCBIGene:56128", "ENSEMBL:ENSG00000120322", "HGNC:8693", "OMIM:606334", "UMLS:C1418342", "UniProtKB:Q9UN66", "PR:Q9UN66", "ENSEMBL:ENSP00000239444", "ENSEMBL:ENSP00000239444.2", "ENSEMBL:ENSP00000517192", "ENSEMBL:ENSP00000517192.1"], "information_content": 100.0}
{"id": "NCBIGene:56126", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCDHB10", "equivalent_identifiers": ["NCBIGene:56126", "ENSEMBL:ENSG00000120324", "HGNC:8681", "OMIM:606336", "UMLS:C1418330", "UniProtKB:Q9UN67", "PR:Q9UN67", "ENSEMBL:ENSP00000239446", "ENSEMBL:ENSP00000239446.4", "ENSEMBL:ENSP00000517197", "ENSEMBL:ENSP00000517197.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5E9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin beta-14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5E9-1", "PR:Q9Y5E9-1", "ENSEMBL:ENSP00000239449", "ENSEMBL:ENSP00000239449.4", "ENSEMBL:ENSP00000517204", "ENSEMBL:ENSP00000517204.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5F1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin beta-12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5F1-1", "PR:Q9Y5F1-1", "ENSEMBL:ENSP00000239450", "ENSEMBL:ENSP00000239450.2", "ENSEMBL:ENSP00000517202", "ENSEMBL:ENSP00000517202.1"], "information_content": 100.0}
{"id": "NCBIGene:83884", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A2", "equivalent_identifiers": ["NCBIGene:83884", "ENSEMBL:ENSG00000120329", "HGNC:22921", "OMIM:608157", "UMLS:C1427779", "UniProtKB:Q9BXI2", "PR:Q9BXI2", "ENSEMBL:ENSP00000239451", "ENSEMBL:ENSP00000239451.4", "UMLS:C1434664", "MESH:C488998"], "information_content": 100.0}
{"id": "UniProtKB:P54821-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paired mesoderm homeobox protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P54821-1", "PR:P54821-1", "ENSEMBL:ENSP00000239461", "ENSEMBL:ENSP00000239461.6"], "information_content": 100.0}
{"id": "MONDO:0060592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sweeney-Cox syndrome", "equivalent_identifiers": ["MONDO:0060592", "DOID:0080538", "OMIM:617746", "UMLS:C4540299", "medgen:1625659"], "information_content": 100.0}
{"id": "NCBIGene:63923", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNN", "equivalent_identifiers": ["NCBIGene:63923", "ENSEMBL:ENSG00000120332", "HGNC:22942", "OMIM:617472", "UMLS:C1427797", "UniProtKB:B3KXB6", "UMLS:C4077140", "MESH:C000602572", "UniProtKB:Q9UQP3", "PR:Q9UQP3", "ENSEMBL:ENSP00000239462", "ENSEMBL:ENSP00000239462.4"], "information_content": 90.9}
{"id": "UniProtKB:Q5EBL8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PDZ domain-containing protein 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5EBL8-1", "PR:Q5EBL8-1", "ENSEMBL:ENSP00000239666", "ENSEMBL:ENSP00000239666.4", "ENSEMBL:ENSP00000363578", "ENSEMBL:ENSP00000363578.1", "ENSEMBL:ENSP00000512017", "ENSEMBL:ENSP00000512017.1", "ENSEMBL:ENSP00000512018", "ENSEMBL:ENSP00000512018.1", "ENSEMBL:ENSP00000512019", "ENSEMBL:ENSP00000512019.1"], "information_content": 100.0}
{"id": "MONDO:0005975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "suppurative otitis media", "equivalent_identifiers": ["MONDO:0005975", "DOID:11506", "EFO:0007503", "UMLS:C0029888", "MESH:D010035", "MEDDRA:10033092", "MEDDRA:10033097", "MEDDRA:10046177", "SNOMEDCT:39288006", "medgen:10506", "icd11.foundation:1528565412", "ICD10:H66.4", "ICD9:382.4"], "information_content": 89.4}
{"id": "MONDO:0010284", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Armfield syndrome", "equivalent_identifiers": ["MONDO:0010284", "DOID:0050764", "OMIM:300261", "orphanet:85276", "UMLS:C1846057", "UMLS:C4305022", "MESH:C564551", "SNOMEDCT:719017003", "medgen:375800", "ICD10:Q87.8"], "information_content": 100.0}
{"id": "UniProtKB:Q96RS6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NudC domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RS6-1", "PR:Q96RS6-1", "ENSEMBL:ENSP00000239690", "ENSEMBL:ENSP00000239690.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BR77-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 77 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BR77-1", "PR:Q9BR77-1", "ENSEMBL:ENSP00000239830", "ENSEMBL:ENSP00000239830.4"], "information_content": 100.0}
{"id": "MONDO:0018216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0018216", "DOID:0050880", "orphanet:363958", "MESH:C566476", "SNOMEDCT:717338006"], "information_content": 100.0}
{"id": "UniProtKB:P32519-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS-related transcription factor Elf-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P32519-1", "PR:P32519-1", "ENSEMBL:ENSP00000239882", "ENSEMBL:ENSP00000239882.3"], "information_content": 100.0}
{"id": "MONDO:0012426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 25", "equivalent_identifiers": ["MONDO:0012426", "DOID:0060007", "DOID:0111942", "OMIM:610163", "UMLS:C1857798", "MESH:C565712", "medgen:346666"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y673-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dolichyl-phosphate beta-glucosyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y673-1", "PR:Q9Y673-1", "ENSEMBL:ENSP00000239891", "ENSEMBL:ENSP00000239891.3"], "information_content": 100.0}
{"id": "NCBIGene:9499", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYOT", "equivalent_identifiers": ["NCBIGene:9499", "ENSEMBL:ENSG00000120729", "HGNC:12399", "OMIM:604103", "UMLS:C1826332", "UniProtKB:A0A0C4DFM5", "ENSEMBL:ENSP00000239926", "ENSEMBL:ENSP00000239926.4", "UMLS:C3711770", "MESH:C577290", "UniProtKB:B4DT68", "ENSEMBL:ENSP00000426281", "ENSEMBL:ENSP00000426281.1", "UniProtKB:Q9UBF9", "PR:Q9UBF9"]}
{"id": "NCBIGene:1958", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EGR1", "equivalent_identifiers": ["NCBIGene:1958", "ENSEMBL:ENSG00000120738", "HGNC:3238", "OMIM:128990", "UMLS:C1414314", "UniProtKB:P18146", "PR:P18146", "ENSEMBL:ENSP00000239938", "ENSEMBL:ENSP00000239938.4", "UMLS:C1447045", "MESH:C497325", "UniProtKB:Q546S1"], "information_content": 88.2}
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{"id": "MONDO:0014438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 10", "equivalent_identifiers": ["MONDO:0014438", "DOID:0110132", "OMIM:615987", "EFO:0009022", "UMLS:C1859568", "MESH:C565919", "medgen:347909"], "information_content": 100.0}
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{"id": "UniProtKB:Q9NPG1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "frizzled-3 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9NPG1-1", "PR:Q9NPG1-1", "ENSEMBL:ENSP00000240093", "ENSEMBL:ENSP00000240093.3", "ENSEMBL:ENSP00000437489", "ENSEMBL:ENSP00000437489.1"], "information_content": 100.0}
{"id": "MONDO:0004630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "substance-induced psychosis", "equivalent_identifiers": ["MONDO:0004630", "DOID:8646", "UMLS:C0033941", "UMLS:C0154334", "medgen:18746", "ICD9:293.89"], "information_content": 95.4}
{"id": "UniProtKB:Q13115-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein phosphatase 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13115-1", "PR:Q13115-1", "ENSEMBL:ENSP00000240100", "ENSEMBL:ENSP00000240100.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13148-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TAR DNA-binding protein 43 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13148-1", "PR:Q13148-1", "ENSEMBL:ENSP00000240185", "ENSEMBL:ENSP00000240185.4", "ENSEMBL:ENSP00000491203", "ENSEMBL:ENSP00000491203.1"], "information_content": 100.0}
{"id": "MONDO:0000678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "simultanagnosia", "equivalent_identifiers": ["MONDO:0000678", "DOID:0060148", "UMLS:C2827429", "MEDDRA:10082795", "NCIT:C84395", "medgen:415993", "icd11.foundation:1669328667"], "information_content": 95.4}
{"id": "MONDO:0005773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gerstmann syndrome", "equivalent_identifiers": ["MONDO:0005773", "DOID:4969", "orphanet:221117", "EFO:0007285", "UMLS:C0017494", "MESH:D005862", "MEDDRA:10048608", "SNOMEDCT:36785009", "medgen:42208", "icd11.foundation:1121787098"], "information_content": 100.0}
{"id": "MONDO:0000685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "visual agnosia", "equivalent_identifiers": ["MONDO:0000685", "DOID:0060155", "UMLS:C0234502", "UMLS:C2930796", "MESH:C531604", "MEDDRA:10077168", "NCIT:C35276", "SNOMEDCT:25762009", "medgen:115959", "HP:0030222"], "information_content": 85.5}
{"id": "MONDO:0000671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "finger agnosia", "equivalent_identifiers": ["MONDO:0000671", "DOID:0060141", "UMLS:C0234509", "SNOMEDCT:3449007", "medgen:115960", "HP:0010525"], "information_content": 95.4}
{"id": "MONDO:0000663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anosognosia", "equivalent_identifiers": ["MONDO:0000663", "DOID:0060133", "UMLS:C0233824", "UMLS:C0234507", "MEDDRA:10068346", "SNOMEDCT:20930002", "SNOMEDCT:24340004", "medgen:536043", "icd11.foundation:833222383", "HP:0000757"], "information_content": 100.0}
{"id": "MONDO:0000676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phonagnosia", "equivalent_identifiers": ["MONDO:0000676", "DOID:0060146"], "information_content": 100.0}
{"id": "NCBIGene:65122", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF2", "equivalent_identifiers": ["NCBIGene:65122", "ENSEMBL:ENSG00000120952", "HGNC:28841", "UMLS:C1826674", "UniProtKB:O60811", "PR:O60811", "ENSEMBL:ENSP00000240189", "ENSEMBL:ENSP00000240189.2", "ENSEMBL:ENSP00000487743", "ENSEMBL:ENSP00000487743.1"], "information_content": 100.0}
{"id": "NCBIGene:157506", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RDH10", "equivalent_identifiers": ["NCBIGene:157506", "ENSEMBL:ENSG00000121039", "HGNC:19975", "OMIM:607599", "UMLS:C1426576", "UniProtKB:Q8IZV5", "PR:Q8IZV5", "ENSEMBL:ENSP00000240285", "ENSEMBL:ENSP00000240285.5", "UMLS:C1434382"], "information_content": 92.8}
{"id": "UniProtKB:Q92988-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein DLX-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92988-1", "PR:Q92988-1", "ENSEMBL:ENSP00000240306", "ENSEMBL:ENSP00000240306.3"], "information_content": 100.0}
{"id": "MONDO:0014772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 15", "equivalent_identifiers": ["MONDO:0014772", "DOID:0080408", "OMIM:616788", "UMLS:C4225209", "medgen:909661"], "information_content": 100.0}
{"id": "NCBIGene:8161", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COIL", "equivalent_identifiers": ["NCBIGene:8161", "ENSEMBL:ENSG00000121058", "HGNC:2184", "OMIM:600272", "UMLS:C1413568", "UniProtKB:P38432", "PR:P38432", "ENSEMBL:ENSP00000240316", "ENSEMBL:ENSP00000240316.4", "UMLS:C1738240"], "information_content": 92.8}
{"id": "NCBIGene:6909", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBX2", "equivalent_identifiers": ["NCBIGene:6909", "ENSEMBL:ENSG00000121068", "HGNC:11597", "OMIM:600747", "UMLS:C1420608", "UniProtKB:Q13207", "PR:Q13207", "ENSEMBL:ENSP00000240328", "ENSEMBL:ENSP00000240328.3", "UMLS:C1737946"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWB6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive serine/threonine-protein kinase TEX14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWB6-1", "PR:Q8IWB6-1", "ENSEMBL:ENSP00000240361", "ENSEMBL:ENSP00000240361.8"], "information_content": 100.0}
{"id": "UniProtKB:Q15003-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "condensin complex subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15003-1", "PR:Q15003-1", "ENSEMBL:ENSP00000240423", "ENSEMBL:ENSP00000240423.4"], "information_content": 100.0}
{"id": "NCBIGene:84057", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MND1", "equivalent_identifiers": ["NCBIGene:84057", "ENSEMBL:ENSG00000121211", "HGNC:24839", "OMIM:611422", "UMLS:C1826262", "UniProtKB:A0A087WTC6", "ENSEMBL:ENSP00000477758", "ENSEMBL:ENSP00000477758.1", "UMLS:C1721794", "MESH:C510357", "UniProtKB:D6RIA0", "ENSEMBL:ENSP00000427559", "ENSEMBL:ENSP00000427559.1", "UniProtKB:Q9BWT6", "PR:Q9BWT6", "ENSEMBL:ENSP00000240488", "ENSEMBL:ENSP00000240488.3"], "information_content": 95.4}
{"id": "NCBIGene:7700", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF141", "equivalent_identifiers": ["NCBIGene:7700", "ENSEMBL:ENSG00000131127", "HGNC:12926", "OMIM:194648", "UMLS:C1421633", "UniProtKB:D6RIY0", "ENSEMBL:ENSP00000425799", "ENSEMBL:ENSP00000425799.1", "UMLS:C3657480", "MESH:C581066", "UniProtKB:Q15928", "PR:Q15928", "ENSEMBL:ENSP00000240499", "ENSEMBL:ENSP00000240499.7", "UniProtKB:Q4W5N2"], "information_content": 100.0}
{"id": "MONDO:0008684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolf-Hirschhorn syndrome", "equivalent_identifiers": ["MONDO:0008684", "DOID:0050460", "OMIM:194190", "orphanet:280", "UMLS:C0796117", "UMLS:C0796202", "UMLS:C1956097", "MESH:C536737", "MESH:D054877", "MEDDRA:10050361", "NCIT:C35528", "SNOMEDCT:17122004", "SNOMEDCT:718226002", "medgen:408255", "icd11.foundation:1337401724", "ICD10:Q93.3"], "information_content": 92.8}
{"id": "MONDO:0007615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laurin-Sandrow syndrome", "equivalent_identifiers": ["MONDO:0007615", "DOID:0111350", "OMIM:135750", "orphanet:2378", "UMLS:C1851100", "UMLS:C1851101", "UMLS:C5700308", "MESH:C535689", "SNOMEDCT:1255267007", "SNOMEDCT:715440003", "medgen:340697", "icd11.foundation:671594481", "HP:0010689"], "information_content": 92.8}
{"id": "MONDO:0009350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Holzgreve-Wagner-Rehder syndrome", "equivalent_identifiers": ["MONDO:0009350", "DOID:0060566", "OMIM:236110", "orphanet:2167", "UMLS:C1856095", "MESH:C535327", "SNOMEDCT:783159001", "medgen:344650"], "information_content": 100.0}
{"id": "MONDO:0004026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin tag", "equivalent_identifiers": ["MONDO:0004026", "DOID:6873", "UMLS:C0037293", "UMLS:C1384410", "UMLS:C5886749", "MEDDRA:10000591", "MEDDRA:10040928", "MEDDRA:10060716", "NCIT:C3374", "NCIT:C8311", "SNOMEDCT:201091002", "SNOMEDCT:31069005", "SNOMEDCT:80801001", "medgen:11452", "HP:0010609"], "information_content": 95.4}
{"id": "NCBIGene:57616", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSHZ3", "equivalent_identifiers": ["NCBIGene:57616", "ENSEMBL:ENSG00000121297", "HGNC:30700", "OMIM:614119", "UMLS:C1823516", "UniProtKB:Q63HK5", "PR:Q63HK5", "ENSEMBL:ENSP00000240587", "ENSEMBL:ENSP00000240587.4", "UMLS:C3657618", "MESH:C580600"], "information_content": 95.4}
{"id": "UniProtKB:P26718-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NKG2-D type II integral membrane protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P26718-1", "PR:P26718-1", "ENSEMBL:ENSP00000240618", "ENSEMBL:ENSP00000240618.6", "ENSEMBL:ENSP00000446003", "ENSEMBL:ENSP00000446003.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WU10-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WU10-1", "PR:Q8WU10-1", "ENSEMBL:ENSP00000240651", "ENSEMBL:ENSP00000240651.9"], "information_content": 100.0}
{"id": "MONDO:0009181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 5B, with muscular dystrophy", "equivalent_identifiers": ["MONDO:0009181", "DOID:0090017", "OMIM:226670", "orphanet:257", "UMLS:C2931072", "MESH:C535955", "SNOMEDCT:723308003", "medgen:418981"], "information_content": 100.0}
{"id": "MONDO:0007211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly-arterial hypertension syndrome", "equivalent_identifiers": ["MONDO:0007211", "DOID:0111247", "OMIM:112410", "orphanet:1276", "UMLS:C1862170", "MESH:C537095", "SNOMEDCT:720568003", "medgen:349445"], "information_content": 100.0}
{"id": "NCBIGene:3375", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IAPP", "equivalent_identifiers": ["NCBIGene:3375", "ENSEMBL:ENSG00000121351", "HGNC:5329", "OMIM:147940", "UMLS:C1415831", "UniProtKB:P10997", "PR:P10997", "ENSEMBL:ENSP00000240652", "ENSEMBL:ENSP00000240652.3", "ENSEMBL:ENSP00000437357", "ENSEMBL:ENSP00000437357.1", "UMLS:C3813125"], "information_content": 100.0}
{"id": "UniProtKB:Q92734-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein TFG isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92734-1", "PR:Q92734-1", "ENSEMBL:ENSP00000240851", "ENSEMBL:ENSP00000240851.4", "ENSEMBL:ENSP00000419960", "ENSEMBL:ENSP00000419960.1", "ENSEMBL:ENSP00000420797", "ENSEMBL:ENSP00000420797.2", "ENSEMBL:ENSP00000501815", "ENSEMBL:ENSP00000501815.1", "ENSEMBL:ENSP00000502071", "ENSEMBL:ENSP00000502071.1", "ENSEMBL:ENSP00000502450", "ENSEMBL:ENSP00000502450.1", "ENSEMBL:ENSP00000502592", "ENSEMBL:ENSP00000502592.1", "ENSEMBL:ENSP00000502734", "ENSEMBL:ENSP00000502734.1"], "information_content": 100.0}
{"id": "MONDO:0006722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dental fluorosis", "equivalent_identifiers": ["MONDO:0006722", "DOID:13711", "EFO:1000892", "UMLS:C0026618", "MESH:D009050", "MEDDRA:10014578", "MEDDRA:10016819", "MEDDRA:10028011", "MEDDRA:10028012", "MEDDRA:10043177", "MEDDRA:10043178", "NCIT:C85059", "SNOMEDCT:120541000119103", "SNOMEDCT:30265004", "medgen:44506", "ICD10:K00.3", "ICD9:520.3"], "information_content": 100.0}
{"id": "MONDO:0010183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic aciduria and homocystinuria type cblF", "equivalent_identifiers": ["MONDO:0010183", "DOID:0050717", "OMIM:277380", "orphanet:79284", "UMLS:C0268591", "UMLS:C1848578", "MESH:C564747", "NCIT:C183525", "SNOMEDCT:4409006", "SNOMEDCT:80887004", "medgen:336373"], "information_content": 100.0}
{"id": "UniProtKB:O60229-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kalirin isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:O60229-2", "PR:O60229-2", "ENSEMBL:ENSP00000240874", "ENSEMBL:ENSP00000240874.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZZ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-alpha-acetyltransferase 50 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZZ1-1", "PR:Q9GZZ1-1", "ENSEMBL:ENSP00000240922", "ENSEMBL:ENSP00000240922.2"], "information_content": 100.0}
{"id": "NCBIGene:9479", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAPK8IP1", "equivalent_identifiers": ["NCBIGene:9479", "ENSEMBL:ENSG00000121653", "HGNC:6882", "OMIM:604641", "UMLS:C1417024", "UniProtKB:Q6NUQ9", "UMLS:C1454097", "MESH:C490666", "UniProtKB:Q9UQF2", "PR:Q9UQF2", "ENSEMBL:ENSP00000241014", "ENSEMBL:ENSP00000241014.2"], "information_content": 92.8}
{"id": "MONDO:0002968", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphocele", "equivalent_identifiers": ["MONDO:0002968", "DOID:4347", "UMLS:C0024248", "MESH:D008210", "MEDDRA:10048642", "MEDDRA:10052356", "NCIT:C78442", "SNOMEDCT:12167004", "SNOMEDCT:234109007", "SNOMEDCT:234110002", "medgen:7414", "icd11.foundation:1806199285"], "information_content": 95.4}
{"id": "MONDO:0001402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vaginal cancer", "equivalent_identifiers": ["MONDO:0001402", "DOID:119", "UMLS:C0042237", "MESH:D014625", "MEDDRA:10007120", "MEDDRA:10026620", "MEDDRA:10046885", "MEDDRA:10046888", "MEDDRA:10046896", "MEDDRA:10046925", "NCIT:C7410", "SNOMEDCT:363445000", "medgen:12040", "ICD10:C52", "ICD9:184.0"], "information_content": 71.2}
{"id": "MONDO:0002706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervix endometriosis", "equivalent_identifiers": ["MONDO:0002706", "DOID:361", "UMLS:C0269107", "MEDDRA:10083458", "NCIT:C27623", "SNOMEDCT:61640006", "medgen:78705", "HP:0012889"], "information_content": 100.0}
{"id": "MONDO:0002928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carcinosarcoma", "equivalent_identifiers": ["MONDO:0002928", "DOID:4236", "EFO:1001371", "UMLS:C0007140", "UMLS:C0206627", "UMLS:C1334603", "MESH:D002296", "MESH:D018199", "MESH:D018200", "NCIT:C34448", "NCIT:C3730", "NCIT:C8975", "SNOMEDCT:112684005", "SNOMEDCT:63264007", "medgen:2876"], "information_content": 70.2}
{"id": "MONDO:0000751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical polyp", "equivalent_identifiers": ["MONDO:0000751", "DOID:0060325", "EFO:0009475", "UMLS:C0007855", "UMLS:C0007873", "UMLS:C0153996", "UMLS:C0347493", "MESH:D002583", "MEDDRA:10008225", "MEDDRA:10008290", "MEDDRA:10008297", "MEDDRA:10008320", "MEDDRA:10008338", "MEDDRA:10008354", "MEDDRA:10028986", "MEDDRA:10029103", "MEDDRA:10029109", "MEDDRA:10036124", "MEDDRA:10036125", "NCIT:C2939", "SNOMEDCT:123841004", "SNOMEDCT:255196008", "SNOMEDCT:65576009", "medgen:507540", "ICD10:D26.9", "ICD9:219", "HP:0030159"], "information_content": 90.9}
{"id": "UniProtKB:Q9Y5Y5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal membrane protein PEX16 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5Y5-2", "PR:Q9Y5Y5-2", "ENSEMBL:ENSP00000241041", "ENSEMBL:ENSP00000241041.3"], "information_content": 100.0}
{"id": "MONDO:0011101", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 1B", "equivalent_identifiers": ["MONDO:0011101", "DOID:0050444", "DOID:0081240", "OMIM:601539", "UMLS:C0282527", "UMLS:C4723746", "MESH:D052919", "NCIT:C155749", "NCIT:C84789", "SNOMEDCT:238062008", "medgen:79470", "ICD10:G60.1"], "information_content": 100.0}
{"id": "MONDO:0013943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 8B", "equivalent_identifiers": ["MONDO:0013943", "DOID:0081437", "OMIM:614877", "UMLS:C3553960", "NCIT:C155763", "medgen:766874"], "information_content": 100.0}
{"id": "MONDO:0013681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-methylacyl-CoA racemase deficiency", "equivalent_identifiers": ["MONDO:0013681", "DOID:0060602", "OMIM:614307", "EFO:1001980", "UMLS:C3280428", "MESH:C565768", "NCIT:C119677", "SNOMEDCT:700463002", "medgen:482058"], "information_content": 95.4}
{"id": "MONDO:0018953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parietal foramina", "equivalent_identifiers": ["MONDO:0018953", "DOID:0060285", "OMIM.PS:168500", "orphanet:60015", "UMLS:C1868598", "MESH:C566826", "SNOMEDCT:718099006", "icd11.foundation:905361904", "HP:0004423"], "information_content": 90.9}
{"id": "UniProtKB:Q96QD5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DEP domain-containing protein 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QD5-1", "PR:Q96QD5-1", "ENSEMBL:ENSP00000241051", "ENSEMBL:ENSP00000241051.3"], "information_content": 100.0}
{"id": "MONDO:0000669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "color agnosia", "equivalent_identifiers": ["MONDO:0000669", "DOID:0060139"], "information_content": 100.0}
{"id": "NCBIGene:847", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAT", "equivalent_identifiers": ["NCBIGene:847", "ENSEMBL:ENSG00000121691", "HGNC:1516", "OMIM:115500", "UMLS:C1413138", "UniProtKB:A0A384P5Q0", "UniProtKB:P04040", "PR:P04040", "ENSEMBL:ENSP00000241052", "ENSEMBL:ENSP00000241052.4", "UMLS:C3530118", "MESH:C577219"], "information_content": 88.2}
{"id": "MONDO:0013571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acatalasia", "equivalent_identifiers": ["MONDO:0013571", "DOID:2582", "OMIM:614097", "orphanet:926", "EFO:0004144", "UMLS:C0268419", "UMLS:C2931868", "MESH:D020642", "MEDDRA:10086141", "MEDDRA:10086151", "MEDDRA:10086152", "NCIT:C84526", "SNOMEDCT:124202004", "SNOMEDCT:267454002", "medgen:75679"], "information_content": 100.0}
{"id": "NCBIGene:2700", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJA3", "equivalent_identifiers": ["NCBIGene:2700", "ENSEMBL:ENSG00000121743", "HGNC:4277", "OMIM:121015", "UMLS:C1415071", "UniProtKB:Q9Y6H8", "PR:Q9Y6H8", "ENSEMBL:ENSP00000241125", "ENSEMBL:ENSP00000241125.3", "UMLS:C0110614", "MESH:C082917"], "information_content": 100.0}
{"id": "MONDO:0007510", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clouston syndrome", "equivalent_identifiers": ["MONDO:0007510", "DOID:14693", "OMIM:129500", "orphanet:189", "UMLS:C0162361", "MEDDRA:10073859", "MEDDRA:10073864", "SNOMEDCT:54209007", "medgen:56416", "HP:0007529"], "information_content": 100.0}
{"id": "MONDO:0001330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "presbyopia", "equivalent_identifiers": ["MONDO:0001330", "DOID:11638", "UMLS:C0033075", "MESH:D011305", "MEDDRA:10036628", "SNOMEDCT:41256004", "medgen:10912", "icd11.foundation:22794400", "ICD10:H52.4", "ICD9:367.4"], "information_content": 100.0}
{"id": "MONDO:0019629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sclerocornea", "equivalent_identifiers": ["MONDO:0019629", "DOID:0060252", "orphanet:91490", "UMLS:C1853235", "MESH:C565209", "MEDDRA:10089596", "medgen:344000", "icd11.foundation:995798428", "HP:0000647"], "information_content": 92.8}
{"id": "MONDO:0007852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma-deafness syndrome", "equivalent_identifiers": ["MONDO:0007852", "DOID:0111505", "OMIM:148350", "orphanet:2202", "UMLS:C1835672", "MESH:C536152", "SNOMEDCT:722203001", "medgen:332030"], "information_content": 100.0}
{"id": "MONDO:0010992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ayme-Gripp syndrome", "equivalent_identifiers": ["MONDO:0010992", "DOID:0111688", "OMIM:601088", "EFO:0009020", "UMLS:C1832812", "MESH:C563390", "medgen:371416"], "information_content": 100.0}
{"id": "MONDO:0009318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hallermann-Streiff syndrome", "equivalent_identifiers": ["MONDO:0009318", "DOID:4534", "OMIM:234100", "orphanet:2108", "UMLS:C0018522", "MESH:D006210", "NCIT:C84746", "SNOMEDCT:7903009", "medgen:5414"], "information_content": 95.4}
{"id": "MONDO:0007083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant palmoplantar keratoderma and congenital alopecia", "equivalent_identifiers": ["MONDO:0007083", "DOID:0111244", "OMIM:104100", "orphanet:1010", "UMLS:C4304669", "SNOMEDCT:719518004", "medgen:930338", "icd11.foundation:1745113656"], "information_content": 100.0}
{"id": "UniProtKB:Q92847-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "growth hormone secretagogue receptor type 1 isoform h1A (human)", "equivalent_identifiers": ["UniProtKB:Q92847-1", "PR:Q92847-1", "ENSEMBL:ENSP00000241256", "ENSEMBL:ENSP00000241256.2"], "information_content": 100.0}
{"id": "UniProtKB:P50591-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor ligand superfamily member 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50591-1", "PR:P50591-1", "ENSEMBL:ENSP00000241261", "ENSEMBL:ENSP00000241261.2"], "information_content": 100.0}
{"id": "NCBIGene:119587", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPXM2", "equivalent_identifiers": ["NCBIGene:119587", "ENSEMBL:ENSG00000121898", "HGNC:26977", "OMIM:617348", "UMLS:C1539135", "UniProtKB:B4DK28", "UniProtKB:Q8N436", "PR:Q8N436", "ENSEMBL:ENSP00000241305", "ENSEMBL:ENSP00000241305.3", "UMLS:C5226333", "MESH:C000654407"], "information_content": 92.8}
{"id": "MONDO:0032584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis", "equivalent_identifiers": ["MONDO:0032584", "DOID:0111662", "OMIM:618180", "orphanet:685067", "UMLS:C4748560", "medgen:1648329"], "information_content": 100.0}
{"id": "UniProtKB:P28161-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione S-transferase mu 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P28161-1", "PR:P28161-1", "ENSEMBL:ENSP00000241337", "ENSEMBL:ENSP00000241337.4"], "information_content": 100.0}
{"id": "UniProtKB:P0DMS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenosine receptor A3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P0DMS8-1", "PR:P0DMS8-1", "ENSEMBL:ENSP00000241356", "ENSEMBL:ENSP00000241356.4"], "information_content": 100.0}
{"id": "UniProtKB:P27037-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "activin receptor type-2A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P27037-1", "PR:P27037-1", "ENSEMBL:ENSP00000241416", "ENSEMBL:ENSP00000241416.7", "ENSEMBL:ENSP00000384338", "ENSEMBL:ENSP00000384338.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9UBT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA polymerase kappa isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBT6-1", "PR:Q9UBT6-1", "ENSEMBL:ENSP00000241436", "ENSEMBL:ENSP00000241436.4"], "information_content": 100.0}
{"id": "UniProtKB:P36888-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein kinase FLT3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P36888-1", "PR:P36888-1", "ENSEMBL:ENSP00000241453", "ENSEMBL:ENSP00000241453.7"], "information_content": 100.0}
{"id": "UniProtKB:Q96QD9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UAP56-interacting factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QD9-1", "PR:Q96QD9-1", "ENSEMBL:ENSP00000241502", "ENSEMBL:ENSP00000241502.3"], "information_content": 100.0}
{"id": "MONDO:0014583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 3A", "equivalent_identifiers": ["MONDO:0014583", "DOID:0110666", "OMIM:616321", "UMLS:C4225372", "medgen:898378"], "information_content": 100.0}
{"id": "MONDO:0010806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 13", "equivalent_identifiers": ["MONDO:0010806", "DOID:0110403", "OMIM:600059", "UMLS:C1838702", "MESH:C564008", "medgen:325486"], "information_content": 100.0}
{"id": "NCBIGene:4656", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYOG", "equivalent_identifiers": ["NCBIGene:4656", "ENSEMBL:ENSG00000122180", "HGNC:7612", "OMIM:159980", "UMLS:C1417575", "UniProtKB:P15173", "PR:P15173", "ENSEMBL:ENSP00000241651", "ENSEMBL:ENSP00000241651.4", "UMLS:C1608735", "MESH:C503799"], "information_content": 95.4}
{"id": "MONDO:0002848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skeletal muscle neoplasm", "equivalent_identifiers": ["MONDO:0002848", "DOID:4044", "UMLS:C1335971", "NCIT:C6514", "SNOMEDCT:699955004", "medgen:236817"], "information_content": 66.6}
{"id": "MONDO:0800437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carey-Fineman-Ziter syndrome 1", "equivalent_identifiers": ["MONDO:0800437", "DOID:0061115", "DOID:0080194", "OMIM:254940", "UMLS:C5676876", "MESH:C536102", "SNOMEDCT:429753001", "medgen:1804638"], "information_content": 100.0}
{"id": "NCBIGene:196", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AHR", "equivalent_identifiers": ["NCBIGene:196", "ENSEMBL:ENSG00000106546", "HGNC:348", "OMIM:600253", "UMLS:C0596123", "UniProtKB:P35869", "PR:P35869", "ENSEMBL:ENSP00000242057", "ENSEMBL:ENSP00000242057.4", "ENSEMBL:ENSP00000436466", "ENSEMBL:ENSP00000436466.1", "UMLS:C1312385", "MESH:C111235"], "information_content": 88.2}
{"id": "UniProtKB:Q3SYG4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein PTHB1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3SYG4-1", "PR:Q3SYG4-1", "ENSEMBL:ENSP00000242067", "ENSEMBL:ENSP00000242067.6"], "information_content": 100.0}
{"id": "MONDO:0009367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "McKusick-Kaufman syndrome", "equivalent_identifiers": ["MONDO:0009367", "DOID:0111255", "OMIM:236700", "orphanet:2473", "UMLS:C0948368", "MESH:C538159", "MEDDRA:10052312", "SNOMEDCT:702407009", "medgen:184924"], "information_content": 100.0}
{"id": "NCBIGene:654231", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OCM", "equivalent_identifiers": ["NCBIGene:654231", "ENSEMBL:ENSG00000122543", "HGNC:8105", "OMIM:164795", "UMLS:C1417929", "UniProtKB:P0CE72", "PR:P0CE72", "ENSEMBL:ENSP00000242104", "ENSEMBL:ENSP00000242104.5", "ENSEMBL:ENSP00000401365", "ENSEMBL:ENSP00000401365.1", "UMLS:C1609188"], "information_content": 100.0}
{"id": "NCBIGene:644150", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WIPF3", "equivalent_identifiers": ["NCBIGene:644150", "ENSEMBL:ENSG00000122574", "HGNC:22004", "OMIM:612432", "UMLS:C1823859", "UniProtKB:A0A0A0MSG0", "ENSEMBL:ENSP00000386790", "ENSEMBL:ENSP00000386790.1", "UniProtKB:A6NGB9", "PR:A6NGB9", "ENSEMBL:ENSP00000242140", "ENSEMBL:ENSP00000242140.6", "UMLS:C3254164", "MESH:C562194"], "information_content": 95.4}
{"id": "MONDO:0030913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 48", "equivalent_identifiers": ["MONDO:0030913", "DOID:0080235", "OMIM:617751", "orphanet:500159", "EFO:0009156", "UMLS:C4540321", "medgen:1619532"], "information_content": 100.0}
{"id": "NCBIGene:3204", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXA7", "equivalent_identifiers": ["NCBIGene:3204", "ENSEMBL:ENSG00000122592", "HGNC:5108", "OMIM:142950", "UMLS:C1415661", "UniProtKB:P31268", "PR:P31268", "ENSEMBL:ENSP00000242159", "ENSEMBL:ENSP00000242159.3", "UMLS:C1449197", "UMLS:C3642157", "MESH:C115962"], "information_content": 100.0}
{"id": "MONDO:0060549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay", "equivalent_identifiers": ["MONDO:0060549", "DOID:0112359", "OMIM:617641", "orphanet:656130", "UMLS:C4539968", "medgen:1612119"], "information_content": 100.0}
{"id": "NCBIGene:3624", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INHBA", "equivalent_identifiers": ["NCBIGene:3624", "ENSEMBL:ENSG00000122641", "HGNC:6066", "OMIM:147290", "UMLS:C1334131", "UniProtKB:A4D1W7", "UniProtKB:P08476", "PR:P08476", "ENSEMBL:ENSP00000242208", "ENSEMBL:ENSP00000242208.4", "ENSEMBL:ENSP00000397197", "ENSEMBL:ENSP00000397197.1", "ENSEMBL:ENSP00000490646", "ENSEMBL:ENSP00000490646.1", "UMLS:C1570131"], "information_content": 90.9}
{"id": "NCBIGene:10268", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAMP3", "equivalent_identifiers": ["NCBIGene:10268", "ENSEMBL:ENSG00000122679", "HGNC:9845", "OMIM:605155", "UMLS:C1419256", "UniProtKB:A4D2L1", "UMLS:C1570782", "MESH:C545504", "UniProtKB:O60896", "PR:O60896", "ENSEMBL:ENSP00000242249", "ENSEMBL:ENSP00000242249.4", "ENSEMBL:ENSP00000419012", "ENSEMBL:ENSP00000419012.1"], "information_content": 95.4}
{"id": "MONDO:0054696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 53", "equivalent_identifiers": ["MONDO:0054696", "DOID:0111992", "OMIM:617585", "orphanet:688594", "UMLS:C4539811", "medgen:1612104"], "information_content": 100.0}
{"id": "MONDO:0020849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 57", "equivalent_identifiers": ["MONDO:0020849", "DOID:0111952", "OMIM:618108", "UMLS:C4748212", "medgen:1648306"], "information_content": 100.0}
{"id": "NCBIGene:29960", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRM2", "equivalent_identifiers": ["NCBIGene:29960", "ENSEMBL:ENSG00000122687", "HGNC:16352", "OMIM:606906", "UMLS:C1424210", "UniProtKB:Q9UI43", "PR:Q9UI43", "ENSEMBL:ENSP00000242257", "ENSEMBL:ENSP00000242257.8", "ENSEMBL:ENSP00000392343", "ENSEMBL:ENSP00000392343.3", "UMLS:C1310481", "MESH:C454693", "UniProtKB:V9HWJ9"], "information_content": 92.8}
{"id": "MONDO:0013865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency", "equivalent_identifiers": ["MONDO:0013865", "DOID:0111480", "OMIM:614702", "orphanet:314637", "UMLS:C4749921", "SNOMEDCT:771478008", "medgen:1664257"], "information_content": 100.0}
{"id": "MONDO:0054742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 35", "equivalent_identifiers": ["MONDO:0054742", "DOID:0111464", "OMIM:617873", "UMLS:C4693466", "medgen:1639653"], "information_content": 100.0}
{"id": "NCBIGene:7291", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TWIST1", "equivalent_identifiers": ["NCBIGene:7291", "ENSEMBL:ENSG00000122691", "HGNC:12428", "OMIM:601622", "UMLS:C1421244", "UniProtKB:Q15672", "PR:Q15672", "ENSEMBL:ENSP00000242261", "ENSEMBL:ENSP00000242261.5", "UMLS:C0533325", "MESH:C103173"], "information_content": 100.0}
{"id": "UniProtKB:P09496-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "clathrin light chain A isoform Brain (human)", "equivalent_identifiers": ["UniProtKB:P09496-1", "PR:P09496-1", "ENSEMBL:ENSP00000242285", "ENSEMBL:ENSP00000242285.6"], "information_content": 100.0}
{"id": "NCBIGene:23349", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHF24", "equivalent_identifiers": ["NCBIGene:23349", "ENSEMBL:ENSG00000122733", "HGNC:29180", "OMIM:619928", "UMLS:C4085047", "UniProtKB:Q9UPV7", "PR:Q9UPV7", "ENSEMBL:ENSP00000242315", "ENSEMBL:ENSP00000242315.3", "UMLS:C5196796", "MESH:C000630133"], "information_content": 100.0}
{"id": "MONDO:0014836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2CC", "equivalent_identifiers": ["MONDO:0014836", "DOID:0110180", "OMIM:616924", "UMLS:C4310790", "medgen:934757"], "information_content": 100.0}
{"id": "MONDO:0010514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to moesin deficiency", "equivalent_identifiers": ["MONDO:0010514", "DOID:0112001", "OMIM:300988", "orphanet:504530", "UMLS:C5568123", "SNOMEDCT:1179285006", "medgen:1799546"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z2W4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger CCCH-type antiviral protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2W4-1", "PR:Q7Z2W4-1", "ENSEMBL:ENSP00000242351", "ENSEMBL:ENSP00000242351.5"], "information_content": 100.0}
{"id": "UniProtKB:P51857-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aldo-keto reductase family 1 member D1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51857-1", "PR:P51857-1", "ENSEMBL:ENSP00000242375", "ENSEMBL:ENSP00000242375.3"], "information_content": 100.0}
{"id": "MONDO:0008966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aagenaes syndrome", "equivalent_identifiers": ["MONDO:0008966", "DOID:6691", "OMIM:214900", "orphanet:1414", "UMLS:C0268314", "MESH:C535330", "NCIT:C35709", "SNOMEDCT:28724005", "medgen:78658"], "information_content": 100.0}
{"id": "MONDO:0010425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lisch epithelial corneal dystrophy", "equivalent_identifiers": ["MONDO:0010425", "DOID:0060450", "OMIM:620763", "orphanet:98955", "UMLS:C2749050", "MESH:C567588", "SNOMEDCT:724175002", "medgen:411737", "icd11.foundation:1571503165"], "information_content": 100.0}
{"id": "NCBIGene:50674", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEUROG3", "equivalent_identifiers": ["NCBIGene:50674", "ENSEMBL:ENSG00000122859", "HGNC:13806", "OMIM:604882", "UMLS:C1422205", "UniProtKB:Q9Y4Z2", "PR:Q9Y4Z2", "ENSEMBL:ENSP00000242462", "ENSEMBL:ENSP00000242462.4", "UMLS:C1505374", "MESH:C498695"], "information_content": 100.0}
{"id": "MONDO:0010961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obesity due to prohormone convertase I deficiency", "equivalent_identifiers": ["MONDO:0010961", "DOID:0111698", "OMIM:600955", "orphanet:71528", "UMLS:C1833053", "UMLS:C4302878", "MESH:C563423", "SNOMEDCT:722053001", "medgen:318777"], "information_content": 100.0}
{"id": "MONDO:0010802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic hypoplasia-diabetes-congenital heart disease syndrome", "equivalent_identifiers": ["MONDO:0010802", "DOID:0111733", "OMIM:600001", "orphanet:2255", "UMLS:C2931296", "MESH:C536714", "MESH:C564011", "SNOMEDCT:722206009", "medgen:444022"], "information_content": 100.0}
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{"id": "UniProtKB:P11161-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 SUMO-protein ligase EGR2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P11161-1", "PR:P11161-1", "ENSEMBL:ENSP00000242480", "ENSEMBL:ENSP00000242480.3", "ENSEMBL:ENSP00000490154", "ENSEMBL:ENSP00000490154.2"], "information_content": 100.0}
{"id": "MONDO:0012198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PCWH syndrome", "equivalent_identifiers": ["MONDO:0012198", "DOID:0090111", "OMIM:609136", "orphanet:163746", "UMLS:C1836727", "MESH:C563789", "SNOMEDCT:765325002", "medgen:373160"], "information_content": 100.0}
{"id": "UniProtKB:Q96BN6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "primary cilium assembly protein FAM149B1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BN6-1", "PR:Q96BN6-1", "ENSEMBL:ENSP00000242505", "ENSEMBL:ENSP00000242505.6"], "information_content": 100.0}
{"id": "MONDO:0018772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome", "equivalent_identifiers": ["MONDO:0018772", "DOID:0050777", "OMIM.PS:213300", "orphanet:475", "UMLS:C0431399", "UMLS:C5437781", "MESH:C536293", "MEDDRA:10078574", "NCIT:C74996", "SNOMEDCT:253175003", "SNOMEDCT:716997004", "SNOMEDCT:890430009", "medgen:98464", "icd11.foundation:1414756318", "HP:0002335"], "information_content": 75.5}
{"id": "MONDO:0015004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dystonia 28", "equivalent_identifiers": ["MONDO:0015004", "DOID:0060936", "OMIM:617284", "orphanet:589618", "EFO:0009301", "UMLS:C4310633", "SNOMEDCT:1281844004", "medgen:934600", "ICD10:G24.8"], "information_content": 100.0}
{"id": "MONDO:0007959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "medulloblastoma", "equivalent_identifiers": ["MONDO:0007959", "DOID:0050902", "DOID:0060104", "OMIM:155255", "orphanet:616", "EFO:0002939", "UMLS:C0025149", "UMLS:C1334410", "UMLS:C5774316", "MESH:D008527", "MEDDRA:10027107", "NCIT:C27294", "NCIT:C3222", "SNOMEDCT:1156923005", "SNOMEDCT:443333004", "SNOMEDCT:83217000", "medgen:7517", "icd11.foundation:290815825", "HP:0002885"], "information_content": 70.8}
{"id": "UniProtKB:P13051-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uracil-DNA glycosylase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P13051-1", "PR:P13051-1", "ENSEMBL:ENSP00000242576", "ENSEMBL:ENSP00000242576.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WYA0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 81 homolog isoform CDV-1R (human)", "equivalent_identifiers": ["UniProtKB:Q8WYA0-1", "PR:Q8WYA0-1", "ENSEMBL:ENSP00000242591", "ENSEMBL:ENSP00000242591.5", "ENSEMBL:ENSP00000449718", "ENSEMBL:ENSP00000449718.1"], "information_content": 100.0}
{"id": "MONDO:0009744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 1", "equivalent_identifiers": ["MONDO:0009744", "DOID:0110721", "OMIM:256730", "orphanet:228329", "UMLS:C1850451", "MESH:C564953", "NCIT:C85861", "SNOMEDCT:720830009", "medgen:340540"], "information_content": 100.0}
{"id": "MONDO:0010310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteopathia striata with cranial sclerosis", "equivalent_identifiers": ["MONDO:0010310", "DOID:0060886", "OMIM:300373", "orphanet:2780", "UMLS:C0432268", "MESH:C536053", "SNOMEDCT:254129003", "medgen:96590"], "information_content": 100.0}
{"id": "NCBIGene:35", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACADS", "equivalent_identifiers": ["NCBIGene:35", "ENSEMBL:ENSG00000122971", "HGNC:90", "OMIM:606885", "UMLS:C1412108", "UniProtKB:B4DUH1", "UniProtKB:E5KSD5", "UniProtKB:E9PE82", "ENSEMBL:ENSP00000401045", "ENSEMBL:ENSP00000401045.2", "UniProtKB:P16219", "PR:P16219", "ENSEMBL:ENSP00000242592", "ENSEMBL:ENSP00000242592.4", "UMLS:C2826550"], "information_content": 92.8}
{"id": "NCBIGene:26994", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF11", "equivalent_identifiers": ["NCBIGene:26994", "ENSEMBL:ENSG00000123091", "HGNC:10056", "OMIM:612598", "UMLS:C1335629", "UniProtKB:Q9Y3C5", "PR:Q9Y3C5", "ENSEMBL:ENSP00000242719", "ENSEMBL:ENSP00000242719.3", "UMLS:C1312851", "MESH:C404508"], "information_content": 95.4}
{"id": "NCBIGene:79365", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BHLHE41", "equivalent_identifiers": ["NCBIGene:79365", "ENSEMBL:ENSG00000123095", "HGNC:16617", "OMIM:606200", "UMLS:C1424440", "UniProtKB:Q8TAT1", "UniProtKB:Q9C0J9", "PR:Q9C0J9", "ENSEMBL:ENSP00000242728", "ENSEMBL:ENSP00000242728.4", "UMLS:C0964850", "MESH:C422085"], "information_content": 100.0}
{"id": "UniProtKB:Q14714-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sarcospan isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14714-1", "PR:Q14714-1", "ENSEMBL:ENSP00000242729", "ENSEMBL:ENSP00000242729.2"], "information_content": 100.0}
{"id": "MONDO:0005761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "filarial elephantiasis", "equivalent_identifiers": ["MONDO:0005761", "DOID:12211", "orphanet:2035", "EFO:0007272", "UMLS:C0013884", "UMLS:C0155217", "MESH:D004605", "MEDDRA:10014473", "MEDDRA:10016675", "MEDDRA:10025229", "NCIT:C128360", "SNOMEDCT:14100003", "SNOMEDCT:240820001", "medgen:8583", "icd11.foundation:247221550"], "information_content": 100.0}
{"id": "MONDO:0019952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy", "equivalent_identifiers": ["MONDO:0019952", "DOID:0081337", "OMIM.PS:117000", "orphanet:97245", "UMLS:C0270960", "MEDDRA:10062547", "medgen:124381", "icd11.foundation:1185572073"], "information_content": 64.9}
{"id": "UniProtKB:O00148-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent RNA helicase DDX39A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00148-1", "PR:O00148-1", "ENSEMBL:ENSP00000242776", "ENSEMBL:ENSP00000242776.3"], "information_content": 100.0}
{"id": "NCBIGene:79002", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIR", "equivalent_identifiers": ["NCBIGene:79002", "ENSEMBL:ENSG00000123144", "HGNC:28424", "UMLS:C1824484", "UniProtKB:K7ELS0", "ENSEMBL:ENSP00000466196", "ENSEMBL:ENSP00000466196.1", "UniProtKB:K7EN60", "ENSEMBL:ENSP00000466801", "ENSEMBL:ENSP00000466801.1", "UniProtKB:Q9BQ61", "PR:Q9BQ61", "ENSEMBL:ENSP00000242784", "ENSEMBL:ENSP00000242784.3"], "information_content": 92.8}
{"id": "UniProtKB:P48960-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G protein-coupled receptor E5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48960-1", "PR:P48960-1", "ENSEMBL:ENSP00000242786", "ENSEMBL:ENSP00000242786.4"], "information_content": 100.0}
{"id": "NCBIGene:83446", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC70", "equivalent_identifiers": ["NCBIGene:83446", "ENSEMBL:ENSG00000123171", "HGNC:25303", "UMLS:C1824594", "UniProtKB:Q6NSX1", "PR:Q6NSX1", "ENSEMBL:ENSP00000242819", "ENSEMBL:ENSP00000242819.5"], "information_content": 100.0}
{"id": "MONDO:0011330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 10", "equivalent_identifiers": ["MONDO:0011330", "DOID:0050960", "OMIM:603516", "orphanet:98761", "UMLS:C1963674", "MESH:C566874", "SNOMEDCT:715754007", "medgen:369786", "icd11.foundation:157300879"], "information_content": 100.0}
{"id": "UniProtKB:Q9BY08-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "emopamil-binding protein-like isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY08-1", "PR:Q9BY08-1", "ENSEMBL:ENSP00000242827", "ENSEMBL:ENSP00000242827.6"], "information_content": 100.0}
{"id": "UniProtKB:P35670-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "copper-transporting ATPase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35670-1", "PR:P35670-1", "ENSEMBL:ENSP00000242839", "ENSEMBL:ENSP00000242839.5"], "information_content": 100.0}
{"id": "MONDO:0010572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "occipital horn syndrome", "equivalent_identifiers": ["MONDO:0010572", "DOID:0111272", "OMIM:304150", "orphanet:198", "UMLS:C0268353", "MESH:C537860", "SNOMEDCT:59399004", "medgen:82793"], "information_content": 100.0}
{"id": "MONDO:0006795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypersplenism", "equivalent_identifiers": ["MONDO:0006795", "DOID:6376", "EFO:1000975", "UMLS:C0020532", "MESH:D006971", "MEDDRA:10020769", "NCIT:C34714", "SNOMEDCT:58381000", "medgen:9372", "icd11.foundation:2093549625", "ICD10:D73.1", "ICD9:289.4", "HP:0001971"], "information_content": 89.4}
{"id": "MONDO:0003280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "swayback", "equivalent_identifiers": ["MONDO:0003280", "DOID:5112", "UMLS:C0024003", "UMLS:C0038981", "MESH:D008141", "MESH:D013540", "MEDDRA:10024842", "MEDDRA:10078028", "MEDDRA:10078166", "NCIT:C34787", "SNOMEDCT:1187290008", "SNOMEDCT:249710008", "SNOMEDCT:61960001", "HP:0003307"], "information_content": 89.4}
{"id": "UniProtKB:Q5T200-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger CCCH domain-containing protein 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T200-1", "PR:Q5T200-1", "ENSEMBL:ENSP00000242848", "ENSEMBL:ENSP00000242848.4"], "information_content": 100.0}
{"id": "NCBIGene:58158", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEUROD4", "equivalent_identifiers": ["NCBIGene:58158", "ENSEMBL:ENSG00000123307", "HGNC:13802", "OMIM:611635", "UMLS:C1422201", "UniProtKB:Q8IW56", "UniProtKB:Q9HD90", "PR:Q9HD90", "ENSEMBL:ENSP00000242994", "ENSEMBL:ENSP00000242994.3", "UMLS:C5575453"], "information_content": 100.0}
{"id": "NCBIGene:29095", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ORMDL2", "equivalent_identifiers": ["NCBIGene:29095", "ENSEMBL:ENSG00000123353", "HGNC:16037", "OMIM:610074", "UMLS:C1423929", "UniProtKB:Q53FV1", "PR:Q53FV1", "ENSEMBL:ENSP00000243045", "ENSEMBL:ENSP00000243045.5", "ENSEMBL:ENSP00000448788", "ENSEMBL:ENSP00000448788.1", "UMLS:C1142834", "MESH:C464279"], "information_content": 89.4}
{"id": "MONDO:0012024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 26", "equivalent_identifiers": ["MONDO:0012024", "DOID:0110368", "OMIM:608380", "UMLS:C1842127", "MESH:C564249", "medgen:333996"], "information_content": 100.0}
{"id": "MONDO:0011144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ceroid lipofuscinosis, neuronal, 6A", "equivalent_identifiers": ["MONDO:0011144", "DOID:0110729", "OMIM:601780", "orphanet:228363", "UMLS:C1866282", "UMLS:C5551375", "MESH:C566627", "medgen:1790423"], "information_content": 100.0}
{"id": "UniProtKB:Q01064-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B isoform hPDE1B1 (human)", "equivalent_identifiers": ["UniProtKB:Q01064-1", "PR:Q01064-1", "ENSEMBL:ENSP00000243052", "ENSEMBL:ENSP00000243052.3"], "information_content": 100.0}
{"id": "NCBIGene:3229", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXC13", "equivalent_identifiers": ["NCBIGene:3229", "ENSEMBL:ENSG00000123364", "HGNC:5125", "OMIM:142976", "UMLS:C1415677", "UniProtKB:P31276", "PR:P31276", "ENSEMBL:ENSP00000243056", "ENSEMBL:ENSP00000243056.3", "UMLS:C1439025", "UMLS:C3273502", "MESH:C410305"], "information_content": 100.0}
{"id": "MONDO:0011932", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 6", "equivalent_identifiers": ["MONDO:0011932", "DOID:0110703", "OMIM:607903", "UMLS:C1842839", "MESH:C564312", "medgen:335812"], "information_content": 100.0}
{"id": "MONDO:0008756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia - intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0008756", "DOID:0080627", "OMIM.PS:203650", "orphanet:2850", "UMLS:C2931280", "MESH:C536660", "SNOMEDCT:716191002", "medgen:444019"], "information_content": 89.4}
{"id": "MONDO:0011132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy", "equivalent_identifiers": ["MONDO:0011132", "DOID:0060769", "OMIM:601705", "orphanet:169095", "UMLS:C1866426", "MESH:C536781", "SNOMEDCT:720345008", "medgen:355713"], "information_content": 100.0}
{"id": "UniProtKB:Q07954-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prolow-density lipoprotein receptor-related protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q07954-1", "PR:Q07954-1", "ENSEMBL:ENSP00000243077", "ENSEMBL:ENSP00000243077.3"], "information_content": 100.0}
{"id": "MONDO:0005350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abdominal aortic aneurysm", "equivalent_identifiers": ["MONDO:0005350", "DOID:7693", "EFO:0004214", "UMLS:C0162871", "UMLS:C4025248", "MESH:D017544", "MEDDRA:10000051", "MEDDRA:10000054", "MEDDRA:10002338", "NCIT:C27000", "SNOMEDCT:233985008", "medgen:56524", "icd11.foundation:1154633768", "HP:0005112"], "information_content": 88.2}
{"id": "MONDO:0005396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thoracic aortic aneurysm", "equivalent_identifiers": ["MONDO:0005396", "DOID:14004", "EFO:0004282", "UMLS:C0162872", "UMLS:C4303697", "MESH:D017545", "MEDDRA:10043465", "NCIT:C27001", "SNOMEDCT:142111000119108", "SNOMEDCT:433068007", "medgen:56525", "icd11.foundation:1383534118", "HP:0012727"], "information_content": 84.2}
{"id": "MONDO:0019976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dementia pugilistica", "equivalent_identifiers": ["MONDO:0019976", "DOID:0081291", "orphanet:97353", "UMLS:C0149843", "UMLS:C0751813", "MESH:D020208", "SNOMEDCT:230283005", "medgen:508441"], "information_content": 100.0}
{"id": "NCBIGene:3228", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXC12", "equivalent_identifiers": ["NCBIGene:3228", "ENSEMBL:ENSG00000123407", "HGNC:5124", "OMIM:142975", "UMLS:C1415676", "UniProtKB:P31275", "PR:P31275", "ENSEMBL:ENSP00000243103", "ENSEMBL:ENSP00000243103.3"], "information_content": 100.0}
{"id": "MONDO:0019071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pure hair and nail ectodermal dysplasia", "equivalent_identifiers": ["MONDO:0019071", "DOID:0111655", "orphanet:69084", "UMLS:C1865951"], "information_content": 89.4}
{"id": "UniProtKB:P09630-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Hox-C6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P09630-1", "PR:P09630-1", "ENSEMBL:ENSP00000243108", "ENSEMBL:ENSP00000243108.4"], "information_content": 100.0}
{"id": "NCBIGene:2166", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAAH", "equivalent_identifiers": ["NCBIGene:2166", "ENSEMBL:ENSG00000117480", "HGNC:3553", "OMIM:602935", "UMLS:C1414512", "UniProtKB:O00519", "PR:O00519", "ENSEMBL:ENSP00000243167", "ENSEMBL:ENSP00000243167.8", "UMLS:C1742465"], "information_content": 95.4}
{"id": "UniProtKB:P61619-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein transport protein Sec61 subunit alpha isoform 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61619-1", "PR:P61619-1", "ENSEMBL:ENSP00000243253", "ENSEMBL:ENSP00000243253.3"], "information_content": 100.0}
{"id": "MONDO:0000327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Buruli Ulcer", "equivalent_identifiers": ["MONDO:0000327", "DOID:0050456", "UMLS:C0085568", "MESH:D054312", "MEDDRA:10066289", "MEDDRA:10066290", "NCIT:C84604", "SNOMEDCT:15845006", "medgen:43206", "ICD10:A31.1"], "information_content": 92.8}
{"id": "NCBIGene:51209", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB9B", "equivalent_identifiers": ["NCBIGene:51209", "ENSEMBL:ENSG00000123570", "HGNC:14090", "OMIM:300285", "UMLS:C1422400", "UniProtKB:Q9NP90", "PR:Q9NP90", "ENSEMBL:ENSP00000243298", "ENSEMBL:ENSP00000243298.2", "UMLS:C1455457", "MESH:C489803"], "information_content": 92.8}
{"id": "MONDO:0010714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelizeaus-Merzbacher spectrum disorder", "equivalent_identifiers": ["MONDO:0010714", "DOID:3210", "OMIM:312080", "orphanet:702", "UMLS:C0205711", "MESH:D020371", "MEDDRA:10067610", "NCIT:C75487", "SNOMEDCT:64855000", "medgen:61440", "icd11.foundation:1313582105", "HP:0003269"], "information_content": 88.2}
{"id": "UniProtKB:P43362", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAGA9_HUMAN Melanoma-associated antigen 9 (sprot)", "equivalent_identifiers": ["UniProtKB:P43362", "PR:P43362", "ENSEMBL:ENSP00000243314", "ENSEMBL:ENSP00000243314.5", "ENSEMBL:ENSP00000471017", "ENSEMBL:ENSP00000471017.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5UIP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "telomere-associated protein RIF1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5UIP0-1", "PR:Q5UIP0-1", "ENSEMBL:ENSP00000243326", "ENSEMBL:ENSP00000243326.4", "ENSEMBL:ENSP00000390181", "ENSEMBL:ENSP00000390181.2"], "information_content": 100.0}
{"id": "MONDO:0024772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, X-linked, syndromic, Pilorge type", "equivalent_identifiers": ["MONDO:0024772", "DOID:0070422", "OMIM:301076", "UMLS:C5676881", "medgen:1803486"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z4L5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetratricopeptide repeat protein 21B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4L5-1", "PR:Q7Z4L5-1", "ENSEMBL:ENSP00000243344", "ENSEMBL:ENSP00000243344.7", "ENSEMBL:ENSP00000506276", "ENSEMBL:ENSP00000506276.1", "ENSEMBL:ENSP00000506400", "ENSEMBL:ENSP00000506400.1"], "information_content": 100.0}
{"id": "NCBIGene:9111", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NMI", "equivalent_identifiers": ["NCBIGene:9111", "ENSEMBL:ENSG00000123609", "HGNC:7854", "OMIM:603525", "UMLS:C1334885", "UniProtKB:Q13287", "PR:Q13287", "ENSEMBL:ENSP00000243346", "ENSEMBL:ENSP00000243346.5", "UMLS:C1334888", "MESH:C099927"], "information_content": 89.4}
{"id": "NCBIGene:7130", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFAIP6", "equivalent_identifiers": ["NCBIGene:7130", "ENSEMBL:ENSG00000123610", "HGNC:11898", "OMIM:600410", "UMLS:C1420801", "UniProtKB:P98066", "PR:P98066", "ENSEMBL:ENSP00000243347", "ENSEMBL:ENSP00000243347.3", "UMLS:C0147117", "MESH:C072273"], "information_content": 95.4}
{"id": "MONDO:0000754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anal fistula", "equivalent_identifiers": ["MONDO:0000754", "DOID:0060328", "orphanet:228113", "UMLS:C0149889", "UMLS:C0205929", "MESH:D012003", "MEDDRA:10002156", "MEDDRA:10002645", "MEDDRA:10016718", "MEDDRA:10016721", "NCIT:C60785", "SNOMEDCT:72779005", "SNOMEDCT:786878009", "medgen:61482", "icd11.foundation:206903882", "ICD10:K60.3", "HP:0010447"], "information_content": 95.4}
{"id": "UniProtKB:Q8NER5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "activin receptor type-1C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NER5-1", "PR:Q8NER5-1", "ENSEMBL:ENSP00000243349", "ENSEMBL:ENSP00000243349.7"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z2H8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proton-coupled amino acid transporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2H8-1", "PR:Q7Z2H8-1", "ENSEMBL:ENSP00000243389", "ENSEMBL:ENSP00000243389.3", "ENSEMBL:ENSP00000428140", "ENSEMBL:ENSP00000428140.1"], "information_content": 100.0}
{"id": "NCBIGene:55509", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BATF3", "equivalent_identifiers": ["NCBIGene:55509", "ENSEMBL:ENSG00000123685", "HGNC:28915", "OMIM:612470", "UMLS:C2240205", "UniProtKB:Q9NR55", "PR:Q9NR55", "ENSEMBL:ENSP00000243440", "ENSEMBL:ENSP00000243440.1", "UMLS:C0916128", "MESH:C411483"], "information_content": 100.0}
{"id": "NCBIGene:3759", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNJ2", "equivalent_identifiers": ["NCBIGene:3759", "ENSEMBL:ENSG00000123700", "HGNC:6263", "OMIM:600681", "UMLS:C1416584", "UniProtKB:P63252", "PR:P63252", "ENSEMBL:ENSP00000243457", "ENSEMBL:ENSP00000243457.2", "ENSEMBL:ENSP00000441848", "ENSEMBL:ENSP00000441848.1", "UMLS:C1505202", "MESH:C489457"], "information_content": 92.8}
{"id": "MONDO:0012856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Birk-Barel syndrome", "equivalent_identifiers": ["MONDO:0012856", "DOID:0050675", "OMIM:612292", "orphanet:166108", "UMLS:C2676770", "MESH:C567357", "SNOMEDCT:764861005", "medgen:393583"], "information_content": 100.0}
{"id": "NCBIGene:6626", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNRPA", "equivalent_identifiers": ["NCBIGene:6626", "ENSEMBL:ENSG00000077312", "HGNC:11151", "OMIM:182285", "UMLS:C1420283", "UniProtKB:P09012", "PR:P09012", "ENSEMBL:ENSP00000243563", "ENSEMBL:ENSP00000243563.2", "UMLS:C1527620"], "information_content": 95.4}
{"id": "DOID:0070482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal neurofibromatosis", "equivalent_identifiers": ["DOID:0070482"]}
{"id": "MONDO:0012064", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0012064", "DOID:0080695", "OMIM:608572", "orphanet:1200", "UMLS:C1835913", "UMLS:C1837822", "MESH:C537411", "MESH:C563682", "SNOMEDCT:720640005", "medgen:325265"], "information_content": 100.0}
{"id": "NCBIGene:80776", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B9D2", "equivalent_identifiers": ["NCBIGene:80776", "ENSEMBL:ENSG00000123810", "HGNC:28636", "OMIM:611951", "UMLS:C2240202", "UniProtKB:Q9BPU9", "PR:Q9BPU9", "ENSEMBL:ENSP00000243578", "ENSEMBL:ENSP00000243578.2", "ENSEMBL:ENSP00000501911", "ENSEMBL:ENSP00000501911.1", "UMLS:C3812226"], "information_content": 95.4}
{"id": "UniProtKB:P20851-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C4b-binding protein beta chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20851-1", "PR:P20851-1", "ENSEMBL:ENSP00000243611", "ENSEMBL:ENSP00000243611.5", "ENSEMBL:ENSP00000356045", "ENSEMBL:ENSP00000356045.3", "ENSEMBL:ENSP00000375790", "ENSEMBL:ENSP00000375790.1"], "information_content": 100.0}
{"id": "NCBIGene:59348", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF350", "equivalent_identifiers": ["NCBIGene:59348", "ENSEMBL:ENSG00000256683", "HGNC:16656", "OMIM:605422", "UMLS:C1424471", "UniProtKB:Q9GZX5", "PR:Q9GZX5", "ENSEMBL:ENSP00000243644", "ENSEMBL:ENSP00000243644.3", "UMLS:C3275253", "MESH:C422407"], "information_content": 100.0}
{"id": "MONDO:0015871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign breast phyllodes tumor", "equivalent_identifiers": ["MONDO:0015871", "DOID:1631", "orphanet:180261", "UMLS:C1332533", "NCIT:C5196", "SNOMEDCT:720344007", "medgen:231438", "icd11.foundation:827143668", "ICD10:D48.6"], "information_content": 100.0}
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{"id": "NCBIGene:5266", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PI3", "equivalent_identifiers": ["NCBIGene:5266", "ENSEMBL:ENSG00000124102", "HGNC:8947", "OMIM:182257", "UMLS:C1418549", "UniProtKB:P19957", "PR:P19957", "ENSEMBL:ENSP00000243924", "ENSEMBL:ENSP00000243924.3", "UMLS:C0142580", "MESH:C506806"], "information_content": 90.9}
{"id": "NCBIGene:140686", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WFDC3", "equivalent_identifiers": ["NCBIGene:140686", "ENSEMBL:ENSG00000124116", "HGNC:15957", "UMLS:C1423861", "UniProtKB:Q8IUB2", "PR:Q8IUB2", "ENSEMBL:ENSP00000243938", "ENSEMBL:ENSP00000243938.4"], "information_content": 100.0}
{"id": "NCBIGene:514", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP5F1E", "equivalent_identifiers": ["NCBIGene:514", "ENSEMBL:ENSG00000124172", "HGNC:838", "OMIM:606153", "UMLS:C1412659", "UniProtKB:P56381", "PR:P56381", "ENSEMBL:ENSP00000243997", "ENSEMBL:ENSP00000243997.3", "ENSEMBL:ENSP00000379019", "ENSEMBL:ENSP00000379019.1", "ENSEMBL:ENSP00000379023", "ENSEMBL:ENSP00000379023.1", "UMLS:C3815864"], "information_content": 89.4}
{"id": "UniProtKB:P19174-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P19174-2", "PR:P19174-2", "ENSEMBL:ENSP00000244007", "ENSEMBL:ENSP00000244007.3", "ENSEMBL:ENSP00000508698", "ENSEMBL:ENSP00000508698.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13247-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/arginine-rich splicing factor 6 isoform hSRP55-1 (human)", "equivalent_identifiers": ["UniProtKB:Q13247-1", "PR:Q13247-1", "ENSEMBL:ENSP00000244020", "ENSEMBL:ENSP00000244020.3"], "information_content": 100.0}
{"id": "MONDO:0005648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic valve insufficiency", "equivalent_identifiers": ["MONDO:0005648", "DOID:57", "EFO:0007148", "UMLS:C0003504", "UMLS:C0155568", "MESH:D001022", "MEDDRA:10002898", "MEDDRA:10002904", "MEDDRA:10002915", "MEDDRA:10039045", "MEDDRA:10039046", "MEDDRA:10052839", "NCIT:C197951", "NCIT:C50861", "NCIT:C51223", "SNOMEDCT:60234000", "SNOMEDCT:78031003", "medgen:8153", "icd11.foundation:1548485475", "ICD10:I06.1", "ICD9:395.1", "HP:0001659"], "information_content": 92.8}
{"id": "MONDO:0005707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coccidiosis", "equivalent_identifiers": ["MONDO:0005707", "DOID:2113", "EFO:0007212", "UMLS:C0009187", "MESH:D003048", "MEDDRA:10009827", "NCIT:C34493", "SNOMEDCT:62005008", "medgen:3138"], "information_content": 85.5}
{"id": "NCBIGene:57403", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB22A", "equivalent_identifiers": ["NCBIGene:57403", "ENSEMBL:ENSG00000124209", "HGNC:9764", "OMIM:612966", "UMLS:C1419193", "UniProtKB:Q9UL26", "PR:Q9UL26", "ENSEMBL:ENSP00000244040", "ENSEMBL:ENSP00000244040.3", "UMLS:C1435826", "MESH:C484191"], "information_content": 92.8}
{"id": "NCBIGene:5740", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTGIS", "equivalent_identifiers": ["NCBIGene:5740", "ENSEMBL:ENSG00000124212", "HGNC:9603", "OMIM:601699", "UMLS:C1419071", "UniProtKB:Q16647", "PR:Q16647", "ENSEMBL:ENSP00000244043", "ENSEMBL:ENSP00000244043.3", "UMLS:C1257995", "MESH:C472456"], "information_content": 95.4}
{"id": "NCBIGene:6615", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNAI1", "equivalent_identifiers": ["NCBIGene:6615", "ENSEMBL:ENSG00000124216", "HGNC:11128", "OMIM:604238", "UMLS:C1420267", "UniProtKB:O95863", "PR:O95863", "ENSEMBL:ENSP00000244050", "ENSEMBL:ENSP00000244050.2", "UMLS:C2984122", "UMLS:C4308198", "MESH:C000604407"], "information_content": 92.8}
{"id": "NCBIGene:27304", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MOCS3", "equivalent_identifiers": ["NCBIGene:27304", "ENSEMBL:ENSG00000124217", "HGNC:15765", "OMIM:609277", "UMLS:C1423714", "UniProtKB:O95396", "PR:O95396", "ENSEMBL:ENSP00000244051", "ENSEMBL:ENSP00000244051.1", "UMLS:C1619897", "MESH:C502790"], "information_content": 89.4}
{"id": "MONDO:0020480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency", "equivalent_identifiers": ["MONDO:0020480", "DOID:0111165", "OMIM.PS:252150", "orphanet:99732", "UMLS:C0268119", "MESH:C535811", "MEDDRA:10069687", "NCIT:C129076", "SNOMEDCT:29692004", "medgen:75652", "icd11.foundation:819219337", "HP:0003570"], "information_content": 90.9}
{"id": "MONDO:0010089", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated sulfite oxidase deficiency", "equivalent_identifiers": ["MONDO:0010089", "DOID:0111270", "OMIM:272300", "orphanet:99731", "UMLS:C0268624", "MESH:C538141", "SNOMEDCT:367368009", "medgen:78695", "icd11.foundation:963607692", "HP:0003643"], "information_content": 100.0}
{"id": "MONDO:0001271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lens subluxation", "equivalent_identifiers": ["MONDO:0001271", "DOID:11364", "UMLS:C0023316", "MESH:D007906", "MEDDRA:10042408", "NCIT:C34772", "SNOMEDCT:65814009", "medgen:9718", "ICD10:H27.11", "ICD9:379.32", "HP:0001132"], "information_content": 92.8}
{"id": "UniProtKB:Q9Y508-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF114 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y508-1", "PR:Q9Y508-1", "ENSEMBL:ENSP00000244061", "ENSEMBL:ENSP00000244061.2"], "information_content": 100.0}
{"id": "MONDO:0011849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psoriatic arthritis", "equivalent_identifiers": ["MONDO:0011849", "DOID:9008", "EFO:0003778", "UMLS:C0003872", "MESH:D015535", "MEDDRA:10003377", "MEDDRA:10037160", "MEDDRA:10037162", "MEDDRA:10037163", "NCIT:C61277", "SNOMEDCT:156370009", "medgen:2077", "icd11.foundation:868183264", "ICD10:L40.5", "ICD9:696.0"], "information_content": 90.9}
{"id": "NCBIGene:4109", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEA10", "equivalent_identifiers": ["NCBIGene:4109", "ENSEMBL:ENSG00000124260", "HGNC:6797", "OMIM:300343", "UMLS:C1416971", "UniProtKB:B2RAE8", "UniProtKB:P43363", "PR:P43363", "ENSEMBL:ENSP00000244096", "ENSEMBL:ENSP00000244096.3", "ENSEMBL:ENSP00000359347", "ENSEMBL:ENSP00000359347.4", "UMLS:C0908452", "MESH:C121012"], "information_content": 100.0}
{"id": "MONDO:0010434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "synovial sarcoma", "equivalent_identifiers": ["MONDO:0010434", "DOID:5485", "OMIM:300813", "orphanet:3273", "EFO:0001376", "UMLS:C0039101", "MESH:D013584", "MEDDRA:10042863", "MEDDRA:10042866", "MEDDRA:10069062", "NCIT:C3400", "SNOMEDCT:302851001", "SNOMEDCT:63211008", "medgen:21050", "HP:0012570"], "information_content": 75.7}
{"id": "UniProtKB:P12955-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Xaa-Pro dipeptidase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P12955-1", "PR:P12955-1", "ENSEMBL:ENSP00000244137", "ENSEMBL:ENSP00000244137.5"], "information_content": 100.0}
{"id": "MONDO:0008221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prolidase deficiency", "equivalent_identifiers": ["MONDO:0008221", "DOID:0111540", "OMIM:170100", "orphanet:742", "UMLS:C0268532", "MESH:D056732", "NCIT:C85029", "SNOMEDCT:360994007", "SNOMEDCT:410055005", "medgen:120647", "icd11.foundation:1416203271"], "information_content": 100.0}
{"id": "MONDO:0010224", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Proud Syndrome", "equivalent_identifiers": ["MONDO:0010224", "DOID:0112151", "OMIM:300004", "orphanet:2508", "UMLS:C0796124", "MESH:C563110", "SNOMEDCT:763797003", "medgen:163217"], "information_content": 100.0}
{"id": "MONDO:0010268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked lissencephaly with abnormal genitalia", "equivalent_identifiers": ["MONDO:0010268", "DOID:0112238", "OMIM:300215", "orphanet:452", "UMLS:C1846171", "UMLS:C1846172", "MESH:C564563", "SNOMEDCT:717632002", "medgen:375832"], "information_content": 100.0}
{"id": "UniProtKB:Q01113-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-9 receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01113-1", "PR:Q01113-1", "ENSEMBL:ENSP00000244174", "ENSEMBL:ENSP00000244174.5", "ENSEMBL:ENSP00000518617", "ENSEMBL:ENSP00000518617.1"], "information_content": 100.0}
{"id": "MONDO:0007481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leri-Weill dyschondrosteosis", "equivalent_identifiers": ["MONDO:0007481", "DOID:0060847", "OMIM:127300", "orphanet:240", "UMLS:C0265309", "MESH:C537119", "MEDDRA:10071437", "MEDDRA:10071439", "NCIT:C126560", "SNOMEDCT:17818006", "medgen:75562"], "information_content": 90.9}
{"id": "MONDO:0033304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nonsyndromic deafness, Y-linked", "equivalent_identifiers": ["MONDO:0033304", "DOID:0111757", "OMIM.PS:400043"], "information_content": 92.8}
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{"id": "UniProtKB:P62805", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H4_HUMAN Histone H4 (sprot)", "equivalent_identifiers": ["UniProtKB:P62805", "PR:P62805", "ENSEMBL:ENSP00000244537", "ENSEMBL:ENSP00000244537.6", "ENSEMBL:ENSP00000347168", "ENSEMBL:ENSP00000347168.2", "ENSEMBL:ENSP00000350767", "ENSEMBL:ENSP00000350767.3", "ENSEMBL:ENSP00000366956", "ENSEMBL:ENSP00000366956.1", "ENSEMBL:ENSP00000366974", "ENSEMBL:ENSP00000366974.2", "ENSEMBL:ENSP00000367034", "ENSEMBL:ENSP00000367034.3", "ENSEMBL:ENSP00000443017", "ENSEMBL:ENSP00000443017.1", "ENSEMBL:ENSP00000462355", "ENSEMBL:ENSP00000462355.1", "ENSEMBL:ENSP00000462667", "ENSEMBL:ENSP00000462667.1", "ENSEMBL:ENSP00000478519", "ENSEMBL:ENSP00000478519.1", "ENSEMBL:ENSP00000478786", "ENSEMBL:ENSP00000478786.1", "ENSEMBL:ENSP00000479106", "ENSEMBL:ENSP00000479106.2", "ENSEMBL:ENSP00000479461", "ENSEMBL:ENSP00000479461.2", "ENSEMBL:ENSP00000479794", "ENSEMBL:ENSP00000479794.2", "ENSEMBL:ENSP00000480960", "ENSEMBL:ENSP00000480960.2", "ENSEMBL:ENSP00000481343", "ENSEMBL:ENSP00000481343.1", "ENSEMBL:ENSP00000481486", "ENSEMBL:ENSP00000481486.1", "ENSEMBL:ENSP00000481507", "ENSEMBL:ENSP00000481507.1", "ENSEMBL:ENSP00000482412", "ENSEMBL:ENSP00000482412.1", "ENSEMBL:ENSP00000484789", "ENSEMBL:ENSP00000484789.1", "ENSEMBL:ENSP00000489319", "ENSEMBL:ENSP00000489319.1", "ENSEMBL:ENSP00000489567", "ENSEMBL:ENSP00000489567.1", "ENSEMBL:ENSP00000520530", "ENSEMBL:ENSP00000520530.1", "ENSEMBL:ENSP00000520698", "ENSEMBL:ENSP00000520698.1", "ENSEMBL:ENSP00000520819", "ENSEMBL:ENSP00000520819.1", "ENSEMBL:ENSP00000520855", "ENSEMBL:ENSP00000520855.1", "UMLS:C5441589"], "information_content": 78.3}
{"id": "NCBIGene:222643", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UNC5CL", "equivalent_identifiers": ["NCBIGene:222643", "ENSEMBL:ENSG00000124602", "HGNC:21203", "OMIM:617464", "UMLS:C1427411", "UniProtKB:H8YHX0", "UMLS:C1452022", "MESH:C486467", "UniProtKB:Q8IV45", "PR:Q8IV45", "ENSEMBL:ENSP00000244565", "ENSEMBL:ENSP00000244565.3", "ENSEMBL:ENSP00000362258", "ENSEMBL:ENSP00000362258.1"], "information_content": 100.0}
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{"id": "NCBIGene:57505", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AARS2", "equivalent_identifiers": ["NCBIGene:57505", "ENSEMBL:ENSG00000124608", "HGNC:21022", "OMIM:612035", "UMLS:C1427250", "UniProtKB:Q5JTZ9", "PR:Q5JTZ9", "ENSEMBL:ENSP00000244571", "ENSEMBL:ENSP00000244571.4", "UMLS:C5197148", "MESH:C000631233"], "information_content": 95.4}
{"id": "MONDO:0013570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 8", "equivalent_identifiers": ["MONDO:0013570", "DOID:0111479", "OMIM:614096", "orphanet:319504", "UMLS:C4518839", "NCIT:C180851", "SNOMEDCT:733600007", "medgen:1377817"], "information_content": 100.0}
{"id": "MONDO:0014397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 20", "equivalent_identifiers": ["MONDO:0014397", "DOID:0111478", "OMIM:615917", "orphanet:420728", "UMLS:C4014660", "medgen:863097"], "information_content": 100.0}
{"id": "NCBIGene:3024", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H1-1", "equivalent_identifiers": ["NCBIGene:3024", "ENSEMBL:ENSG00000124610", "HGNC:4715", "OMIM:142709", "UMLS:C1415385", "UniProtKB:Q02539", "PR:Q02539", "ENSEMBL:ENSP00000244573", "ENSEMBL:ENSP00000244573.4", "UMLS:C3252388", "UMLS:C4288958", "MESH:C569262"], "information_content": 95.4}
{"id": "NCBIGene:10930", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOBEC2", "equivalent_identifiers": ["NCBIGene:10930", "ENSEMBL:ENSG00000124701", "HGNC:605", "OMIM:604797", "UMLS:C1412473", "UniProtKB:Q9Y235", "PR:Q9Y235", "ENSEMBL:ENSP00000244669", "ENSEMBL:ENSP00000244669.2", "UMLS:C1309196", "MESH:C120388"], "information_content": 95.4}
{"id": "UniProtKB:Q9NP99-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "triggering receptor expressed on myeloid cells 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP99-1", "PR:Q9NP99-1", "ENSEMBL:ENSP00000244709", "ENSEMBL:ENSP00000244709.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96P44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XXI) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96P44-1", "PR:Q96P44-1", "ENSEMBL:ENSP00000244728", "ENSEMBL:ENSP00000244728.5"], "information_content": 100.0}
{"id": "NCBIGene:6659", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOX4", "equivalent_identifiers": ["NCBIGene:6659", "ENSEMBL:ENSG00000124766", "HGNC:11200", "OMIM:184430", "UMLS:C1420327", "UniProtKB:Q06945", "PR:Q06945", "ENSEMBL:ENSP00000244745", "ENSEMBL:ENSP00000244745.1", "UMLS:C0247303", "UMLS:C3813222", "MESH:C083431"], "information_content": 95.4}
{"id": "UniProtKB:Q9HCH3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "copine-5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCH3-1", "PR:Q9HCH3-1", "ENSEMBL:ENSP00000244751", "ENSEMBL:ENSP00000244751.2"], "information_content": 100.0}
{"id": "UniProtKB:P43307-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "translocon-associated protein subunit alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43307-1", "PR:P43307-1", "ENSEMBL:ENSP00000244763", "ENSEMBL:ENSP00000244763.4"], "information_content": 100.0}
{"id": "MONDO:0012948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 6pter-p24 deletion syndrome", "equivalent_identifiers": ["MONDO:0012948", "DOID:0060422", "OMIM:612582", "orphanet:96125", "UMLS:C2675486", "UMLS:C4305276", "MESH:C567239", "SNOMEDCT:718688008", "medgen:393396"], "information_content": 100.0}
{"id": "UniProtKB:P54253-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ataxin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P54253-1", "PR:P54253-1", "ENSEMBL:ENSP00000244769", "ENSEMBL:ENSP00000244769.3", "ENSEMBL:ENSP00000416360", "ENSEMBL:ENSP00000416360.1"], "information_content": 100.0}
{"id": "NCBIGene:2069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EREG", "equivalent_identifiers": ["NCBIGene:2069", "ENSEMBL:ENSG00000124882", "HGNC:3443", "OMIM:602061", "UMLS:C1366644", "UniProtKB:O14944", "PR:O14944", "ENSEMBL:ENSP00000244869", "ENSEMBL:ENSP00000244869.2", "UMLS:C3884279", "UMLS:C3888282", "MESH:C587880"], "information_content": 81.3}
{"id": "NCBIGene:10647", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCGB1D2", "equivalent_identifiers": ["NCBIGene:10647", "ENSEMBL:ENSG00000124935", "HGNC:18396", "OMIM:615061", "UMLS:C1425495", "UniProtKB:O95969", "PR:O95969", "ENSEMBL:ENSP00000244926", "ENSEMBL:ENSP00000244926.3", "UMLS:C1434618", "MESH:C556464"], "information_content": 100.0}
{"id": "MONDO:0009609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylcobalamin deficiency type cblG", "equivalent_identifiers": ["MONDO:0009609", "DOID:0050733", "DOID:0112256", "OMIM:250940", "orphanet:2170", "EFO:0005597", "UMLS:C1855128", "UMLS:C4303500", "MESH:C565394", "SNOMEDCT:721187005", "medgen:344426"], "information_content": 100.0}
{"id": "MONDO:0002056", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fibroadenoma", "equivalent_identifiers": ["MONDO:0002056", "DOID:1618", "EFO:1000254", "UMLS:C0178421", "UMLS:C0206650", "UMLS:C0346158", "UMLS:C1333137", "MESH:D018226", "MEDDRA:10006276", "MEDDRA:10016613", "MEDDRA:10063384", "NCIT:C3744", "NCIT:C4276", "NCIT:C5194", "SNOMEDCT:1156873009", "SNOMEDCT:254845004", "SNOMEDCT:254847007", "SNOMEDCT:46212000", "medgen:64231", "ICD10:D24", "HP:0010619"], "information_content": 86.3}
{"id": "NCBIGene:4246", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCGB2A1", "equivalent_identifiers": ["NCBIGene:4246", "ENSEMBL:ENSG00000124939", "HGNC:7051", "OMIM:604398", "UMLS:C1417140", "UniProtKB:O75556", "PR:O75556", "ENSEMBL:ENSP00000244930", "ENSEMBL:ENSP00000244930.4", "UMLS:C1313474", "MESH:C556467"], "information_content": 100.0}
{"id": "UniProtKB:Q9P0I2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ER membrane protein complex subunit 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0I2-1", "PR:Q9P0I2-1", "ENSEMBL:ENSP00000245046", "ENSEMBL:ENSP00000245046.2", "ENSEMBL:ENSP00000474771", "ENSEMBL:ENSP00000474771.2"], "information_content": 100.0}
{"id": "NCBIGene:54436", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SH3TC1", "equivalent_identifiers": ["NCBIGene:54436", "ENSEMBL:ENSG00000125089", "HGNC:26009", "UMLS:C1428544", "UniProtKB:A0A804HI81", "ENSEMBL:ENSP00000506945", "ENSEMBL:ENSP00000506945.1", "UniProtKB:B3KWX8", "UniProtKB:H0YA34", "ENSEMBL:ENSP00000426035", "ENSEMBL:ENSP00000426035.2", "UniProtKB:Q8TE82", "PR:Q8TE82", "ENSEMBL:ENSP00000245105", "ENSEMBL:ENSP00000245105.3", "ENSEMBL:ENSP00000390311", "ENSEMBL:ENSP00000390311.3"], "information_content": 89.4}
{"id": "MONDO:0015626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease", "equivalent_identifiers": ["MONDO:0015626", "DOID:10595", "OMIM.PS:118220", "orphanet:166", "UMLS:C0007959", "MESH:D002607", "MEDDRA:10008414", "MEDDRA:10034699", "NCIT:C75467", "medgen:2980", "ICD9:356.1"], "information_content": 69.4}
{"id": "UniProtKB:Q8IYT4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "katanin p60 ATPase-containing subunit A-like 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYT4-2", "PR:Q8IYT4-2", "ENSEMBL:ENSP00000245121", "ENSEMBL:ENSP00000245121.4"], "information_content": 100.0}
{"id": "MONDO:0014205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome", "equivalent_identifiers": ["MONDO:0014205", "DOID:0080893", "OMIM:615485", "orphanet:352577", "UMLS:C4750837", "MESH:C000726367", "SNOMEDCT:773400009", "medgen:1656239"], "information_content": 100.0}
{"id": "MONDO:0010830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 8", "equivalent_identifiers": ["MONDO:0010830", "DOID:0110723", "OMIM:600143", "orphanet:228354", "UMLS:C1838570", "MESH:C537952", "SNOMEDCT:703526007", "medgen:374004"], "information_content": 95.4}
{"id": "NCBIGene:583", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BBS2", "equivalent_identifiers": ["NCBIGene:583", "ENSEMBL:ENSG00000125124", "HGNC:967", "OMIM:606151", "UMLS:C1412747", "UniProtKB:A0A804HIE1", "UniProtKB:A0A804HKG1", "ENSEMBL:ENSP00000506965", "ENSEMBL:ENSP00000506965.1", "ENSEMBL:ENSP00000507914", "ENSEMBL:ENSP00000507914.1", "UniProtKB:Q9BXC9", "PR:Q9BXC9", "ENSEMBL:ENSP00000245157", "ENSEMBL:ENSP00000245157.5", "ENSEMBL:ENSP00000507027", "ENSEMBL:ENSP00000507027.1", "ENSEMBL:ENSP00000507654", "ENSEMBL:ENSP00000507654.1", "ENSEMBL:ENSP00000507699", "ENSEMBL:ENSP00000507699.1", "ENSEMBL:ENSP00000508377", "ENSEMBL:ENSP00000508377.1"], "information_content": 90.9}
{"id": "MONDO:0012991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kahrizi syndrome", "equivalent_identifiers": ["MONDO:0012991", "DOID:0050807", "OMIM:612713", "UMLS:C2675185", "MESH:C567196", "medgen:382543"], "information_content": 100.0}
{"id": "MONDO:0019012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carpenter syndrome", "equivalent_identifiers": ["MONDO:0019012", "DOID:0060234", "OMIM.PS:201000", "orphanet:65759", "UMLS:C1275078", "MESH:C563187", "MEDDRA:10081310", "NCIT:C98873", "SNOMEDCT:403767009", "medgen:226897", "icd11.foundation:2132713612"], "information_content": 90.9}
{"id": "MONDO:0009182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Herlitz Disease", "equivalent_identifiers": ["MONDO:0009182", "DOID:0060737", "OMIM:226700", "orphanet:79404", "UMLS:C0079683", "SNOMEDCT:400140006", "medgen:36328", "ICD10:Q81.1"], "information_content": 100.0}
{"id": "NCBIGene:4502", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT2A", "equivalent_identifiers": ["NCBIGene:4502", "ENSEMBL:ENSG00000125148", "HGNC:7406", "OMIM:156360", "UMLS:C1417402", "UniProtKB:P02795", "PR:P02795", "ENSEMBL:ENSP00000245185", "ENSEMBL:ENSP00000245185.5", "UMLS:C1452227", "MESH:C491053"], "information_content": 95.4}
{"id": "MONDO:0002537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inverted papilloma", "equivalent_identifiers": ["MONDO:0002537", "DOID:3179", "UMLS:C0206721", "MESH:D018308", "NCIT:C3793", "SNOMEDCT:104081000119103", "medgen:61668"], "information_content": 80.6}
{"id": "MONDO:0010023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to ZAP70 deficiency", "equivalent_identifiers": ["MONDO:0010023", "DOID:0111943", "OMIM:269840", "orphanet:911", "UMLS:C1849236", "UMLS:C2931299", "UMLS:C5575025", "MESH:C536722", "MESH:C537590", "NCIT:C176821", "SNOMEDCT:716378008", "medgen:1809040", "icd11.foundation:1718367094"], "information_content": 100.0}
{"id": "UniProtKB:P00505-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aspartate aminotransferase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P00505-1", "PR:P00505-1", "ENSEMBL:ENSP00000245206", "ENSEMBL:ENSP00000245206.5"], "information_content": 100.0}
{"id": "MONDO:0004613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute intestinal ischemia", "equivalent_identifiers": ["MONDO:0004613", "DOID:8590", "UMLS:C0001363", "MEDDRA:10001108", "NCIT:C34356", "SNOMEDCT:91489000", "medgen:116", "ICD9:557.0"], "information_content": 100.0}
{"id": "MONDO:0004668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fascioliasis", "equivalent_identifiers": ["MONDO:0004668", "DOID:885", "EFO:1001324", "UMLS:C0015652", "UMLS:C1331532", "MESH:D005211", "MEDDRA:10016233", "MEDDRA:10016234", "MEDDRA:10024688", "NCIT:C128387", "SNOMEDCT:111922007", "SNOMEDCT:240798009", "SNOMEDCT:82308007", "medgen:41969", "icd11.foundation:656408831", "ICD10:B66.3", "ICD9:121.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96J94-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "piwi-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96J94-1", "PR:Q96J94-1", "ENSEMBL:ENSP00000245255", "ENSEMBL:ENSP00000245255.3", "ENSEMBL:ENSP00000481042", "ENSEMBL:ENSP00000481042.1"], "information_content": 100.0}
{"id": "NCBIGene:5911", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAP2A", "equivalent_identifiers": ["NCBIGene:5911", "ENSEMBL:ENSG00000125249", "HGNC:9861", "OMIM:179540", "UMLS:C1419269", "UniProtKB:P10114", "PR:P10114", "ENSEMBL:ENSP00000245304", "ENSEMBL:ENSP00000245304.3", "UMLS:C1447049", "MESH:C116756"], "information_content": 95.4}
{"id": "NCBIGene:6555", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC10A2", "equivalent_identifiers": ["NCBIGene:6555", "ENSEMBL:ENSG00000125255", "HGNC:10906", "OMIM:601295", "UMLS:C1420087", "UniProtKB:Q12908", "PR:Q12908", "ENSEMBL:ENSP00000245312", "ENSEMBL:ENSP00000245312.3", "UMLS:C1451291"], "information_content": 95.4}
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{"id": "NCBIGene:652", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BMP4", "equivalent_identifiers": ["NCBIGene:652", "ENSEMBL:ENSG00000125378", "HGNC:1071", "OMIM:112262", "UMLS:C1412805", "UniProtKB:P12644", "PR:P12644", "ENSEMBL:ENSP00000245451", "ENSEMBL:ENSP00000245451.4", "ENSEMBL:ENSP00000394165", "ENSEMBL:ENSP00000394165.1", "ENSEMBL:ENSP00000453485", "ENSEMBL:ENSP00000453485.1", "ENSEMBL:ENSP00000454134", "ENSEMBL:ENSP00000454134.1", "UMLS:C1568257", "MESH:C525809", "UniProtKB:Q53XC5"], "information_content": 90.9}
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{"id": "NCBIGene:51081", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPS7", "equivalent_identifiers": ["NCBIGene:51081", "ENSEMBL:ENSG00000125445", "HGNC:14499", "OMIM:611974", "UMLS:C1422705", "UniProtKB:Q9Y2R9", "PR:Q9Y2R9", "ENSEMBL:ENSP00000245539", "ENSEMBL:ENSP00000245539.6", "UMLS:C4076926", "MESH:C000604470"], "information_content": 92.8}
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{"id": "MONDO:0013726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1", "equivalent_identifiers": ["MONDO:0013726", "DOID:0070347", "OMIM:614388", "orphanet:330050", "UMLS:C3280660", "medgen:482290"], "information_content": 100.0}
{"id": "MONDO:0002316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "motor peripheral neuropathy", "equivalent_identifiers": ["MONDO:0002316", "DOID:2477", "UMLS:C0271683", "MEDDRA:10078252", "NCIT:C3500", "SNOMEDCT:85423005", "SNOMEDCT:95663000", "medgen:82885", "HP:0007178"], "information_content": 83.6}
{"id": "UniProtKB:Q96N66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysophospholipid acyltransferase 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96N66-1", "PR:Q96N66-1", "ENSEMBL:ENSP00000245615", "ENSEMBL:ENSP00000245615.1", "ENSEMBL:ENSP00000478041", "ENSEMBL:ENSP00000478041.1", "ENSEMBL:ENSP00000478088", "ENSEMBL:ENSP00000478088.1", "ENSEMBL:ENSP00000478965", "ENSEMBL:ENSP00000478965.1", "ENSEMBL:ENSP00000481455", "ENSEMBL:ENSP00000481455.1", "ENSEMBL:ENSP00000482252", "ENSEMBL:ENSP00000482252.1", "ENSEMBL:ENSP00000482625", "ENSEMBL:ENSP00000482625.1", "ENSEMBL:ENSP00000484199", "ENSEMBL:ENSP00000484199.1", "ENSEMBL:ENSP00000484933", "ENSEMBL:ENSP00000484933.1", "ENSEMBL:ENSP00000484954", "ENSEMBL:ENSP00000484954.1"], "information_content": 100.0}
{"id": "UniProtKB:O75022", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIRB3_HUMAN Leukocyte immunoglobulin-like receptor subfamily B member 3 (sprot)", "equivalent_identifiers": ["UniProtKB:O75022", "PR:O75022", "ENSEMBL:ENSP00000245620", "ENSEMBL:ENSP00000245620.9", "ENSEMBL:ENSP00000375630", "ENSEMBL:ENSP00000375630.1", "ENSEMBL:ENSP00000479234", "ENSEMBL:ENSP00000479234.1"], "information_content": 86.3}
{"id": "MONDO:0017991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Takayasu arteritis", "equivalent_identifiers": ["MONDO:0017991", "DOID:2508", "OMIM:207600", "orphanet:3287", "orphanet:99079", "EFO:1001857", "UMLS:C0003490", "UMLS:C0003510", "UMLS:C0039263", "UMLS:C3146222", "MESH:D001015", "MESH:D013625", "MEDDRA:10002890", "MEDDRA:10037496", "MEDDRA:10043097", "MEDDRA:10043098", "MEDDRA:10058930", "NCIT:C34391", "NCIT:C35062", "SNOMEDCT:239937004", "SNOMEDCT:359789008", "medgen:21458", "icd11.foundation:1327645131", "ICD10:M31.4", "ICD9:446.7"], "information_content": 100.0}
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{"id": "NCBIGene:5623", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSPN", "equivalent_identifiers": ["NCBIGene:5623", "ENSEMBL:ENSG00000125650", "HGNC:9579", "OMIM:602921", "UMLS:C1419050", "UniProtKB:O60542", "PR:O60542", "ENSEMBL:ENSP00000245810", "ENSEMBL:ENSP00000245810.1", "UMLS:C2713476"], "information_content": 95.4}
{"id": "NCBIGene:8192", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLPP", "equivalent_identifiers": ["NCBIGene:8192", "ENSEMBL:ENSG00000125656", "HGNC:2084", "OMIM:601119", "UMLS:C1413504", "UniProtKB:Q16740", "PR:Q16740", "ENSEMBL:ENSP00000245816", "ENSEMBL:ENSP00000245816.3", "ENSEMBL:ENSP00000520519", "ENSEMBL:ENSP00000520519.1", "UMLS:C3253014", "MESH:C568646"], "information_content": 89.4}
{"id": "MONDO:0001889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ovarian failure", "equivalent_identifiers": ["MONDO:0001889", "DOID:1414", "EFO:0009003", "UMLS:C0029697", "UMLS:C0154208", "UMLS:C0747102", "MEDDRA:10013904", "MEDDRA:10033141", "MEDDRA:10033165", "MEDDRA:10046088", "NCIT:C113351", "SNOMEDCT:111550004", "SNOMEDCT:37102008", "medgen:509544", "icd11.foundation:1801368748", "ICD9:256.3"], "information_content": 71.0}
{"id": "MONDO:0017923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple synostoses syndrome", "equivalent_identifiers": ["MONDO:0017923", "DOID:0050794", "OMIM.PS:186500", "orphanet:3237", "UMLS:C0175700", "medgen:511579", "icd11.foundation:248917534"], "information_content": 89.4}
{"id": "NCBIGene:8744", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFSF9", "equivalent_identifiers": ["NCBIGene:8744", "ENSEMBL:ENSG00000125657", "HGNC:11939", "OMIM:606182", "UMLS:C1420821", "UniProtKB:A0A0U5J8I0", "UniProtKB:P41273", "PR:P41273", "ENSEMBL:ENSP00000245817", "ENSEMBL:ENSP00000245817.2", "UMLS:C1676759", "MESH:C505974"], "information_content": 95.4}
{"id": "MONDO:0014268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to OX40 deficiency", "equivalent_identifiers": ["MONDO:0014268", "DOID:0111935", "OMIM:615593", "orphanet:431149", "UMLS:C3810053", "UMLS:C4707864", "SNOMEDCT:766879006", "medgen:816383"], "information_content": 100.0}
{"id": "UniProtKB:Q8NI27-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "THO complex subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NI27-1", "PR:Q8NI27-1", "ENSEMBL:ENSP00000245838", "ENSEMBL:ENSP00000245838.8", "ENSEMBL:ENSP00000347959", "ENSEMBL:ENSP00000347959.4"], "information_content": 100.0}
{"id": "MONDO:0015168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis multiplex congenita", "equivalent_identifiers": ["MONDO:0015168", "DOID:0080954", "OMIM.PS:617468", "orphanet:1037", "UMLS:C5779613", "MEDDRA:10051643", "SNOMEDCT:205402004", "medgen:1830310", "icd11.foundation:1930990330"], "information_content": 76.2}
{"id": "NCBIGene:718", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C3", "equivalent_identifiers": ["NCBIGene:718", "ENSEMBL:ENSG00000125730", "HGNC:1318", "OMIM:120700", "UMLS:C1332656", "UniProtKB:B4DR57", "UniProtKB:P01024", "PR:P01024", "ENSEMBL:ENSP00000245907", "ENSEMBL:ENSP00000245907.4", "UMLS:C1569736", "UMLS:C1571455", "UMLS:C5441739", "UMLS:C5575341", "UMLS:C5575716", "MESH:C038245", "UniProtKB:V9HWA9"], "information_content": 75.5}
{"id": "MONDO:0012594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement factor I deficiency", "equivalent_identifiers": ["MONDO:0012594", "DOID:0050419", "OMIM:610984", "orphanet:200418", "UMLS:C3463916", "MESH:C572568", "SNOMEDCT:234621005", "medgen:483045"], "information_content": 100.0}
{"id": "MONDO:0006949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal drusen", "equivalent_identifiers": ["MONDO:0006949", "DOID:2569", "EFO:1001155", "UMLS:C0035312", "MESH:D015593", "MEDDRA:10062776", "SNOMEDCT:247153005", "medgen:20549", "ICD9:362.57"], "information_content": 92.8}
{"id": "UniProtKB:Q9BRG2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH2 domain-containing protein 3A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRG2-1", "PR:Q9BRG2-1", "ENSEMBL:ENSP00000245908", "ENSEMBL:ENSP00000245908.5"], "information_content": 100.0}
{"id": "MONDO:0005736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eastern equine encephalitis", "equivalent_identifiers": ["MONDO:0005736", "DOID:10841", "orphanet:83594", "EFO:0007242", "UMLS:C0153065", "MESH:D020242", "MEDDRA:10014060", "MEDDRA:10014061", "MEDDRA:10014587", "SNOMEDCT:416925005", "SNOMEDCT:417496004", "medgen:102258", "icd11.foundation:682536148", "ICD10:A83.2", "ICD9:062.2"], "information_content": 100.0}
{"id": "MONDO:0019380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "western equine encephalitis", "equivalent_identifiers": ["MONDO:0019380", "DOID:10843", "orphanet:83593", "EFO:0007546", "UMLS:C0153064", "MESH:D020241", "MEDDRA:10014614", "MEDDRA:10047915", "MEDDRA:10047916", "NCIT:C85227", "SNOMEDCT:47523006", "medgen:57778", "icd11.foundation:1543765035", "ICD10:A83.1", "ICD9:062.1"], "information_content": 100.0}
{"id": "MONDO:0018661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zika fever", "equivalent_identifiers": ["MONDO:0018661", "DOID:0060478", "orphanet:448237", "UMLS:C0276289", "MESH:D000071243", "MEDDRA:10078205", "NCIT:C128423", "SNOMEDCT:3928002", "medgen:547236", "icd11.foundation:1401438580", "ICD10:A92.8", "ICD9:066.3"], "information_content": 95.4}
{"id": "MONDO:0000345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Oropouche fever", "equivalent_identifiers": ["MONDO:0000345", "DOID:0050521", "UMLS:C0276386", "MEDDRA:10080465", "SNOMEDCT:72880002", "medgen:547314", "ICD10:A93.0"], "information_content": 100.0}
{"id": "UniProtKB:P53539-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FosB isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P53539-1", "PR:P53539-1", "ENSEMBL:ENSP00000245919", "ENSEMBL:ENSP00000245919.3"], "information_content": 100.0}
{"id": "MONDO:0005530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "opiate dependence", "equivalent_identifiers": ["MONDO:0005530", "DOID:2559", "EFO:0005611", "EFO:0010702", "UMLS:C0027412", "UMLS:C0524662", "UMLS:C4237238", "UMLS:C4237239", "UMLS:C4268216", "UMLS:C4324621", "UMLS:C4509040", "UMLS:C4509041", "UMLS:C4509042", "UMLS:C4509043", "MESH:D009293", "MEDDRA:10012346", "MEDDRA:10030892", "MEDDRA:10030896", "MEDDRA:10079385", "SNOMEDCT:1336192000", "SNOMEDCT:75544000", "medgen:99372", "ICD10:F11.2", "ICD9:304.00", "HP:0033515"], "information_content": 90.9}
{"id": "UniProtKB:O75298-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reticulon-2 isoform hRTN2-A (human)", "equivalent_identifiers": ["UniProtKB:O75298-1", "PR:O75298-1", "ENSEMBL:ENSP00000245923", "ENSEMBL:ENSP00000245923.3"], "information_content": 100.0}
{"id": "NCBIGene:7408", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VASP", "equivalent_identifiers": ["NCBIGene:7408", "ENSEMBL:ENSG00000125753", "HGNC:12652", "OMIM:601703", "UMLS:C1421428", "UniProtKB:A0A024R0V4", "UniProtKB:P50552", "PR:P50552", "ENSEMBL:ENSP00000245932", "ENSEMBL:ENSP00000245932.5", "UMLS:C1612778", "MESH:C000729995"], "information_content": 86.3}
{"id": "UniProtKB:Q92797-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "symplekin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92797-1", "PR:Q92797-1", "ENSEMBL:ENSP00000245934", "ENSEMBL:ENSP00000245934.7", "ENSEMBL:ENSP00000520453", "ENSEMBL:ENSP00000520453.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHU2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 61 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHU2-1", "PR:Q8NHU2-1", "ENSEMBL:ENSP00000245957", "ENSEMBL:ENSP00000245957.5"], "information_content": 100.0}
{"id": "MONDO:0010426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked endothelial corneal dystrophy", "equivalent_identifiers": ["MONDO:0010426", "DOID:0060446", "OMIM:300779", "orphanet:293621", "UMLS:C2749049", "MESH:C567587", "SNOMEDCT:718579008", "medgen:413518", "icd11.foundation:1842066261"], "information_content": 100.0}
{"id": "UniProtKB:P30305-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M-phase inducer phosphatase 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P30305-1", "PR:P30305-1", "ENSEMBL:ENSP00000245960", "ENSEMBL:ENSP00000245960.5"], "information_content": 100.0}
{"id": "UniProtKB:O43555-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "progonadoliberin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43555-1", "PR:O43555-1", "ENSEMBL:ENSP00000245983", "ENSEMBL:ENSP00000245983.2"], "information_content": 100.0}
{"id": "NCBIGene:22918", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD93", "equivalent_identifiers": ["NCBIGene:22918", "ENSEMBL:ENSG00000125810", "HGNC:15855", "OMIM:120577", "UMLS:C1824672", "UniProtKB:Q9NPY3", "PR:Q9NPY3", "ENSEMBL:ENSP00000246006", "ENSEMBL:ENSP00000246006.4", "ENSEMBL:ENSP00000520912", "ENSEMBL:ENSP00000520912.1", "ENSEMBL:ENSP00000520913", "ENSEMBL:ENSP00000520913.1", "ENSEMBL:ENSP00000520914", "ENSEMBL:ENSP00000520914.1", "UMLS:C5890831"], "information_content": 86.3}
{"id": "NCBIGene:56255", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMX4", "equivalent_identifiers": ["NCBIGene:56255", "ENSEMBL:ENSG00000125827", "HGNC:25237", "OMIM:616766", "UMLS:C1823560", "UniProtKB:Q9H1E5", "PR:Q9H1E5", "ENSEMBL:ENSP00000246024", "ENSEMBL:ENSP00000246024.2", "UMLS:C2744013", "MESH:C546436"], "information_content": 100.0}
{"id": "MONDO:0014590", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 18", "equivalent_identifiers": ["MONDO:0014590", "DOID:0110683", "OMIM:616330", "UMLS:C4225364", "medgen:906793"], "information_content": 100.0}
{"id": "NCBIGene:8195", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MKKS", "equivalent_identifiers": ["NCBIGene:8195", "ENSEMBL:ENSG00000125863", "HGNC:7108", "OMIM:604896", "UMLS:C1417174", "UniProtKB:B7Z3W9", "UMLS:C0971091", "MESH:C414726", "UniProtKB:Q9NPJ1", "PR:Q9NPJ1", "ENSEMBL:ENSP00000246062", "ENSEMBL:ENSP00000246062.4", "ENSEMBL:ENSP00000382008", "ENSEMBL:ENSP00000382008.2", "ENSEMBL:ENSP00000498849", "ENSEMBL:ENSP00000498849.1"], "information_content": 95.4}
{"id": "MONDO:0012273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 48", "equivalent_identifiers": ["MONDO:0012273", "DOID:0110505", "OMIM:609439", "UMLS:C1836199", "MESH:C563720", "medgen:332149"], "information_content": 100.0}
{"id": "UniProtKB:P60981-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "destrin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P60981-1", "PR:P60981-1", "ENSEMBL:ENSP00000246069", "ENSEMBL:ENSP00000246069.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJQ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosome-associated membrane glycoprotein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJQ1-1", "PR:Q9UJQ1-1", "ENSEMBL:ENSP00000246070", "ENSEMBL:ENSP00000246070.2"], "information_content": 100.0}
{"id": "NCBIGene:6939", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCF15", "equivalent_identifiers": ["NCBIGene:6939", "ENSEMBL:ENSG00000125878", "HGNC:11627", "OMIM:601010", "UMLS:C1420633", "UniProtKB:A4LBB6", "UMLS:C0257360", "MESH:C513109", "UniProtKB:Q12870", "PR:Q12870", "ENSEMBL:ENSP00000246080", "ENSEMBL:ENSP00000246080.3", "UniProtKB:Q6NVX3"], "information_content": 100.0}
{"id": "MONDO:0006594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pemphigus", "equivalent_identifiers": ["MONDO:0006594", "DOID:9182", "EFO:1000749", "UMLS:C0030807", "MESH:D010392", "MEDDRA:10034280", "NCIT:C34909", "SNOMEDCT:65172003", "medgen:45369", "icd11.foundation:191659986", "ICD10:L10", "ICD9:694.4"], "information_content": 85.5}
{"id": "NCBIGene:56914", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTOR", "equivalent_identifiers": ["NCBIGene:56914", "ENSEMBL:ENSG00000125879", "HGNC:8517", "OMIM:606067", "UMLS:C1418197", "UniProtKB:Q9NRC9", "PR:Q9NRC9", "ENSEMBL:ENSP00000246081", "ENSEMBL:ENSP00000246081.3", "UMLS:C0965823", "MESH:C412866"], "information_content": 95.4}
{"id": "MONDO:0002006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "serous labyrinthitis", "equivalent_identifiers": ["MONDO:0002006", "DOID:1467", "UMLS:C0155504", "MEDDRA:10040112", "SNOMEDCT:41674001", "medgen:509993", "ICD9:386.31"], "information_content": 100.0}
{"id": "NCBIGene:85508", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCRT2", "equivalent_identifiers": ["NCBIGene:85508", "ENSEMBL:ENSG00000215397", "HGNC:15952", "UMLS:C1423856", "UniProtKB:Q9NQ03", "PR:Q9NQ03", "ENSEMBL:ENSP00000246104", "ENSEMBL:ENSP00000246104.5"], "information_content": 100.0}
{"id": "NCBIGene:140881", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFB129", "equivalent_identifiers": ["NCBIGene:140881", "ENSEMBL:ENSG00000125903", "HGNC:16218", "UMLS:C1424094", "UniProtKB:A0A384MEC8", "UniProtKB:Q9H1M3", "PR:Q9H1M3", "ENSEMBL:ENSP00000246105", "ENSEMBL:ENSP00000246105.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H808-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transducin-like enhancer protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H808-1", "PR:Q9H808-1", "ENSEMBL:ENSP00000246112", "ENSEMBL:ENSP00000246112.3"], "information_content": 100.0}
{"id": "MONDO:0011025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cayman type cerebellar ataxia", "equivalent_identifiers": ["MONDO:0011025", "DOID:0060694", "OMIM:601238", "orphanet:94122", "UMLS:C1832585", "MESH:C563363", "SNOMEDCT:717332007", "medgen:331319", "ICD10:G11.0"], "information_content": 100.0}
{"id": "NCBIGene:8698", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S1PR4", "equivalent_identifiers": ["NCBIGene:8698", "ENSEMBL:ENSG00000125910", "HGNC:3170", "OMIM:603751", "UMLS:C1414258", "UniProtKB:O95977", "PR:O95977", "ENSEMBL:ENSP00000246115", "ENSEMBL:ENSP00000246115.3", "UMLS:C3541911", "UMLS:C5565380", "MESH:C000719765"], "information_content": 90.9}
{"id": "MONDO:0000588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune disorder of gastrointestinal tract", "equivalent_identifiers": ["MONDO:0000588", "DOID:0060031"], "information_content": 72.6}
{"id": "UniProtKB:Q969V3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BOS complex subunit NCLN isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969V3-1", "PR:Q969V3-1", "ENSEMBL:ENSP00000246117", "ENSEMBL:ENSP00000246117.3"], "information_content": 100.0}
{"id": "MONDO:0005511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "janus kinase-3 deficiency", "equivalent_identifiers": ["MONDO:0005511", "DOID:0060008", "EFO:0005565"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZP4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PITH domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZP4-1", "PR:Q9GZP4-1", "ENSEMBL:ENSP00000246151", "ENSEMBL:ENSP00000246151.4"], "information_content": 100.0}
{"id": "MONDO:0001281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alternating exotropia", "equivalent_identifiers": ["MONDO:0001281", "DOID:1142", "UMLS:C0152207", "MEDDRA:10001859", "MEDDRA:10078353", "SNOMEDCT:37214009", "medgen:101825", "icd11.foundation:1611093587", "ICD10:H50.15", "ICD9:378.15", "HP:0031717"], "information_content": 100.0}
{"id": "UniProtKB:P49356-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein farnesyltransferase subunit beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49356-1", "PR:P49356-1", "ENSEMBL:ENSP00000246166", "ENSEMBL:ENSP00000246166.2"], "information_content": 100.0}
{"id": "NCBIGene:10893", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP24", "equivalent_identifiers": ["NCBIGene:10893", "ENSEMBL:ENSG00000125966", "HGNC:7172", "OMIM:604871", "UMLS:C1417211", "UniProtKB:Q86VV6", "UMLS:C1453348", "MESH:C492243", "UniProtKB:Q9Y5R2", "PR:Q9Y5R2", "ENSEMBL:ENSP00000246186", "ENSEMBL:ENSP00000246186.6"], "information_content": 95.4}
{"id": "UniProtKB:Q9UKM9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein Raly isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKM9-1", "PR:Q9UKM9-1", "ENSEMBL:ENSP00000246194", "ENSEMBL:ENSP00000246194.3"], "information_content": 100.0}
{"id": "MONDO:0001600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ranula", "equivalent_identifiers": ["MONDO:0001600", "DOID:12904", "UMLS:C0026686", "UMLS:C2242813", "MESH:D011900", "MEDDRA:10028079", "MEDDRA:10037838", "MEDDRA:10039416", "MEDDRA:10051499", "MEDDRA:10060870", "MEDDRA:10060871", "NCIT:C127828", "NCIT:C27649", "SNOMEDCT:14919007", "SNOMEDCT:69825009", "medgen:10117", "icd11.foundation:48444833", "ICD10:K11.6", "ICD9:527.6", "HP:0030706"], "information_content": 100.0}
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{"id": "NCBIGene:7389", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UROD", "equivalent_identifiers": ["NCBIGene:7389", "ENSEMBL:ENSG00000126088", "HGNC:12591", "OMIM:613521", "UMLS:C1421374", "UniProtKB:A0A494C0Q8", "ENSEMBL:ENSP00000498668", "ENSEMBL:ENSP00000498668.1", "UniProtKB:P06132", "PR:P06132", "ENSEMBL:ENSP00000246337", "ENSEMBL:ENSP00000246337.4", "UMLS:C5441737"], "information_content": 92.8}
{"id": "MONDO:0019799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatoerythropoietic porphyria", "equivalent_identifiers": ["MONDO:0019799", "DOID:5230", "orphanet:95159", "UMLS:C0162569", "MESH:D017121", "NCIT:C84754", "SNOMEDCT:111386004", "medgen:57940", "icd11.foundation:214080046"], "information_content": 88.2}
{"id": "MONDO:0009902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous porphyria", "equivalent_identifiers": ["MONDO:0009902", "DOID:13271", "OMIM:263700", "orphanet:79277", "UMLS:C0162530", "UMLS:C2718078", "UMLS:C5886774", "MESH:D017092", "MEDDRA:10015288", "NCIT:C84697", "SNOMEDCT:190913009", "SNOMEDCT:22935002", "SNOMEDCT:67312003", "medgen:1861084"], "information_content": 100.0}
{"id": "MONDO:0007369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary coproporphyria", "equivalent_identifiers": ["MONDO:0007369", "DOID:13269", "OMIM:121300", "orphanet:79273", "UMLS:C0162531", "MESH:D046349", "MEDDRA:10019866", "NCIT:C84759", "SNOMEDCT:7425008", "medgen:57931", "icd11.foundation:1365918274", "ICD10:E80.29"], "information_content": 100.0}
{"id": "MONDO:0008297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "variegate porphyria", "equivalent_identifiers": ["MONDO:0008297", "DOID:4346", "OMIM:176200", "orphanet:79473", "UMLS:C0162532", "MESH:D046350", "MEDDRA:10047030", "NCIT:C85219", "SNOMEDCT:58275005", "medgen:58118", "icd11.foundation:1227474618"], "information_content": 95.4}
{"id": "MONDO:0008346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "siderosis", "equivalent_identifiers": ["MONDO:0008346", "DOID:10328", "DOID:12118", "OMIM:178550", "orphanet:99931", "UMLS:C0020807", "UMLS:C0037061", "UMLS:C0340176", "UMLS:C5780940", "MESH:D000097545", "MESH:D012806", "MEDDRA:10021241", "MEDDRA:10021242", "MEDDRA:10037396", "MEDDRA:10037399", "MEDDRA:10085555", "NCIT:C197968", "SNOMEDCT:40527005", "SNOMEDCT:62371005", "medgen:9403", "icd11.foundation:1542272036", "ICD10:J63.4", "ICD10:J84.03", "ICD9:516.1"], "information_content": 89.4}
{"id": "MONDO:0001582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cicatricial ectropion", "equivalent_identifiers": ["MONDO:0001582", "DOID:12782", "UMLS:C0155196", "MEDDRA:10009173", "SNOMEDCT:28914006", "medgen:102327", "ICD9:374.14", "HP:0025608"], "information_content": 100.0}
{"id": "NCBIGene:57152", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLURP1", "equivalent_identifiers": ["NCBIGene:57152", "ENSEMBL:ENSG00000126233", "HGNC:18746", "OMIM:606119", "UMLS:C1539788", "UniProtKB:P55000", "PR:P55000", "ENSEMBL:ENSP00000246515", "ENSEMBL:ENSP00000246515.1", "UMLS:C0526090", "MESH:C048963"], "information_content": 100.0}
{"id": "MONDO:0007074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ainhum", "equivalent_identifiers": ["MONDO:0007074", "DOID:11329", "OMIM:103400", "UMLS:C0001860", "MESH:D000387", "MEDDRA:10001524", "NCIT:C84544", "SNOMEDCT:38528001", "medgen:1381", "icd11.foundation:1138885521", "ICD10:L94.6", "ICD9:136.0", "HP:0031009"], "information_content": 100.0}
{"id": "MONDO:0007422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratoderma hereditarium mutilans", "equivalent_identifiers": ["MONDO:0007422", "DOID:0111339", "OMIM:124500", "orphanet:494", "UMLS:C0265964", "MESH:C536457", "SNOMEDCT:24559001", "medgen:78579"], "information_content": 100.0}
{"id": "NCBIGene:79414", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRFN3", "equivalent_identifiers": ["NCBIGene:79414", "ENSEMBL:ENSG00000126243", "HGNC:28370", "OMIM:612809", "UMLS:C1428696", "UniProtKB:Q9BTN0", "PR:Q9BTN0", "ENSEMBL:ENSP00000246529", "ENSEMBL:ENSP00000246529.3", "ENSEMBL:ENSP00000466989", "ENSEMBL:ENSP00000466989.1"], "information_content": 92.8}
{"id": "NCBIGene:84306", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDCD2L", "equivalent_identifiers": ["NCBIGene:84306", "ENSEMBL:ENSG00000126249", "HGNC:28194", "OMIM:615661", "UMLS:C1826556", "UniProtKB:Q9BRP1", "PR:Q9BRP1", "ENSEMBL:ENSP00000246535", "ENSEMBL:ENSP00000246535.1", "UMLS:C4507505", "MESH:C000620221"], "information_content": 100.0}
{"id": "MONDO:0012239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 4B, autosomal recessive", "equivalent_identifiers": ["MONDO:0012239", "DOID:0110926", "OMIM:609284", "UMLS:C1836448", "UMLS:C5829889", "MESH:C538348", "medgen:1840525"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SUMO-activating enzyme subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBT2-1", "PR:Q9UBT2-1", "ENSEMBL:ENSP00000246548", "ENSEMBL:ENSP00000246548.3"], "information_content": 100.0}
{"id": "MONDO:0016576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ectrodactyly", "equivalent_identifiers": ["MONDO:0016576", "DOID:0090020", "OMIM.PS:183600", "orphanet:2440", "UMLS:C0265554", "MESH:C574275", "MEDDRA:10079827", "NCIT:C75000", "SNOMEDCT:13624003", "SNOMEDCT:81208006", "medgen:78566", "HP:0100257"], "information_content": 87.2}
{"id": "UniProtKB:Q9UBK5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hematopoietic cell signal transducer isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBK5-1", "PR:Q9UBK5-1", "ENSEMBL:ENSP00000246551", "ENSEMBL:ENSP00000246551.3"], "information_content": 100.0}
{"id": "NCBIGene:2864", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FFAR1", "equivalent_identifiers": ["NCBIGene:2864", "ENSEMBL:ENSG00000126266", "HGNC:4498", "OMIM:603820", "UMLS:C1825292", "UniProtKB:O14842", "PR:O14842", "ENSEMBL:ENSP00000246553", "ENSEMBL:ENSP00000246553.2", "UMLS:C1175640", "UMLS:C3539852", "MESH:C473034"], "information_content": 95.4}
{"id": "UniProtKB:P13646-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin, type I cytoskeletal 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13646-1", "PR:P13646-1", "ENSEMBL:ENSP00000246635", "ENSEMBL:ENSP00000246635.3"], "information_content": 100.0}
{"id": "MONDO:0017919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "OEIS Complex", "equivalent_identifiers": ["MONDO:0017919", "DOID:0080173", "OMIM:258040", "orphanet:322", "UMLS:C1850321", "MESH:D000099061", "NCIT:C99142", "medgen:338020"], "information_content": 89.4}
{"id": "NCBIGene:8687", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT38", "equivalent_identifiers": ["NCBIGene:8687", "ENSEMBL:ENSG00000171360", "HGNC:6456", "OMIM:604542", "UMLS:C1825754", "UniProtKB:O76015", "PR:O76015", "ENSEMBL:ENSP00000246646", "ENSEMBL:ENSP00000246646.3", "UMLS:C1685351", "MESH:C507599"], "information_content": 100.0}
{"id": "NCBIGene:1236", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCR7", "equivalent_identifiers": ["NCBIGene:1236", "ENSEMBL:ENSG00000126353", "HGNC:1608", "OMIM:600242", "UMLS:C1413191", "UniProtKB:A0N0Q0", "UniProtKB:J3KSS9", "ENSEMBL:ENSP00000462631", "ENSEMBL:ENSP00000462631.1", "UniProtKB:P32248", "PR:P32248", "ENSEMBL:ENSP00000246657", "ENSEMBL:ENSP00000246657.2", "UMLS:C0214153", "MESH:C515370"], "information_content": 84.8}
{"id": "NCBIGene:3857", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT9", "equivalent_identifiers": ["NCBIGene:3857", "ENSEMBL:ENSG00000171403", "HGNC:6447", "OMIM:607606", "UMLS:C1416747", "UniProtKB:P35527", "PR:P35527", "ENSEMBL:ENSP00000246662", "ENSEMBL:ENSP00000246662.4", "UMLS:C1666259", "MESH:C507440"], "information_content": 89.4}
{"id": "MONDO:0004834", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ischemic fasciitis", "equivalent_identifiers": ["MONDO:0004834", "DOID:9601", "UMLS:C1304514", "NCIT:C6483", "SNOMEDCT:1295240006", "SNOMEDCT:403990005", "medgen:220988"], "information_content": 100.0}
{"id": "NCBIGene:9572", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NR1D1", "equivalent_identifiers": ["NCBIGene:9572", "ENSEMBL:ENSG00000126368", "HGNC:7962", "OMIM:602408", "UMLS:C1417821", "UniProtKB:F1D8S3", "UniProtKB:P20393", "PR:P20393", "ENSEMBL:ENSP00000246672", "ENSEMBL:ENSP00000246672.3", "UMLS:C1456353", "MESH:C064353"], "information_content": 100.0}
{"id": "UniProtKB:P36404-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor-like protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P36404-1", "PR:P36404-1", "ENSEMBL:ENSP00000246747", "ENSEMBL:ENSP00000246747.4", "ENSEMBL:ENSP00000436021", "ENSEMBL:ENSP00000436021.1"], "information_content": 100.0}
{"id": "NCBIGene:6237", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RRAS", "equivalent_identifiers": ["NCBIGene:6237", "ENSEMBL:ENSG00000126458", "HGNC:10447", "OMIM:165090", "UMLS:C1419756", "UniProtKB:P10301", "PR:P10301", "ENSEMBL:ENSP00000246792", "ENSEMBL:ENSP00000246792.2", "UMLS:C0252024", "MESH:C085929"], "information_content": 95.4}
{"id": "NCBIGene:5639", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRRG2", "equivalent_identifiers": ["NCBIGene:5639", "ENSEMBL:ENSG00000126460", "HGNC:9470", "OMIM:604429", "UMLS:C1418962", "UniProtKB:O14669", "PR:O14669", "ENSEMBL:ENSP00000246794", "ENSEMBL:ENSP00000246794.4", "UMLS:C1958792", "MESH:C521479", "UniProtKB:Q8TAS3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis-specific serine kinase substrate isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJT2-1", "PR:Q9UJT2-1", "ENSEMBL:ENSP00000246801", "ENSEMBL:ENSP00000246801.2"], "information_content": 100.0}
{"id": "NCBIGene:29997", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOP53", "equivalent_identifiers": ["NCBIGene:29997", "ENSEMBL:ENSG00000105373", "HGNC:4333", "OMIM:605691", "UMLS:C1333682", "UniProtKB:Q9NZM5", "PR:Q9NZM5", "ENSEMBL:ENSP00000246802", "ENSEMBL:ENSP00000246802.4", "UMLS:C1569402", "MESH:C500712"], "information_content": 92.8}
{"id": "UniProtKB:Q9NZU1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat transmembrane protein FLRT1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZU1-2", "PR:Q9NZU1-2", "ENSEMBL:ENSP00000246841", "ENSEMBL:ENSP00000246841.3", "ENSEMBL:ENSP00000507207", "ENSEMBL:ENSP00000507207.1"], "information_content": 100.0}
{"id": "NCBIGene:51119", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SBDS", "equivalent_identifiers": ["NCBIGene:51119", "ENSEMBL:ENSG00000126524", "HGNC:19440", "OMIM:607444", "UMLS:C1426244", "UniProtKB:A0A0S2Z5I7", "UMLS:C1173629", "MESH:C470521", "UniProtKB:Q9Y3A5", "PR:Q9Y3A5", "ENSEMBL:ENSP00000246868", "ENSEMBL:ENSP00000246868.2", "ENSEMBL:ENSP00000513469", "ENSEMBL:ENSP00000513469.1", "UMLS:C3273615"], "information_content": 89.4}
{"id": "MONDO:0006574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipomatosis", "equivalent_identifiers": ["MONDO:0006574", "DOID:3153", "EFO:1000728", "UMLS:C0023801", "UMLS:C0745730", "MESH:D008068", "MEDDRA:10051847", "MEDDRA:10061228", "NCIT:C3193", "SNOMEDCT:37095002", "SNOMEDCT:402693001", "SNOMEDCT:404062002", "medgen:9781", "ICD10:E88.2", "HP:0001012"], "information_content": 84.2}
{"id": "MONDO:0011176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal hypomagnesemia 1", "equivalent_identifiers": ["MONDO:0011176", "DOID:0060883", "OMIM:602014", "orphanet:30924", "UMLS:C1321780", "UMLS:C1865974", "UMLS:C3887522", "MESH:C566593", "SNOMEDCT:190856003", "medgen:355596"], "information_content": 100.0}
{"id": "UniProtKB:P47710-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-S1-casein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P47710-1", "PR:P47710-1", "ENSEMBL:ENSP00000246891", "ENSEMBL:ENSP00000246891.4"], "information_content": 100.0}
{"id": "UniProtKB:P02808-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "statherin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P02808-1", "PR:P02808-1", "ENSEMBL:ENSP00000246895", "ENSEMBL:ENSP00000246895.4", "ENSEMBL:ENSP00000489243", "ENSEMBL:ENSP00000489243.1"], "information_content": 100.0}
{"id": "DOID:2497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enamel erosion", "equivalent_identifiers": ["DOID:2497", "UMLS:C0399400", "SNOMEDCT:234977009", "ICD9:521.31"]}
{"id": "MONDO:0006723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "denture stomatitis", "equivalent_identifiers": ["MONDO:0006723", "DOID:11875", "EFO:1000893", "UMLS:C0038364", "MESH:D013282", "MEDDRA:10080528", "SNOMEDCT:69254008", "medgen:21333", "ICD10:K12.1"], "information_content": 100.0}
{"id": "MONDO:0007655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fissured tongue", "equivalent_identifiers": ["MONDO:0007655", "DOID:11514", "OMIM:137400", "UMLS:C0040412", "UMLS:C4540616", "MESH:D014063", "MEDDRA:10035630", "MEDDRA:10072002", "MEDDRA:10072003", "MEDDRA:10086802", "SNOMEDCT:52368004", "medgen:1624209", "icd11.foundation:699700094", "ICD10:K14.5", "ICD9:529.5", "HP:0000221"], "information_content": 95.4}
{"id": "MONDO:0000741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angular cheilitis", "equivalent_identifiers": ["MONDO:0000741", "DOID:0060312", "UMLS:C0221237", "MEDDRA:10002509", "MEDDRA:10002510", "MEDDRA:10058162", "MEDDRA:10058164", "NCIT:C112198", "SNOMEDCT:266429005", "medgen:526202", "icd11.foundation:591060439", "ICD10:K13.0", "HP:0030318"], "information_content": 100.0}
{"id": "UniProtKB:Q9UH92-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Max-like protein X isoform Gamma (human)", "equivalent_identifiers": ["UniProtKB:Q9UH92-1", "PR:Q9UH92-1", "ENSEMBL:ENSP00000246912", "ENSEMBL:ENSP00000246912.3"], "information_content": 100.0}
{"id": "MONDO:0010235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-psychosis-macroorchidism syndrome", "equivalent_identifiers": ["MONDO:0010235", "DOID:0060827", "OMIM:300055", "orphanet:3077", "UMLS:C0796222", "UMLS:C1848211", "UMLS:C1968551", "UMLS:C1968552", "MESH:C563139", "MESH:C564724", "MESH:C566876", "MESH:C566877", "SNOMEDCT:702356009", "medgen:163232", "ICD10:F71.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96J92-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase WNK4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96J92-1", "PR:Q96J92-1", "ENSEMBL:ENSP00000246914", "ENSEMBL:ENSP00000246914.4"], "information_content": 100.0}
{"id": "MONDO:0019942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal arthrogryposis", "equivalent_identifiers": ["MONDO:0019942", "DOID:0050646", "OMIM.PS:108120", "orphanet:97120", "UMLS:C0265213", "MEDDRA:10083954", "SNOMEDCT:24269006", "medgen:120512", "icd11.foundation:1265239690", "HP:0005684"], "information_content": 77.1}
{"id": "MONDO:0009025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "apparent mineralocorticoid excess", "equivalent_identifiers": ["MONDO:0009025", "DOID:4367", "OMIM:218030", "orphanet:320", "EFO:1000817", "UMLS:C0342488", "UMLS:C5575027", "MESH:C537422", "MESH:D043204", "MEDDRA:10080229", "NCIT:C123231", "NCIT:C131083", "SNOMEDCT:237770005", "SNOMEDCT:703256004", "medgen:90983", "icd11.foundation:1737310323"], "information_content": 100.0}
{"id": "MONDO:0001422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Conn's syndrome", "equivalent_identifiers": ["MONDO:0001422", "DOID:12028", "UMLS:C1384514", "MEDDRA:10010758", "MEDDRA:10036692", "NCIT:C34510", "SNOMEDCT:190507007", "SNOMEDCT:258117004", "medgen:278002", "ICD10:E26.01", "ICD9:255.12", "HP:0011736"], "information_content": 84.8}
{"id": "MONDO:0014047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cowden syndrome 5", "equivalent_identifiers": ["MONDO:0014047", "DOID:0081001", "OMIM:615108", "UMLS:C3554518", "medgen:767432"], "information_content": 100.0}
{"id": "UniProtKB:Q12931-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heat shock protein 75 kDa, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12931-1", "PR:Q12931-1", "ENSEMBL:ENSP00000246957", "ENSEMBL:ENSP00000246957.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWZ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SURP and G-patch domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWZ8-1", "PR:Q8IWZ8-1", "ENSEMBL:ENSP00000247001", "ENSEMBL:ENSP00000247001.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6V7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable ATP-dependent RNA helicase DDX49 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6V7-1", "PR:Q9Y6V7-1", "ENSEMBL:ENSP00000247003", "ENSEMBL:ENSP00000247003.3"], "information_content": 100.0}
{"id": "MONDO:0011436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive distal spinal muscular atrophy 1", "equivalent_identifiers": ["MONDO:0011436", "DOID:0111064", "OMIM:604320", "orphanet:98920", "UMLS:C1858517", "MESH:C536880", "SNOMEDCT:711483003", "medgen:388083"], "information_content": 100.0}
{"id": "NCBIGene:2657", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GDF1", "equivalent_identifiers": ["NCBIGene:2657", "ENSEMBL:ENSG00000130283", "HGNC:4214", "OMIM:602880", "UMLS:C1415031", "UniProtKB:P27539", "PR:P27539", "ENSEMBL:ENSP00000247005", "ENSEMBL:ENSP00000247005.5", "UMLS:C1620206", "MESH:C525977"], "information_content": 100.0}
{"id": "MONDO:0008832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Polyasplenia", "equivalent_identifiers": ["MONDO:0008832", "DOID:0060856", "OMIM:208530", "orphanet:97548", "UMLS:C0175707", "UMLS:C0265357", "UMLS:C1876171", "UMLS:C1876173", "UMLS:C3178806", "MESH:C566862", "MESH:C566864", "MEDDRA:10059124", "MEDDRA:10059125", "MEDDRA:10068334", "MEDDRA:10068335", "MEDDRA:10080599", "SNOMEDCT:253336000", "SNOMEDCT:72425000", "medgen:465274", "HP:0011536"], "information_content": 100.0}
{"id": "NCBIGene:6388", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDF2", "equivalent_identifiers": ["NCBIGene:6388", "ENSEMBL:ENSG00000132581", "HGNC:10675", "OMIM:602934", "UMLS:C1419904", "UniProtKB:Q6IBU4", "UMLS:C1430512", "MESH:C102467", "UniProtKB:Q99470", "PR:Q99470", "ENSEMBL:ENSP00000247020", "ENSEMBL:ENSP00000247020.3"], "information_content": 95.4}
{"id": "NCBIGene:84081", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NSRP1", "equivalent_identifiers": ["NCBIGene:84081", "ENSEMBL:ENSG00000126653", "HGNC:25305", "OMIM:616173", "UMLS:C1824579", "UniProtKB:A0A024QZ33", "ENSEMBL:ENSP00000477862", "ENSEMBL:ENSP00000477862.1", "UMLS:C3178009", "MESH:C560091", "UniProtKB:B7ZL27", "UniProtKB:Q9H0G5", "PR:Q9H0G5", "ENSEMBL:ENSP00000247026", "ENSEMBL:ENSP00000247026.5"], "information_content": 95.4}
{"id": "MONDO:0000396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic cerebral palsy", "equivalent_identifiers": ["MONDO:0000396", "DOID:0050669", "UMLS:C0338596", "MEDDRA:10086400", "NCIT:C116903", "SNOMEDCT:230773005", "medgen:137905", "icd11.foundation:1426032265"], "information_content": 84.2}
{"id": "NCBIGene:5199", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFP", "equivalent_identifiers": ["NCBIGene:5199", "ENSEMBL:ENSG00000126759", "HGNC:8864", "OMIM:300383", "UMLS:C1418482", "UniProtKB:A0A0S2Z4I5", "UniProtKB:P27918", "PR:P27918", "ENSEMBL:ENSP00000247153", "ENSEMBL:ENSP00000247153.3", "ENSEMBL:ENSP00000380189", "ENSEMBL:ENSP00000380189.3", "UMLS:C3889642"], "information_content": 90.9}
{"id": "MONDO:0010713", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "properdin deficiency, X-linked", "equivalent_identifiers": ["MONDO:0010713", "DOID:0111768", "OMIM:312060", "orphanet:2966", "UMLS:C0398762", "UMLS:C1839454", "UMLS:C1839455", "UMLS:C1839456", "MESH:C537241", "MESH:C564075", "MESH:C564076", "SNOMEDCT:81166004", "medgen:333322"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZNE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beclin 1-associated autophagy-related key regulator isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZNE5-1", "PR:Q6ZNE5-1", "ENSEMBL:ENSP00000247178", "ENSEMBL:ENSP00000247178.5"], "information_content": 100.0}
{"id": "UniProtKB:Q15398-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disks large-associated protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15398-2", "PR:Q15398-2", "ENSEMBL:ENSP00000247191", "ENSEMBL:ENSP00000247191.2"], "information_content": 100.0}
{"id": "NCBIGene:387332", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBPL2", "equivalent_identifiers": ["NCBIGene:387332", "ENSEMBL:ENSG00000182521", "HGNC:19841", "OMIM:608964", "UMLS:C1426468", "UniProtKB:Q6SJ96", "PR:Q6SJ96", "ENSEMBL:ENSP00000247219", "ENSEMBL:ENSP00000247219.6", "UMLS:C1433896", "MESH:C480637"], "information_content": 100.0}
{"id": "NCBIGene:81537", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SGPP1", "equivalent_identifiers": ["NCBIGene:81537", "ENSEMBL:ENSG00000126821", "HGNC:17720", "OMIM:612826", "UMLS:C1425046", "UniProtKB:Q9BX95", "PR:Q9BX95", "ENSEMBL:ENSP00000247225", "ENSEMBL:ENSP00000247225.6", "ENSEMBL:ENSP00000496280", "ENSEMBL:ENSP00000496280.1", "UMLS:C1434623", "MESH:C498527"], "information_content": 100.0}
{"id": "UniProtKB:A1L390-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family G member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A1L390-1", "PR:A1L390-1", "ENSEMBL:ENSP00000247226", "ENSEMBL:ENSP00000247226.8"], "information_content": 100.0}
{"id": "UniProtKB:P22794-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein EVI2A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P22794-2", "PR:P22794-2", "ENSEMBL:ENSP00000247270", "ENSEMBL:ENSP00000247270.3"], "information_content": 100.0}
{"id": "NCBIGene:4974", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OMG", "equivalent_identifiers": ["NCBIGene:4974", "ENSEMBL:ENSG00000126861", "HGNC:8135", "OMIM:164345", "UMLS:C1417949", "UniProtKB:P23515", "PR:P23515", "ENSEMBL:ENSP00000247271", "ENSEMBL:ENSP00000247271.4", "ENSEMBL:ENSP00000517225", "ENSEMBL:ENSP00000517225.1", "UMLS:C3178399", "MESH:C560528"], "information_content": 100.0}
{"id": "UniProtKB:O75638-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cancer/testis antigen 2 isoform hLAGE-1B (human)", "equivalent_identifiers": ["UniProtKB:O75638-1", "PR:O75638-1", "ENSEMBL:ENSP00000247306", "ENSEMBL:ENSP00000247306.4"], "information_content": 100.0}
{"id": "UniProtKB:P27824-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calnexin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P27824-1", "PR:P27824-1", "ENSEMBL:ENSP00000247461", "ENSEMBL:ENSP00000247461.4", "ENSEMBL:ENSP00000391646", "ENSEMBL:ENSP00000391646.2", "ENSEMBL:ENSP00000421434", "ENSEMBL:ENSP00000421434.2", "ENSEMBL:ENSP00000421813", "ENSEMBL:ENSP00000421813.2", "ENSEMBL:ENSP00000424063", "ENSEMBL:ENSP00000424063.1", "ENSEMBL:ENSP00000424745", "ENSEMBL:ENSP00000424745.2", "ENSEMBL:ENSP00000491760", "ENSEMBL:ENSP00000491760.1", "ENSEMBL:ENSP00000492372", "ENSEMBL:ENSP00000492372.1", "ENSEMBL:ENSP00000492868", "ENSEMBL:ENSP00000492868.1", "ENSEMBL:ENSP00000505013", "ENSEMBL:ENSP00000505013.1", "ENSEMBL:ENSP00000505202", "ENSEMBL:ENSP00000505202.1", "ENSEMBL:ENSP00000505526", "ENSEMBL:ENSP00000505526.1", "ENSEMBL:ENSP00000505960", "ENSEMBL:ENSP00000505960.1", "ENSEMBL:ENSP00000506003", "ENSEMBL:ENSP00000506003.1", "ENSEMBL:ENSP00000506021", "ENSEMBL:ENSP00000506021.1", "ENSEMBL:ENSP00000506061", "ENSEMBL:ENSP00000506061.1", "ENSEMBL:ENSP00000506078", "ENSEMBL:ENSP00000506078.1", "ENSEMBL:ENSP00000506509", "ENSEMBL:ENSP00000506509.1", "ENSEMBL:ENSP00000506568", "ENSEMBL:ENSP00000506568.1", "ENSEMBL:ENSP00000506583", "ENSEMBL:ENSP00000506583.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULZ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptosis-associated speck-like protein containing a CARD isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULZ3-1", "PR:Q9ULZ3-1", "ENSEMBL:ENSP00000247470", "ENSEMBL:ENSP00000247470.9"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRX4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "14 kDa phosphohistidine phosphatase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRX4-1", "PR:Q9NRX4-1", "ENSEMBL:ENSP00000247665", "ENSEMBL:ENSP00000247665.10"], "information_content": 100.0}
{"id": "UniProtKB:Q12933-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TNF receptor-associated factor 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q12933-1", "PR:Q12933-1", "ENSEMBL:ENSP00000247668", "ENSEMBL:ENSP00000247668.2"], "information_content": 100.0}
{"id": "NCBIGene:79575", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABHD8", "equivalent_identifiers": ["NCBIGene:79575", "ENSEMBL:ENSG00000127220", "HGNC:23759", "OMIM:621036", "UMLS:C1428243", "UniProtKB:B2C6G3", "UniProtKB:Q96I13", "PR:Q96I13", "ENSEMBL:ENSP00000247706", "ENSEMBL:ENSP00000247706.2"], "information_content": 95.4}
{"id": "UniProtKB:Q8NG08-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA helicase B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NG08-1", "PR:Q8NG08-1", "ENSEMBL:ENSP00000247815", "ENSEMBL:ENSP00000247815.5", "ENSEMBL:ENSP00000443287", "ENSEMBL:ENSP00000443287.1"], "information_content": 100.0}
{"id": "NCBIGene:8089", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YEATS4", "equivalent_identifiers": ["NCBIGene:8089", "ENSEMBL:ENSG00000127337", "HGNC:24859", "OMIM:602116", "UMLS:C1333660", "UniProtKB:F8W0J4", "ENSEMBL:ENSP00000447199", "ENSEMBL:ENSP00000447199.1", "UniProtKB:O95619", "PR:O95619", "ENSEMBL:ENSP00000247843", "ENSEMBL:ENSP00000247843.2", "UMLS:C0668673", "MESH:C109446"], "information_content": 95.4}
{"id": "NCBIGene:50831", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R3", "equivalent_identifiers": ["NCBIGene:50831", "ENSEMBL:ENSG00000127362", "HGNC:14910", "OMIM:604868", "UMLS:C1423046", "UniProtKB:Q9NYW6", "PR:Q9NYW6", "ENSEMBL:ENSP00000247879", "ENSEMBL:ENSP00000247879.2", "UMLS:C5226394", "MESH:C000654498"], "information_content": 100.0}
{"id": "MONDO:0008287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Greig Syndrome", "equivalent_identifiers": ["MONDO:0008287", "DOID:14761", "OMIM:175700", "orphanet:380", "UMLS:C0265306", "MESH:C537300", "MEDDRA:10053878", "NCIT:C35255", "SNOMEDCT:32985001", "medgen:120531", "icd11.foundation:606500237"], "information_content": 92.8}
{"id": "NCBIGene:50832", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R4", "equivalent_identifiers": ["NCBIGene:50832", "ENSEMBL:ENSG00000127364", "HGNC:14911", "OMIM:604869", "UMLS:C1423047", "UniProtKB:Q9NYW5", "PR:Q9NYW5", "ENSEMBL:ENSP00000247881", "ENSEMBL:ENSP00000247881.3", "UMLS:C5226338", "MESH:C000654492"], "information_content": 100.0}
{"id": "MONDO:0001597", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "submandibular gland disorder", "equivalent_identifiers": ["MONDO:0001597", "DOID:12897", "UMLS:C0038557", "MESH:D013364", "medgen:52535"], "information_content": 86.3}
{"id": "NCBIGene:54429", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R5", "equivalent_identifiers": ["NCBIGene:54429", "ENSEMBL:ENSG00000127366", "HGNC:14912", "OMIM:605062", "UMLS:C1423048", "UniProtKB:A4D1U0", "UniProtKB:Q502V5", "UniProtKB:Q9NYW4", "PR:Q9NYW4", "ENSEMBL:ENSP00000247883", "ENSEMBL:ENSP00000247883.4"], "information_content": 100.0}
{"id": "MONDO:0004724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "submandibular gland cancer", "equivalent_identifiers": ["MONDO:0004724", "DOID:9173", "UMLS:C0153360", "MEDDRA:10026500", "NCIT:C3526", "SNOMEDCT:363380002", "medgen:57782", "ICD10:C08.0", "ICD9:142.1"], "information_content": 81.3}
{"id": "NCBIGene:27153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF777", "equivalent_identifiers": ["NCBIGene:27153", "ENSEMBL:ENSG00000196453", "HGNC:22213", "OMIM:619298", "UMLS:C1824050", "UniProtKB:Q9ULD5", "PR:Q9ULD5", "ENSEMBL:ENSP00000247930", "ENSEMBL:ENSP00000247930.4"], "information_content": 100.0}
{"id": "UniProtKB:P35475-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-L-iduronidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35475-1", "PR:P35475-1", "ENSEMBL:ENSP00000247933", "ENSEMBL:ENSP00000247933.4", "ENSEMBL:ENSP00000425081", "ENSEMBL:ENSP00000425081.2"], "information_content": 100.0}
{"id": "MONDO:0005296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sleep apnea", "equivalent_identifiers": ["MONDO:0005296", "DOID:0050847", "EFO:0003877", "UMLS:C0037315", "UMLS:C0236845", "UMLS:C4551689", "MESH:D012891", "MEDDRA:10006344", "MEDDRA:10040975", "MEDDRA:10040976", "MEDDRA:10040977", "MEDDRA:10040978", "MEDDRA:10040979", "MEDDRA:10040980", "MEDDRA:10053654", "MEDDRA:10055575", "NCIT:C148023", "NCIT:C26884", "SNOMEDCT:111489007", "SNOMEDCT:73430006", "medgen:11458", "ICD10:G47.3", "ICD9:780.57", "HP:0010535"], "information_content": 83.1}
{"id": "UniProtKB:Q96PQ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 317 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96PQ6-1", "PR:Q96PQ6-1", "ENSEMBL:ENSP00000247956", "ENSEMBL:ENSP00000247956.5"], "information_content": 100.0}
{"id": "MONDO:0004160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "female stress incontinence", "equivalent_identifiers": ["MONDO:0004160", "DOID:724", "UMLS:C0038437", "MEDDRA:10042214", "NCIT:C35042", "SNOMEDCT:60241006", "medgen:21346", "ICD9:625.6"], "information_content": 100.0}
{"id": "NCBIGene:5300", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIN1", "equivalent_identifiers": ["NCBIGene:5300", "ENSEMBL:ENSG00000127445", "HGNC:8988", "OMIM:601052", "UMLS:C1418582", "UniProtKB:Q13526", "PR:Q13526", "ENSEMBL:ENSP00000247970", "ENSEMBL:ENSP00000247970.5", "ENSEMBL:ENSP00000466962", "ENSEMBL:ENSP00000466962.1", "UMLS:C1453967", "MESH:C000606846"], "information_content": 95.4}
{"id": "UniProtKB:Q9P2E2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2E2-1", "PR:Q9P2E2-1", "ENSEMBL:ENSP00000247986", "ENSEMBL:ENSP00000247986.2"], "information_content": 100.0}
{"id": "UniProtKB:J3KMZ3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "J3KMZ3_HUMAN Phospholipase A2 (trembl)", "equivalent_identifiers": ["UniProtKB:J3KMZ3", "ENSEMBL:ENSP00000247992", "ENSEMBL:ENSP00000247992.5"]}
{"id": "MONDO:0001455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal lattice degeneration", "equivalent_identifiers": ["MONDO:0001455", "DOID:12165", "UMLS:C0154856", "MEDDRA:10024040", "SNOMEDCT:3577000", "medgen:102321", "ICD10:H35.41", "ICD9:362.63", "HP:0007992"], "information_content": 100.0}
{"id": "NCBIGene:10365", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLF2", "equivalent_identifiers": ["NCBIGene:10365", "ENSEMBL:ENSG00000127528", "HGNC:6347", "OMIM:602016", "UMLS:C1416659", "UniProtKB:Q9Y5W3", "PR:Q9Y5W3", "ENSEMBL:ENSP00000248071", "ENSEMBL:ENSP00000248071.5", "UMLS:C1456423", "UMLS:C5202871", "MESH:C096161"], "information_content": 100.0}
{"id": "NCBIGene:9002", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "F2RL3", "equivalent_identifiers": ["NCBIGene:9002", "ENSEMBL:ENSG00000127533", "HGNC:3540", "OMIM:602779", "UMLS:C1414508", "UniProtKB:Q96RI0", "PR:Q96RI0", "ENSEMBL:ENSP00000248076", "ENSEMBL:ENSP00000248076.2", "UMLS:C1449190"], "information_content": 92.8}
{"id": "UniProtKB:Q9H910-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "jupiter microtubule associated homolog 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H910-1", "PR:Q9H910-1", "ENSEMBL:ENSP00000248098", "ENSEMBL:ENSP00000248098.3"], "information_content": 100.0}
{"id": "MONDO:0009653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucolipidosis type IV", "equivalent_identifiers": ["MONDO:0009653", "DOID:0080490", "OMIM:252650", "orphanet:578", "UMLS:C0238286", "MEDDRA:10072930", "NCIT:C84896", "SNOMEDCT:111384001", "SNOMEDCT:725296006", "medgen:68663"], "information_content": 100.0}
{"id": "UniProtKB:P55789-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FAD-linked sulfhydryl oxidase ALR isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P55789-1", "PR:P55789-1", "ENSEMBL:ENSP00000248114", "ENSEMBL:ENSP00000248114.6", "ENSEMBL:ENSP00000517599", "ENSEMBL:ENSP00000517599.1"], "information_content": 100.0}
{"id": "NCBIGene:9143", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYNGR3", "equivalent_identifiers": ["NCBIGene:9143", "ENSEMBL:ENSG00000127561", "HGNC:11501", "OMIM:603927", "UMLS:C1420550", "UniProtKB:O43761", "PR:O43761", "ENSEMBL:ENSP00000248121", "ENSEMBL:ENSP00000248121.2", "ENSEMBL:ENSP00000517596", "ENSEMBL:ENSP00000517596.1", "UMLS:C2715563", "MESH:C540370"], "information_content": 95.4}
{"id": "MONDO:0013826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 86", "equivalent_identifiers": ["MONDO:0013826", "DOID:0110532", "OMIM:614617", "UMLS:C2829265", "medgen:760543"], "information_content": 100.0}
{"id": "MONDO:0013386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 74", "equivalent_identifiers": ["MONDO:0013386", "DOID:0110523", "OMIM:613718", "UMLS:C2239351", "medgen:453237"], "information_content": 100.0}
{"id": "UniProtKB:Q96S21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-40C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96S21-1", "PR:Q96S21-1", "ENSEMBL:ENSP00000248139", "ENSEMBL:ENSP00000248139.3", "ENSEMBL:ENSP00000438382", "ENSEMBL:ENSP00000438382.1", "ENSEMBL:ENSP00000438492", "ENSEMBL:ENSP00000438492.1", "ENSEMBL:ENSP00000445050", "ENSEMBL:ENSP00000445050.1"], "information_content": 100.0}
{"id": "NCBIGene:7556", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF10", "equivalent_identifiers": ["NCBIGene:7556", "ENSEMBL:ENSG00000256223", "HGNC:12879", "OMIM:194538", "UMLS:C1421588", "UniProtKB:P21506", "PR:P21506", "ENSEMBL:ENSP00000248211", "ENSEMBL:ENSP00000248211.6", "ENSEMBL:ENSP00000393814", "ENSEMBL:ENSP00000393814.2", "UMLS:C1431094", "MESH:C109484"], "information_content": 100.0}
{"id": "NCBIGene:148022", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TICAM1", "equivalent_identifiers": ["NCBIGene:148022", "ENSEMBL:ENSG00000127666", "HGNC:18348", "OMIM:607601", "UMLS:C1843476", "UniProtKB:Q8IUC6", "PR:Q8IUC6", "ENSEMBL:ENSP00000248244", "ENSEMBL:ENSP00000248244.4", "UMLS:C1173542", "MESH:C470409"], "information_content": 90.9}
{"id": "UniProtKB:Q7L1V2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar fusion protein MON1 homolog B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L1V2-1", "PR:Q7L1V2-1", "ENSEMBL:ENSP00000248248", "ENSEMBL:ENSP00000248248.3"], "information_content": 100.0}
{"id": "MONDO:0033310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 31", "equivalent_identifiers": ["MONDO:0033310", "DOID:0080277", "OMIM:617761", "UMLS:C4540355", "medgen:1618082"], "information_content": 100.0}
{"id": "MONDO:0014621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome 9", "equivalent_identifiers": ["MONDO:0014621", "DOID:0110226", "OMIM:616399", "UMLS:C4225340", "medgen:903155"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBQ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 3 subunit K isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBQ5-1", "PR:Q9UBQ5-1", "ENSEMBL:ENSP00000248342", "ENSEMBL:ENSP00000248342.3", "ENSEMBL:ENSP00000489438", "ENSEMBL:ENSP00000489438.1"], "information_content": 100.0}
{"id": "NCBIGene:8388", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR1E2", "equivalent_identifiers": ["NCBIGene:8388", "ENSEMBL:ENSG00000127780", "HGNC:8190", "UMLS:C1417993", "UniProtKB:A0A126GW81", "UniProtKB:P47887", "PR:P47887", "ENSEMBL:ENSP00000248384", "ENSEMBL:ENSP00000248384.1"], "information_content": 100.0}
{"id": "MONDO:0009249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary fructose intolerance", "equivalent_identifiers": ["MONDO:0009249", "DOID:9869", "OMIM:229600", "orphanet:469", "UMLS:C0016751", "MESH:D005633", "MEDDRA:10017397", "MEDDRA:10019878", "MEDDRA:10072104", "NCIT:C84720", "SNOMEDCT:20052008", "medgen:42105", "icd11.foundation:1925240365", "ICD10:E74.12", "ICD9:271.2", "HP:0005973"], "information_content": 100.0}
{"id": "UniProtKB:P68366-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin alpha-4A chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P68366-1", "PR:P68366-1", "ENSEMBL:ENSP00000248437", "ENSEMBL:ENSP00000248437.4"], "information_content": 100.0}
{"id": "UniProtKB:P09327-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "villin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P09327-1", "PR:P09327-1", "ENSEMBL:ENSP00000248444", "ENSEMBL:ENSP00000248444.5"], "information_content": 100.0}
{"id": "MONDO:0005717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "contagious pustular dermatitis", "equivalent_identifiers": ["MONDO:0005717", "DOID:8771", "EFO:0007222", "UMLS:C0013570", "MESH:D004474", "MEDDRA:10006047", "MEDDRA:10006048", "MEDDRA:10010806", "MEDDRA:10031071", "MEDDRA:10053044", "SNOMEDCT:74050005", "medgen:41702", "ICD10:B08.02", "ICD9:051.2"], "information_content": 100.0}
{"id": "NCBIGene:3315", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPB1", "equivalent_identifiers": ["NCBIGene:3315", "ENSEMBL:ENSG00000106211", "HGNC:5246", "OMIM:602195", "UMLS:C1333928", "UniProtKB:P04792", "PR:P04792", "ENSEMBL:ENSP00000248553", "ENSEMBL:ENSP00000248553.6", "UMLS:C1447061", "MESH:C057725", "UniProtKB:V9HW43"], "information_content": 83.6}
{"id": "NCBIGene:2791", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNG11", "equivalent_identifiers": ["NCBIGene:2791", "ENSEMBL:ENSG00000127920", "HGNC:4403", "OMIM:604390", "UMLS:C1415154", "UniProtKB:P61952", "PR:P61952", "ENSEMBL:ENSP00000248564", "ENSEMBL:ENSP00000248564.4", "UMLS:C3814430", "UniProtKB:Q53Y01"], "information_content": 95.4}
{"id": "NCBIGene:2792", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNGT1", "equivalent_identifiers": ["NCBIGene:2792", "ENSEMBL:ENSG00000127928", "HGNC:4411", "OMIM:189970", "UMLS:C1415161", "UniProtKB:P63211", "PR:P63211", "ENSEMBL:ENSP00000248572", "ENSEMBL:ENSP00000248572.5", "ENSEMBL:ENSP00000388777", "ENSEMBL:ENSP00000388777.1"], "information_content": 92.8}
{"id": "MONDO:0011601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal intrahepatic cholestasis due to citrin deficiency", "equivalent_identifiers": ["MONDO:0011601", "DOID:0070341", "OMIM:605814", "orphanet:247598", "UMLS:C1853942", "MESH:C536398", "SNOMEDCT:717155003", "medgen:340091"], "information_content": 100.0}
{"id": "UniProtKB:Q05209-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein phosphatase non-receptor type 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q05209-1", "PR:Q05209-1", "ENSEMBL:ENSP00000248594", "ENSEMBL:ENSP00000248594.6"], "information_content": 100.0}
{"id": "MONDO:0018824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyoderma gangrenosum", "equivalent_identifiers": ["MONDO:0018824", "DOID:8553", "orphanet:48104", "EFO:0006835", "UMLS:C0085652", "MESH:D017511", "MEDDRA:10037634", "MEDDRA:10037635", "MEDDRA:10037636", "SNOMEDCT:74578003", "medgen:43224", "icd11.foundation:2120746218", "ICD10:L88", "ICD9:686.01", "HP:0025452"], "information_content": 89.4}
{"id": "NCBIGene:10875", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGL2", "equivalent_identifiers": ["NCBIGene:10875", "ENSEMBL:ENSG00000127951", "HGNC:3696", "OMIM:605351", "UMLS:C1414609", "UniProtKB:A4D1B8", "UniProtKB:Q14314", "PR:Q14314", "ENSEMBL:ENSP00000248598", "ENSEMBL:ENSP00000248598.5", "UMLS:C1451210", "MESH:C095202"], "information_content": 88.2}
{"id": "UniProtKB:Q9Y6J8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine/tyrosine-interacting-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6J8-1", "PR:Q9Y6J8-1", "ENSEMBL:ENSP00000248600", "ENSEMBL:ENSP00000248600.1", "ENSEMBL:ENSP00000352726", "ENSEMBL:ENSP00000352726.3", "ENSEMBL:ENSP00000392221", "ENSEMBL:ENSP00000392221.1"], "information_content": 100.0}
{"id": "UniProtKB:O43933-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal ATPase PEX1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43933-1", "PR:O43933-1", "ENSEMBL:ENSP00000248633", "ENSEMBL:ENSP00000248633.4"], "information_content": 100.0}
{"id": "DOID:0080623", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heimler syndrome 1", "equivalent_identifiers": ["DOID:0080623"]}
{"id": "MONDO:0009855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "d-bifunctional protein deficiency", "equivalent_identifiers": ["MONDO:0009855", "DOID:0090031", "OMIM:261515", "orphanet:300", "UMLS:C0342870", "NCIT:C119676", "SNOMEDCT:238068007", "medgen:137982", "ICD10:E71.3"], "information_content": 100.0}
{"id": "MONDO:0012624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acyl-CoA dehydrogenase 9 deficiency", "equivalent_identifiers": ["MONDO:0012624", "DOID:0112072", "OMIM:611126", "orphanet:99901", "UMLS:C1970173", "UMLS:C4747517", "MESH:C567006", "MEDDRA:10081518", "SNOMEDCT:725046003", "medgen:1648400"], "information_content": 100.0}
{"id": "MONDO:0009787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria type 3", "equivalent_identifiers": ["MONDO:0009787", "DOID:0110004", "OMIM:258501", "orphanet:67047", "UMLS:C0574084", "MESH:C535311", "SNOMEDCT:297232009", "medgen:108273", "icd11.foundation:535412248"], "information_content": 100.0}
{"id": "MONDO:0013875", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome", "equivalent_identifiers": ["MONDO:0013875", "DOID:0110001", "OMIM:614739", "orphanet:352328", "UMLS:C4040739", "SNOMEDCT:711409002", "medgen:873604"], "information_content": 100.0}
{"id": "DOID:0112133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe congenital neutropenia 3", "equivalent_identifiers": ["DOID:0112133"]}
{"id": "NCBIGene:7978", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTERF1", "equivalent_identifiers": ["NCBIGene:7978", "ENSEMBL:ENSG00000127989", "HGNC:21463", "OMIM:602318", "UMLS:C1826316", "UniProtKB:B4DPR9", "ENSEMBL:ENSP00000384986", "ENSEMBL:ENSP00000384986.2", "ENSEMBL:ENSP00000414116", "ENSEMBL:ENSP00000414116.1", "UMLS:C1430725", "MESH:C105178", "UniProtKB:Q99551", "PR:Q99551", "ENSEMBL:ENSP00000248643", "ENSEMBL:ENSP00000248643.3"], "information_content": 95.4}
{"id": "NCBIGene:57622", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRFN1", "equivalent_identifiers": ["NCBIGene:57622", "ENSEMBL:ENSG00000128011", "HGNC:29290", "OMIM:612807", "UMLS:C1428825", "UniProtKB:Q9P244", "PR:Q9P244", "ENSEMBL:ENSP00000248668", "ENSEMBL:ENSP00000248668.4", "ENSEMBL:ENSP00000517478", "ENSEMBL:ENSP00000517478.1"], "information_content": 95.4}
{"id": "UniProtKB:Q96RT7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-tubulin complex component 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RT7-1", "PR:Q96RT7-1", "ENSEMBL:ENSP00000248846", "ENSEMBL:ENSP00000248846.5"], "information_content": 100.0}
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{"id": "MONDO:0012905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 6", "equivalent_identifiers": ["MONDO:0012905", "DOID:0060798", "OMIM:612438", "orphanet:139441", "UMLS:C2676244", "MESH:C567314", "NCIT:C183310", "SNOMEDCT:724283004", "medgen:436642"], "information_content": 100.0}
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{"id": "MONDO:0000680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "astereognosia", "equivalent_identifiers": ["MONDO:0000680", "DOID:0060150", "UMLS:C0234505", "UMLS:C5848065", "MEDDRA:10056477", "SNOMEDCT:25094008", "medgen:65881", "icd11.foundation:756147896", "HP:0010527"], "information_content": 95.4}
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{"id": "MONDO:0009285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Glutathionuria", "equivalent_identifiers": ["MONDO:0009285", "DOID:0111257", "OMIM:231950", "orphanet:33573", "UMLS:C0268524", "MESH:C536836", "SNOMEDCT:78586005", "medgen:82813", "icd11.foundation:2074850874"], "information_content": 100.0}
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{"id": "MONDO:0013026", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subepithelial mucinous corneal dystrophy", "equivalent_identifiers": ["MONDO:0013026", "DOID:0060454", "OMIM:612867", "orphanet:98959", "UMLS:C2748503", "MESH:C567547", "SNOMEDCT:723582004", "medgen:411595", "icd11.foundation:943706174"], "information_content": 100.0}
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{"id": "MONDO:0014197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to MALT1 deficiency", "equivalent_identifiers": ["MONDO:0014197", "DOID:0111988", "OMIM:615468", "orphanet:397964", "UMLS:C3809583", "medgen:815913"], "information_content": 100.0}
{"id": "UniProtKB:Q00587-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Cdc42 effector protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q00587-1", "PR:Q00587-1", "ENSEMBL:ENSP00000249014", "ENSEMBL:ENSP00000249014.4"], "information_content": 100.0}
{"id": "MONDO:0011359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromelic frontonasal dysostosis", "equivalent_identifiers": ["MONDO:0011359", "DOID:0060342", "OMIM:603671", "orphanet:1827", "UMLS:C0796182", "UMLS:C1863616", "MESH:C535657", "MESH:C566345", "SNOMEDCT:715427008", "medgen:350933"], "information_content": 100.0}
{"id": "NCBIGene:2847", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MCHR1", "equivalent_identifiers": ["NCBIGene:2847", "ENSEMBL:ENSG00000128285", "HGNC:4479", "OMIM:601751", "UMLS:C1825952", "UniProtKB:Q99705", "PR:Q99705", "ENSEMBL:ENSP00000249016", "ENSEMBL:ENSP00000249016.5", "UMLS:C0533522", "MESH:C103263"], "information_content": 100.0}
{"id": "NCBIGene:8484", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GALR3", "equivalent_identifiers": ["NCBIGene:8484", "ENSEMBL:ENSG00000128310", "HGNC:4134", "OMIM:603692", "UMLS:C1414961", "UniProtKB:O60755", "PR:O60755", "ENSEMBL:ENSP00000249041", "ENSEMBL:ENSP00000249041.2", "UMLS:C5196923", "MESH:C000630471"], "information_content": 100.0}
{"id": "NCBIGene:80831", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOL5", "equivalent_identifiers": ["NCBIGene:80831", "ENSEMBL:ENSG00000128313", "HGNC:14869", "OMIM:607255", "UMLS:C1423012", "UniProtKB:Q9BWW9", "PR:Q9BWW9", "ENSEMBL:ENSP00000249044", "ENSEMBL:ENSP00000249044.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWD4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 117 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWD4-1", "PR:Q8IWD4-1", "ENSEMBL:ENSP00000249064", "ENSEMBL:ENSP00000249064.4"], "information_content": 100.0}
{"id": "MONDO:0007908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple symmetric lipomatosis", "equivalent_identifiers": ["MONDO:0007908", "DOID:14116", "OMIM:151800", "orphanet:2398", "EFO:1000737", "UMLS:C0023804", "UMLS:C0028253", "MESH:D008069", "MEDDRA:10084240", "MEDDRA:10084242", "NCIT:C4392", "SNOMEDCT:238902007", "SNOMEDCT:65245004", "medgen:7349"], "information_content": 100.0}
{"id": "NCBIGene:23780", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOL2", "equivalent_identifiers": ["NCBIGene:23780", "ENSEMBL:ENSG00000128335", "HGNC:619", "OMIM:607252", "UMLS:C1412486", "UniProtKB:Q9BQE5", "PR:Q9BQE5", "ENSEMBL:ENSP00000249066", "ENSEMBL:ENSP00000249066.6", "ENSEMBL:ENSP00000351292", "ENSEMBL:ENSP00000351292.5", "UMLS:C2742259", "MESH:C543112"], "information_content": 100.0}
{"id": "MONDO:0005912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phencyclidine abuse", "equivalent_identifiers": ["MONDO:0005912", "DOID:5062", "EFO:0007436", "UMLS:C0031391", "MESH:D010623", "SNOMEDCT:7071007", "medgen:19234"], "information_content": 100.0}
{"id": "MONDO:0011196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 5", "equivalent_identifiers": ["MONDO:0011196", "DOID:0060197", "OMIM:602099", "UMLS:C1865864", "MESH:C566576", "SNOMEDCT:1201961000", "medgen:356388"], "information_content": 100.0}
{"id": "MONDO:0013465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achromatopsia 4", "equivalent_identifiers": ["MONDO:0013465", "DOID:0110010", "OMIM:613856", "UMLS:C1841721", "MESH:C564206", "medgen:330669"], "information_content": 100.0}
{"id": "NCBIGene:5880", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAC2", "equivalent_identifiers": ["NCBIGene:5880", "ENSEMBL:ENSG00000128340", "HGNC:9802", "OMIM:602049", "UMLS:C1419228", "UniProtKB:P15153", "PR:P15153", "ENSEMBL:ENSP00000249071", "ENSEMBL:ENSP00000249071.6", "UMLS:C1740187", "MESH:C000727991", "UniProtKB:V9H0H7"], "information_content": 86.3}
{"id": "UniProtKB:P15018-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukemia inhibitory factor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P15018-1", "PR:P15018-1", "ENSEMBL:ENSP00000249075", "ENSEMBL:ENSP00000249075.3"], "information_content": 100.0}
{"id": "NCBIGene:9512", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PMPCB", "equivalent_identifiers": ["NCBIGene:9512", "ENSEMBL:ENSG00000105819", "HGNC:9119", "OMIM:603131", "UMLS:C1418678", "UniProtKB:A0A9L9PXG6", "ENSEMBL:ENSP00000516381", "ENSEMBL:ENSP00000516381.1", "ENSEMBL:ENSP00000516384", "ENSEMBL:ENSP00000516384.1", "ENSEMBL:ENSP00000516386", "ENSEMBL:ENSP00000516386.1", "ENSEMBL:ENSP00000516390", "ENSEMBL:ENSP00000516390.1", "UniProtKB:A0A9L9PXH0", "ENSEMBL:ENSP00000516391", "ENSEMBL:ENSP00000516391.1", "UMLS:C5391751", "MESH:C000707146", "UniProtKB:A0A9L9PXI7", "ENSEMBL:ENSP00000516392", "ENSEMBL:ENSP00000516392.1", "UniProtKB:B3KM34", "UniProtKB:G3V0E4", "ENSEMBL:ENSP00000390035", "ENSEMBL:ENSP00000390035.1", "UniProtKB:O75439", "PR:O75439", "ENSEMBL:ENSP00000249269", "ENSEMBL:ENSP00000249269.4", "UniProtKB:Q96CP5"], "information_content": 87.2}
{"id": "MONDO:0030281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis multiplex congenita 6", "equivalent_identifiers": ["MONDO:0030281", "DOID:0070336", "OMIM:619334", "UMLS:C5543431", "medgen:1786758"], "information_content": 100.0}
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{"id": "MONDO:0000820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral cavernous malformation", "equivalent_identifiers": ["MONDO:0000820", "DOID:0060669", "UMLS:C2919945", "MEDDRA:10071747", "NCIT:C84626", "SNOMEDCT:444869007", "medgen:418825", "icd11.foundation:916773262", "HP:0033522"], "information_content": 87.2}
{"id": "NCBIGene:4189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJB9", "equivalent_identifiers": ["NCBIGene:4189", "ENSEMBL:ENSG00000128590", "HGNC:6968", "OMIM:602634", "UMLS:C1417086", "UniProtKB:Q6FIF1", "UMLS:C1312334", "MESH:C478021", "UniProtKB:Q9UBS3", "PR:Q9UBS3", "ENSEMBL:ENSP00000249356", "ENSEMBL:ENSP00000249356.3"], "information_content": 100.0}
{"id": "MONDO:0002462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glomerulonephritis", "equivalent_identifiers": ["MONDO:0002462", "DOID:2921", "UMLS:C0017658", "MESH:D005921", "MEDDRA:10018364", "MEDDRA:10018375", "MEDDRA:10029143", "NCIT:C26784", "SNOMEDCT:36171008", "medgen:6616", "HP:0000099"], "information_content": 72.3}
{"id": "NCBIGene:64101", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC4", "equivalent_identifiers": ["NCBIGene:64101", "ENSEMBL:ENSG00000128594", "HGNC:15586", "OMIM:610486", "UMLS:C1423596", "UniProtKB:Q9HBW1", "PR:Q9HBW1", "ENSEMBL:ENSP00000249363", "ENSEMBL:ENSP00000249363.3", "UMLS:C1609772", "MESH:C503331"], "information_content": 95.4}
{"id": "NCBIGene:6608", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMO", "equivalent_identifiers": ["NCBIGene:6608", "ENSEMBL:ENSG00000128602", "HGNC:11119", "OMIM:601500", "UMLS:C1364142", "UniProtKB:Q99835", "PR:Q99835", "ENSEMBL:ENSP00000249373", "ENSEMBL:ENSP00000249373.3", "UMLS:C1311076", "MESH:C491023"], "information_content": 87.2}
{"id": "MONDO:0010035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Smith-Lemli-Opitz syndrome", "equivalent_identifiers": ["MONDO:0010035", "DOID:14692", "OMIM:270400", "orphanet:818", "UMLS:C0175694", "MESH:D019082", "MEDDRA:10078573", "NCIT:C85071", "SNOMEDCT:43929004", "medgen:61231", "icd11.foundation:1231469858", "ICD10:E78.72"], "information_content": 100.0}
{"id": "NCBIGene:611", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OPN1SW", "equivalent_identifiers": ["NCBIGene:611", "ENSEMBL:ENSG00000128617", "HGNC:1012", "OMIM:613522", "UMLS:C1412770", "UniProtKB:P03999", "PR:P03999", "ENSEMBL:ENSP00000249389", "ENSEMBL:ENSP00000249389.3"], "information_content": 90.9}
{"id": "UniProtKB:Q8IXJ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NAD-dependent protein deacetylase sirtuin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXJ6-1", "PR:Q8IXJ6-1", "ENSEMBL:ENSP00000249396", "ENSEMBL:ENSP00000249396.7", "ENSEMBL:ENSP00000489602", "ENSEMBL:ENSP00000489602.1"], "information_content": 100.0}
{"id": "MONDO:0000940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trypanosomiasis", "equivalent_identifiers": ["MONDO:0000940", "DOID:10113", "UMLS:C0041227", "MESH:D014352", "MEDDRA:10044707", "MEDDRA:10044709", "MEDDRA:10044710", "SNOMEDCT:78940002", "medgen:52872", "ICD10:B57.2", "ICD9:086"], "information_content": 88.2}
{"id": "UniProtKB:O75431-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metaxin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75431-1", "PR:O75431-1", "ENSEMBL:ENSP00000249442", "ENSEMBL:ENSP00000249442.6"], "information_content": 100.0}
{"id": "MONDO:0016584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mandibuloacral dysplasia", "equivalent_identifiers": ["MONDO:0016584", "DOID:0081127", "OMIM.PS:248370", "orphanet:2457", "UMLS:C0432291", "medgen:98485", "icd11.foundation:1687046570"], "information_content": 92.8}
{"id": "NCBIGene:3235", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXD9", "equivalent_identifiers": ["NCBIGene:3235", "ENSEMBL:ENSG00000128709", "HGNC:5140", "OMIM:142982", "UMLS:C1415691", "UniProtKB:P28356", "PR:P28356", "ENSEMBL:ENSP00000249499", "ENSEMBL:ENSP00000249499.6", "UMLS:C0258036", "MESH:C088822"], "information_content": 100.0}
{"id": "NCBIGene:3236", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXD10", "equivalent_identifiers": ["NCBIGene:3236", "ENSEMBL:ENSG00000128710", "HGNC:5133", "OMIM:142984", "UMLS:C1415684", "UniProtKB:P28358", "PR:P28358", "ENSEMBL:ENSP00000249501", "ENSEMBL:ENSP00000249501.4", "UMLS:C1447149", "MESH:C072064"], "information_content": 95.4}
{"id": "MONDO:0008652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vertical Talus", "equivalent_identifiers": ["MONDO:0008652", "DOID:0111568", "OMIM:192950", "orphanet:178382", "UMLS:C0240912", "MESH:C536345", "MEDDRA:10066242", "SNOMEDCT:205082007", "SNOMEDCT:205359003", "medgen:66821", "icd11.foundation:1525079646", "HP:0001838"], "information_content": 92.8}
{"id": "MONDO:0005515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oral cavity cancer", "equivalent_identifiers": ["MONDO:0005515", "DOID:8618", "EFO:0005570", "UMLS:C0153369", "UMLS:C0153381", "UMLS:C0496758", "MEDDRA:10025701", "MEDDRA:10026050", "MEDDRA:10026152", "MEDDRA:10026660", "MEDDRA:10028018", "MEDDRA:10031001", "NCIT:C194037", "NCIT:C194038", "NCIT:C9314", "NCIT:C9316", "SNOMEDCT:187652003", "SNOMEDCT:187653008", "SNOMEDCT:363505006", "medgen:56298", "ICD10:C04", "ICD10:C04.0", "ICD10:C04.1", "ICD9:144", "ICD9:144.0", "ICD9:144.1"], "information_content": 64.3}
{"id": "NCBIGene:3237", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXD11", "equivalent_identifiers": ["NCBIGene:3237", "ENSEMBL:ENSG00000128713", "HGNC:5134", "OMIM:142986", "UMLS:C1415685", "UniProtKB:P31277", "PR:P31277", "ENSEMBL:ENSP00000249504", "ENSEMBL:ENSP00000249504.5", "UMLS:C1448314", "UMLS:C3273504", "MESH:C489493"], "information_content": 100.0}
{"id": "UniProtKB:O00161-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptosomal-associated protein 23 isoform hSNAP-23a (human)", "equivalent_identifiers": ["UniProtKB:O00161-1", "PR:O00161-1", "ENSEMBL:ENSP00000249647", "ENSEMBL:ENSP00000249647.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZR1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tropomodulin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZR1-1", "PR:Q9NZR1-1", "ENSEMBL:ENSP00000249700", "ENSEMBL:ENSP00000249700.4"], "information_content": 100.0}
{"id": "NCBIGene:54567", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DLL4", "equivalent_identifiers": ["NCBIGene:54567", "ENSEMBL:ENSG00000128917", "HGNC:2910", "OMIM:605185", "UMLS:C1414072", "UniProtKB:Q9NR61", "PR:Q9NR61", "ENSEMBL:ENSP00000249749", "ENSEMBL:ENSP00000249749.5", "UMLS:C1447943", "UMLS:C2983553", "MESH:C424126"], "information_content": 92.8}
{"id": "UniProtKB:O94788-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinal dehydrogenase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O94788-1", "PR:O94788-1", "ENSEMBL:ENSP00000249750", "ENSEMBL:ENSP00000249750.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y448-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small kinetochore-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y448-1", "PR:Q9Y448-1", "ENSEMBL:ENSP00000249776", "ENSEMBL:ENSP00000249776.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWW5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ceroid-lipofuscinosis neuronal protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWW5-1", "PR:Q9NWW5-1", "ENSEMBL:ENSP00000249806", "ENSEMBL:ENSP00000249806.5"], "information_content": 100.0}
{"id": "NCBIGene:3671", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ISLR", "equivalent_identifiers": ["NCBIGene:3671", "ENSEMBL:ENSG00000129009", "HGNC:6133", "OMIM:602059", "UMLS:C1416481", "UniProtKB:A0A146E5L3", "UniProtKB:O14498", "PR:O14498", "ENSEMBL:ENSP00000249842", "ENSEMBL:ENSP00000249842.3", "ENSEMBL:ENSP00000378550", "ENSEMBL:ENSP00000378550.1", "ENSEMBL:ENSP00000499984", "ENSEMBL:ENSP00000499984.1", "ENSEMBL:ENSP00000500029", "ENSEMBL:ENSP00000500029.1", "UMLS:C1308272", "MESH:C108610"], "information_content": 90.9}
{"id": "NCBIGene:56906", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THAP10", "equivalent_identifiers": ["NCBIGene:56906", "ENSEMBL:ENSG00000129028", "HGNC:23193", "OMIM:612538", "UMLS:C1427979", "UniProtKB:Q9P2Z0", "PR:Q9P2Z0", "ENSEMBL:ENSP00000249861", "ENSEMBL:ENSP00000249861.4", "UMLS:C4705192", "MESH:C000626477"], "information_content": 100.0}
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{"id": "UniProtKB:O95243-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methyl-CpG-binding domain protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95243-1", "PR:O95243-1", "ENSEMBL:ENSP00000249910", "ENSEMBL:ENSP00000249910.1"], "information_content": 100.0}
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{"id": "UniProtKB:P17752-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tryptophan 5-hydroxylase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P17752-1", "PR:P17752-1", "ENSEMBL:ENSP00000250018", "ENSEMBL:ENSP00000250018.2", "ENSEMBL:ENSP00000508368", "ENSEMBL:ENSP00000508368.1"], "information_content": 100.0}
{"id": "NCBIGene:79733", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "E2F8", "equivalent_identifiers": ["NCBIGene:79733", "ENSEMBL:ENSG00000129173", "HGNC:24727", "OMIM:612047", "UMLS:C1825020", "UniProtKB:A0AVK6", "PR:A0AVK6", "ENSEMBL:ENSP00000250024", "ENSEMBL:ENSP00000250024.4", "ENSEMBL:ENSP00000434199", "ENSEMBL:ENSP00000434199.1", "ENSEMBL:ENSP00000481103", "ENSEMBL:ENSP00000481103.1", "UMLS:C1614979", "MESH:C504723"], "information_content": 95.4}
{"id": "UniProtKB:Q9BSJ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein PIMREG isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSJ6-1", "PR:Q9BSJ6-1", "ENSEMBL:ENSP00000250056", "ENSEMBL:ENSP00000250056.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNY5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 232 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9UNY5-1", "PR:Q9UNY5-1", "ENSEMBL:ENSP00000250076", "ENSEMBL:ENSP00000250076.3"], "information_content": 100.0}
{"id": "UniProtKB:P34810-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "macrosialin isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P34810-1", "PR:P34810-1", "ENSEMBL:ENSP00000250092", "ENSEMBL:ENSP00000250092.6"], "information_content": 100.0}
{"id": "MONDO:0018153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Erdheim-Chester disease", "equivalent_identifiers": ["MONDO:0018153", "DOID:4329", "orphanet:35687", "EFO:1000926", "UMLS:C0878675", "MESH:D031249", "MEDDRA:10060801", "NCIT:C53972", "SNOMEDCT:699537002", "SNOMEDCT:703711007", "medgen:163902", "icd11.foundation:1395439137", "icd11.foundation:146718003"], "information_content": 86.3}
{"id": "MONDO:0015534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile xanthogranuloma", "equivalent_identifiers": ["MONDO:0015534", "DOID:4424", "orphanet:158000", "EFO:1000311", "UMLS:C0043324", "UMLS:C5887061", "MESH:D014972", "MEDDRA:10089466", "NCIT:C3451", "SNOMEDCT:400031009", "SNOMEDCT:400204000", "medgen:12179", "icd11.foundation:98595592"], "information_content": 92.8}
{"id": "MONDO:0015347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multicentric reticulohistiocytosis", "equivalent_identifiers": ["MONDO:0015347", "DOID:11824", "orphanet:139436", "UMLS:C0311284", "MEDDRA:10070595", "NCIT:C27896", "SNOMEDCT:84241008", "medgen:86315", "icd11.foundation:977116795", "ICD10:E78.81"], "information_content": 100.0}
{"id": "MONDO:0002984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reticulohistiocytic granuloma", "equivalent_identifiers": ["MONDO:0002984", "DOID:4394", "UMLS:C0035290", "NCIT:C3356", "SNOMEDCT:15960008", "SNOMEDCT:404162004", "medgen:48431"], "information_content": 100.0}
{"id": "MONDO:0005945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhinoscleroma", "equivalent_identifiers": ["MONDO:0005945", "DOID:11336", "EFO:0007470", "UMLS:C0035468", "MESH:D012226", "MEDDRA:10039102", "MEDDRA:10063391", "SNOMEDCT:72409005", "medgen:20569", "icd11.foundation:1053615368", "ICD9:040.1"], "information_content": 100.0}
{"id": "MONDO:0004385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult xanthogranuloma", "equivalent_identifiers": ["MONDO:0004385", "DOID:7875", "UMLS:C1332220", "NCIT:C27514", "medgen:231363"], "information_content": 100.0}
{"id": "MONDO:0006658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arteriolosclerosis", "equivalent_identifiers": ["MONDO:0006658", "DOID:5162", "EFO:1000819", "UMLS:C0878486", "MESH:D050379", "NCIT:C35543", "SNOMEDCT:17941002", "medgen:209223"], "information_content": 90.9}
{"id": "MONDO:0002343", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "splenic hemangioma", "equivalent_identifiers": ["MONDO:0002343", "DOID:256", "UMLS:C0685201", "MEDDRA:10068123", "MEDDRA:10068127", "NCIT:C8541", "SNOMEDCT:93472004", "medgen:151930", "HP:0410268"], "information_content": 95.4}
{"id": "MONDO:0004618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diplegia of upper limb", "equivalent_identifiers": ["MONDO:0004618", "DOID:862", "UMLS:C0154701", "MEDDRA:10013034", "NCIT:C196040", "SNOMEDCT:54099005", "medgen:509631", "ICD10:G83.0", "ICD9:344.2"], "information_content": 100.0}
{"id": "NCBIGene:84817", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TXNDC17", "equivalent_identifiers": ["NCBIGene:84817", "ENSEMBL:ENSG00000129235", "HGNC:28218", "OMIM:616967", "UMLS:C1428681", "UniProtKB:A0A140VJY7", "UMLS:C1435507", "MESH:C482341", "UniProtKB:Q9BRA2", "PR:Q9BRA2", "ENSEMBL:ENSP00000250101", "ENSEMBL:ENSP00000250101.5"], "information_content": 92.8}
{"id": "NCBIGene:482", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP1B2", "equivalent_identifiers": ["NCBIGene:482", "ENSEMBL:ENSG00000129244", "HGNC:805", "OMIM:182331", "UMLS:C1412632", "UniProtKB:P14415", "PR:P14415", "ENSEMBL:ENSP00000250111", "ENSEMBL:ENSP00000250111.4", "UMLS:C1610475", "MESH:C504190"], "information_content": 95.4}
{"id": "NCBIGene:9513", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FXR2", "equivalent_identifiers": ["NCBIGene:9513", "ENSEMBL:ENSG00000129245", "HGNC:4024", "OMIM:605339", "UMLS:C1414873", "UniProtKB:P51116", "PR:P51116", "ENSEMBL:ENSP00000250113", "ENSEMBL:ENSP00000250113.7", "UMLS:C0384221", "MESH:C096915"], "information_content": 100.0}
{"id": "UniProtKB:O75352-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mannose-P-dolichol utilization defect 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75352-1", "PR:O75352-1", "ENSEMBL:ENSP00000250124", "ENSEMBL:ENSP00000250124.6"], "information_content": 100.0}
{"id": "MONDO:0001250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratomalacia", "equivalent_identifiers": ["MONDO:0001250", "DOID:11267", "UMLS:C0152455", "MESH:C536156", "MEDDRA:10023361", "MEDDRA:10023362", "SNOMEDCT:85149007", "medgen:57777", "icd11.foundation:497316188", "ICD10:H18.44", "ICD9:371.45"], "information_content": 100.0}
{"id": "MONDO:0013563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1", "equivalent_identifiers": ["MONDO:0013563", "DOID:0080138", "OMIM:614080", "orphanet:280633", "UMLS:C3279775", "NCIT:C176896", "medgen:481405"], "information_content": 100.0}
{"id": "UniProtKB:O95388-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCN family member 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95388-1", "PR:O95388-1", "ENSEMBL:ENSP00000250160", "ENSEMBL:ENSP00000250160.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXR0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "queuine tRNA-ribosyltransferase catalytic subunit 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXR0-1", "PR:Q9BXR0-1", "ENSEMBL:ENSP00000250237", "ENSEMBL:ENSP00000250237.4"], "information_content": 100.0}
{"id": "MONDO:0000736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "freckles", "equivalent_identifiers": ["MONDO:0000736", "DOID:0060304", "OMIM.PS:127500", "orphanet:241", "EFO:0003963", "UMLS:C0016689", "UMLS:C0025209", "UMLS:C1306229", "UMLS:C2930995", "MESH:C535730", "MESH:D008548", "MEDDRA:10014970", "MEDDRA:10017338", "MEDDRA:10027157", "MEDDRA:10064128", "NCIT:C173131", "NCIT:C204908", "SNOMEDCT:239082002", "SNOMEDCT:403536009", "SNOMEDCT:414662006", "SNOMEDCT:48010006", "SNOMEDCT:699225003", "medgen:419691", "HP:0001480"], "information_content": 90.9}
{"id": "MONDO:0004675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial encephalomyopathy", "equivalent_identifiers": ["MONDO:0004675", "DOID:890", "UMLS:C0162666", "MESH:D017237", "MEDDRA:10058799", "SNOMEDCT:447292006", "medgen:57960"], "information_content": 83.1}
{"id": "MONDO:0007619", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adermatoglyphia", "equivalent_identifiers": ["MONDO:0007619", "DOID:0111357", "OMIM:136000", "orphanet:289465", "UMLS:C1852150", "UMLS:C4706567", "MESH:C565010", "MEDDRA:10076974", "SNOMEDCT:763748007", "medgen:338875", "HP:0007455"], "information_content": 100.0}
{"id": "NCBIGene:90459", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERI1", "equivalent_identifiers": ["NCBIGene:90459", "ENSEMBL:ENSG00000104626", "HGNC:23994", "OMIM:608739", "UMLS:C1823271", "UniProtKB:Q8IV48", "PR:Q8IV48", "ENSEMBL:ENSP00000250263", "ENSEMBL:ENSP00000250263.7", "ENSEMBL:ENSP00000430190", "ENSEMBL:ENSP00000430190.1", "UMLS:C1435334", "MESH:C482201"], "information_content": 95.4}
{"id": "NCBIGene:6320", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLEC11A", "equivalent_identifiers": ["NCBIGene:6320", "ENSEMBL:ENSG00000105472", "HGNC:10576", "OMIM:604713", "UMLS:C1539105", "UniProtKB:Q9Y240", "PR:Q9Y240", "ENSEMBL:ENSP00000250340", "ENSEMBL:ENSP00000250340.3", "UMLS:C0671154", "UMLS:C3888289", "MESH:C110532"], "information_content": 84.2}
{"id": "UniProtKB:Q9UKR0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kallikrein-12 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKR0-2", "PR:Q9UKR0-2", "ENSEMBL:ENSP00000250351", "ENSEMBL:ENSP00000250351.4"], "information_content": 100.0}
{"id": "UniProtKB:P23946-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chymase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P23946-1", "PR:P23946-1", "ENSEMBL:ENSP00000250378", "ENSEMBL:ENSP00000250378.3"], "information_content": 100.0}
{"id": "UniProtKB:Q92843-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Bcl-2-like protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92843-1", "PR:Q92843-1", "ENSEMBL:ENSP00000250405", "ENSEMBL:ENSP00000250405.6", "ENSEMBL:ENSP00000503012", "ENSEMBL:ENSP00000503012.1", "ENSEMBL:ENSP00000503091", "ENSEMBL:ENSP00000503091.1", "ENSEMBL:ENSP00000503368", "ENSEMBL:ENSP00000503368.1", "ENSEMBL:ENSP00000504570", "ENSEMBL:ENSP00000504570.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGN5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly [ADP-ribose] polymerase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGN5-1", "PR:Q9UGN5-1", "ENSEMBL:ENSP00000250416", "ENSEMBL:ENSP00000250416.5", "ENSEMBL:ENSP00000517362", "ENSEMBL:ENSP00000517362.1"], "information_content": 100.0}
{"id": "UniProtKB:P55317-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hepatocyte nuclear factor 3-alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P55317-1", "PR:P55317-1", "ENSEMBL:ENSP00000250448", "ENSEMBL:ENSP00000250448.3"], "information_content": 100.0}
{"id": "MONDO:0003060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "biliary tract cancer", "equivalent_identifiers": ["MONDO:0003060", "DOID:4607", "UMLS:C0750952", "MEDDRA:10025734", "SNOMEDCT:363415003", "medgen:155474", "ICD10:C24.9", "ICD9:156.9"], "information_content": 74.1}
{"id": "MONDO:0008380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinoblastoma", "equivalent_identifiers": ["MONDO:0008380", "DOID:4648", "DOID:768", "OMIM:180200", "orphanet:790", "UMLS:C0035335", "UMLS:C0751483", "MESH:D012175", "MEDDRA:10038916", "MEDDRA:10038918", "NCIT:C7541", "NCIT:C8495", "SNOMEDCT:19906005", "SNOMEDCT:370967009", "medgen:20552", "icd11.foundation:1855353671", "HP:0009919"], "information_content": 75.0}
{"id": "MONDO:0005517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pharynx cancer", "equivalent_identifiers": ["MONDO:0005517", "DOID:0060119", "EFO:0005577", "UMLS:C0153405", "MESH:D010610", "MEDDRA:10026346", "MEDDRA:10034811", "MEDDRA:10034819", "MEDDRA:10034857", "NCIT:C7545", "SNOMEDCT:363507003", "medgen:57554"], "information_content": 63.3}
{"id": "MONDO:0000553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uterine corpus endometrial carcinoma", "equivalent_identifiers": ["MONDO:0000553", "DOID:0050939"], "information_content": 100.0}
{"id": "NCBIGene:55837", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EAPP", "equivalent_identifiers": ["NCBIGene:55837", "ENSEMBL:ENSG00000129518", "HGNC:19312", "OMIM:609486", "UMLS:C1426158", "UniProtKB:Q56P03", "PR:Q56P03", "ENSEMBL:ENSP00000250454", "ENSEMBL:ENSP00000250454.3", "UMLS:C1611486", "MESH:C503749"], "information_content": 100.0}
{"id": "MONDO:0013272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 14q11-q22 deletion syndrome", "equivalent_identifiers": ["MONDO:0013272", "DOID:0060392", "OMIM:613457", "orphanet:261120", "UMLS:C3150707", "UMLS:C4304999", "SNOMEDCT:719047001", "medgen:462057"], "information_content": 100.0}
{"id": "NCBIGene:112399", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EGLN3", "equivalent_identifiers": ["NCBIGene:112399", "ENSEMBL:ENSG00000129521", "HGNC:14661", "OMIM:606426", "UMLS:C1422820", "UniProtKB:B3KVT0", "UMLS:C1505778", "MESH:C488894", "UniProtKB:F8W1G2", "ENSEMBL:ENSP00000447470", "ENSEMBL:ENSP00000447470.1", "UniProtKB:Q3T1B0", "UniProtKB:Q9H6Z9", "PR:Q9H6Z9", "ENSEMBL:ENSP00000250457", "ENSEMBL:ENSP00000250457.4"], "information_content": 92.8}
{"id": "NCBIGene:4738", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEDD8", "equivalent_identifiers": ["NCBIGene:4738", "ENSEMBL:ENSG00000129559", "HGNC:7732", "OMIM:603171", "UMLS:C1417663", "UniProtKB:Q15843", "PR:Q15843", "ENSEMBL:ENSP00000250495", "ENSEMBL:ENSP00000250495.5", "ENSEMBL:ENSP00000496420", "ENSEMBL:ENSP00000496420.1", "UMLS:C1669513", "MESH:C082860"], "information_content": 92.8}
{"id": "NCBIGene:1603", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DAD1", "equivalent_identifiers": ["NCBIGene:1603", "ENSEMBL:ENSG00000129562", "HGNC:2664", "OMIM:600243", "UMLS:C1413900", "UniProtKB:P61803", "PR:P61803", "ENSEMBL:ENSP00000250498", "ENSEMBL:ENSP00000250498.4", "UMLS:C0220374", "MESH:C083331", "UniProtKB:Q53G02"], "information_content": 92.8}
{"id": "NCBIGene:1036", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDO1", "equivalent_identifiers": ["NCBIGene:1036", "ENSEMBL:ENSG00000129596", "HGNC:1795", "OMIM:603943", "UMLS:C1413295", "UniProtKB:Q16878", "PR:Q16878", "ENSEMBL:ENSP00000250535", "ENSEMBL:ENSP00000250535.4", "UMLS:C3657661", "MESH:C579734"], "information_content": 95.4}
{"id": "UniProtKB:P61224-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rap-1b isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61224-1", "PR:P61224-1", "ENSEMBL:ENSP00000250559", "ENSEMBL:ENSP00000250559.9", "ENSEMBL:ENSP00000377085", "ENSEMBL:ENSP00000377085.5", "ENSEMBL:ENSP00000439966", "ENSEMBL:ENSP00000439966.1", "ENSEMBL:ENSP00000441275", "ENSEMBL:ENSP00000441275.1"], "information_content": 100.0}
{"id": "UniProtKB:Q16613-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serotonin N-acetyltransferase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16613-2", "PR:Q16613-2", "ENSEMBL:ENSP00000250615", "ENSEMBL:ENSP00000250615.2"], "information_content": 100.0}
{"id": "UniProtKB:Q15052-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15052-1", "PR:Q15052-1", "ENSEMBL:ENSP00000250617", "ENSEMBL:ENSP00000250617.6"], "information_content": 100.0}
{"id": "NCBIGene:417", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ART1", "equivalent_identifiers": ["NCBIGene:417", "ENSEMBL:ENSG00000129744", "HGNC:723", "OMIM:601625", "UMLS:C1412562", "UniProtKB:P52961", "PR:P52961", "ENSEMBL:ENSP00000250693", "ENSEMBL:ENSP00000250693.1", "UMLS:C0388619", "MESH:C449301"], "information_content": 100.0}
{"id": "NCBIGene:57053", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHRNA10", "equivalent_identifiers": ["NCBIGene:57053", "ENSEMBL:ENSG00000129749", "HGNC:13800", "OMIM:606372", "UMLS:C1422200", "UniProtKB:C4IXS7", "UMLS:C1529679", "MESH:C493739", "UniProtKB:Q9GZZ6", "PR:Q9GZZ6", "ENSEMBL:ENSP00000250699", "ENSEMBL:ENSP00000250699.2"], "information_content": 95.4}
{"id": "NCBIGene:6192", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS4Y1", "equivalent_identifiers": ["NCBIGene:6192", "ENSEMBL:ENSG00000129824", "HGNC:10425", "OMIM:470000", "UMLS:C1539689", "UniProtKB:P22090", "PR:P22090", "ENSEMBL:ENSP00000250784", "ENSEMBL:ENSP00000250784.7", "UMLS:C5565005", "MESH:C000719669"], "information_content": 92.8}
{"id": "UniProtKB:O14598", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "VCY1_HUMAN Testis-specific basic protein Y 1 (sprot)", "equivalent_identifiers": ["UniProtKB:O14598", "PR:O14598", "ENSEMBL:ENSP00000250823", "ENSEMBL:ENSP00000250823.4", "ENSEMBL:ENSP00000250825", "ENSEMBL:ENSP00000250825.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15415-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding motif protein, Y chromosome, family 1 member F/J isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15415-1", "PR:Q15415-1", "ENSEMBL:ENSP00000250831", "ENSEMBL:ENSP00000250831.5", "ENSEMBL:ENSP00000307155", "ENSEMBL:ENSP00000307155.7"], "information_content": 100.0}
{"id": "UniProtKB:Q92904-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deleted in azoospermia-like isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92904-2", "PR:Q92904-2", "ENSEMBL:ENSP00000250863", "ENSEMBL:ENSP00000250863.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9HBH9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAP kinase-interacting serine/threonine-protein kinase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBH9-1", "PR:Q9HBH9-1", "ENSEMBL:ENSP00000250896", "ENSEMBL:ENSP00000250896.3"], "information_content": 100.0}
{"id": "NCBIGene:83855", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLF16", "equivalent_identifiers": ["NCBIGene:83855", "ENSEMBL:ENSG00000129911", "HGNC:16857", "OMIM:606139", "UMLS:C1424598", "UniProtKB:Q9BXK1", "PR:Q9BXK1", "ENSEMBL:ENSP00000250916", "ENSEMBL:ENSP00000250916.3", "ENSEMBL:ENSP00000439973", "ENSEMBL:ENSP00000439973.1", "ENSEMBL:ENSP00000483701", "ENSEMBL:ENSP00000483701.1", "UMLS:C1144215", "MESH:C431279"], "information_content": 100.0}
{"id": "UniProtKB:Q96GS6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha/beta hydrolase domain-containing protein 17A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96GS6-2", "PR:Q96GS6-2", "ENSEMBL:ENSP00000250974", "ENSEMBL:ENSP00000250974.9"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSC2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Sal-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSC2-1", "PR:Q9NSC2-1", "ENSEMBL:ENSP00000251020", "ENSEMBL:ENSP00000251020.4", "ENSEMBL:ENSP00000407914", "ENSEMBL:ENSP00000407914.2", "ENSEMBL:ENSP00000509873", "ENSEMBL:ENSP00000509873.1"], "information_content": 100.0}
{"id": "MONDO:0019040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosomal disorder", "equivalent_identifiers": ["MONDO:0019040", "DOID:0080014", "orphanet:68335", "UMLS:C0008626", "MESH:D025063", "MEDDRA:10008810", "MEDDRA:10008814", "MEDDRA:10008815", "MEDDRA:10008824", "MEDDRA:10010270", "MEDDRA:10067477", "NCIT:C34470", "SNOMEDCT:409709004", "SNOMEDCT:74345006", "medgen:3441"], "information_content": 57.9}
{"id": "MONDO:0015267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Feingold syndrome", "equivalent_identifiers": ["MONDO:0015267", "DOID:0060464", "OMIM.PS:164280", "orphanet:1305", "UMLS:C0796068", "MESH:C537734", "MEDDRA:10086623", "MEDDRA:10086632", "MEDDRA:10086634", "NCIT:C74987", "medgen:163209"], "information_content": 92.8}
{"id": "UniProtKB:Q6PJT7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger CCCH domain-containing protein 14 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PJT7-1", "PR:Q6PJT7-1", "ENSEMBL:ENSP00000251038", "ENSEMBL:ENSP00000251038.5"], "information_content": 100.0}
{"id": "NCBIGene:3998", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LMAN1", "equivalent_identifiers": ["NCBIGene:3998", "ENSEMBL:ENSG00000074695", "HGNC:6631", "OMIM:601567", "UMLS:C1416874", "UniProtKB:P49257", "PR:P49257", "ENSEMBL:ENSP00000251047", "ENSEMBL:ENSP00000251047.4", "UMLS:C0248402", "MESH:C084004"], "information_content": 84.8}
{"id": "NCBIGene:23357", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANGEL1", "equivalent_identifiers": ["NCBIGene:23357", "ENSEMBL:ENSG00000013523", "HGNC:19961", "OMIM:619537", "UMLS:C1823659", "UniProtKB:Q9UNK9", "PR:Q9UNK9", "ENSEMBL:ENSP00000251089", "ENSEMBL:ENSP00000251089.3", "ENSEMBL:ENSP00000519383", "ENSEMBL:ENSP00000519383.1", "ENSEMBL:ENSP00000519384", "ENSEMBL:ENSP00000519384.1"], "information_content": 95.4}
{"id": "UniProtKB:Q14028-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic nucleotide-gated channel beta-1 isoform hRCNC2B (human)", "equivalent_identifiers": ["UniProtKB:Q14028-1", "PR:Q14028-1", "ENSEMBL:ENSP00000251102", "ENSEMBL:ENSP00000251102.8"], "information_content": 100.0}
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{"id": "MONDO:0054785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 6", "equivalent_identifiers": ["MONDO:0054785", "DOID:0070332", "OMIM:617954", "orphanet:569290", "UMLS:C4693741", "SNOMEDCT:1279891002", "medgen:1643082"], "information_content": 100.0}
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{"id": "MONDO:0015526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cold-induced sweating syndrome", "equivalent_identifiers": ["MONDO:0015526", "DOID:0060294", "OMIM.PS:272430", "orphanet:157820", "UMLS:C1832409", "SNOMEDCT:702363009", "medgen:321950", "icd11.foundation:1884908195"], "information_content": 90.9}
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{"id": "UniProtKB:Q96N67-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dedicator of cytokinesis protein 7 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q96N67-6", "PR:Q96N67-6", "ENSEMBL:ENSP00000251157", "ENSEMBL:ENSP00000251157.6"], "information_content": 100.0}
{"id": "NCBIGene:80714", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PBX4", "equivalent_identifiers": ["NCBIGene:80714", "ENSEMBL:ENSG00000105717", "HGNC:13403", "OMIM:608127", "UMLS:C1421974", "UniProtKB:Q9BYU1", "PR:Q9BYU1", "ENSEMBL:ENSP00000251203", "ENSEMBL:ENSP00000251203.5", "UMLS:C1450217", "MESH:C486618"], "information_content": 100.0}
{"id": "UniProtKB:Q8IX18-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable ATP-dependent RNA helicase DHX40 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IX18-1", "PR:Q8IX18-1", "ENSEMBL:ENSP00000251241", "ENSEMBL:ENSP00000251241.4"], "information_content": 100.0}
{"id": "MONDO:0006187", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenal villous adenoma", "equivalent_identifiers": ["MONDO:0006187", "DOID:0050927", "EFO:1000225", "UMLS:C1333322", "NCIT:C5338", "SNOMEDCT:15641141000119100", "medgen:232438"], "information_content": 100.0}
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{"id": "MONDO:0013731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MEGF10-related myopathy", "equivalent_identifiers": ["MONDO:0013731", "DOID:0111333", "OMIM:614399", "orphanet:439212", "UMLS:C3280679", "SNOMEDCT:1236844002", "medgen:482309"], "information_content": 100.0}
{"id": "MONDO:0020602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Simpson-Golabi-Behmel syndrome type 1", "equivalent_identifiers": ["MONDO:0020602", "DOID:0060248", "OMIM:312870", "UMLS:C0796154", "MEDDRA:10085696", "MEDDRA:10085698", "NCIT:C118787", "medgen:162917"], "information_content": 100.0}
{"id": "NCBIGene:610", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HCN2", "equivalent_identifiers": ["NCBIGene:610", "ENSEMBL:ENSG00000099822", "HGNC:4846", "OMIM:602781", "UMLS:C1415499", "UniProtKB:Q9UL51", "PR:Q9UL51", "ENSEMBL:ENSP00000251287", "ENSEMBL:ENSP00000251287.1", "UMLS:C3711692", "MESH:C578710"], "information_content": 100.0}
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{"id": "UniProtKB:Q9BQ83-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "structure-specific endonuclease subunit SLX1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQ83-1", "PR:Q9BQ83-1", "ENSEMBL:ENSP00000251303", "ENSEMBL:ENSP00000251303.7", "ENSEMBL:ENSP00000328940", "ENSEMBL:ENSP00000328940.5"], "information_content": 100.0}
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{"id": "NCBIGene:2780", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNAT2", "equivalent_identifiers": ["NCBIGene:2780", "ENSEMBL:ENSG00000134183", "HGNC:4394", "OMIM:139340", "UMLS:C1415149", "UniProtKB:P19087", "PR:P19087", "ENSEMBL:ENSP00000251337", "ENSEMBL:ENSP00000251337.3", "ENSEMBL:ENSP00000505083", "ENSEMBL:ENSP00000505083.1", "UniProtKB:Q5T697"], "information_content": 92.8}
{"id": "MONDO:0005555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cycloplegia", "equivalent_identifiers": ["MONDO:0005555", "DOID:10033", "EFO:0005758", "UMLS:C0235238", "MEDDRA:10000391", "MEDDRA:10011719", "MEDDRA:10033986", "SNOMEDCT:68158006", "medgen:536368", "ICD10:H52.52", "ICD9:367.51"], "information_content": 100.0}
{"id": "MONDO:0005751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidemic pleurodynia", "equivalent_identifiers": ["MONDO:0005751", "DOID:10882", "EFO:0007259", "UMLS:C0032238", "MESH:D011000", "MEDDRA:10006035", "MEDDRA:10014978", "SNOMEDCT:83264000", "medgen:19355", "ICD10:B33.0", "ICD9:074.1"], "information_content": 100.0}
{"id": "NCBIGene:79603", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CERS4", "equivalent_identifiers": ["NCBIGene:79603", "ENSEMBL:ENSG00000090661", "HGNC:23747", "OMIM:615334", "UMLS:C3469890", "UniProtKB:Q53HF9", "UMLS:C4041754", "MESH:C000599706", "UniProtKB:Q9HA82", "PR:Q9HA82", "ENSEMBL:ENSP00000251363", "ENSEMBL:ENSP00000251363.5", "ENSEMBL:ENSP00000453509", "ENSEMBL:ENSP00000453509.1"], "information_content": 95.4}
{"id": "NCBIGene:27175", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBG2", "equivalent_identifiers": ["NCBIGene:27175", "ENSEMBL:ENSG00000037042", "HGNC:12419", "OMIM:605785", "UMLS:C1421237", "UniProtKB:A0A1B4Z394", "UniProtKB:Q9NRH3", "PR:Q9NRH3", "ENSEMBL:ENSP00000251412", "ENSEMBL:ENSP00000251412.6", "UMLS:C1517436", "MESH:C000619121"], "information_content": 100.0}
{"id": "NCBIGene:7283", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBG1", "equivalent_identifiers": ["NCBIGene:7283", "ENSEMBL:ENSG00000131462", "HGNC:12417", "OMIM:191135", "UMLS:C1421235", "UniProtKB:P23258", "PR:P23258", "ENSEMBL:ENSP00000251413", "ENSEMBL:ENSP00000251413.2", "UMLS:C1517435", "MESH:C582625"], "information_content": 88.2}
{"id": "MONDO:0000904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex cortical dysplasia with other brain malformations", "equivalent_identifiers": ["MONDO:0000904", "DOID:0090131", "OMIM.PS:614039"], "information_content": 83.1}
{"id": "NCBIGene:22983", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAST1", "equivalent_identifiers": ["NCBIGene:22983", "ENSEMBL:ENSG00000105613", "HGNC:19034", "OMIM:612256", "UMLS:C1537669", "UniProtKB:Q9Y2H9", "PR:Q9Y2H9", "ENSEMBL:ENSP00000251472", "ENSEMBL:ENSP00000251472.3", "UMLS:C3542416", "MESH:C000718371"], "information_content": 88.2}
{"id": "NCBIGene:64151", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCAPG", "equivalent_identifiers": ["NCBIGene:64151", "ENSEMBL:ENSG00000109805", "HGNC:24304", "OMIM:606280", "UMLS:C1826382", "UniProtKB:Q9BPX3", "PR:Q9BPX3", "ENSEMBL:ENSP00000251496", "ENSEMBL:ENSP00000251496.2", "UMLS:C2713654", "MESH:C533611"], "information_content": 84.2}
{"id": "NCBIGene:239", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALOX12", "equivalent_identifiers": ["NCBIGene:239", "ENSEMBL:ENSG00000108839", "HGNC:429", "OMIM:152391", "UMLS:C1412356", "UniProtKB:P18054", "PR:P18054", "ENSEMBL:ENSP00000251535", "ENSEMBL:ENSP00000251535.6", "UMLS:C1310993", "UMLS:C3538937", "MESH:C476558"], "information_content": 92.8}
{"id": "NCBIGene:79799", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UGT2A3", "equivalent_identifiers": ["NCBIGene:79799", "ENSEMBL:ENSG00000135220", "HGNC:28528", "OMIM:616382", "UMLS:C1823594", "UniProtKB:B4DDY2", "UniProtKB:Q6UWM9", "PR:Q6UWM9", "ENSEMBL:ENSP00000251566", "ENSEMBL:ENSP00000251566.4", "ENSEMBL:ENSP00000479283", "ENSEMBL:ENSP00000479283.1"], "information_content": 95.4}
{"id": "UniProtKB:O95450-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "a disintegrin and metalloproteinase with thrombospondin motifs 2 isoform LpNPI (human)", "equivalent_identifiers": ["UniProtKB:O95450-1", "PR:O95450-1", "ENSEMBL:ENSP00000251582", "ENSEMBL:ENSP00000251582.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6Q4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic iron-sulfur assembly component 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6Q4-1", "PR:Q9H6Q4-1", "ENSEMBL:ENSP00000251588", "ENSEMBL:ENSP00000251588.2"], "information_content": 100.0}
{"id": "MONDO:0013323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranioectodermal dysplasia 2", "equivalent_identifiers": ["MONDO:0013323", "DOID:0080804", "OMIM:613610", "UMLS:C3150874", "medgen:462224"], "information_content": 100.0}
{"id": "UniProtKB:P69905", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HBA_HUMAN Hemoglobin subunit alpha (sprot)", "equivalent_identifiers": ["UniProtKB:P69905", "PR:P69905", "ENSEMBL:ENSP00000251595", "ENSEMBL:ENSP00000251595.6", "ENSEMBL:ENSP00000322421", "ENSEMBL:ENSP00000322421.5", "UMLS:C0544482"], "information_content": 87.2}
{"id": "UniProtKB:Q96Q11-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q11-1", "PR:Q96Q11-1", "ENSEMBL:ENSP00000251607", "ENSEMBL:ENSP00000251607.6", "ENSEMBL:ENSP00000415100", "ENSEMBL:ENSP00000415100.1", "ENSEMBL:ENSP00000513700", "ENSEMBL:ENSP00000513700.1", "ENSEMBL:ENSP00000513701", "ENSEMBL:ENSP00000513701.1", "ENSEMBL:ENSP00000513705", "ENSEMBL:ENSP00000513705.1"], "information_content": 100.0}
{"id": "MONDO:0019170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyarteritis nodosa", "equivalent_identifiers": ["MONDO:0019170", "DOID:9810", "orphanet:767", "EFO:0009012", "UMLS:C0031036", "MESH:D010488", "MEDDRA:10009235", "MEDDRA:10023500", "MEDDRA:10033569", "MEDDRA:10034462", "MEDDRA:10036024", "MEDDRA:10036027", "NCIT:C26847", "SNOMEDCT:155441006", "medgen:14681", "icd11.foundation:1419332129", "ICD10:M30", "ICD10:M30.0", "ICD9:446.0"], "information_content": 88.2}
{"id": "NCBIGene:79132", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DHX58", "equivalent_identifiers": ["NCBIGene:79132", "ENSEMBL:ENSG00000108771", "HGNC:29517", "OMIM:608588", "UMLS:C1837808", "UniProtKB:A0AA51U9C6", "UniProtKB:Q96C10", "PR:Q96C10", "ENSEMBL:ENSP00000251642", "ENSEMBL:ENSP00000251642.3", "UMLS:C1957844", "MESH:C520569"], "information_content": 92.8}
{"id": "NCBIGene:3859", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT12", "equivalent_identifiers": ["NCBIGene:3859", "ENSEMBL:ENSG00000187242", "HGNC:6414", "OMIM:601687", "UMLS:C1416715", "UniProtKB:Q99456", "PR:Q99456", "ENSEMBL:ENSP00000251643", "ENSEMBL:ENSP00000251643.4", "ENSEMBL:ENSP00000459559", "ENSEMBL:ENSP00000459559.2", "UMLS:C1571372", "MESH:C507494"], "information_content": 100.0}
{"id": "MONDO:0001178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudopterygium", "equivalent_identifiers": ["MONDO:0001178", "DOID:11028", "UMLS:C0155161", "MEDDRA:10037147", "SNOMEDCT:66139007", "medgen:509821", "ICD9:372.52"], "information_content": 100.0}
{"id": "MONDO:0001308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal deposit", "equivalent_identifiers": ["MONDO:0001308", "DOID:11547", "UMLS:C0162281", "MEDDRA:10010999", "MEDDRA:10011000", "MEDDRA:10012368", "SNOMEDCT:74460005", "medgen:511537", "icd11.foundation:1760427912", "ICD10:H18.00", "ICD9:371.10"], "information_content": 90.9}
{"id": "MONDO:0001054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "double pterygium", "equivalent_identifiers": ["MONDO:0001054", "DOID:10525", "UMLS:C0155157", "MEDDRA:10013612", "SNOMEDCT:41564009", "medgen:509817", "ICD9:372.44"], "information_content": 100.0}
{"id": "MONDO:0009015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal dystrophy-perceptive deafness syndrome", "equivalent_identifiers": ["MONDO:0009015", "DOID:0111620", "OMIM:217400", "orphanet:1490", "UMLS:C1857572", "MESH:C535473", "SNOMEDCT:720749004", "medgen:387858"], "information_content": 100.0}
{"id": "NCBIGene:3881", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT31", "equivalent_identifiers": ["NCBIGene:3881", "ENSEMBL:ENSG00000094796", "HGNC:6448", "OMIM:601077", "UMLS:C1825747", "UniProtKB:Q15323", "PR:Q15323", "ENSEMBL:ENSP00000251645", "ENSEMBL:ENSP00000251645.2", "ENSEMBL:ENSP00000460739", "ENSEMBL:ENSP00000460739.1", "ENSEMBL:ENSP00000517784", "ENSEMBL:ENSP00000517784.1", "UMLS:C1683941", "MESH:C507592"], "information_content": 90.9}
{"id": "MONDO:0016075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "filariasis", "equivalent_identifiers": ["MONDO:0016075", "DOID:1080", "orphanet:2034", "UMLS:C0016085", "MESH:D005368", "MEDDRA:10016674", "MEDDRA:10045874", "MEDDRA:10076405", "NCIT:C34611", "SNOMEDCT:105706003", "medgen:4706", "icd11.foundation:1975325075", "ICD10:B74", "ICD9:125.9"], "information_content": 84.2}
{"id": "NCBIGene:3884", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT33B", "equivalent_identifiers": ["NCBIGene:3884", "ENSEMBL:ENSG00000131738", "HGNC:6451", "OMIM:602762", "UMLS:C1825749", "UniProtKB:Q14525", "PR:Q14525", "ENSEMBL:ENSP00000251646", "ENSEMBL:ENSP00000251646.3", "ENSEMBL:ENSP00000459509", "ENSEMBL:ENSP00000459509.1", "ENSEMBL:ENSP00000517783", "ENSEMBL:ENSP00000517783.1", "UMLS:C1674653", "MESH:C507595"], "information_content": 100.0}
{"id": "MONDO:0007564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pilomatrixoma", "equivalent_identifiers": ["MONDO:0007564", "DOID:5374", "OMIM:132600", "orphanet:91414", "EFO:0009082", "UMLS:C0206711", "MESH:D018296", "MEDDRA:10035040", "NCIT:C7368", "SNOMEDCT:274901004", "SNOMEDCT:44155009", "medgen:61666", "icd11.foundation:378820295", "HP:0030434"], "information_content": 89.4}
{"id": "NCBIGene:57221", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARFGEF3", "equivalent_identifiers": ["NCBIGene:57221", "ENSEMBL:ENSG00000112379", "HGNC:21213", "OMIM:617411", "UMLS:C1427420", "UniProtKB:Q5TH69", "PR:Q5TH69", "ENSEMBL:ENSP00000251691", "ENSEMBL:ENSP00000251691.4", "UMLS:C4042567", "MESH:C000595370"], "information_content": 100.0}
{"id": "UniProtKB:Q9BY07-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "electrogenic sodium bicarbonate cotransporter 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY07-1", "PR:Q9BY07-1", "ENSEMBL:ENSP00000251768", "ENSEMBL:ENSP00000251768.7", "ENSEMBL:ENSP00000366861", "ENSEMBL:ENSP00000366861.4"], "information_content": 100.0}
{"id": "UniProtKB:O95219-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95219-1", "PR:O95219-1", "ENSEMBL:ENSP00000251775", "ENSEMBL:ENSP00000251775.4"], "information_content": 100.0}
{"id": "MONDO:0024455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Robinow syndrome 1", "equivalent_identifiers": ["MONDO:0024455", "DOID:0060766", "OMIM:180700", "UMLS:C4551475", "medgen:1641736"], "information_content": 100.0}
{"id": "UniProtKB:Q7LG56-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribonucleoside-diphosphate reductase subunit M2 B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7LG56-1", "PR:Q7LG56-1", "ENSEMBL:ENSP00000251810", "ENSEMBL:ENSP00000251810.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXT4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tudor domain-containing protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXT4-3", "PR:Q9BXT4-3", "ENSEMBL:ENSP00000251864", "ENSEMBL:ENSP00000251864.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVC6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 17 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVC6-1", "PR:Q9NVC6-1", "ENSEMBL:ENSP00000251871", "ENSEMBL:ENSP00000251871.3"], "information_content": 100.0}
{"id": "MONDO:0002398", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucinous adenofibroma", "equivalent_identifiers": ["MONDO:0002398", "DOID:2700", "UMLS:C0334499", "NCIT:C8978", "SNOMEDCT:10705005", "medgen:83158"], "information_content": 89.4}
{"id": "MONDO:0016215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic quadriplegic cerebral palsy", "equivalent_identifiers": ["MONDO:0016215", "DOID:10970", "OMIM.PS:612900", "orphanet:210141", "UMLS:C0154697", "UMLS:C0426970", "MEDDRA:10021744", "MEDDRA:10037720", "MEDDRA:10074398", "NCIT:C116904", "SNOMEDCT:192965001", "SNOMEDCT:275468009", "medgen:98433", "icd11.foundation:1155284708", "ICD9:343.2", "HP:0002510"], "information_content": 90.9}
{"id": "UniProtKB:Q9UQR0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sex comb on midleg-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQR0-1", "PR:Q9UQR0-1", "ENSEMBL:ENSP00000251900", "ENSEMBL:ENSP00000251900.4"], "information_content": 100.0}
{"id": "UniProtKB:Q99816-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor susceptibility gene 101 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99816-1", "PR:Q99816-1", "ENSEMBL:ENSP00000251968", "ENSEMBL:ENSP00000251968.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6ICG6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein KIAA0930 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6ICG6-2", "PR:Q6ICG6-2", "ENSEMBL:ENSP00000251993", "ENSEMBL:ENSP00000251993.7"], "information_content": 100.0}
{"id": "MONDO:0008700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acheiropody", "equivalent_identifiers": ["MONDO:0008700", "DOID:0050603", "OMIM:200500", "orphanet:931", "UMLS:C0265559", "MESH:C536014", "MEDDRA:10081375", "SNOMEDCT:177504007", "medgen:120547"], "information_content": 100.0}
{"id": "NCBIGene:25943", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAAF9", "equivalent_identifiers": ["NCBIGene:25943", "ENSEMBL:ENSG00000088854", "HGNC:17721", "OMIM:614146", "UMLS:C1425047", "UniProtKB:Q0IIP3", "UniProtKB:Q5TEA3", "PR:Q5TEA3", "ENSEMBL:ENSP00000252032", "ENSEMBL:ENSP00000252032.9"], "information_content": 95.4}
{"id": "MONDO:0011488", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 3, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0011488", "DOID:0070286", "OMIM:604804", "UMLS:C1858108", "MESH:C565746", "medgen:347619"], "information_content": 100.0}
{"id": "MONDO:0010723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 2", "equivalent_identifiers": ["MONDO:0010723", "DOID:0110415", "OMIM:312600", "UMLS:C2681923", "MESH:C567523", "medgen:394544"], "information_content": 100.0}
{"id": "MONDO:0014043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephalic primordial dwarfism due to ZNF335 deficiency", "equivalent_identifiers": ["MONDO:0014043", "DOID:0070294", "OMIM:615095", "orphanet:329228", "UMLS:C3554499", "UMLS:C4510378", "SNOMEDCT:724141003", "medgen:767413"], "information_content": 100.0}
{"id": "UniProtKB:O75344-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75344-1", "PR:O75344-1", "ENSEMBL:ENSP00000252037", "ENSEMBL:ENSP00000252037.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWT3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cullin-9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWT3-1", "PR:Q8IWT3-1", "ENSEMBL:ENSP00000252050", "ENSEMBL:ENSP00000252050.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0K3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin-related protein 3C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0K3-1", "PR:Q9C0K3-1", "ENSEMBL:ENSP00000252071", "ENSEMBL:ENSP00000252071.4", "ENSEMBL:ENSP00000507618", "ENSEMBL:ENSP00000507618.1"], "information_content": 100.0}
{"id": "UniProtKB:O60330-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-A12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60330-1", "PR:O60330-1", "ENSEMBL:ENSP00000252085", "ENSEMBL:ENSP00000252085.3"], "information_content": 100.0}
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{"id": "UniProtKB:O43678-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43678-1", "PR:O43678-1", "ENSEMBL:ENSP00000252102", "ENSEMBL:ENSP00000252102.5"], "information_content": 100.0}
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{"id": "MONDO:0005278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "serous adenocarcinoma", "equivalent_identifiers": ["MONDO:0005278", "DOID:3114", "EFO:0003825", "NCIT:C40101"], "information_content": 70.9}
{"id": "UniProtKB:Q29980-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MHC class I polypeptide-related sequence B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q29980-1", "PR:Q29980-1", "ENSEMBL:ENSP00000252229", "ENSEMBL:ENSP00000252229.6", "ENSEMBL:ENSP00000407561", "ENSEMBL:ENSP00000407561.2"], "information_content": 100.0}
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{"id": "MONDO:0004230", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenomatoid tumor", "equivalent_identifiers": ["MONDO:0004230", "DOID:746", "UMLS:C0206675", "MESH:D018254", "MEDDRA:10004291", "MEDDRA:10027413", "MEDDRA:10061691", "NCIT:C3762", "SNOMEDCT:2348006", "SNOMEDCT:41183007", "medgen:60207", "ICD10:D19.9"], "information_content": 85.5}
{"id": "MONDO:0001100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gigantomastia", "equivalent_identifiers": ["MONDO:0001100", "DOID:10688", "UMLS:C0020565", "UMLS:C0392533", "UMLS:C2225524", "MEDDRA:10006242", "MEDDRA:10020881", "MEDDRA:10020885", "MEDDRA:10026733", "MEDDRA:10064841", "NCIT:C3125", "SNOMEDCT:372281005", "SNOMEDCT:372283008", "SNOMEDCT:372285001", "medgen:43789", "icd11.foundation:2078176266", "ICD10:N62", "ICD9:611.1", "HP:0010313"], "information_content": 92.8}
{"id": "NCBIGene:3848", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT1", "equivalent_identifiers": ["NCBIGene:3848", "ENSEMBL:ENSG00000167768", "HGNC:6412", "OMIM:139350", "UMLS:C1416713", "UniProtKB:P04264", "PR:P04264", "ENSEMBL:ENSP00000252244", "ENSEMBL:ENSP00000252244.3", "UMLS:C1504921", "MESH:C491616"], "information_content": 89.4}
{"id": "MONDO:0020603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked chondrodysplasia punctata 2", "equivalent_identifiers": ["MONDO:0020603", "DOID:0080352", "OMIM:302960", "orphanet:35173", "UMLS:C0282102", "MEDDRA:10084050", "SNOMEDCT:398719004", "SNOMEDCT:398958000", "medgen:79381"], "information_content": 100.0}
{"id": "NCBIGene:9119", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT75", "equivalent_identifiers": ["NCBIGene:9119", "ENSEMBL:ENSG00000170454", "HGNC:24431", "OMIM:609025", "UMLS:C1825763", "UniProtKB:O95678", "PR:O95678", "ENSEMBL:ENSP00000252245", "ENSEMBL:ENSP00000252245.5", "UMLS:C1611365", "MESH:C502884"], "information_content": 95.4}
{"id": "NCBIGene:286887", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT6C", "equivalent_identifiers": ["NCBIGene:286887", "ENSEMBL:ENSG00000170465", "HGNC:20406", "OMIM:612315", "UMLS:C1426919", "UniProtKB:P48668", "PR:P48668", "ENSEMBL:ENSP00000252250", "ENSEMBL:ENSP00000252250.6", "UMLS:C1676738", "MESH:C507571"], "information_content": 95.4}
{"id": "NCBIGene:3854", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT6B", "equivalent_identifiers": ["NCBIGene:3854", "ENSEMBL:ENSG00000185479", "HGNC:6444", "OMIM:148042", "UMLS:C1416744", "UniProtKB:P04259", "PR:P04259", "ENSEMBL:ENSP00000252252", "ENSEMBL:ENSP00000252252.3", "UMLS:C1675329", "MESH:C507570"], "information_content": 95.4}
{"id": "NCBIGene:5977", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPF2", "equivalent_identifiers": ["NCBIGene:5977", "ENSEMBL:ENSG00000133884", "HGNC:9964", "OMIM:601671", "UMLS:C1419344", "UniProtKB:J3KMZ8", "ENSEMBL:ENSP00000252268", "ENSEMBL:ENSP00000252268.4", "UMLS:C1431418", "MESH:C113581", "UniProtKB:Q92785", "PR:Q92785", "UMLS:C4761480"]}
{"id": "UniProtKB:P22460-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium voltage-gated channel subfamily A member 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P22460-1", "PR:P22460-1", "ENSEMBL:ENSP00000252321", "ENSEMBL:ENSP00000252321.3"], "information_content": 95.4}
{"id": "MONDO:0005009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congestive heart failure", "equivalent_identifiers": ["MONDO:0005009", "DOID:6000", "EFO:0000373", "NCIT:C3080", "medgen:9169", "icd11.foundation:2136808878", "ICD10:I50", "ICD10:I50.9", "ICD9:428", "ICD9:428.0"], "information_content": 78.5}
{"id": "MONDO:0019490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive familial heart block", "equivalent_identifiers": ["MONDO:0019490", "DOID:0111073", "OMIM.PS:113900", "orphanet:871", "SNOMEDCT:698249005"], "information_content": 90.9}
{"id": "UniProtKB:P51911-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calponin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P51911-1", "PR:P51911-1", "ENSEMBL:ENSP00000252456", "ENSEMBL:ENSP00000252456.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92692-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nectin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92692-1", "PR:Q92692-1", "ENSEMBL:ENSP00000252483", "ENSEMBL:ENSP00000252483.4"], "information_content": 95.4}
{"id": "MONDO:0700251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 7", "equivalent_identifiers": ["MONDO:0700251", "DOID:0080400", "UMLS:C1833538", "MESH:C563464", "medgen:371589"], "information_content": 100.0}
{"id": "NCBIGene:348", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOE", "equivalent_identifiers": ["NCBIGene:348", "ENSEMBL:ENSG00000130203", "HGNC:613", "OMIM:107741", "UMLS:C1412481", "UniProtKB:A0A0S2Z3D5", "UniProtKB:P02649", "PR:P02649", "ENSEMBL:ENSP00000252486", "ENSEMBL:ENSP00000252486.3", "UMLS:C4308468", "UMLS:C4721561", "MESH:C000612345"], "information_content": 81.7}
{"id": "MONDO:0000437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ataxia", "equivalent_identifiers": ["MONDO:0000437", "DOID:0050753", "orphanet:102002", "UMLS:C0007758", "MESH:D002524", "MEDDRA:10003592", "MEDDRA:10008025", "NCIT:C82341", "SNOMEDCT:85102008", "medgen:849", "HP:0001251"], "information_content": 63.7}
{"id": "MONDO:0010895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ABCD syndrome", "equivalent_identifiers": ["MONDO:0010895", "DOID:0050600", "OMIM:600501", "UMLS:C1838099", "MESH:C535334", "medgen:333014"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6M5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable inactive allantoicase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6M5-1", "PR:Q8N6M5-1", "ENSEMBL:ENSP00000252505", "ENSEMBL:ENSP00000252505.3"], "information_content": 100.0}
{"id": "NCBIGene:10912", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GADD45G", "equivalent_identifiers": ["NCBIGene:10912", "ENSEMBL:ENSG00000130222", "HGNC:4097", "OMIM:604949", "UMLS:C1414929", "UniProtKB:O95257", "PR:O95257", "ENSEMBL:ENSP00000252506", "ENSEMBL:ENSP00000252506.6", "UMLS:C1312913", "MESH:C485654"], "information_content": 95.4}
{"id": "MONDO:0001257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Microaneurysm", "equivalent_identifiers": ["MONDO:0001257", "DOID:11295", "UMLS:C0154834", "UMLS:C0333101", "MESH:D000071071", "MEDDRA:10027526", "MEDDRA:10038879", "MEDDRA:10038880", "MEDDRA:10038882", "NCIT:C35842", "SNOMEDCT:34037000", "SNOMEDCT:87104008", "medgen:472899", "ICD9:362.14", "HP:0032416"], "information_content": 92.8}
{"id": "NCBIGene:1463", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCAN", "equivalent_identifiers": ["NCBIGene:1463", "ENSEMBL:ENSG00000130287", "HGNC:2465", "OMIM:600826", "UMLS:C1413764", "UniProtKB:O14594", "PR:O14594", "ENSEMBL:ENSP00000252575", "ENSEMBL:ENSP00000252575.4", "UMLS:C0172538", "MESH:C076817"], "information_content": 83.6}
{"id": "NCBIGene:83483", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLVAP", "equivalent_identifiers": ["NCBIGene:83483", "ENSEMBL:ENSG00000130300", "HGNC:13635", "OMIM:607647", "UMLS:C1422123", "UniProtKB:Q9BX97", "PR:Q9BX97", "ENSEMBL:ENSP00000252590", "ENSEMBL:ENSP00000252590.3", "UMLS:C1435387", "UMLS:C3537282", "MESH:C486771"], "information_content": 95.4}
{"id": "UniProtKB:Q10589-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bone marrow stromal antigen 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q10589-1", "PR:Q10589-1", "ENSEMBL:ENSP00000252593", "ENSEMBL:ENSP00000252593.6"], "information_content": 100.0}
{"id": "UniProtKB:Q6PCB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "long-chain fatty acid transport protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PCB7-1", "PR:Q6PCB7-1", "ENSEMBL:ENSP00000252595", "ENSEMBL:ENSP00000252595.6"], "information_content": 100.0}
{"id": "MONDO:0031213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "restrictive dermopathy", "equivalent_identifiers": ["MONDO:0031213", "DOID:0060762", "OMIM.PS:275210", "orphanet:1662", "UMLS:C0406585", "medgen:98356"], "information_content": 92.8}
{"id": "UniProtKB:Q8N6Y0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "harmonin-binding protein USHBP1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6Y0-1", "PR:Q8N6Y0-1", "ENSEMBL:ENSP00000252597", "ENSEMBL:ENSP00000252597.2"], "information_content": 100.0}
{"id": "NCBIGene:79709", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COLGALT1", "equivalent_identifiers": ["NCBIGene:79709", "ENSEMBL:ENSG00000130309", "HGNC:26182", "OMIM:617531", "UMLS:C1539578", "UniProtKB:Q8NBJ5", "PR:Q8NBJ5", "ENSEMBL:ENSP00000252599", "ENSEMBL:ENSP00000252599.3", "UMLS:C2713874", "MESH:C535153"], "information_content": 92.8}
{"id": "MONDO:0020496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial porencephaly", "equivalent_identifiers": ["MONDO:0020496", "DOID:0112313", "OMIM.PS:175780", "orphanet:99810", "UMLS:C1867983", "SNOMEDCT:1162864000", "medgen:401353", "icd11.foundation:1833583032"], "information_content": 90.9}
{"id": "NCBIGene:4298", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MLLT1", "equivalent_identifiers": ["NCBIGene:4298", "ENSEMBL:ENSG00000130382", "HGNC:7134", "OMIM:159556", "UMLS:C1334513", "UniProtKB:Q03111", "PR:Q03111", "ENSEMBL:ENSP00000252674", "ENSEMBL:ENSP00000252674.6", "UMLS:C1307180", "UMLS:C1333335", "MESH:C081448"], "information_content": 90.9}
{"id": "MONDO:0850231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythema nodosum", "equivalent_identifiers": ["MONDO:0850231", "DOID:0080750", "UMLS:C0014743", "MESH:D004893", "MEDDRA:10015226", "SNOMEDCT:32861005", "medgen:41858", "icd11.foundation:1628519266", "HP:0012219"], "information_content": 95.4}
{"id": "MONDO:0020076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myeloproliferative neoplasm", "equivalent_identifiers": ["MONDO:0020076", "DOID:2226", "orphanet:98274", "EFO:0002428", "UMLS:C0027022", "UMLS:C1292778", "MESH:D009196", "MEDDRA:10013238", "MEDDRA:10028576", "MEDDRA:10028577", "MEDDRA:10077465", "NCIT:C4345", "SNOMEDCT:109993000", "SNOMEDCT:414794006", "SNOMEDCT:425333006", "medgen:220955", "ICD10:D47.1", "HP:0005547"], "information_content": 66.7}
{"id": "NCBIGene:9210", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BMP15", "equivalent_identifiers": ["NCBIGene:9210", "ENSEMBL:ENSG00000130385", "HGNC:1068", "OMIM:300247", "UMLS:C1332423", "UniProtKB:O95972", "PR:O95972", "ENSEMBL:ENSP00000252677", "ENSEMBL:ENSP00000252677.3", "UMLS:C1664710", "MESH:C525901"], "information_content": 100.0}
{"id": "UniProtKB:O43707-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-actinin-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43707-1", "PR:O43707-1", "ENSEMBL:ENSP00000252699", "ENSEMBL:ENSP00000252699.2", "ENSEMBL:ENSP00000489220", "ENSEMBL:ENSP00000489220.1"], "information_content": 100.0}
{"id": "UniProtKB:O95299-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95299-1", "PR:O95299-1", "ENSEMBL:ENSP00000252711", "ENSEMBL:ENSP00000252711.2", "ENSEMBL:ENSP00000503956", "ENSEMBL:ENSP00000503956.1", "ENSEMBL:ENSP00000504765", "ENSEMBL:ENSP00000504765.1"], "information_content": 100.0}
{"id": "NCBIGene:2056", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPO", "equivalent_identifiers": ["NCBIGene:2056", "ENSEMBL:ENSG00000130427", "HGNC:3415", "OMIM:133170", "UMLS:C1366564", "UniProtKB:G9JKG7", "UniProtKB:P01588", "PR:P01588", "ENSEMBL:ENSP00000252723", "ENSEMBL:ENSP00000252723.2", "UMLS:C2976467", "MESH:C554270"], "information_content": 65.7}
{"id": "MONDO:0001366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "splenic sequestration", "equivalent_identifiers": ["MONDO:0001366", "DOID:11786", "UMLS:C1260402", "MEDDRA:10063715", "medgen:1843463", "ICD9:289.52"], "information_content": 100.0}
{"id": "MONDO:0002901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blood group incompatibility", "equivalent_identifiers": ["MONDO:0002901", "DOID:4176", "UMLS:C0005806", "MESH:D001787", "MEDDRA:10078985", "medgen:609"], "information_content": 95.4}
{"id": "NCBIGene:57688", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZSWIM6", "equivalent_identifiers": ["NCBIGene:57688", "ENSEMBL:ENSG00000130449", "HGNC:29316", "OMIM:615951", "UMLS:C1428833", "UniProtKB:Q9HCJ5", "PR:Q9HCJ5", "ENSEMBL:ENSP00000252744", "ENSEMBL:ENSP00000252744.5", "UMLS:C3884294", "MESH:C000592373"], "information_content": 90.9}
{"id": "UniProtKB:Q96H86-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 764 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96H86-1", "PR:Q96H86-1", "ENSEMBL:ENSP00000252797", "ENSEMBL:ENSP00000252797.2"], "information_content": 100.0}
{"id": "UniProtKB:Q92626-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxidasin homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92626-1", "PR:Q92626-1", "ENSEMBL:ENSP00000252804", "ENSEMBL:ENSP00000252804.4"], "information_content": 100.0}
{"id": "NCBIGene:9518", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GDF15", "equivalent_identifiers": ["NCBIGene:9518", "ENSEMBL:ENSG00000130513", "HGNC:30142", "OMIM:605312", "UMLS:C1335222", "UniProtKB:Q99988", "PR:Q99988", "ENSEMBL:ENSP00000252809", "ENSEMBL:ENSP00000252809.3", "ENSEMBL:ENSP00000469819", "ENSEMBL:ENSP00000469819.2", "ENSEMBL:ENSP00000470531", "ENSEMBL:ENSP00000470531.3", "UMLS:C1431343", "MESH:C526140"], "information_content": 95.4}
{"id": "MONDO:0000385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign digestive system neoplasm", "equivalent_identifiers": ["MONDO:0000385", "DOID:0050624", "UMLS:C0497538", "MEDDRA:10004268", "MEDDRA:10017934", "MEDDRA:10017987", "MEDDRA:10018239", "MEDDRA:10060996", "NCIT:C4787", "SNOMEDCT:92118007", "medgen:141680", "HP:0006719"], "information_content": 64.6}
{"id": "NCBIGene:3727", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JUND", "equivalent_identifiers": ["NCBIGene:3727", "ENSEMBL:ENSG00000130522", "HGNC:6206", "OMIM:165162", "UMLS:C0812312", "UniProtKB:P17535", "PR:P17535", "ENSEMBL:ENSP00000252818", "ENSEMBL:ENSP00000252818.3", "UMLS:C1442794", "MESH:C559371"], "information_content": 95.4}
{"id": "NCBIGene:3270", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HRC", "equivalent_identifiers": ["NCBIGene:3270", "ENSEMBL:ENSG00000130528", "HGNC:5178", "OMIM:142705", "UMLS:C1415718", "UniProtKB:P23327", "PR:P23327", "ENSEMBL:ENSP00000252825", "ENSEMBL:ENSP00000252825.3", "UMLS:C1448647", "MESH:C068969"], "information_content": 89.4}
{"id": "MONDO:0011017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Naxos disease", "equivalent_identifiers": ["MONDO:0011017", "DOID:0080551", "OMIM:601214", "orphanet:34217", "UMLS:C1832600", "MESH:C538346", "SNOMEDCT:715535009", "medgen:321991", "icd11.foundation:633516876"], "information_content": 100.0}
{"id": "UniProtKB:Q8TD43-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transient receptor potential cation channel subfamily M member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TD43-1", "PR:Q8TD43-1", "ENSEMBL:ENSP00000252826", "ENSEMBL:ENSP00000252826.4"], "information_content": 100.0}
{"id": "NCBIGene:9253", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUMBL", "equivalent_identifiers": ["NCBIGene:9253", "ENSEMBL:ENSG00000105245", "HGNC:8061", "OMIM:604018", "UMLS:C1417891", "UniProtKB:A0A0C4DGH3", "ENSEMBL:ENSP00000442759", "ENSEMBL:ENSP00000442759.1", "ENSEMBL:ENSP00000472400", "ENSEMBL:ENSP00000472400.1", "UMLS:C2355250", "MESH:C530266", "UniProtKB:A8K033", "UniProtKB:B7Z5W0", "UniProtKB:Q9Y6R0", "PR:Q9Y6R0", "ENSEMBL:ENSP00000252891", "ENSEMBL:ENSP00000252891.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9UBB4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ataxin-10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBB4-1", "PR:Q9UBB4-1", "ENSEMBL:ENSP00000252934", "ENSEMBL:ENSP00000252934.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYX4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuron-specific vesicular protein calcyon isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYX4-1", "PR:Q9NYX4-1", "ENSEMBL:ENSP00000252939", "ENSEMBL:ENSP00000252939.4"], "information_content": 100.0}
{"id": "MONDO:0009283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glutaric acidemia type 3", "equivalent_identifiers": ["MONDO:0009283", "DOID:0112246", "OMIM:231690", "orphanet:35706", "UMLS:C0342873", "MESH:C562818", "SNOMEDCT:238070003", "medgen:87464"], "information_content": 100.0}
{"id": "NCBIGene:3050", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HBZ", "equivalent_identifiers": ["NCBIGene:3050", "ENSEMBL:ENSG00000130656", "HGNC:4835", "OMIM:142310", "UMLS:C1415489", "UniProtKB:P02008", "PR:P02008", "ENSEMBL:ENSP00000252951", "ENSEMBL:ENSP00000252951.2", "UMLS:C0301734"], "information_content": 95.4}
{"id": "UniProtKB:P50219-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "motor neuron and pancreas homeobox protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P50219-1", "PR:P50219-1", "ENSEMBL:ENSP00000252971", "ENSEMBL:ENSP00000252971.5"], "information_content": 100.0}
{"id": "MONDO:0001147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meningocele", "equivalent_identifiers": ["MONDO:0001147", "DOID:1088", "UMLS:C0009730", "UMLS:C0025299", "UMLS:C1261470", "MESH:D008588", "MEDDRA:10027266", "NCIT:C101209", "NCIT:C105595", "SNOMEDCT:171131006", "SNOMEDCT:172069000", "SNOMEDCT:65144005", "medgen:44356", "HP:0002435"], "information_content": 73.9}
{"id": "MONDO:0006995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tethered cord", "equivalent_identifiers": ["MONDO:0006995", "DOID:1089", "EFO:1001210", "UMLS:C0080218", "UMLS:C0560648", "MEDDRA:10066334", "MEDDRA:10077133", "NCIT:C99080", "SNOMEDCT:249491000119100", "SNOMEDCT:70534000", "medgen:36387", "HP:0002144"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3M9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 337 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3M9-1", "PR:Q9Y3M9-1", "ENSEMBL:ENSP00000252979", "ENSEMBL:ENSP00000252979.5", "ENSEMBL:ENSP00000365619", "ENSEMBL:ENSP00000365619.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6P2H3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 85 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P2H3-1", "PR:Q6P2H3-1", "ENSEMBL:ENSP00000252992", "ENSEMBL:ENSP00000252992.4"], "information_content": 100.0}
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{"id": "NCBIGene:140628", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GATA5", "equivalent_identifiers": ["NCBIGene:140628", "ENSEMBL:ENSG00000130700", "HGNC:15802", "OMIM:611496", "UMLS:C1423740", "UniProtKB:Q9BWX5", "PR:Q9BWX5", "ENSEMBL:ENSP00000252997", "ENSEMBL:ENSP00000252997.2", "UMLS:C0259073", "UMLS:C1530753", "MESH:C494755", "MESH:D050992"], "information_content": 100.0}
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{"id": "MONDO:0013937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 6B", "equivalent_identifiers": ["MONDO:0013937", "DOID:0081435", "OMIM:614871", "UMLS:C3553948", "NCIT:C155759", "medgen:766862"], "information_content": 100.0}
{"id": "UniProtKB:Q13263-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription intermediary factor 1-beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13263-1", "PR:Q13263-1", "ENSEMBL:ENSP00000253024", "ENSEMBL:ENSP00000253024.4"], "information_content": 100.0}
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{"id": "NCBIGene:1968", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF2S3", "equivalent_identifiers": ["NCBIGene:1968", "ENSEMBL:ENSG00000130741", "HGNC:3267", "OMIM:300161", "UMLS:C1414336", "UniProtKB:P41091", "PR:P41091", "ENSEMBL:ENSP00000253039", "ENSEMBL:ENSP00000253039.4", "UMLS:C4742847", "MESH:C000628423"], "information_content": 84.8}
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{"id": "NCBIGene:54958", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM160", "equivalent_identifiers": ["NCBIGene:54958", "ENSEMBL:ENSG00000130748", "HGNC:26042", "OMIM:620258", "UMLS:C1823424", "UniProtKB:Q9NX00", "PR:Q9NX00", "ENSEMBL:ENSP00000253047", "ENSEMBL:ENSP00000253047.5"], "information_content": 95.4}
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{"id": "NCBIGene:23211", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZC3H4", "equivalent_identifiers": ["NCBIGene:23211", "ENSEMBL:ENSG00000130749", "HGNC:17808", "OMIM:619498", "UMLS:C1425092", "UniProtKB:Q9UPT8", "PR:Q9UPT8", "ENSEMBL:ENSP00000253048", "ENSEMBL:ENSP00000253048.4", "UMLS:C5773191", "MESH:C000724058"], "information_content": 95.4}
{"id": "MONDO:0002771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary fibrosis", "equivalent_identifiers": ["MONDO:0002771", "DOID:3770", "EFO:0009448", "UMLS:C0034069", "MESH:D011658", "MEDDRA:10016649", "MEDDRA:10016660", "MEDDRA:10025088", "MEDDRA:10037383", "MEDDRA:10087671", "NCIT:C26869", "SNOMEDCT:51615001", "medgen:11028", "HP:0002206"], "information_content": 81.3}
{"id": "NCBIGene:4294", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAP3K10", "equivalent_identifiers": ["NCBIGene:4294", "ENSEMBL:ENSG00000130758", "HGNC:6849", "OMIM:600137", "UMLS:C1417009", "UniProtKB:Q02779", "PR:Q02779", "ENSEMBL:ENSP00000253055", "ENSEMBL:ENSP00000253055.2", "UMLS:C1384628", "MESH:C093290"], "information_content": 100.0}
{"id": "NCBIGene:83667", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SESN2", "equivalent_identifiers": ["NCBIGene:83667", "ENSEMBL:ENSG00000130766", "HGNC:20746", "OMIM:607767", "UMLS:C1427105", "UniProtKB:P58004", "PR:P58004", "ENSEMBL:ENSP00000253063", "ENSEMBL:ENSP00000253063.3", "ENSEMBL:ENSP00000496365", "ENSEMBL:ENSP00000496365.1", "UMLS:C1143491", "MESH:C465398"], "information_content": 95.4}
{"id": "UniProtKB:Q6P9F0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 62 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P9F0-1", "PR:Q6P9F0-1", "ENSEMBL:ENSP00000253079", "ENSEMBL:ENSP00000253079.6"], "information_content": 100.0}
{"id": "UniProtKB:O75146-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "huntingtin-interacting protein 1-related protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75146-1", "PR:O75146-1", "ENSEMBL:ENSP00000253083", "ENSEMBL:ENSP00000253083.4"], "information_content": 100.0}
{"id": "MONDO:0010265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Simpson-Golabi-Behmel syndrome type 2", "equivalent_identifiers": ["MONDO:0010265", "DOID:0080342", "OMIM:300209", "UMLS:C1846175", "MESH:C564567", "medgen:337527"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ55-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "suppressor of SWI4 1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ55-1", "PR:Q9NQ55-1", "ENSEMBL:ENSP00000253107", "ENSEMBL:ENSP00000253107.7"], "information_content": 100.0}
{"id": "NCBIGene:8666", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF3G", "equivalent_identifiers": ["NCBIGene:8666", "ENSEMBL:ENSG00000130811", "HGNC:3274", "OMIM:603913", "UMLS:C1414341", "UniProtKB:O75821", "PR:O75821", "ENSEMBL:ENSP00000253108", "ENSEMBL:ENSP00000253108.3"], "information_content": 89.4}
{"id": "MONDO:0010437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe X-linked mitochondrial encephalomyopathy", "equivalent_identifiers": ["MONDO:0010437", "DOID:0111502", "OMIM:300816", "orphanet:238329", "UMLS:C3151753", "UMLS:C4302745", "SNOMEDCT:722212004", "medgen:463103"], "information_content": 100.0}
{"id": "NCBIGene:83854", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANGPTL6", "equivalent_identifiers": ["NCBIGene:83854", "ENSEMBL:ENSG00000130812", "HGNC:23140", "OMIM:609336", "UMLS:C1427941", "UniProtKB:Q8NI99", "PR:Q8NI99", "ENSEMBL:ENSP00000253109", "ENSEMBL:ENSP00000253109.3", "ENSEMBL:ENSP00000467930", "ENSEMBL:ENSP00000467930.1", "UMLS:C1311865", "MESH:C477601"], "information_content": 92.8}
{"id": "UniProtKB:Q9NUL5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "shiftless antiviral inhibitor of ribosomal frameshifting protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUL5-1", "PR:Q9NUL5-1", "ENSEMBL:ENSP00000253110", "ENSEMBL:ENSP00000253110.10"], "information_content": 100.0}
{"id": "NCBIGene:79088", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF426", "equivalent_identifiers": ["NCBIGene:79088", "ENSEMBL:ENSG00000130818", "HGNC:20725", "UMLS:C1427097", "UniProtKB:K7EME3", "ENSEMBL:ENSP00000466469", "ENSEMBL:ENSP00000466469.1", "UMLS:C1958261", "MESH:C520977", "UniProtKB:K7ER43", "ENSEMBL:ENSP00000468100", "ENSEMBL:ENSP00000468100.1", "UniProtKB:Q59EH4", "UniProtKB:Q9BUY5", "PR:Q9BUY5", "ENSEMBL:ENSP00000253115", "ENSEMBL:ENSP00000253115.1", "ENSEMBL:ENSP00000439017", "ENSEMBL:ENSP00000439017.1"], "information_content": 100.0}
{"id": "UniProtKB:P48029-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium- and chloride-dependent creatine transporter 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48029-1", "PR:P48029-1", "ENSEMBL:ENSP00000253122", "ENSEMBL:ENSP00000253122.5"], "information_content": 100.0}
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{"id": "UniProtKB:Q9H8H0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolar protein 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8H0-1", "PR:Q9H8H0-1", "ENSEMBL:ENSP00000253247", "ENSEMBL:ENSP00000253247.4"], "information_content": 100.0}
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{"id": "NCBIGene:54754", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUTM2F", "equivalent_identifiers": ["NCBIGene:54754", "ENSEMBL:ENSG00000130950", "HGNC:23450", "UMLS:C1539403", "UniProtKB:A1L443", "PR:A1L443", "ENSEMBL:ENSP00000253262", "ENSEMBL:ENSP00000253262.4"], "information_content": 100.0}
{"id": "MONDO:0007378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior polymorphous corneal dystrophy 1", "equivalent_identifiers": ["MONDO:0007378", "DOID:0110855", "OMIM:122000", "UMLS:C0339284", "UMLS:C1852555", "MESH:C562745", "MEDDRA:10085885", "SNOMEDCT:29504002", "medgen:343836", "ICD10:H18.50", "HP:0007915"], "information_content": 100.0}
{"id": "MONDO:0012200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior polymorphous corneal dystrophy 3", "equivalent_identifiers": ["MONDO:0012200", "DOID:0110857", "OMIM:609141", "UMLS:C1836724", "MESH:C563788", "medgen:322978"], "information_content": 100.0}
{"id": "UniProtKB:Q76EJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleotide sugar transporter SLC35D2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q76EJ3-1", "PR:Q76EJ3-1", "ENSEMBL:ENSP00000253270", "ENSEMBL:ENSP00000253270.7"], "information_content": 100.0}
{"id": "MONDO:0016344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydranencephaly", "equivalent_identifiers": ["MONDO:0016344", "DOID:4626", "orphanet:2177", "UMLS:C0020225", "MESH:D006832", "MEDDRA:10073472", "NCIT:C98949", "SNOMEDCT:30023002", "medgen:6937", "icd11.foundation:1963574608", "HP:0002324"], "information_content": 95.4}
{"id": "UniProtKB:Q8TDL5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BPI fold-containing family B member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDL5-1", "PR:Q8TDL5-1", "ENSEMBL:ENSP00000253354", "ENSEMBL:ENSP00000253354.1"], "information_content": 100.0}
{"id": "MONDO:0001732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trigonitis", "equivalent_identifiers": ["MONDO:0001732", "DOID:13507", "UMLS:C1261278", "MEDDRA:10044668", "NCIT:C123175", "SNOMEDCT:74445007", "medgen:687797", "icd11.foundation:1938116176", "ICD10:N30.3", "ICD9:595.3"], "information_content": 100.0}
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{"id": "NCBIGene:140683", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BPIFA2", "equivalent_identifiers": ["NCBIGene:140683", "ENSEMBL:ENSG00000131050", "HGNC:16203", "OMIM:621166", "UMLS:C3469646", "UniProtKB:A8K739", "UMLS:C0070121", "MESH:C045623", "UniProtKB:Q96DR5", "PR:Q96DR5", "ENSEMBL:ENSP00000253362", "ENSEMBL:ENSP00000253362.2", "ENSEMBL:ENSP00000347012", "ENSEMBL:ENSP00000347012.5"], "information_content": 95.4}
{"id": "UniProtKB:Q14498-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 39 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14498-1", "PR:Q14498-1", "ENSEMBL:ENSP00000253363", "ENSEMBL:ENSP00000253363.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9NR19-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetyl-coenzyme A synthetase, cytoplasmic isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR19-2", "PR:Q9NR19-2", "ENSEMBL:ENSP00000253382", "ENSEMBL:ENSP00000253382.5"], "information_content": 100.0}
{"id": "NCBIGene:10882", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1QL1", "equivalent_identifiers": ["NCBIGene:10882", "ENSEMBL:ENSG00000131094", "HGNC:24182", "OMIM:611586", "UMLS:C1538975", "UniProtKB:O75973", "PR:O75973", "ENSEMBL:ENSP00000253407", "ENSEMBL:ENSP00000253407.2", "UMLS:C4742295", "MESH:C000627966"], "information_content": 95.4}
{"id": "NCBIGene:2670", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GFAP", "equivalent_identifiers": ["NCBIGene:2670", "ENSEMBL:ENSG00000131095", "HGNC:4235", "OMIM:137780", "UMLS:C1415042", "UniProtKB:A0A1X7SBR3", "ENSEMBL:ENSP00000253408", "ENSEMBL:ENSP00000253408.5", "UniProtKB:P14136", "PR:P14136", "UMLS:C4742805", "MESH:C000628670"]}
{"id": "MONDO:0858960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spindle cell oncocytoma", "equivalent_identifiers": ["MONDO:0858960", "DOID:0081306", "UMLS:C2986561", "NCIT:C94537", "SNOMEDCT:703844007", "medgen:458787"], "information_content": 100.0}
{"id": "MONDO:0016735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papillary glioneuronal tumor", "equivalent_identifiers": ["MONDO:0016735", "DOID:0081283", "orphanet:251962", "UMLS:C2985174", "NCIT:C92554", "SNOMEDCT:450902001", "medgen:457400"], "information_content": 92.8}
{"id": "MONDO:0858957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multinodular and vacuolating neuronal tumor", "equivalent_identifiers": ["MONDO:0858957", "DOID:0081303", "UMLS:C4330721", "NCIT:C129427", "medgen:1372723"], "information_content": 90.9}
{"id": "MONDO:0007017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitreous detachment", "equivalent_identifiers": ["MONDO:0007017", "DOID:9726", "EFO:1001238", "UMLS:C0042907", "UMLS:C0423361", "MESH:D020255", "MEDDRA:10047650", "MEDDRA:10058006", "NCIT:C50807", "SNOMEDCT:247081001", "SNOMEDCT:53772007", "medgen:140839", "HP:0001489"], "information_content": 100.0}
{"id": "NCBIGene:51751", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HIGD1B", "equivalent_identifiers": ["NCBIGene:51751", "ENSEMBL:ENSG00000131097", "HGNC:24318", "OMIM:620420", "UMLS:C1825469", "UniProtKB:Q9P298", "PR:Q9P298", "ENSEMBL:ENSP00000253410", "ENSEMBL:ENSP00000253410.1", "ENSEMBL:ENSP00000468511", "ENSEMBL:ENSP00000468511.1"], "information_content": 100.0}
{"id": "UniProtKB:P36543-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-type proton ATPase subunit E 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P36543-1", "PR:P36543-1", "ENSEMBL:ENSP00000253413", "ENSEMBL:ENSP00000253413.5"], "information_content": 100.0}
{"id": "UniProtKB:O43402-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ER membrane protein complex subunit 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43402-1", "PR:O43402-1", "ENSEMBL:ENSP00000253457", "ENSEMBL:ENSP00000253457.3"], "information_content": 100.0}
{"id": "UniProtKB:Q14687-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "genetic suppressor element 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14687-1", "PR:Q14687-1", "ENSEMBL:ENSP00000253458", "ENSEMBL:ENSP00000253458.6"], "information_content": 100.0}
{"id": "MONDO:0007784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "selective pituitary resistance to thyroid hormone", "equivalent_identifiers": ["MONDO:0007784", "DOID:0111374", "OMIM:145650", "UMLS:C1840364", "MESH:C564154", "SNOMEDCT:1260241001", "medgen:333543", "icd11.foundation:482664523"], "information_content": 100.0}
{"id": "NCBIGene:51659", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GINS2", "equivalent_identifiers": ["NCBIGene:51659", "ENSEMBL:ENSG00000131153", "HGNC:24575", "OMIM:610609", "UMLS:C1825348", "UniProtKB:Q9Y248", "PR:Q9Y248", "ENSEMBL:ENSP00000253462", "ENSEMBL:ENSP00000253462.3", "UMLS:C3180053", "MESH:C556406"], "information_content": 92.8}
{"id": "NCBIGene:2161", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "F12", "equivalent_identifiers": ["NCBIGene:2161", "ENSEMBL:ENSG00000131187", "HGNC:3530", "OMIM:610619", "UMLS:C1414499", "UniProtKB:P00748", "PR:P00748", "ENSEMBL:ENSP00000253496", "ENSEMBL:ENSP00000253496.3", "UMLS:C4721527", "UniProtKB:Q8IZZ5"], "information_content": 81.7}
{"id": "UniProtKB:O75027-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "iron-sulfur clusters transporter ABCB7, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75027-2", "PR:O75027-2", "ENSEMBL:ENSP00000253577", "ENSEMBL:ENSP00000253577.3"], "information_content": 100.0}
{"id": "UniProtKB:P82663-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ribosomal subunit protein mS25 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P82663-1", "PR:P82663-1", "ENSEMBL:ENSP00000253686", "ENSEMBL:ENSP00000253686.2", "ENSEMBL:ENSP00000511812", "ENSEMBL:ENSP00000511812.1", "ENSEMBL:ENSP00000511849", "ENSEMBL:ENSP00000511849.1", "ENSEMBL:ENSP00000511852", "ENSEMBL:ENSP00000511852.1", "ENSEMBL:ENSP00000511853", "ENSEMBL:ENSP00000511853.1", "ENSEMBL:ENSP00000511855", "ENSEMBL:ENSP00000511855.1", "ENSEMBL:ENSP00000511856", "ENSEMBL:ENSP00000511856.1", "ENSEMBL:ENSP00000511860", "ENSEMBL:ENSP00000511860.1", "ENSEMBL:ENSP00000511862", "ENSEMBL:ENSP00000511862.1", "ENSEMBL:ENSP00000511863", "ENSEMBL:ENSP00000511863.1", "ENSEMBL:ENSP00000511867", "ENSEMBL:ENSP00000511867.1", "ENSEMBL:ENSP00000511868", "ENSEMBL:ENSP00000511868.1", "ENSEMBL:ENSP00000511870", "ENSEMBL:ENSP00000511870.1", "ENSEMBL:ENSP00000513929", "ENSEMBL:ENSP00000513929.1", "ENSEMBL:ENSP00000513930", "ENSEMBL:ENSP00000513930.1"], "information_content": 100.0}
{"id": "NCBIGene:23473", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAPN7", "equivalent_identifiers": ["NCBIGene:23473", "ENSEMBL:ENSG00000131375", "HGNC:1484", "OMIM:606400", "UMLS:C1413117", "UniProtKB:Q7Z479", "UniProtKB:Q9Y6W3", "PR:Q9Y6W3", "ENSEMBL:ENSP00000253693", "ENSEMBL:ENSP00000253693.2"], "information_content": 89.4}
{"id": "UniProtKB:Q8ND61-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C3orf20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8ND61-1", "PR:Q8ND61-1", "ENSEMBL:ENSP00000253697", "ENSEMBL:ENSP00000253697.3"], "information_content": 100.0}
{"id": "MONDO:0013864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornelia de Lange syndrome 4", "equivalent_identifiers": ["MONDO:0013864", "DOID:0080508", "OMIM:614701", "UMLS:C3553517", "medgen:766431"], "information_content": 100.0}
{"id": "MONDO:0019100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuromyelitis optica", "equivalent_identifiers": ["MONDO:0019100", "DOID:8869", "orphanet:71211", "EFO:0004256", "EFO:0020919", "UMLS:C0027873", "UMLS:C0221059", "MESH:D009471", "MEDDRA:10012574", "MEDDRA:10029322", "MEDDRA:10041225", "MEDDRA:10052887", "MEDDRA:10058009", "MEDDRA:10077875", "NCIT:C84934", "SNOMEDCT:25044007", "medgen:45063", "icd11.foundation:744293382", "ICD10:G36.0", "ICD9:341.0"], "information_content": 90.9}
{"id": "MONDO:0010392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to phosphoglycerate kinase 1 deficiency", "equivalent_identifiers": ["MONDO:0010392", "DOID:0111933", "OMIM:300653", "orphanet:713", "UMLS:C1970848", "MESH:C567067", "NCIT:C126738", "medgen:410166", "icd11.foundation:1396572570"], "information_content": 100.0}
{"id": "UniProtKB:Q9H1K0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rabenosyn-5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1K0-1", "PR:Q9H1K0-1", "ENSEMBL:ENSP00000253699", "ENSEMBL:ENSP00000253699.3", "ENSEMBL:ENSP00000422551", "ENSEMBL:ENSP00000422551.1"], "information_content": 100.0}
{"id": "NCBIGene:9476", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAPSA", "equivalent_identifiers": ["NCBIGene:9476", "ENSEMBL:ENSG00000131400", "HGNC:13395", "OMIM:605631", "UMLS:C1538038", "UniProtKB:M0QXC5", "ENSEMBL:ENSP00000469061", "ENSEMBL:ENSP00000469061.2", "UMLS:C1452512", "MESH:C498549", "UniProtKB:O96009", "PR:O96009", "ENSEMBL:ENSP00000253719", "ENSEMBL:ENSP00000253719.1"], "information_content": 95.4}
{"id": "MONDO:0002807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchial neoplasm", "equivalent_identifiers": ["MONDO:0002807", "DOID:3906", "EFO:1000849", "UMLS:C0006264", "MESH:D001984", "MEDDRA:10052245", "SNOMEDCT:126705004", "medgen:2735", "HP:0030077"], "information_content": 84.2}
{"id": "UniProtKB:P50479-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PDZ and LIM domain protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P50479-1", "PR:P50479-1", "ENSEMBL:ENSP00000253754", "ENSEMBL:ENSP00000253754.3"], "information_content": 100.0}
{"id": "NCBIGene:9945", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GFPT2", "equivalent_identifiers": ["NCBIGene:9945", "ENSEMBL:ENSG00000131459", "HGNC:4242", "OMIM:603865", "UMLS:C1415047", "UniProtKB:A0A0S2Z4X9", "UMLS:C1436186", "MESH:C482898", "UniProtKB:B3KMR8", "UniProtKB:O94808", "PR:O94808", "ENSEMBL:ENSP00000253778", "ENSEMBL:ENSP00000253778.8"], "information_content": 89.4}
{"id": "NCBIGene:84313", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VPS25", "equivalent_identifiers": ["NCBIGene:84313", "ENSEMBL:ENSG00000131475", "HGNC:28122", "OMIM:610907", "UMLS:C1823637", "UniProtKB:Q9BRG1", "PR:Q9BRG1", "ENSEMBL:ENSP00000253794", "ENSEMBL:ENSP00000253794.1"], "information_content": 95.4}
{"id": "UniProtKB:O60895-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor activity-modifying protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60895-1", "PR:O60895-1", "ENSEMBL:ENSP00000253796", "ENSEMBL:ENSP00000253796.3"], "information_content": 100.0}
{"id": "UniProtKB:O75106-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amine oxidase [copper-containing] 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75106-1", "PR:O75106-1", "ENSEMBL:ENSP00000253799", "ENSEMBL:ENSP00000253799.2"], "information_content": 100.0}
{"id": "UniProtKB:P35575-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glucose-6-phosphatase catalytic subunit 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35575-1", "PR:P35575-1", "ENSEMBL:ENSP00000253801", "ENSEMBL:ENSP00000253801.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H158-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin alpha-C1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9H158-1", "PR:Q9H158-1", "ENSEMBL:ENSP00000253807", "ENSEMBL:ENSP00000253807.2", "ENSEMBL:ENSP00000517178", "ENSEMBL:ENSP00000517178.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5H0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-A3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5H0-1", "PR:Q9Y5H0-1", "ENSEMBL:ENSP00000253812", "ENSEMBL:ENSP00000253812.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9BT67-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NEDD4 family-interacting protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BT67-1", "PR:Q9BT67-1", "ENSEMBL:ENSP00000253814", "ENSEMBL:ENSP00000253814.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96A65-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exocyst complex component 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96A65-1", "PR:Q96A65-1", "ENSEMBL:ENSP00000253861", "ENSEMBL:ENSP00000253861.4", "ENSEMBL:ENSP00000520904", "ENSEMBL:ENSP00000520904.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13136-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "liprin-alpha-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13136-1", "PR:Q13136-1", "ENSEMBL:ENSP00000253925", "ENSEMBL:ENSP00000253925.7", "ENSEMBL:ENSP00000500898", "ENSEMBL:ENSP00000500898.2"], "information_content": 100.0}
{"id": "UniProtKB:Q4VC44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FLYWCH-type zinc finger-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4VC44-1", "PR:Q4VC44-1", "ENSEMBL:ENSP00000253928", "ENSEMBL:ENSP00000253928.9"], "information_content": 100.0}
{"id": "UniProtKB:Q9HBU1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein BarH-like 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBU1-1", "PR:Q9HBU1-1", "ENSEMBL:ENSP00000253968", "ENSEMBL:ENSP00000253968.5"], "information_content": 100.0}
{"id": "NCBIGene:84240", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZCCHC9", "equivalent_identifiers": ["NCBIGene:84240", "ENSEMBL:ENSG00000131732", "HGNC:25424", "OMIM:620382", "UMLS:C1428484", "UniProtKB:Q8N567", "PR:Q8N567", "ENSEMBL:ENSP00000254037", "ENSEMBL:ENSP00000254037.2", "ENSEMBL:ENSP00000369546", "ENSEMBL:ENSP00000369546.5", "ENSEMBL:ENSP00000385047", "ENSEMBL:ENSP00000385047.3", "ENSEMBL:ENSP00000412637", "ENSEMBL:ENSP00000412637.2", "UMLS:C3181815", "MESH:C558792"], "information_content": 92.8}
{"id": "MONDO:0004428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alveoli adenoma", "equivalent_identifiers": ["MONDO:0004428", "DOID:8003", "UMLS:C0334303", "NCIT:C4140", "SNOMEDCT:8097004", "medgen:137740"], "information_content": 100.0}
{"id": "NCBIGene:84951", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNS4", "equivalent_identifiers": ["NCBIGene:84951", "ENSEMBL:ENSG00000131746", "HGNC:24352", "OMIM:608385", "UMLS:C1823462", "UniProtKB:Q6PJP3", "UMLS:C4308301", "MESH:C000603371", "UniProtKB:Q8IZW8", "PR:Q8IZW8", "ENSEMBL:ENSP00000254051", "ENSEMBL:ENSP00000254051.6"], "information_content": 95.4}
{"id": "UniProtKB:P10276-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinoic acid receptor alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P10276-1", "PR:P10276-1", "ENSEMBL:ENSP00000254066", "ENSEMBL:ENSP00000254066.5", "ENSEMBL:ENSP00000377649", "ENSEMBL:ENSP00000377649.2"], "information_content": 95.4}
{"id": "NCBIGene:83901", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP9-8", "equivalent_identifiers": ["NCBIGene:83901", "ENSEMBL:ENSG00000187272", "HGNC:17231", "UMLS:C1424841", "UniProtKB:A0AAG2UVN4", "ENSEMBL:ENSP00000517797", "ENSEMBL:ENSP00000517797.1", "UniProtKB:Q9BYQ0", "PR:Q9BYQ0", "ENSEMBL:ENSP00000254072", "ENSEMBL:ENSP00000254072.6"], "information_content": 100.0}
{"id": "MONDO:0007002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trochlear nerve disorder", "equivalent_identifiers": ["MONDO:0007002", "DOID:13864", "EFO:1001220", "UMLS:C0423092", "UMLS:C0751939", "UMLS:C4048184", "MESH:D020432", "MEDDRA:10065836", "MEDDRA:10074765", "MEDDRA:10085542", "NCIT:C78395", "SNOMEDCT:246781001", "medgen:888203", "ICD10:H49.1", "ICD9:378.53"], "information_content": 90.9}
{"id": "MONDO:0007018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvitis", "equivalent_identifiers": ["MONDO:0007018", "DOID:3901", "EFO:1001239", "UMLS:C0042996", "MESH:D014847", "MEDDRA:10047780", "SNOMEDCT:63144007", "medgen:22690", "icd11.foundation:727252860", "ICD10:N76.2"], "information_content": 88.2}
{"id": "UniProtKB:Q9UD71-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1 regulatory subunit 1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UD71-1", "PR:Q9UD71-1", "ENSEMBL:ENSP00000254079", "ENSEMBL:ENSP00000254079.4", "ENSEMBL:ENSP00000462137", "ENSEMBL:ENSP00000462137.1"], "information_content": 100.0}
{"id": "UniProtKB:P49326-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "flavin-containing monooxygenase 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49326-1", "PR:P49326-1", "ENSEMBL:ENSP00000254090", "ENSEMBL:ENSP00000254090.4"], "information_content": 100.0}
{"id": "UniProtKB:O43741-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5'-AMP-activated protein kinase subunit beta-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43741-1", "PR:O43741-1", "ENSEMBL:ENSP00000254101", "ENSEMBL:ENSP00000254101.3"], "information_content": 100.0}
{"id": "UniProtKB:P35637-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein FUS isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P35637-1", "PR:P35637-1", "ENSEMBL:ENSP00000254108", "ENSEMBL:ENSP00000254108.8"], "information_content": 100.0}
{"id": "UniProtKB:P52740-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 132 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P52740-1", "PR:P52740-1", "ENSEMBL:ENSP00000254166", "ENSEMBL:ENSP00000254166.2"], "information_content": 100.0}
{"id": "MONDO:0001164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "antisocial personality disorder", "equivalent_identifiers": ["MONDO:0001164", "DOID:10939", "UMLS:C0003431", "MESH:D000987", "MEDDRA:10002821", "MEDDRA:10002822", "MEDDRA:10003473", "MEDDRA:10013455", "MEDDRA:10037217", "MEDDRA:10037218", "MEDDRA:10041260", "MEDDRA:10041261", "NCIT:C88413", "SNOMEDCT:26665006", "medgen:1611", "icd11.foundation:779282819", "ICD10:F60.2", "ICD9:301.7"], "information_content": 100.0}
{"id": "NCBIGene:57663", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP29", "equivalent_identifiers": ["NCBIGene:57663", "ENSEMBL:ENSG00000131864", "HGNC:18563", "OMIM:609546", "UMLS:C1425603", "UniProtKB:A1L447", "UniProtKB:Q9HBJ7", "PR:Q9HBJ7", "ENSEMBL:ENSP00000254181", "ENSEMBL:ENSP00000254181.3", "ENSEMBL:ENSP00000470747", "ENSEMBL:ENSP00000470747.1", "UMLS:C3711824", "MESH:C579223"], "information_content": 100.0}
{"id": "MONDO:0010506", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 61", "equivalent_identifiers": ["MONDO:0010506", "DOID:0112042", "OMIM:300978", "UMLS:C4283894", "medgen:924419"], "information_content": 100.0}
{"id": "NCBIGene:22856", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHSY1", "equivalent_identifiers": ["NCBIGene:22856", "ENSEMBL:ENSG00000131873", "HGNC:17198", "OMIM:608183", "UMLS:C1424814", "UniProtKB:Q86X52", "PR:Q86X52", "ENSEMBL:ENSP00000254190", "ENSEMBL:ENSP00000254190.3", "UMLS:C1432683", "MESH:C498800"], "information_content": 95.4}
{"id": "MONDO:0014507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Catel-Manzke syndrome", "equivalent_identifiers": ["MONDO:0014507", "DOID:0081122", "OMIM:616145", "orphanet:1388", "UMLS:C1844887", "MESH:C535347", "MEDDRA:10083949", "SNOMEDCT:722383001", "medgen:375536", "icd11.foundation:1023183031"], "information_content": 100.0}
{"id": "NCBIGene:6627", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNRPA1", "equivalent_identifiers": ["NCBIGene:6627", "ENSEMBL:ENSG00000131876", "HGNC:11152", "OMIM:603521", "UMLS:C1420284", "UniProtKB:P09661", "PR:P09661", "ENSEMBL:ENSP00000254193", "ENSEMBL:ENSP00000254193.6", "UMLS:C1435967", "MESH:C484318"], "information_content": 90.9}
{"id": "MONDO:0001495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hematocele", "equivalent_identifiers": ["MONDO:0001495", "DOID:12332", "UMLS:C0018931", "UMLS:C1456400", "MESH:D006398", "MEDDRA:10018833", "MEDDRA:10060542", "SNOMEDCT:103620004", "SNOMEDCT:66259004", "medgen:42386"], "information_content": 100.0}
{"id": "NCBIGene:8431", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NR0B2", "equivalent_identifiers": ["NCBIGene:8431", "ENSEMBL:ENSG00000131910", "HGNC:7961", "OMIM:604630", "UMLS:C1334896", "UniProtKB:Q15466", "PR:Q15466", "ENSEMBL:ENSP00000254227", "ENSEMBL:ENSP00000254227.3", "UMLS:C1335142"], "information_content": 100.0}
{"id": "MONDO:0006783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemopneumothorax", "equivalent_identifiers": ["MONDO:0006783", "DOID:2718", "EFO:1000963", "UMLS:C0019077", "MESH:D006468", "MEDDRA:10048644", "MEDDRA:10060632", "SNOMEDCT:16632002", "medgen:9208", "ICD10:J94.2"], "information_content": 100.0}
{"id": "MONDO:0006964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secondary hyperparathyroidism", "equivalent_identifiers": ["MONDO:0006964", "DOID:12466", "EFO:1001173", "UMLS:C0020503", "MESH:D006962", "MEDDRA:10020708", "NCIT:C113335", "SNOMEDCT:91478007", "medgen:9368", "icd11.foundation:1442752937", "HP:0000867"], "information_content": 88.2}
{"id": "UniProtKB:Q9NVV9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "THAP domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVV9-1", "PR:Q9NVV9-1", "ENSEMBL:ENSP00000254250", "ENSEMBL:ENSP00000254250.3"], "information_content": 100.0}
{"id": "MONDO:0007920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphatic malformation 5", "equivalent_identifiers": ["MONDO:0007920", "DOID:0070213", "OMIM:153200", "orphanet:90186", "UMLS:C0238261", "UMLS:C1704424", "UMLS:C4746631", "MESH:C562467", "MEDDRA:10025285", "MEDDRA:10054461", "SNOMEDCT:400040008", "SNOMEDCT:77123007", "medgen:1648463", "ICD10:I89.0"], "information_content": 100.0}
{"id": "MONDO:0010772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber optic atrophy and dystonia", "equivalent_identifiers": ["MONDO:0010772", "DOID:0111755", "OMIM:500001", "UMLS:C1839040", "MESH:C536024", "medgen:333240"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUC4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rhophilin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUC4-1", "PR:Q8IUC4-1", "ENSEMBL:ENSP00000254260", "ENSEMBL:ENSP00000254260.2"], "information_content": 100.0}
{"id": "NCBIGene:55860", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTR10", "equivalent_identifiers": ["NCBIGene:55860", "ENSEMBL:ENSG00000131966", "HGNC:17372", "OMIM:619731", "UMLS:C1424943", "UniProtKB:Q9NZ32", "PR:Q9NZ32", "ENSEMBL:ENSP00000254286", "ENSEMBL:ENSP00000254286.4"], "information_content": 92.8}
{"id": "MONDO:0008493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "overhydrated hereditary stomatocytosis", "equivalent_identifiers": ["MONDO:0008493", "DOID:0111562", "OMIM:185000", "orphanet:3203", "UMLS:C1861455", "MESH:C566111", "SNOMEDCT:722125003", "medgen:348876", "icd11.foundation:595647587"], "information_content": 100.0}
{"id": "MONDO:0002896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary syphilis", "equivalent_identifiers": ["MONDO:0002896", "DOID:4156", "UMLS:C0153139", "UMLS:C2931317", "MESH:C536772", "MEDDRA:10014059", "MEDDRA:10056884", "NCIT:C128412", "SNOMEDCT:186846005", "SNOMEDCT:266127002", "medgen:419772", "ICD9:091"], "information_content": 100.0}
{"id": "NCBIGene:3958", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LGALS3", "equivalent_identifiers": ["NCBIGene:3958", "ENSEMBL:ENSG00000131981", "HGNC:6563", "OMIM:153619", "UMLS:C1416831", "UniProtKB:A0A024R693", "UniProtKB:P17931", "PR:P17931", "ENSEMBL:ENSP00000254301", "ENSEMBL:ENSP00000254301.9", "UMLS:C3710772", "MESH:C428445"], "information_content": 90.9}
{"id": "UniProtKB:P25685-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily B member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P25685-1", "PR:P25685-1", "ENSEMBL:ENSP00000254322", "ENSEMBL:ENSP00000254322.1"], "information_content": 100.0}
{"id": "NCBIGene:5989", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RFX1", "equivalent_identifiers": ["NCBIGene:5989", "ENSEMBL:ENSG00000132005", "HGNC:9982", "OMIM:600006", "UMLS:C1419359", "UniProtKB:P22670", "PR:P22670", "ENSEMBL:ENSP00000254325", "ENSEMBL:ENSP00000254325.3", "ENSEMBL:ENSP00000500760", "ENSEMBL:ENSP00000500760.1", "UMLS:C4308220", "MESH:C000605537"], "information_content": 100.0}
{"id": "UniProtKB:Q0VDD7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "break repair meiotic recombinase recruitment factor 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q0VDD7-2", "PR:Q0VDD7-2", "ENSEMBL:ENSP00000254336", "ENSEMBL:ENSP00000254336.1", "ENSEMBL:ENSP00000500761", "ENSEMBL:ENSP00000500761.1"], "information_content": 100.0}
{"id": "DOID:0070276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary nonpolyposis colorectal cancer type 7", "equivalent_identifiers": ["DOID:0070276"]}
{"id": "NCBIGene:90379", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCAF15", "equivalent_identifiers": ["NCBIGene:90379", "ENSEMBL:ENSG00000132017", "HGNC:25095", "OMIM:620109", "UMLS:C2681315", "UniProtKB:Q66K64", "PR:Q66K64", "ENSEMBL:ENSP00000254337", "ENSEMBL:ENSP00000254337.5", "ENSEMBL:ENSP00000500158", "ENSEMBL:ENSP00000500158.1", "UMLS:C5391292", "MESH:C000656687"], "information_content": 88.2}
{"id": "UniProtKB:P19474-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM21 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P19474-1", "PR:P19474-1", "ENSEMBL:ENSP00000254436", "ENSEMBL:ENSP00000254436.7"], "information_content": 100.0}
{"id": "MONDO:0009169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endocardial fibroelastosis", "equivalent_identifiers": ["MONDO:0009169", "DOID:12929", "OMIM:226000", "orphanet:2022", "EFO:0007251", "UMLS:C0014117", "MESH:D004695", "MEDDRA:10014663", "NCIT:C98922", "SNOMEDCT:65457005", "medgen:4041", "icd11.foundation:1971033419", "ICD10:I42.4", "ICD9:425.3", "HP:0001706"], "information_content": 100.0}
{"id": "MONDO:0007930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bernard-Soulier syndrome, type A2, autosomal dominant", "equivalent_identifiers": ["MONDO:0007930", "DOID:0111059", "OMIM:153670", "UMLS:C3277076", "medgen:478706"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4E6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4E6-1", "PR:Q9Y4E6-1", "ENSEMBL:ENSP00000254442", "ENSEMBL:ENSP00000254442.3"], "information_content": 100.0}
{"id": "MONDO:0009185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelocerebrohypohidrotic syndrome", "equivalent_identifiers": ["MONDO:0009185", "DOID:0111668", "OMIM:226750", "orphanet:1946", "UMLS:C0406740", "MESH:C537213", "SNOMEDCT:109478007", "medgen:98036"], "information_content": 100.0}
{"id": "NCBIGene:6599", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMARCC1", "equivalent_identifiers": ["NCBIGene:6599", "ENSEMBL:ENSG00000173473", "HGNC:11104", "OMIM:601732", "UMLS:C1335845", "UniProtKB:Q58EY4", "UniProtKB:Q92922", "PR:Q92922", "ENSEMBL:ENSP00000254480", "ENSEMBL:ENSP00000254480.5", "UMLS:C1332365", "MESH:C101681"], "information_content": 89.4}
{"id": "UniProtKB:P48066-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium- and chloride-dependent GABA transporter 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48066-1", "PR:P48066-1", "ENSEMBL:ENSP00000254488", "ENSEMBL:ENSP00000254488.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TEM1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear pore membrane glycoprotein 210 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEM1-1", "PR:Q8TEM1-1", "ENSEMBL:ENSP00000254508", "ENSEMBL:ENSP00000254508.5"], "information_content": 100.0}
{"id": "MONDO:0010521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 1E", "equivalent_identifiers": ["MONDO:0010521", "DOID:0110058", "OMIM:301200", "UMLS:C1845052", "UMLS:C1845053", "MESH:C538243", "MESH:C564463", "medgen:336847"], "information_content": 100.0}
{"id": "UniProtKB:P56937-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P56937-1", "PR:P56937-1", "ENSEMBL:ENSP00000254521", "ENSEMBL:ENSP00000254521.3"], "information_content": 100.0}
{"id": "NCBIGene:84034", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EMILIN2", "equivalent_identifiers": ["NCBIGene:84034", "ENSEMBL:ENSG00000132205", "HGNC:19881", "OMIM:608928", "UMLS:C1426503", "UniProtKB:Q9BXX0", "PR:Q9BXX0", "ENSEMBL:ENSP00000254528", "ENSEMBL:ENSP00000254528.3", "UMLS:C1447980", "MESH:C426245"], "information_content": 80.9}
{"id": "MONDO:0002962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolytic acanthoma", "equivalent_identifiers": ["MONDO:0002962", "DOID:4323", "UMLS:C1333414", "NCIT:C27516", "SNOMEDCT:733892008", "medgen:272577"], "information_content": 100.0}
{"id": "UniProtKB:Q96M86-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein heavy chain domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96M86-3", "PR:Q96M86-3", "ENSEMBL:ENSP00000254579", "ENSEMBL:ENSP00000254579.6"], "information_content": 100.0}
{"id": "NCBIGene:23378", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RRP8", "equivalent_identifiers": ["NCBIGene:23378", "ENSEMBL:ENSG00000132275", "HGNC:29030", "OMIM:615818", "UMLS:C2680360", "UniProtKB:O43159", "PR:O43159", "ENSEMBL:ENSP00000254605", "ENSEMBL:ENSP00000254605.6", "UMLS:C2354281", "MESH:C529371"], "information_content": 100.0}
{"id": "NCBIGene:26515", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMM10B", "equivalent_identifiers": ["NCBIGene:26515", "ENSEMBL:ENSG00000132286", "HGNC:4022", "OMIM:607388", "UMLS:C1414871", "UniProtKB:B2R4A9", "UMLS:C1308736", "MESH:C114529", "UniProtKB:Q9Y5J6", "PR:Q9Y5J6", "ENSEMBL:ENSP00000254616", "ENSEMBL:ENSP00000254616.6", "ENSEMBL:ENSP00000436948", "ENSEMBL:ENSP00000436948.1"], "information_content": 95.4}
{"id": "UniProtKB:Q14156-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein EFR3 homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14156-1", "PR:Q14156-1", "ENSEMBL:ENSP00000254624", "ENSEMBL:ENSP00000254624.5"], "information_content": 100.0}
{"id": "UniProtKB:Q02509-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "otoconin-90 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02509-1", "PR:Q02509-1", "ENSEMBL:ENSP00000254627", "ENSEMBL:ENSP00000254627.3"], "information_content": 100.0}
{"id": "MONDO:0006008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vestibular neuronitis", "equivalent_identifiers": ["MONDO:0006008", "DOID:12683", "EFO:0007537", "UMLS:C0153113", "UMLS:C0751908", "MESH:D020338", "MEDDRA:10014980", "MEDDRA:10047393", "MEDDRA:10085178", "SNOMEDCT:186738001", "medgen:155655", "ICD10:H81.2", "ICD9:386.12"], "information_content": 100.0}
{"id": "UniProtKB:Q96EY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ribosomal subunit protein mS39 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EY7-1", "PR:Q96EY7-1", "ENSEMBL:ENSP00000254630", "ENSEMBL:ENSP00000254630.7"], "information_content": 100.0}
{"id": "UniProtKB:O15055-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "period circadian protein homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15055-1", "PR:O15055-1", "ENSEMBL:ENSP00000254657", "ENSEMBL:ENSP00000254657.3", "ENSEMBL:ENSP00000516757", "ENSEMBL:ENSP00000516757.1", "ENSEMBL:ENSP00000516758", "ENSEMBL:ENSP00000516758.1"], "information_content": 100.0}
{"id": "NCBIGene:10267", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAMP1", "equivalent_identifiers": ["NCBIGene:10267", "ENSEMBL:ENSG00000132329", "HGNC:9843", "OMIM:605153", "UMLS:C1419254", "UniProtKB:E9PC20", "ENSEMBL:ENSP00000384688", "ENSEMBL:ENSP00000384688.2", "ENSEMBL:ENSP00000386046", "ENSEMBL:ENSP00000386046.1", "ENSEMBL:ENSP00000386720", "ENSEMBL:ENSP00000386720.1", "UniProtKB:O60894", "PR:O60894", "ENSEMBL:ENSP00000254661", "ENSEMBL:ENSP00000254661.4", "UMLS:C1570780", "MESH:C545502"], "information_content": 90.9}
{"id": "UniProtKB:P23469-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase epsilon isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P23469-1", "PR:P23469-1", "ENSEMBL:ENSP00000254667", "ENSEMBL:ENSP00000254667.3"], "information_content": 100.0}
{"id": "NCBIGene:84674", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CARD6", "equivalent_identifiers": ["NCBIGene:84674", "ENSEMBL:ENSG00000132357", "HGNC:16394", "OMIM:609986", "UMLS:C1424245", "UniProtKB:Q9BX69", "PR:Q9BX69", "ENSEMBL:ENSP00000254691", "ENSEMBL:ENSP00000254691.5", "UMLS:C1312331", "MESH:C478017"], "information_content": 100.0}
{"id": "NCBIGene:6117", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPA1", "equivalent_identifiers": ["NCBIGene:6117", "ENSEMBL:ENSG00000132383", "HGNC:10289", "OMIM:179835", "UMLS:C1419618", "UniProtKB:P27694", "PR:P27694", "ENSEMBL:ENSP00000254719", "ENSEMBL:ENSP00000254719.4", "UMLS:C0122446", "UMLS:C3537332", "MESH:C497167"], "information_content": 87.2}
{"id": "NCBIGene:5176", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINF1", "equivalent_identifiers": ["NCBIGene:5176", "ENSEMBL:ENSG00000132386", "HGNC:8824", "OMIM:172860", "UMLS:C1418450", "UniProtKB:A0A140VKF3", "UniProtKB:P36955", "PR:P36955", "ENSEMBL:ENSP00000254722", "ENSEMBL:ENSP00000254722.4", "UMLS:C1528286"], "information_content": 84.2}
{"id": "UniProtKB:P57772-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "selenocysteine-specific elongation factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P57772-1", "PR:P57772-1", "ENSEMBL:ENSP00000254730", "ENSEMBL:ENSP00000254730.5", "ENSEMBL:ENSP00000494933", "ENSEMBL:ENSP00000494933.1"], "information_content": 100.0}
{"id": "NCBIGene:51805", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COQ3", "equivalent_identifiers": ["NCBIGene:51805", "ENSEMBL:ENSG00000132423", "HGNC:18175", "OMIM:605196", "UMLS:C1425361", "UniProtKB:Q9NZJ6", "PR:Q9NZJ6", "ENSEMBL:ENSP00000254759", "ENSEMBL:ENSP00000254759.3", "UMLS:C1311978"], "information_content": 95.4}
{"id": "MONDO:0018151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coenzyme Q10 deficiency", "equivalent_identifiers": ["MONDO:0018151", "DOID:0050730", "OMIM.PS:607426", "orphanet:35656", "UMLS:C1843920", "MESH:C564403", "NCIT:C142083", "SNOMEDCT:724575009", "medgen:334528", "icd11.foundation:1251664337"], "information_content": 83.6}
{"id": "NCBIGene:64208", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POPDC3", "equivalent_identifiers": ["NCBIGene:64208", "ENSEMBL:ENSG00000132429", "HGNC:17649", "OMIM:605824", "UMLS:C1425025", "UniProtKB:Q9HBV1", "PR:Q9HBV1", "ENSEMBL:ENSP00000254765", "ENSEMBL:ENSP00000254765.3", "UMLS:C1432831", "MESH:C498792"], "information_content": 95.4}
{"id": "NCBIGene:55915", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LANCL2", "equivalent_identifiers": ["NCBIGene:55915", "ENSEMBL:ENSG00000132434", "HGNC:6509", "OMIM:612919", "UMLS:C1416796", "UniProtKB:B3KTN5", "UMLS:C1174590", "MESH:C471704", "UniProtKB:Q9NS86", "PR:Q9NS86", "ENSEMBL:ENSP00000254770", "ENSEMBL:ENSP00000254770.2"], "information_content": 100.0}
{"id": "UniProtKB:Q12849-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G-rich sequence factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12849-1", "PR:Q12849-1", "ENSEMBL:ENSP00000254799", "ENSEMBL:ENSP00000254799.6"], "information_content": 100.0}
{"id": "MONDO:0012191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1", "equivalent_identifiers": ["MONDO:0012191", "DOID:0111474", "OMIM:609060", "orphanet:137681", "UMLS:C1836797", "UMLS:C4707239", "MESH:C563797", "NCIT:C125663", "SNOMEDCT:764962002", "medgen:322999"], "information_content": 100.0}
{"id": "MONDO:0032726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 39", "equivalent_identifiers": ["MONDO:0032726", "DOID:0111475", "OMIM:618397", "orphanet:565624", "UMLS:C5193075", "SNOMEDCT:1279845005", "medgen:1683958"], "information_content": 100.0}
{"id": "MONDO:0012534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 4", "equivalent_identifiers": ["MONDO:0012534", "DOID:0111494", "OMIM:610678", "orphanet:254925", "UMLS:C1857682", "MESH:C565690", "SNOMEDCT:766876004", "medgen:387884"], "information_content": 100.0}
{"id": "NCBIGene:57050", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UTP3", "equivalent_identifiers": ["NCBIGene:57050", "ENSEMBL:ENSG00000132467", "HGNC:24477", "OMIM:611614", "UMLS:C1969026", "UniProtKB:Q9NQZ2", "PR:Q9NQZ2", "ENSEMBL:ENSP00000254803", "ENSEMBL:ENSP00000254803.2", "UMLS:C3252930", "MESH:C568895"], "information_content": 92.8}
{"id": "MONDO:0010953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group E", "equivalent_identifiers": ["MONDO:0010953", "DOID:0111084", "OMIM:600901", "UMLS:C3160739", "NCIT:C125709", "medgen:463628"], "information_content": 92.8}
{"id": "MONDO:0010849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "palmoplantar keratoderma, Bothnian type", "equivalent_identifiers": ["MONDO:0010849", "DOID:0111707", "OMIM:600231", "orphanet:2337", "UMLS:C1838359", "MESH:C536173", "medgen:325011"], "information_content": 100.0}
{"id": "UniProtKB:P84243", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H33_HUMAN Histone H3.3 (sprot)", "equivalent_identifiers": ["UniProtKB:P84243", "PR:P84243", "ENSEMBL:ENSP00000254810", "ENSEMBL:ENSP00000254810.3", "ENSEMBL:ENSP00000355778", "ENSEMBL:ENSP00000355778.1", "ENSEMBL:ENSP00000355780", "ENSEMBL:ENSP00000355780.3", "ENSEMBL:ENSP00000355781", "ENSEMBL:ENSP00000355781.1", "ENSEMBL:ENSP00000465813", "ENSEMBL:ENSP00000465813.1", "ENSEMBL:ENSP00000466020", "ENSEMBL:ENSP00000466020.1", "ENSEMBL:ENSP00000468714", "ENSEMBL:ENSP00000468714.1", "ENSEMBL:ENSP00000499275", "ENSEMBL:ENSP00000499275.1", "ENSEMBL:ENSP00000499385", "ENSEMBL:ENSP00000499385.1", "ENSEMBL:ENSP00000499800", "ENSEMBL:ENSP00000499800.1", "UMLS:C5441588"], "information_content": 73.1}
{"id": "MONDO:0010193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Weaver syndrome", "equivalent_identifiers": ["MONDO:0010193", "DOID:14731", "OMIM:277590", "orphanet:3447", "UMLS:C0220765", "UMLS:C0265210", "MESH:C536687", "MESH:C562443", "MEDDRA:10083271", "NCIT:C125599", "SNOMEDCT:63119004", "medgen:120511", "icd11.foundation:2042913723"], "information_content": 100.0}
{"id": "MONDO:0012455", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kleefstra syndrome", "equivalent_identifiers": ["MONDO:0012455", "DOID:0080597", "OMIM.PS:610253", "orphanet:261494", "UMLS:C4551771", "MEDDRA:10079365", "medgen:1684615", "icd11.foundation:1997337437"], "information_content": 89.4}
{"id": "UniProtKB:Q96LD4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM47 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LD4-1", "PR:Q96LD4-1", "ENSEMBL:ENSP00000254816", "ENSEMBL:ENSP00000254816.1"], "information_content": 100.0}
{"id": "UniProtKB:O15054-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase 6B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15054-1", "PR:O15054-1", "ENSEMBL:ENSP00000254846", "ENSEMBL:ENSP00000254846.5"], "information_content": 100.0}
{"id": "NCBIGene:3000", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GUCY2D", "equivalent_identifiers": ["NCBIGene:3000", "ENSEMBL:ENSG00000132518", "HGNC:4689", "OMIM:600179", "UMLS:C1415364", "UniProtKB:Q02846", "PR:Q02846", "ENSEMBL:ENSP00000254854", "ENSEMBL:ENSP00000254854.4", "UMLS:C1449128"], "information_content": 90.9}
{"id": "MONDO:0001210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enophthalmos", "equivalent_identifiers": ["MONDO:0001210", "DOID:11175", "UMLS:C0014306", "UMLS:C0423224", "MESH:D015841", "MEDDRA:10014853", "MEDDRA:10014857", "MEDDRA:10016013", "MEDDRA:10042497", "NCIT:C79552", "SNOMEDCT:246923005", "SNOMEDCT:80093006", "medgen:473112", "ICD10:H05.4", "ICD9:376.5", "HP:0000490"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUN9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 10 member A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUN9-1", "PR:Q8IUN9-1", "ENSEMBL:ENSP00000254868", "ENSEMBL:ENSP00000254868.4"], "information_content": 100.0}
{"id": "NCBIGene:10247", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RIDA", "equivalent_identifiers": ["NCBIGene:10247", "ENSEMBL:ENSG00000132541", "HGNC:16897", "OMIM:602487", "UMLS:C1537379", "UniProtKB:P52758", "PR:P52758", "ENSEMBL:ENSP00000254878", "ENSEMBL:ENSP00000254878.3", "UMLS:C1453823", "MESH:C490788"], "information_content": 90.9}
{"id": "UniProtKB:O00339-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "matrilin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00339-1", "PR:O00339-1", "ENSEMBL:ENSP00000254898", "ENSEMBL:ENSP00000254898.6", "ENSEMBL:ENSP00000430487", "ENSEMBL:ENSP00000430487.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0E9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain-containing protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0E9-1", "PR:Q9H0E9-1", "ENSEMBL:ENSP00000254900", "ENSEMBL:ENSP00000254900.5"], "information_content": 100.0}
{"id": "UniProtKB:O75616-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTPase Era, mitochondrial isoform HERA-A (human)", "equivalent_identifiers": ["UniProtKB:O75616-1", "PR:O75616-1", "ENSEMBL:ENSP00000254928", "ENSEMBL:ENSP00000254928.5"], "information_content": 100.0}
{"id": "MONDO:0015194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sideroblastic anemia", "equivalent_identifiers": ["MONDO:0015194", "DOID:8955", "orphanet:1047", "UMLS:C0002896", "UMLS:C4551661", "MESH:D000756", "MEDDRA:10002078", "MEDDRA:10002312", "MEDDRA:10040661", "MEDDRA:10040662", "MEDDRA:10040663", "NCIT:C36078", "SNOMEDCT:41841004", "medgen:8067", "ICD10:D64.3", "ICD9:285.0", "HP:0001924"], "information_content": 81.3}
{"id": "UniProtKB:Q9Y221-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "60S ribosome subunit biogenesis protein NIP7 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y221-1", "PR:Q9Y221-1", "ENSEMBL:ENSP00000254940", "ENSEMBL:ENSP00000254940.5"], "information_content": 100.0}
{"id": "UniProtKB:Q15554-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "telomeric repeat-binding factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15554-3", "PR:Q15554-3", "ENSEMBL:ENSP00000254942", "ENSEMBL:ENSP00000254942.3"], "information_content": 100.0}
{"id": "NCBIGene:27183", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VPS4A", "equivalent_identifiers": ["NCBIGene:27183", "ENSEMBL:ENSG00000132612", "HGNC:13488", "OMIM:609982", "UMLS:C1422018", "UniProtKB:Q9UN37", "PR:Q9UN37", "ENSEMBL:ENSP00000254950", "ENSEMBL:ENSP00000254950.11", "UMLS:C1452799", "MESH:C490305"], "information_content": 95.4}
{"id": "MONDO:0008913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac valvular defect, developmental", "equivalent_identifiers": ["MONDO:0008913", "DOID:0080633", "OMIM:212093", "UMLS:C1859330", "UMLS:C5774175", "MESH:C565882", "medgen:1823949"], "information_content": 100.0}
{"id": "UniProtKB:P78504-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein jagged-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P78504-1", "PR:P78504-1", "ENSEMBL:ENSP00000254958", "ENSEMBL:ENSP00000254958.4"], "information_content": 100.0}
{"id": "MONDO:0007537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lateral meningocele syndrome", "equivalent_identifiers": ["MONDO:0007537", "DOID:0111343", "OMIM:130720", "orphanet:2789", "UMLS:C1851710", "MESH:C537878", "medgen:342070"], "information_content": 100.0}
{"id": "NCBIGene:116835", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPA12B", "equivalent_identifiers": ["NCBIGene:116835", "ENSEMBL:ENSG00000132622", "HGNC:16193", "OMIM:610702", "UMLS:C1424070", "UniProtKB:B4DLR4", "UMLS:C1174943", "MESH:C472131", "UniProtKB:B7ZLP2", "UniProtKB:Q5BKZ8", "UniProtKB:Q5JX83", "ENSEMBL:ENSP00000382608", "ENSEMBL:ENSP00000382608.1", "UniProtKB:Q96MM6", "PR:Q96MM6", "ENSEMBL:ENSP00000254963", "ENSEMBL:ENSP00000254963.2"], "information_content": 100.0}
{"id": "UniProtKB:P60880-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptosomal-associated protein 25 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P60880-1", "PR:P60880-1", "ENSEMBL:ENSP00000254976", "ENSEMBL:ENSP00000254976.3", "ENSEMBL:ENSP00000508541", "ENSEMBL:ENSP00000508541.1", "ENSEMBL:ENSP00000508837", "ENSEMBL:ENSP00000508837.1", "ENSEMBL:ENSP00000508939", "ENSEMBL:ENSP00000508939.1", "ENSEMBL:ENSP00000509287", "ENSEMBL:ENSP00000509287.1", "ENSEMBL:ENSP00000509312", "ENSEMBL:ENSP00000509312.1", "ENSEMBL:ENSP00000509759", "ENSEMBL:ENSP00000509759.1", "ENSEMBL:ENSP00000510109", "ENSEMBL:ENSP00000510109.1", "ENSEMBL:ENSP00000510219", "ENSEMBL:ENSP00000510219.1", "ENSEMBL:ENSP00000510558", "ENSEMBL:ENSP00000510558.1", "ENSEMBL:ENSP00000510663", "ENSEMBL:ENSP00000510663.1"], "information_content": 100.0}
{"id": "MONDO:0001447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "detrusor sphincter dyssynergia", "equivalent_identifiers": ["MONDO:0001447", "DOID:12145", "UMLS:C0341747", "MEDDRA:10012550", "SNOMEDCT:236655005", "medgen:574618", "ICD9:596.55", "HP:0025488"], "information_content": 100.0}
{"id": "MONDO:0007753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frey syndrome", "equivalent_identifiers": ["MONDO:0007753", "DOID:11599", "OMIM:144100", "orphanet:662240", "EFO:1000940", "UMLS:C0038994", "MESH:D013547", "MEDDRA:10059249", "SNOMEDCT:238758008", "SNOMEDCT:56046002", "medgen:21041", "HP:0025277"], "information_content": 100.0}
{"id": "NCBIGene:29107", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NXT1", "equivalent_identifiers": ["NCBIGene:29107", "ENSEMBL:ENSG00000132661", "HGNC:15913", "OMIM:605811", "UMLS:C1423828", "UniProtKB:Q9UKK6", "PR:Q9UKK6", "ENSEMBL:ENSP00000254998", "ENSEMBL:ENSP00000254998.2", "UMLS:C1431898", "MESH:C498546"], "information_content": 92.8}
{"id": "MONDO:0005969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "st. Louis encephalitis", "equivalent_identifiers": ["MONDO:0005969", "DOID:10845", "orphanet:83484", "EFO:0007495", "UMLS:C0014060", "MESH:D004674", "MEDDRA:10041896", "MEDDRA:10041898", "SNOMEDCT:417192005", "SNOMEDCT:417607009", "medgen:41773", "icd11.foundation:1306878274", "ICD10:A83.3", "ICD9:062.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WYP3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras and Rab interactor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYP3-1", "PR:Q8WYP3-1", "ENSEMBL:ENSP00000255006", "ENSEMBL:ENSP00000255006.7", "ENSEMBL:ENSP00000498085", "ENSEMBL:ENSP00000498085.1"], "information_content": 100.0}
{"id": "NCBIGene:6754", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSTR4", "equivalent_identifiers": ["NCBIGene:6754", "ENSEMBL:ENSG00000132671", "HGNC:11333", "OMIM:182454", "UMLS:C1335869", "UniProtKB:P31391", "PR:P31391", "ENSEMBL:ENSP00000255008", "ENSEMBL:ENSP00000255008.3", "UMLS:C1568999"], "information_content": 100.0}
{"id": "UniProtKB:P02741-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-reactive protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P02741-1", "PR:P02741-1", "ENSEMBL:ENSP00000255030", "ENSEMBL:ENSP00000255030.5"], "information_content": 100.0}
{"id": "MONDO:0005752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidural abscess", "equivalent_identifiers": ["MONDO:0005752", "DOID:11387", "EFO:0007260", "UMLS:C0270629", "MESH:D020802", "MEDDRA:10015010", "MEDDRA:10015768", "MEDDRA:10061846", "SNOMEDCT:61974008", "medgen:82848"], "information_content": 100.0}
{"id": "MONDO:0003067", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical lymphadenitis", "equivalent_identifiers": ["MONDO:0003067", "DOID:4637", "UMLS:C0149642", "MEDDRA:10001138", "MEDDRA:10008223", "MEDDRA:10025190", "MEDDRA:10025195", "NCIT:C26937", "SNOMEDCT:3502005", "medgen:101763"], "information_content": 95.4}
{"id": "MONDO:0002333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "splenic abscess", "equivalent_identifiers": ["MONDO:0002333", "DOID:2530", "UMLS:C0272412", "MEDDRA:10041643", "NCIT:C35347", "SNOMEDCT:82053000", "medgen:124428", "ICD10:D73.3", "HP:0025059"], "information_content": 92.8}
{"id": "MONDO:0001116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesenteric lymphadenitis", "equivalent_identifiers": ["MONDO:0001116", "DOID:10782", "UMLS:C0025469", "MESH:D008640", "MEDDRA:10027393", "MEDDRA:10029717", "MEDDRA:10088083", "NCIT:C26830", "SNOMEDCT:267548000", "SNOMEDCT:44897000", "medgen:6318", "ICD10:I88.0", "ICD9:289.2"], "information_content": 95.4}
{"id": "MONDO:0015306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Necrobacillosis", "equivalent_identifiers": ["MONDO:0015306", "DOID:11337", "orphanet:137839", "UMLS:C0016879", "UMLS:C0027537", "UMLS:C0343525", "MESH:D005674", "MESH:D057831", "MEDDRA:10017564", "MEDDRA:10028846", "MEDDRA:10054223", "MEDDRA:10065552", "NCIT:C84722", "SNOMEDCT:1231140009", "SNOMEDCT:52542005", "medgen:6541", "ICD9:040.3"], "information_content": 100.0}
{"id": "MONDO:0000939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intracranial abscess", "equivalent_identifiers": ["MONDO:0000939", "DOID:10095", "UMLS:C0021874", "MEDDRA:10022755", "NCIT:C34734", "SNOMEDCT:27614006", "medgen:9529", "icd11.foundation:1128677700", "ICD9:324.0"], "information_content": 92.8}
{"id": "MONDO:0006851", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meconium aspiration syndrome", "equivalent_identifiers": ["MONDO:0006851", "DOID:11049", "orphanet:70588", "EFO:1001037", "UMLS:C0025048", "MESH:D008471", "MEDDRA:10027057", "MEDDRA:10076496", "NCIT:C87093", "SNOMEDCT:206292002", "medgen:6258", "icd11.foundation:872221482", "ICD10:P24.01"], "information_content": 100.0}
{"id": "MONDO:0005280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prostatitis", "equivalent_identifiers": ["MONDO:0005280", "DOID:14654", "EFO:0003830", "UMLS:C0033581", "MESH:D011472", "MEDDRA:10036978", "MEDDRA:10036982", "MEDDRA:10087880", "NCIT:C26866", "SNOMEDCT:9713002", "medgen:10965", "ICD10:N41.9", "ICD9:601.9", "HP:0000024"], "information_content": 85.5}
{"id": "MONDO:0006698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholecystolithiasis", "equivalent_identifiers": ["MONDO:0006698", "DOID:11151", "EFO:1000864", "UMLS:C0947622", "MESH:D041761", "MEDDRA:10006990", "MEDDRA:10006992", "MEDDRA:10017640", "MEDDRA:10017644", "MEDDRA:10042140", "MEDDRA:10049890", "NCIT:C34443", "medgen:215268"], "information_content": 95.4}
{"id": "MONDO:0005753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiglottitis", "equivalent_identifiers": ["MONDO:0005753", "DOID:9398", "EFO:0007261", "UMLS:C0014541", "MESH:D004826", "MEDDRA:10015030", "MEDDRA:10015032", "NCIT:C116007", "SNOMEDCT:80384002", "medgen:4505", "ICD10:J05.1", "ICD10:J05.10", "ICD9:464.3"], "information_content": 95.4}
{"id": "MONDO:0005693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cauda equina syndrome", "equivalent_identifiers": ["MONDO:0005693", "DOID:11577", "EFO:0007196", "UMLS:C0392548", "MESH:D000077684", "MEDDRA:10007821", "MEDDRA:10057324", "MEDDRA:10088488", "NCIT:C35436", "SNOMEDCT:192970008", "medgen:98229", "icd11.foundation:1490265028", "ICD10:G83.4", "ICD9:344.6"], "information_content": 92.8}
{"id": "MONDO:0006983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subclavian steal syndrome", "equivalent_identifiers": ["MONDO:0006983", "DOID:13002", "EFO:1001195", "UMLS:C0038531", "MESH:D013349", "MEDDRA:10042335", "MEDDRA:10050180", "NCIT:C35044", "SNOMEDCT:15258001", "SNOMEDCT:300921000", "medgen:20983", "icd11.foundation:2123391417", "ICD9:435.2", "HP:6000038"], "information_content": 100.0}
{"id": "MONDO:0700081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "newborn respiratory distress syndrome", "equivalent_identifiers": ["MONDO:0700081", "DOID:12716", "EFO:1000644", "UMLS:C0020192", "MESH:D006819", "MEDDRA:10020477", "NCIT:C27560", "SNOMEDCT:46775006", "ICD10:P22.0"], "information_content": 95.4}
{"id": "MONDO:0001858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tietze syndrome", "equivalent_identifiers": ["MONDO:0001858", "DOID:14021", "UMLS:C0040213", "UMLS:C5238797", "MESH:D013991", "MEDDRA:10043851", "MEDDRA:10043852", "MEDDRA:10063529", "MEDDRA:10067349", "MEDDRA:10067358", "NCIT:C168333", "SNOMEDCT:30128009", "medgen:52753", "ICD10:M94.0", "ICD9:733.6"], "information_content": 100.0}
{"id": "MONDO:0006797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertensive retinopathy", "equivalent_identifiers": ["MONDO:0006797", "DOID:11561", "EFO:1000977", "UMLS:C0152132", "MESH:D058437", "MEDDRA:10020839", "MEDDRA:10038926", "NCIT:C3514", "SNOMEDCT:6962006", "medgen:101819", "icd11.foundation:218513628", "ICD10:H35.03", "ICD9:362.11", "HP:0001095"], "information_content": 100.0}
{"id": "MONDO:0005568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Trash foot", "equivalent_identifiers": ["MONDO:0005568", "DOID:1461", "EFO:0005801", "UMLS:C0149649", "UMLS:C0585266", "MESH:D017700", "MEDDRA:10079261", "SNOMEDCT:10690002", "SNOMEDCT:307406004", "medgen:57437", "ICD10:I75", "ICD9:445"], "information_content": 92.8}
{"id": "MONDO:0006659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arteriosclerosis obliterans", "equivalent_identifiers": ["MONDO:0006659", "DOID:5160", "EFO:1000820", "UMLS:C0003851", "MESH:D001162", "MEDDRA:10065418", "SNOMEDCT:361133006", "medgen:13915"], "information_content": 100.0}
{"id": "MONDO:0000750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dental abscess", "equivalent_identifiers": ["MONDO:0000750", "DOID:0060324", "UMLS:C0518988", "MEDDRA:10000278", "MEDDRA:10012314", "MEDDRA:10044016", "MEDDRA:10088408", "NCIT:C35475", "SNOMEDCT:299709002", "medgen:99235", "ICD10:K04.6", "HP:0030757"], "information_content": 90.9}
{"id": "MONDO:0010811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign prostatic hyperplasia", "equivalent_identifiers": ["MONDO:0010811", "DOID:11132", "OMIM:600082", "EFO:0000284", "UMLS:C0005001", "UMLS:C1306869", "UMLS:C1306871", "UMLS:C1704272", "UMLS:C1739363", "UMLS:C2937421", "MESH:D011470", "MEDDRA:10004446", "MEDDRA:10004447", "MEDDRA:10014840", "MEDDRA:10020728", "MEDDRA:10020730", "MEDDRA:10036961", "MEDDRA:10036962", "MEDDRA:10036963", "MEDDRA:10065030", "NCIT:C2897", "SNOMEDCT:266569009", "SNOMEDCT:433234005", "medgen:312369", "HP:0008711"], "information_content": 89.4}
{"id": "MONDO:0850092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "post-cardiac arrest syndrome", "equivalent_identifiers": ["MONDO:0850092", "DOID:0070306", "UMLS:C4285706", "MESH:D000080942", "MEDDRA:10078202", "medgen:1672555"], "information_content": 100.0}
{"id": "MONDO:0006672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "balanitis", "equivalent_identifiers": ["MONDO:0006672", "DOID:13033", "EFO:1000833", "UMLS:C0004690", "MESH:D001446", "MEDDRA:10004073", "MEDDRA:10004076", "MEDDRA:10034338", "NCIT:C26705", "SNOMEDCT:371163003", "SNOMEDCT:44882003", "medgen:14020", "ICD10:N48.1", "HP:0034438"], "information_content": 89.4}
{"id": "MONDO:0001929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ascending cholangitis", "equivalent_identifiers": ["MONDO:0001929", "DOID:14270", "UMLS:C0311273", "MEDDRA:10003444", "NCIT:C35372", "SNOMEDCT:26918003", "medgen:81387"], "information_content": 100.0}
{"id": "MONDO:0003279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular infarct", "equivalent_identifiers": ["MONDO:0003279", "DOID:5104", "UMLS:C0392041", "MEDDRA:10021764", "MEDDRA:10043337", "NCIT:C27617", "SNOMEDCT:33793000", "medgen:95919"], "information_content": 100.0}
{"id": "MONDO:0006899", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pericoronitis", "equivalent_identifiers": ["MONDO:0006899", "DOID:3671", "EFO:1001098", "UMLS:C0031055", "MESH:D010497", "MEDDRA:10034504", "SNOMEDCT:22240003", "medgen:45399", "icd11.foundation:1764886525"], "information_content": 100.0}
{"id": "MONDO:0003069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "suppurative lymphadenitis", "equivalent_identifiers": ["MONDO:0003069", "DOID:4639", "UMLS:C0392051", "MEDDRA:10025194", "MEDDRA:10025207", "MEDDRA:10042587", "NCIT:C27135", "SNOMEDCT:48573006", "medgen:140258", "icd11.foundation:1183198544"], "information_content": 100.0}
{"id": "MONDO:0002286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal artery disease", "equivalent_identifiers": ["MONDO:0002286", "DOID:2388", "UMLS:C0268790", "UMLS:C3640053", "MEDDRA:10038544", "MEDDRA:10038553", "NCIT:C101254", "NCIT:C35338", "SNOMEDCT:16934004", "medgen:768693", "ICD9:593.81"], "information_content": 87.2}
{"id": "MONDO:0001928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "suppurative cholangitis", "equivalent_identifiers": ["MONDO:0001928", "DOID:14269", "UMLS:C0267924", "MEDDRA:10008610", "MEDDRA:10056952", "NCIT:C35336", "SNOMEDCT:69850007", "medgen:82766", "icd11.foundation:32799822", "HP:0030987"], "information_content": 100.0}
{"id": "MONDO:0006908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary apoplexy", "equivalent_identifiers": ["MONDO:0006908", "DOID:1129", "orphanet:95613", "EFO:1001108", "UMLS:C0032001", "MESH:D010899", "MEDDRA:10056447", "NCIT:C26853", "SNOMEDCT:237701005", "medgen:18489", "icd11.foundation:1938573221"], "information_content": 100.0}
{"id": "NCBIGene:60484", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HAPLN2", "equivalent_identifiers": ["NCBIGene:60484", "ENSEMBL:ENSG00000132702", "HGNC:17410", "OMIM:619726", "UMLS:C1424957", "UniProtKB:B7Z1R1", "UniProtKB:Q9GZV7", "PR:Q9GZV7", "ENSEMBL:ENSP00000255039", "ENSEMBL:ENSP00000255039.1", "ENSEMBL:ENSP00000517288", "ENSEMBL:ENSP00000517288.1", "UMLS:C1447785", "MESH:C415863"], "information_content": 100.0}
{"id": "NCBIGene:325", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APCS", "equivalent_identifiers": ["NCBIGene:325", "ENSEMBL:ENSG00000132703", "HGNC:584", "OMIM:104770", "UMLS:C1456795", "UniProtKB:P02743", "PR:P02743", "ENSEMBL:ENSP00000255040", "ENSEMBL:ENSP00000255040.2", "UMLS:C5551435", "UniProtKB:V9HWP0"], "information_content": 83.1}
{"id": "NCBIGene:3508", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGHMBP2", "equivalent_identifiers": ["NCBIGene:3508", "ENSEMBL:ENSG00000132740", "HGNC:5542", "OMIM:600502", "UMLS:C1415994", "UniProtKB:P38935", "PR:P38935", "ENSEMBL:ENSP00000255078", "ENSEMBL:ENSP00000255078.4", "UMLS:C1432270", "MESH:C489892"], "information_content": 90.9}
{"id": "MONDO:0006726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diaphragmatic eventration", "equivalent_identifiers": ["MONDO:0006726", "DOID:10480", "EFO:1000898", "UMLS:C0011981", "MESH:D003965", "NCIT:C98912", "SNOMEDCT:34168003", "medgen:8359", "ICD10:Q79.1", "HP:0009110"], "information_content": 100.0}
{"id": "MONDO:0013969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 11", "equivalent_identifiers": ["MONDO:0013969", "DOID:0111481", "OMIM:614922", "orphanet:324535", "UMLS:C5190991", "SNOMEDCT:783558004", "medgen:1682397"], "information_content": 100.0}
{"id": "NCBIGene:91703", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACY3", "equivalent_identifiers": ["NCBIGene:91703", "ENSEMBL:ENSG00000132744", "HGNC:24104", "OMIM:614413", "UMLS:C1540184", "UniProtKB:E9PRA7", "ENSEMBL:ENSP00000434270", "ENSEMBL:ENSP00000434270.1", "UniProtKB:Q96HD9", "PR:Q96HD9", "ENSEMBL:ENSP00000255082", "ENSEMBL:ENSP00000255082.3"], "information_content": 100.0}
{"id": "MONDO:0010079", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Canavan disease", "equivalent_identifiers": ["MONDO:0010079", "DOID:3613", "OMIM:271900", "orphanet:141", "UMLS:C0206307", "MESH:D017825", "MEDDRA:10067608", "NCIT:C84611", "SNOMEDCT:80544005", "medgen:61565", "icd11.foundation:1576870846"], "information_content": 92.8}
{"id": "UniProtKB:Q9BQC3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQC3-1", "PR:Q9BQC3-1", "ENSEMBL:ENSP00000255108", "ENSEMBL:ENSP00000255108.3"], "information_content": 100.0}
{"id": "MONDO:0031632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair", "equivalent_identifiers": ["MONDO:0031632", "DOID:0070476", "OMIM.PS:616901", "UMLS:C4310801", "SNOMEDCT:1217229007", "medgen:934768"], "information_content": 92.8}
{"id": "MONDO:0014391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to CTPS1 deficiency", "equivalent_identifiers": ["MONDO:0014391", "DOID:0111938", "OMIM:615897", "orphanet:420573", "UMLS:C4014617", "UMLS:C4706524", "SNOMEDCT:763623001", "medgen:863054"], "information_content": 100.0}
{"id": "UniProtKB:P49321-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear autoantigenic sperm protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49321-1", "PR:P49321-1", "ENSEMBL:ENSP00000255120", "ENSEMBL:ENSP00000255120.5"], "information_content": 100.0}
{"id": "UniProtKB:Q4VXU2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyadenylate-binding protein 1-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4VXU2-1", "PR:Q4VXU2-1", "ENSEMBL:ENSP00000255136", "ENSEMBL:ENSP00000255136.3"], "information_content": 100.0}
{"id": "MONDO:0025193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculopharyngodistal myopathy", "equivalent_identifiers": ["MONDO:0025193", "DOID:0081296", "OMIM.PS:164310", "orphanet:98897", "UMLS:C1834014", "MESH:C563508", "SNOMEDCT:763829004", "medgen:320250", "icd11.foundation:1493269618"], "information_content": 89.4}
{"id": "MONDO:0010973", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 5", "equivalent_identifiers": ["MONDO:0010973", "DOID:0110575", "OMIM:600994", "UMLS:C1832932", "MESH:C563410", "medgen:331398"], "information_content": 100.0}
{"id": "NCBIGene:140831", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZSWIM3", "equivalent_identifiers": ["NCBIGene:140831", "ENSEMBL:ENSG00000132801", "HGNC:16157", "OMIM:620336", "UMLS:C1424034", "UniProtKB:Q96MP5", "PR:Q96MP5", "ENSEMBL:ENSP00000255152", "ENSEMBL:ENSP00000255152.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UI17-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dimethylglycine dehydrogenase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UI17-1", "PR:Q9UI17-1", "ENSEMBL:ENSP00000255189", "ENSEMBL:ENSP00000255189.3"], "information_content": 100.0}
{"id": "MONDO:0011610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dimethylglycine dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0011610", "DOID:0081446", "OMIM:605850", "orphanet:243343", "UMLS:C1853892", "MESH:C565278", "SNOMEDCT:719449007", "medgen:343006"], "information_content": 90.9}
{"id": "MONDO:0010008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sarcosinemia", "equivalent_identifiers": ["MONDO:0010008", "DOID:0112307", "OMIM:268900", "orphanet:3129", "UMLS:C0268563", "MESH:C537236", "MEDDRA:10059299", "MEDDRA:10059310", "SNOMEDCT:64852002", "medgen:120651", "icd11.foundation:1901733714", "HP:0010896"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2M3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "S-methylmethionine--homocysteine S-methyltransferase BHMT2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2M3-1", "PR:Q9H2M3-1", "ENSEMBL:ENSP00000255192", "ENSEMBL:ENSP00000255192.3"], "information_content": 100.0}
{"id": "MONDO:0006888", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paraneoplastic polyneuropathy", "equivalent_identifiers": ["MONDO:0006888", "DOID:8681", "EFO:1001085", "UMLS:C0270932", "MESH:D020364", "MEDDRA:10007507", "MEDDRA:10036114", "MEDDRA:10036115", "MEDDRA:10062289", "NCIT:C3981", "SNOMEDCT:21361000119109", "SNOMEDCT:77659000", "medgen:124380", "ICD9:357.3"], "information_content": 95.4}
{"id": "MONDO:0013721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement component 4a deficiency", "equivalent_identifiers": ["MONDO:0013721", "DOID:0060297", "OMIM:614380", "UMLS:C3280642", "MESH:C565167", "medgen:482272"], "information_content": 100.0}
{"id": "UniProtKB:O00203-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-3 complex subunit beta-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00203-1", "PR:O00203-1", "ENSEMBL:ENSP00000255194", "ENSEMBL:ENSP00000255194.7"], "information_content": 100.0}
{"id": "MONDO:0013597", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 14", "equivalent_identifiers": ["MONDO:0013597", "DOID:0111047", "OMIM:614158", "UMLS:C0398635", "MESH:C562866", "SNOMEDCT:234477002", "medgen:98307"], "information_content": 100.0}
{"id": "MONDO:0012354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 8", "equivalent_identifiers": ["MONDO:0012354", "DOID:0060692", "OMIM:609821", "orphanet:36355", "UMLS:C1853278", "UMLS:C4510945", "MESH:C565220", "SNOMEDCT:725291001", "medgen:344008", "ICD10:D69.8"], "information_content": 100.0}
{"id": "MONDO:0009815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 1", "equivalent_identifiers": ["MONDO:0009815", "DOID:0110942", "OMIM:259700", "UMLS:C1850127", "UMLS:C4551971", "MESH:C564915", "NCIT:C167215", "medgen:376708"], "information_content": 100.0}
{"id": "NCBIGene:84327", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBED3", "equivalent_identifiers": ["NCBIGene:84327", "ENSEMBL:ENSG00000132846", "HGNC:20711", "OMIM:615250", "UMLS:C1427088", "UniProtKB:Q96IU2", "PR:Q96IU2", "ENSEMBL:ENSP00000255198", "ENSEMBL:ENSP00000255198.2", "UMLS:C2715448", "MESH:C540253"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2B2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptotagmin-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2B2-1", "PR:Q9H2B2-1", "ENSEMBL:ENSP00000255224", "ENSEMBL:ENSP00000255224.2"], "information_content": 100.0}
{"id": "UniProtKB:Q15849-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "urea transporter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15849-1", "PR:Q15849-1", "ENSEMBL:ENSP00000255226", "ENSEMBL:ENSP00000255226.5", "ENSEMBL:ENSP00000465953", "ENSEMBL:ENSP00000465953.1"], "information_content": 100.0}
{"id": "MONDO:0006019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "yaws", "equivalent_identifiers": ["MONDO:0006019", "DOID:10371", "EFO:0007548", "UMLS:C0043388", "MESH:D015001", "MEDDRA:10048234", "MEDDRA:10048237", "NCIT:C41353", "SNOMEDCT:70647001", "medgen:12186", "icd11.foundation:840525023", "ICD10:A66", "ICD9:102"], "information_content": 89.4}
{"id": "NCBIGene:56923", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NMUR2", "equivalent_identifiers": ["NCBIGene:56923", "ENSEMBL:ENSG00000132911", "HGNC:16454", "OMIM:605108", "UMLS:C1424293", "UniProtKB:Q9GZQ4", "PR:Q9GZQ4", "ENSEMBL:ENSP00000255262", "ENSEMBL:ENSP00000255262.4"], "information_content": 100.0}
{"id": "NCBIGene:5145", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDE6A", "equivalent_identifiers": ["NCBIGene:5145", "ENSEMBL:ENSG00000132915", "HGNC:8785", "OMIM:180071", "UMLS:C1418425", "UniProtKB:F1T0K3", "ENSEMBL:ENSP00000478060", "ENSEMBL:ENSP00000478060.1", "UniProtKB:P16499", "PR:P16499", "ENSEMBL:ENSP00000255266", "ENSEMBL:ENSP00000255266.5", "UMLS:C1439032", "MESH:C410522"], "information_content": 92.8}
{"id": "UniProtKB:Q5W0Q7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SUMO-specific isopeptidase USPL1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5W0Q7-1", "PR:Q5W0Q7-1", "ENSEMBL:ENSP00000255304", "ENSEMBL:ENSP00000255304.4"], "information_content": 100.0}
{"id": "NCBIGene:64328", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XPO4", "equivalent_identifiers": ["NCBIGene:64328", "ENSEMBL:ENSG00000132953", "HGNC:17796", "OMIM:611449", "UMLS:C1425083", "UniProtKB:Q0VG75", "UniProtKB:Q9C0E2", "PR:Q9C0E2", "ENSEMBL:ENSP00000255305", "ENSEMBL:ENSP00000255305.6"], "information_content": 92.8}
{"id": "UniProtKB:Q9BXT8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RING finger protein 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXT8-3", "PR:Q9BXT8-3", "ENSEMBL:ENSP00000255324", "ENSEMBL:ENSP00000255324.5"], "information_content": 100.0}
{"id": "NCBIGene:1131", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHRM3", "equivalent_identifiers": ["NCBIGene:1131", "ENSEMBL:ENSG00000133019", "HGNC:1952", "OMIM:118494", "UMLS:C1332759", "UniProtKB:P20309", "PR:P20309", "ENSEMBL:ENSP00000255380", "ENSEMBL:ENSP00000255380.4", "ENSEMBL:ENSP00000482377", "ENSEMBL:ENSP00000482377.1", "ENSEMBL:ENSP00000502013", "ENSEMBL:ENSP00000502013.1", "ENSEMBL:ENSP00000502349", "ENSEMBL:ENSP00000502349.1", "ENSEMBL:ENSP00000502667", "ENSEMBL:ENSP00000502667.1", "UMLS:C4045009", "MESH:C000595896"], "information_content": 100.0}
{"id": "MONDO:0006678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bladder stones", "equivalent_identifiers": ["MONDO:0006678", "DOID:11355", "EFO:1000839", "UMLS:C0005683", "MESH:D001744", "MEDDRA:10005001", "MEDDRA:10006987", "MEDDRA:10007029", "MEDDRA:10042141", "SNOMEDCT:70650003", "medgen:14149", "HP:0010474"], "information_content": 95.4}
{"id": "NCBIGene:4622", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYH4", "equivalent_identifiers": ["NCBIGene:4622", "ENSEMBL:ENSG00000264424", "HGNC:7574", "OMIM:160742", "UMLS:C1417539", "UniProtKB:Q9Y623", "PR:Q9Y623", "ENSEMBL:ENSP00000255381", "ENSEMBL:ENSP00000255381.2"], "information_content": 92.8}
{"id": "UniProtKB:Q9UBM1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylethanolamine N-methyltransferase isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBM1-2", "PR:Q9UBM1-2", "ENSEMBL:ENSP00000255389", "ENSEMBL:ENSP00000255389.5"], "information_content": 100.0}
{"id": "NCBIGene:6341", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCO1", "equivalent_identifiers": ["NCBIGene:6341", "ENSEMBL:ENSG00000133028", "HGNC:10603", "OMIM:603644", "UMLS:C1419872", "UniProtKB:O75880", "PR:O75880", "ENSEMBL:ENSP00000255390", "ENSEMBL:ENSP00000255390.5", "UMLS:C1454697", "MESH:C489345"], "information_content": 95.4}
{"id": "NCBIGene:1116", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHI3L1", "equivalent_identifiers": ["NCBIGene:1116", "ENSEMBL:ENSG00000133048", "HGNC:1932", "OMIM:601525", "UMLS:C1413387", "UniProtKB:P36222", "PR:P36222", "ENSEMBL:ENSP00000255409", "ENSEMBL:ENSP00000255409.3", "UMLS:C0528649", "MESH:C084533"], "information_content": 86.3}
{"id": "NCBIGene:4608", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYBPH", "equivalent_identifiers": ["NCBIGene:4608", "ENSEMBL:ENSG00000133055", "HGNC:7552", "OMIM:160795", "UMLS:C1417524", "UniProtKB:Q13203", "PR:Q13203", "ENSEMBL:ENSP00000255416", "ENSEMBL:ENSP00000255416.4", "UMLS:C1435733", "MESH:C484119"], "information_content": 100.0}
{"id": "UniProtKB:P78396-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-A1 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:P78396-3", "PR:P78396-3", "ENSEMBL:ENSP00000255465", "ENSEMBL:ENSP00000255465.5", "ENSEMBL:ENSP00000400666", "ENSEMBL:ENSP00000400666.1", "ENSEMBL:ENSP00000486017", "ENSEMBL:ENSP00000486017.2", "ENSEMBL:ENSP00000486482", "ENSEMBL:ENSP00000486482.1"], "information_content": 100.0}
{"id": "NCBIGene:5994", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RFXAP", "equivalent_identifiers": ["NCBIGene:5994", "ENSEMBL:ENSG00000133111", "HGNC:9988", "OMIM:601861", "UMLS:C1419365", "UniProtKB:O00287", "PR:O00287", "ENSEMBL:ENSP00000255476", "ENSEMBL:ENSP00000255476.3", "UMLS:C1439168", "MESH:C413004"], "information_content": 100.0}
{"id": "UniProtKB:Q8TEB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF128 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEB7-1", "PR:Q8TEB7-1", "ENSEMBL:ENSP00000255499", "ENSEMBL:ENSP00000255499.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86Y97-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase KMT5C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86Y97-1", "PR:Q86Y97-1", "ENSEMBL:ENSP00000255613", "ENSEMBL:ENSP00000255613.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZL4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Hsp70-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZL4-1", "PR:Q9NZL4-1", "ENSEMBL:ENSP00000255631", "ENSEMBL:ENSP00000255631.4", "ENSEMBL:ENSP00000398244", "ENSEMBL:ENSP00000398244.1", "ENSEMBL:ENSP00000467574", "ENSEMBL:ENSP00000467574.1"], "information_content": 100.0}
{"id": "NCBIGene:28992", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MACROD1", "equivalent_identifiers": ["NCBIGene:28992", "ENSEMBL:ENSG00000133315", "HGNC:29598", "OMIM:610400", "UMLS:C1835858", "UniProtKB:A0A6Q8PH91", "ENSEMBL:ENSP00000502549", "ENSEMBL:ENSP00000502549.1", "UniProtKB:Q9BQ69", "PR:Q9BQ69", "ENSEMBL:ENSP00000255681", "ENSEMBL:ENSP00000255681.6", "UMLS:C1311236", "MESH:C476832"], "information_content": 100.0}
{"id": "UniProtKB:Q9UL19-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipase A and acyltransferase 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UL19-1", "PR:Q9UL19-1", "ENSEMBL:ENSP00000255688", "ENSEMBL:ENSP00000255688.3", "ENSEMBL:ENSP00000520746", "ENSEMBL:ENSP00000520746.1"], "information_content": 100.0}
{"id": "MONDO:0008262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poland syndrome", "equivalent_identifiers": ["MONDO:0008262", "DOID:12961", "OMIM:173800", "orphanet:2911", "UMLS:C0032357", "UMLS:C1868156", "MESH:C566793", "MESH:D011045", "MEDDRA:10036006", "MEDDRA:10036007", "MEDDRA:10042835", "NCIT:C85017", "SNOMEDCT:38371006", "medgen:10822", "icd11.foundation:1364451323", "ICD10:Q79.8"], "information_content": 100.0}
{"id": "NCBIGene:54979", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLAAT2", "equivalent_identifiers": ["NCBIGene:54979", "ENSEMBL:ENSG00000133328", "HGNC:17824", "OMIM:613866", "UMLS:C1425106", "UniProtKB:Q9NWW9", "PR:Q9NWW9", "ENSEMBL:ENSP00000255695", "ENSEMBL:ENSP00000255695.1", "UMLS:C2603636", "MESH:C530743"], "information_content": 100.0}
{"id": "NCBIGene:84246", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MED10", "equivalent_identifiers": ["NCBIGene:84246", "ENSEMBL:ENSG00000133398", "HGNC:28760", "OMIM:612382", "UMLS:C1825959", "UniProtKB:Q9BTT4", "PR:Q9BTT4", "ENSEMBL:ENSP00000255764", "ENSEMBL:ENSP00000255764.3", "ENSEMBL:ENSP00000517281", "ENSEMBL:ENSP00000517281.1", "UMLS:C2714025", "MESH:C538711"], "information_content": 92.8}
{"id": "MONDO:0017612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "junctional epidermolysis bullosa", "equivalent_identifiers": ["MONDO:0017612", "DOID:3209", "OMIM.PS:226650", "orphanet:305", "UMLS:C0079301", "MESH:D016109", "MEDDRA:10087384", "NCIT:C90598", "SNOMEDCT:399971009", "SNOMEDCT:79855003", "medgen:86898", "icd11.foundation:1501260457"], "information_content": 80.9}
{"id": "NCBIGene:79879", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC134", "equivalent_identifiers": ["NCBIGene:79879", "ENSEMBL:ENSG00000100147", "HGNC:26185", "OMIM:618788", "UMLS:C1824660", "UniProtKB:B0QY51", "ENSEMBL:ENSP00000385803", "ENSEMBL:ENSP00000385803.3", "UMLS:C3501059", "MESH:C576232", "UniProtKB:B4DRL0", "UniProtKB:Q9H6E4", "PR:Q9H6E4", "ENSEMBL:ENSP00000255784", "ENSEMBL:ENSP00000255784.5"], "information_content": 95.4}
{"id": "UniProtKB:Q9UDX3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SEC14-like protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UDX3-1", "PR:Q9UDX3-1", "ENSEMBL:ENSP00000255858", "ENSEMBL:ENSP00000255858.7"], "information_content": 100.0}
{"id": "MONDO:0009745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 5", "equivalent_identifiers": ["MONDO:0009745", "DOID:0110728", "OMIM:256731", "orphanet:228360", "UMLS:C1850442", "MESH:C575534", "NCIT:C192090", "medgen:376792"], "information_content": 100.0}
{"id": "MONDO:0032835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia, nishimura type", "equivalent_identifiers": ["MONDO:0032835", "DOID:0112288", "OMIM:618618", "UMLS:C4305147", "medgen:930816", "icd11.foundation:523290419"], "information_content": 100.0}
{"id": "UniProtKB:P42356-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 4-kinase alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P42356-1", "PR:P42356-1", "ENSEMBL:ENSP00000255882", "ENSEMBL:ENSP00000255882.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHC7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase makorin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHC7-1", "PR:Q9UHC7-1", "ENSEMBL:ENSP00000255977", "ENSEMBL:ENSP00000255977.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9P1U1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin-related protein 3B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P1U1-1", "PR:Q9P1U1-1", "ENSEMBL:ENSP00000256001", "ENSEMBL:ENSP00000256001.8"], "information_content": 100.0}
{"id": "MONDO:0010551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease X-linked recessive 3", "equivalent_identifiers": ["MONDO:0010551", "DOID:0110211", "OMIM:302802", "orphanet:101077", "UMLS:C1844865", "MESH:C535303", "SNOMEDCT:763458005", "medgen:375530"], "information_content": 100.0}
{"id": "NCBIGene:4922", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NTS", "equivalent_identifiers": ["NCBIGene:4922", "ENSEMBL:ENSG00000133636", "HGNC:8038", "OMIM:162650", "UMLS:C1417869", "UniProtKB:P30990", "PR:P30990", "ENSEMBL:ENSP00000256010", "ENSEMBL:ENSP00000256010.5", "UMLS:C4283741", "UMLS:C4283901", "UMLS:C4285651", "UniProtKB:Q6FH20"], "information_content": 100.0}
{"id": "UniProtKB:P01116-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTPase KRas isoform 2A (human)", "equivalent_identifiers": ["UniProtKB:P01116-1", "PR:P01116-1", "ENSEMBL:ENSP00000256078", "ENSEMBL:ENSP00000256078.5"], "information_content": 95.4}
{"id": "MONDO:0005898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paronychia", "equivalent_identifiers": ["MONDO:0005898", "DOID:13117", "EFO:0007421", "UMLS:C0030578", "MESH:D010304", "MEDDRA:10034016", "MEDDRA:10064088", "NCIT:C79702", "SNOMEDCT:71906005", "medgen:45334", "ICD10:L03.0", "HP:0001818"], "information_content": 95.4}
{"id": "MONDO:0000503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung adenocarcinoma in situ", "equivalent_identifiers": ["MONDO:0000503", "DOID:0050870", "UMLS:C4521520", "NCIT:C136486", "medgen:1620128"], "information_content": 92.8}
{"id": "UniProtKB:O15397-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "importin-8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15397-1", "PR:O15397-1", "ENSEMBL:ENSP00000256079", "ENSEMBL:ENSP00000256079.4"], "information_content": 100.0}
{"id": "NCBIGene:5375", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PMP2", "equivalent_identifiers": ["NCBIGene:5375", "ENSEMBL:ENSG00000147588", "HGNC:9117", "OMIM:170715", "UMLS:C1418676", "UniProtKB:E5RH45", "ENSEMBL:ENSP00000429917", "ENSEMBL:ENSP00000429917.1", "UniProtKB:P02689", "PR:P02689", "ENSEMBL:ENSP00000256103", "ENSEMBL:ENSP00000256103.2", "UMLS:C3178426", "MESH:C560555"], "information_content": 95.4}
{"id": "MONDO:0001191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hirudiniasis", "equivalent_identifiers": ["MONDO:0001191", "DOID:11079", "UMLS:C0019575", "MEDDRA:10020113", "SNOMEDCT:64351000", "medgen:507813", "ICD10:B88.3", "ICD9:134.2"], "information_content": 92.8}
{"id": "NCBIGene:2167", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FABP4", "equivalent_identifiers": ["NCBIGene:2167", "ENSEMBL:ENSG00000170323", "HGNC:3559", "OMIM:600434", "UMLS:C1333527", "UniProtKB:E7DVW4", "UniProtKB:P15090", "PR:P15090", "ENSEMBL:ENSP00000256104", "ENSEMBL:ENSP00000256104.4", "UMLS:C1312689", "MESH:C493410"], "information_content": 88.2}
{"id": "NCBIGene:29080", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC59", "equivalent_identifiers": ["NCBIGene:29080", "ENSEMBL:ENSG00000133773", "HGNC:25005", "OMIM:619280", "UMLS:C1824584", "UniProtKB:Q9P031", "PR:Q9P031", "ENSEMBL:ENSP00000256151", "ENSEMBL:ENSP00000256151.7", "UMLS:C1722634", "MESH:C511144"], "information_content": 100.0}
{"id": "MONDO:0002388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intracystic papillary adenoma", "equivalent_identifiers": ["MONDO:0002388", "DOID:2682", "UMLS:C0334374", "SNOMEDCT:47488001", "medgen:87229"], "information_content": 100.0}
{"id": "NCBIGene:10894", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LYVE1", "equivalent_identifiers": ["NCBIGene:10894", "ENSEMBL:ENSG00000133800", "HGNC:14687", "OMIM:605702", "UMLS:C1422841", "UniProtKB:B2R672", "UMLS:C0767654", "MESH:C119248", "UniProtKB:Q9Y5Y7", "PR:Q9Y5Y7", "ENSEMBL:ENSP00000256178", "ENSEMBL:ENSP00000256178.3", "UMLS:C3273329"], "information_content": 90.9}
{"id": "MONDO:0015408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse lymphatic malformation", "equivalent_identifiers": ["MONDO:0015408", "DOID:0081031", "orphanet:141209", "UMLS:C3839921", "SNOMEDCT:703298001", "medgen:825766"], "information_content": 100.0}
{"id": "MONDO:0007922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphedema-distichiasis syndrome", "equivalent_identifiers": ["MONDO:0007922", "DOID:0111509", "OMIM:153400", "orphanet:33001", "UMLS:C0265345", "UMLS:C2675066", "MESH:C537710", "MESH:C567188", "NCIT:C128191", "SNOMEDCT:8634009", "medgen:75566"], "information_content": 100.0}
{"id": "UniProtKB:Q86WG5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myotubularin-related protein 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WG5-1", "PR:Q86WG5-1", "ENSEMBL:ENSP00000256190", "ENSEMBL:ENSP00000256190.8"], "information_content": 100.0}
{"id": "UniProtKB:O94851-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "[F-actin]-monooxygenase MICAL2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94851-1", "PR:O94851-1", "ENSEMBL:ENSP00000256194", "ENSEMBL:ENSP00000256194.4", "ENSEMBL:ENSP00000507067", "ENSEMBL:ENSP00000507067.1"], "information_content": 100.0}
{"id": "UniProtKB:P62070-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein R-Ras2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62070-1", "PR:P62070-1", "ENSEMBL:ENSP00000256196", "ENSEMBL:ENSP00000256196.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96BY9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "store-operated calcium entry-associated regulatory factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BY9-1", "PR:Q96BY9-1", "ENSEMBL:ENSP00000256255", "ENSEMBL:ENSP00000256255.6"], "information_content": 100.0}
{"id": "MONDO:0013008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to STIM1 deficiency", "equivalent_identifiers": ["MONDO:0013008", "DOID:0111970", "OMIM:612783", "orphanet:317430", "UMLS:C2748557", "MESH:C557827", "medgen:440575", "icd11.foundation:8644198"], "information_content": 100.0}
{"id": "UniProtKB:Q9BV47-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein phosphatase 26 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BV47-1", "PR:Q9BV47-1", "ENSEMBL:ENSP00000256261", "ENSEMBL:ENSP00000256261.4", "ENSEMBL:ENSP00000429176", "ENSEMBL:ENSP00000429176.1"], "information_content": 100.0}
{"id": "NCBIGene:11161", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERG28", "equivalent_identifiers": ["NCBIGene:11161", "ENSEMBL:ENSG00000133935", "HGNC:1187", "OMIM:604576", "UMLS:C1412884", "UniProtKB:Q6FII3", "UMLS:C0909403", "MESH:C121701", "UniProtKB:Q86TW5", "UniProtKB:Q9UKR5", "PR:Q9UKR5", "ENSEMBL:ENSP00000256319", "ENSEMBL:ENSP00000256319.6"], "information_content": 95.4}
{"id": "MONDO:0010498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MEND syndrome", "equivalent_identifiers": ["MONDO:0010498", "DOID:0111865", "OMIM:300960", "orphanet:401973", "UMLS:C4085243", "medgen:905986"], "information_content": 100.0}
{"id": "MONDO:0001386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "visual epilepsy", "equivalent_identifiers": ["MONDO:0001386", "DOID:11832", "UMLS:C0270824", "MESH:D012640", "NCIT:C3980", "SNOMEDCT:39194005", "medgen:75723"], "information_content": 92.8}
{"id": "MONDO:0012539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 6", "equivalent_identifiers": ["MONDO:0012539", "DOID:0111001", "OMIM:610688", "UMLS:C1853153", "MESH:C537689", "medgen:342805"], "information_content": 100.0}
{"id": "MONDO:0013745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 14", "equivalent_identifiers": ["MONDO:0013745", "DOID:0110983", "OMIM:614424", "UMLS:C3280766", "medgen:482396"], "information_content": 100.0}
{"id": "MONDO:0011296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 2", "equivalent_identifiers": ["MONDO:0011296", "DOID:0070116", "OMIM:603194", "UMLS:C1864148", "MESH:C536131", "medgen:351059"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2D8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein unc-79 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2D8-2", "PR:Q9P2D8-2", "ENSEMBL:ENSP00000256339", "ENSEMBL:ENSP00000256339.4", "ENSEMBL:ENSP00000479521", "ENSEMBL:ENSP00000479521.1", "ENSEMBL:ENSP00000480937", "ENSEMBL:ENSP00000480937.1", "ENSEMBL:ENSP00000485969", "ENSEMBL:ENSP00000485969.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H7T0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cation channel sperm-associated auxiliary subunit beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H7T0-1", "PR:Q9H7T0-1", "ENSEMBL:ENSP00000256343", "ENSEMBL:ENSP00000256343.3", "ENSEMBL:ENSP00000478546", "ENSEMBL:ENSP00000478546.1"], "information_content": 100.0}
{"id": "NCBIGene:55237", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VRTN", "equivalent_identifiers": ["NCBIGene:55237", "ENSEMBL:ENSG00000133980", "HGNC:20223", "OMIM:620468", "UMLS:C1426787", "UniProtKB:Q9H8Y1", "PR:Q9H8Y1", "ENSEMBL:ENSP00000256362", "ENSEMBL:ENSP00000256362.4"], "information_content": 100.0}
{"id": "NCBIGene:55333", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYNJ2BP", "equivalent_identifiers": ["NCBIGene:55333", "ENSEMBL:ENSG00000213463", "HGNC:18955", "OMIM:609411", "UMLS:C1425923", "UniProtKB:P57105", "PR:P57105", "ENSEMBL:ENSP00000256366", "ENSEMBL:ENSP00000256366.4", "UMLS:C1434843", "MESH:C486752"], "information_content": 92.8}
{"id": "MONDO:0032870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with short stature and behavioral abnormalities", "equivalent_identifiers": ["MONDO:0032870", "DOID:0111674", "OMIM:618687", "EFO:0010652", "UMLS:C5231462", "medgen:1684812"], "information_content": 100.0}
{"id": "MONDO:0003937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylitis", "equivalent_identifiers": ["MONDO:0003937", "DOID:6590", "UMLS:C0029644", "UMLS:C0038012", "MESH:D013166", "MEDDRA:10041673", "MEDDRA:10045966", "MEDDRA:10061371", "SNOMEDCT:399096009", "SNOMEDCT:84172003", "medgen:11560", "ICD10:M46", "ICD9:720.8", "HP:0033631"], "information_content": 88.2}
{"id": "NCBIGene:1965", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF2S1", "equivalent_identifiers": ["NCBIGene:1965", "ENSEMBL:ENSG00000134001", "HGNC:3265", "OMIM:603907", "UMLS:C1414334", "UniProtKB:P05198", "PR:P05198", "ENSEMBL:ENSP00000256383", "ENSEMBL:ENSP00000256383.4", "ENSEMBL:ENSP00000425299", "ENSEMBL:ENSP00000425299.1", "UMLS:C3541887", "UMLS:C5433771", "MESH:C000709168", "UniProtKB:Q53XC0"], "information_content": 88.2}
{"id": "UniProtKB:Q9H9T3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "elongator complex protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9T3-1", "PR:Q9H9T3-1", "ENSEMBL:ENSP00000256398", "ENSEMBL:ENSP00000256398.8"], "information_content": 100.0}
{"id": "NCBIGene:157310", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PEBP4", "equivalent_identifiers": ["NCBIGene:157310", "ENSEMBL:ENSG00000134020", "HGNC:28319", "OMIM:612473", "UMLS:C2675903", "UniProtKB:Q96S96", "PR:Q96S96", "ENSEMBL:ENSP00000256404", "ENSEMBL:ENSP00000256404.6", "UMLS:C1869749", "MESH:C518018"], "information_content": 100.0}
{"id": "UniProtKB:O15204-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADAM DEC1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15204-1", "PR:O15204-1", "ENSEMBL:ENSP00000256412", "ENSEMBL:ENSP00000256412.4"], "information_content": 100.0}
{"id": "MONDO:0012083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 28", "equivalent_identifiers": ["MONDO:0012083", "DOID:0110557", "OMIM:608641", "UMLS:C1837640", "MESH:C563890", "medgen:324846"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBB5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methyl-CpG-binding domain protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBB5-1", "PR:Q9UBB5-1", "ENSEMBL:ENSP00000256429", "ENSEMBL:ENSP00000256429.3"], "information_content": 100.0}
{"id": "NCBIGene:51124", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IER3IP1", "equivalent_identifiers": ["NCBIGene:51124", "ENSEMBL:ENSG00000134049", "HGNC:18550", "OMIM:609382", "UMLS:C1537396", "UniProtKB:Q9Y5U9", "PR:Q9Y5U9", "ENSEMBL:ENSP00000256433", "ENSEMBL:ENSP00000256433.3", "UMLS:C1527836", "MESH:C492451"], "information_content": 95.4}
{"id": "MONDO:0001700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megaloblastic anemia", "equivalent_identifiers": ["MONDO:0001700", "DOID:13382", "UMLS:C0002888", "MESH:D000749", "MEDDRA:10002065", "MEDDRA:10002298", "MEDDRA:10027128", "MEDDRA:10027129", "MEDDRA:10074044", "NCIT:C34382", "SNOMEDCT:53165003", "medgen:1527", "ICD10:D53.1", "HP:0001889"], "information_content": 83.6}
{"id": "NCBIGene:92259", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KGD4", "equivalent_identifiers": ["NCBIGene:92259", "ENSEMBL:ENSG00000134056", "HGNC:16631", "OMIM:611996", "UMLS:C1424451", "UniProtKB:P82909", "PR:P82909", "ENSEMBL:ENSP00000256441", "ENSEMBL:ENSP00000256441.4", "ENSEMBL:ENSP00000482331", "ENSEMBL:ENSP00000482331.1"], "information_content": 95.4}
{"id": "UniProtKB:P14635-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G2/mitotic-specific cyclin-B1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P14635-1", "PR:P14635-1", "ENSEMBL:ENSP00000256442", "ENSEMBL:ENSP00000256442.5"], "information_content": 100.0}
{"id": "NCBIGene:1022", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDK7", "equivalent_identifiers": ["NCBIGene:1022", "ENSEMBL:ENSG00000134058", "HGNC:1778", "OMIM:601955", "UMLS:C1413288", "UniProtKB:A0A0S2Z3F9", "UniProtKB:D6R9G1", "ENSEMBL:ENSP00000422121", "ENSEMBL:ENSP00000422121.1", "ENSEMBL:ENSP00000478687", "ENSEMBL:ENSP00000478687.1", "UniProtKB:D6RFL0", "ENSEMBL:ENSP00000426561", "ENSEMBL:ENSP00000426561.1", "ENSEMBL:ENSP00000479440", "ENSEMBL:ENSP00000479440.1", "UniProtKB:P50613", "PR:P50613", "ENSEMBL:ENSP00000256443", "ENSEMBL:ENSP00000256443.3", "ENSEMBL:ENSP00000479116", "ENSEMBL:ENSP00000479116.1", "UMLS:C0255652", "MESH:C000722416"], "information_content": 88.2}
{"id": "NCBIGene:4064", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD180", "equivalent_identifiers": ["NCBIGene:4064", "ENSEMBL:ENSG00000134061", "HGNC:6726", "OMIM:602226", "UMLS:C1824676", "UniProtKB:Q99467", "PR:Q99467", "ENSEMBL:ENSP00000256447", "ENSEMBL:ENSP00000256447.4", "UMLS:C1122354", "MESH:C092722"], "information_content": 90.9}
{"id": "MONDO:0006887", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parametritis", "equivalent_identifiers": ["MONDO:0006887", "DOID:1260", "EFO:1001084", "UMLS:C0030455", "MESH:D010249", "MEDDRA:10033847", "MEDDRA:10068899", "SNOMEDCT:280483007", "medgen:18295"], "information_content": 100.0}
{"id": "NCBIGene:3656", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IRAK2", "equivalent_identifiers": ["NCBIGene:3656", "ENSEMBL:ENSG00000134070", "HGNC:6113", "OMIM:603304", "UMLS:C1334135", "UniProtKB:O43187", "PR:O43187", "ENSEMBL:ENSP00000256458", "ENSEMBL:ENSP00000256458.4", "UMLS:C5441776"], "information_content": 89.4}
{"id": "NCBIGene:8536", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAMK1", "equivalent_identifiers": ["NCBIGene:8536", "ENSEMBL:ENSG00000134072", "HGNC:1459", "OMIM:604998", "UMLS:C1413098", "UniProtKB:B0YIY3", "UniProtKB:Q14012", "PR:Q14012", "ENSEMBL:ENSP00000256460", "ENSEMBL:ENSP00000256460.3", "UMLS:C1871221", "MESH:C517596"], "information_content": 90.9}
{"id": "UniProtKB:P40337-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "von Hippel-Lindau disease tumor suppressor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P40337-1", "PR:P40337-1", "ENSEMBL:ENSP00000256474", "ENSEMBL:ENSP00000256474.3"], "information_content": 100.0}
{"id": "NCBIGene:8553", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BHLHE40", "equivalent_identifiers": ["NCBIGene:8553", "ENSEMBL:ENSG00000134107", "HGNC:1046", "OMIM:604256", "UMLS:C1412793", "UniProtKB:O14503", "PR:O14503", "ENSEMBL:ENSP00000256495", "ENSEMBL:ENSP00000256495.3", "UMLS:C0665433", "MESH:C107989", "UniProtKB:Q6IB83"], "information_content": 92.8}
{"id": "UniProtKB:Q92611-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ER degradation-enhancing alpha-mannosidase-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92611-1", "PR:Q92611-1", "ENSEMBL:ENSP00000256497", "ENSEMBL:ENSP00000256497.4"], "information_content": 100.0}
{"id": "UniProtKB:O00533-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neural cell adhesion molecule L1-like protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O00533-2", "PR:O00533-2", "ENSEMBL:ENSP00000256509", "ENSEMBL:ENSP00000256509.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7L8W6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diphthine--ammonia ligase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L8W6-1", "PR:Q7L8W6-1", "ENSEMBL:ENSP00000256538", "ENSEMBL:ENSP00000256538.4"], "information_content": 100.0}
{"id": "MONDO:0011445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 11", "equivalent_identifiers": ["MONDO:0011445", "DOID:0110764", "OMIM:604360", "orphanet:2822", "UMLS:C1858479", "UMLS:C2931821", "MESH:C537483", "MESH:C538335", "NCIT:C148317", "SNOMEDCT:715491000", "medgen:388073"], "information_content": 100.0}
{"id": "NCBIGene:79768", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KATNBL1", "equivalent_identifiers": ["NCBIGene:79768", "ENSEMBL:ENSG00000134152", "HGNC:26199", "OMIM:616235", "UMLS:C1539057", "UniProtKB:Q9H079", "PR:Q9H079", "ENSEMBL:ENSP00000256544", "ENSEMBL:ENSP00000256544.3", "UMLS:C4507669", "MESH:C000620625"], "information_content": 100.0}
{"id": "MONDO:0003359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myxoid leiomyosarcoma", "equivalent_identifiers": ["MONDO:0003359", "DOID:5268", "UMLS:C0205816", "NCIT:C3701", "SNOMEDCT:16090008", "medgen:104725"], "information_content": 95.4}
{"id": "MONDO:0003356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epithelioid leiomyosarcoma", "equivalent_identifiers": ["MONDO:0003356", "DOID:5264", "UMLS:C0205815", "NCIT:C3700", "SNOMEDCT:42392001", "medgen:61454"], "information_content": 95.4}
{"id": "NCBIGene:56851", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EMC7", "equivalent_identifiers": ["NCBIGene:56851", "ENSEMBL:ENSG00000134153", "HGNC:24301", "OMIM:620631", "UMLS:C1539052", "UniProtKB:Q9NPA0", "PR:Q9NPA0", "ENSEMBL:ENSP00000256545", "ENSEMBL:ENSP00000256545.4"], "information_content": 100.0}
{"id": "MONDO:0002805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hidradenoma", "equivalent_identifiers": ["MONDO:0002805", "DOID:3896", "UMLS:C5848251", "NCIT:C7563", "medgen:1851798"], "information_content": 86.3}
{"id": "MONDO:0006738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Poroma", "equivalent_identifiers": ["MONDO:0006738", "DOID:5442", "EFO:1000912", "EFO:1001826", "UMLS:C0206671", "UMLS:C2717981", "UMLS:C2718092", "MESH:D018250", "MESH:D057091", "NCIT:C27273", "SNOMEDCT:400099008", "SNOMEDCT:81143000", "medgen:104915", "HP:0031405"], "information_content": 85.5}
{"id": "UniProtKB:P01222-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thyrotropin subunit beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P01222-1", "PR:P01222-1", "ENSEMBL:ENSP00000256592", "ENSEMBL:ENSP00000256592.1"], "information_content": 100.0}
{"id": "NCBIGene:2949", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSTM5", "equivalent_identifiers": ["NCBIGene:2949", "ENSEMBL:ENSG00000134201", "HGNC:4637", "OMIM:138385", "UMLS:C1415338", "UniProtKB:P46439", "PR:P46439", "ENSEMBL:ENSP00000256593", "ENSEMBL:ENSP00000256593.3", "UMLS:C2000595", "MESH:C524366", "UniProtKB:Q5T8R1", "ENSEMBL:ENSP00000358827", "ENSEMBL:ENSP00000358827.5", "UniProtKB:Q5T8R2"], "information_content": 95.4}
{"id": "MONDO:0007523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, hypermobility type", "equivalent_identifiers": ["MONDO:0007523", "DOID:14757", "OMIM:130020", "orphanet:285", "UMLS:C0268337", "MESH:C536196", "MEDDRA:10055058", "NCIT:C125698", "SNOMEDCT:30652003", "medgen:75670", "ICD10:Q79.62"], "information_content": 100.0}
{"id": "MONDO:0005085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pterygium", "equivalent_identifiers": ["MONDO:0005085", "DOID:0002116", "EFO:0000678", "UMLS:C0033999", "MESH:D011625", "NCIT:C133744", "SNOMEDCT:77489003", "medgen:46202", "icd11.foundation:1207385905", "HP:0001059"], "information_content": 87.2}
{"id": "UniProtKB:Q99523-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sortilin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99523-1", "PR:Q99523-1", "ENSEMBL:ENSP00000256637", "ENSEMBL:ENSP00000256637.6"], "information_content": 100.0}
{"id": "NCBIGene:10542", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LAMTOR5", "equivalent_identifiers": ["NCBIGene:10542", "ENSEMBL:ENSG00000134248", "HGNC:17955", "OMIM:608521", "UMLS:C1425201", "UniProtKB:A0A8Z5A536", "ENSEMBL:ENSP00000256644", "ENSEMBL:ENSP00000256644.4", "UniProtKB:O43504", "PR:O43504", "ENSEMBL:ENSP00000473439", "ENSEMBL:ENSP00000473439.1", "UMLS:C1431182", "MESH:C110719"]}
{"id": "NCBIGene:4853", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOTCH2", "equivalent_identifiers": ["NCBIGene:4853", "ENSEMBL:ENSG00000134250", "HGNC:7882", "OMIM:600275", "UMLS:C1417767", "UniProtKB:Q04721", "PR:Q04721", "ENSEMBL:ENSP00000256646", "ENSEMBL:ENSP00000256646.2", "UMLS:C1566695", "MESH:C497764", "UniProtKB:Q6IQ50"], "information_content": 87.2}
{"id": "UniProtKB:Q9H8W5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM45 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8W5-1", "PR:Q9H8W5-1", "ENSEMBL:ENSP00000256649", "ENSEMBL:ENSP00000256649.4"], "information_content": 100.0}
{"id": "UniProtKB:P61204-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61204-1", "PR:P61204-1", "ENSEMBL:ENSP00000256682", "ENSEMBL:ENSP00000256682.4", "ENSEMBL:ENSP00000438510", "ENSEMBL:ENSP00000438510.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96QD8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium-coupled neutral amino acid symporter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QD8-1", "PR:Q96QD8-1", "ENSEMBL:ENSP00000256689", "ENSEMBL:ENSP00000256689.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULH0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinase D-interacting substrate of 220 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULH0-1", "PR:Q9ULH0-1", "ENSEMBL:ENSP00000256707", "ENSEMBL:ENSP00000256707.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5EBM0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UMP-CMP kinase 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5EBM0-1", "PR:Q5EBM0-1", "ENSEMBL:ENSP00000256722", "ENSEMBL:ENSP00000256722.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anoctamin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYT9-1", "PR:Q9BYT9-1", "ENSEMBL:ENSP00000256737", "ENSEMBL:ENSP00000256737.3"], "information_content": 100.0}
{"id": "UniProtKB:P19883-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "follistatin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P19883-1", "PR:P19883-1", "ENSEMBL:ENSP00000256759", "ENSEMBL:ENSP00000256759.3"], "information_content": 92.8}
{"id": "NCBIGene:81494", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFHR5", "equivalent_identifiers": ["NCBIGene:81494", "ENSEMBL:ENSG00000134389", "HGNC:24668", "OMIM:608593", "UMLS:C1538446", "UniProtKB:Q9BXR6", "PR:Q9BXR6", "ENSEMBL:ENSP00000256785", "ENSEMBL:ENSP00000256785.4", "ENSEMBL:ENSP00000517752", "ENSEMBL:ENSP00000517752.1", "UMLS:C1448061", "MESH:C432223"], "information_content": 90.9}
{"id": "NCBIGene:10595", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERN2", "equivalent_identifiers": ["NCBIGene:10595", "ENSEMBL:ENSG00000134398", "HGNC:16942", "OMIM:604034", "UMLS:C1424653", "UniProtKB:A5YM46", "UMLS:C1433007", "MESH:C403982", "UniProtKB:A5YM65", "UniProtKB:E7ETG2", "ENSEMBL:ENSP00000413812", "ENSEMBL:ENSP00000413812.2", "UniProtKB:Q76MJ5", "PR:Q76MJ5", "ENSEMBL:ENSP00000256797", "ENSEMBL:ENSP00000256797.5"], "information_content": 100.0}
{"id": "UniProtKB:O43776-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "asparagine--tRNA ligase, cytoplasmic isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43776-1", "PR:O43776-1", "ENSEMBL:ENSP00000256854", "ENSEMBL:ENSP00000256854.4"], "information_content": 100.0}
{"id": "MONDO:0019344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "antisynthetase syndrome", "equivalent_identifiers": ["MONDO:0019344", "DOID:0080744", "orphanet:81", "EFO:1001982", "UMLS:C2609059", "MESH:C537778", "MEDDRA:10068801", "SNOMEDCT:445187004", "medgen:388567", "icd11.foundation:1572057936"], "information_content": 100.0}
{"id": "MONDO:0011549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 1", "equivalent_identifiers": ["MONDO:0011549", "DOID:0110698", "OMIM:605389", "UMLS:C4551976", "medgen:1644234"], "information_content": 100.0}
{"id": "UniProtKB:P07492-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gastrin-releasing peptide isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P07492-1", "PR:P07492-1", "ENSEMBL:ENSP00000256857", "ENSEMBL:ENSP00000256857.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9P260-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RAB11-binding protein RELCH isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9P260-2", "PR:Q9P260-2", "ENSEMBL:ENSP00000256858", "ENSEMBL:ENSP00000256858.5"], "information_content": 100.0}
{"id": "MONDO:0005233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-small cell lung carcinoma", "equivalent_identifiers": ["MONDO:0005233", "DOID:3908", "EFO:0003060", "UMLS:C0007131", "MESH:D002289", "MEDDRA:10029514", "MEDDRA:10061873", "NCIT:C2926", "SNOMEDCT:254637007", "medgen:40104", "KEGG.DISEASE:05223", "HP:0030358"], "information_content": 65.1}
{"id": "UniProtKB:Q9H3N8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histamine H4 receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3N8-1", "PR:Q9H3N8-1", "ENSEMBL:ENSP00000256906", "ENSEMBL:ENSP00000256906.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDN4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CDK5 and ABL1 enzyme substrate 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDN4-1", "PR:Q8TDN4-1", "ENSEMBL:ENSP00000256925", "ENSEMBL:ENSP00000256925.7"], "information_content": 100.0}
{"id": "MONDO:0850149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephroma", "equivalent_identifiers": ["MONDO:0850149", "DOID:0080615"], "information_content": 100.0}
{"id": "UniProtKB:P54849-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epithelial membrane protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P54849-1", "PR:P54849-1", "ENSEMBL:ENSP00000256951", "ENSEMBL:ENSP00000256951.5"], "information_content": 100.0}
{"id": "MONDO:0001559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "perineocele", "equivalent_identifiers": ["MONDO:0001559", "DOID:12637", "UMLS:C1456251", "MEDDRA:10087765", "MEDDRA:10087770", "medgen:1843478", "ICD10:N81.81", "ICD9:618.05"], "information_content": 100.0}
{"id": "UniProtKB:Q96A58-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related and estrogen-regulated growth inhibitor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96A58-1", "PR:Q96A58-1", "ENSEMBL:ENSP00000256953", "ENSEMBL:ENSP00000256953.2", "ENSEMBL:ENSP00000438280", "ENSEMBL:ENSP00000438280.1", "ENSEMBL:ENSP00000441505", "ENSEMBL:ENSP00000441505.1"], "information_content": 100.0}
{"id": "NCBIGene:10599", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLCO1B1", "equivalent_identifiers": ["NCBIGene:10599", "ENSEMBL:ENSG00000134538", "HGNC:10959", "OMIM:604843", "UMLS:C1420131", "UniProtKB:Q05CV5", "UniProtKB:Q9Y6L6", "PR:Q9Y6L6", "ENSEMBL:ENSP00000256958", "ENSEMBL:ENSP00000256958.2", "UMLS:C0752582", "MESH:C503999"], "information_content": 100.0}
{"id": "NCBIGene:80763", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPX", "equivalent_identifiers": ["NCBIGene:80763", "ENSEMBL:ENSG00000134548", "HGNC:28139", "OMIM:619246", "UMLS:C1824360", "UniProtKB:Q9BT56", "PR:Q9BT56", "ENSEMBL:ENSP00000256969", "ENSEMBL:ENSP00000256969.2", "UMLS:C2745173", "MESH:C546416"], "information_content": 100.0}
{"id": "UniProtKB:Q92466-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA damage-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92466-1", "PR:Q92466-1", "ENSEMBL:ENSP00000256996", "ENSEMBL:ENSP00000256996.4"], "information_content": 100.0}
{"id": "UniProtKB:Q04609-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate carboxypeptidase 2 isoform hPSMA-1 (human)", "equivalent_identifiers": ["UniProtKB:Q04609-1", "PR:Q04609-1", "ENSEMBL:ENSP00000256999", "ENSEMBL:ENSP00000256999.2"], "information_content": 100.0}
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{"id": "MONDO:0004608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oropharynx cancer", "equivalent_identifiers": ["MONDO:0004608", "DOID:8557", "EFO:1001931", "UMLS:C0153382", "UMLS:C0153388", "UMLS:C0153389", "UMLS:C0153390", "UMLS:C3165521", "MESH:D009959", "MEDDRA:10026005", "MEDDRA:10026064", "MEDDRA:10026184", "MEDDRA:10026185", "MEDDRA:10026378", "NCIT:C194050", "NCIT:C194051", "NCIT:C7398", "SNOMEDCT:187688008", "SNOMEDCT:363392002", "SNOMEDCT:448868009", "SNOMEDCT:93862005", "medgen:57783", "ICD10:C10", "ICD10:C10.2", "ICD10:C10.3", "ICD10:C10.8", "ICD9:146", "ICD9:146.5", "ICD9:146.6", "ICD9:146.7"], "information_content": 69.6}
{"id": "MONDO:0001325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "penile cancer", "equivalent_identifiers": ["MONDO:0001325", "DOID:11615", "orphanet:398043", "UMLS:C0153600", "UMLS:C0153601", "MEDDRA:10025767", "MEDDRA:10026339", "MEDDRA:10034299", "MEDDRA:10034300", "MEDDRA:10034307", "MEDDRA:10061337", "NCIT:C194358", "NCIT:C7547", "SNOMEDCT:188230001", "SNOMEDCT:363516004", "medgen:102277", "ICD10:C60", "ICD10:C60.2", "ICD9:187.3", "ICD9:187.4"], "information_content": 71.2}
{"id": "MONDO:0006085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiolipoma", "equivalent_identifiers": ["MONDO:0006085", "DOID:3616", "EFO:1000085", "UMLS:C0206632", "UMLS:C4024980", "MESH:D018206", "MEDDRA:10048945", "NCIT:C3733", "SNOMEDCT:404057003", "SNOMEDCT:73219006", "medgen:64621", "HP:0006773"], "information_content": 86.3}
{"id": "MONDO:0005447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular cancer", "equivalent_identifiers": ["MONDO:0005447", "DOID:2998", "EFO:0005088", "UMLS:C0153594", "MESH:D013736", "MEDDRA:10026527", "MEDDRA:10043302", "MEDDRA:10043322", "MEDDRA:10043362", "MEDDRA:10057644", "NCIT:C7251", "SNOMEDCT:363449006", "medgen:56313", "ICD10:C62", "ICD9:186"], "information_content": 66.9}
{"id": "NCBIGene:9363", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB33A", "equivalent_identifiers": ["NCBIGene:9363", "ENSEMBL:ENSG00000134594", "HGNC:9773", "OMIM:300333", "UMLS:C1419202", "UniProtKB:Q14088", "PR:Q14088", "ENSEMBL:ENSP00000257017", "ENSEMBL:ENSP00000257017.4", "UMLS:C1308029", "MESH:C105244"], "information_content": 92.8}
{"id": "MONDO:0009130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dyggve-Melchior-Clausen disease", "equivalent_identifiers": ["MONDO:0009130", "DOID:0111167", "OMIM:223800", "orphanet:239", "UMLS:C0265286", "MESH:C535726", "NCIT:C124844", "SNOMEDCT:82699004", "medgen:120527", "icd11.foundation:21266164"], "information_content": 95.4}
{"id": "MONDO:0011259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 22", "equivalent_identifiers": ["MONDO:0011259", "DOID:0110400", "OMIM:602594", "UMLS:C3887981", "medgen:854689"], "information_content": 100.0}
{"id": "NCBIGene:4544", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTNR1B", "equivalent_identifiers": ["NCBIGene:4544", "ENSEMBL:ENSG00000134640", "HGNC:7464", "OMIM:600804", "UMLS:C1442506", "UniProtKB:P49286", "PR:P49286", "ENSEMBL:ENSP00000257068", "ENSEMBL:ENSP00000257068.2", "UMLS:C3493561", "MESH:C573871"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXK0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyhomeotic-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXK0-1", "PR:Q8IXK0-1", "ENSEMBL:ENSP00000257118", "ENSEMBL:ENSP00000257118.5"], "information_content": 100.0}
{"id": "MONDO:0000672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "form agnosia", "equivalent_identifiers": ["MONDO:0000672", "DOID:0060142", "UMLS:C0563621", "SNOMEDCT:285757001", "medgen:107878"], "information_content": 100.0}
{"id": "MONDO:0000660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "akinetopsia", "equivalent_identifiers": ["MONDO:0000660", "DOID:0060130"], "information_content": 100.0}
{"id": "UniProtKB:Q5TAX3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "terminal uridylyltransferase 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5TAX3-3", "PR:Q5TAX3-3", "ENSEMBL:ENSP00000257177", "ENSEMBL:ENSP00000257177.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8NAV1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pre-mRNA-splicing factor 38A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NAV1-1", "PR:Q8NAV1-1", "ENSEMBL:ENSP00000257181", "ENSEMBL:ENSP00000257181.8"], "information_content": 100.0}
{"id": "NCBIGene:1830", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DSG3", "equivalent_identifiers": ["NCBIGene:1830", "ENSEMBL:ENSG00000134757", "HGNC:3050", "OMIM:169615", "UMLS:C1414170", "UniProtKB:P32926", "PR:P32926", "ENSEMBL:ENSP00000257189", "ENSEMBL:ENSP00000257189.4", "UMLS:C1429685", "UMLS:C5441614", "MESH:C071894"], "information_content": 87.2}
{"id": "MONDO:0018181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "staphylococcal scalded skin syndrome", "equivalent_identifiers": ["MONDO:0018181", "DOID:9063", "orphanet:36236", "EFO:0007473", "UMLS:C0038165", "UMLS:C0678185", "MESH:D013206", "MEDDRA:10039199", "MEDDRA:10039200", "MEDDRA:10039515", "MEDDRA:10041929", "NCIT:C85077", "SNOMEDCT:200946001", "SNOMEDCT:277475006", "medgen:52484", "icd11.foundation:1554593739", "ICD10:L00", "ICD9:695.81"], "information_content": 100.0}
{"id": "MONDO:0002963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acantholytic acanthoma", "equivalent_identifiers": ["MONDO:0002963", "DOID:4324", "UMLS:C1301270", "NCIT:C27517", "SNOMEDCT:397188008", "medgen:220970"], "information_content": 100.0}
{"id": "UniProtKB:Q02413-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "desmoglein-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02413-1", "PR:Q02413-1", "ENSEMBL:ENSP00000257192", "ENSEMBL:ENSP00000257192.4"], "information_content": 100.0}
{"id": "MONDO:0017137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "onchocerciasis", "equivalent_identifiers": ["MONDO:0017137", "DOID:11678", "orphanet:2737", "EFO:0007402", "UMLS:C0029001", "MESH:D009855", "MEDDRA:10030313", "MEDDRA:10030314", "NCIT:C34861", "SNOMEDCT:38539003", "medgen:14477", "icd11.foundation:106136071", "ICD10:B73", "ICD9:125.3"], "information_content": 95.4}
{"id": "UniProtKB:Q08554-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "desmocollin-1 isoform h1A (human)", "equivalent_identifiers": ["UniProtKB:Q08554-1", "PR:Q08554-1", "ENSEMBL:ENSP00000257198", "ENSEMBL:ENSP00000257198.6"], "information_content": 100.0}
{"id": "MONDO:0014574", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PLACK syndrome", "equivalent_identifiers": ["MONDO:0014574", "DOID:0070526", "OMIM:616295", "orphanet:444138", "UMLS:C4225381", "SNOMEDCT:1237509001", "medgen:902464"], "information_content": 100.0}
{"id": "NCBIGene:747", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DAGLA", "equivalent_identifiers": ["NCBIGene:747", "ENSEMBL:ENSG00000134780", "HGNC:1165", "OMIM:614015", "UMLS:C1412864", "UniProtKB:Q9Y4D2", "PR:Q9Y4D2", "ENSEMBL:ENSP00000257215", "ENSEMBL:ENSP00000257215.5", "UMLS:C1433448", "MESH:C480280"], "information_content": 100.0}
{"id": "NCBIGene:26519", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMM10", "equivalent_identifiers": ["NCBIGene:26519", "ENSEMBL:ENSG00000134809", "HGNC:11814", "OMIM:602251", "UMLS:C1420738", "UniProtKB:P62072", "PR:P62072", "ENSEMBL:ENSP00000257245", "ENSEMBL:ENSP00000257245.4", "ENSEMBL:ENSP00000433627", "ENSEMBL:ENSP00000433627.1", "ENSEMBL:ENSP00000435678", "ENSEMBL:ENSP00000435678.1", "UMLS:C5702569"], "information_content": 95.4}
{"id": "UniProtKB:P27352-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cobalamin binding intrinsic factor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P27352-1", "PR:P27352-1", "ENSEMBL:ENSP00000257248", "ENSEMBL:ENSP00000257248.2"], "information_content": 100.0}
{"id": "MONDO:0031014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune gastritis", "equivalent_identifiers": ["MONDO:0031014", "DOID:0040090", "UMLS:C3887639", "MEDDRA:10082104", "NCIT:C95752", "medgen:854482", "icd11.foundation:248006617"], "information_content": 100.0}
{"id": "MONDO:0015260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diphyllobothriasis", "equivalent_identifiers": ["MONDO:0015260", "DOID:10075", "orphanet:128", "EFO:0007238", "UMLS:C0012561", "MESH:D004169", "MEDDRA:10013029", "MEDDRA:10013030", "MEDDRA:10016710", "NCIT:C128391", "SNOMEDCT:187151009", "SNOMEDCT:359799003", "medgen:3858", "icd11.foundation:1679215344", "ICD10:B70.0", "ICD9:123.4"], "information_content": 100.0}
{"id": "MONDO:0005137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malnutrition", "equivalent_identifiers": ["MONDO:0005137", "DOID:374", "EFO:0001069", "EFO:0008572", "UMLS:C0162429", "UMLS:C3714509", "MESH:D009748", "MESH:D044342", "MEDDRA:10026713", "MEDDRA:10061273", "NCIT:C26836", "SNOMEDCT:248325000", "SNOMEDCT:2492009", "SNOMEDCT:47563007", "SNOMEDCT:65404009", "medgen:811347", "ICD10:X53", "HP:0004395"], "information_content": 66.3}
{"id": "NCBIGene:6947", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCN1", "equivalent_identifiers": ["NCBIGene:6947", "ENSEMBL:ENSG00000134827", "HGNC:11652", "OMIM:189905", "UMLS:C1420652", "UniProtKB:P20061", "PR:P20061", "ENSEMBL:ENSP00000257264", "ENSEMBL:ENSP00000257264.3", "UMLS:C5882271", "MESH:C000729312"], "information_content": 95.4}
{"id": "UniProtKB:Q66GS9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 135 kDa isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q66GS9-1", "PR:Q66GS9-1", "ENSEMBL:ENSP00000257287", "ENSEMBL:ENSP00000257287.3"], "information_content": 100.0}
{"id": "UniProtKB:P16234-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "platelet-derived growth factor receptor alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P16234-1", "PR:P16234-1", "ENSEMBL:ENSP00000257290", "ENSEMBL:ENSP00000257290.5"], "information_content": 100.0}
{"id": "DOID:0080533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Carney-Stratakis syndrome", "equivalent_identifiers": ["DOID:0080533", "OMIM:606864", "UMLS:C1847319", "MESH:C564650", "NCIT:C94831", "SNOMEDCT:722377004"], "information_content": 100.0}
{"id": "UniProtKB:Q86YF9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilium assembly protein DZIP1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YF9-1", "PR:Q86YF9-1", "ENSEMBL:ENSP00000257312", "ENSEMBL:ENSP00000257312.5", "ENSEMBL:ENSP00000366025", "ENSEMBL:ENSP00000366025.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86UB2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "basic immunoglobulin-like variable motif-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UB2-1", "PR:Q86UB2-1", "ENSEMBL:ENSP00000257336", "ENSEMBL:ENSP00000257336.1", "ENSEMBL:ENSP00000498544", "ENSEMBL:ENSP00000498544.1"], "information_content": 100.0}
{"id": "MONDO:0007726", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hip dysplasia, Beukes type", "equivalent_identifiers": ["MONDO:0007726", "DOID:0111367", "OMIM:142669", "orphanet:2114", "UMLS:C1840572", "MESH:C564185", "SNOMEDCT:721148005", "medgen:333593"], "information_content": 100.0}
{"id": "NCBIGene:79587", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CARS2", "equivalent_identifiers": ["NCBIGene:79587", "ENSEMBL:ENSG00000134905", "HGNC:25695", "OMIM:612800", "UMLS:C2240335", "UniProtKB:B7Z7E6", "UniProtKB:Q9HA77", "PR:Q9HA77", "ENSEMBL:ENSP00000257347", "ENSEMBL:ENSP00000257347.4", "UMLS:C4042461", "MESH:C000595892"], "information_content": 95.4}
{"id": "MONDO:0000684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "verbal auditory agnosia", "equivalent_identifiers": ["MONDO:0000684", "DOID:0060154"], "information_content": 100.0}
{"id": "MONDO:0002904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "echolalia", "equivalent_identifiers": ["MONDO:0002904", "DOID:4188", "UMLS:C0013528", "UMLS:C4280380", "MESH:D004454", "MEDDRA:10014127", "NCIT:C97166", "SNOMEDCT:64712007", "medgen:8532", "icd11.foundation:928818606", "HP:0010529"], "information_content": 92.8}
{"id": "MONDO:0008758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alpers Syndrome", "equivalent_identifiers": ["MONDO:0008758", "DOID:0080122", "OMIM:203700", "orphanet:726", "UMLS:C0205710", "MEDDRA:10062943", "MEDDRA:10083857", "NCIT:C35257", "SNOMEDCT:20415001", "medgen:60012", "ICD10:G31.81"], "information_content": 100.0}
{"id": "MONDO:0010381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tn Syndrome", "equivalent_identifiers": ["MONDO:0010381", "DOID:0080520", "OMIM:300622", "UMLS:C0272137", "MESH:C562719", "SNOMEDCT:40387008", "medgen:82896"], "information_content": 100.0}
{"id": "NCBIGene:11095", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAMTS8", "equivalent_identifiers": ["NCBIGene:11095", "ENSEMBL:ENSG00000134917", "HGNC:224", "OMIM:605175", "UMLS:C1412214", "UniProtKB:Q5FWF1", "UMLS:C0908186", "MESH:C120807", "UniProtKB:Q9UP79", "PR:Q9UP79", "ENSEMBL:ENSP00000257359", "ENSEMBL:ENSP00000257359.6"], "information_content": 92.8}
{"id": "NCBIGene:152831", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLB", "equivalent_identifiers": ["NCBIGene:152831", "ENSEMBL:ENSG00000134962", "HGNC:15527", "OMIM:611135", "UMLS:C1825715", "UniProtKB:B4DYH5", "UniProtKB:Q86Z14", "PR:Q86Z14", "ENSEMBL:ENSP00000257408", "ENSEMBL:ENSP00000257408.4", "UMLS:C2714298", "MESH:C538995"], "information_content": 92.8}
{"id": "UniProtKB:Q9H2E6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "semaphorin-6A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2E6-2", "PR:Q9H2E6-2", "ENSEMBL:ENSP00000257414", "ENSEMBL:ENSP00000257414.8"], "information_content": 100.0}
{"id": "UniProtKB:P25054-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenomatous polyposis coli protein isoform h1A (human)", "equivalent_identifiers": ["UniProtKB:P25054-1", "PR:P25054-1", "ENSEMBL:ENSP00000257430", "ENSEMBL:ENSP00000257430.4", "ENSEMBL:ENSP00000423828", "ENSEMBL:ENSP00000423828.3", "ENSEMBL:ENSP00000426541", "ENSEMBL:ENSP00000426541.2", "ENSEMBL:ENSP00000427089", "ENSEMBL:ENSP00000427089.2"], "information_content": 89.4}
{"id": "UniProtKB:Q9H013-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 19 isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q9H013-2", "PR:Q9H013-2", "ENSEMBL:ENSP00000257527", "ENSEMBL:ENSP00000257527.5"], "information_content": 100.0}
{"id": "NCBIGene:84749", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP30", "equivalent_identifiers": ["NCBIGene:84749", "ENSEMBL:ENSG00000135093", "HGNC:20065", "OMIM:612492", "UMLS:C1426653", "UniProtKB:B3KUS5", "ENSEMBL:ENSP00000376535", "ENSEMBL:ENSP00000376535.2", "UniProtKB:Q70CQ3", "PR:Q70CQ3", "ENSEMBL:ENSP00000257548", "ENSEMBL:ENSP00000257548.5"], "information_content": 92.8}
{"id": "MONDO:0100309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary ataxia", "equivalent_identifiers": ["MONDO:0100309", "DOID:0050951", "orphanet:183518", "EFO:0009671", "UMLS:C0004138", "UMLS:C2936896", "MESH:C531684", "MEDDRA:10062002", "SNOMEDCT:763597000", "medgen:2478", "icd11.foundation:442347652"], "information_content": 64.5}
{"id": "NCBIGene:10993", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDS", "equivalent_identifiers": ["NCBIGene:10993", "ENSEMBL:ENSG00000135094", "HGNC:10691", "OMIM:182128", "UMLS:C1419917", "UniProtKB:P20132", "PR:P20132", "ENSEMBL:ENSP00000257549", "ENSEMBL:ENSP00000257549.4", "UniProtKB:Q8WW81"], "information_content": 92.8}
{"id": "MONDO:0010133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid dyshormonogenesis 2A", "equivalent_identifiers": ["MONDO:0010133", "DOID:0112186", "OMIM:274500", "UMLS:C1291299", "MESH:C563206", "NCIT:C121750", "SNOMEDCT:124204003", "medgen:226940"], "information_content": 100.0}
{"id": "MONDO:0020741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant", "equivalent_identifiers": ["MONDO:0020741", "DOID:0070519", "OMIM:266100"], "information_content": 100.0}
{"id": "NCBIGene:4440", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MSI1", "equivalent_identifiers": ["NCBIGene:4440", "ENSEMBL:ENSG00000135097", "HGNC:7330", "OMIM:603328", "UMLS:C1417335", "UniProtKB:O43347", "PR:O43347", "ENSEMBL:ENSP00000257552", "ENSEMBL:ENSP00000257552.2", "UMLS:C0760152", "UMLS:C2698936", "MESH:C491297"], "information_content": 95.4}
{"id": "UniProtKB:O15119-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-box transcription factor TBX3 isoform II (human)", "equivalent_identifiers": ["UniProtKB:O15119-1", "PR:O15119-1", "ENSEMBL:ENSP00000257566", "ENSEMBL:ENSP00000257566.3"], "information_content": 100.0}
{"id": "MONDO:0016955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "partial duplication of the long arm of chromosome 4", "equivalent_identifiers": ["MONDO:0016955", "DOID:0111159", "orphanet:262860", "UMLS:C0795812", "MESH:C537644", "medgen:162874", "icd11.foundation:959729903"], "information_content": 92.8}
{"id": "UniProtKB:Q15646-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2'-5'-oligoadenylate synthase-like protein isoform hp56 (human)", "equivalent_identifiers": ["UniProtKB:Q15646-1", "PR:Q15646-1", "ENSEMBL:ENSP00000257570", "ENSEMBL:ENSP00000257570.4"], "information_content": 100.0}
{"id": "NCBIGene:8739", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HRK", "equivalent_identifiers": ["NCBIGene:8739", "ENSEMBL:ENSG00000135116", "HGNC:5185", "OMIM:603447", "UMLS:C1333925", "UniProtKB:O00198", "PR:O00198", "ENSEMBL:ENSP00000257572", "ENSEMBL:ENSP00000257572.4", "UMLS:C0538571", "MESH:C484586"], "information_content": 100.0}
{"id": "NCBIGene:1840", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DTX1", "equivalent_identifiers": ["NCBIGene:1840", "ENSEMBL:ENSG00000135144", "HGNC:3060", "OMIM:602582", "UMLS:C1333256", "UniProtKB:Q86Y01", "PR:Q86Y01", "ENSEMBL:ENSP00000257600", "ENSEMBL:ENSP00000257600.3", "ENSEMBL:ENSP00000510707", "ENSEMBL:ENSP00000510707.1", "UMLS:C3712409", "MESH:C583410"], "information_content": 95.4}
{"id": "UniProtKB:A4D1B5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-secretase-activating protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A4D1B5-1", "PR:A4D1B5-1", "ENSEMBL:ENSP00000257626", "ENSEMBL:ENSP00000257626.7"], "information_content": 100.0}
{"id": "NCBIGene:4951", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OCM2", "equivalent_identifiers": ["NCBIGene:4951", "ENSEMBL:ENSG00000135175", "HGNC:34396", "OMIM:620522", "UMLS:C2678529", "UniProtKB:P0CE71", "PR:P0CE71", "ENSEMBL:ENSP00000257627", "ENSEMBL:ENSP00000257627.4"], "information_content": 100.0}
{"id": "NCBIGene:85025", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM60", "equivalent_identifiers": ["NCBIGene:85025", "ENSEMBL:ENSG00000135211", "HGNC:21754", "UMLS:C1823322", "UniProtKB:Q9H2L4", "PR:Q9H2L4", "ENSEMBL:ENSP00000257663", "ENSEMBL:ENSP00000257663.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9NP80-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-independent phospholipase A2-gamma isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP80-1", "PR:Q9NP80-1", "ENSEMBL:ENSP00000257694", "ENSEMBL:ENSP00000257694.8", "ENSEMBL:ENSP00000406779", "ENSEMBL:ENSP00000406779.1", "ENSEMBL:ENSP00000410804", "ENSEMBL:ENSP00000410804.1"], "information_content": 100.0}
{"id": "MONDO:0014728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 27", "equivalent_identifiers": ["MONDO:0014728", "DOID:0111489", "OMIM:616672", "orphanet:477774", "EFO:0009037", "UMLS:C5567608", "NCIT:C185238", "SNOMEDCT:1172844009", "medgen:1799031"], "information_content": 100.0}
{"id": "NCBIGene:29923", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HILPDA", "equivalent_identifiers": ["NCBIGene:29923", "ENSEMBL:ENSG00000135245", "HGNC:28859", "OMIM:617905", "UMLS:C2681253", "UniProtKB:Q9Y5L2", "PR:Q9Y5L2", "ENSEMBL:ENSP00000257696", "ENSEMBL:ENSP00000257696.4", "ENSEMBL:ENSP00000388871", "ENSEMBL:ENSP00000388871.2", "UMLS:C1309420", "MESH:C405620"], "information_content": 100.0}
{"id": "NCBIGene:60561", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RINT1", "equivalent_identifiers": ["NCBIGene:60561", "ENSEMBL:ENSG00000135249", "HGNC:21876", "OMIM:610089", "UMLS:C1826831", "UniProtKB:Q6NUQ1", "PR:Q6NUQ1", "ENSEMBL:ENSP00000257700", "ENSEMBL:ENSP00000257700.2", "UMLS:C0965122", "MESH:C422909"], "information_content": 87.2}
{"id": "MONDO:0008214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pelger-Huet anomaly", "equivalent_identifiers": ["MONDO:0008214", "DOID:9631", "OMIM:169400", "EFO:1001093", "UMLS:C0030779", "UMLS:C4023351", "MESH:D010381", "NCIT:C85002", "SNOMEDCT:85559002", "medgen:10617", "icd11.foundation:1210390183", "HP:0011447"], "information_content": 100.0}
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{"id": "NCBIGene:55122", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AKIRIN2", "equivalent_identifiers": ["NCBIGene:55122", "ENSEMBL:ENSG00000135334", "HGNC:21407", "OMIM:615165", "UMLS:C1427552", "UniProtKB:Q53H80", "PR:Q53H80", "ENSEMBL:ENSP00000257787", "ENSEMBL:ENSP00000257787.5", "UniProtKB:Q9NW35"], "information_content": 89.4}
{"id": "MONDO:0859380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic kinesigenic dyskinesia 3", "equivalent_identifiers": ["MONDO:0859380", "DOID:0060944", "OMIM:620245", "UMLS:C5830280", "medgen:1840916"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBD5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "origin recognition complex subunit 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBD5-2", "PR:Q9UBD5-2", "ENSEMBL:ENSP00000257789", "ENSEMBL:ENSP00000257789.4"], "information_content": 100.0}
{"id": "UniProtKB:P25791-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rhombotin-2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P25791-3", "PR:P25791-3", "ENSEMBL:ENSP00000257818", "ENSEMBL:ENSP00000257818.2"], "information_content": 100.0}
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{"id": "MONDO:0010703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ornithine carbamoyltransferase deficiency", "equivalent_identifiers": ["MONDO:0010703", "DOID:9271", "OMIM:311250", "orphanet:664", "EFO:0007409", "UMLS:C0268542", "MESH:D020163", "MEDDRA:10052450", "MEDDRA:10052513", "MEDDRA:10071107", "NCIT:C84957", "SNOMEDCT:80908008", "medgen:75692", "icd11.foundation:1822444026", "ICD10:E72.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0A0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA cytidine acetyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0A0-1", "PR:Q9H0A0-1", "ENSEMBL:ENSP00000257829", "ENSEMBL:ENSP00000257829.3"], "information_content": 100.0}
{"id": "NCBIGene:79056", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRRG4", "equivalent_identifiers": ["NCBIGene:79056", "ENSEMBL:ENSG00000135378", "HGNC:30799", "OMIM:611690", "UMLS:C1538726", "UniProtKB:A0A0S2Z5M6", "UMLS:C1447935", "MESH:C423615", "UniProtKB:A0A0S2Z5N9", "UniProtKB:Q9BZD6", "PR:Q9BZD6", "ENSEMBL:ENSP00000257836", "ENSEMBL:ENSP00000257836.3"], "information_content": 100.0}
{"id": "UniProtKB:O75366-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "advillin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75366-1", "PR:O75366-1", "ENSEMBL:ENSP00000257861", "ENSEMBL:ENSP00000257861.3", "ENSEMBL:ENSP00000449239", "ENSEMBL:ENSP00000449239.2"], "information_content": 100.0}
{"id": "MONDO:0100218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis multiplex congenita 5", "equivalent_identifiers": ["MONDO:0100218", "DOID:0080981", "OMIM:618947", "UMLS:C5436453", "medgen:1731112"], "information_content": 100.0}
{"id": "UniProtKB:Q16671-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anti-Muellerian hormone type-2 receptor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16671-1", "PR:Q16671-1", "ENSEMBL:ENSP00000257863", "ENSEMBL:ENSP00000257863.3"], "information_content": 100.0}
{"id": "NCBIGene:90070", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LACRT", "equivalent_identifiers": ["NCBIGene:90070", "ENSEMBL:ENSG00000135413", "HGNC:16430", "OMIM:607360", "UMLS:C1424273", "UniProtKB:Q9GZZ8", "PR:Q9GZZ8", "ENSEMBL:ENSP00000257867", "ENSEMBL:ENSP00000257867.4", "UMLS:C1432203", "MESH:C431764"], "information_content": 100.0}
{"id": "MONDO:0001519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "entropion", "equivalent_identifiers": ["MONDO:0001519", "DOID:12397", "UMLS:C0014390", "MESH:D004774", "MEDDRA:10014924", "MEDDRA:10014926", "MEDDRA:10061842", "SNOMEDCT:33168009", "medgen:41813", "ICD9:374.00", "HP:0000621"], "information_content": 85.5}
{"id": "MONDO:0001249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trachoma", "equivalent_identifiers": ["MONDO:0001249", "DOID:11265", "UMLS:C0040592", "UMLS:C0153107", "UMLS:C0153108", "MESH:D014141", "MEDDRA:10044325", "MEDDRA:10044327", "MEDDRA:10044328", "MEDDRA:10044329", "SNOMEDCT:2576002", "SNOMEDCT:29976007", "SNOMEDCT:52812002", "medgen:52801", "icd11.foundation:372424530", "ICD10:A71", "ICD10:A71.0", "ICD10:A71.1", "ICD9:076", "ICD9:076.0", "ICD9:076.1"], "information_content": 100.0}
{"id": "MONDO:0000664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "apperceptive agnosia", "equivalent_identifiers": ["MONDO:0000664", "DOID:0060134"], "information_content": 100.0}
{"id": "NCBIGene:10220", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GDF11", "equivalent_identifiers": ["NCBIGene:10220", "ENSEMBL:ENSG00000135414", "HGNC:4216", "OMIM:603936", "UMLS:C1415032", "UniProtKB:O95390", "PR:O95390", "ENSEMBL:ENSP00000257868", "ENSEMBL:ENSP00000257868.5", "UMLS:C1453137", "MESH:C492266"], "information_content": 100.0}
{"id": "MONDO:0013598", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myostatin-related muscle hypertrophy", "equivalent_identifiers": ["MONDO:0013598", "DOID:0111072", "OMIM:614160", "UMLS:C2931112", "MESH:C536106", "SNOMEDCT:699185005", "medgen:418994"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYM0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM186B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYM0-1", "PR:Q8IYM0-1", "ENSEMBL:ENSP00000257894", "ENSEMBL:ENSP00000257894.2"], "information_content": 100.0}
{"id": "NCBIGene:5959", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RDH5", "equivalent_identifiers": ["NCBIGene:5959", "ENSEMBL:ENSG00000135437", "HGNC:9940", "OMIM:601617", "UMLS:C1419328", "UniProtKB:Q92781", "PR:Q92781", "ENSEMBL:ENSP00000257895", "ENSEMBL:ENSP00000257895.6", "ENSEMBL:ENSP00000447128", "ENSEMBL:ENSP00000447128.1", "UMLS:C1506614"], "information_content": 88.2}
{"id": "MONDO:0009235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial benign flecked retina", "equivalent_identifiers": ["MONDO:0009235", "DOID:0111677", "OMIM:228980", "orphanet:363989", "UMLS:C1856718", "MESH:C565564", "SNOMEDCT:770434009", "medgen:341605"], "information_content": 100.0}
{"id": "NCBIGene:3891", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT85", "equivalent_identifiers": ["NCBIGene:3891", "ENSEMBL:ENSG00000135443", "HGNC:6462", "OMIM:602767", "UMLS:C1825772", "UniProtKB:B7Z7N3", "UMLS:C1668338", "MESH:C507604", "UniProtKB:F5GYI5", "ENSEMBL:ENSP00000440240", "ENSEMBL:ENSP00000440240.1", "UniProtKB:P78386", "PR:P78386", "ENSEMBL:ENSP00000257901", "ENSEMBL:ENSP00000257901.3"], "information_content": 95.4}
{"id": "MONDO:0004460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal adenoma", "equivalent_identifiers": ["MONDO:0004460", "DOID:8102", "UMLS:C0334328", "NCIT:C4160", "SNOMEDCT:30301008", "medgen:137743"], "information_content": 100.0}
{"id": "UniProtKB:P11802-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P11802-1", "PR:P11802-1", "ENSEMBL:ENSP00000257904", "ENSEMBL:ENSP00000257904.5"], "information_content": 100.0}
{"id": "DOID:0111511", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melanoma and neural system tumor syndrome", "equivalent_identifiers": ["DOID:0111511", "OMIM:155755", "UMLS:C1835042", "MESH:C536149", "NCIT:C176905", "SNOMEDCT:717968005"], "information_content": 100.0}
{"id": "NCBIGene:5502", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R1A", "equivalent_identifiers": ["NCBIGene:5502", "ENSEMBL:ENSG00000135447", "HGNC:9286", "OMIM:613246", "UMLS:C1418824", "UniProtKB:Q13522", "PR:Q13522", "ENSEMBL:ENSP00000257905", "ENSEMBL:ENSP00000257905.8"], "information_content": 92.8}
{"id": "UniProtKB:Q12815-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tastin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12815-1", "PR:Q12815-1", "ENSEMBL:ENSP00000257909", "ENSEMBL:ENSP00000257909.3"], "information_content": 100.0}
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{"id": "NCBIGene:23416", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNH3", "equivalent_identifiers": ["NCBIGene:23416", "ENSEMBL:ENSG00000135519", "HGNC:6252", "OMIM:604527", "UMLS:C1416573", "UniProtKB:Q9ULD8", "PR:Q9ULD8", "ENSEMBL:ENSP00000257981", "ENSEMBL:ENSP00000257981.5", "UMLS:C1309215", "MESH:C121381"], "information_content": 95.4}
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{"id": "NCBIGene:6610", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMPD2", "equivalent_identifiers": ["NCBIGene:6610", "ENSEMBL:ENSG00000135587", "HGNC:11121", "OMIM:603498", "UMLS:C1420260", "UniProtKB:O60906", "PR:O60906", "ENSEMBL:ENSP00000258052", "ENSEMBL:ENSP00000258052.3", "UMLS:C3539580"], "information_content": 95.4}
{"id": "UniProtKB:O43464-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine protease HTRA2, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43464-1", "PR:O43464-1", "ENSEMBL:ENSP00000258080", "ENSEMBL:ENSP00000258080.3"], "information_content": 100.0}
{"id": "NCBIGene:84279", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRADC1", "equivalent_identifiers": ["NCBIGene:84279", "ENSEMBL:ENSG00000135617", "HGNC:16047", "OMIM:619674", "UMLS:C1423937", "UniProtKB:Q9BSG0", "PR:Q9BSG0", "ENSEMBL:ENSP00000258083", "ENSEMBL:ENSP00000258083.2", "UMLS:C1530157", "MESH:C494126"], "information_content": 95.4}
{"id": "UniProtKB:Q99832-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-complex protein 1 subunit eta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99832-1", "PR:Q99832-1", "ENSEMBL:ENSP00000258091", "ENSEMBL:ENSP00000258091.5"], "information_content": 100.0}
{"id": "UniProtKB:Q04741-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein EMX1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q04741-1", "PR:Q04741-1", "ENSEMBL:ENSP00000258106", "ENSEMBL:ENSP00000258106.6"], "information_content": 100.0}
{"id": "NCBIGene:27345", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNMB4", "equivalent_identifiers": ["NCBIGene:27345", "ENSEMBL:ENSG00000135643", "HGNC:6289", "OMIM:605223", "UMLS:C1416607", "UniProtKB:Q86W47", "PR:Q86W47", "ENSEMBL:ENSP00000258111", "ENSEMBL:ENSP00000258111.4", "UMLS:C1439015", "MESH:C410183"], "information_content": 95.4}
{"id": "MONDO:0030871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vertebral hypersegmentation and orofacial anomalies", "equivalent_identifiers": ["MONDO:0030871", "DOID:0070418", "OMIM:619122", "UMLS:C5436851", "medgen:1746640"], "information_content": 100.0}
{"id": "UniProtKB:P15586-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetylglucosamine-6-sulfatase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P15586-1", "PR:P15586-1", "ENSEMBL:ENSP00000258145", "ENSEMBL:ENSP00000258145.3"], "information_content": 100.0}
{"id": "UniProtKB:Q00987-11", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase Mdm2 isoform h11 (human)", "equivalent_identifiers": ["UniProtKB:Q00987-11", "PR:Q00987-11", "ENSEMBL:ENSP00000258149", "ENSEMBL:ENSP00000258149.6"], "information_content": 100.0}
{"id": "NCBIGene:53630", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCO1", "equivalent_identifiers": ["NCBIGene:53630", "ENSEMBL:ENSG00000135697", "HGNC:13815", "OMIM:605748", "UMLS:C1422210", "UniProtKB:Q9HAY6", "PR:Q9HAY6", "ENSEMBL:ENSP00000258168", "ENSEMBL:ENSP00000258168.2", "UMLS:C1313655", "MESH:C493358"], "information_content": 100.0}
{"id": "MONDO:0021162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carotenemia", "equivalent_identifiers": ["MONDO:0021162", "DOID:9969", "UMLS:C0154271", "MEDDRA:10007673", "MEDDRA:10007679", "MEDDRA:10020594", "MEDDRA:10020595", "NCIT:C26963", "SNOMEDCT:35487009", "medgen:56338", "ICD10:E67.1", "ICD9:278.3"], "information_content": 100.0}
{"id": "MONDO:0007662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior segment dysgenesis 4", "equivalent_identifiers": ["MONDO:0007662", "DOID:0080609", "OMIM:137600", "UMLS:C1842031", "MESH:C535536", "medgen:330750"], "information_content": 100.0}
{"id": "NCBIGene:10200", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MPHOSPH6", "equivalent_identifiers": ["NCBIGene:10200", "ENSEMBL:ENSG00000135698", "HGNC:7214", "OMIM:605500", "UMLS:C1417242", "UniProtKB:H3BNT4", "ENSEMBL:ENSP00000454996", "ENSEMBL:ENSP00000454996.1", "UniProtKB:Q99547", "PR:Q99547", "ENSEMBL:ENSP00000258169", "ENSEMBL:ENSP00000258169.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6L2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 231 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6L2-1", "PR:Q9H6L2-1", "ENSEMBL:ENSP00000258173", "ENSEMBL:ENSP00000258173.5"], "information_content": 100.0}
{"id": "UniProtKB:O43237-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoplasmic dynein 1 light intermediate chain 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43237-1", "PR:O43237-1", "ENSEMBL:ENSP00000258198", "ENSEMBL:ENSP00000258198.2"], "information_content": 100.0}
{"id": "NCBIGene:29109", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FHOD1", "equivalent_identifiers": ["NCBIGene:29109", "ENSEMBL:ENSG00000135723", "HGNC:17905", "OMIM:606881", "UMLS:C1425164", "UniProtKB:A0A068F7M9", "UMLS:C0769323", "MESH:C120021", "UniProtKB:Q9Y613", "PR:Q9Y613", "ENSEMBL:ENSP00000258201", "ENSEMBL:ENSP00000258201.4"], "information_content": 90.9}
{"id": "NCBIGene:92922", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC102A", "equivalent_identifiers": ["NCBIGene:92922", "ENSEMBL:ENSG00000135736", "HGNC:28097", "UMLS:C1824629", "UniProtKB:Q96A19", "PR:Q96A19", "ENSEMBL:ENSP00000258214", "ENSEMBL:ENSP00000258214.2"], "information_content": 100.0}
{"id": "MONDO:0001687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetic cataract", "equivalent_identifiers": ["MONDO:0001687", "DOID:13328", "UMLS:C0011876", "MEDDRA:10007749", "MEDDRA:10012648", "SNOMEDCT:43959009", "medgen:507634", "icd11.foundation:340836242", "ICD9:366.41"], "information_content": 100.0}
{"id": "MONDO:0014384", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 12", "equivalent_identifiers": ["MONDO:0014384", "DOID:0110709", "OMIM:615885", "UMLS:C4014563", "medgen:863000"], "information_content": 100.0}
{"id": "MONDO:0001794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pthirus pubis infestation", "equivalent_identifiers": ["MONDO:0001794", "DOID:13760", "UMLS:C0030759", "UMLS:C0277352", "MEDDRA:10034212", "MEDDRA:10037286", "NCIT:C35777", "SNOMEDCT:19690006", "SNOMEDCT:71011005", "medgen:10616", "ICD10:B85.3", "ICD9:132.2"], "information_content": 100.0}
{"id": "MONDO:0009194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 32B", "equivalent_identifiers": ["MONDO:0009194", "DOID:0111985", "OMIM:226990", "orphanet:2566", "UMLS:C4016741", "UMLS:C4751209", "SNOMEDCT:773738009", "medgen:865178"], "information_content": 100.0}
{"id": "UniProtKB:A6NKB5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pecanex-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NKB5-1", "PR:A6NKB5-1", "ENSEMBL:ENSP00000258229", "ENSEMBL:ENSP00000258229.8"], "information_content": 100.0}
{"id": "MONDO:0013292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 4q21 deletion syndrome", "equivalent_identifiers": ["MONDO:0013292", "DOID:0060420", "OMIM:613509", "orphanet:238750", "UMLS:C3150756", "UMLS:C4304530", "SNOMEDCT:719660008", "medgen:462106"], "information_content": 100.0}
{"id": "MONDO:0005822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "latent syphilis", "equivalent_identifiers": ["MONDO:0005822", "DOID:9531", "EFO:0007340", "UMLS:C0039133", "MESH:D013592", "MEDDRA:10024026", "MEDDRA:10070738", "NCIT:C35056", "SNOMEDCT:444150000", "medgen:21056", "ICD10:A53.0", "ICD9:097.1"], "information_content": 92.8}
{"id": "UniProtKB:O43752-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43752-1", "PR:O43752-1", "ENSEMBL:ENSP00000258301", "ENSEMBL:ENSP00000258301.5"], "information_content": 100.0}
{"id": "UniProtKB:P57771-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P57771-2", "PR:P57771-2", "ENSEMBL:ENSP00000258302", "ENSEMBL:ENSP00000258302.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXD5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetylneuraminate lyase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXD5-1", "PR:Q9BXD5-1", "ENSEMBL:ENSP00000258317", "ENSEMBL:ENSP00000258317.2", "ENSEMBL:ENSP00000356524", "ENSEMBL:ENSP00000356524.1"], "information_content": 100.0}
{"id": "MONDO:0013327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary hyperoxaluria type 3", "equivalent_identifiers": ["MONDO:0013327", "DOID:0111672", "OMIM:613616", "orphanet:93600", "UMLS:C3150878", "NCIT:C123214", "SNOMEDCT:734990008", "medgen:462228"], "information_content": 100.0}
{"id": "NCBIGene:3915", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LAMC1", "equivalent_identifiers": ["NCBIGene:3915", "ENSEMBL:ENSG00000135862", "HGNC:6492", "OMIM:150290", "UMLS:C1416785", "UniProtKB:P11047", "PR:P11047", "ENSEMBL:ENSP00000258341", "ENSEMBL:ENSP00000258341.3", "UMLS:C1568423", "UniProtKB:Q6NVY8"], "information_content": 80.2}
{"id": "UniProtKB:Q9HB58-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Sp110 nuclear body protein isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q9HB58-6", "PR:Q9HB58-6", "ENSEMBL:ENSP00000258381", "ENSEMBL:ENSP00000258381.6"], "information_content": 100.0}
{"id": "MONDO:0019514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatic veno-occlusive disease", "equivalent_identifiers": ["MONDO:0019514", "DOID:0080177", "orphanet:890", "UMLS:C0019156", "MESH:D006504", "MEDDRA:10047216", "MEDDRA:10047217", "MEDDRA:10063675", "MEDDRA:10084397", "NCIT:C26793", "SNOMEDCT:65617004", "medgen:5514", "icd11.foundation:762044088", "ICD10:K76.5", "HP:6000716"], "information_content": 95.4}
{"id": "NCBIGene:65080", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL44", "equivalent_identifiers": ["NCBIGene:65080", "ENSEMBL:ENSG00000135900", "HGNC:16650", "OMIM:611849", "UMLS:C1424465", "UniProtKB:Q9H9J2", "PR:Q9H9J2", "ENSEMBL:ENSP00000258383", "ENSEMBL:ENSP00000258383.3", "UMLS:C3711252", "MESH:C584516"], "information_content": 95.4}
{"id": "MONDO:0022697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "athetoid cerebral palsy", "equivalent_identifiers": ["MONDO:0022697", "DOID:0050672", "UMLS:C0270742", "MEDDRA:10068804", "MEDDRA:10086398", "NCIT:C97169", "SNOMEDCT:230780007", "SNOMEDCT:75019001", "medgen:82853", "HP:0011445"], "information_content": 100.0}
{"id": "MONDO:0014020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 55", "equivalent_identifiers": ["MONDO:0014020", "DOID:0110807", "OMIM:615035", "orphanet:320375", "EFO:0009040", "UMLS:C3539506", "SNOMEDCT:723825006", "medgen:761342"], "information_content": 100.0}
{"id": "UniProtKB:Q07001-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetylcholine receptor subunit delta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q07001-1", "PR:Q07001-1", "ENSEMBL:ENSP00000258385", "ENSEMBL:ENSP00000258385.3"], "information_content": 100.0}
{"id": "MONDO:0017415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple pterygium syndrome", "equivalent_identifiers": ["MONDO:0017415", "DOID:0080110", "orphanet:294060", "UMLS:C5848053", "MESH:C537377", "SNOMEDCT:205819008", "medgen:1852087", "icd11.foundation:834369371"], "information_content": 86.3}
{"id": "MONDO:0009761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystic hygroma", "equivalent_identifiers": ["MONDO:0009761", "DOID:3081", "OMIM:257350", "EFO:1000888", "UMLS:C0206620", "MESH:D018191", "MEDDRA:10011769", "MEDDRA:10020543", "MEDDRA:10058949", "NCIT:C3724", "SNOMEDCT:399882002", "SNOMEDCT:40225001", "SNOMEDCT:423984004", "medgen:60195", "HP:0000476"], "information_content": 90.9}
{"id": "MONDO:0009688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myasthenia gravis", "equivalent_identifiers": ["MONDO:0009688", "DOID:437", "OMIM:254200", "orphanet:589", "EFO:0004991", "UMLS:C0026896", "UMLS:C1260409", "MESH:D009157", "MEDDRA:10028417", "MEDDRA:10028420", "NCIT:C60989", "SNOMEDCT:91637004", "medgen:7764", "icd11.foundation:1270100227", "ICD10:G70.0", "ICD10:G70.00", "ICD9:358.0", "ICD9:358.00"], "information_content": 82.1}
{"id": "MONDO:0014028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal arthrogryposis type 5D", "equivalent_identifiers": ["MONDO:0014028", "DOID:0111594", "OMIM:615065", "orphanet:329457", "UMLS:C3554415", "SNOMEDCT:773396009", "medgen:767329"], "information_content": 100.0}
{"id": "UniProtKB:Q86T82-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 37 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86T82-1", "PR:Q86T82-1", "ENSEMBL:ENSP00000258399", "ENSEMBL:ENSP00000258399.3", "ENSEMBL:ENSP00000393662", "ENSEMBL:ENSP00000393662.1", "ENSEMBL:ENSP00000396585", "ENSEMBL:ENSP00000396585.1"], "information_content": 100.0}
{"id": "NCBIGene:3357", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTR2B", "equivalent_identifiers": ["NCBIGene:3357", "ENSEMBL:ENSG00000135914", "HGNC:5294", "OMIM:601122", "UMLS:C1415810", "UniProtKB:P41595", "PR:P41595", "ENSEMBL:ENSP00000258400", "ENSEMBL:ENSP00000258400.3", "UMLS:C4742564", "MESH:C000628501"], "information_content": 100.0}
{"id": "NCBIGene:80326", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT10A", "equivalent_identifiers": ["NCBIGene:80326", "ENSEMBL:ENSG00000135925", "HGNC:13829", "OMIM:606268", "UMLS:C1422222", "UniProtKB:A0A2K8FR47", "UniProtKB:Q9GZT5", "PR:Q9GZT5", "ENSEMBL:ENSP00000258411", "ENSEMBL:ENSP00000258411.3", "UMLS:C1435775", "MESH:C484142"], "information_content": 86.3}
{"id": "NCBIGene:1593", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP27A1", "equivalent_identifiers": ["NCBIGene:1593", "ENSEMBL:ENSG00000135929", "HGNC:2605", "OMIM:606530", "UMLS:C1413864", "UniProtKB:Q02318", "PR:Q02318", "ENSEMBL:ENSP00000258415", "ENSEMBL:ENSP00000258415.4", "UMLS:C1312672", "UMLS:C3538880", "MESH:C506831"], "information_content": 88.2}
{"id": "UniProtKB:O60573-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 4E type 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60573-1", "PR:O60573-1", "ENSEMBL:ENSP00000258416", "ENSEMBL:ENSP00000258416.3"], "information_content": 100.0}
{"id": "NCBIGene:51719", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAB39", "equivalent_identifiers": ["NCBIGene:51719", "ENSEMBL:ENSG00000135932", "HGNC:20292", "OMIM:612174", "UMLS:C1538427", "UniProtKB:Q9Y376", "PR:Q9Y376", "ENSEMBL:ENSP00000258418", "ENSEMBL:ENSP00000258418.5", "ENSEMBL:ENSP00000386238", "ENSEMBL:ENSP00000386238.3", "ENSEMBL:ENSP00000386642", "ENSEMBL:ENSP00000386642.3", "UMLS:C2715758", "MESH:C540569"], "information_content": 95.4}
{"id": "NCBIGene:1329", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX5B", "equivalent_identifiers": ["NCBIGene:1329", "ENSEMBL:ENSG00000135940", "HGNC:2269", "OMIM:123866", "UMLS:C1413638", "UniProtKB:A0A384NL93", "UMLS:C1433175", "MESH:C480024", "UniProtKB:P10606", "PR:P10606", "ENSEMBL:ENSP00000258424", "ENSEMBL:ENSP00000258424.2", "ENSEMBL:ENSP00000517083", "ENSEMBL:ENSP00000517083.1"], "information_content": 87.2}
{"id": "UniProtKB:Q9UBZ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA repair protein REV1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBZ9-1", "PR:Q9UBZ9-1", "ENSEMBL:ENSP00000258428", "ENSEMBL:ENSP00000258428.3"], "information_content": 100.0}
{"id": "NCBIGene:55654", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM127", "equivalent_identifiers": ["NCBIGene:55654", "ENSEMBL:ENSG00000135956", "HGNC:26038", "OMIM:613403", "UMLS:C1823386", "UniProtKB:C9J4H2", "ENSEMBL:ENSP00000411810", "ENSEMBL:ENSP00000411810.1", "ENSEMBL:ENSP00000519053", "ENSEMBL:ENSP00000519053.1", "ENSEMBL:ENSP00000519054", "ENSEMBL:ENSP00000519054.1", "UniProtKB:O75204", "PR:O75204", "ENSEMBL:ENSP00000258439", "ENSEMBL:ENSP00000258439.3", "ENSEMBL:ENSP00000416660", "ENSEMBL:ENSP00000416660.1", "UMLS:C2932978", "UMLS:C2987485", "MESH:C548370"], "information_content": 95.4}
{"id": "MONDO:0006288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant adrenal gland pheochromocytoma", "equivalent_identifiers": ["MONDO:0006288", "DOID:0080347", "EFO:1000348", "UMLS:C0334419", "MEDDRA:10051710", "NCIT:C4220", "SNOMEDCT:21851000119103", "SNOMEDCT:29370006", "medgen:87238"], "information_content": 90.9}
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{"id": "MONDO:0002360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondroma", "equivalent_identifiers": ["MONDO:0002360", "DOID:2602", "UMLS:C0936248", "UMLS:C1704356", "MESH:D002812", "MEDDRA:10008725", "MEDDRA:10069069", "NCIT:C3007", "NCIT:C53459", "SNOMEDCT:31186001", "SNOMEDCT:423699002", "medgen:181701", "HP:0030038"], "information_content": 83.6}
{"id": "MONDO:0004236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenal somatostatinoma", "equivalent_identifiers": ["MONDO:0004236", "DOID:7479", "UMLS:C1333320", "NCIT:C27407", "medgen:234205"], "information_content": 100.0}
{"id": "MONDO:0018327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glomus tumor", "equivalent_identifiers": ["MONDO:0018327", "DOID:2431", "orphanet:391651", "UMLS:C0017653", "MESH:D005918", "MEDDRA:10018380", "MEDDRA:10018381", "NCIT:C3060", "SNOMEDCT:403969002", "medgen:4903"], "information_content": 79.3}
{"id": "MONDO:0006639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal cortex carcinoma", "equivalent_identifiers": ["MONDO:0006639", "DOID:3948", "DOID:3959", "DOID:660", "orphanet:1501", "EFO:1000796", "UMLS:C0206686", "MEDDRA:10001326", "MEDDRA:10001327", "MEDDRA:10001388", "MEDDRA:10007285", "MEDDRA:10055076", "NCIT:C9325", "SNOMEDCT:2227007", "SNOMEDCT:255035007", "medgen:104917", "ICD10:C74.0", "HP:0006744"], "information_content": 75.3}
{"id": "UniProtKB:Q9UNE0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member EDAR isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNE0-1", "PR:Q9UNE0-1", "ENSEMBL:ENSP00000258443", "ENSEMBL:ENSP00000258443.2"], "information_content": 100.0}
{"id": "MONDO:0012195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis-severe scoliosis syndrome", "equivalent_identifiers": ["MONDO:0012195", "DOID:0111610", "OMIM:609128", "orphanet:65720", "UMLS:C1836756", "MESH:C563791", "SNOMEDCT:715575001", "medgen:373169"], "information_content": 100.0}
{"id": "MONDO:0008397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aplasia of lacrimal and salivary glands", "equivalent_identifiers": ["MONDO:0008397", "DOID:0111549", "OMIM:180920", "orphanet:86815", "UMLS:C0158667", "UMLS:C1867059", "MESH:C562407", "MESH:C566702", "MEDDRA:10000328", "SNOMEDCT:22589009", "SNOMEDCT:715656004", "medgen:57641", "icd11.foundation:539255304", "ICD9:750.21"], "information_content": 100.0}
{"id": "NCBIGene:64965", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPS9", "equivalent_identifiers": ["NCBIGene:64965", "ENSEMBL:ENSG00000135972", "HGNC:14501", "OMIM:611975", "UMLS:C1422707", "UniProtKB:P82933", "PR:P82933", "ENSEMBL:ENSP00000258455", "ENSEMBL:ENSP00000258455.3"], "information_content": 100.0}
{"id": "MONDO:0011408", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 10", "equivalent_identifiers": ["MONDO:0011408", "DOID:0110763", "OMIM:604187", "orphanet:100991", "UMLS:C1858712", "MESH:C537482", "NCIT:C192058", "SNOMEDCT:732948003", "medgen:349003"], "information_content": 100.0}
{"id": "NCBIGene:11250", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR45", "equivalent_identifiers": ["NCBIGene:11250", "ENSEMBL:ENSG00000135973", "HGNC:4503", "OMIM:604838", "UMLS:C1415239", "UniProtKB:B5B0C1", "UMLS:C1448713", "MESH:C483540", "UniProtKB:Q9Y5Y3", "PR:Q9Y5Y3", "ENSEMBL:ENSP00000258456", "ENSEMBL:ENSP00000258456.1"], "information_content": 100.0}
{"id": "MONDO:0956980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vascular parkinsonism", "equivalent_identifiers": ["MONDO:0956980", "DOID:0080856", "UMLS:C0393568", "MEDDRA:10068100", "NCIT:C195932", "SNOMEDCT:230296006", "medgen:581453", "icd11.foundation:1852145464"], "information_content": 100.0}
{"id": "UniProtKB:Q9BVC5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ashwin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVC5-1", "PR:Q9BVC5-1", "ENSEMBL:ENSP00000258457", "ENSEMBL:ENSP00000258457.2", "ENSEMBL:ENSP00000520835", "ENSEMBL:ENSP00000520835.1"], "information_content": 100.0}
{"id": "NCBIGene:26122", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPC2", "equivalent_identifiers": ["NCBIGene:26122", "ENSEMBL:ENSG00000135999", "HGNC:24543", "OMIM:611000", "UMLS:C1539360", "UniProtKB:Q52LR7", "PR:Q52LR7", "ENSEMBL:ENSP00000258484", "ENSEMBL:ENSP00000258484.6"], "information_content": 95.4}
{"id": "MONDO:0001783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endometrial stromal nodule", "equivalent_identifiers": ["MONDO:0001783", "DOID:1373", "EFO:1000241", "UMLS:C0334485", "UMLS:C4284031", "NCIT:C4262", "SNOMEDCT:70971005", "SNOMEDCT:721571001", "medgen:90790"], "information_content": 88.2}
{"id": "UniProtKB:Q3SY69-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q3SY69-1", "PR:Q3SY69-1", "ENSEMBL:ENSP00000258494", "ENSEMBL:ENSP00000258494.9"], "information_content": 100.0}
{"id": "NCBIGene:84101", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP44", "equivalent_identifiers": ["NCBIGene:84101", "ENSEMBL:ENSG00000136014", "HGNC:20064", "OMIM:610993", "UMLS:C1426652", "UniProtKB:F8VRI7", "ENSEMBL:ENSP00000448670", "ENSEMBL:ENSP00000448670.1", "UniProtKB:Q9H0E7", "PR:Q9H0E7", "ENSEMBL:ENSP00000258499", "ENSEMBL:ENSP00000258499.3", "ENSEMBL:ENSP00000376806", "ENSEMBL:ENSP00000376806.2", "ENSEMBL:ENSP00000442629", "ENSEMBL:ENSP00000442629.2", "UMLS:C3669265", "MESH:C579216"], "information_content": 100.0}
{"id": "NCBIGene:10154", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLXNC1", "equivalent_identifiers": ["NCBIGene:10154", "ENSEMBL:ENSG00000136040", "HGNC:9106", "OMIM:604259", "UMLS:C1418667", "UniProtKB:O60486", "PR:O60486", "ENSEMBL:ENSP00000258526", "ENSEMBL:ENSP00000258526.4", "UMLS:C3812286"], "information_content": 82.6}
{"id": "UniProtKB:Q8N682-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA damage-regulated autophagy modulator protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N682-1", "PR:Q8N682-1", "ENSEMBL:ENSP00000258534", "ENSEMBL:ENSP00000258534.8"], "information_content": 100.0}
{"id": "MONDO:0011697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 2C", "equivalent_identifiers": ["MONDO:0011697", "DOID:0110951", "OMIM:606662", "UMLS:C1847722", "MESH:C564684", "medgen:335755"], "information_content": 100.0}
{"id": "NCBIGene:84102", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC41A2", "equivalent_identifiers": ["NCBIGene:84102", "ENSEMBL:ENSG00000136052", "HGNC:31045", "OMIM:610802", "UMLS:C1429059", "UniProtKB:Q96JW4", "PR:Q96JW4", "ENSEMBL:ENSP00000258538", "ENSEMBL:ENSP00000258538.3"], "information_content": 92.8}
{"id": "UniProtKB:Q9NS62-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thrombospondin type-1 domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NS62-1", "PR:Q9NS62-1", "ENSEMBL:ENSP00000258613", "ENSEMBL:ENSP00000258613.4"], "information_content": 100.0}
{"id": "MONDO:0016820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Moyamoya disease", "equivalent_identifiers": ["MONDO:0016820", "DOID:13099", "OMIM.PS:252350", "orphanet:2573", "UMLS:C0026654", "MESH:D009072", "MEDDRA:10028047", "MEDDRA:10067590", "NCIT:C84895", "SNOMEDCT:89142007", "medgen:7726", "icd11.foundation:1746892088", "icd11.foundation:369231682", "ICD10:I67.5", "ICD9:437.5"], "information_content": 86.3}
{"id": "UniProtKB:Q9NPJ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPJ6-1", "PR:Q9NPJ6-1", "ENSEMBL:ENSP00000258648", "ENSEMBL:ENSP00000258648.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96JB2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "conserved oligomeric Golgi complex subunit 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JB2-1", "PR:Q96JB2-1", "ENSEMBL:ENSP00000258654", "ENSEMBL:ENSP00000258654.8"], "information_content": 100.0}
{"id": "NCBIGene:55270", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUDT15", "equivalent_identifiers": ["NCBIGene:55270", "ENSEMBL:ENSG00000136159", "HGNC:23063", "OMIM:615792", "UMLS:C1427884", "UniProtKB:Q9NV35", "PR:Q9NV35", "ENSEMBL:ENSP00000258662", "ENSEMBL:ENSP00000258662.1", "UMLS:C2743282", "MESH:C543721"], "information_content": 100.0}
{"id": "UniProtKB:O00425-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "insulin-like growth factor 2 mRNA-binding protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00425-1", "PR:O00425-1", "ENSEMBL:ENSP00000258729", "ENSEMBL:ENSP00000258729.3"], "information_content": 100.0}
{"id": "UniProtKB:P33947-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ER lumen protein-retaining receptor 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P33947-1", "PR:P33947-1", "ENSEMBL:ENSP00000258739", "ENSEMBL:ENSP00000258739.4"], "information_content": 100.0}
{"id": "UniProtKB:O15504-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoporin NUP42 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15504-1", "PR:O15504-1", "ENSEMBL:ENSP00000258742", "ENSEMBL:ENSP00000258742.5"], "information_content": 100.0}
{"id": "UniProtKB:Q969Z0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FAST kinase domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969Z0-1", "PR:Q969Z0-1", "ENSEMBL:ENSP00000258770", "ENSEMBL:ENSP00000258770.3", "ENSEMBL:ENSP00000420597", "ENSEMBL:ENSP00000420597.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY93-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable ATP-dependent RNA helicase DDX56 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY93-1", "PR:Q9NY93-1", "ENSEMBL:ENSP00000258772", "ENSEMBL:ENSP00000258772.5"], "information_content": 100.0}
{"id": "UniProtKB:O60921-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "checkpoint protein HUS1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60921-1", "PR:O60921-1", "ENSEMBL:ENSP00000258774", "ENSEMBL:ENSP00000258774.5"], "information_content": 100.0}
{"id": "UniProtKB:B0I1T2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-Ig isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:B0I1T2-1", "PR:B0I1T2-1", "ENSEMBL:ENSP00000258787", "ENSEMBL:ENSP00000258787.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0H2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein tweety homolog 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0H2-1", "PR:Q9C0H2-1", "ENSEMBL:ENSP00000258796", "ENSEMBL:ENSP00000258796.7"], "information_content": 100.0}
{"id": "NCBIGene:91875", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTC5", "equivalent_identifiers": ["NCBIGene:91875", "ENSEMBL:ENSG00000136319", "HGNC:19274", "OMIM:619014", "UMLS:C1426138", "UniProtKB:Q86T04", "UMLS:C3180523", "MESH:C557280", "UniProtKB:Q8N0Z6", "PR:Q8N0Z6", "ENSEMBL:ENSP00000258821", "ENSEMBL:ENSP00000258821.3", "ENSEMBL:ENSP00000517308", "ENSEMBL:ENSP00000517308.1"], "information_content": 89.4}
{"id": "MONDO:0006930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudobulbar palsy", "equivalent_identifiers": ["MONDO:0006930", "DOID:12680", "EFO:1001131", "UMLS:C0033790", "MESH:D020828", "MEDDRA:10037114", "MEDDRA:10052888", "NCIT:C129934", "SNOMEDCT:7379000", "medgen:10989", "ICD9:335.23", "HP:0007024"], "information_content": 100.0}
{"id": "NCBIGene:26257", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKX2-8", "equivalent_identifiers": ["NCBIGene:26257", "ENSEMBL:ENSG00000136327", "HGNC:16364", "OMIM:603245", "UMLS:C1424218", "UniProtKB:O15522", "PR:O15522", "ENSEMBL:ENSP00000258829", "ENSEMBL:ENSP00000258829.4", "UMLS:C1334041", "UMLS:C1435062", "MESH:C108070"], "information_content": 100.0}
{"id": "MONDO:0003427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchus adenoma", "equivalent_identifiers": ["MONDO:0003427", "DOID:5391", "UMLS:C0149845", "UMLS:C1305409", "NCIT:C3494", "NCIT:C7559", "SNOMEDCT:24482001", "medgen:56206"], "information_content": 92.8}
{"id": "NCBIGene:23205", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACSBG1", "equivalent_identifiers": ["NCBIGene:23205", "ENSEMBL:ENSG00000103740", "HGNC:29567", "OMIM:614362", "UMLS:C1825836", "UniProtKB:B3KNS7", "UMLS:C5828647", "MESH:C000726889", "UniProtKB:B7Z2Y6", "UniProtKB:Q96GR2", "PR:Q96GR2", "ENSEMBL:ENSP00000258873", "ENSEMBL:ENSP00000258873.4"], "information_content": 100.0}
{"id": "MONDO:0003372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvar leiomyosarcoma", "equivalent_identifiers": ["MONDO:0003372", "DOID:5286", "EFO:1001975", "UMLS:C2168304", "NCIT:C40318", "medgen:378348"], "information_content": 100.0}
{"id": "UniProtKB:P49914-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-formyltetrahydrofolate cyclo-ligase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49914-1", "PR:P49914-1", "ENSEMBL:ENSP00000258874", "ENSEMBL:ENSP00000258874.4"], "information_content": 100.0}
{"id": "MONDO:0019571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant cutis laxa", "equivalent_identifiers": ["MONDO:0019571", "DOID:0070142", "orphanet:90348", "UMLS:C0268350", "MESH:C562627", "SNOMEDCT:111388003", "medgen:120630", "icd11.foundation:720393698"], "information_content": 90.9}
{"id": "MONDO:0002281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocytic anemia", "equivalent_identifiers": ["MONDO:0002281", "DOID:2361", "UMLS:C0002886", "MESH:D000748", "MEDDRA:10002064", "MEDDRA:10002297", "MEDDRA:10025380", "MEDDRA:10025381", "MEDDRA:10074043", "NCIT:C34381", "SNOMEDCT:83414005", "medgen:1920", "HP:0001972"], "information_content": 82.6}
{"id": "MONDO:0009579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Frank-Ter Haar syndrome", "equivalent_identifiers": ["MONDO:0009579", "DOID:0111789", "OMIM:249420", "orphanet:137834", "UMLS:C1855305", "MESH:C536577", "MESH:C537274", "SNOMEDCT:720958002", "medgen:383652", "icd11.foundation:1643548765"], "information_content": 100.0}
{"id": "UniProtKB:P48200-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "iron-responsive element-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48200-1", "PR:P48200-1", "ENSEMBL:ENSP00000258886", "ENSEMBL:ENSP00000258886.8"], "information_content": 100.0}
{"id": "MONDO:0012867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 38", "equivalent_identifiers": ["MONDO:0012867", "DOID:0110789", "OMIM:612335", "orphanet:171617", "UMLS:C2676732", "MESH:C567349", "SNOMEDCT:783622001", "medgen:436764"], "information_content": 100.0}
{"id": "NCBIGene:57538", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALPK3", "equivalent_identifiers": ["NCBIGene:57538", "ENSEMBL:ENSG00000136383", "HGNC:17574", "OMIM:617608", "UMLS:C1538267", "UniProtKB:Q96L96", "PR:Q96L96", "ENSEMBL:ENSP00000258888", "ENSEMBL:ENSP00000258888.6", "UMLS:C4506712", "MESH:C000618184"], "information_content": 100.0}
{"id": "UniProtKB:O75838-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium and integrin-binding family member 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75838-1", "PR:O75838-1", "ENSEMBL:ENSP00000258930", "ENSEMBL:ENSP00000258930.3"], "information_content": 100.0}
{"id": "MONDO:0012984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PHARC syndrome", "equivalent_identifiers": ["MONDO:0012984", "DOID:0080181", "OMIM:612674", "orphanet:171848", "UMLS:C2675204", "UMLS:C4509920", "MESH:C567203", "SNOMEDCT:723452007", "medgen:436373"], "information_content": 100.0}
{"id": "UniProtKB:Q07955-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/arginine-rich splicing factor 1 isoform ASF-1 (human)", "equivalent_identifiers": ["UniProtKB:Q07955-1", "PR:Q07955-1", "ENSEMBL:ENSP00000258962", "ENSEMBL:ENSP00000258962.4"], "information_content": 100.0}
{"id": "NCBIGene:1101", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHAD", "equivalent_identifiers": ["NCBIGene:1101", "ENSEMBL:ENSG00000136457", "HGNC:1909", "OMIM:602178", "UMLS:C1413373", "UniProtKB:O15335", "PR:O15335", "ENSEMBL:ENSP00000258969", "ENSEMBL:ENSP00000258969.4", "ENSEMBL:ENSP00000423812", "ENSEMBL:ENSP00000423812.1"], "information_content": 100.0}
{"id": "NCBIGene:51204", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TACO1", "equivalent_identifiers": ["NCBIGene:51204", "ENSEMBL:ENSG00000136463", "HGNC:24316", "OMIM:612958", "UMLS:C1824568", "UniProtKB:Q9BSH4", "PR:Q9BSH4", "ENSEMBL:ENSP00000258975", "ENSEMBL:ENSP00000258975.6"], "information_content": 100.0}
{"id": "MONDO:0009069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type", "equivalent_identifiers": ["MONDO:0009069", "DOID:0111180", "OMIM:220111", "orphanet:70472", "UMLS:C1857355", "MESH:C537004", "SNOMEDCT:718219002", "medgen:387801"], "information_content": 100.0}
{"id": "MONDO:0010799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness, aminoglycoside-induced", "equivalent_identifiers": ["MONDO:0010799", "DOID:0111734", "OMIM:580000", "UMLS:C1838854", "MESH:C564013", "medgen:374074"], "information_content": 100.0}
{"id": "MONDO:0012512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3", "equivalent_identifiers": ["MONDO:0012512", "DOID:0111486", "OMIM:610505", "orphanet:168566", "UMLS:C1864840", "UMLS:C4303760", "MESH:C566467", "SNOMEDCT:720951008", "medgen:355842"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWB9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis-expressed protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWB9-2", "PR:Q8IWB9-2", "ENSEMBL:ENSP00000258991", "ENSEMBL:ENSP00000258991.3"], "information_content": 100.0}
{"id": "NCBIGene:80774", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIMD2", "equivalent_identifiers": ["NCBIGene:80774", "ENSEMBL:ENSG00000136490", "HGNC:28142", "UMLS:C1825818", "UniProtKB:A0A140VJN0", "UMLS:C5196725", "MESH:C000629939", "UniProtKB:Q9BT23", "PR:Q9BT23", "ENSEMBL:ENSP00000259006", "ENSEMBL:ENSP00000259006.3", "ENSEMBL:ENSP00000462707", "ENSEMBL:ENSP00000462707.1", "ENSEMBL:ENSP00000464003", "ENSEMBL:ENSP00000464003.1"], "information_content": 90.9}
{"id": "UniProtKB:Q9BX63-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fanconi anemia group J protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BX63-1", "PR:Q9BX63-1", "ENSEMBL:ENSP00000259008", "ENSEMBL:ENSP00000259008.2", "ENSEMBL:ENSP00000506943", "ENSEMBL:ENSP00000506943.1", "ENSEMBL:ENSP00000508303", "ENSEMBL:ENSP00000508303.1"], "information_content": 100.0}
{"id": "MONDO:0009955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rapadilino syndrome", "equivalent_identifiers": ["MONDO:0009955", "DOID:0050774", "OMIM:266280", "orphanet:3021", "UMLS:C1849453", "MESH:C535288", "MEDDRA:10088963", "SNOMEDCT:702413000", "medgen:336602", "icd11.foundation:1439614760"], "information_content": 100.0}
{"id": "UniProtKB:O95251-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone acetyltransferase KAT7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95251-1", "PR:O95251-1", "ENSEMBL:ENSP00000259021", "ENSEMBL:ENSP00000259021.4"], "information_content": 100.0}
{"id": "NCBIGene:64108", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTP4", "equivalent_identifiers": ["NCBIGene:64108", "ENSEMBL:ENSG00000136514", "HGNC:23992", "OMIM:609350", "UMLS:C1826954", "UniProtKB:Q96DX8", "PR:Q96DX8", "ENSEMBL:ENSP00000259030", "ENSEMBL:ENSP00000259030.2", "ENSEMBL:ENSP00000517060", "ENSEMBL:ENSP00000517060.1"], "information_content": 95.4}
{"id": "UniProtKB:O43674-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43674-1", "PR:O43674-1", "ENSEMBL:ENSP00000259037", "ENSEMBL:ENSP00000259037.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IX05-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD302 antigen isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IX05-1", "PR:Q8IX05-1", "ENSEMBL:ENSP00000259053", "ENSEMBL:ENSP00000259053.4"], "information_content": 100.0}
{"id": "NCBIGene:11227", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GALNT5", "equivalent_identifiers": ["NCBIGene:11227", "ENSEMBL:ENSG00000136542", "HGNC:4127", "OMIM:615129", "UMLS:C1414955", "UniProtKB:Q7Z7M9", "PR:Q7Z7M9", "ENSEMBL:ENSP00000259056", "ENSEMBL:ENSP00000259056.4", "UMLS:C2003000", "MESH:C000727973"], "information_content": 90.9}
{"id": "MONDO:0001714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bejel", "equivalent_identifiers": ["MONDO:0001714", "DOID:13431", "UMLS:C0004945", "MEDDRA:10083964", "SNOMEDCT:240686008", "medgen:2569"], "information_content": 100.0}
{"id": "UniProtKB:Q92844-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TRAF family member-associated NF-kappa-B activator isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q92844-1", "PR:Q92844-1", "ENSEMBL:ENSP00000259075", "ENSEMBL:ENSP00000259075.2", "ENSEMBL:ENSP00000376505", "ENSEMBL:ENSP00000376505.2"], "information_content": 100.0}
{"id": "NCBIGene:640", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BLK", "equivalent_identifiers": ["NCBIGene:640", "ENSEMBL:ENSG00000136573", "HGNC:1057", "OMIM:191305", "UMLS:C1332419", "UniProtKB:P51451", "PR:P51451", "ENSEMBL:ENSP00000259089", "ENSEMBL:ENSP00000259089.4", "ENSEMBL:ENSP00000494522", "ENSEMBL:ENSP00000494522.3", "UMLS:C3713783", "MESH:C584409", "UniProtKB:Q05D26"], "information_content": 88.2}
{"id": "UniProtKB:Q9Y597-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein KCTD3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y597-1", "PR:Q9Y597-1", "ENSEMBL:ENSP00000259154", "ENSEMBL:ENSP00000259154.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZH8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-36 gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZH8-1", "PR:Q9NZH8-1", "ENSEMBL:ENSP00000259205", "ENSEMBL:ENSP00000259205.3"], "information_content": 100.0}
{"id": "UniProtKB:P18510-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-1 receptor antagonist protein isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:P18510-3", "PR:P18510-3", "ENSEMBL:ENSP00000259206", "ENSEMBL:ENSP00000259206.5"], "information_content": 100.0}
{"id": "NCBIGene:27179", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL36A", "equivalent_identifiers": ["NCBIGene:27179", "ENSEMBL:ENSG00000136694", "HGNC:15562", "OMIM:605509", "UMLS:C1423574", "UniProtKB:Q9UHA7", "PR:Q9UHA7", "ENSEMBL:ENSP00000259211", "ENSEMBL:ENSP00000259211.6", "UMLS:C1702301", "MESH:C508586"], "information_content": 100.0}
{"id": "NCBIGene:26525", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL36RN", "equivalent_identifiers": ["NCBIGene:26525", "ENSEMBL:ENSG00000136695", "HGNC:15561", "OMIM:605507", "UMLS:C1423573", "UniProtKB:Q9UBH0", "PR:Q9UBH0", "ENSEMBL:ENSP00000259212", "ENSEMBL:ENSP00000259212.3", "ENSEMBL:ENSP00000376896", "ENSEMBL:ENSP00000376896.2", "ENSEMBL:ENSP00000409262", "ENSEMBL:ENSP00000409262.2", "UMLS:C1438529", "MESH:C122187"], "information_content": 95.4}
{"id": "MONDO:0005771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "geographic tongue", "equivalent_identifiers": ["MONDO:0005771", "DOID:1455", "EFO:0007283", "UMLS:C0017677", "MESH:D005929", "MEDDRA:10018201", "MEDDRA:10024519", "MEDDRA:10043957", "MEDDRA:10079071", "NCIT:C84588", "SNOMEDCT:59032001", "medgen:6619", "icd11.foundation:1460387786", "ICD10:K14.1", "ICD9:529.1", "HP:0025252"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZH7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-36 beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZH7-1", "PR:Q9NZH7-1", "ENSEMBL:ENSP00000259213", "ENSEMBL:ENSP00000259213.4"], "information_content": 100.0}
{"id": "NCBIGene:55997", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFC1", "equivalent_identifiers": ["NCBIGene:55997", "ENSEMBL:ENSG00000136698", "HGNC:18292", "OMIM:605194", "UMLS:C1332788", "UniProtKB:A0A087WWV2", "ENSEMBL:ENSP00000480526", "ENSEMBL:ENSP00000480526.1", "UniProtKB:A0A087WX98", "ENSEMBL:ENSP00000480843", "ENSEMBL:ENSP00000480843.1", "UniProtKB:P0CG37", "PR:P0CG37", "ENSEMBL:ENSP00000259216", "ENSEMBL:ENSP00000259216.5", "UMLS:C1453297", "MESH:C491268"], "information_content": 100.0}
{"id": "MONDO:0009126", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenal atresia", "equivalent_identifiers": ["MONDO:0009126", "DOID:0080216", "OMIM:223400", "orphanet:1203", "UMLS:C0266174", "UMLS:C2930994", "MESH:C535720", "MEDDRA:10013812", "MEDDRA:10013813", "NCIT:C101025", "SNOMEDCT:51118003", "medgen:75602", "HP:0002247"], "information_content": 95.4}
{"id": "MONDO:0007838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jacobsen syndrome", "equivalent_identifiers": ["MONDO:0007838", "DOID:0111723", "OMIM:147791", "orphanet:2308", "UMLS:C0795841", "MESH:D054868", "MEDDRA:10089842", "NCIT:C75457", "SNOMEDCT:715438008", "medgen:162878", "icd11.foundation:27788176"], "information_content": 100.0}
{"id": "UniProtKB:Q96NT0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 115 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NT0-1", "PR:Q96NT0-1", "ENSEMBL:ENSP00000259229", "ENSEMBL:ENSP00000259229.2"], "information_content": 100.0}
{"id": "UniProtKB:O60243-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heparan-sulfate 6-O-sulfotransferase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60243-1", "PR:O60243-1", "ENSEMBL:ENSP00000259241", "ENSEMBL:ENSP00000259241.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYU2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucose:glycoprotein glucosyltransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYU2-1", "PR:Q9NYU2-1", "ENSEMBL:ENSP00000259253", "ENSEMBL:ENSP00000259253.6"], "information_content": 100.0}
{"id": "UniProtKB:P04921-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycophorin-C isoform Glycophorin-C (human)", "equivalent_identifiers": ["UniProtKB:P04921-1", "PR:P04921-1", "ENSEMBL:ENSP00000259254", "ENSEMBL:ENSP00000259254.4"], "information_content": 100.0}
{"id": "MONDO:0013946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 15 with or without anosmia", "equivalent_identifiers": ["MONDO:0013946", "DOID:0090075", "OMIM:614880", "UMLS:C3553977", "medgen:766891"], "information_content": 100.0}
{"id": "NCBIGene:56262", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC8A", "equivalent_identifiers": ["NCBIGene:56262", "ENSEMBL:ENSG00000136802", "HGNC:19027", "OMIM:608360", "UMLS:C1825876", "UniProtKB:A8K1C7", "UMLS:C1451789", "MESH:C485976", "UniProtKB:Q8IWT6", "PR:Q8IWT6", "ENSEMBL:ENSP00000259324", "ENSEMBL:ENSP00000259324.5", "ENSEMBL:ENSP00000361680", "ENSEMBL:ENSP00000361680.3", "ENSEMBL:ENSP00000361682", "ENSEMBL:ENSP00000361682.4", "UMLS:C5444213"], "information_content": 87.2}
{"id": "UniProtKB:J3KN16", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "J3KN16_HUMAN Proteasome adapter and scaffold protein ECM29 (trembl)", "equivalent_identifiers": ["UniProtKB:J3KN16", "ENSEMBL:ENSP00000259335", "ENSEMBL:ENSP00000259335.4"]}
{"id": "NCBIGene:27348", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOR1B", "equivalent_identifiers": ["NCBIGene:27348", "ENSEMBL:ENSG00000136816", "HGNC:11995", "OMIM:608050", "UMLS:C1420862", "UniProtKB:O14657", "PR:O14657", "ENSEMBL:ENSP00000259339", "ENSEMBL:ENSP00000259339.2", "UMLS:C1438786", "MESH:C491547"], "information_content": 92.8}
{"id": "MONDO:0007863", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kleine-Levin syndrome", "equivalent_identifiers": ["MONDO:0007863", "DOID:0060165", "OMIM:148840", "orphanet:33543", "EFO:1001354", "UMLS:C0206085", "MESH:D017593", "MEDDRA:10053712", "MEDDRA:10053742", "NCIT:C84800", "SNOMEDCT:111488004", "medgen:61511", "icd11.foundation:1180849398"], "information_content": 100.0}
{"id": "MONDO:0011441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex regional pain syndrome type 1", "equivalent_identifiers": ["MONDO:0011441", "DOID:1811", "OMIM:604335", "orphanet:99995", "EFO:1001147", "UMLS:C0034931", "MESH:D012019", "MEDDRA:10038249", "MEDDRA:10038253", "MEDDRA:10042442", "MEDDRA:10064334", "NCIT:C85042", "SNOMEDCT:50642008", "SNOMEDCT:734947007", "medgen:11159", "ICD10:G90.5", "ICD9:337.2"], "information_content": 100.0}
{"id": "MONDO:0020572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "causalgia", "equivalent_identifiers": ["MONDO:0020572", "DOID:3222", "orphanet:99994", "EFO:1000854", "UMLS:C0007462", "MESH:D002422", "MEDDRA:10007825", "MEDDRA:10064335", "NCIT:C121572", "SNOMEDCT:408751001", "medgen:2918"], "information_content": 100.0}
{"id": "UniProtKB:Q5JS13-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-specific guanine nucleotide-releasing factor RalGPS1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JS13-1", "PR:Q5JS13-1", "ENSEMBL:ENSP00000259351", "ENSEMBL:ENSP00000259351.5"], "information_content": 100.0}
{"id": "MONDO:0100294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex II deficiency, nuclear type 1", "equivalent_identifiers": ["MONDO:0100294", "DOID:0060537", "OMIM:252011", "orphanet:3208", "UMLS:C1291270", "UMLS:C1855008", "UMLS:C4020801", "UMLS:C4024705", "UMLS:C5700310", "MESH:C565375", "NCIT:C187258", "SNOMEDCT:124165006", "SNOMEDCT:237989003", "medgen:1814582", "ICD10:G71.3", "HP:0008314"], "information_content": 100.0}
{"id": "NCBIGene:347168", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR1J1", "equivalent_identifiers": ["NCBIGene:347168", "ENSEMBL:ENSG00000136834", "HGNC:8208", "UMLS:C1418000", "UniProtKB:A0A126GWP9", "UniProtKB:Q8NGS3", "PR:Q8NGS3", "ENSEMBL:ENSP00000259357", "ENSEMBL:ENSP00000259357.2"], "information_content": 100.0}
{"id": "UniProtKB:P28289-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tropomodulin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P28289-1", "PR:P28289-1", "ENSEMBL:ENSP00000259365", "ENSEMBL:ENSP00000259365.3", "ENSEMBL:ENSP00000378637", "ENSEMBL:ENSP00000378637.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5VWQ8-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disabled homolog 2-interacting protein isoform 5 (human)", "equivalent_identifiers": ["UniProtKB:Q5VWQ8-5", "PR:Q5VWQ8-5", "ENSEMBL:ENSP00000259371", "ENSEMBL:ENSP00000259371.2"], "information_content": 100.0}
{"id": "NCBIGene:1318", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC31A2", "equivalent_identifiers": ["NCBIGene:1318", "ENSEMBL:ENSG00000136867", "HGNC:11017", "OMIM:603088", "UMLS:C1420183", "UniProtKB:O15432", "PR:O15432", "ENSEMBL:ENSP00000259392", "ENSEMBL:ENSP00000259392.3", "UMLS:C2003198", "MESH:C524078", "UniProtKB:Q53X94"], "information_content": 95.4}
{"id": "NCBIGene:5004", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ORM1", "equivalent_identifiers": ["NCBIGene:5004", "ENSEMBL:ENSG00000229314", "HGNC:8498", "OMIM:138600", "UMLS:C1418186", "UniProtKB:P02763", "PR:P02763", "ENSEMBL:ENSP00000259396", "ENSEMBL:ENSP00000259396.8", "UMLS:C5391914", "MESH:C000708272"], "information_content": 73.2}
{"id": "NCBIGene:55014", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STX17", "equivalent_identifiers": ["NCBIGene:55014", "ENSEMBL:ENSG00000136874", "HGNC:11432", "OMIM:604204", "UMLS:C1420497", "UniProtKB:P56962", "PR:P56962", "ENSEMBL:ENSP00000259400", "ENSEMBL:ENSP00000259400.6", "ENSEMBL:ENSP00000433484", "ENSEMBL:ENSP00000433484.1", "ENSEMBL:ENSP00000435981", "ENSEMBL:ENSP00000435981.1", "UMLS:C2935732", "MESH:C551267"], "information_content": 95.4}
{"id": "NCBIGene:570", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BAAT", "equivalent_identifiers": ["NCBIGene:570", "ENSEMBL:ENSG00000136881", "HGNC:932", "OMIM:602938", "UMLS:C1412726", "UniProtKB:Q14032", "PR:Q14032", "ENSEMBL:ENSP00000259407", "ENSEMBL:ENSP00000259407.2", "ENSEMBL:ENSP00000378491", "ENSEMBL:ENSP00000378491.3", "ENSEMBL:ENSP00000484063", "ENSEMBL:ENSP00000484063.1", "ENSEMBL:ENSP00000501610", "ENSEMBL:ENSP00000501610.1", "UMLS:C1450922"], "information_content": 100.0}
{"id": "NCBIGene:9568", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABBR2", "equivalent_identifiers": ["NCBIGene:9568", "ENSEMBL:ENSG00000136928", "HGNC:4507", "OMIM:607340", "UMLS:C1846414", "UniProtKB:H9NIL8", "UniProtKB:O75899", "PR:O75899", "ENSEMBL:ENSP00000259455", "ENSEMBL:ENSP00000259455.2", "UMLS:C0766894", "MESH:C485503"], "information_content": 95.4}
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{"id": "UniProtKB:Q99436-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome subunit beta type-7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99436-1", "PR:Q99436-1", "ENSEMBL:ENSP00000259457", "ENSEMBL:ENSP00000259457.3"], "information_content": 100.0}
{"id": "NCBIGene:254973", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR1L4", "equivalent_identifiers": ["NCBIGene:254973", "ENSEMBL:ENSG00000136939", "HGNC:8216", "UMLS:C1418006", "UniProtKB:Q8NGR5", "PR:Q8NGR5", "ENSEMBL:ENSP00000259466", "ENSEMBL:ENSP00000259466.1"], "information_content": 100.0}
{"id": "MONDO:0015864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mixed germ cell tumor", "equivalent_identifiers": ["MONDO:0015864", "DOID:3306", "orphanet:180234", "UMLS:C0334524", "NCIT:C4290", "SNOMEDCT:1156452003", "SNOMEDCT:32844007", "medgen:87257"], "information_content": 76.4}
{"id": "UniProtKB:Q13371-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosducin-like protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13371-1", "PR:Q13371-1", "ENSEMBL:ENSP00000259467", "ENSEMBL:ENSP00000259467.4"], "information_content": 100.0}
{"id": "MONDO:0005361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophilic esophagitis", "equivalent_identifiers": ["MONDO:0005361", "DOID:13922", "EFO:0004232", "UMLS:C0341106", "MESH:D057765", "MEDDRA:10064212", "MEDDRA:10064220", "NCIT:C27105", "SNOMEDCT:235599003", "medgen:83318", "ICD10:K20.0", "ICD9:530.13"], "information_content": 90.9}
{"id": "NCBIGene:11224", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL35", "equivalent_identifiers": ["NCBIGene:11224", "ENSEMBL:ENSG00000136942", "HGNC:10344", "OMIM:618315", "UMLS:C1419667", "UniProtKB:P42766", "PR:P42766", "ENSEMBL:ENSP00000259469", "ENSEMBL:ENSP00000259469.4"], "information_content": 89.4}
{"id": "NCBIGene:1515", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTSV", "equivalent_identifiers": ["NCBIGene:1515", "ENSEMBL:ENSG00000136943", "HGNC:2538", "OMIM:603308", "UMLS:C1413816", "UniProtKB:B2R717", "UniProtKB:O60911", "PR:O60911", "ENSEMBL:ENSP00000259470", "ENSEMBL:ENSP00000259470.5", "ENSEMBL:ENSP00000505141", "ENSEMBL:ENSP00000505141.1", "ENSEMBL:ENSP00000505681", "ENSEMBL:ENSP00000505681.1", "ENSEMBL:ENSP00000506713", "ENSEMBL:ENSP00000506713.1", "UMLS:C0764137", "MESH:C117627"], "information_content": 90.9}
{"id": "UniProtKB:Q13822-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "autotaxin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13822-2", "PR:Q13822-2", "ENSEMBL:ENSP00000259486", "ENSEMBL:ENSP00000259486.6"], "information_content": 100.0}
{"id": "MONDO:0004772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucomatocyclitic crisis", "equivalent_identifiers": ["MONDO:0004772", "DOID:9378", "orphanet:636950", "UMLS:C0152138", "MEDDRA:10018333", "SNOMEDCT:29538005", "medgen:508902", "ICD9:364.22"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUN8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "derlin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUN8-1", "PR:Q9BUN8-1", "ENSEMBL:ENSP00000259512", "ENSEMBL:ENSP00000259512.3"], "information_content": 100.0}
{"id": "NCBIGene:4856", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCN3", "equivalent_identifiers": ["NCBIGene:4856", "ENSEMBL:ENSG00000136999", "HGNC:7885", "OMIM:164958", "UMLS:C0919441", "UniProtKB:P48745", "PR:P48745", "ENSEMBL:ENSP00000259526", "ENSEMBL:ENSP00000259526.3", "UMLS:C1121443", "MESH:C526319"], "information_content": 87.2}
{"id": "UniProtKB:Q9H0F5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF38 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0F5-1", "PR:Q9H0F5-1", "ENSEMBL:ENSP00000259605", "ENSEMBL:ENSP00000259605.6"], "information_content": 100.0}
{"id": "NCBIGene:6366", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL21", "equivalent_identifiers": ["NCBIGene:6366", "ENSEMBL:ENSG00000137077", "HGNC:10620", "OMIM:602737", "UMLS:C1332684", "UniProtKB:O00585", "PR:O00585", "ENSEMBL:ENSP00000259607", "ENSEMBL:ENSP00000259607.2", "UMLS:C1700396", "MESH:C515478"], "information_content": 95.4}
{"id": "NCBIGene:27240", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIT1", "equivalent_identifiers": ["NCBIGene:27240", "ENSEMBL:ENSG00000137078", "HGNC:17710", "OMIM:604964", "UMLS:C1539774", "UniProtKB:Q9Y3P8", "PR:Q9Y3P8", "ENSEMBL:ENSP00000259608", "ENSEMBL:ENSP00000259608.3", "UMLS:C0766575", "MESH:C118781"], "information_content": 95.4}
{"id": "NCBIGene:10850", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL27", "equivalent_identifiers": ["NCBIGene:10850", "ENSEMBL:ENSG00000213927", "HGNC:10626", "OMIM:604833", "UMLS:C1366566", "UniProtKB:Q5VZ77", "UniProtKB:Q9Y4X3", "PR:Q9Y4X3", "ENSEMBL:ENSP00000259631", "ENSEMBL:ENSP00000259631.4", "UMLS:C0768285", "MESH:C492276"], "information_content": 90.9}
{"id": "MONDO:0001797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chancroid", "equivalent_identifiers": ["MONDO:0001797", "DOID:13778", "UMLS:C0007947", "MESH:D002602", "MEDDRA:10008392", "MEDDRA:10018944", "MEDDRA:10018945", "MEDDRA:10060620", "MEDDRA:10060621", "SNOMEDCT:266143009", "medgen:872", "icd11.foundation:1357024926", "ICD10:A57", "ICD9:099.0"], "information_content": 100.0}
{"id": "UniProtKB:O75935-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynactin subunit 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75935-1", "PR:O75935-1", "ENSEMBL:ENSP00000259632", "ENSEMBL:ENSP00000259632.7"], "information_content": 100.0}
{"id": "NCBIGene:971", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD72", "equivalent_identifiers": ["NCBIGene:971", "ENSEMBL:ENSG00000137101", "HGNC:1696", "OMIM:107272", "UMLS:C1332716", "UniProtKB:P21854", "PR:P21854", "ENSEMBL:ENSP00000259633", "ENSEMBL:ENSP00000259633.4", "UMLS:C0081944", "MESH:C064228", "UniProtKB:Q5TLG3"], "information_content": 95.4}
{"id": "NCBIGene:84681", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HINT2", "equivalent_identifiers": ["NCBIGene:84681", "ENSEMBL:ENSG00000137133", "HGNC:18344", "OMIM:609997", "UMLS:C1425462", "UniProtKB:Q9BX68", "PR:Q9BX68", "ENSEMBL:ENSP00000259667", "ENSEMBL:ENSP00000259667.5"], "information_content": 92.8}
{"id": "MONDO:0006325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ocular melanoma", "equivalent_identifiers": ["MONDO:0006325", "DOID:1752", "EFO:1000403", "UMLS:C0558356", "MEDDRA:10030052", "MEDDRA:10086693", "NCIT:C8562", "SNOMEDCT:274087000", "medgen:107846"], "information_content": 70.7}
{"id": "UniProtKB:Q9Y4F9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho family-interacting cell polarization regulator 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4F9-1", "PR:Q9Y4F9-1", "ENSEMBL:ENSP00000259698", "ENSEMBL:ENSP00000259698.4", "ENSEMBL:ENSP00000482957", "ENSEMBL:ENSP00000482957.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSK0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin light chain 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSK0-3", "PR:Q9NSK0-3", "ENSEMBL:ENSP00000259708", "ENSEMBL:ENSP00000259708.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H1H9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF13A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1H9-1", "PR:Q9H1H9-1", "ENSEMBL:ENSP00000259711", "ENSEMBL:ENSP00000259711.6"], "information_content": 100.0}
{"id": "NCBIGene:2766", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GMPR", "equivalent_identifiers": ["NCBIGene:2766", "ENSEMBL:ENSG00000137198", "HGNC:4376", "OMIM:139265", "UMLS:C1415135", "UniProtKB:P36959", "PR:P36959", "ENSEMBL:ENSP00000259727", "ENSEMBL:ENSP00000259727.4"], "information_content": 87.2}
{"id": "MONDO:0009058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystathioninuria", "equivalent_identifiers": ["MONDO:0009058", "DOID:0090142", "OMIM:219500", "orphanet:212", "UMLS:C0220993", "UMLS:C0268616", "UMLS:C3495552", "MESH:C535408", "MESH:C562680", "NCIT:C129070", "SNOMEDCT:13003007", "SNOMEDCT:6885006", "medgen:66353", "icd11.foundation:1415819835", "ICD10:E72.19", "HP:0003153"], "information_content": 95.4}
{"id": "UniProtKB:Q5T3F8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CSC1-like protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T3F8-1", "PR:Q5T3F8-1", "ENSEMBL:ENSP00000259746", "ENSEMBL:ENSP00000259746.9", "ENSEMBL:ENSP00000327154", "ENSEMBL:ENSP00000327154.6"], "information_content": 100.0}
{"id": "MONDO:0017910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Xerocytosis", "equivalent_identifiers": ["MONDO:0017910", "DOID:0111575", "orphanet:3202", "UMLS:C0272051", "MESH:C536764", "MEDDRA:10089900", "SNOMEDCT:715526002", "SNOMEDCT:87994004", "medgen:124415", "icd11.foundation:799088159"], "information_content": 92.8}
{"id": "UniProtKB:Q5TCY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tau-tubulin kinase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TCY1-1", "PR:Q5TCY1-1", "ENSEMBL:ENSP00000259750", "ENSEMBL:ENSP00000259750.4"], "information_content": 100.0}
{"id": "MONDO:0033009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 5", "equivalent_identifiers": ["MONDO:0033009", "DOID:0080247", "OMIM:617731", "UMLS:C4540274", "medgen:1617227"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJW2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulointerstitial nephritis antigen isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJW2-1", "PR:Q9UJW2-1", "ENSEMBL:ENSP00000259782", "ENSEMBL:ENSP00000259782.4"], "information_content": 100.0}
{"id": "MONDO:0000242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tinea barbae", "equivalent_identifiers": ["MONDO:0000242", "DOID:0050096", "UMLS:C2349994", "MESH:C000656825", "MEDDRA:10057682", "MEDDRA:10088270", "SNOMEDCT:399329002", "medgen:748519"], "information_content": 100.0}
{"id": "MONDO:0001699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tinea manuum", "equivalent_identifiers": ["MONDO:0001699", "DOID:13369", "UMLS:C0153246", "MESH:C000656824", "MEDDRA:10012510", "MEDDRA:10067197", "MEDDRA:10073383", "SNOMEDCT:48971001", "medgen:509222", "ICD10:B35.2", "ICD9:110.2"], "information_content": 100.0}
{"id": "MONDO:0001405", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tinea cruris", "equivalent_identifiers": ["MONDO:0001405", "DOID:11917", "UMLS:C0011638", "UMLS:C1384589", "MESH:D000084002", "MEDDRA:10012509", "MEDDRA:10018739", "MEDDRA:10039187", "MEDDRA:10043868", "MEDDRA:10064901", "MEDDRA:10087964", "NCIT:C34535", "SNOMEDCT:399029005", "medgen:3769", "ICD9:110.3"], "information_content": 100.0}
{"id": "MONDO:0001628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tinea unguium", "equivalent_identifiers": ["MONDO:0001628", "DOID:13074", "UMLS:C0007644", "UMLS:C0040261", "MESH:D014009", "MEDDRA:10017535", "MEDDRA:10028699", "MEDDRA:10030338", "MEDDRA:10039188", "MEDDRA:10043874", "NCIT:C112214", "SNOMEDCT:414941008", "medgen:11825", "ICD9:681.9", "HP:0012203"], "information_content": 100.0}
{"id": "MONDO:0001461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tinea corporis", "equivalent_identifiers": ["MONDO:0001461", "DOID:12179", "UMLS:C0040252", "UMLS:C0546826", "MEDDRA:10005913", "MEDDRA:10012506", "MEDDRA:10012515", "MEDDRA:10039185", "MEDDRA:10043867", "SNOMEDCT:84849002", "medgen:508197", "ICD9:110.5"], "information_content": 95.4}
{"id": "MONDO:0002967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tinea capitis", "equivalent_identifiers": ["MONDO:0002967", "DOID:4337", "UMLS:C0011640", "MEDDRA:10012514", "NCIT:C34536", "SNOMEDCT:266148000", "medgen:4237", "ICD9:110.0"], "information_content": 100.0}
{"id": "MONDO:0005984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tinea pedis", "equivalent_identifiers": ["MONDO:0005984", "DOID:12403", "EFO:0007512", "UMLS:C0040259", "MESH:D014008", "MEDDRA:10003621", "MEDDRA:10012507", "MEDDRA:10016978", "MEDDRA:10039186", "MEDDRA:10043873", "MEDDRA:10084360", "SNOMEDCT:6020002", "medgen:52759", "ICD10:B35.3", "ICD9:110.4"], "information_content": 100.0}
{"id": "MONDO:0032794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leber congenital amaurosis 19", "equivalent_identifiers": ["MONDO:0032794", "DOID:0081169", "OMIM:618513", "UMLS:C5193139", "medgen:1679297"], "information_content": 100.0}
{"id": "NCBIGene:8521", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GCM1", "equivalent_identifiers": ["NCBIGene:8521", "ENSEMBL:ENSG00000137270", "HGNC:4197", "OMIM:603715", "UMLS:C1415016", "UniProtKB:Q9NP62", "PR:Q9NP62", "ENSEMBL:ENSP00000259803", "ENSEMBL:ENSP00000259803.7", "UMLS:C1453318", "MESH:C491089"], "information_content": 92.8}
{"id": "UniProtKB:Q13546-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-interacting serine/threonine-protein kinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13546-1", "PR:Q13546-1", "ENSEMBL:ENSP00000259808", "ENSEMBL:ENSP00000259808.3"], "information_content": 95.4}
{"id": "NCBIGene:347733", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBB2B", "equivalent_identifiers": ["NCBIGene:347733", "ENSEMBL:ENSG00000137285", "HGNC:30829", "OMIM:612850", "UMLS:C1823553", "UniProtKB:A0A384MEE3", "UMLS:C3529804", "MESH:C576987", "UniProtKB:Q9BVA1", "PR:Q9BVA1", "ENSEMBL:ENSP00000259818", "ENSEMBL:ENSP00000259818.6"], "information_content": 88.2}
{"id": "MONDO:0012399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex cortical dysplasia with other brain malformations 7", "equivalent_identifiers": ["MONDO:0012399", "DOID:0090132", "OMIM:610031", "orphanet:300573", "UMLS:C3552236", "medgen:765150"], "information_content": 100.0}
{"id": "NCBIGene:170680", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSORS1C2", "equivalent_identifiers": ["NCBIGene:170680", "ENSEMBL:ENSG00000204538", "HGNC:17199", "OMIM:613526", "UMLS:C1424815", "UniProtKB:A0A1U9X9A6", "UMLS:C4705041", "MESH:C000626255", "UniProtKB:Q9UIG4", "PR:Q9UIG4", "ENSEMBL:ENSP00000259845", "ENSEMBL:ENSP00000259845.4", "ENSEMBL:ENSP00000373022", "ENSEMBL:ENSP00000373022.2", "ENSEMBL:ENSP00000390931", "ENSEMBL:ENSP00000390931.2", "ENSEMBL:ENSP00000398734", "ENSEMBL:ENSP00000398734.2", "ENSEMBL:ENSP00000403456", "ENSEMBL:ENSP00000403456.2", "ENSEMBL:ENSP00000414952", "ENSEMBL:ENSP00000414952.2"], "information_content": 100.0}
{"id": "NCBIGene:29113", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C6orf15", "equivalent_identifiers": ["NCBIGene:29113", "ENSEMBL:ENSG00000204542", "HGNC:13927", "OMIM:611401", "UMLS:C1422277", "UniProtKB:M1T2K5", "UMLS:C1531334", "MESH:C495414", "UniProtKB:Q6UXA7", "PR:Q6UXA7", "ENSEMBL:ENSP00000259870", "ENSEMBL:ENSP00000259870.3", "ENSEMBL:ENSP00000373024", "ENSEMBL:ENSP00000373024.4", "ENSEMBL:ENSP00000391756", "ENSEMBL:ENSP00000391756.2", "ENSEMBL:ENSP00000394931", "ENSEMBL:ENSP00000394931.2", "ENSEMBL:ENSP00000398496", "ENSEMBL:ENSP00000398496.2", "ENSEMBL:ENSP00000399436", "ENSEMBL:ENSP00000399436.2"], "information_content": 95.4}
{"id": "NCBIGene:28973", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPS18B", "equivalent_identifiers": ["NCBIGene:28973", "ENSEMBL:ENSG00000204568", "HGNC:14516", "OMIM:611982", "UMLS:C1422721", "UniProtKB:B0S7P4", "UniProtKB:B4DFG6", "UniProtKB:Q9Y676", "PR:Q9Y676", "ENSEMBL:ENSP00000259873", "ENSEMBL:ENSP00000259873.4", "ENSEMBL:ENSP00000383438", "ENSEMBL:ENSP00000383438.3", "ENSEMBL:ENSP00000397790", "ENSEMBL:ENSP00000397790.2", "ENSEMBL:ENSP00000398494", "ENSEMBL:ENSP00000398494.2", "ENSEMBL:ENSP00000402718", "ENSEMBL:ENSP00000402718.2", "ENSEMBL:ENSP00000414972", "ENSEMBL:ENSP00000414972.2", "ENSEMBL:ENSP00000415703", "ENSEMBL:ENSP00000415703.2"], "information_content": 100.0}
{"id": "NCBIGene:8870", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IER3", "equivalent_identifiers": ["NCBIGene:8870", "ENSEMBL:ENSG00000137331", "HGNC:5392", "OMIM:602996", "UMLS:C1415884", "UniProtKB:A0A1U9X7X2", "UMLS:C0540474", "MESH:C099815", "UniProtKB:P46695", "PR:P46695", "ENSEMBL:ENSP00000259874", "ENSEMBL:ENSP00000259874.5", "ENSEMBL:ENSP00000373054", "ENSEMBL:ENSP00000373054.4", "ENSEMBL:ENSP00000397956", "ENSEMBL:ENSP00000397956.2", "ENSEMBL:ENSP00000398139", "ENSEMBL:ENSP00000398139.2", "ENSEMBL:ENSP00000406245", "ENSEMBL:ENSP00000406245.2", "ENSEMBL:ENSP00000412283", "ENSEMBL:ENSP00000412283.2"], "information_content": 95.4}
{"id": "UniProtKB:Q9UIG5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "psoriasis susceptibility 1 candidate gene 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIG5-1", "PR:Q9UIG5-1", "ENSEMBL:ENSP00000259881", "ENSEMBL:ENSP00000259881.9", "ENSEMBL:ENSP00000389875", "ENSEMBL:ENSP00000389875.2", "ENSEMBL:ENSP00000396568", "ENSEMBL:ENSP00000396568.2", "ENSEMBL:ENSP00000398278", "ENSEMBL:ENSP00000398278.2"], "information_content": 100.0}
{"id": "NCBIGene:84547", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGBD1", "equivalent_identifiers": ["NCBIGene:84547", "ENSEMBL:ENSG00000137338", "HGNC:19398", "OMIM:621244", "UMLS:C1426219", "UniProtKB:Q96JS3", "PR:Q96JS3", "ENSEMBL:ENSP00000259883", "ENSEMBL:ENSP00000259883.3", "ENSEMBL:ENSP00000506997", "ENSEMBL:ENSP00000506997.1", "UMLS:C3252542", "MESH:C569369"], "information_content": 100.0}
{"id": "UniProtKB:Q92759-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription factor IIH subunit 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92759-1", "PR:Q92759-1", "ENSEMBL:ENSP00000259895", "ENSEMBL:ENSP00000259895.4", "ENSEMBL:ENSP00000365493", "ENSEMBL:ENSP00000365493.2", "ENSEMBL:ENSP00000365504", "ENSEMBL:ENSP00000365504.4", "ENSEMBL:ENSP00000383300", "ENSEMBL:ENSP00000383300.1", "ENSEMBL:ENSP00000387980", "ENSEMBL:ENSP00000387980.1", "ENSEMBL:ENSP00000388227", "ENSEMBL:ENSP00000388227.1", "ENSEMBL:ENSP00000395497", "ENSEMBL:ENSP00000395497.2", "ENSEMBL:ENSP00000396251", "ENSEMBL:ENSP00000396251.2", "ENSEMBL:ENSP00000399554", "ENSEMBL:ENSP00000399554.1", "ENSEMBL:ENSP00000401105", "ENSEMBL:ENSP00000401105.2", "ENSEMBL:ENSP00000403156", "ENSEMBL:ENSP00000403156.2", "ENSEMBL:ENSP00000409483", "ENSEMBL:ENSP00000409483.1"], "information_content": 100.0}
{"id": "UniProtKB:Q01860-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POU domain, class 5, transcription factor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q01860-1", "PR:Q01860-1", "ENSEMBL:ENSP00000259915", "ENSEMBL:ENSP00000259915.7", "ENSEMBL:ENSP00000373016", "ENSEMBL:ENSP00000373016.4", "ENSEMBL:ENSP00000388842", "ENSEMBL:ENSP00000388842.2", "ENSEMBL:ENSP00000391681", "ENSEMBL:ENSP00000391681.2", "ENSEMBL:ENSP00000392877", "ENSEMBL:ENSP00000392877.2", "ENSEMBL:ENSP00000400047", "ENSEMBL:ENSP00000400047.2", "ENSEMBL:ENSP00000405041", "ENSEMBL:ENSP00000405041.2"], "information_content": 100.0}
{"id": "NCBIGene:1208", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLPS", "equivalent_identifiers": ["NCBIGene:1208", "ENSEMBL:ENSG00000137392", "HGNC:2085", "OMIM:120105", "UMLS:C1413505", "UniProtKB:A0A087WZW1", "ENSEMBL:ENSP00000482919", "ENSEMBL:ENSP00000482919.1", "UniProtKB:A0A087X0Q7", "ENSEMBL:ENSP00000483589", "ENSEMBL:ENSP00000483589.1", "UniProtKB:P04118", "PR:P04118", "ENSEMBL:ENSP00000259938", "ENSEMBL:ENSP00000259938.2"], "information_content": 89.4}
{"id": "UniProtKB:Q7Z419-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF144B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z419-1", "PR:Q7Z419-1", "ENSEMBL:ENSP00000259939", "ENSEMBL:ENSP00000259939.4"], "information_content": 100.0}
{"id": "UniProtKB:P30511-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HLA class I histocompatibility antigen, alpha chain F isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P30511-3", "PR:P30511-3", "ENSEMBL:ENSP00000259951", "ENSEMBL:ENSP00000259951.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXM6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nurim isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXM6-1", "PR:Q8IXM6-1", "ENSEMBL:ENSP00000259953", "ENSEMBL:ENSP00000259953.4", "ENSEMBL:ENSP00000365603", "ENSEMBL:ENSP00000365603.5", "ENSEMBL:ENSP00000373065", "ENSEMBL:ENSP00000373065.2", "ENSEMBL:ENSP00000397755", "ENSEMBL:ENSP00000397755.1", "ENSEMBL:ENSP00000398752", "ENSEMBL:ENSP00000398752.1", "ENSEMBL:ENSP00000405789", "ENSEMBL:ENSP00000405789.1", "ENSEMBL:ENSP00000409285", "ENSEMBL:ENSP00000409285.1", "ENSEMBL:ENSP00000414927", "ENSEMBL:ENSP00000414927.1", "ENSEMBL:ENSP00000478812", "ENSEMBL:ENSP00000478812.1", "ENSEMBL:ENSP00000481406", "ENSEMBL:ENSP00000481406.1", "ENSEMBL:ENSP00000481407", "ENSEMBL:ENSP00000481407.1", "ENSEMBL:ENSP00000482593", "ENSEMBL:ENSP00000482593.1", "ENSEMBL:ENSP00000482740", "ENSEMBL:ENSP00000482740.1", "ENSEMBL:ENSP00000483875", "ENSEMBL:ENSP00000483875.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5T4I8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative uncharacterized protein C6orf52 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T4I8-1", "PR:Q5T4I8-1", "ENSEMBL:ENSP00000259983", "ENSEMBL:ENSP00000259983.3", "ENSEMBL:ENSP00000410749", "ENSEMBL:ENSP00000410749.2", "ENSEMBL:ENSP00000494707", "ENSEMBL:ENSP00000494707.1", "ENSEMBL:ENSP00000495171", "ENSEMBL:ENSP00000495171.1"], "information_content": 100.0}
{"id": "MONDO:0011272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 25", "equivalent_identifiers": ["MONDO:0011272", "DOID:0110384", "OMIM:602772", "UMLS:C1864446", "MESH:C566425", "medgen:350427"], "information_content": 100.0}
{"id": "MONDO:0008491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stiff-person syndrome", "equivalent_identifiers": ["MONDO:0008491", "DOID:13366", "OMIM:184850", "orphanet:3198", "EFO:0007498", "UMLS:C0085292", "MESH:D016750", "MEDDRA:10042044", "MEDDRA:10072148", "MEDDRA:10080172", "NCIT:C85170", "SNOMEDCT:5217008", "medgen:39017", "ICD10:G25.82", "ICD9:333.91"], "information_content": 90.9}
{"id": "NCBIGene:83888", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGFBP2", "equivalent_identifiers": ["NCBIGene:83888", "ENSEMBL:ENSG00000137441", "HGNC:29451", "OMIM:607713", "UMLS:C1825295", "UniProtKB:Q9BYJ0", "PR:Q9BYJ0", "ENSEMBL:ENSP00000259989", "ENSEMBL:ENSP00000259989.6", "UMLS:C1432208", "MESH:C431908"], "information_content": 89.4}
{"id": "NCBIGene:7097", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLR2", "equivalent_identifiers": ["NCBIGene:7097", "ENSEMBL:ENSG00000137462", "HGNC:11848", "OMIM:603028", "UMLS:C1336634", "UniProtKB:A0A0S2Z4S4", "UniProtKB:B3KWR9", "UniProtKB:O60603", "PR:O60603", "ENSEMBL:ENSP00000260010", "ENSEMBL:ENSP00000260010.6", "ENSEMBL:ENSP00000493968", "ENSEMBL:ENSP00000493968.2", "ENSEMBL:ENSP00000494425", "ENSEMBL:ENSP00000494425.1", "ENSEMBL:ENSP00000495339", "ENSEMBL:ENSP00000495339.1", "ENSEMBL:ENSP00000496208", "ENSEMBL:ENSP00000496208.2", "ENSEMBL:ENSP00000496676", "ENSEMBL:ENSP00000496676.2", "ENSEMBL:ENSP00000519700", "ENSEMBL:ENSP00000519700.1", "ENSEMBL:ENSP00000519701", "ENSEMBL:ENSP00000519701.1", "ENSEMBL:ENSP00000519702", "ENSEMBL:ENSP00000519702.1", "ENSEMBL:ENSP00000519703", "ENSEMBL:ENSP00000519703.1", "ENSEMBL:ENSP00000519704", "ENSEMBL:ENSP00000519704.1", "UMLS:C0754727", "MESH:C495342"], "information_content": 90.9}
{"id": "UniProtKB:O43422-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "52 kDa repressor of the inhibitor of the protein kinase isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O43422-1", "PR:O43422-1", "ENSEMBL:ENSP00000260045", "ENSEMBL:ENSP00000260045.3"], "information_content": 100.0}
{"id": "NCBIGene:29088", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL15", "equivalent_identifiers": ["NCBIGene:29088", "ENSEMBL:ENSG00000137547", "HGNC:14054", "OMIM:611828", "UMLS:C1422378", "UniProtKB:Q9P015", "PR:Q9P015", "ENSEMBL:ENSP00000260102", "ENSEMBL:ENSP00000260102.4", "UMLS:C5564771", "MESH:C000720588"], "information_content": 92.8}
{"id": "NCBIGene:51050", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PI15", "equivalent_identifiers": ["NCBIGene:51050", "ENSEMBL:ENSG00000137558", "HGNC:8946", "OMIM:607076", "UMLS:C1418548", "UniProtKB:O43692", "PR:O43692", "ENSEMBL:ENSP00000260113", "ENSEMBL:ENSP00000260113.2", "ENSEMBL:ENSP00000428567", "ENSEMBL:ENSP00000428567.1", "ENSEMBL:ENSP00000497041", "ENSEMBL:ENSP00000497041.1"], "information_content": 95.4}
{"id": "NCBIGene:7274", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTPA", "equivalent_identifiers": ["NCBIGene:7274", "ENSEMBL:ENSG00000137561", "HGNC:12404", "OMIM:600415", "UMLS:C1421223", "UniProtKB:P49638", "PR:P49638", "ENSEMBL:ENSP00000260116", "ENSEMBL:ENSP00000260116.4", "UMLS:C1505647"], "information_content": 95.4}
{"id": "NCBIGene:8836", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GGH", "equivalent_identifiers": ["NCBIGene:8836", "ENSEMBL:ENSG00000137563", "HGNC:4248", "OMIM:601509", "UMLS:C1415051", "UniProtKB:A0A7I2V5X9", "ENSEMBL:ENSP00000504520", "ENSEMBL:ENSP00000504520.1", "UniProtKB:Q92820", "PR:Q92820", "ENSEMBL:ENSP00000260118", "ENSEMBL:ENSP00000260118.6", "UMLS:C4082489"], "information_content": 84.2}
{"id": "UniProtKB:Q9H2Y9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier organic anion transporter family member 5A1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2Y9-1", "PR:Q9H2Y9-1", "ENSEMBL:ENSP00000260126", "ENSEMBL:ENSP00000260126.3"], "information_content": 100.0}
{"id": "NCBIGene:23213", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SULF1", "equivalent_identifiers": ["NCBIGene:23213", "ENSEMBL:ENSG00000137573", "HGNC:20391", "OMIM:610012", "UMLS:C1426908", "UniProtKB:Q8IWU6", "PR:Q8IWU6", "ENSEMBL:ENSP00000260128", "ENSEMBL:ENSP00000260128.4", "ENSEMBL:ENSP00000385704", "ENSEMBL:ENSP00000385704.4", "ENSEMBL:ENSP00000390315", "ENSEMBL:ENSP00000390315.3", "ENSEMBL:ENSP00000403040", "ENSEMBL:ENSP00000403040.2", "UMLS:C1173872", "MESH:C470791"], "information_content": 100.0}
{"id": "NCBIGene:96764", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGS1", "equivalent_identifiers": ["NCBIGene:96764", "ENSEMBL:ENSG00000137574", "HGNC:17843", "OMIM:606461", "UMLS:C1869126", "UniProtKB:Q96RS0", "PR:Q96RS0", "ENSEMBL:ENSP00000260129", "ENSEMBL:ENSP00000260129.5", "UMLS:C2713529"], "information_content": 92.8}
{"id": "UniProtKB:O75604-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75604-1", "PR:O75604-1", "ENSEMBL:ENSP00000260187", "ENSEMBL:ENSP00000260187.2"], "information_content": 100.0}
{"id": "UniProtKB:O95264-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-hydroxytryptamine receptor 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95264-1", "PR:O95264-1", "ENSEMBL:ENSP00000260191", "ENSEMBL:ENSP00000260191.2"], "information_content": 100.0}
{"id": "NCBIGene:6653", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SORL1", "equivalent_identifiers": ["NCBIGene:6653", "ENSEMBL:ENSG00000137642", "HGNC:11185", "OMIM:602005", "UMLS:C1420312", "UniProtKB:Q92673", "PR:Q92673", "ENSEMBL:ENSP00000260197", "ENSEMBL:ENSP00000260197.6", "UMLS:C1307867", "MESH:C102582"], "information_content": 77.1}
{"id": "UniProtKB:Q9BRD0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BUD13 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRD0-1", "PR:Q9BRD0-1", "ENSEMBL:ENSP00000260210", "ENSEMBL:ENSP00000260210.3"], "information_content": 100.0}
{"id": "NCBIGene:4316", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP7", "equivalent_identifiers": ["NCBIGene:4316", "ENSEMBL:ENSG00000137673", "HGNC:7174", "OMIM:178990", "UMLS:C1417212", "UniProtKB:P09237", "PR:P09237", "ENSEMBL:ENSP00000260227", "ENSEMBL:ENSP00000260227.4", "UMLS:C1429447", "MESH:C060932"], "information_content": 95.4}
{"id": "NCBIGene:9313", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP20", "equivalent_identifiers": ["NCBIGene:9313", "ENSEMBL:ENSG00000137674", "HGNC:7167", "OMIM:604629", "UMLS:C1417208", "UniProtKB:O60882", "PR:O60882", "ENSEMBL:ENSP00000260228", "ENSEMBL:ENSP00000260228.2", "UMLS:C1678153", "MESH:C507111"], "information_content": 100.0}
{"id": "NCBIGene:64066", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP27", "equivalent_identifiers": ["NCBIGene:64066", "ENSEMBL:ENSG00000137675", "HGNC:14250", "OMIM:618101", "UMLS:C1422511", "UniProtKB:Q9H306", "PR:Q9H306", "ENSEMBL:ENSP00000260229", "ENSEMBL:ENSP00000260229.4", "UMLS:C1676731", "MESH:C507119"], "information_content": 100.0}
{"id": "MONDO:0012698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 2E", "equivalent_identifiers": ["MONDO:0012698", "DOID:0110956", "OMIM:611584", "UMLS:C2700405", "medgen:398476"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ferredoxin-fold anticodon-binding domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRP7-1", "PR:Q9BRP7-1", "ENSEMBL:ENSP00000260257", "ENSEMBL:ENSP00000260257.4"], "information_content": 100.0}
{"id": "MONDO:0010441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CK syndrome", "equivalent_identifiers": ["MONDO:0010441", "DOID:0111898", "OMIM:300831", "orphanet:251383", "UMLS:C3151781", "SNOMEDCT:773329005", "medgen:463131"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKI9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POU domain, class 2, transcription factor 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKI9-2", "PR:Q9UKI9-2", "ENSEMBL:ENSP00000260264", "ENSEMBL:ENSP00000260264.4"], "information_content": 100.0}
{"id": "NCBIGene:2230", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FDX1", "equivalent_identifiers": ["NCBIGene:2230", "ENSEMBL:ENSG00000137714", "HGNC:3638", "OMIM:103260", "UMLS:C1414571", "UniProtKB:P10109", "PR:P10109", "ENSEMBL:ENSP00000260270", "ENSEMBL:ENSP00000260270.2", "UMLS:C5882346", "MESH:C000730072"], "information_content": 95.4}
{"id": "MONDO:0008751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corticosterone methyloxidase type 1 deficiency", "equivalent_identifiers": ["MONDO:0008751", "DOID:0080626", "OMIM:203400", "UMLS:C0268293", "MESH:C537806", "SNOMEDCT:47757001", "medgen:82784"], "information_content": 100.0}
{"id": "NCBIGene:4322", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP13", "equivalent_identifiers": ["NCBIGene:4322", "ENSEMBL:ENSG00000137745", "HGNC:7159", "OMIM:600108", "UMLS:C1417202", "UniProtKB:P45452", "PR:P45452", "ENSEMBL:ENSP00000260302", "ENSEMBL:ENSP00000260302.3", "UMLS:C1567335", "MESH:C507079", "UniProtKB:Q53H33"], "information_content": 95.4}
{"id": "UniProtKB:P07996-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thrombospondin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P07996-1", "PR:P07996-1", "ENSEMBL:ENSP00000260356", "ENSEMBL:ENSP00000260356.5"], "information_content": 89.4}
{"id": "NCBIGene:51103", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFAF1", "equivalent_identifiers": ["NCBIGene:51103", "ENSEMBL:ENSG00000137806", "HGNC:18828", "OMIM:606934", "UMLS:C1425806", "UniProtKB:Q9Y375", "PR:Q9Y375", "ENSEMBL:ENSP00000260361", "ENSEMBL:ENSP00000260361.4", "ENSEMBL:ENSP00000453944", "ENSEMBL:ENSP00000453944.2", "UMLS:C1674908", "MESH:C506342"], "information_content": 95.4}
{"id": "UniProtKB:Q02241-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02241-1", "PR:Q02241-1", "ENSEMBL:ENSP00000260363", "ENSEMBL:ENSP00000260363.4", "ENSEMBL:ENSP00000497065", "ENSEMBL:ENSP00000497065.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVX0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HAUS augmin-like complex subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVX0-1", "PR:Q9NVX0-1", "ENSEMBL:ENSP00000260372", "ENSEMBL:ENSP00000260372.3"], "information_content": 100.0}
{"id": "MONDO:0012297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SPOAN syndrome", "equivalent_identifiers": ["MONDO:0012297", "DOID:0060491", "OMIM:609541", "orphanet:320406", "UMLS:C1836010", "MESH:C563702", "SNOMEDCT:725139005", "medgen:324411"], "information_content": 100.0}
{"id": "MONDO:0008207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondromalacia patellae", "equivalent_identifiers": ["MONDO:0008207", "DOID:13357", "OMIM:168900", "UMLS:C0008475", "MESH:D046789", "MEDDRA:10008731", "MEDDRA:10008732", "SNOMEDCT:36071006", "medgen:939", "icd11.foundation:1589625540", "ICD10:M22.4", "ICD9:717.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-tubulin complex component 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGJ1-1", "PR:Q9UGJ1-1", "ENSEMBL:ENSP00000260383", "ENSEMBL:ENSP00000260383.7"], "information_content": 100.0}
{"id": "MONDO:0001087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizotypal personality disorder", "equivalent_identifiers": ["MONDO:0001087", "DOID:10646", "UMLS:C0036363", "UMLS:C1443045", "MESH:D012569", "MEDDRA:10039650", "MEDDRA:10039651", "NCIT:C92632", "SNOMEDCT:31027006", "medgen:1826899", "ICD10:F21", "ICD9:301.22"], "information_content": 100.0}
{"id": "UniProtKB:Q96TC7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of microtubule dynamics protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96TC7-1", "PR:Q96TC7-1", "ENSEMBL:ENSP00000260385", "ENSEMBL:ENSP00000260385.6", "ENSEMBL:ENSP00000342493", "ENSEMBL:ENSP00000342493.3"], "information_content": 100.0}
{"id": "NCBIGene:3706", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITPKA", "equivalent_identifiers": ["NCBIGene:3706", "ENSEMBL:ENSG00000137825", "HGNC:6178", "OMIM:147521", "UMLS:C1416516", "UniProtKB:P23677", "PR:P23677", "ENSEMBL:ENSP00000260386", "ENSEMBL:ENSP00000260386.5", "UMLS:C1622233"], "information_content": 100.0}
{"id": "UniProtKB:Q00722-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q00722-1", "PR:Q00722-1", "ENSEMBL:ENSP00000260402", "ENSEMBL:ENSP00000260402.3"], "information_content": 100.0}
{"id": "UniProtKB:O14672-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14672-1", "PR:O14672-1", "ENSEMBL:ENSP00000260408", "ENSEMBL:ENSP00000260408.3"], "information_content": 100.0}
{"id": "NCBIGene:51187", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RSL24D1", "equivalent_identifiers": ["NCBIGene:51187", "ENSEMBL:ENSG00000137876", "HGNC:18479", "OMIM:613262", "UMLS:C1425543", "UniProtKB:Q9UHA3", "PR:Q9UHA3", "ENSEMBL:ENSP00000260443", "ENSEMBL:ENSP00000260443.4"], "information_content": 95.4}
{"id": "MONDO:0013212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2N", "equivalent_identifiers": ["MONDO:0013212", "DOID:0110177", "OMIM:613287", "orphanet:228174", "UMLS:C2750090", "MESH:C567653", "SNOMEDCT:719515001", "medgen:413754"], "information_content": 100.0}
{"id": "UniProtKB:P30047-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTP cyclohydrolase 1 feedback regulatory protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P30047-1", "PR:P30047-1", "ENSEMBL:ENSP00000260447", "ENSEMBL:ENSP00000260447.4"], "information_content": 100.0}
{"id": "NCBIGene:55329", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MNS1", "equivalent_identifiers": ["NCBIGene:55329", "ENSEMBL:ENSG00000138587", "HGNC:29636", "OMIM:610766", "UMLS:C1826263", "UniProtKB:B3KQ70", "UMLS:C5564656", "MESH:C000720313", "UniProtKB:Q8NEH6", "PR:Q8NEH6", "ENSEMBL:ENSP00000260453", "ENSEMBL:ENSP00000260453.3"], "information_content": 100.0}
{"id": "MONDO:0015661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dextrocardia", "equivalent_identifiers": ["MONDO:0015661", "DOID:9565", "orphanet:1666", "UMLS:C0011813", "MESH:D003914", "MEDDRA:10012592", "NCIT:C84669", "SNOMEDCT:27637000", "medgen:4255", "icd11.foundation:1472687600", "ICD10:Q24.0", "HP:0001651"], "information_content": 92.8}
{"id": "MONDO:0014740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 68", "equivalent_identifiers": ["MONDO:0014740", "DOID:0110589", "OMIM:616707", "UMLS:C4225240", "medgen:898808"], "information_content": 100.0}
{"id": "UniProtKB:O75815-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "breast cancer anti-estrogen resistance protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75815-1", "PR:O75815-1", "ENSEMBL:ENSP00000260502", "ENSEMBL:ENSP00000260502.6", "ENSEMBL:ENSP00000359263", "ENSEMBL:ENSP00000359263.1", "ENSEMBL:ENSP00000359264", "ENSEMBL:ENSP00000359264.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZT98-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin polyglutamylase TTLL7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZT98-1", "PR:Q6ZT98-1", "ENSEMBL:ENSP00000260505", "ENSEMBL:ENSP00000260505.8"], "information_content": 100.0}
{"id": "UniProtKB:Q6YP21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kynurenine--oxoglutarate transaminase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6YP21-1", "PR:Q6YP21-1", "ENSEMBL:ENSP00000260508", "ENSEMBL:ENSP00000260508.4"], "information_content": 100.0}
{"id": "UniProtKB:Q52LW3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 29 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q52LW3-1", "PR:Q52LW3-1", "ENSEMBL:ENSP00000260526", "ENSEMBL:ENSP00000260526.6"], "information_content": 100.0}
{"id": "MONDO:0009437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bamforth-Lazarus syndrome", "equivalent_identifiers": ["MONDO:0009437", "DOID:0050655", "OMIM:241850", "orphanet:1226", "UMLS:C1855794", "MESH:C537901", "MEDDRA:10090559", "SNOMEDCT:722375007", "medgen:343420", "icd11.foundation:1747690671"], "information_content": 100.0}
{"id": "MONDO:0017138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Opitz G/BBB syndrome", "equivalent_identifiers": ["MONDO:0017138", "DOID:0080697", "orphanet:2745", "UMLS:C0175696", "NCIT:C125487", "SNOMEDCT:81771002", "KEGG.DISEASE:H00583"], "information_content": 95.4}
{"id": "UniProtKB:Q9UG01-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 172 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UG01-1", "PR:Q9UG01-1", "ENSEMBL:ENSP00000260570", "ENSEMBL:ENSP00000260570.3"], "information_content": 100.0}
{"id": "NCBIGene:85465", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SELENOI", "equivalent_identifiers": ["NCBIGene:85465", "ENSEMBL:ENSG00000138018", "HGNC:29361", "OMIM:607915", "UMLS:C1842834", "UniProtKB:Q9C0D9", "PR:Q9C0D9", "ENSEMBL:ENSP00000260585", "ENSEMBL:ENSP00000260585.7"], "information_content": 95.4}
{"id": "UniProtKB:P50053-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ketohexokinase isoform A (human)", "equivalent_identifiers": ["UniProtKB:P50053-2", "PR:P50053-2", "ENSEMBL:ENSP00000260599", "ENSEMBL:ENSP00000260599.6"], "information_content": 100.0}
{"id": "NCBIGene:10113", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PREB", "equivalent_identifiers": ["NCBIGene:10113", "ENSEMBL:ENSG00000138073", "HGNC:9356", "OMIM:606395", "UMLS:C1418883", "UniProtKB:B5MC98", "ENSEMBL:ENSP00000384032", "ENSEMBL:ENSP00000384032.3", "UMLS:C1431838", "MESH:C118971", "UniProtKB:Q05DB2", "UniProtKB:Q9HCU5", "PR:Q9HCU5", "ENSEMBL:ENSP00000260643", "ENSEMBL:ENSP00000260643.2"], "information_content": 89.4}
{"id": "UniProtKB:Q07837-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amino acid transporter heavy chain SLC3A1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q07837-1", "PR:Q07837-1", "ENSEMBL:ENSP00000260649", "ENSEMBL:ENSP00000260649.6"], "information_content": 100.0}
{"id": "NCBIGene:6496", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIX3", "equivalent_identifiers": ["NCBIGene:6496", "ENSEMBL:ENSG00000138083", "HGNC:10889", "OMIM:603714", "UMLS:C1420074", "UniProtKB:O95343", "PR:O95343", "ENSEMBL:ENSP00000260653", "ENSEMBL:ENSP00000260653.3", "UMLS:C1568992", "MESH:C000727835"], "information_content": 100.0}
{"id": "MONDO:0003845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corpus callosum lipoma", "equivalent_identifiers": ["MONDO:0003845", "DOID:6294", "UMLS:C1333160", "MEDDRA:10090789", "NCIT:C5438", "medgen:272510", "HP:0006931"], "information_content": 92.8}
{"id": "NCBIGene:10128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRPPRC", "equivalent_identifiers": ["NCBIGene:10128", "ENSEMBL:ENSG00000138095", "HGNC:15714", "OMIM:607544", "UMLS:C1423677", "UniProtKB:E5KNY5", "UMLS:C1430073", "MESH:C087940", "UniProtKB:P42704", "PR:P42704", "ENSEMBL:ENSP00000260665", "ENSEMBL:ENSP00000260665.7"], "information_content": 84.8}
{"id": "UniProtKB:P11712-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 2C9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P11712-1", "PR:P11712-1", "ENSEMBL:ENSP00000260682", "ENSEMBL:ENSP00000260682.6"], "information_content": 100.0}
{"id": "NCBIGene:84171", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LOXL4", "equivalent_identifiers": ["NCBIGene:84171", "ENSEMBL:ENSG00000138131", "HGNC:17171", "OMIM:607318", "UMLS:C1424794", "UniProtKB:Q96JB6", "PR:Q96JB6", "ENSEMBL:ENSP00000260702", "ENSEMBL:ENSP00000260702.3", "UMLS:C1448242", "MESH:C445682"], "information_content": 95.4}
{"id": "NCBIGene:3832", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIF11", "equivalent_identifiers": ["NCBIGene:3832", "ENSEMBL:ENSG00000138160", "HGNC:6388", "OMIM:148760", "UMLS:C1416693", "UniProtKB:P52732", "PR:P52732", "ENSEMBL:ENSP00000260731", "ENSEMBL:ENSP00000260731.3", "UMLS:C1173400", "MESH:C470243"], "information_content": 83.6}
{"id": "UniProtKB:Q9HA72-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium homeostasis modulator protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HA72-1", "PR:Q9HA72-1", "ENSEMBL:ENSP00000260743", "ENSEMBL:ENSP00000260743.5", "ENSEMBL:ENSP00000358803", "ENSEMBL:ENSP00000358803.3"], "information_content": 100.0}
{"id": "NCBIGene:403", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARL3", "equivalent_identifiers": ["NCBIGene:403", "ENSEMBL:ENSG00000138175", "HGNC:694", "OMIM:604695", "UMLS:C1412538", "UniProtKB:P36405", "PR:P36405", "ENSEMBL:ENSP00000260746", "ENSEMBL:ENSP00000260746.4", "UMLS:C1452539", "MESH:C490247"], "information_content": 92.8}
{"id": "UniProtKB:Q8TAG9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exocyst complex component 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAG9-1", "PR:Q8TAG9-1", "ENSEMBL:ENSP00000260762", "ENSEMBL:ENSP00000260762.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9UK59-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lariat debranching enzyme isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UK59-1", "PR:Q9UK59-1", "ENSEMBL:ENSP00000260803", "ENSEMBL:ENSP00000260803.4"], "information_content": 100.0}
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{"id": "NCBIGene:53836", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR87", "equivalent_identifiers": ["NCBIGene:53836", "ENSEMBL:ENSG00000138271", "HGNC:4538", "OMIM:606379", "UMLS:C1415268", "UniProtKB:Q9BY21", "PR:Q9BY21", "ENSEMBL:ENSP00000260843", "ENSEMBL:ENSP00000260843.4", "UMLS:C2351130", "MESH:C526276"], "information_content": 95.4}
{"id": "UniProtKB:Q99728-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BRCA1-associated RING domain protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99728-1", "PR:Q99728-1", "ENSEMBL:ENSP00000260947", "ENSEMBL:ENSP00000260947.4"], "information_content": 100.0}
{"id": "MONDO:0002158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fallopian tube cancer", "equivalent_identifiers": ["MONDO:0002158", "DOID:1964", "orphanet:180242", "UMLS:C0153579", "MEDDRA:10016181", "MEDDRA:10025913", "MEDDRA:10025915", "NCIT:C7480", "SNOMEDCT:363444001", "medgen:102276", "icd11.foundation:459381514", "ICD10:C57.0", "ICD9:183.2"], "information_content": 70.0}
{"id": "MONDO:0012764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RIDDLE syndrome", "equivalent_identifiers": ["MONDO:0012764", "DOID:0090113", "OMIM:611943", "orphanet:420741", "EFO:0009055", "UMLS:C2677792", "MESH:C567453", "SNOMEDCT:783099001", "medgen:394368"], "information_content": 100.0}
{"id": "MONDO:0000649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sensory system cancer", "equivalent_identifiers": ["MONDO:0000649", "DOID:0060116"], "information_content": 67.9}
{"id": "MONDO:0002087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peritoneum cancer", "equivalent_identifiers": ["MONDO:0002087", "DOID:1725", "UMLS:C0153466", "UMLS:C0153467", "MEDDRA:10026340", "MEDDRA:10026469", "MEDDRA:10026669", "MEDDRA:10061269", "NCIT:C194243", "NCIT:C3538", "SNOMEDCT:363492001", "medgen:102270", "ICD10:C48.1", "ICD9:158.8"], "information_content": 69.0}
{"id": "MONDO:0002480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endometrioid tumor", "equivalent_identifiers": ["MONDO:0002480", "DOID:3001", "EFO:0009118", "UMLS:C0474809", "NCIT:C7113", "SNOMEDCT:253013001", "medgen:105374"], "information_content": 69.0}
{"id": "NCBIGene:2660", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MSTN", "equivalent_identifiers": ["NCBIGene:2660", "ENSEMBL:ENSG00000138379", "HGNC:4223", "OMIM:601788", "UMLS:C1333667", "UniProtKB:O14793", "PR:O14793", "ENSEMBL:ENSP00000260950", "ENSEMBL:ENSP00000260950.3", "UMLS:C0538238", "MESH:C525911", "UniProtKB:Q53S46"], "information_content": 88.2}
{"id": "UniProtKB:Q9NWL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000260952", "equivalent_identifiers": ["UniProtKB:Q9NWL6-1", "ENSEMBL:ENSP00000260952", "ENSEMBL:ENSP00000260952.4"]}
{"id": "MONDO:0008045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy-progressive myoclonic epilepsy syndrome", "equivalent_identifiers": ["MONDO:0008045", "DOID:0111527", "OMIM:159950", "orphanet:2590", "UMLS:C1834569", "MESH:C537563", "SNOMEDCT:703524005", "medgen:371854"], "information_content": 100.0}
{"id": "NCBIGene:29081", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "METTL5", "equivalent_identifiers": ["NCBIGene:29081", "ENSEMBL:ENSG00000138382", "HGNC:25006", "OMIM:618628", "UMLS:C1537689", "UniProtKB:Q9NRN9", "PR:Q9NRN9", "ENSEMBL:ENSP00000260953", "ENSEMBL:ENSP00000260953.5", "ENSEMBL:ENSP00000376415", "ENSEMBL:ENSP00000376415.2", "ENSEMBL:ENSP00000386582", "ENSEMBL:ENSP00000386582.1", "UMLS:C5226116", "MESH:C000655014"], "information_content": 92.8}
{"id": "UniProtKB:Q13427-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidyl-prolyl cis-trans isomerase G isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13427-1", "PR:Q13427-1", "ENSEMBL:ENSP00000260970", "ENSEMBL:ENSP00000260970.3", "ENSEMBL:ENSP00000407083", "ENSEMBL:ENSP00000407083.2", "ENSEMBL:ENSP00000408683", "ENSEMBL:ENSP00000408683.2", "ENSEMBL:ENSP00000502997", "ENSEMBL:ENSP00000502997.1", "ENSEMBL:ENSP00000503136", "ENSEMBL:ENSP00000503136.1", "ENSEMBL:ENSP00000503525", "ENSEMBL:ENSP00000503525.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2P5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase HECW2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2P5-1", "PR:Q9P2P5-1", "ENSEMBL:ENSP00000260983", "ENSEMBL:ENSP00000260983.2", "ENSEMBL:ENSP00000494649", "ENSEMBL:ENSP00000494649.1", "ENSEMBL:ENSP00000495418", "ENSEMBL:ENSP00000495418.1"], "information_content": 100.0}
{"id": "NCBIGene:1419", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRYGB", "equivalent_identifiers": ["NCBIGene:1419", "ENSEMBL:ENSG00000182187", "HGNC:2409", "OMIM:123670", "UMLS:C1413734", "UniProtKB:P07316", "PR:P07316", "ENSEMBL:ENSP00000260988", "ENSEMBL:ENSP00000260988.4"], "information_content": 95.4}
{"id": "MONDO:0010241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness 2A", "equivalent_identifiers": ["MONDO:0010241", "DOID:0110871", "OMIM:300071", "UMLS:C1848172", "medgen:376299"], "information_content": 100.0}
{"id": "UniProtKB:P02708-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetylcholine receptor subunit alpha isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P02708-1", "PR:P02708-1", "ENSEMBL:ENSP00000261007", "ENSEMBL:ENSP00000261007.5"], "information_content": 100.0}
{"id": "NCBIGene:55759", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR12", "equivalent_identifiers": ["NCBIGene:55759", "ENSEMBL:ENSG00000138442", "HGNC:14098", "OMIM:616620", "UMLS:C1422404", "UniProtKB:Q53T99", "UMLS:C1870594", "MESH:C517873", "UniProtKB:Q9GZL7", "PR:Q9GZL7", "ENSEMBL:ENSP00000261015", "ENSEMBL:ENSP00000261015.4", "ENSEMBL:ENSP00000509107", "ENSEMBL:ENSP00000509107.1"], "information_content": 92.8}
{"id": "UniProtKB:P06756-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin alpha-V isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P06756-1", "PR:P06756-1", "ENSEMBL:ENSP00000261023", "ENSEMBL:ENSP00000261023.3"], "information_content": 100.0}
{"id": "NCBIGene:30061", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC40A1", "equivalent_identifiers": ["NCBIGene:30061", "ENSEMBL:ENSG00000138449", "HGNC:10909", "OMIM:604653", "UMLS:C1456396", "UniProtKB:Q9NP59", "PR:Q9NP59", "ENSEMBL:ENSP00000261024", "ENSEMBL:ENSP00000261024.3", "UMLS:C1452617", "MESH:C000730176"], "information_content": 88.2}
{"id": "NCBIGene:1295", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL8A1", "equivalent_identifiers": ["NCBIGene:1295", "ENSEMBL:ENSG00000144810", "HGNC:2215", "OMIM:120251", "UMLS:C1413593", "UniProtKB:P27658", "PR:P27658", "ENSEMBL:ENSP00000261037", "ENSEMBL:ENSP00000261037.3", "ENSEMBL:ENSP00000273342", "ENSEMBL:ENSP00000273342.3", "ENSEMBL:ENSP00000498483", "ENSEMBL:ENSP00000498483.1", "UMLS:C4549754", "MESH:C000621857"], "information_content": 83.6}
{"id": "MONDO:0005321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fuchs' endothelial dystrophy", "equivalent_identifiers": ["MONDO:0005321", "DOID:11555", "OMIM.PS:136800", "orphanet:98974", "UMLS:C0016781", "MESH:D005642", "MEDDRA:10062973", "NCIT:C84721", "SNOMEDCT:193839007", "medgen:4800", "ICD10:H18.51"], "information_content": 85.5}
{"id": "MONDO:0020364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior polymorphous corneal dystrophy", "equivalent_identifiers": ["MONDO:0020364", "DOID:0060457", "OMIM.PS:122000", "orphanet:98973", "medgen:87382", "icd11.foundation:935421185"], "information_content": 89.4}
{"id": "UniProtKB:Q96SL1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 49 member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96SL1-1", "PR:Q96SL1-1", "ENSEMBL:ENSP00000261038", "ENSEMBL:ENSP00000261038.5"], "information_content": 100.0}
{"id": "UniProtKB:O95843-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanylyl cyclase-activating protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95843-1", "PR:O95843-1", "ENSEMBL:ENSP00000261047", "ENSEMBL:ENSP00000261047.3"], "information_content": 100.0}
{"id": "NCBIGene:84692", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC54", "equivalent_identifiers": ["NCBIGene:84692", "ENSEMBL:ENSG00000138483", "HGNC:30703", "UMLS:C1824578", "UniProtKB:A0A140VJF9", "UniProtKB:Q8NEL0", "PR:Q8NEL0", "ENSEMBL:ENSP00000261058", "ENSEMBL:ENSP00000261058.1"], "information_content": 100.0}
{"id": "NCBIGene:10063", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX17", "equivalent_identifiers": ["NCBIGene:10063", "ENSEMBL:ENSG00000138495", "HGNC:2264", "OMIM:604813", "UMLS:C1413633", "UniProtKB:C9J8T6", "ENSEMBL:ENSP00000417651", "ENSEMBL:ENSP00000417651.1", "UniProtKB:Q14061", "PR:Q14061", "ENSEMBL:ENSP00000261070", "ENSEMBL:ENSP00000261070.2", "ENSEMBL:ENSP00000417805", "ENSEMBL:ENSP00000417805.1", "ENSEMBL:ENSP00000417923", "ENSEMBL:ENSP00000417923.1", "UMLS:C1455117", "MESH:C491006"], "information_content": 90.9}
{"id": "NCBIGene:51729", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WBP11", "equivalent_identifiers": ["NCBIGene:51729", "ENSEMBL:ENSG00000084463", "HGNC:16461", "OMIM:618083", "UMLS:C1424299", "UniProtKB:Q9Y2W2", "PR:Q9Y2W2", "ENSEMBL:ENSP00000261167", "ENSEMBL:ENSP00000261167.2", "UMLS:C1310129", "MESH:C434066"], "information_content": 95.4}
{"id": "NCBIGene:2984", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GUCY2C", "equivalent_identifiers": ["NCBIGene:2984", "ENSEMBL:ENSG00000070019", "HGNC:4688", "OMIM:601330", "UMLS:C1415363", "UniProtKB:P25092", "PR:P25092", "ENSEMBL:ENSP00000261170", "ENSEMBL:ENSP00000261170.3", "UMLS:C1451001", "MESH:C000613654"], "information_content": 95.4}
{"id": "MONDO:0004570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Volvulus", "equivalent_identifiers": ["MONDO:0004570", "DOID:8445", "UMLS:C0042961", "MESH:D045822", "MEDDRA:10047697", "MEDDRA:10047698", "NCIT:C98963", "SNOMEDCT:90738007", "SNOMEDCT:9707006", "medgen:21892", "ICD10:K56.2", "ICD9:560.2", "HP:0002580"], "information_content": 100.0}
{"id": "MONDO:0009558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Treacher Collins syndrome 3", "equivalent_identifiers": ["MONDO:0009558", "DOID:0080791", "OMIM:248390", "UMLS:C1855433", "MESH:C535707", "medgen:340868"], "information_content": 100.0}
{"id": "NCBIGene:1833", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPYC", "equivalent_identifiers": ["NCBIGene:1833", "ENSEMBL:ENSG00000083782", "HGNC:3053", "OMIM:601657", "UMLS:C1825058", "UniProtKB:Q99645", "PR:Q99645", "ENSEMBL:ENSP00000261172", "ENSEMBL:ENSP00000261172.3", "UMLS:C1309091", "MESH:C119499"], "information_content": 95.4}
{"id": "MONDO:0013027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior amorphous corneal dystrophy", "equivalent_identifiers": ["MONDO:0013027", "DOID:0060452", "OMIM:612868", "orphanet:98971", "UMLS:C2748502", "MESH:C567546", "SNOMEDCT:719296002", "medgen:412567", "icd11.foundation:347556972"], "information_content": 100.0}
{"id": "MONDO:0012401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stromal corneal dystrophy", "equivalent_identifiers": ["MONDO:0012401", "DOID:0060445", "OMIM:610048", "orphanet:101068", "UMLS:C1864738", "MESH:C566452", "SNOMEDCT:702359002", "medgen:400601", "icd11.foundation:1796933876", "ICD10:H18.5"], "information_content": 100.0}
{"id": "NCBIGene:441631", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPAN11", "equivalent_identifiers": ["NCBIGene:441631", "ENSEMBL:ENSG00000110900", "HGNC:30795", "OMIM:621013", "UMLS:C1540091", "UniProtKB:A1L157", "PR:A1L157", "ENSEMBL:ENSP00000261177", "ENSEMBL:ENSP00000261177.9", "ENSEMBL:ENSP00000437403", "ENSEMBL:ENSP00000437403.1", "UMLS:C2975743", "MESH:C554898"], "information_content": 95.4}
{"id": "MONDO:0018800", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kallmann syndrome", "equivalent_identifiers": ["MONDO:0018800", "DOID:3614", "orphanet:478", "UMLS:C0162809", "MESH:D017436", "MEDDRA:10023276", "MEDDRA:10053142", "MEDDRA:10053145", "MEDDRA:10064781", "NCIT:C75479", "SNOMEDCT:93559003", "medgen:102469"], "information_content": 80.6}
{"id": "NCBIGene:29953", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRHDE", "equivalent_identifiers": ["NCBIGene:29953", "ENSEMBL:ENSG00000072657", "HGNC:30748", "OMIM:606950", "UMLS:C1823485", "UniProtKB:Q9UKU6", "PR:Q9UKU6", "ENSEMBL:ENSP00000261180", "ENSEMBL:ENSP00000261180.5"], "information_content": 95.4}
{"id": "UniProtKB:Q9BZF1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxysterol-binding protein-related protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZF1-1", "PR:Q9BZF1-1", "ENSEMBL:ENSP00000261183", "ENSEMBL:ENSP00000261183.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVM9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrator complex subunit 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVM9-1", "PR:Q9NVM9-1", "ENSEMBL:ENSP00000261191", "ENSEMBL:ENSP00000261191.7"], "information_content": 100.0}
{"id": "NCBIGene:2998", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GYS2", "equivalent_identifiers": ["NCBIGene:2998", "ENSEMBL:ENSG00000111713", "HGNC:4707", "OMIM:138571", "UMLS:C1415378", "UniProtKB:P54840", "PR:P54840", "ENSEMBL:ENSP00000261195", "ENSEMBL:ENSP00000261195.2"], "information_content": 90.9}
{"id": "UniProtKB:Q9NPD5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000261196", "equivalent_identifiers": ["UniProtKB:Q9NPD5-1", "ENSEMBL:ENSP00000261196", "ENSEMBL:ENSP00000261196.2", "ENSEMBL:ENSP00000370956", "ENSEMBL:ENSP00000370956.4"]}
{"id": "UniProtKB:O60706-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family C member 9 isoform hSUR2B (human)", "equivalent_identifiers": ["UniProtKB:O60706-2", "PR:O60706-2", "ENSEMBL:ENSP00000261200", "ENSEMBL:ENSP00000261200.4"], "information_content": 100.0}
{"id": "NCBIGene:6857", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYT1", "equivalent_identifiers": ["NCBIGene:6857", "ENSEMBL:ENSG00000067715", "HGNC:11509", "OMIM:185605", "UMLS:C1420556", "UniProtKB:J3KQA0", "ENSEMBL:ENSP00000391056", "ENSEMBL:ENSP00000391056.2", "ENSEMBL:ENSP00000515996", "ENSEMBL:ENSP00000515996.1", "ENSEMBL:ENSP00000516006", "ENSEMBL:ENSP00000516006.1", "ENSEMBL:ENSP00000516011", "ENSEMBL:ENSP00000516011.1", "UniProtKB:P21579", "PR:P21579", "ENSEMBL:ENSP00000261205", "ENSEMBL:ENSP00000261205.4", "ENSEMBL:ENSP00000376932", "ENSEMBL:ENSP00000376932.3", "ENSEMBL:ENSP00000447575", "ENSEMBL:ENSP00000447575.1", "ENSEMBL:ENSP00000515993", "ENSEMBL:ENSP00000515993.1", "ENSEMBL:ENSP00000515997", "ENSEMBL:ENSP00000515997.1", "ENSEMBL:ENSP00000515999", "ENSEMBL:ENSP00000515999.1", "ENSEMBL:ENSP00000516001", "ENSEMBL:ENSP00000516001.1", "ENSEMBL:ENSP00000516002", "ENSEMBL:ENSP00000516002.1", "ENSEMBL:ENSP00000516003", "ENSEMBL:ENSP00000516003.1", "ENSEMBL:ENSP00000516005", "ENSEMBL:ENSP00000516005.1", "ENSEMBL:ENSP00000516007", "ENSEMBL:ENSP00000516007.1", "ENSEMBL:ENSP00000516009", "ENSEMBL:ENSP00000516009.1", "ENSEMBL:ENSP00000516013", "ENSEMBL:ENSP00000516013.1", "UMLS:C1530318", "MESH:C494310"], "information_content": 100.0}
{"id": "UniProtKB:P42357-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histidine ammonia-lyase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P42357-1", "PR:P42357-1", "ENSEMBL:ENSP00000261208", "ENSEMBL:ENSP00000261208.3"], "information_content": 100.0}
{"id": "MONDO:0010167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urocanic aciduria", "equivalent_identifiers": ["MONDO:0010167", "DOID:0112180", "OMIM:276880", "orphanet:210128", "UMLS:C0268514", "MESH:C536479", "SNOMEDCT:60952007", "medgen:120644", "icd11.foundation:61773927", "HP:0012237"], "information_content": 100.0}
{"id": "UniProtKB:Q00537-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 17 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q00537-1", "PR:Q00537-1", "ENSEMBL:ENSP00000261211", "ENSEMBL:ENSP00000261211.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y616-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-1 receptor-associated kinase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y616-1", "PR:Q9Y616-1", "ENSEMBL:ENSP00000261233", "ENSEMBL:ENSP00000261233.4"], "information_content": 100.0}
{"id": "NCBIGene:10329", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RXYLT1", "equivalent_identifiers": ["NCBIGene:10329", "ENSEMBL:ENSG00000118600", "HGNC:13530", "OMIM:605862", "UMLS:C1422041", "UniProtKB:A0A8I5KWX9", "ENSEMBL:ENSP00000508435", "ENSEMBL:ENSP00000508435.1", "UniProtKB:Q9Y2B1", "PR:Q9Y2B1", "ENSEMBL:ENSP00000261234", "ENSEMBL:ENSP00000261234.6", "UMLS:C3660524", "MESH:C578283"], "information_content": 100.0}
{"id": "MONDO:0009277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glaucoma 3A", "equivalent_identifiers": ["MONDO:0009277", "DOID:11211", "OMIM:231300", "orphanet:98976", "UMLS:C0311251", "UMLS:C1856439", "UMLS:C3278153", "UMLS:C4551507", "MESH:C565547", "MEDDRA:10006587", "MEDDRA:10006589", "MEDDRA:10006590", "MEDDRA:10040682", "NCIT:C148260", "medgen:383912", "ICD9:743.21", "HP:0000557"], "information_content": 100.0}
{"id": "UniProtKB:P51948-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CDK-activating kinase assembly factor MAT1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P51948-1", "PR:P51948-1", "ENSEMBL:ENSP00000261245", "ENSEMBL:ENSP00000261245.4"], "information_content": 100.0}
{"id": "NCBIGene:57570", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRMT5", "equivalent_identifiers": ["NCBIGene:57570", "ENSEMBL:ENSG00000126814", "HGNC:23141", "OMIM:611023", "UMLS:C1823499", "UniProtKB:Q32P41", "PR:Q32P41", "ENSEMBL:ENSP00000261249", "ENSEMBL:ENSP00000261249.6", "UMLS:C1506077", "MESH:C489294"], "information_content": 95.4}
{"id": "NCBIGene:57102", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FERRY3", "equivalent_identifiers": ["NCBIGene:57102", "ENSEMBL:ENSG00000047621", "HGNC:1184", "OMIM:616082", "UMLS:C1412881", "UniProtKB:Q9NQ89", "PR:Q9NQ89", "ENSEMBL:ENSP00000261250", "ENSEMBL:ENSP00000261250.3", "ENSEMBL:ENSP00000439996", "ENSEMBL:ENSP00000439996.1", "UMLS:C4044509", "MESH:C000597204"], "information_content": 92.8}
{"id": "UniProtKB:P30279-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G1/S-specific cyclin-D2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30279-1", "PR:P30279-1", "ENSEMBL:ENSP00000261254", "ENSEMBL:ENSP00000261254.3", "ENSEMBL:ENSP00000502597", "ENSEMBL:ENSP00000502597.1", "ENSEMBL:ENSP00000502654", "ENSEMBL:ENSP00000502654.1"], "information_content": 100.0}
{"id": "NCBIGene:23011", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB21", "equivalent_identifiers": ["NCBIGene:23011", "ENSEMBL:ENSG00000080371", "HGNC:18263", "OMIM:612398", "UMLS:C1425403", "UniProtKB:Q9UL25", "PR:Q9UL25", "ENSEMBL:ENSP00000261263", "ENSEMBL:ENSP00000261263.3", "UMLS:C0972240", "MESH:C415145"], "information_content": 90.9}
{"id": "NCBIGene:4069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LYZ", "equivalent_identifiers": ["NCBIGene:4069", "ENSEMBL:ENSG00000090382", "HGNC:6740", "OMIM:153450", "UMLS:C1416945", "UniProtKB:B2R4C5", "UniProtKB:P61626", "PR:P61626", "ENSEMBL:ENSP00000261267", "ENSEMBL:ENSP00000261267.2", "UMLS:C1743795", "MESH:C514728"], "information_content": 92.8}
{"id": "UniProtKB:O60320-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ENTREP2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60320-1", "PR:O60320-1", "ENSEMBL:ENSP00000261275", "ENSEMBL:ENSP00000261275.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5X9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endothelial lipase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5X9-1", "PR:Q9Y5X9-1", "ENSEMBL:ENSP00000261292", "ENSEMBL:ENSP00000261292.4"], "information_content": 100.0}
{"id": "NCBIGene:23483", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGDS", "equivalent_identifiers": ["NCBIGene:23483", "ENSEMBL:ENSG00000088451", "HGNC:20324", "OMIM:616146", "UMLS:C1426860", "UniProtKB:O95455", "PR:O95455", "ENSEMBL:ENSP00000261296", "ENSEMBL:ENSP00000261296.5", "UMLS:C4549361", "MESH:C000625125"], "information_content": 100.0}
{"id": "MONDO:0009372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy due to hydroxykynureninuria", "equivalent_identifiers": ["MONDO:0009372", "DOID:0112257", "OMIM:236800", "orphanet:79155", "UMLS:C0268474", "MESH:C536081", "SNOMEDCT:17820009", "SNOMEDCT:33116002", "SNOMEDCT:72945002", "medgen:78681", "icd11.foundation:1145853843"], "information_content": 100.0}
{"id": "MONDO:0007158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome", "equivalent_identifiers": ["MONDO:0007158", "DOID:0111608", "OMIM:108145", "orphanet:1154", "UMLS:C1862472", "MESH:C537737", "SNOMEDCT:715217004", "medgen:350678"], "information_content": 100.0}
{"id": "MONDO:0000811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anomalous left coronary artery from the pulmonary artery", "equivalent_identifiers": ["MONDO:0000811", "DOID:0060562", "UMLS:C1735886", "UMLS:C3472166", "MESH:D063748", "MEDDRA:10066223", "MEDDRA:10084540", "SNOMEDCT:450301003", "medgen:760471", "HP:0011638"], "information_content": 100.0}
{"id": "MONDO:0020367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile open angle glaucoma", "equivalent_identifiers": ["MONDO:0020367", "DOID:1068", "orphanet:98977", "UMLS:C2981140", "MEDDRA:10064032", "SNOMEDCT:71111008", "medgen:453382"], "information_content": 87.2}
{"id": "UniProtKB:P62191-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome regulatory subunit 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P62191-1", "PR:P62191-1", "ENSEMBL:ENSP00000261303", "ENSEMBL:ENSP00000261303.8"], "information_content": 100.0}
{"id": "UniProtKB:P54803-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "galactocerebrosidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P54803-1", "PR:P54803-1", "ENSEMBL:ENSP00000261304", "ENSEMBL:ENSP00000261304.2"], "information_content": 100.0}
{"id": "MONDO:0016218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Guillain-Barre syndrome", "equivalent_identifiers": ["MONDO:0016218", "DOID:12842", "orphanet:2103", "EFO:0007292", "UMLS:C0018378", "UMLS:C3542501", "MESH:D020275", "MEDDRA:10000813", "MEDDRA:10018766", "MEDDRA:10018767", "MEDDRA:10033803", "MEDDRA:10042812", "NCIT:C116345", "NCIT:C26790", "SNOMEDCT:129131007", "SNOMEDCT:193174005", "SNOMEDCT:40956001", "medgen:5399", "ICD10:G61.0"], "information_content": 83.6}
{"id": "MONDO:0014436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 8", "equivalent_identifiers": ["MONDO:0014436", "DOID:0110130", "OMIM:615985", "UMLS:C1859566", "MESH:C565917", "medgen:347181"], "information_content": 100.0}
{"id": "UniProtKB:Q96BP3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidylprolyl isomerase domain and WD repeat-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BP3-1", "PR:Q96BP3-1", "ENSEMBL:ENSP00000261308", "ENSEMBL:ENSP00000261308.4"], "information_content": 100.0}
{"id": "MONDO:0033363", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 54", "equivalent_identifiers": ["MONDO:0033363", "DOID:0080418", "OMIM:617391", "UMLS:C4479319", "medgen:1392637"], "information_content": 100.0}
{"id": "NCBIGene:5037", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PEBP1", "equivalent_identifiers": ["NCBIGene:5037", "ENSEMBL:ENSG00000089220", "HGNC:8630", "OMIM:604591", "UMLS:C1826565", "UniProtKB:D9IAI1", "UMLS:C0072359", "MESH:C511482", "UniProtKB:P30086", "PR:P30086", "ENSEMBL:ENSP00000261313", "ENSEMBL:ENSP00000261313.2"], "information_content": 81.7}
{"id": "NCBIGene:55034", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MOCOS", "equivalent_identifiers": ["NCBIGene:55034", "ENSEMBL:ENSG00000075643", "HGNC:18234", "OMIM:613274", "UMLS:C1425386", "UniProtKB:Q96EN8", "PR:Q96EN8", "ENSEMBL:ENSP00000261326", "ENSEMBL:ENSP00000261326.4", "UMLS:C0966117", "MESH:C425823"], "information_content": 95.4}
{"id": "UniProtKB:P20742-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pregnancy zone protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20742-1", "PR:P20742-1", "ENSEMBL:ENSP00000261336", "ENSEMBL:ENSP00000261336.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHP7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 2 member D isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHP7-3", "PR:Q9UHP7-3", "ENSEMBL:ENSP00000261340", "ENSEMBL:ENSP00000261340.7"], "information_content": 100.0}
{"id": "NCBIGene:4040", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRP6", "equivalent_identifiers": ["NCBIGene:4040", "ENSEMBL:ENSG00000070018", "HGNC:6698", "OMIM:603507", "UMLS:C1416918", "UniProtKB:F5H7J9", "ENSEMBL:ENSP00000442472", "ENSEMBL:ENSP00000442472.1", "ENSEMBL:ENSP00000486524", "ENSEMBL:ENSP00000486524.1", "UniProtKB:O75581", "PR:O75581", "ENSEMBL:ENSP00000261349", "ENSEMBL:ENSP00000261349.4", "ENSEMBL:ENSP00000486315", "ENSEMBL:ENSP00000486315.1", "UMLS:C1701019", "MESH:C555475"], "information_content": 88.2}
{"id": "MONDO:0008931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cenani-Lenz syndactyly syndrome", "equivalent_identifiers": ["MONDO:0008931", "DOID:0060221", "DOID:0090015", "OMIM:212780", "orphanet:3258", "UMLS:C1859309", "MESH:C538150", "SNOMEDCT:720633009", "medgen:395226", "ICD10:Q78.4"], "information_content": 100.0}
{"id": "NCBIGene:4001", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LMNB1", "equivalent_identifiers": ["NCBIGene:4001", "ENSEMBL:ENSG00000113368", "HGNC:6637", "OMIM:150340", "UMLS:C1334345", "UniProtKB:B4DZT3", "UniProtKB:P20700", "PR:P20700", "ENSEMBL:ENSP00000261366", "ENSEMBL:ENSP00000261366.5", "UMLS:C1570462", "MESH:C000727939"], "information_content": 90.9}
{"id": "UniProtKB:Q9Y6H5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synphilin-1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6H5-3", "PR:Q9Y6H5-3", "ENSEMBL:ENSP00000261367", "ENSEMBL:ENSP00000261367.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y343-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-24 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y343-1", "PR:Q9Y343-1", "ENSEMBL:ENSP00000261369", "ENSEMBL:ENSP00000261369.4"], "information_content": 100.0}
{"id": "MONDO:0001558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Potter sequence", "equivalent_identifiers": ["MONDO:0001558", "DOID:12594", "UMLS:C0178426", "MEDDRA:10036462", "NCIT:C40435", "SNOMEDCT:41962002", "medgen:472617", "ICD10:Q60.6"], "information_content": 95.4}
{"id": "NCBIGene:9956", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HS3ST2", "equivalent_identifiers": ["NCBIGene:9956", "ENSEMBL:ENSG00000122254", "HGNC:5195", "OMIM:604056", "UMLS:C1415728", "UniProtKB:Q9Y278", "PR:Q9Y278", "ENSEMBL:ENSP00000261374", "ENSEMBL:ENSP00000261374.3", "UMLS:C5771863", "MESH:C000726029"], "information_content": 95.4}
{"id": "NCBIGene:64131", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XYLT1", "equivalent_identifiers": ["NCBIGene:64131", "ENSEMBL:ENSG00000103489", "HGNC:15516", "OMIM:608124", "UMLS:C1423546", "UniProtKB:Q86Y38", "PR:Q86Y38", "ENSEMBL:ENSP00000261381", "ENSEMBL:ENSP00000261381.6", "ENSEMBL:ENSP00000500327", "ENSEMBL:ENSP00000500327.2", "UMLS:C1869314", "MESH:C000727841"], "information_content": 95.4}
{"id": "UniProtKB:Q8TD57-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal heavy chain 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TD57-1", "PR:Q8TD57-1", "ENSEMBL:ENSP00000261383", "ENSEMBL:ENSP00000261383.3"], "information_content": 100.0}
{"id": "DOID:0040015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sulfonamide allergy", "equivalent_identifiers": ["DOID:0040015", "UMLS:C0038757", "MEDDRA:10060787", "SNOMEDCT:91939003"]}
{"id": "NCBIGene:55746", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUP133", "equivalent_identifiers": ["NCBIGene:55746", "ENSEMBL:ENSG00000069248", "HGNC:18016", "OMIM:607613", "UMLS:C1425242", "UniProtKB:Q8WUM0", "PR:Q8WUM0", "ENSEMBL:ENSP00000261396", "ENSEMBL:ENSP00000261396.3", "UMLS:C1433965", "MESH:C440250"], "information_content": 86.3}
{"id": "UniProtKB:O60285-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NUAK family SNF1-like kinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60285-1", "PR:O60285-1", "ENSEMBL:ENSP00000261402", "ENSEMBL:ENSP00000261402.2"], "information_content": 100.0}
{"id": "UniProtKB:P04275-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "von Willebrand factor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P04275-1", "PR:P04275-1", "ENSEMBL:ENSP00000261405", "ENSEMBL:ENSP00000261405.5"], "information_content": 92.8}
{"id": "MONDO:0001197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "qualitative platelet defect", "equivalent_identifiers": ["MONDO:0001197", "DOID:11125", "UMLS:C0235604", "UMLS:C2585231", "NCIT:C171098", "SNOMEDCT:267532001", "medgen:536418", "ICD9:287.1"], "information_content": 92.8}
{"id": "MONDO:0013623", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 11", "equivalent_identifiers": ["MONDO:0013623", "DOID:0111057", "OMIM:614201", "orphanet:98885", "UMLS:C3280120", "SNOMEDCT:765977002", "medgen:481750"], "information_content": 100.0}
{"id": "UniProtKB:Q6P1A2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysophospholipid acyltransferase 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P1A2-1", "PR:Q6P1A2-1", "ENSEMBL:ENSP00000261407", "ENSEMBL:ENSP00000261407.4"], "information_content": 100.0}
{"id": "NCBIGene:3074", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HEXB", "equivalent_identifiers": ["NCBIGene:3074", "ENSEMBL:ENSG00000049860", "HGNC:4879", "OMIM:606873", "UMLS:C1415523", "UniProtKB:A0A024RAJ6", "UniProtKB:P07686", "PR:P07686", "ENSEMBL:ENSP00000261416", "ENSEMBL:ENSP00000261416.7", "UMLS:C1741065", "MESH:C513386", "UniProtKB:Q5URX0", "ENSEMBL:ENSP00000426285", "ENSEMBL:ENSP00000426285.1"], "information_content": 78.3}
{"id": "MONDO:0010099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tay-Sachs disease AB variant", "equivalent_identifiers": ["MONDO:0010099", "DOID:4795", "OMIM:272750", "orphanet:309246", "UMLS:C0268275", "MESH:D049290", "NCIT:C133084", "SNOMEDCT:71253000", "medgen:78657"], "information_content": 100.0}
{"id": "UniProtKB:P61086-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 K isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61086-1", "PR:P61086-1", "ENSEMBL:ENSP00000261427", "ENSEMBL:ENSP00000261427.5"], "information_content": 100.0}
{"id": "UniProtKB:Q86UW6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NEDD4-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UW6-1", "PR:Q86UW6-1", "ENSEMBL:ENSP00000261435", "ENSEMBL:ENSP00000261435.6"], "information_content": 100.0}
{"id": "MONDO:0013378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 10", "equivalent_identifiers": ["MONDO:0013378", "DOID:0080403", "OMIM:613705", "UMLS:C1866070", "MESH:C566605", "medgen:355621"], "information_content": 100.0}
{"id": "MONDO:0012142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 5", "equivalent_identifiers": ["MONDO:0012142", "DOID:0080399", "OMIM:608874", "UMLS:C1837210", "MESH:C563843", "medgen:373280"], "information_content": 100.0}
{"id": "UniProtKB:P57682-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "krueppel-like factor 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P57682-1", "PR:P57682-1", "ENSEMBL:ENSP00000261438", "ENSEMBL:ENSP00000261438.5"], "information_content": 100.0}
{"id": "UniProtKB:Q86TI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86TI0-1", "PR:Q86TI0-1", "ENSEMBL:ENSP00000261439", "ENSEMBL:ENSP00000261439.4"], "information_content": 100.0}
{"id": "MONDO:0004558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colloid adenoma", "equivalent_identifiers": ["MONDO:0004558", "DOID:8419", "UMLS:C0334329", "NCIT:C4161", "SNOMEDCT:26545006", "medgen:90763"], "information_content": 100.0}
{"id": "UniProtKB:Q5VWQ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VWQ0-1", "PR:Q5VWQ0-1", "ENSEMBL:ENSP00000261441", "ENSEMBL:ENSP00000261441.5", "ENSEMBL:ENSP00000479490", "ENSEMBL:ENSP00000479490.1"], "information_content": 100.0}
{"id": "DOID:0081144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "common variable immunodeficiency 1", "equivalent_identifiers": ["DOID:0081144"]}
{"id": "UniProtKB:O14958-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calsequestrin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14958-1", "PR:O14958-1", "ENSEMBL:ENSP00000261448", "ENSEMBL:ENSP00000261448.5"], "information_content": 100.0}
{"id": "UniProtKB:Q15172-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15172-1", "PR:Q15172-1", "ENSEMBL:ENSP00000261461", "ENSEMBL:ENSP00000261461.2"], "information_content": 100.0}
{"id": "UniProtKB:O00463-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TNF receptor-associated factor 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00463-1", "PR:O00463-1", "ENSEMBL:ENSP00000261464", "ENSEMBL:ENSP00000261464.5", "ENSEMBL:ENSP00000336825", "ENSEMBL:ENSP00000336825.2", "ENSEMBL:ENSP00000355971", "ENSEMBL:ENSP00000355971.3"], "information_content": 100.0}
{"id": "UniProtKB:Q969Q6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969Q6-1", "PR:Q969Q6-1", "ENSEMBL:ENSP00000261475", "ENSEMBL:ENSP00000261475.5"], "information_content": 100.0}
{"id": "MONDO:0005821", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "late congenital syphilis", "equivalent_identifiers": ["MONDO:0005821", "DOID:10039", "EFO:0007339", "UMLS:C0153132", "UMLS:C0153136", "UMLS:C0554634", "UMLS:C5848063", "MEDDRA:10023257", "MEDDRA:10023258", "MEDDRA:10032961", "SNOMEDCT:266126006", "SNOMEDCT:82323002", "medgen:640497", "icd11.foundation:1685932952", "ICD10:A50.40", "ICD10:A50.5", "ICD9:090.4", "ICD9:090.5"], "information_content": 100.0}
{"id": "MONDO:0005962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skeletal tuberculosis", "equivalent_identifiers": ["MONDO:0005962", "DOID:1639", "EFO:0007487", "UMLS:C0041324", "MESH:D014394", "SNOMEDCT:17653001", "medgen:21727", "ICD10:A18.0", "ICD9:015.9"], "information_content": 95.4}
{"id": "UniProtKB:P60900-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome subunit alpha type-6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P60900-1", "PR:P60900-1", "ENSEMBL:ENSP00000261479", "ENSEMBL:ENSP00000261479.4"], "information_content": 100.0}
{"id": "NCBIGene:4124", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAN2A1", "equivalent_identifiers": ["NCBIGene:4124", "ENSEMBL:ENSG00000112893", "HGNC:6824", "OMIM:154582", "UMLS:C1416995", "UniProtKB:Q16706", "PR:Q16706", "ENSEMBL:ENSP00000261483", "ENSEMBL:ENSP00000261483.4", "UMLS:C5891047"], "information_content": 89.4}
{"id": "MONDO:0006961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scrapie", "equivalent_identifiers": ["MONDO:0006961", "DOID:5434", "EFO:1001168", "UMLS:C0036457", "MESH:D012608", "medgen:19903"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 22 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPT9-1", "PR:Q9UPT9-1", "ENSEMBL:ENSP00000261497", "ENSEMBL:ENSP00000261497.4"], "information_content": 100.0}
{"id": "MONDO:0016163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 7", "equivalent_identifiers": ["MONDO:0016163", "DOID:0050958", "OMIM:164500", "orphanet:208508", "orphanet:94147", "UMLS:C0752125", "UMLS:C5848204", "NCIT:C126562", "SNOMEDCT:1156796002", "SNOMEDCT:715726000", "medgen:156006"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPM9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B9 domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPM9-1", "PR:Q9UPM9-1", "ENSEMBL:ENSP00000261499", "ENSEMBL:ENSP00000261499.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5M775-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytospin-B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5M775-1", "PR:Q5M775-1", "ENSEMBL:ENSP00000261503", "ENSEMBL:ENSP00000261503.5", "ENSEMBL:ENSP00000378898", "ENSEMBL:ENSP00000378898.4", "ENSEMBL:ENSP00000502924", "ENSEMBL:ENSP00000502924.1", "ENSEMBL:ENSP00000503971", "ENSEMBL:ENSP00000503971.1", "ENSEMBL:ENSP00000504211", "ENSEMBL:ENSP00000504211.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15800-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methylsterol monooxygenase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15800-1", "PR:Q15800-1", "ENSEMBL:ENSP00000261507", "ENSEMBL:ENSP00000261507.6"], "information_content": 100.0}
{"id": "UniProtKB:P51790-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H(+)/Cl(-) exchange transporter 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51790-2", "PR:P51790-2", "ENSEMBL:ENSP00000261514", "ENSEMBL:ENSP00000261514.5"], "information_content": 100.0}
{"id": "UniProtKB:Q659A1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "little elongation complex subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q659A1-1", "PR:Q659A1-1", "ENSEMBL:ENSP00000261520", "ENSEMBL:ENSP00000261520.4"], "information_content": 100.0}
{"id": "MONDO:0001392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monocular exotropia", "equivalent_identifiers": ["MONDO:0001392", "DOID:11853", "UMLS:C0152206", "MEDDRA:10027872", "SNOMEDCT:5725006", "medgen:57752", "icd11.foundation:1732547896", "ICD10:H50.11", "ICD9:378.11"], "information_content": 100.0}
{"id": "MONDO:0004677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tinea nigra", "equivalent_identifiers": ["MONDO:0004677", "DOID:8912", "UMLS:C0152067", "MESH:C000656904", "MEDDRA:10043871", "SNOMEDCT:183342005", "SNOMEDCT:185367005", "SNOMEDCT:186289000", "medgen:508865", "icd11.foundation:1723085409", "ICD10:B36.1", "ICD9:111.1"], "information_content": 100.0}
{"id": "UniProtKB:P35398-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor ROR-alpha isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P35398-1", "PR:P35398-1", "ENSEMBL:ENSP00000261523", "ENSEMBL:ENSP00000261523.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWQ4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G patch domain-containing protein 2-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWQ4-3", "PR:Q9NWQ4-3", "ENSEMBL:ENSP00000261530", "ENSEMBL:ENSP00000261530.7"], "information_content": 100.0}
{"id": "MONDO:0005841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maxillary neoplasm", "equivalent_identifiers": ["MONDO:0005841", "DOID:4618", "EFO:0007360", "UMLS:C0024954", "MESH:D008441", "MEDDRA:10056318", "SNOMEDCT:126550004", "medgen:44312"], "information_content": 85.5}
{"id": "UniProtKB:Q9UKY4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein O-mannosyl-transferase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKY4-1", "PR:Q9UKY4-1", "ENSEMBL:ENSP00000261534", "ENSEMBL:ENSP00000261534.4"], "information_content": 100.0}
{"id": "NCBIGene:57534", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MIB1", "equivalent_identifiers": ["NCBIGene:57534", "ENSEMBL:ENSG00000101752", "HGNC:21086", "OMIM:608677", "UMLS:C1537692", "UniProtKB:Q86YT6", "PR:Q86YT6", "ENSEMBL:ENSP00000261537", "ENSEMBL:ENSP00000261537.6", "UMLS:C1741198", "MESH:C513496"], "information_content": 90.9}
{"id": "UniProtKB:Q9NX78-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein O-mannosyl-transferase TMEM260 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NX78-1", "PR:Q9NX78-1", "ENSEMBL:ENSP00000261556", "ENSEMBL:ENSP00000261556.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0R1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-5 complex subunit mu-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0R1-1", "PR:Q9H0R1-1", "ENSEMBL:ENSP00000261558", "ENSEMBL:ENSP00000261558.3"], "information_content": 100.0}
{"id": "MONDO:0014225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemochromatosis type 5", "equivalent_identifiers": ["MONDO:0014225", "DOID:0111031", "OMIM:615517", "orphanet:247790", "UMLS:C1851316", "MESH:C565020", "SNOMEDCT:1230310007", "medgen:341982"], "information_content": 100.0}
{"id": "UniProtKB:O00410-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "importin-5 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O00410-3", "PR:O00410-3", "ENSEMBL:ENSP00000261574", "ENSEMBL:ENSP00000261574.5"], "information_content": 100.0}
{"id": "NCBIGene:79728", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PALB2", "equivalent_identifiers": ["NCBIGene:79728", "ENSEMBL:ENSG00000083093", "HGNC:26144", "OMIM:610355", "UMLS:C1835898", "UniProtKB:A0A8V8TLC8", "ENSEMBL:ENSP00000513289", "ENSEMBL:ENSP00000513289.1", "UniProtKB:A0A8V8TMK8", "ENSEMBL:ENSP00000513285", "ENSEMBL:ENSP00000513285.1", "UniProtKB:A0AAQ5BGU0", "ENSEMBL:ENSP00000519076", "ENSEMBL:ENSP00000519076.1", "UniProtKB:H3BN63", "ENSEMBL:ENSP00000454703", "ENSEMBL:ENSP00000454703.2", "ENSEMBL:ENSP00000513284", "ENSEMBL:ENSP00000513284.1", "UniProtKB:I3L1Z5", "ENSEMBL:ENSP00000459237", "ENSEMBL:ENSP00000459237.2", "UniProtKB:Q86YC2", "PR:Q86YC2", "ENSEMBL:ENSP00000261584", "ENSEMBL:ENSP00000261584.4", "UMLS:C1744034", "MESH:C512790"], "information_content": 72.3}
{"id": "MONDO:0002817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adrenal Cancer", "equivalent_identifiers": ["MONDO:0002817", "DOID:3953", "UMLS:C0750887", "MESH:D000310", "MEDDRA:10001378", "MEDDRA:10025696", "MEDDRA:10026520", "MEDDRA:10073152", "NCIT:C9338", "SNOMEDCT:363355002", "medgen:152909", "ICD10:C74", "ICD9:194.0"], "information_content": 72.9}
{"id": "MONDO:0000920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "duodenum cancer", "equivalent_identifiers": ["MONDO:0000920", "DOID:10021", "UMLS:C0153426", "MESH:D004379", "MEDDRA:10025885", "MEDDRA:10025888", "NCIT:C9328", "SNOMEDCT:363403002", "medgen:56301", "ICD10:C17.0", "ICD9:152.0"], "information_content": 83.1}
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{"id": "MONDO:0005911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pharyngoconjunctival fever", "equivalent_identifiers": ["MONDO:0005911", "DOID:13801", "EFO:0007434", "UMLS:C0001487", "UMLS:C0031351", "MESH:D000258", "MEDDRA:10034842", "NCIT:C34924", "SNOMEDCT:70385007", "medgen:14722", "ICD9:077.2"], "information_content": 100.0}
{"id": "UniProtKB:O94818-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolar protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94818-1", "PR:O94818-1", "ENSEMBL:ENSP00000261592", "ENSEMBL:ENSP00000261592.4"], "information_content": 100.0}
{"id": "MONDO:0011631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemochromatosis type 4", "equivalent_identifiers": ["MONDO:0011631", "DOID:0111028", "OMIM:606069", "orphanet:647834", "orphanet:648562", "UMLS:C1853733", "MESH:C537249", "MEDDRA:10083956", "SNOMEDCT:1303911001", "SNOMEDCT:719975002", "medgen:340044"], "information_content": 100.0}
{"id": "MONDO:0008267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome V", "equivalent_identifiers": ["MONDO:0008267", "DOID:0060375", "OMIM:174300", "orphanet:2919", "UMLS:C1868118", "MESH:C557819", "SNOMEDCT:722105002", "medgen:358131"], "information_content": 100.0}
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{"id": "NCBIGene:9663", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LPIN2", "equivalent_identifiers": ["NCBIGene:9663", "ENSEMBL:ENSG00000101577", "HGNC:14450", "OMIM:605519", "UMLS:C1422658", "UniProtKB:Q92539", "PR:Q92539", "ENSEMBL:ENSP00000261596", "ENSEMBL:ENSP00000261596.4", "ENSEMBL:ENSP00000504857", "ENSEMBL:ENSP00000504857.1", "ENSEMBL:ENSP00000513062", "ENSEMBL:ENSP00000513062.1", "UMLS:C1611327", "MESH:C502575"], "information_content": 95.4}
{"id": "MONDO:0015597", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pustulosis palmaris et plantaris", "equivalent_identifiers": ["MONDO:0015597", "DOID:4398", "orphanet:163927", "UMLS:C0030246", "UMLS:C0263365", "MEDDRA:10050185", "NCIT:C34888", "SNOMEDCT:27520001", "SNOMEDCT:81271001", "medgen:45290", "icd11.foundation:877172115", "ICD10:L40.3", "HP:0100847"], "information_content": 100.0}
{"id": "DOID:0070648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cherubism", "equivalent_identifiers": ["DOID:0070648", "DOID:1856", "OMIM:118400", "UMLS:C0008029", "MESH:D002636", "MEDDRA:10070535", "MEDDRA:10070536", "NCIT:C84630", "SNOMEDCT:76098004"], "information_content": 92.8}
{"id": "MONDO:0001266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erysipelas", "equivalent_identifiers": ["MONDO:0001266", "DOID:11330", "EFO:1001462", "UMLS:C0014714", "UMLS:C0014733", "MESH:D004886", "MEDDRA:10015124", "MEDDRA:10015125", "MEDDRA:10015145", "SNOMEDCT:44653001", "medgen:41855", "icd11.foundation:1651247891", "ICD10:A46", "ICD9:035", "HP:0001055"], "information_content": 100.0}
{"id": "MONDO:0006662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aseptic meningitis", "equivalent_identifiers": ["MONDO:0006662", "DOID:12157", "EFO:1000823", "UMLS:C0025290", "MESH:D008582", "MEDDRA:10003458", "MEDDRA:10027201", "NCIT:C118299", "SNOMEDCT:301770000", "medgen:7534", "icd11.foundation:453360366", "ICD10:G03.0", "HP:0033430"], "information_content": 90.9}
{"id": "NCBIGene:10403", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDC80", "equivalent_identifiers": ["NCBIGene:10403", "ENSEMBL:ENSG00000080986", "HGNC:16909", "OMIM:607272", "UMLS:C1424628", "UniProtKB:A8K031", "UniProtKB:O14777", "PR:O14777", "ENSEMBL:ENSP00000261597", "ENSEMBL:ENSP00000261597.4", "UMLS:C1438393", "MESH:C120529"], "information_content": 83.6}
{"id": "UniProtKB:Q96FV9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "THO complex subunit 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FV9-1", "PR:Q96FV9-1", "ENSEMBL:ENSP00000261600", "ENSEMBL:ENSP00000261600.6"], "information_content": 100.0}
{"id": "UniProtKB:P54578-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P54578-1", "PR:P54578-1", "ENSEMBL:ENSP00000261601", "ENSEMBL:ENSP00000261601.6"], "information_content": 100.0}
{"id": "NCBIGene:8924", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HERC2", "equivalent_identifiers": ["NCBIGene:8924", "ENSEMBL:ENSG00000128731", "HGNC:4868", "OMIM:605837", "UMLS:C1415512", "UniProtKB:A8KAQ8", "UniProtKB:O95714", "PR:O95714", "ENSEMBL:ENSP00000261609", "ENSEMBL:ENSP00000261609.8", "UMLS:C1439265", "MESH:C118566"], "information_content": 83.6}
{"id": "NCBIGene:8140", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC7A5", "equivalent_identifiers": ["NCBIGene:8140", "ENSEMBL:ENSG00000103257", "HGNC:11063", "OMIM:600182", "UMLS:C1442753", "UniProtKB:Q01650", "PR:Q01650", "ENSEMBL:ENSP00000261622", "ENSEMBL:ENSP00000261622.4", "UMLS:C5226805", "MESH:C000654813"], "information_content": 90.9}
{"id": "NCBIGene:1535", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYBA", "equivalent_identifiers": ["NCBIGene:1535", "ENSEMBL:ENSG00000051523", "HGNC:2577", "OMIM:608508", "UMLS:C1413843", "UniProtKB:B4DT46", "UniProtKB:H3BNP7", "ENSEMBL:ENSP00000454951", "ENSEMBL:ENSP00000454951.1", "UniProtKB:P13498", "PR:P13498", "ENSEMBL:ENSP00000261623", "ENSEMBL:ENSP00000261623.3", "UMLS:C0254237", "MESH:C086986"], "information_content": 95.4}
{"id": "UniProtKB:P40616-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P40616-1", "PR:P40616-1", "ENSEMBL:ENSP00000261636", "ENSEMBL:ENSP00000261636.8"], "information_content": 100.0}
{"id": "NCBIGene:27340", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UTP20", "equivalent_identifiers": ["NCBIGene:27340", "ENSEMBL:ENSG00000120800", "HGNC:17897", "OMIM:612822", "UMLS:C1823612", "UniProtKB:O75691", "PR:O75691", "ENSEMBL:ENSP00000261637", "ENSEMBL:ENSP00000261637.4", "UMLS:C1308634", "MESH:C113527"], "information_content": 88.2}
{"id": "MONDO:0011568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 25", "equivalent_identifiers": ["MONDO:0011568", "DOID:0110555", "OMIM:605583", "UMLS:C1854158", "MESH:C565319", "medgen:344221"], "information_content": 100.0}
{"id": "MONDO:0006957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "root caries", "equivalent_identifiers": ["MONDO:0006957", "DOID:14089", "EFO:1001163", "UMLS:C0162644", "MESH:D017213", "SNOMEDCT:234975001", "SNOMEDCT:30512007", "medgen:57954", "ICD9:521.08"], "information_content": 100.0}
{"id": "UniProtKB:Q12887-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protoheme IX farnesyltransferase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12887-1", "PR:Q12887-1", "ENSEMBL:ENSP00000261643", "ENSEMBL:ENSP00000261643.3", "ENSEMBL:ENSP00000499396", "ENSEMBL:ENSP00000499396.1"], "information_content": 100.0}
{"id": "NCBIGene:54902", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTC19", "equivalent_identifiers": ["NCBIGene:54902", "ENSEMBL:ENSG00000011295", "HGNC:26006", "OMIM:613814", "UMLS:C1540115", "UniProtKB:Q6DKK2", "PR:Q6DKK2", "ENSEMBL:ENSP00000261647", "ENSEMBL:ENSP00000261647.5", "UMLS:C3180718", "MESH:C557528"], "information_content": 100.0}
{"id": "MONDO:0006766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gait apraxia", "equivalent_identifiers": ["MONDO:0006766", "DOID:4260", "EFO:1000944", "UMLS:C0751838", "UMLS:C1510417", "MESH:D020235", "MEDDRA:10070635", "SNOMEDCT:30767006", "medgen:266930", "HP:0010521"], "information_content": 100.0}
{"id": "UniProtKB:O14836-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 13B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14836-1", "PR:O14836-1", "ENSEMBL:ENSP00000261652", "ENSEMBL:ENSP00000261652.2"], "information_content": 100.0}
{"id": "UniProtKB:O15034-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RIMS-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15034-1", "PR:O15034-1", "ENSEMBL:ENSP00000261655", "ENSEMBL:ENSP00000261655.4"], "information_content": 100.0}
{"id": "MONDO:0011355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 7", "equivalent_identifiers": ["MONDO:0011355", "DOID:0111012", "OMIM:603649", "UMLS:C1863634", "MESH:C566350", "medgen:355026"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZS9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional apoptosis regulator isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZS9-1", "PR:Q9NZS9-1", "ENSEMBL:ENSP00000261658", "ENSEMBL:ENSP00000261658.2", "ENSEMBL:ENSP00000478190", "ENSEMBL:ENSP00000478190.1"], "information_content": 100.0}
{"id": "NCBIGene:3839", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KPNA3", "equivalent_identifiers": ["NCBIGene:3839", "ENSEMBL:ENSG00000102753", "HGNC:6396", "OMIM:601892", "UMLS:C1416701", "UniProtKB:O00505", "PR:O00505", "ENSEMBL:ENSP00000261667", "ENSEMBL:ENSP00000261667.3", "UMLS:C1430814", "MESH:C106306"], "information_content": 85.5}
{"id": "UniProtKB:Q8N3R9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein PALS1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3R9-1", "PR:Q8N3R9-1", "ENSEMBL:ENSP00000261681", "ENSEMBL:ENSP00000261681.4", "ENSEMBL:ENSP00000503321", "ENSEMBL:ENSP00000503321.1", "ENSEMBL:ENSP00000503322", "ENSEMBL:ENSP00000503322.1", "ENSEMBL:ENSP00000503517", "ENSEMBL:ENSP00000503517.1", "ENSEMBL:ENSP00000503713", "ENSEMBL:ENSP00000503713.1"], "information_content": 100.0}
{"id": "MONDO:0004731", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central sleep apnea syndrome", "equivalent_identifiers": ["MONDO:0004731", "DOID:9220", "OMIM:107640", "UMLS:C0520680", "UMLS:C3887547", "MESH:D020182", "MEDDRA:10007975", "MEDDRA:10055576", "NCIT:C116046", "NCIT:C27169", "SNOMEDCT:27405005", "medgen:854402", "HP:0010536"], "information_content": 88.2}
{"id": "UniProtKB:O14519-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 2-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14519-1", "PR:O14519-1", "ENSEMBL:ENSP00000261692", "ENSEMBL:ENSP00000261692.2"], "information_content": 100.0}
{"id": "DOID:0060520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "penicillin allergy", "equivalent_identifiers": ["DOID:0060520"]}
{"id": "MONDO:0016453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "foodborne botulism", "equivalent_identifiers": ["MONDO:0016453", "DOID:0050352", "orphanet:228371", "UMLS:C1739094", "NCIT:C128341", "SNOMEDCT:398523009", "medgen:320728", "icd11.foundation:2033726602"], "information_content": 100.0}
{"id": "UniProtKB:Q8WTV0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "scavenger receptor class B member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WTV0-2", "PR:Q8WTV0-2", "ENSEMBL:ENSP00000261693", "ENSEMBL:ENSP00000261693.6"], "information_content": 100.0}
{"id": "NCBIGene:51637", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTRAF", "equivalent_identifiers": ["NCBIGene:51637", "ENSEMBL:ENSG00000087302", "HGNC:23169", "OMIM:610858", "UMLS:C1427962", "UniProtKB:Q549M8", "UMLS:C1097322", "MESH:C435504", "UniProtKB:Q9Y224", "PR:Q9Y224", "ENSEMBL:ENSP00000261700", "ENSEMBL:ENSP00000261700.3"], "information_content": 95.4}
{"id": "MONDO:0019618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sheehan syndrome", "equivalent_identifiers": ["MONDO:0019618", "DOID:9476", "orphanet:91355", "UMLS:C0242342", "MEDDRA:10036297", "MEDDRA:10040537", "NCIT:C35300", "SNOMEDCT:237684005", "SNOMEDCT:290653008", "medgen:116569", "icd11.foundation:421687193"], "information_content": 100.0}
{"id": "MONDO:0003568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disorder of optic chiasm", "equivalent_identifiers": ["MONDO:0003568", "DOID:5655", "UMLS:C0155307", "MEDDRA:10013331", "MEDDRA:10067348", "SNOMEDCT:70476006", "medgen:509905", "icd11.foundation:927459952", "ICD10:H47.4", "ICD9:377.5"], "information_content": 100.0}
{"id": "UniProtKB:P31645-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium-dependent serotonin transporter isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P31645-1", "PR:P31645-1", "ENSEMBL:ENSP00000261707", "ENSEMBL:ENSP00000261707.3", "ENSEMBL:ENSP00000385822", "ENSEMBL:ENSP00000385822.2", "ENSEMBL:ENSP00000498537", "ENSEMBL:ENSP00000498537.1"], "information_content": 100.0}
{"id": "MONDO:0006640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal gland hyperfunction", "equivalent_identifiers": ["MONDO:0006640", "DOID:3947", "EFO:1000797", "UMLS:C0001622", "UMLS:C0342443", "UMLS:C4025651", "MESH:D000308", "MEDDRA:10001332", "MEDDRA:10001341", "MEDDRA:10001365", "MEDDRA:10020561", "MEDDRA:10020562", "MEDDRA:10020563", "MEDDRA:10020564", "MEDDRA:10020609", "MEDDRA:10020610", "MEDDRA:10020611", "MEDDRA:10020612", "MEDDRA:10075909", "MEDDRA:10075914", "NCIT:C113208", "SNOMEDCT:237735008", "SNOMEDCT:275437005", "SNOMEDCT:47270006", "medgen:7899", "HP:0003118"], "information_content": 83.6}
{"id": "NCBIGene:55813", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UTP6", "equivalent_identifiers": ["NCBIGene:55813", "ENSEMBL:ENSG00000108651", "HGNC:18279", "OMIM:620948", "UMLS:C1823608", "UniProtKB:Q9NYH9", "PR:Q9NYH9", "ENSEMBL:ENSP00000261708", "ENSEMBL:ENSP00000261708.4", "UMLS:C2000748", "MESH:C524211"], "information_content": 90.9}
{"id": "MONDO:0012964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 15q26-qter deletion syndrome", "equivalent_identifiers": ["MONDO:0012964", "DOID:0060397", "OMIM:612626", "orphanet:1596", "UMLS:C2675463", "UMLS:C4707662", "MESH:C567232", "SNOMEDCT:766050000", "medgen:390804"], "information_content": 100.0}
{"id": "UniProtKB:O00231-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome non-ATPase regulatory subunit 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00231-1", "PR:O00231-1", "ENSEMBL:ENSP00000261712", "ENSEMBL:ENSP00000261712.3", "ENSEMBL:ENSP00000393185", "ENSEMBL:ENSP00000393185.2", "ENSEMBL:ENSP00000497128", "ENSEMBL:ENSP00000497128.1"], "information_content": 100.0}
{"id": "NCBIGene:642", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BLMH", "equivalent_identifiers": ["NCBIGene:642", "ENSEMBL:ENSG00000108578", "HGNC:1059", "OMIM:602403", "UMLS:C1412800", "UniProtKB:Q13867", "PR:Q13867", "ENSEMBL:ENSP00000261714", "ENSEMBL:ENSP00000261714.6"], "information_content": 85.5}
{"id": "UniProtKB:Q7L7X3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase TAO1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L7X3-1", "PR:Q7L7X3-1", "ENSEMBL:ENSP00000261716", "ENSEMBL:ENSP00000261716.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0C5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0C5-1", "PR:Q9H0C5-1", "ENSEMBL:ENSP00000261721", "ENSEMBL:ENSP00000261721.4"], "information_content": 100.0}
{"id": "MONDO:0017043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital mesoblastic nephroma", "equivalent_identifiers": ["MONDO:0017043", "DOID:4773", "orphanet:2665", "UMLS:C1332965", "NCIT:C6569", "medgen:232058", "icd11.foundation:2001572901", "HP:0100881"], "information_content": 87.2}
{"id": "MONDO:0005164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrosarcoma", "equivalent_identifiers": ["MONDO:0005164", "DOID:3355", "orphanet:2030", "EFO:0002087", "UMLS:C0016057", "UMLS:C1302856", "UMLS:C1336021", "MESH:D005354", "MEDDRA:10016632", "MEDDRA:10016634", "MEDDRA:10016637", "NCIT:C3043", "NCIT:C6605", "SNOMEDCT:1290852005", "SNOMEDCT:400163001", "SNOMEDCT:443250000", "SNOMEDCT:53654007", "medgen:5178", "HP:0100244"], "information_content": 73.1}
{"id": "NCBIGene:23316", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CUX2", "equivalent_identifiers": ["NCBIGene:23316", "ENSEMBL:ENSG00000111249", "HGNC:19347", "OMIM:610648", "UMLS:C1426179", "UniProtKB:O14529", "PR:O14529", "ENSEMBL:ENSP00000261726", "ENSEMBL:ENSP00000261726.6", "UMLS:C5196937", "MESH:C000630548"], "information_content": 100.0}
{"id": "NCBIGene:64211", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LHX5", "equivalent_identifiers": ["NCBIGene:64211", "ENSEMBL:ENSG00000089116", "HGNC:14216", "OMIM:605992", "UMLS:C1422491", "UniProtKB:Q9H2C1", "PR:Q9H2C1", "ENSEMBL:ENSP00000261731", "ENSEMBL:ENSP00000261731.2", "UMLS:C1453611", "MESH:C491186"], "information_content": 95.4}
{"id": "MONDO:0000727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scapuloperoneal myopathy", "equivalent_identifiers": ["MONDO:0000727", "DOID:0060253", "UMLS:C2931268", "MESH:C536624", "medgen:419759", "HP:0009054"], "information_content": 92.8}
{"id": "UniProtKB:P05091-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aldehyde dehydrogenase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P05091-1", "PR:P05091-1", "ENSEMBL:ENSP00000261733", "ENSEMBL:ENSP00000261733.2"], "information_content": 100.0}
{"id": "MONDO:0030894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AMED syndrome", "equivalent_identifiers": ["MONDO:0030894", "DOID:0080952", "OMIM:619151", "orphanet:611216", "UMLS:C5436906", "NCIT:C185246", "SNOMEDCT:1332385000", "medgen:1754257"], "information_content": 100.0}
{"id": "UniProtKB:P30040-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endoplasmic reticulum resident protein 29 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30040-1", "PR:P30040-1", "ENSEMBL:ENSP00000261735", "ENSEMBL:ENSP00000261735.3"], "information_content": 100.0}
{"id": "NCBIGene:88455", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD13A", "equivalent_identifiers": ["NCBIGene:88455", "ENSEMBL:ENSG00000076513", "HGNC:21268", "OMIM:615123", "UMLS:C1823666", "UniProtKB:Q3ZTS7", "UMLS:C3711023", "MESH:C584194", "UniProtKB:Q8IZ07", "PR:Q8IZ07", "ENSEMBL:ENSP00000261739", "ENSEMBL:ENSP00000261739.4", "UniProtKB:Q9Y5A3"], "information_content": 100.0}
{"id": "UniProtKB:Q14CX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-alpha-acetyltransferase 25, NatB auxiliary subunit isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14CX7-1", "PR:Q14CX7-1", "ENSEMBL:ENSP00000261745", "ENSEMBL:ENSP00000261745.4"], "information_content": 100.0}
{"id": "MONDO:0010671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, syndromic 1", "equivalent_identifiers": ["MONDO:0010671", "DOID:0111799", "OMIM:309800", "orphanet:85275", "UMLS:C0796016", "UMLS:C1844948", "MESH:C537464", "SNOMEDCT:438504004", "SNOMEDCT:717222003", "medgen:162898"], "information_content": 100.0}
{"id": "UniProtKB:P30926-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal acetylcholine receptor subunit beta-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30926-1", "PR:P30926-1", "ENSEMBL:ENSP00000261751", "ENSEMBL:ENSP00000261751.3"], "information_content": 100.0}
{"id": "UniProtKB:Q14696-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LRP chaperone MESD isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14696-1", "PR:Q14696-1", "ENSEMBL:ENSP00000261758", "ENSEMBL:ENSP00000261758.4", "ENSEMBL:ENSP00000453430", "ENSEMBL:ENSP00000453430.1", "ENSEMBL:ENSP00000482455", "ENSEMBL:ENSP00000482455.1"], "information_content": 100.0}
{"id": "UniProtKB:P12830-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P12830-1", "PR:P12830-1", "ENSEMBL:ENSP00000261769", "ENSEMBL:ENSP00000261769.4"], "information_content": 100.0}
{"id": "MONDO:0008596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichorhinophalangeal syndrome type I", "equivalent_identifiers": ["MONDO:0008596", "DOID:0080376", "DOID:14743", "OMIM:190350", "UMLS:C0432233", "MESH:C536820", "NCIT:C75109", "SNOMEDCT:254091006", "medgen:140929"], "information_content": 92.8}
{"id": "UniProtKB:P49588-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alanine--tRNA ligase, cytoplasmic isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49588-1", "PR:P49588-1", "ENSEMBL:ENSP00000261772", "ENSEMBL:ENSP00000261772.8", "ENSEMBL:ENSP00000501924", "ENSEMBL:ENSP00000501924.1", "ENSEMBL:ENSP00000502247", "ENSEMBL:ENSP00000502247.1", "ENSEMBL:ENSP00000502797", "ENSEMBL:ENSP00000502797.1"], "information_content": 100.0}
{"id": "UniProtKB:Q08AM6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein VAC14 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08AM6-1", "PR:Q08AM6-1", "ENSEMBL:ENSP00000261776", "ENSEMBL:ENSP00000261776.5"], "information_content": 100.0}
{"id": "NCBIGene:79613", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TANGO6", "equivalent_identifiers": ["NCBIGene:79613", "ENSEMBL:ENSG00000103047", "HGNC:25749", "OMIM:620188", "UMLS:C1823299", "UniProtKB:B3KTB6", "UniProtKB:Q9C0B7", "PR:Q9C0B7", "ENSEMBL:ENSP00000261778", "ENSEMBL:ENSP00000261778.1"], "information_content": 100.0}
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{"id": "NCBIGene:384", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARG2", "equivalent_identifiers": ["NCBIGene:384", "ENSEMBL:ENSG00000081181", "HGNC:664", "OMIM:107830", "UMLS:C1412516", "UniProtKB:P78540", "PR:P78540", "ENSEMBL:ENSP00000261783", "ENSEMBL:ENSP00000261783.3", "UMLS:C1311904", "UMLS:C5848930", "MESH:C477631"], "information_content": 92.8}
{"id": "UniProtKB:O15321-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane 9 superfamily member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15321-1", "PR:O15321-1", "ENSEMBL:ENSP00000261789", "ENSEMBL:ENSP00000261789.4", "ENSEMBL:ENSP00000494320", "ENSEMBL:ENSP00000494320.1"], "information_content": 100.0}
{"id": "NCBIGene:27190", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL17B", "equivalent_identifiers": ["NCBIGene:27190", "ENSEMBL:ENSG00000127743", "HGNC:5982", "OMIM:604627", "UMLS:C1416389", "UniProtKB:Q9UHF5", "PR:Q9UHF5", "ENSEMBL:ENSP00000261796", "ENSEMBL:ENSP00000261796.3", "UMLS:C1872932", "MESH:C515924"], "information_content": 95.4}
{"id": "UniProtKB:P52848-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P52848-1", "PR:P52848-1", "ENSEMBL:ENSP00000261797", "ENSEMBL:ENSP00000261797.6"], "information_content": 100.0}
{"id": "UniProtKB:P48729-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "casein kinase I isoform alpha isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P48729-2", "PR:P48729-2", "ENSEMBL:ENSP00000261798", "ENSEMBL:ENSP00000261798.6"], "information_content": 100.0}
{"id": "MONDO:0005746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "enterobiasis", "equivalent_identifiers": ["MONDO:0005746", "DOID:7457", "EFO:0007254", "UMLS:C0030100", "UMLS:C0086227", "MESH:D010123", "MESH:D017229", "MEDDRA:10014881", "MEDDRA:10014882", "MEDDRA:10014883", "MEDDRA:10035070", "MEDDRA:10043499", "MEDDRA:10062569", "NCIT:C128396", "SNOMEDCT:266162007", "SNOMEDCT:360419005", "medgen:88540", "icd11.foundation:580098307", "ICD10:B80"], "information_content": 100.0}
{"id": "UniProtKB:P09619-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "platelet-derived growth factor receptor beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P09619-1", "PR:P09619-1", "ENSEMBL:ENSP00000261799", "ENSEMBL:ENSP00000261799.4"], "information_content": 100.0}
{"id": "MONDO:0008947", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fahr's disease", "equivalent_identifiers": ["MONDO:0008947", "DOID:0060230", "OMIM.PS:213600", "orphanet:1980", "UMLS:C0393589", "UMLS:C0393590", "MESH:C536275", "MEDDRA:10059626", "SNOMEDCT:110997000", "SNOMEDCT:230311004", "icd11.foundation:1081370436"], "information_content": 84.8}
{"id": "NCBIGene:2196", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAT2", "equivalent_identifiers": ["NCBIGene:2196", "ENSEMBL:ENSG00000086570", "HGNC:3596", "OMIM:604269", "UMLS:C1414535", "UniProtKB:Q6PIA2", "UMLS:C1435182", "MESH:C502404", "UniProtKB:Q9NYQ8", "PR:Q9NYQ8", "ENSEMBL:ENSP00000261800", "ENSEMBL:ENSP00000261800.5"], "information_content": 95.4}
{"id": "MONDO:0014568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 73", "equivalent_identifiers": ["MONDO:0014568", "DOID:0110818", "OMIM:616282", "orphanet:444099", "UMLS:C5568981", "SNOMEDCT:1187468005", "medgen:1800404"], "information_content": 100.0}
{"id": "NCBIGene:5201", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PFDN1", "equivalent_identifiers": ["NCBIGene:5201", "ENSEMBL:ENSG00000113068", "HGNC:8866", "OMIM:604897", "UMLS:C1418483", "UniProtKB:O60925", "PR:O60925", "ENSEMBL:ENSP00000261813", "ENSEMBL:ENSP00000261813.4", "UMLS:C1454516"], "information_content": 89.4}
{"id": "MONDO:0012238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2", "equivalent_identifiers": ["MONDO:0012238", "DOID:0111517", "OMIM:609283", "UMLS:C1836460", "MESH:C563750", "medgen:322925"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJX4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anaphase-promoting complex subunit 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJX4-1", "PR:Q9UJX4-1", "ENSEMBL:ENSP00000261819", "ENSEMBL:ENSP00000261819.3"], "information_content": 100.0}
{"id": "MONDO:0014219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alacrima, achalasia, and intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0014219", "DOID:0112321", "OMIM:615510", "UMLS:C4706563", "NCIT:C202544", "SNOMEDCT:763741001", "medgen:1640947"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6A2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cholesterol 24-hydroxylase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6A2-1", "PR:Q9Y6A2-1", "ENSEMBL:ENSP00000261835", "ENSEMBL:ENSP00000261835.3"], "information_content": 100.0}
{"id": "UniProtKB:O14775-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein subunit beta-5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14775-1", "PR:O14775-1", "ENSEMBL:ENSP00000261837", "ENSEMBL:ENSP00000261837.7"], "information_content": 100.0}
{"id": "MONDO:0014953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gnb5-related intellectual disability-cardiac arrhythmia syndrome", "equivalent_identifiers": ["MONDO:0014953", "DOID:0081008", "OMIM:617173", "orphanet:542306", "UMLS:C5568877", "NCIT:C164154", "SNOMEDCT:1186711002", "medgen:1800300"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQX4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-Vc isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQX4-1", "PR:Q9NQX4-1", "ENSEMBL:ENSP00000261839", "ENSEMBL:ENSP00000261839.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPM8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-4 complex subunit epsilon-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPM8-1", "PR:Q9UPM8-1", "ENSEMBL:ENSP00000261842", "ENSEMBL:ENSP00000261842.5"], "information_content": 100.0}
{"id": "NCBIGene:5597", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAPK6", "equivalent_identifiers": ["NCBIGene:5597", "ENSEMBL:ENSG00000069956", "HGNC:6879", "OMIM:602904", "UMLS:C1334480", "UniProtKB:Q16659", "PR:Q16659", "ENSEMBL:ENSP00000261845", "ENSEMBL:ENSP00000261845.5", "ENSEMBL:ENSP00000505601", "ENSEMBL:ENSP00000505601.1", "ENSEMBL:ENSP00000505862", "ENSEMBL:ENSP00000505862.1", "ENSEMBL:ENSP00000506036", "ENSEMBL:ENSP00000506036.1", "ENSEMBL:ENSP00000506184", "ENSEMBL:ENSP00000506184.1", "ENSEMBL:ENSP00000509662", "ENSEMBL:ENSP00000509662.1", "UMLS:C5441625"], "information_content": 90.9}
{"id": "NCBIGene:84888", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPPL2A", "equivalent_identifiers": ["NCBIGene:84888", "ENSEMBL:ENSG00000138600", "HGNC:30227", "OMIM:608238", "UMLS:C1842356", "UniProtKB:A0A8V8TLZ2", "ENSEMBL:ENSP00000513581", "ENSEMBL:ENSP00000513581.1", "UniProtKB:Q8TCT8", "PR:Q8TCT8", "ENSEMBL:ENSP00000261854", "ENSEMBL:ENSP00000261854.5"], "information_content": 92.8}
{"id": "MONDO:0013953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 28", "equivalent_identifiers": ["MONDO:0013953", "DOID:0111995", "OMIM:614889", "UMLS:C4013947", "NCIT:C176805", "medgen:862384"], "information_content": 100.0}
{"id": "NCBIGene:26035", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLCE", "equivalent_identifiers": ["NCBIGene:26035", "ENSEMBL:ENSG00000138604", "HGNC:17855", "OMIM:612134", "UMLS:C1825366", "UniProtKB:O94923", "PR:O94923", "ENSEMBL:ENSP00000261858", "ENSEMBL:ENSP00000261858.2", "UMLS:C4507263", "MESH:C000619560"], "information_content": 95.4}
{"id": "MONDO:0018555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism", "equivalent_identifiers": ["MONDO:0018555", "DOID:0090070", "OMIM.PS:147950", "orphanet:432", "UMLS:C0271623", "UMLS:C3489396", "MEDDRA:10021012", "MEDDRA:10059594", "NCIT:C113347", "NCIT:C120145", "SNOMEDCT:33927004", "medgen:82883", "HP:0000044"], "information_content": 70.5}
{"id": "UniProtKB:Q96JI7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spatacsin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JI7-1", "PR:Q96JI7-1", "ENSEMBL:ENSP00000261866", "ENSEMBL:ENSP00000261866.7"], "information_content": 100.0}
{"id": "MONDO:0009351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "homocarnosinosis", "equivalent_identifiers": ["MONDO:0009351", "DOID:0060177", "OMIM:236130", "UMLS:C0268632", "UMLS:C3495554", "MESH:C535328", "SNOMEDCT:61764000", "medgen:75703", "icd11.foundation:166229372"], "information_content": 95.4}
{"id": "NCBIGene:7782", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC30A4", "equivalent_identifiers": ["NCBIGene:7782", "ENSEMBL:ENSG00000104154", "HGNC:11015", "OMIM:602095", "UMLS:C1420181", "UniProtKB:O14863", "PR:O14863", "ENSEMBL:ENSP00000261867", "ENSEMBL:ENSP00000261867.3", "UMLS:C1454050", "MESH:C491597"], "information_content": 100.0}
{"id": "UniProtKB:O75822-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 3 subunit J isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75822-1", "PR:O75822-1", "ENSEMBL:ENSP00000261868", "ENSEMBL:ENSP00000261868.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8WW43-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-secretase subunit APH-1B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WW43-1", "PR:Q8WW43-1", "ENSEMBL:ENSP00000261879", "ENSEMBL:ENSP00000261879.5"], "information_content": 100.0}
{"id": "MONDO:0014435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 7", "equivalent_identifiers": ["MONDO:0014435", "DOID:0110129", "OMIM:615984", "EFO:0009026", "UMLS:C1859565", "MESH:C565916", "medgen:347180"], "information_content": 100.0}
{"id": "UniProtKB:Q6PD74-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha- and gamma-adaptin-binding protein p34 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PD74-1", "PR:Q6PD74-1", "ENSEMBL:ENSP00000261880", "ENSEMBL:ENSP00000261880.5"], "information_content": 100.0}
{"id": "MONDO:0013048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 50", "equivalent_identifiers": ["MONDO:0013048", "DOID:0110802", "OMIM:612936", "UMLS:C2752008", "MESH:C567858", "NCIT:C179863", "medgen:442869"], "information_content": 100.0}
{"id": "MONDO:0007046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary papulotranslucent acrokeratoderma", "equivalent_identifiers": ["MONDO:0007046", "DOID:0060360", "OMIM:101840", "EFO:1000708", "UMLS:C1863343", "MESH:C566323", "medgen:350144"], "information_content": 100.0}
{"id": "MONDO:0031421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Olmsted syndrome", "equivalent_identifiers": ["MONDO:0031421", "DOID:0112011", "OMIM.PS:614594", "orphanet:659", "UMLS:C0406761", "MEDDRA:10068842", "SNOMEDCT:239072003", "medgen:590661"], "information_content": 90.9}
{"id": "MONDO:0007417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Darier disease", "equivalent_identifiers": ["MONDO:0007417", "DOID:2734", "OMIM:124200", "orphanet:218", "UMLS:C0022595", "UMLS:C1852296", "UMLS:C1852297", "MESH:C565125", "MESH:C565126", "MESH:D007644", "MEDDRA:10011860", "MEDDRA:10023369", "NCIT:C84665", "SNOMEDCT:48611009", "medgen:5956", "icd11.foundation:643994486", "ICD10:E50.8"], "information_content": 100.0}
{"id": "NCBIGene:54962", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIPIN", "equivalent_identifiers": ["NCBIGene:54962", "ENSEMBL:ENSG00000075131", "HGNC:30750", "OMIM:610716", "UMLS:C1823281", "UniProtKB:B4DRF3", "UniProtKB:Q9BVW5", "PR:Q9BVW5", "ENSEMBL:ENSP00000261881", "ENSEMBL:ENSP00000261881.4"], "information_content": 95.4}
{"id": "NCBIGene:8483", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CILP", "equivalent_identifiers": ["NCBIGene:8483", "ENSEMBL:ENSG00000138615", "HGNC:1980", "OMIM:603489", "UMLS:C1413425", "UniProtKB:O75339", "PR:O75339", "ENSEMBL:ENSP00000261883", "ENSEMBL:ENSP00000261883.4", "UMLS:C1447688", "MESH:C114607"], "information_content": 87.2}
{"id": "NCBIGene:9325", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIP4", "equivalent_identifiers": ["NCBIGene:9325", "ENSEMBL:ENSG00000103671", "HGNC:12310", "OMIM:604501", "UMLS:C1421150", "UniProtKB:Q15650", "PR:Q15650", "ENSEMBL:ENSP00000261884", "ENSEMBL:ENSP00000261884.3", "UMLS:C1137639", "MESH:C459901"], "information_content": 90.9}
{"id": "UniProtKB:Q8N5Y8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein mono-ADP-ribosyltransferase PARP16 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5Y8-3", "PR:Q8N5Y8-3", "ENSEMBL:ENSP00000261888", "ENSEMBL:ENSP00000261888.6"], "information_content": 100.0}
{"id": "UniProtKB:Q13596-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q13596-3", "PR:Q13596-3", "ENSEMBL:ENSP00000261889", "ENSEMBL:ENSP00000261889.5"], "information_content": 100.0}
{"id": "UniProtKB:P62491-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-11A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62491-1", "PR:P62491-1", "ENSEMBL:ENSP00000261890", "ENSEMBL:ENSP00000261890.2"], "information_content": 100.0}
{"id": "UniProtKB:O60721-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/potassium/calcium exchanger 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60721-1", "PR:O60721-1", "ENSEMBL:ENSP00000261892", "ENSEMBL:ENSP00000261892.6"], "information_content": 100.0}
{"id": "UniProtKB:P83111-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine beta-lactamase-like protein LACTB, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P83111-1", "PR:P83111-1", "ENSEMBL:ENSP00000261893", "ENSEMBL:ENSP00000261893.4"], "information_content": 100.0}
{"id": "UniProtKB:O60563-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-T1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60563-1", "PR:O60563-1", "ENSEMBL:ENSP00000261900", "ENSEMBL:ENSP00000261900.3"], "information_content": 100.0}
{"id": "NCBIGene:10021", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HCN4", "equivalent_identifiers": ["NCBIGene:10021", "ENSEMBL:ENSG00000138622", "HGNC:16882", "OMIM:605206", "UMLS:C1424615", "UniProtKB:Q9Y3Q4", "PR:Q9Y3Q4", "ENSEMBL:ENSP00000261917", "ENSEMBL:ENSP00000261917.3", "UMLS:C1431897", "MESH:C119587"], "information_content": 90.9}
{"id": "UniProtKB:O75326-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "semaphorin-7A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75326-1", "PR:O75326-1", "ENSEMBL:ENSP00000261918", "ENSEMBL:ENSP00000261918.4", "ENSEMBL:ENSP00000500448", "ENSEMBL:ENSP00000500448.1"], "information_content": 100.0}
{"id": "MONDO:0013256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 15q24 deletion syndrome", "equivalent_identifiers": ["MONDO:0013256", "DOID:0060395", "OMIM:613406", "orphanet:94065", "UMLS:C3150674", "UMLS:C3150675", "UMLS:C3697269", "MESH:C579849", "SNOMEDCT:699308002", "medgen:462024"], "information_content": 100.0}
{"id": "NCBIGene:4016", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LOXL1", "equivalent_identifiers": ["NCBIGene:4016", "ENSEMBL:ENSG00000129038", "HGNC:6665", "OMIM:153456", "UMLS:C1416898", "UniProtKB:H3BUV8", "ENSEMBL:ENSP00000457827", "ENSEMBL:ENSP00000457827.1", "UniProtKB:Q08397", "PR:Q08397", "ENSEMBL:ENSP00000261921", "ENSEMBL:ENSP00000261921.7", "UMLS:C1310362", "MESH:C445313"], "information_content": 92.8}
{"id": "UniProtKB:P35916-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vascular endothelial growth factor receptor 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35916-2", "PR:P35916-2", "ENSEMBL:ENSP00000261937", "ENSEMBL:ENSP00000261937.6"], "information_content": 100.0}
{"id": "MONDO:0011331", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital chylothorax", "equivalent_identifiers": ["MONDO:0011331", "DOID:0060646", "OMIM:603523", "orphanet:264688", "UMLS:C0340014", "MESH:C535461", "MEDDRA:10078770", "NCIT:C98891", "SNOMEDCT:233646003", "medgen:87398", "icd11.foundation:641475779"], "information_content": 100.0}
{"id": "MONDO:0011914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis-lymphedema-telangiectasia syndrome", "equivalent_identifiers": ["MONDO:0011914", "DOID:0111361", "OMIM:607823", "UMLS:C1843004", "MESH:C564327", "medgen:375070"], "information_content": 100.0}
{"id": "NCBIGene:23197", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAF2", "equivalent_identifiers": ["NCBIGene:23197", "ENSEMBL:ENSG00000113194", "HGNC:24666", "OMIM:616935", "UMLS:C1823587", "UniProtKB:Q96CS3", "PR:Q96CS3", "ENSEMBL:ENSP00000261942", "ENSEMBL:ENSP00000261942.6", "UMLS:C1172464", "MESH:C468782"], "information_content": 90.9}
{"id": "MONDO:0002190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvar syringoma", "equivalent_identifiers": ["MONDO:0002190", "DOID:2064", "UMLS:C1520099", "NCIT:C40311", "medgen:311490"], "information_content": 100.0}
{"id": "UniProtKB:Q96CW5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-tubulin complex component 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CW5-1", "PR:Q96CW5-1", "ENSEMBL:ENSP00000261965", "ENSEMBL:ENSP00000261965.3"], "information_content": 100.0}
{"id": "UniProtKB:P49756-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 25 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49756-1", "PR:P49756-1", "ENSEMBL:ENSP00000261973", "ENSEMBL:ENSP00000261973.7", "ENSEMBL:ENSP00000431150", "ENSEMBL:ENSP00000431150.1"], "information_content": 100.0}
{"id": "NCBIGene:4053", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LTBP2", "equivalent_identifiers": ["NCBIGene:4053", "ENSEMBL:ENSG00000119681", "HGNC:6715", "OMIM:602091", "UMLS:C1334351", "UniProtKB:Q14767", "PR:Q14767", "ENSEMBL:ENSP00000261978", "ENSEMBL:ENSP00000261978.4", "UMLS:C0292186", "MESH:C509035"], "information_content": 76.0}
{"id": "MONDO:0011018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachyolmia-amelogenesis imperfecta syndrome", "equivalent_identifiers": ["MONDO:0011018", "DOID:0090143", "OMIM:601216", "orphanet:2899", "UMLS:C1832594", "MESH:C536538", "MEDDRA:10081838", "SNOMEDCT:716195006", "medgen:318659", "ICD10:Q76.3"], "information_content": 100.0}
{"id": "NCBIGene:338917", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VSX2", "equivalent_identifiers": ["NCBIGene:338917", "ENSEMBL:ENSG00000119614", "HGNC:1975", "OMIM:142993", "UMLS:C1413420", "UniProtKB:P58304", "PR:P58304", "ENSEMBL:ENSP00000261980", "ENSEMBL:ENSP00000261980.2", "UMLS:C1455114", "MESH:C490289"], "information_content": 95.4}
{"id": "NCBIGene:51156", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINA10", "equivalent_identifiers": ["NCBIGene:51156", "ENSEMBL:ENSG00000140093", "HGNC:15996", "OMIM:605271", "UMLS:C1423896", "UniProtKB:G3V2W1", "ENSEMBL:ENSP00000450896", "ENSEMBL:ENSP00000450896.1", "ENSEMBL:ENSP00000482029", "ENSEMBL:ENSP00000482029.2", "UMLS:C1447802", "MESH:C416370", "UniProtKB:Q9UK55", "PR:Q9UK55", "ENSEMBL:ENSP00000261994", "ENSEMBL:ENSP00000261994.4", "ENSEMBL:ENSP00000376809", "ENSEMBL:ENSP00000376809.1", "ENSEMBL:ENSP00000450971", "ENSEMBL:ENSP00000450971.1", "ENSEMBL:ENSP00000484632", "ENSEMBL:ENSP00000484632.1"], "information_content": 89.4}
{"id": "UniProtKB:O60271-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-Jun-amino-terminal kinase-interacting protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60271-1", "PR:O60271-1", "ENSEMBL:ENSP00000262013", "ENSEMBL:ENSP00000262013.7"], "information_content": 100.0}
{"id": "UniProtKB:Q16586-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-sarcoglycan isoform SGCA-1 (human)", "equivalent_identifiers": ["UniProtKB:Q16586-1", "PR:Q16586-1", "ENSEMBL:ENSP00000262018", "ENSEMBL:ENSP00000262018.3"], "information_content": 100.0}
{"id": "UniProtKB:P56192-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methionine--tRNA ligase, cytoplasmic isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P56192-1", "PR:P56192-1", "ENSEMBL:ENSP00000262027", "ENSEMBL:ENSP00000262027.5"], "information_content": 100.0}
{"id": "MONDO:0013788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 3B", "equivalent_identifiers": ["MONDO:0013788", "DOID:0110842", "OMIM:614504", "UMLS:C3281066", "medgen:482696"], "information_content": 100.0}
{"id": "NCBIGene:506", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP5F1B", "equivalent_identifiers": ["NCBIGene:506", "ENSEMBL:ENSG00000110955", "HGNC:830", "OMIM:102910", "UMLS:C1412653", "UniProtKB:P06576", "PR:P06576", "ENSEMBL:ENSP00000262030", "ENSEMBL:ENSP00000262030.3", "UMLS:C1669085", "MESH:C506526", "UniProtKB:V9HW31"], "information_content": 90.9}
{"id": "NCBIGene:5939", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBMS2", "equivalent_identifiers": ["NCBIGene:5939", "ENSEMBL:ENSG00000076067", "HGNC:9909", "OMIM:602387", "UMLS:C1419307", "UniProtKB:Q15434", "PR:Q15434", "ENSEMBL:ENSP00000262031", "ENSEMBL:ENSP00000262031.5", "UMLS:C0257445", "MESH:C088545"], "information_content": 100.0}
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{"id": "NCBIGene:4223", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MEOX2", "equivalent_identifiers": ["NCBIGene:4223", "ENSEMBL:ENSG00000106511", "HGNC:7014", "OMIM:600535", "UMLS:C1417112", "UniProtKB:P50222", "PR:P50222", "ENSEMBL:ENSP00000262041", "ENSEMBL:ENSP00000262041.5", "UMLS:C1435838", "MESH:C484193"], "information_content": 95.4}
{"id": "MONDO:0009611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria type 4", "equivalent_identifiers": ["MONDO:0009611", "DOID:0110006", "OMIM:250951", "orphanet:67048", "UMLS:C1855126", "MESH:C565393", "SNOMEDCT:297233004", "medgen:344425", "icd11.foundation:185382411"], "information_content": 100.0}
{"id": "UniProtKB:Q92576-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PHD finger protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92576-1", "PR:Q92576-1", "ENSEMBL:ENSP00000262043", "ENSEMBL:ENSP00000262043.4", "ENSEMBL:ENSP00000377048", "ENSEMBL:ENSP00000377048.1"], "information_content": 100.0}
{"id": "UniProtKB:P18846-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic AMP-dependent transcription factor ATF-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P18846-1", "PR:P18846-1", "ENSEMBL:ENSP00000262053", "ENSEMBL:ENSP00000262053.3"], "information_content": 100.0}
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{"id": "NCBIGene:27075", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPAN13", "equivalent_identifiers": ["NCBIGene:27075", "ENSEMBL:ENSG00000106537", "HGNC:21643", "OMIM:613139", "UMLS:C1540093", "UniProtKB:O95857", "PR:O95857", "ENSEMBL:ENSP00000262067", "ENSEMBL:ENSP00000262067.4", "UMLS:C1608603", "MESH:C502874", "UniProtKB:Q6FGK0"], "information_content": 92.8}
{"id": "NCBIGene:5874", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB27B", "equivalent_identifiers": ["NCBIGene:5874", "ENSEMBL:ENSG00000041353", "HGNC:9767", "OMIM:603869", "UMLS:C1419196", "UniProtKB:O00194", "PR:O00194", "ENSEMBL:ENSP00000262094", "ENSEMBL:ENSP00000262094.4"], "information_content": 89.4}
{"id": "NCBIGene:51201", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZDHHC2", "equivalent_identifiers": ["NCBIGene:51201", "ENSEMBL:ENSG00000104219", "HGNC:18469", "OMIM:618621", "UMLS:C1425534", "UniProtKB:A0A140VKD9", "UniProtKB:Q9UIJ5", "PR:Q9UIJ5", "ENSEMBL:ENSP00000262096", "ENSEMBL:ENSP00000262096.8", "UMLS:C2606415", "MESH:C532036"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULD2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-associated tumor suppressor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULD2-1", "PR:Q9ULD2-1", "ENSEMBL:ENSP00000262102", "ENSEMBL:ENSP00000262102.6", "ENSEMBL:ENSP00000509719", "ENSEMBL:ENSP00000509719.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAE3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calaxin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAE3-1", "PR:Q9HAE3-1", "ENSEMBL:ENSP00000262103", "ENSEMBL:ENSP00000262103.3"], "information_content": 100.0}
{"id": "MONDO:0019443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dextro-looped transposition of the great arteries", "equivalent_identifiers": ["MONDO:0019443", "DOID:0060770", "orphanet:860", "UMLS:C5671327", "medgen:1812310", "ICD10:Q20.3"], "information_content": 89.4}
{"id": "NCBIGene:4173", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MCM4", "equivalent_identifiers": ["NCBIGene:4173", "ENSEMBL:ENSG00000104738", "HGNC:6947", "OMIM:602638", "UMLS:C1334491", "UniProtKB:B3KMX0", "UniProtKB:B4DLA6", "UniProtKB:P33991", "PR:P33991", "ENSEMBL:ENSP00000262105", "ENSEMBL:ENSP00000262105.2", "ENSEMBL:ENSP00000496964", "ENSEMBL:ENSP00000496964.1", "UMLS:C0663296", "MESH:C099243"], "information_content": 84.8}
{"id": "MONDO:0014313", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity", "equivalent_identifiers": ["MONDO:0014313", "DOID:0111941", "OMIM:615707", "orphanet:437552", "UMLS:C3810342", "medgen:816672"], "information_content": 100.0}
{"id": "NCBIGene:9172", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYOM2", "equivalent_identifiers": ["NCBIGene:9172", "ENSEMBL:ENSG00000036448", "HGNC:7614", "OMIM:603509", "UMLS:C1417577", "UniProtKB:P54296", "PR:P54296", "ENSEMBL:ENSP00000262113", "ENSEMBL:ENSP00000262113.4", "ENSEMBL:ENSP00000478322", "ENSEMBL:ENSP00000478322.1", "UMLS:C3711766", "MESH:C577287"], "information_content": 92.8}
{"id": "MONDO:0021069", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant endocrine neoplasm", "equivalent_identifiers": ["MONDO:0021069", "DOID:170", "UMLS:C0153658", "MESH:D004701", "MEDDRA:10014708", "MEDDRA:10025546", "MEDDRA:10025897", "MEDDRA:10061122", "NCIT:C3575", "SNOMEDCT:371982006", "medgen:56319", "ICD10:C75.9", "ICD9:194.9"], "information_content": 58.2}
{"id": "UniProtKB:Q9GZX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "twisted gastrulation protein homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZX9-1", "PR:Q9GZX9-1", "ENSEMBL:ENSP00000262120", "ENSEMBL:ENSP00000262120.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6UB98-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UB98-1", "PR:Q6UB98-1", "ENSEMBL:ENSP00000262126", "ENSEMBL:ENSP00000262126.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAP6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 76 kDa isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAP6-1", "PR:Q8TAP6-1", "ENSEMBL:ENSP00000262127", "ENSEMBL:ENSP00000262127.2"], "information_content": 100.0}
{"id": "MONDO:0014466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neu-Laxova syndrome 2", "equivalent_identifiers": ["MONDO:0014466", "DOID:0080075", "OMIM:616038", "orphanet:583602", "UMLS:C4015019", "medgen:863456"], "information_content": 100.0}
{"id": "MONDO:0008458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 2", "equivalent_identifiers": ["MONDO:0008458", "DOID:0050955", "DOID:0060204", "OMIM:183090", "orphanet:98756", "UMLS:C0752121", "NCIT:C148315", "SNOMEDCT:715751004", "medgen:155704", "icd11.foundation:1232187870"], "information_content": 95.4}
{"id": "UniProtKB:Q08999-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinoblastoma-like protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q08999-1", "PR:Q08999-1", "ENSEMBL:ENSP00000262133", "ENSEMBL:ENSP00000262133.6"], "information_content": 90.9}
{"id": "UniProtKB:Q7L5N7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysophosphatidylcholine acyltransferase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L5N7-1", "PR:Q7L5N7-1", "ENSEMBL:ENSP00000262134", "ENSEMBL:ENSP00000262134.5"], "information_content": 100.0}
{"id": "NCBIGene:27092", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CACNG4", "equivalent_identifiers": ["NCBIGene:27092", "ENSEMBL:ENSG00000075461", "HGNC:1408", "OMIM:606404", "UMLS:C1413074", "UniProtKB:Q9UBN1", "PR:Q9UBN1", "ENSEMBL:ENSP00000262138", "ENSEMBL:ENSP00000262138.3", "UMLS:C1958464", "MESH:C521175"], "information_content": 95.4}
{"id": "UniProtKB:Q5MNZ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat domain phosphoinositide-interacting protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5MNZ9-1", "PR:Q5MNZ9-1", "ENSEMBL:ENSP00000262139", "ENSEMBL:ENSP00000262139.4"], "information_content": 100.0}
{"id": "MONDO:0016011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fetal alcohol syndrome", "equivalent_identifiers": ["MONDO:0016011", "DOID:0050665", "DOID:0050667", "orphanet:1915", "UMLS:C0015923", "MEDDRA:10016475", "MEDDRA:10016845", "NCIT:C84713", "SNOMEDCT:205788004", "medgen:8820", "icd11.foundation:362980699", "ICD10:Q86.0"], "information_content": 100.0}
{"id": "UniProtKB:Q6PJI9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GATOR2 complex protein WDR59 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PJI9-1", "PR:Q6PJI9-1", "ENSEMBL:ENSP00000262144", "ENSEMBL:ENSP00000262144.6"], "information_content": 100.0}
{"id": "UniProtKB:Q15390-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial fission regulator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15390-1", "PR:Q15390-1", "ENSEMBL:ENSP00000262146", "ENSEMBL:ENSP00000262146.4"], "information_content": 100.0}
{"id": "MONDO:0008133", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 3", "equivalent_identifiers": ["MONDO:0008133", "DOID:0111433", "OMIM:165300", "orphanet:67036", "UMLS:C1833809", "MESH:C537128", "SNOMEDCT:719517009", "medgen:371657"], "information_content": 100.0}
{"id": "UniProtKB:Q9H159-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H159-1", "PR:Q9H159-1", "ENSEMBL:ENSP00000262150", "ENSEMBL:ENSP00000262150.2"], "information_content": 100.0}
{"id": "UniProtKB:O15105-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mothers against decapentaplegic homolog 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15105-1", "PR:O15105-1", "ENSEMBL:ENSP00000262158", "ENSEMBL:ENSP00000262158.2"], "information_content": 92.8}
{"id": "UniProtKB:Q15796-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mothers against decapentaplegic homolog 2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q15796-1", "PR:Q15796-1", "ENSEMBL:ENSP00000262160", "ENSEMBL:ENSP00000262160.6", "ENSEMBL:ENSP00000384449", "ENSEMBL:ENSP00000384449.1"], "information_content": 83.6}
{"id": "MONDO:0001556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urethral obstruction", "equivalent_identifiers": ["MONDO:0001556", "DOID:12577", "UMLS:C0041972", "MESH:D014524", "MEDDRA:10046459", "NCIT:C79804", "SNOMEDCT:95588004", "medgen:12015", "HP:0000796"], "information_content": 84.2}
{"id": "UniProtKB:O75190-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily B member 6 isoform A (human)", "equivalent_identifiers": ["UniProtKB:O75190-1", "PR:O75190-1", "ENSEMBL:ENSP00000262177", "ENSEMBL:ENSP00000262177.4"], "information_content": 100.0}
{"id": "UniProtKB:P41587-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vasoactive intestinal polypeptide receptor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P41587-1", "PR:P41587-1", "ENSEMBL:ENSP00000262178", "ENSEMBL:ENSP00000262178.2"], "information_content": 100.0}
{"id": "MONDO:0000938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastric leiomyoma", "equivalent_identifiers": ["MONDO:0000938", "DOID:10087", "UMLS:C0238440", "MEDDRA:10081041", "NCIT:C3876", "SNOMEDCT:276812001", "medgen:116062"], "information_content": 100.0}
{"id": "UniProtKB:Q12809-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated inwardly rectifying potassium channel KCNH2 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q12809-1", "PR:Q12809-1", "ENSEMBL:ENSP00000262186", "ENSEMBL:ENSP00000262186.5"], "information_content": 89.4}
{"id": "NCBIGene:6009", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHEB", "equivalent_identifiers": ["NCBIGene:6009", "ENSEMBL:ENSG00000106615", "HGNC:10011", "OMIM:601293", "UMLS:C1419384", "UniProtKB:A0A090N900", "UniProtKB:Q15382", "PR:Q15382", "ENSEMBL:ENSP00000262187", "ENSEMBL:ENSP00000262187.5", "UMLS:C1455621", "MESH:C490211"], "information_content": 92.8}
{"id": "UniProtKB:Q6STE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6STE5-1", "PR:Q6STE5-1", "ENSEMBL:ENSP00000262188", "ENSEMBL:ENSP00000262188.8"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEZ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase 2C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEZ4-1", "PR:Q8NEZ4-1", "ENSEMBL:ENSP00000262189", "ENSEMBL:ENSP00000262189.6"], "information_content": 100.0}
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{"id": "NCBIGene:22850", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADNP2", "equivalent_identifiers": ["NCBIGene:22850", "ENSEMBL:ENSG00000101544", "HGNC:23803", "OMIM:617422", "UMLS:C1823983", "UniProtKB:Q6IQ32", "PR:Q6IQ32", "ENSEMBL:ENSP00000262198", "ENSEMBL:ENSP00000262198.3"], "information_content": 95.4}
{"id": "MONDO:0001521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intermittent explosive disorder", "equivalent_identifiers": ["MONDO:0001521", "DOID:12401", "UMLS:C0021776", "UMLS:C0152183", "MEDDRA:10015705", "MEDDRA:10022568", "NCIT:C94332", "SNOMEDCT:231527003", "SNOMEDCT:40987004", "medgen:7116", "icd11.foundation:295017661", "ICD10:F63.81", "ICD9:301.3", "ICD9:312.34"], "information_content": 100.0}
{"id": "NCBIGene:8989", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRPA1", "equivalent_identifiers": ["NCBIGene:8989", "ENSEMBL:ENSG00000104321", "HGNC:497", "OMIM:604775", "UMLS:C1412407", "UniProtKB:O75762", "PR:O75762", "ENSEMBL:ENSP00000262209", "ENSEMBL:ENSP00000262209.4", "UMLS:C1175914", "UMLS:C4724720", "MESH:C473350"], "information_content": 90.9}
{"id": "NCBIGene:79848", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSPP1", "equivalent_identifiers": ["NCBIGene:79848", "ENSEMBL:ENSG00000104218", "HGNC:26193", "OMIM:611654", "UMLS:C1824808", "UniProtKB:A0A6Q8PF96", "ENSEMBL:ENSP00000501676", "ENSEMBL:ENSP00000501676.1", "UniProtKB:A0A6Q8PGS3", "ENSEMBL:ENSP00000502421", "ENSEMBL:ENSP00000502421.1", "UniProtKB:A0A6Q8PHN8", "ENSEMBL:ENSP00000502747", "ENSEMBL:ENSP00000502747.1", "UniProtKB:A0A7I2PHE7", "ENSEMBL:ENSP00000262210", "ENSEMBL:ENSP00000262210.6", "UniProtKB:A0A7I2V3Z9", "ENSEMBL:ENSP00000503711", "ENSEMBL:ENSP00000503711.1", "UniProtKB:A0A7I2V4R5", "ENSEMBL:ENSP00000503878", "ENSEMBL:ENSP00000503878.1", "UniProtKB:A0A7I2V5J9", "ENSEMBL:ENSP00000504532", "ENSEMBL:ENSP00000504532.1", "UniProtKB:A0A7I2V5L8", "ENSEMBL:ENSP00000504342", "ENSEMBL:ENSP00000504342.1", "UniProtKB:A0A7I2V5N5", "ENSEMBL:ENSP00000504516", "ENSEMBL:ENSP00000504516.1", "UniProtKB:A0A7I2V5W3", "ENSEMBL:ENSP00000504733", "ENSEMBL:ENSP00000504733.1", "UniProtKB:A0A7I2YQH9", "ENSEMBL:ENSP00000503690", "ENSEMBL:ENSP00000503690.1", "UniProtKB:Q1MSJ5", "PR:Q1MSJ5", "UMLS:C1743670", "MESH:C514207", "UniProtKB:Q9H688"]}
{"id": "UniProtKB:Q15629-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "translocating chain-associated membrane protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15629-1", "PR:Q15629-1", "ENSEMBL:ENSP00000262213", "ENSEMBL:ENSP00000262213.2"], "information_content": 100.0}
{"id": "MONDO:0012391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant", "equivalent_identifiers": ["MONDO:0012391", "DOID:0110724", "OMIM:610003", "orphanet:1947", "orphanet:530298", "UMLS:C1864923", "medgen:355328"], "information_content": 100.0}
{"id": "NCBIGene:10565", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARFGEF1", "equivalent_identifiers": ["NCBIGene:10565", "ENSEMBL:ENSG00000066777", "HGNC:15772", "OMIM:604141", "UMLS:C1538920", "UniProtKB:Q9Y6D6", "PR:Q9Y6D6", "ENSEMBL:ENSP00000262215", "ENSEMBL:ENSP00000262215.3", "UMLS:C1431854", "MESH:C119087"], "information_content": 92.8}
{"id": "UniProtKB:P27216-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "annexin A13 isoform B (human)", "equivalent_identifiers": ["UniProtKB:P27216-2", "PR:P27216-2", "ENSEMBL:ENSP00000262219", "ENSEMBL:ENSP00000262219.6"], "information_content": 100.0}
{"id": "MONDO:0001212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-suppurative otitis media", "equivalent_identifiers": ["MONDO:0001212", "DOID:11180", "UMLS:C0271446", "MEDDRA:10029564", "SNOMEDCT:275481002", "medgen:543351", "ICD10:H65", "ICD9:381.4"], "information_content": 83.6}
{"id": "MONDO:0007874", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichorhinophalangeal syndrome type II", "equivalent_identifiers": ["MONDO:0007874", "DOID:4998", "OMIM:150230", "orphanet:502", "UMLS:C0023003", "MESH:D015826", "MEDDRA:10050638", "NCIT:C75118", "SNOMEDCT:41069008", "medgen:6009", "icd11.foundation:315453775"], "information_content": 92.8}
{"id": "NCBIGene:10959", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMED2", "equivalent_identifiers": ["NCBIGene:10959", "ENSEMBL:ENSG00000086598", "HGNC:16996", "OMIM:619642", "UMLS:C1823300", "UniProtKB:Q15363", "PR:Q15363", "ENSEMBL:ENSP00000262225", "ENSEMBL:ENSP00000262225.3", "UMLS:C2000152", "MESH:C524397", "UniProtKB:Q6FHT8"], "information_content": 89.4}
{"id": "NCBIGene:7528", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YY1", "equivalent_identifiers": ["NCBIGene:7528", "ENSEMBL:ENSG00000100811", "HGNC:12856", "OMIM:600013", "UMLS:C1421565", "UniProtKB:P25490", "PR:P25490", "ENSEMBL:ENSP00000262238", "ENSEMBL:ENSP00000262238.4", "UMLS:C1530713", "UMLS:C4082281", "MESH:C494698"], "information_content": 90.9}
{"id": "NCBIGene:23186", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RCOR1", "equivalent_identifiers": ["NCBIGene:23186", "ENSEMBL:ENSG00000089902", "HGNC:17441", "OMIM:607675", "UMLS:C1538820", "UniProtKB:Q9UKL0", "PR:Q9UKL0", "ENSEMBL:ENSP00000262241", "ENSEMBL:ENSP00000262241.5", "UMLS:C1438424", "MESH:C121019"], "information_content": 95.4}
{"id": "NCBIGene:79817", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MOB3B", "equivalent_identifiers": ["NCBIGene:79817", "ENSEMBL:ENSG00000120162", "HGNC:23825", "OMIM:617652", "UMLS:C1428282", "UniProtKB:Q86TA1", "PR:Q86TA1", "ENSEMBL:ENSP00000262244", "ENSEMBL:ENSP00000262244.5", "UMLS:C4277146", "MESH:C000607065"], "information_content": 92.8}
{"id": "UniProtKB:P20138-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myeloid cell surface antigen CD33 isoform hCD33M (human)", "equivalent_identifiers": ["UniProtKB:P20138-1", "PR:P20138-1", "ENSEMBL:ENSP00000262262", "ENSEMBL:ENSP00000262262.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWS0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PIH1 domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWS0-1", "PR:Q9NWS0-1", "ENSEMBL:ENSP00000262265", "ENSEMBL:ENSP00000262265.4", "ENSEMBL:ENSP00000470445", "ENSEMBL:ENSP00000470445.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HB40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinoid-inducible serine carboxypeptidase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HB40-1", "PR:Q9HB40-1", "ENSEMBL:ENSP00000262288", "ENSEMBL:ENSP00000262288.3"], "information_content": 100.0}
{"id": "MONDO:0011085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4D", "equivalent_identifiers": ["MONDO:0011085", "DOID:0110186", "OMIM:601455", "orphanet:99950", "UMLS:C1832334", "MESH:C535716", "SNOMEDCT:715798007", "medgen:371304", "icd11.foundation:616686295"], "information_content": 100.0}
{"id": "UniProtKB:P22079-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lactoperoxidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P22079-1", "PR:P22079-1", "ENSEMBL:ENSP00000262290", "ENSEMBL:ENSP00000262290.4"], "information_content": 100.0}
{"id": "MONDO:0006687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "burning mouth syndrome", "equivalent_identifiers": ["MONDO:0006687", "DOID:4331", "orphanet:353253", "EFO:1000850", "UMLS:C0006430", "MESH:D002054", "MEDDRA:10050820", "MEDDRA:10054520", "MEDDRA:10068065", "NCIT:C62545", "SNOMEDCT:399165002", "medgen:14254", "icd11.foundation:618998878"], "information_content": 95.4}
{"id": "UniProtKB:Q96GC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuole membrane protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GC9-1", "PR:Q96GC9-1", "ENSEMBL:ENSP00000262291", "ENSEMBL:ENSP00000262291.3", "ENSEMBL:ENSP00000465397", "ENSEMBL:ENSP00000465397.2", "ENSEMBL:ENSP00000466511", "ENSEMBL:ENSP00000466511.2"], "information_content": 100.0}
{"id": "NCBIGene:55771", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRR11", "equivalent_identifiers": ["NCBIGene:55771", "ENSEMBL:ENSG00000068489", "HGNC:25619", "OMIM:615920", "UMLS:C1826715", "UniProtKB:D2SNZ4", "UMLS:C2001770", "MESH:C524815", "UniProtKB:Q96HE9", "PR:Q96HE9", "ENSEMBL:ENSP00000262293", "ENSEMBL:ENSP00000262293.5", "ENSEMBL:ENSP00000463733", "ENSEMBL:ENSP00000463733.1", "ENSEMBL:ENSP00000464171", "ENSEMBL:ENSP00000464171.1", "ENSEMBL:ENSP00000481852", "ENSEMBL:ENSP00000481852.1"], "information_content": 90.9}
{"id": "UniProtKB:O94972-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM37 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94972-1", "PR:O94972-1", "ENSEMBL:ENSP00000262294", "ENSEMBL:ENSP00000262294.7", "ENSEMBL:ENSP00000376785", "ENSEMBL:ENSP00000376785.3"], "information_content": 100.0}
{"id": "UniProtKB:Q99640-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99640-1", "PR:Q99640-1", "ENSEMBL:ENSP00000262300", "ENSEMBL:ENSP00000262300.8"], "information_content": 100.0}
{"id": "UniProtKB:Q96S06-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lipase maturation factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96S06-1", "PR:Q96S06-1", "ENSEMBL:ENSP00000262301", "ENSEMBL:ENSP00000262301.12"], "information_content": 100.0}
{"id": "NCBIGene:10101", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUBP2", "equivalent_identifiers": ["NCBIGene:10101", "ENSEMBL:ENSG00000095906", "HGNC:8042", "OMIM:610779", "UMLS:C1417873", "UniProtKB:B7Z6P0", "ENSEMBL:ENSP00000460079", "ENSEMBL:ENSP00000460079.1", "UniProtKB:H3BQR2", "ENSEMBL:ENSP00000455896", "ENSEMBL:ENSP00000455896.1", "UniProtKB:Q9Y5Y2", "PR:Q9Y5Y2", "ENSEMBL:ENSP00000262302", "ENSEMBL:ENSP00000262302.9"], "information_content": 92.8}
{"id": "UniProtKB:P98161-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polycystin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P98161-1", "PR:P98161-1", "ENSEMBL:ENSP00000262304", "ENSEMBL:ENSP00000262304.4"], "information_content": 100.0}
{"id": "UniProtKB:O75154-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab11 family-interacting protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75154-1", "PR:O75154-1", "ENSEMBL:ENSP00000262305", "ENSEMBL:ENSP00000262305.4", "ENSEMBL:ENSP00000482156", "ENSEMBL:ENSP00000482156.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15370-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "elongin-B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15370-2", "PR:Q15370-2", "ENSEMBL:ENSP00000262306", "ENSEMBL:ENSP00000262306.7"], "information_content": 100.0}
{"id": "MONDO:0002369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystadenoma", "equivalent_identifiers": ["MONDO:0002369", "DOID:2634", "UMLS:C0010633", "MESH:D003537", "MEDDRA:10011812", "MEDDRA:10089160", "NCIT:C2972", "SNOMEDCT:47620003", "medgen:8221"], "information_content": 76.0}
{"id": "UniProtKB:Q8WVB6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromosome transmission fidelity protein 18 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVB6-1", "PR:Q8WVB6-1", "ENSEMBL:ENSP00000262315", "ENSEMBL:ENSP00000262315.9"], "information_content": 100.0}
{"id": "MONDO:0008972", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhizomelic chondrodysplasia punctata type 1", "equivalent_identifiers": ["MONDO:0008972", "DOID:0110851", "OMIM:215100", "orphanet:309789", "UMLS:C1859133", "MESH:C531651", "SNOMEDCT:1003862001", "medgen:347072", "icd11.foundation:44503513"], "information_content": 100.0}
{"id": "NCBIGene:64285", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHBDF1", "equivalent_identifiers": ["NCBIGene:64285", "ENSEMBL:ENSG00000007384", "HGNC:20561", "OMIM:614403", "UMLS:C1427003", "UniProtKB:Q96CC6", "PR:Q96CC6", "ENSEMBL:ENSP00000262316", "ENSEMBL:ENSP00000262316.5", "UMLS:C0527704", "MESH:C081962"], "information_content": 95.4}
{"id": "NCBIGene:9894", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TELO2", "equivalent_identifiers": ["NCBIGene:9894", "ENSEMBL:ENSG00000100726", "HGNC:29099", "OMIM:611140", "UMLS:C1823263", "UniProtKB:B4DXS2", "UMLS:C5564779", "MESH:C000720110", "UniProtKB:Q9Y4R8", "PR:Q9Y4R8", "ENSEMBL:ENSP00000262319", "ENSEMBL:ENSP00000262319.6"], "information_content": 86.3}
{"id": "UniProtKB:O15169-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Axin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15169-1", "PR:O15169-1", "ENSEMBL:ENSP00000262320", "ENSEMBL:ENSP00000262320.3"], "information_content": 100.0}
{"id": "NCBIGene:6121", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPE65", "equivalent_identifiers": ["NCBIGene:6121", "ENSEMBL:ENSG00000116745", "HGNC:10294", "OMIM:180069", "UMLS:C1419622", "UniProtKB:Q16518", "PR:Q16518", "ENSEMBL:ENSP00000262340", "ENSEMBL:ENSP00000262340.5", "UMLS:C1571375"], "information_content": 90.9}
{"id": "MONDO:0010152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichomegaly-retina pigmentary degeneration-dwarfism syndrome", "equivalent_identifiers": ["MONDO:0010152", "DOID:0111271", "OMIM:275400", "orphanet:3363", "UMLS:C1848745", "MESH:C536554", "MEDDRA:10073654", "SNOMEDCT:719944006", "medgen:338532"], "information_content": 100.0}
{"id": "UniProtKB:Q99665-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-12 receptor subunit beta-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99665-1", "PR:Q99665-1", "ENSEMBL:ENSP00000262345", "ENSEMBL:ENSP00000262345.1", "ENSEMBL:ENSP00000497959", "ENSEMBL:ENSP00000497959.1", "ENSEMBL:ENSP00000501329", "ENSEMBL:ENSP00000501329.1"], "information_content": 100.0}
{"id": "MONDO:0013955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency", "equivalent_identifiers": ["MONDO:0013955", "DOID:0111990", "OMIM:614891", "orphanet:319552", "UMLS:C4013949", "NCIT:C176800", "medgen:862386"], "information_content": 100.0}
{"id": "NCBIGene:6505", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC1A1", "equivalent_identifiers": ["NCBIGene:6505", "ENSEMBL:ENSG00000106688", "HGNC:10939", "OMIM:133550", "UMLS:C1420119", "UniProtKB:P43005", "PR:P43005", "ENSEMBL:ENSP00000262352", "ENSEMBL:ENSP00000262352.3", "UMLS:C1529086", "MESH:C493400"], "information_content": 92.8}
{"id": "MONDO:0000690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "body dysmorphic disorder", "equivalent_identifiers": ["MONDO:0000690", "DOID:0060163", "UMLS:C0005887", "MESH:D057215", "MEDDRA:10005892", "MEDDRA:10013193", "MEDDRA:10013484", "MEDDRA:10049096", "MEDDRA:10052793", "SNOMEDCT:83482000", "medgen:2302", "icd11.foundation:731724655"], "information_content": 100.0}
{"id": "NCBIGene:84662", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLIS2", "equivalent_identifiers": ["NCBIGene:84662", "ENSEMBL:ENSG00000126603", "HGNC:29450", "OMIM:608539", "UMLS:C1539573", "UniProtKB:B3KTH4", "UMLS:C1122742", "MESH:C447919", "UniProtKB:Q9BZE0", "PR:Q9BZE0", "ENSEMBL:ENSP00000262366", "ENSEMBL:ENSP00000262366.3", "ENSEMBL:ENSP00000395547", "ENSEMBL:ENSP00000395547.1", "ENSEMBL:ENSP00000484027", "ENSEMBL:ENSP00000484027.1", "ENSEMBL:ENSP00000488242", "ENSEMBL:ENSP00000488242.1", "UMLS:C3815567"], "information_content": 100.0}
{"id": "UniProtKB:Q92793-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CREB-binding protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92793-1", "PR:Q92793-1", "ENSEMBL:ENSP00000262367", "ENSEMBL:ENSP00000262367.5"], "information_content": 100.0}
{"id": "MONDO:0010561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Lowry syndrome", "equivalent_identifiers": ["MONDO:0010561", "DOID:3783", "OMIM:303600", "orphanet:192", "UMLS:C0265252", "UMLS:C0795900", "MESH:C536435", "MESH:D038921", "MEDDRA:10081806", "NCIT:C84643", "SNOMEDCT:15182000", "medgen:75556", "icd11.foundation:380089065"], "information_content": 100.0}
{"id": "UniProtKB:O60291-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase MGRN1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60291-2", "PR:O60291-2", "ENSEMBL:ENSP00000262370", "ENSEMBL:ENSP00000262370.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9BT22-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chitobiosyldiphosphodolichol beta-mannosyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BT22-1", "PR:Q9BT22-1", "ENSEMBL:ENSP00000262374", "ENSEMBL:ENSP00000262374.5"], "information_content": 100.0}
{"id": "MONDO:0010466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2", "equivalent_identifiers": ["MONDO:0010466", "DOID:0080139", "OMIM:300868", "orphanet:300496", "UMLS:C3275508", "medgen:477139"], "information_content": 100.0}
{"id": "UniProtKB:Q96EY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily A member 3, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EY1-1", "PR:Q96EY1-1", "ENSEMBL:ENSP00000262375", "ENSEMBL:ENSP00000262375.4", "ENSEMBL:ENSP00000477570", "ENSEMBL:ENSP00000477570.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NPG3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubinuclein-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPG3-1", "PR:Q9NPG3-1", "ENSEMBL:ENSP00000262376", "ENSEMBL:ENSP00000262376.5", "ENSEMBL:ENSP00000379894", "ENSEMBL:ENSP00000379894.3"], "information_content": 100.0}
{"id": "MONDO:0011399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha thalassemia spectrum", "equivalent_identifiers": ["MONDO:0011399", "DOID:1099", "OMIM:604131", "orphanet:846", "UMLS:C0002312", "MESH:D017085", "MEDDRA:10001802", "MEDDRA:10001817", "MEDDRA:10043390", "MEDDRA:10054659", "NCIT:C34368", "SNOMEDCT:68913001", "medgen:1434", "icd11.foundation:531667506", "ICD9:282.43"], "information_content": 86.3}
{"id": "NCBIGene:9683", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "N4BP1", "equivalent_identifiers": ["NCBIGene:9683", "ENSEMBL:ENSG00000102921", "HGNC:29850", "OMIM:619138", "UMLS:C2239766", "UniProtKB:O75113", "PR:O75113", "ENSEMBL:ENSP00000262384", "ENSEMBL:ENSP00000262384.3", "UMLS:C5391252", "MESH:C000656533"], "information_content": 89.4}
{"id": "UniProtKB:Q9Y6I7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat and SOCS box-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6I7-1", "PR:Q9Y6I7-1", "ENSEMBL:ENSP00000262394", "ENSEMBL:ENSP00000262394.2"], "information_content": 100.0}
{"id": "MONDO:0012418", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 62", "equivalent_identifiers": ["MONDO:0012418", "DOID:0110514", "OMIM:610143", "UMLS:C1857820", "MESH:C565719", "medgen:387916"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUZ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TNF receptor-associated factor 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUZ4-1", "PR:Q9BUZ4-1", "ENSEMBL:ENSP00000262395", "ENSEMBL:ENSP00000262395.5"], "information_content": 100.0}
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{"id": "MONDO:0001962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abnormality of glucagon secretion", "equivalent_identifiers": ["MONDO:0001962", "DOID:14427", "UMLS:C0154191", "MEDDRA:10000204", "MEDDRA:10018403", "MEDDRA:10061186", "SNOMEDCT:11178005", "medgen:509540", "ICD9:251.4"], "information_content": 100.0}
{"id": "MONDO:0014855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 42", "equivalent_identifiers": ["MONDO:0014855", "DOID:0070072", "OMIM:616973", "orphanet:488613", "UMLS:C4310774", "medgen:934741"], "information_content": 100.0}
{"id": "MONDO:0014074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease dominant intermediate F", "equivalent_identifiers": ["MONDO:0014074", "DOID:0110206", "OMIM:615185", "orphanet:352670", "UMLS:C4749463", "SNOMEDCT:770759001", "medgen:1666273"], "information_content": 100.0}
{"id": "UniProtKB:P08514-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin alpha-IIb isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08514-1", "PR:P08514-1", "ENSEMBL:ENSP00000262407", "ENSEMBL:ENSP00000262407.5"], "information_content": 100.0}
{"id": "MONDO:0014386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 18", "equivalent_identifiers": ["MONDO:0014386", "DOID:0111051", "OMIM:615888", "orphanet:420566", "UMLS:C4014584", "medgen:863021"], "information_content": 100.0}
{"id": "MONDO:0001297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac tamponade", "equivalent_identifiers": ["MONDO:0001297", "DOID:115", "EFO:1001285", "UMLS:C0007177", "MESH:D002305", "MEDDRA:10007610", "MEDDRA:10043113", "MEDDRA:10053565", "NCIT:C50481", "SNOMEDCT:35304003", "medgen:40108", "icd11.foundation:216782575", "ICD10:I31.4", "ICD9:423.3", "HP:0033415"], "information_content": 100.0}
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{"id": "UniProtKB:P02730-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "band 3 anion transport protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P02730-1", "PR:P02730-1", "ENSEMBL:ENSP00000262418", "ENSEMBL:ENSP00000262418.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0B8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine-rich secretory protein LCCL domain-containing 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0B8-1", "PR:Q9H0B8-1", "ENSEMBL:ENSP00000262424", "ENSEMBL:ENSP00000262424.5"], "information_content": 100.0}
{"id": "NCBIGene:2294", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXF1", "equivalent_identifiers": ["NCBIGene:2294", "ENSEMBL:ENSG00000103241", "HGNC:3809", "OMIM:601089", "UMLS:C1414677", "UniProtKB:Q12946", "PR:Q12946", "ENSEMBL:ENSP00000262426", "ENSEMBL:ENSP00000262426.4", "UMLS:C1430405", "MESH:C098521"], "information_content": 100.0}
{"id": "NCBIGene:23406", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COTL1", "equivalent_identifiers": ["NCBIGene:23406", "ENSEMBL:ENSG00000103187", "HGNC:18304", "OMIM:606748", "UMLS:C1425434", "UniProtKB:A0A384MTY2", "UMLS:C0765149", "MESH:C118115", "UniProtKB:Q14019", "PR:Q14019", "ENSEMBL:ENSP00000262428", "ENSEMBL:ENSP00000262428.4"], "information_content": 92.8}
{"id": "UniProtKB:O95822-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "malonyl-CoA decarboxylase, mitochondrial isoform Mitochondrial (human)", "equivalent_identifiers": ["UniProtKB:O95822-1", "PR:O95822-1", "ENSEMBL:ENSP00000262430", "ENSEMBL:ENSP00000262430.4"], "information_content": 100.0}
{"id": "MONDO:0009240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "formiminoglutamic aciduria", "equivalent_identifiers": ["MONDO:0009240", "DOID:0111679", "OMIM:229100", "orphanet:51208", "UMLS:C0268609", "MESH:C537425", "SNOMEDCT:59761008", "medgen:82823", "icd11.foundation:664824338"], "information_content": 100.0}
{"id": "NCBIGene:64750", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMURF2", "equivalent_identifiers": ["NCBIGene:64750", "ENSEMBL:ENSG00000108854", "HGNC:16809", "OMIM:605532", "UMLS:C1539797", "UniProtKB:Q96DE7", "UniProtKB:Q9HAU4", "PR:Q9HAU4", "ENSEMBL:ENSP00000262435", "ENSEMBL:ENSP00000262435.9", "UMLS:C0962942", "MESH:C471641"], "information_content": 95.4}
{"id": "NCBIGene:9340", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLP2R", "equivalent_identifiers": ["NCBIGene:9340", "ENSEMBL:ENSG00000065325", "HGNC:4325", "OMIM:603659", "UMLS:C1415106", "UniProtKB:A0A384MTS7", "UniProtKB:B2RAN4", "UniProtKB:O95838", "PR:O95838", "ENSEMBL:ENSP00000262441", "ENSEMBL:ENSP00000262441.5", "UMLS:C3657884", "MESH:C578749"], "information_content": 100.0}
{"id": "MONDO:0013006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated growth hormone deficiency type IB", "equivalent_identifiers": ["MONDO:0013006", "DOID:0060874", "OMIM:612781", "orphanet:231671", "UMLS:C2748571", "MESH:C567564", "medgen:411242"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal heavy chain 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYC9-1", "PR:Q9NYC9-1", "ENSEMBL:ENSP00000262442", "ENSEMBL:ENSP00000262442.3"], "information_content": 100.0}
{"id": "NCBIGene:26038", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHD5", "equivalent_identifiers": ["NCBIGene:26038", "ENSEMBL:ENSG00000116254", "HGNC:16816", "OMIM:610771", "UMLS:C1424568", "UniProtKB:Q8TDI0", "PR:Q8TDI0", "ENSEMBL:ENSP00000262450", "ENSEMBL:ENSP00000262450.3", "UMLS:C1174794", "MESH:C471926"], "information_content": 100.0}
{"id": "NCBIGene:23071", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERP44", "equivalent_identifiers": ["NCBIGene:23071", "ENSEMBL:ENSG00000023318", "HGNC:18311", "OMIM:609170", "UMLS:C1425439", "UniProtKB:A0A384MEE7", "UMLS:C1121715", "MESH:C451899", "UniProtKB:Q9BS26", "PR:Q9BS26", "ENSEMBL:ENSP00000262455", "ENSEMBL:ENSP00000262455.6"], "information_content": 81.7}
{"id": "UniProtKB:Q9Y283-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inversin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y283-1", "PR:Q9Y283-1", "ENSEMBL:ENSP00000262457", "ENSEMBL:ENSP00000262457.2"], "information_content": 100.0}
{"id": "NCBIGene:9837", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GINS1", "equivalent_identifiers": ["NCBIGene:9837", "ENSEMBL:ENSG00000101003", "HGNC:28980", "OMIM:610608", "UMLS:C1825347", "UniProtKB:A0A8Q3WLJ3", "ENSEMBL:ENSP00000512885", "ENSEMBL:ENSP00000512885.1", "UniProtKB:A0A8Q3WLK7", "ENSEMBL:ENSP00000512869", "ENSEMBL:ENSP00000512869.1", "UMLS:C2932272", "MESH:C547590", "UniProtKB:A0A8Q3WLL7", "ENSEMBL:ENSP00000512884", "ENSEMBL:ENSP00000512884.1", "UniProtKB:Q14691", "PR:Q14691", "ENSEMBL:ENSP00000262460", "ENSEMBL:ENSP00000262460.4", "ENSEMBL:ENSP00000512943", "ENSEMBL:ENSP00000512943.1"], "information_content": 90.9}
{"id": "MONDO:0044725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to GINS1 deficiency", "equivalent_identifiers": ["MONDO:0044725", "DOID:0111993", "OMIM:617827", "orphanet:505227", "UMLS:C5568132", "SNOMEDCT:1179286007", "medgen:1799555"], "information_content": 100.0}
{"id": "UniProtKB:P55011-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 12 member 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P55011-1", "PR:P55011-1", "ENSEMBL:ENSP00000262461", "ENSEMBL:ENSP00000262461.2"], "information_content": 100.0}
{"id": "NCBIGene:28965", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC27A6", "equivalent_identifiers": ["NCBIGene:28965", "ENSEMBL:ENSG00000113396", "HGNC:11000", "OMIM:604196", "UMLS:C1420168", "UniProtKB:B2R8P6", "UMLS:C1529419", "MESH:C493573", "UniProtKB:Q9Y2P4", "PR:Q9Y2P4", "ENSEMBL:ENSP00000262462", "ENSEMBL:ENSP00000262462.4", "ENSEMBL:ENSP00000378684", "ENSEMBL:ENSP00000378684.1", "ENSEMBL:ENSP00000421024", "ENSEMBL:ENSP00000421024.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZ71-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-associated phosphatidylinositol transfer protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZ71-1", "PR:Q9BZ71-1", "ENSEMBL:ENSP00000262483", "ENSEMBL:ENSP00000262483.8"], "information_content": 100.0}
{"id": "NCBIGene:140862", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ISM1", "equivalent_identifiers": ["NCBIGene:140862", "ENSEMBL:ENSG00000101230", "HGNC:16213", "OMIM:615793", "UMLS:C1424090", "UniProtKB:B1AKI9", "PR:B1AKI9", "ENSEMBL:ENSP00000262487", "ENSEMBL:ENSP00000262487.3", "UMLS:C4041973", "MESH:C000598687"], "information_content": 100.0}
{"id": "UniProtKB:P09471-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein G(o) subunit alpha isoform Alpha-2 (human)", "equivalent_identifiers": ["UniProtKB:P09471-2", "PR:P09471-2", "ENSEMBL:ENSP00000262494", "ENSEMBL:ENSP00000262494.7"], "information_content": 100.0}
{"id": "MONDO:0060491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with involuntary movements", "equivalent_identifiers": ["MONDO:0060491", "DOID:0112276", "OMIM:617493", "UMLS:C4479569", "medgen:1374697"], "information_content": 100.0}
{"id": "MONDO:0004901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lingual-facial-buccal dyskinesia", "equivalent_identifiers": ["MONDO:0004901", "DOID:9854", "UMLS:C0152115", "MEDDRA:10031094", "SNOMEDCT:49386006", "medgen:57747", "ICD10:G24.4", "ICD9:333.82", "HP:0002310"], "information_content": 100.0}
{"id": "MONDO:0009841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PEHO syndrome", "equivalent_identifiers": ["MONDO:0009841", "DOID:0080539", "OMIM:260565", "orphanet:2836", "UMLS:C1850055", "MESH:C536317", "MEDDRA:10086612", "SNOMEDCT:442511009", "medgen:342404", "icd11.foundation:976613527"], "information_content": 100.0}
{"id": "NCBIGene:29105", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP20", "equivalent_identifiers": ["NCBIGene:29105", "ENSEMBL:ENSG00000070761", "HGNC:29523", "OMIM:617906", "UMLS:C1824433", "UniProtKB:Q9Y6A4", "PR:Q9Y6A4", "ENSEMBL:ENSP00000262498", "ENSEMBL:ENSP00000262498.3"], "information_content": 95.4}
{"id": "NCBIGene:1459", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSNK2A2", "equivalent_identifiers": ["NCBIGene:1459", "ENSEMBL:ENSG00000070770", "HGNC:2459", "OMIM:115442", "UMLS:C1413761", "UniProtKB:P19784", "PR:P19784", "ENSEMBL:ENSP00000262506", "ENSEMBL:ENSP00000262506.3"], "information_content": 90.9}
{"id": "UniProtKB:O75208-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquinone biosynthesis protein COQ9, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75208-1", "PR:O75208-1", "ENSEMBL:ENSP00000262507", "ENSEMBL:ENSP00000262507.5"], "information_content": 100.0}
{"id": "UniProtKB:Q86WI3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein NLRC5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WI3-1", "PR:Q86WI3-1", "ENSEMBL:ENSP00000262510", "ENSEMBL:ENSP00000262510.6", "ENSEMBL:ENSP00000509992", "ENSEMBL:ENSP00000509992.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZRS2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "helicase SRCAP isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZRS2-1", "PR:Q6ZRS2-1", "ENSEMBL:ENSP00000262518", "ENSEMBL:ENSP00000262518.4", "ENSEMBL:ENSP00000405186", "ENSEMBL:ENSP00000405186.3", "ENSEMBL:ENSP00000516346", "ENSEMBL:ENSP00000516346.1"], "information_content": 100.0}
{"id": "MONDO:0007507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "BASAN syndrome", "equivalent_identifiers": ["MONDO:0007507", "DOID:0080725", "OMIM:129200", "orphanet:1658", "UMLS:C0406707", "MESH:C537659", "SNOMEDCT:239011004", "medgen:140808", "icd11.foundation:1298640608", "KEGG.DISEASE:H02296"], "information_content": 100.0}
{"id": "NCBIGene:9739", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SETD1A", "equivalent_identifiers": ["NCBIGene:9739", "ENSEMBL:ENSG00000099381", "HGNC:29010", "OMIM:611052", "UMLS:C1822684", "UniProtKB:O15047", "PR:O15047", "ENSEMBL:ENSP00000262519", "ENSEMBL:ENSP00000262519.8", "ENSEMBL:ENSP00000507683", "ENSEMBL:ENSP00000507683.1", "ENSEMBL:ENSP00000518195", "ENSEMBL:ENSP00000518195.1", "UMLS:C2003721", "MESH:C526068"], "information_content": 100.0}
{"id": "NCBIGene:23361", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF629", "equivalent_identifiers": ["NCBIGene:23361", "ENSEMBL:ENSG00000102870", "HGNC:29008", "OMIM:619587", "UMLS:C1538208", "UniProtKB:Q9UEG4", "PR:Q9UEG4", "ENSEMBL:ENSP00000262525", "ENSEMBL:ENSP00000262525.4"], "information_content": 100.0}
{"id": "UniProtKB:P16519-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuroendocrine convertase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P16519-1", "PR:P16519-1", "ENSEMBL:ENSP00000262545", "ENSEMBL:ENSP00000262545.2"], "information_content": 100.0}
{"id": "MONDO:0018582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mahvash Disease", "equivalent_identifiers": ["MONDO:0018582", "DOID:0112306", "OMIM:619290", "orphanet:438274", "UMLS:C4763635", "NCIT:C157461", "SNOMEDCT:1228875006", "medgen:1677024"], "information_content": 92.8}
{"id": "UniProtKB:Q9NVP4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "double zinc ribbon and ankyrin repeat-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVP4-1", "PR:Q9NVP4-1", "ENSEMBL:ENSP00000262547", "ENSEMBL:ENSP00000262547.5", "ENSEMBL:ENSP00000351734", "ENSEMBL:ENSP00000351734.6"], "information_content": 100.0}
{"id": "MONDO:0014427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 20", "equivalent_identifiers": ["MONDO:0014427", "DOID:0111026", "OMIM:615973", "UMLS:C4014856", "medgen:863293"], "information_content": 100.0}
{"id": "MONDO:0020369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Chandler syndrome", "equivalent_identifiers": ["MONDO:0020369", "DOID:11554", "orphanet:98979", "UMLS:C0544008", "MEDDRA:10057487", "SNOMEDCT:392481002", "medgen:107777", "icd11.foundation:806443940"], "information_content": 100.0}
{"id": "MONDO:0014374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 18", "equivalent_identifiers": ["MONDO:0014374", "DOID:0111125", "OMIM:615862", "UMLS:C3890591", "medgen:855697"], "information_content": 100.0}
{"id": "MONDO:0018190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant childhood-onset proximal spinal muscular atrophy", "equivalent_identifiers": ["MONDO:0018190", "DOID:0070348", "OMIM.PS:158600", "orphanet:363447", "UMLS:C1834690", "SNOMEDCT:772129007", "medgen:322470"], "information_content": 90.9}
{"id": "MONDO:0013263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 54", "equivalent_identifiers": ["MONDO:0013263", "DOID:0110364", "OMIM:613428", "UMLS:C3150691", "UMLS:C5829987", "medgen:462041"], "information_content": 100.0}
{"id": "MONDO:0007362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 2", "equivalent_identifiers": ["MONDO:0007362", "DOID:0111005", "OMIM:120970", "UMLS:C0339530", "UMLS:C3489532", "NCIT:C162399", "SNOMEDCT:80328002", "medgen:483485"], "information_content": 100.0}
{"id": "UniProtKB:O15269-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine palmitoyltransferase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15269-1", "PR:O15269-1", "ENSEMBL:ENSP00000262554", "ENSEMBL:ENSP00000262554.2"], "information_content": 100.0}
{"id": "NCBIGene:6132", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL8", "equivalent_identifiers": ["NCBIGene:6132", "ENSEMBL:ENSG00000161016", "HGNC:10368", "OMIM:604177", "UMLS:C1335640", "UniProtKB:P62917", "PR:P62917", "ENSEMBL:ENSP00000262584", "ENSEMBL:ENSP00000262584.3", "ENSEMBL:ENSP00000378378", "ENSEMBL:ENSP00000378378.2", "ENSEMBL:ENSP00000433464", "ENSEMBL:ENSP00000433464.2", "UMLS:C4276640", "MESH:C000609035"], "information_content": 88.2}
{"id": "UniProtKB:Q9P104-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "docking protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P104-1", "PR:Q9P104-1", "ENSEMBL:ENSP00000262593", "ENSEMBL:ENSP00000262593.5"], "information_content": 100.0}
{"id": "UniProtKB:O14745-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14745-1", "PR:O14745-1", "ENSEMBL:ENSP00000262613", "ENSEMBL:ENSP00000262613.5"], "information_content": 100.0}
{"id": "NCBIGene:64377", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHST8", "equivalent_identifiers": ["NCBIGene:64377", "ENSEMBL:ENSG00000124302", "HGNC:15993", "OMIM:610190", "UMLS:C1423894", "UniProtKB:Q9H2A9", "PR:Q9H2A9", "ENSEMBL:ENSP00000262622", "ENSEMBL:ENSP00000262622.3", "ENSEMBL:ENSP00000392604", "ENSEMBL:ENSP00000392604.1", "ENSEMBL:ENSP00000393879", "ENSEMBL:ENSP00000393879.1", "ENSEMBL:ENSP00000499084", "ENSEMBL:ENSP00000499084.1"], "information_content": 100.0}
{"id": "MONDO:0009020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular corneal dystrophy", "equivalent_identifiers": ["MONDO:0009020", "DOID:2565", "OMIM:217800", "orphanet:98969", "UMLS:C0024439", "UMLS:C1636149", "UMLS:C1691013", "MESH:C537834", "MESH:C563270", "MEDDRA:10025406", "NCIT:C34793", "SNOMEDCT:418054005", "SNOMEDCT:418435001", "SNOMEDCT:60258001", "medgen:351514", "icd11.foundation:791344343", "ICD10:H18.55", "ICD9:371.55"], "information_content": 95.4}
{"id": "NCBIGene:495", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP4A", "equivalent_identifiers": ["NCBIGene:495", "ENSEMBL:ENSG00000105675", "HGNC:819", "OMIM:137216", "UMLS:C1412645", "UniProtKB:A0A384MR29", "UMLS:C3883746", "MESH:C000591756", "UniProtKB:P20648", "PR:P20648", "ENSEMBL:ENSP00000262623", "ENSEMBL:ENSP00000262623.2"], "information_content": 95.4}
{"id": "NCBIGene:3249", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HPN", "equivalent_identifiers": ["NCBIGene:3249", "ENSEMBL:ENSG00000105707", "HGNC:5155", "OMIM:142440", "UMLS:C1415700", "UniProtKB:A0A140VJK9", "UniProtKB:B7Z1L4", "UniProtKB:P05981", "PR:P05981", "ENSEMBL:ENSP00000262626", "ENSEMBL:ENSP00000262626.2", "ENSEMBL:ENSP00000376060", "ENSEMBL:ENSP00000376060.1", "ENSEMBL:ENSP00000500664", "ENSEMBL:ENSP00000500664.1", "ENSEMBL:ENSP00000500909", "ENSEMBL:ENSP00000500909.1", "UMLS:C4705796", "MESH:C000627274"], "information_content": 100.0}
{"id": "UniProtKB:O43914-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TYRO protein tyrosine kinase-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43914-1", "PR:O43914-1", "ENSEMBL:ENSP00000262629", "ENSEMBL:ENSP00000262629.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BTD8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 42 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTD8-1", "PR:Q9BTD8-1", "ENSEMBL:ENSP00000262633", "ENSEMBL:ENSP00000262633.3"], "information_content": 100.0}
{"id": "MONDO:0054701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kleefstra syndrome 2", "equivalent_identifiers": ["MONDO:0054701", "DOID:0080598", "OMIM:617768", "UMLS:C4540395", "medgen:1623903"], "information_content": 100.0}
{"id": "UniProtKB:P51809-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vesicle-associated membrane protein 7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51809-2", "PR:P51809-2", "ENSEMBL:ENSP00000262640", "ENSEMBL:ENSP00000262640.6", "ENSEMBL:ENSP00000518620", "ENSEMBL:ENSP00000518620.1"], "information_content": 100.0}
{"id": "UniProtKB:P24864-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G1/S-specific cyclin-E1 isoform E1L (human)", "equivalent_identifiers": ["UniProtKB:P24864-1", "PR:P24864-1", "ENSEMBL:ENSP00000262643", "ENSEMBL:ENSP00000262643.3"], "information_content": 100.0}
{"id": "NCBIGene:54928", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BPNT2", "equivalent_identifiers": ["NCBIGene:54928", "ENSEMBL:ENSG00000104331", "HGNC:26019", "OMIM:614010", "UMLS:C1825599", "UniProtKB:Q9NX62", "PR:Q9NX62", "ENSEMBL:ENSP00000262644", "ENSEMBL:ENSP00000262644.4"], "information_content": 90.9}
{"id": "MONDO:0008387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ring dermoid of cornea", "equivalent_identifiers": ["MONDO:0008387", "DOID:0111548", "OMIM:180550", "orphanet:91481", "UMLS:C1867155", "MESH:C535684", "SNOMEDCT:723499000", "medgen:357922", "icd11.foundation:271430543"], "information_content": 100.0}
{"id": "UniProtKB:P61019-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-2A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61019-1", "PR:P61019-1", "ENSEMBL:ENSP00000262646", "ENSEMBL:ENSP00000262646.7"], "information_content": 100.0}
{"id": "NCBIGene:3730", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANOS1", "equivalent_identifiers": ["NCBIGene:3730", "ENSEMBL:ENSG00000011201", "HGNC:6211", "OMIM:300836", "UMLS:C1416536", "UniProtKB:P23352", "PR:P23352", "ENSEMBL:ENSP00000262648", "ENSEMBL:ENSP00000262648.3", "UMLS:C1257005", "UMLS:C2700447", "MESH:C076266"], "information_content": 95.4}
{"id": "MONDO:0019637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal hypoplasia", "equivalent_identifiers": ["MONDO:0019637", "DOID:0080204", "orphanet:93101", "UMLS:C0266295", "MEDDRA:10049102", "SNOMEDCT:32659003", "medgen:120571", "HP:0000089"], "information_content": 90.9}
{"id": "UniProtKB:O43439-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein CBFA2T2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43439-1", "PR:O43439-1", "ENSEMBL:ENSP00000262653", "ENSEMBL:ENSP00000262653.7", "ENSEMBL:ENSP00000364428", "ENSEMBL:ENSP00000364428.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUG4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cerebral cavernous malformations 2 protein-like isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUG4-2", "PR:Q9NUG4-2", "ENSEMBL:ENSP00000262659", "ENSEMBL:ENSP00000262659.8"], "information_content": 100.0}
{"id": "MONDO:0002404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver hemangioma", "equivalent_identifiers": ["MONDO:0002404", "DOID:271", "UMLS:C0238246", "MEDDRA:10018821", "MEDDRA:10019396", "NCIT:C3869", "SNOMEDCT:93469006", "medgen:66765", "HP:0031207"], "information_content": 90.9}
{"id": "NCBIGene:1031", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDKN2C", "equivalent_identifiers": ["NCBIGene:1031", "ENSEMBL:ENSG00000123080", "HGNC:1789", "OMIM:603369", "UMLS:C1332738", "UniProtKB:P42773", "PR:P42773", "ENSEMBL:ENSP00000262662", "ENSEMBL:ENSP00000262662.1", "ENSEMBL:ENSP00000360826", "ENSEMBL:ENSP00000360826.3", "ENSEMBL:ENSP00000379452", "ENSEMBL:ENSP00000379452.1", "UMLS:C1529959", "MESH:C493971", "UniProtKB:Q6ICV4"], "information_content": 95.4}
{"id": "MONDO:0003054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign meningioma", "equivalent_identifiers": ["MONDO:0003054", "DOID:4587", "UMLS:C0281784", "MEDDRA:10004290", "MEDDRA:10027192", "MEDDRA:10027195", "NCIT:C4055", "SNOMEDCT:1157019008", "SNOMEDCT:724171006", "medgen:129095"], "information_content": 92.8}
{"id": "UniProtKB:Q9UKV3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptotic chromatin condensation inducer in the nucleus isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKV3-1", "PR:Q9UKV3-1", "ENSEMBL:ENSP00000262710", "ENSEMBL:ENSP00000262710.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96IF1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM domain-containing protein ajuba isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96IF1-1", "PR:Q96IF1-1", "ENSEMBL:ENSP00000262713", "ENSEMBL:ENSP00000262713.2"], "information_content": 100.0}
{"id": "UniProtKB:Q99973-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "telomerase protein component 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99973-1", "PR:Q99973-1", "ENSEMBL:ENSP00000262715", "ENSEMBL:ENSP00000262715.5", "ENSEMBL:ENSP00000517324", "ENSEMBL:ENSP00000517324.1"], "information_content": 100.0}
{"id": "MONDO:0005688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "campylobacteriosis", "equivalent_identifiers": ["MONDO:0005688", "DOID:13622", "EFO:0007190", "UMLS:C0006818", "MESH:D002169", "MEDDRA:10051226", "MEDDRA:10053136", "SNOMEDCT:86500004", "medgen:14296", "icd11.foundation:1012026026"], "information_content": 95.4}
{"id": "NCBIGene:28316", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDH20", "equivalent_identifiers": ["NCBIGene:28316", "ENSEMBL:ENSG00000101542", "HGNC:1760", "OMIM:605807", "UMLS:C1413278", "UniProtKB:A8K2C5", "UMLS:C1571529", "MESH:C415581", "UniProtKB:Q8N9J3", "UniProtKB:Q9HBT6", "PR:Q9HBT6", "ENSEMBL:ENSP00000262717", "ENSEMBL:ENSP00000262717.3", "ENSEMBL:ENSP00000442226", "ENSEMBL:ENSP00000442226.1", "ENSEMBL:ENSP00000444767", "ENSEMBL:ENSP00000444767.1", "UMLS:C4724724"], "information_content": 95.4}
{"id": "UniProtKB:O60346-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PH domain leucine-rich repeat-containing protein phosphatase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60346-1", "PR:O60346-1", "ENSEMBL:ENSP00000262719", "ENSEMBL:ENSP00000262719.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5THR3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EF-hand calcium-binding domain-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5THR3-1", "PR:Q5THR3-1", "ENSEMBL:ENSP00000262726", "ENSEMBL:ENSP00000262726.7"], "information_content": 100.0}
{"id": "MONDO:0021023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complete androgen insensitivity syndrome", "equivalent_identifiers": ["MONDO:0021023", "DOID:0080775", "orphanet:99429", "UMLS:C0936016", "MEDDRA:10043319", "MEDDRA:10054657", "NCIT:C120191", "SNOMEDCT:368851000119102", "medgen:183188", "ICD10:E34.51"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYQ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin EGF LAG seven-pass G-type receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYQ6-1", "PR:Q9NYQ6-1", "ENSEMBL:ENSP00000262738", "ENSEMBL:ENSP00000262738.3"], "information_content": 100.0}
{"id": "MONDO:0019772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meige syndrome", "equivalent_identifiers": ["MONDO:0019772", "DOID:3982", "orphanet:93964", "UMLS:C0025183", "MESH:D008538", "MEDDRA:10027138", "SNOMEDCT:230325003", "medgen:44341"], "information_content": 100.0}
{"id": "UniProtKB:Q92569-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 3-kinase regulatory subunit gamma isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92569-1", "PR:Q92569-1", "ENSEMBL:ENSP00000262741", "ENSEMBL:ENSP00000262741.5", "ENSEMBL:ENSP00000361075", "ENSEMBL:ENSP00000361075.1", "ENSEMBL:ENSP00000412546", "ENSEMBL:ENSP00000412546.1"], "information_content": 100.0}
{"id": "NCBIGene:5052", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRDX1", "equivalent_identifiers": ["NCBIGene:5052", "ENSEMBL:ENSG00000117450", "HGNC:9352", "OMIM:176763", "UMLS:C1418879", "UniProtKB:A0A384NPQ2", "UMLS:C1430024", "MESH:C515940", "UniProtKB:Q06830", "PR:Q06830", "ENSEMBL:ENSP00000262746", "ENSEMBL:ENSP00000262746.1", "ENSEMBL:ENSP00000361152", "ENSEMBL:ENSP00000361152.5", "ENSEMBL:ENSP00000389047", "ENSEMBL:ENSP00000389047.2", "ENSEMBL:ENSP00000407034", "ENSEMBL:ENSP00000407034.2", "ENSEMBL:ENSP00000503140", "ENSEMBL:ENSP00000503140.1"], "information_content": 85.5}
{"id": "UniProtKB:Q9UK32-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal protein S6 kinase alpha-6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UK32-1", "PR:Q9UK32-1", "ENSEMBL:ENSP00000262752", "ENSEMBL:ENSP00000262752.2"], "information_content": 100.0}
{"id": "UniProtKB:Q32NB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q32NB8-1", "PR:Q32NB8-1", "ENSEMBL:ENSP00000262764", "ENSEMBL:ENSP00000262764.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0J4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamine-rich protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0J4-1", "PR:Q9H0J4-1", "ENSEMBL:ENSP00000262765", "ENSEMBL:ENSP00000262765.5"], "information_content": 100.0}
{"id": "NCBIGene:7077", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMP2", "equivalent_identifiers": ["NCBIGene:7077", "ENSEMBL:ENSG00000035862", "HGNC:11821", "OMIM:188825", "UMLS:C1336629", "UniProtKB:A0A140VK57", "UniProtKB:P16035", "PR:P16035", "ENSEMBL:ENSP00000262768", "ENSEMBL:ENSP00000262768.6", "UMLS:C3178655", "MESH:C560823"], "information_content": 92.8}
{"id": "NCBIGene:3959", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LGALS3BP", "equivalent_identifiers": ["NCBIGene:3959", "ENSEMBL:ENSG00000108679", "HGNC:6564", "OMIM:600626", "UMLS:C1334335", "UniProtKB:Q08380", "PR:Q08380", "ENSEMBL:ENSP00000262776", "ENSEMBL:ENSP00000262776.2", "UMLS:C0217525", "MESH:C081856"], "information_content": 79.9}
{"id": "UniProtKB:Q9BXT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA helicase Mov10l1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXT6-1", "PR:Q9BXT6-1", "ENSEMBL:ENSP00000262794", "ENSEMBL:ENSP00000262794.5"], "information_content": 100.0}
{"id": "NCBIGene:8178", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELL", "equivalent_identifiers": ["NCBIGene:8178", "ENSEMBL:ENSG00000105656", "HGNC:23114", "OMIM:600284", "UMLS:C1427925", "UniProtKB:P55199", "PR:P55199", "ENSEMBL:ENSP00000262809", "ENSEMBL:ENSP00000262809.3", "UMLS:C1430098", "UMLS:C3273466", "MESH:C090862", "UniProtKB:U3KQ90", "ENSEMBL:ENSP00000475648", "ENSEMBL:ENSP00000475648.2"], "information_content": 89.4}
{"id": "MONDO:0006861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myeloid sarcoma", "equivalent_identifiers": ["MONDO:0006861", "DOID:8683", "orphanet:86850", "EFO:1001052", "UMLS:C4721505", "MESH:D023981", "MEDDRA:10008583", "MEDDRA:10028562", "NCIT:C3520", "SNOMEDCT:188737002", "SNOMEDCT:94719007", "medgen:1656669", "icd11.foundation:1988933820", "icd11.foundation:921720320", "ICD10:C92.3"], "information_content": 81.7}
{"id": "UniProtKB:Q9Y6X3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAU2 chromatid cohesion factor homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6X3-1", "PR:Q9Y6X3-1", "ENSEMBL:ENSP00000262815", "ENSEMBL:ENSP00000262815.9"], "information_content": 100.0}
{"id": "MONDO:0005096", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0005096", "DOID:1749", "EFO:0000707", "UMLS:C0007137", "UMLS:C0751688", "MESH:D002294", "MEDDRA:10007349", "MEDDRA:10007473", "MEDDRA:10014987", "MEDDRA:10041823", "MEDDRA:10087462", "NCIT:C2929", "SNOMEDCT:1162767002", "SNOMEDCT:1255006006", "SNOMEDCT:28899001", "SNOMEDCT:402815007", "medgen:2874", "HP:0002860"], "information_content": 57.1}
{"id": "MONDO:0002358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngeal carcinoma", "equivalent_identifiers": ["MONDO:0002358", "DOID:2600", "UMLS:C0595989", "MEDDRA:10007410", "MEDDRA:10007427", "MEDDRA:10023906", "NCIT:C4855", "SNOMEDCT:276975007", "medgen:108889", "HP:0012118"], "information_content": 69.7}
{"id": "NCBIGene:7224", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRPC5", "equivalent_identifiers": ["NCBIGene:7224", "ENSEMBL:ENSG00000072315", "HGNC:12337", "OMIM:300334", "UMLS:C1421172", "UniProtKB:Q9UL62", "PR:Q9UL62", "ENSEMBL:ENSP00000262839", "ENSEMBL:ENSP00000262839.2", "UMLS:C1453437", "MESH:C491780"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJV3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable E3 ubiquitin-protein ligase MID2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJV3-1", "PR:Q9UJV3-1", "ENSEMBL:ENSP00000262843", "ENSEMBL:ENSP00000262843.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4X0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear protein AMMECR1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4X0-1", "PR:Q9Y4X0-1", "ENSEMBL:ENSP00000262844", "ENSEMBL:ENSP00000262844.5"], "information_content": 100.0}
{"id": "MONDO:0008094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Port-Wine Stain", "equivalent_identifiers": ["MONDO:0008094", "DOID:0111529", "OMIM:163000", "orphanet:624", "UMLS:C0235752", "UMLS:C2931029", "MESH:C535816", "MESH:D019339", "MEDDRA:10036196", "MEDDRA:10036197", "MEDDRA:10062800", "MEDDRA:10067193", "MEDDRA:10067195", "MEDDRA:10067196", "MEDDRA:10083301", "MEDDRA:10083544", "NCIT:C3840", "SNOMEDCT:416377005", "SNOMEDCT:763714006", "medgen:419699", "HP:0001052"], "information_content": 90.9}
{"id": "NCBIGene:5613", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRKX", "equivalent_identifiers": ["NCBIGene:5613", "ENSEMBL:ENSG00000183943", "HGNC:9441", "OMIM:300083", "UMLS:C1418934", "UniProtKB:P51817", "PR:P51817", "ENSEMBL:ENSP00000262848", "ENSEMBL:ENSP00000262848.5", "UMLS:C1431084", "MESH:C109450"], "information_content": 95.4}
{"id": "UniProtKB:Q5VZM2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related GTP-binding protein B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VZM2-1", "PR:Q5VZM2-1", "ENSEMBL:ENSP00000262850", "ENSEMBL:ENSP00000262850.7"], "information_content": 100.0}
{"id": "NCBIGene:671", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BPI", "equivalent_identifiers": ["NCBIGene:671", "ENSEMBL:ENSG00000101425", "HGNC:1095", "OMIM:109195", "UMLS:C1443145", "UniProtKB:A0A2R8YDF1", "ENSEMBL:ENSP00000494528", "ENSEMBL:ENSP00000494528.2", "ENSEMBL:ENSP00000520600", "ENSEMBL:ENSP00000520600.1", "UniProtKB:P17213", "PR:P17213", "ENSEMBL:ENSP00000262865", "ENSEMBL:ENSP00000262865.5", "UMLS:C1453589"], "information_content": 95.4}
{"id": "UniProtKB:Q9H6Q3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Src-like-adapter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6Q3-1", "PR:Q9H6Q3-1", "ENSEMBL:ENSP00000262866", "ENSEMBL:ENSP00000262866.4"], "information_content": 100.0}
{"id": "MONDO:0005460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "swine influenza", "equivalent_identifiers": ["MONDO:0005460", "DOID:0050211", "EFO:0005226", "UMLS:C0276357", "UMLS:C2076600", "MEDDRA:10069500", "MEDDRA:10069767", "NCIT:C80444", "SNOMEDCT:442696006", "medgen:1385137"], "information_content": 100.0}
{"id": "MONDO:0001867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phaeohyphomycosis", "equivalent_identifiers": ["MONDO:0001867", "DOID:14049", "UMLS:C0276721", "MESH:D060446", "MEDDRA:10021807", "MEDDRA:10034799", "MEDDRA:10080481", "MEDDRA:10080815", "SNOMEDCT:47158003", "medgen:452374", "icd11.foundation:547567937", "HP:6000031"], "information_content": 100.0}
{"id": "NCBIGene:7515", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XRCC1", "equivalent_identifiers": ["NCBIGene:7515", "ENSEMBL:ENSG00000073050", "HGNC:12828", "OMIM:194360", "UMLS:C1366475", "UniProtKB:B2RCY5", "UniProtKB:P18887", "PR:P18887", "ENSEMBL:ENSP00000262887", "ENSEMBL:ENSP00000262887.5", "UMLS:C0250029", "MESH:C000619371", "UniProtKB:Q59HH7"], "information_content": 95.4}
{"id": "MONDO:0011686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LIG4 Syndrome", "equivalent_identifiers": ["MONDO:0011686", "DOID:0060021", "OMIM:606593", "orphanet:99812", "UMLS:C1847827", "MESH:C564694", "NCIT:C122657", "SNOMEDCT:724177005", "medgen:339855"], "information_content": 100.0}
{"id": "UniProtKB:Q96L34-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAP/microtubule affinity-regulating kinase 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96L34-1", "PR:Q96L34-1", "ENSEMBL:ENSP00000262891", "ENSEMBL:ENSP00000262891.3"], "information_content": 100.0}
{"id": "UniProtKB:O00716-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor E2F3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00716-1", "PR:O00716-1", "ENSEMBL:ENSP00000262904", "ENSEMBL:ENSP00000262904.4"], "information_content": 95.4}
{"id": "UniProtKB:P56696-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium voltage-gated channel subfamily KQT member 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P56696-1", "PR:P56696-1", "ENSEMBL:ENSP00000262916", "ENSEMBL:ENSP00000262916.6"], "information_content": 100.0}
{"id": "MONDO:0007797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoparathyroidism-deafness-renal disease syndrome", "equivalent_identifiers": ["MONDO:0007797", "DOID:0060878", "OMIM:146255", "orphanet:2237", "UMLS:C1840333", "MESH:C537907", "MEDDRA:10075281", "MEDDRA:10087425", "NCIT:C130983", "SNOMEDCT:724282009", "medgen:374443"], "information_content": 100.0}
{"id": "UniProtKB:O75882-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "attractin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75882-1", "PR:O75882-1", "ENSEMBL:ENSP00000262919", "ENSEMBL:ENSP00000262919.5"], "information_content": 100.0}
{"id": "MONDO:0006608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seborrheic dermatitis", "equivalent_identifiers": ["MONDO:0006608", "DOID:8741", "EFO:1000764", "UMLS:C0036508", "UMLS:C3806554", "MESH:D012628", "MEDDRA:10012488", "MEDDRA:10012489", "MEDDRA:10014204", "MEDDRA:10039788", "MEDDRA:10039789", "MEDDRA:10039793", "MEDDRA:10039795", "MEDDRA:10062813", "MEDDRA:10062814", "NCIT:C111888", "SNOMEDCT:50563003", "SNOMEDCT:86708008", "medgen:19912", "ICD10:L21", "ICD9:690.1", "HP:0001051"], "information_content": 90.9}
{"id": "UniProtKB:O43374-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras GTPase-activating protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43374-1", "PR:O43374-1", "ENSEMBL:ENSP00000262940", "ENSEMBL:ENSP00000262940.8"], "information_content": 100.0}
{"id": "UniProtKB:Q92747-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin-related protein 2/3 complex subunit 1A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92747-1", "PR:Q92747-1", "ENSEMBL:ENSP00000262942", "ENSEMBL:ENSP00000262942.5"], "information_content": 100.0}
{"id": "NCBIGene:56005", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYDGF", "equivalent_identifiers": ["NCBIGene:56005", "ENSEMBL:ENSG00000074842", "HGNC:16948", "OMIM:606746", "UMLS:C1424658", "UniProtKB:Q969H8", "PR:Q969H8", "ENSEMBL:ENSP00000262947", "ENSEMBL:ENSP00000262947.2", "UMLS:C1432527", "MESH:C464565"], "information_content": 95.4}
{"id": "NCBIGene:5605", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAP2K2", "equivalent_identifiers": ["NCBIGene:5605", "ENSEMBL:ENSG00000126934", "HGNC:6842", "OMIM:601263", "UMLS:C1456385", "UniProtKB:B3KS97", "UniProtKB:P36507", "PR:P36507", "ENSEMBL:ENSP00000262948", "ENSEMBL:ENSP00000262948.4", "UMLS:C1434641", "MESH:C482128"], "information_content": 83.1}
{"id": "NCBIGene:2769", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNA15", "equivalent_identifiers": ["NCBIGene:2769", "ENSEMBL:ENSG00000060558", "HGNC:4383", "OMIM:139314", "UMLS:C1415141", "UniProtKB:P30679", "PR:P30679", "ENSEMBL:ENSP00000262958", "ENSEMBL:ENSP00000262958.2", "UMLS:C1172604"], "information_content": 89.4}
{"id": "UniProtKB:Q86TI2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dipeptidyl peptidase 9 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86TI2-2", "PR:Q86TI2-2", "ENSEMBL:ENSP00000262960", "ENSEMBL:ENSP00000262960.8", "ENSEMBL:ENSP00000471629", "ENSEMBL:ENSP00000471629.2", "ENSEMBL:ENSP00000472549", "ENSEMBL:ENSP00000472549.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPR6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger RNA-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPR6-1", "PR:Q9UPR6-1", "ENSEMBL:ENSP00000262961", "ENSEMBL:ENSP00000262961.3"], "information_content": 100.0}
{"id": "NCBIGene:55702", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YJU2", "equivalent_identifiers": ["NCBIGene:55702", "ENSEMBL:ENSG00000105248", "HGNC:25518", "UMLS:C1824621", "UniProtKB:Q9BW85", "PR:Q9BW85", "ENSEMBL:ENSP00000262962", "ENSEMBL:ENSP00000262962.6"], "information_content": 100.0}
{"id": "UniProtKB:P15923-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor E2-alpha isoform hE12 (human)", "equivalent_identifiers": ["UniProtKB:P15923-1", "PR:P15923-1", "ENSEMBL:ENSP00000262965", "ENSEMBL:ENSP00000262965.5"], "information_content": 100.0}
{"id": "NCBIGene:51588", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIAS4", "equivalent_identifiers": ["NCBIGene:51588", "ENSEMBL:ENSG00000105229", "HGNC:17002", "OMIM:605989", "UMLS:C1538643", "UniProtKB:B3KMR4", "UMLS:C1436954", "MESH:C485891", "UniProtKB:Q8N2W9", "PR:Q8N2W9", "ENSEMBL:ENSP00000262971", "ENSEMBL:ENSP00000262971.1"], "information_content": 92.8}
{"id": "UniProtKB:P55060-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exportin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P55060-1", "PR:P55060-1", "ENSEMBL:ENSP00000262982", "ENSEMBL:ENSP00000262982.2"], "information_content": 100.0}
{"id": "MONDO:0000673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "integrative agnosia", "equivalent_identifiers": ["MONDO:0000673", "DOID:0060143"], "information_content": 100.0}
{"id": "MONDO:0013664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency", "equivalent_identifiers": ["MONDO:0013664", "DOID:0111773", "OMIM:614279", "orphanet:443087", "UMLS:C0342473", "UMLS:C1839840", "MESH:C564109", "SNOMEDCT:49013001", "medgen:333416"], "information_content": 100.0}
{"id": "NCBIGene:27309", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF330", "equivalent_identifiers": ["NCBIGene:27309", "ENSEMBL:ENSG00000109445", "HGNC:15462", "OMIM:609550", "UMLS:C1423505", "UniProtKB:B4DFG9", "UMLS:C1097358", "MESH:C435644", "UniProtKB:Q53EN0", "UniProtKB:Q9Y3S2", "PR:Q9Y3S2", "ENSEMBL:ENSP00000262990", "ENSEMBL:ENSP00000262990.4"], "information_content": 90.9}
{"id": "MONDO:0004763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carotid artery dissection", "equivalent_identifiers": ["MONDO:0004763", "DOID:9348", "UMLS:C0338585", "MEDDRA:10050403", "NCIT:C125662", "SNOMEDCT:720626009", "medgen:488844", "ICD10:I77.71", "ICD9:443.21", "HP:0012158"], "information_content": 88.2}
{"id": "UniProtKB:Q13480-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GRB2-associated-binding protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13480-2", "PR:Q13480-2", "ENSEMBL:ENSP00000262995", "ENSEMBL:ENSP00000262995.4"], "information_content": 100.0}
{"id": "NCBIGene:7350", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UCP1", "equivalent_identifiers": ["NCBIGene:7350", "ENSEMBL:ENSG00000109424", "HGNC:12517", "OMIM:113730", "UMLS:C1421313", "UniProtKB:P25874", "PR:P25874", "ENSEMBL:ENSP00000262999", "ENSEMBL:ENSP00000262999.3", "UMLS:C1505937", "MESH:C000604371", "UniProtKB:Q4KMT7"], "information_content": 95.4}
{"id": "UniProtKB:P27361-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P27361-1", "PR:P27361-1", "ENSEMBL:ENSP00000263025", "ENSEMBL:ENSP00000263025.4"], "information_content": 95.4}
{"id": "NCBIGene:29904", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EEF2K", "equivalent_identifiers": ["NCBIGene:29904", "ENSEMBL:ENSG00000103319", "HGNC:24615", "OMIM:606968", "UMLS:C1539329", "UniProtKB:A0AAG2TFE4", "ENSEMBL:ENSP00000492375", "ENSEMBL:ENSP00000492375.1", "ENSEMBL:ENSP00000494400", "ENSEMBL:ENSP00000494400.1", "UniProtKB:O00418", "PR:O00418", "ENSEMBL:ENSP00000263026", "ENSEMBL:ENSP00000263026.5", "UMLS:C1870461", "MESH:C517689"], "information_content": 89.4}
{"id": "NCBIGene:55526", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DHTKD1", "equivalent_identifiers": ["NCBIGene:55526", "ENSEMBL:ENSG00000181192", "HGNC:23537", "OMIM:614984", "UMLS:C1428130", "UniProtKB:Q96HY7", "PR:Q96HY7", "ENSEMBL:ENSP00000263035", "ENSEMBL:ENSP00000263035.4", "UMLS:C3657993", "MESH:C578281"], "information_content": 92.8}
{"id": "UniProtKB:O14832-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phytanoyl-CoA dioxygenase, peroxisomal isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14832-1", "PR:O14832-1", "ENSEMBL:ENSP00000263038", "ENSEMBL:ENSP00000263038.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8WY21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "VPS10 domain-containing receptor SorCS1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WY21-1", "PR:Q8WY21-1", "ENSEMBL:ENSP00000263054", "ENSEMBL:ENSP00000263054.5"], "information_content": 100.0}
{"id": "UniProtKB:P41279-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P41279-1", "PR:P41279-1", "ENSEMBL:ENSP00000263056", "ENSEMBL:ENSP00000263056.1", "ENSEMBL:ENSP00000364470", "ENSEMBL:ENSP00000364470.1", "ENSEMBL:ENSP00000443610", "ENSEMBL:ENSP00000443610.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2F5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "enhancer of polycomb homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2F5-1", "PR:Q9H2F5-1", "ENSEMBL:ENSP00000263062", "ENSEMBL:ENSP00000263062.8"], "information_content": 100.0}
{"id": "MONDO:0032786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 11", "equivalent_identifiers": ["MONDO:0032786", "DOID:0112169", "OMIM:618499", "UMLS:C5193130", "NCIT:C177119", "medgen:1681177"], "information_content": 100.0}
{"id": "MONDO:0014143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 8", "equivalent_identifiers": ["MONDO:0014143", "DOID:0060586", "OMIM:615355", "UMLS:C3809233", "NCIT:C176936", "medgen:815563"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVV4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly(A) RNA polymerase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVV4-1", "PR:Q9NVV4-1", "ENSEMBL:ENSP00000263063", "ENSEMBL:ENSP00000263063.3"], "information_content": 100.0}
{"id": "MONDO:0011906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bile acid synthesis defect 1", "equivalent_identifiers": ["MONDO:0011906", "DOID:0111071", "OMIM:607765", "orphanet:79301", "UMLS:C1843116", "MESH:C535442", "SNOMEDCT:238033007", "medgen:335883"], "information_content": 100.0}
{"id": "UniProtKB:Q14162-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "scavenger receptor class F member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14162-1", "PR:Q14162-1", "ENSEMBL:ENSP00000263071", "ENSEMBL:ENSP00000263071.4", "ENSEMBL:ENSP00000481595", "ENSEMBL:ENSP00000481595.1"], "information_content": 100.0}
{"id": "MONDO:0014006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schuurs-Hoeijmakers syndrome", "equivalent_identifiers": ["MONDO:0014006", "DOID:0070047", "OMIM:615009", "orphanet:329224", "UMLS:C3554343", "MEDDRA:10089146", "MEDDRA:10089148", "NCIT:C150555", "SNOMEDCT:773581009", "medgen:767257"], "information_content": 100.0}
{"id": "UniProtKB:Q86US8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "telomerase-binding protein EST1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86US8-1", "PR:Q86US8-1", "ENSEMBL:ENSP00000263073", "ENSEMBL:ENSP00000263073.5"], "information_content": 100.0}
{"id": "MONDO:0019402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "beta thalassemia", "equivalent_identifiers": ["MONDO:0019402", "DOID:12241", "orphanet:848", "UMLS:C0005283", "MESH:D017086", "MEDDRA:10004505", "MEDDRA:10004514", "MEDDRA:10043391", "MEDDRA:10054660", "NCIT:C34375", "SNOMEDCT:65959000", "medgen:2611", "icd11.foundation:2063292324", "ICD10:D56.1", "ICD9:282.44"], "information_content": 87.2}
{"id": "NCBIGene:443", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASPA", "equivalent_identifiers": ["NCBIGene:443", "ENSEMBL:ENSG00000108381", "HGNC:756", "OMIM:608034", "UMLS:C1412591", "UniProtKB:P45381", "PR:P45381", "ENSEMBL:ENSP00000263080", "ENSEMBL:ENSP00000263080.2", "ENSEMBL:ENSP00000409976", "ENSEMBL:ENSP00000409976.2", "UMLS:C3489581", "UniProtKB:Q6FH48"], "information_content": 100.0}
{"id": "MONDO:0011391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephalic leukoencephalopathy with subcortical cysts", "equivalent_identifiers": ["MONDO:0011391", "DOID:0080315", "orphanet:2478", "UMLS:C1858854", "MESH:C536141", "SNOMEDCT:703536004", "medgen:347006"], "information_content": 90.9}
{"id": "MONDO:0012125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 2", "equivalent_identifiers": ["MONDO:0012125", "DOID:0060787", "OMIM:608804", "orphanet:280282", "UMLS:C1837355", "MESH:C563855", "SNOMEDCT:870287007", "medgen:325157", "ICD10:E75.2"], "information_content": 100.0}
{"id": "MONDO:0859518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 26, with chondrodysplasia", "equivalent_identifiers": ["MONDO:0859518", "DOID:0070403", "OMIM:620269", "UMLS:C5830312", "medgen:1840948"], "information_content": 100.0}
{"id": "MONDO:0012824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 4", "equivalent_identifiers": ["MONDO:0012824", "DOID:0060789", "OMIM:612233", "orphanet:280288", "UMLS:C2677109", "MESH:C567390", "SNOMEDCT:870284000", "medgen:383026"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZG8-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZG8-4", "PR:Q9BZG8-4", "ENSEMBL:ENSP00000263083", "ENSEMBL:ENSP00000263083.7"], "information_content": 100.0}
{"id": "NCBIGene:3682", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITGAE", "equivalent_identifiers": ["NCBIGene:3682", "ENSEMBL:ENSG00000083457", "HGNC:6147", "OMIM:604682", "UMLS:C1416493", "UniProtKB:P38570", "PR:P38570", "ENSEMBL:ENSP00000263087", "ENSEMBL:ENSP00000263087.4", "UMLS:C1141628"], "information_content": 88.2}
{"id": "UniProtKB:O14939-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipase D2 isoform PLD2A (human)", "equivalent_identifiers": ["UniProtKB:O14939-1", "PR:O14939-1", "ENSEMBL:ENSP00000263088", "ENSEMBL:ENSP00000263088.5"], "information_content": 100.0}
{"id": "UniProtKB:Q86W50-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA N(6)-adenosine-methyltransferase METTL16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86W50-1", "PR:Q86W50-1", "ENSEMBL:ENSP00000263092", "ENSEMBL:ENSP00000263092.5"], "information_content": 100.0}
{"id": "MONDO:0010828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 11", "equivalent_identifiers": ["MONDO:0010828", "DOID:0110408", "OMIM:600138", "UMLS:C1838601", "MESH:C563991", "medgen:325055"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2P5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "long-chain fatty acid transport protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2P5-1", "PR:Q9Y2P5-1", "ENSEMBL:ENSP00000263093", "ENSEMBL:ENSP00000263093.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZY2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid-transporting ATPase ABCA7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZY2-1", "PR:Q8IZY2-1", "ENSEMBL:ENSP00000263094", "ENSEMBL:ENSP00000263094.6"], "information_content": 100.0}
{"id": "UniProtKB:P04217-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-1B-glycoprotein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P04217-1", "PR:P04217-1", "ENSEMBL:ENSP00000263100", "ENSEMBL:ENSP00000263100.2"], "information_content": 100.0}
{"id": "NCBIGene:8030", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC6", "equivalent_identifiers": ["NCBIGene:8030", "ENSEMBL:ENSG00000108091", "HGNC:18782", "OMIM:601985", "UMLS:C1425774", "UniProtKB:Q05CP8", "UniProtKB:Q16204", "PR:Q16204", "ENSEMBL:ENSP00000263102", "ENSEMBL:ENSP00000263102.6", "UMLS:C1437782", "MESH:C088832"], "information_content": 90.9}
{"id": "MONDO:0006509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papillary carcinoma", "equivalent_identifiers": ["MONDO:0006509", "DOID:3113", "EFO:1000646", "UMLS:C0007133", "MESH:D002291", "NCIT:C2927", "SNOMEDCT:25910003", "medgen:40105"], "information_content": 65.2}
{"id": "MONDO:0030917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 51", "equivalent_identifiers": ["MONDO:0030917", "DOID:0080232", "OMIM:617788", "orphanet:684226", "UMLS:C4540474", "medgen:1625009"], "information_content": 100.0}
{"id": "MONDO:0004669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "salivary gland cancer", "equivalent_identifiers": ["MONDO:0004669", "DOID:8850", "EFO:0003826", "UMLS:C0036095", "UMLS:C0153362", "UMLS:C0220636", "MESH:D012468", "MEDDRA:10026445", "MEDDRA:10026677", "MEDDRA:10026684", "MEDDRA:10039396", "MEDDRA:10039397", "MEDDRA:10039418", "MEDDRA:10061497", "MEDDRA:10061934", "NCIT:C3811", "SNOMEDCT:255072001", "medgen:65079", "ICD10:C08", "ICD10:D11", "ICD9:142.8", "HP:0100684"], "information_content": 65.1}
{"id": "UniProtKB:O95755-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-36 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95755-1", "PR:O95755-1", "ENSEMBL:ENSP00000263116", "ENSEMBL:ENSP00000263116.3"], "information_content": 100.0}
{"id": "UniProtKB:Q04759-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein kinase C theta type isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q04759-1", "PR:Q04759-1", "ENSEMBL:ENSP00000263125", "ENSEMBL:ENSP00000263125.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2I8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 37 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2I8-1", "PR:Q9Y2I8-1", "ENSEMBL:ENSP00000263150", "ENSEMBL:ENSP00000263150.4", "ENSEMBL:ENSP00000350954", "ENSEMBL:ENSP00000350954.1"], "information_content": 100.0}
{"id": "MONDO:0032850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurooculocardiogenitourinary syndrome", "equivalent_identifiers": ["MONDO:0032850", "DOID:0111675", "OMIM:618652", "orphanet:684305", "EFO:0010663", "UMLS:C5231443", "medgen:1684841"], "information_content": 100.0}
{"id": "NCBIGene:57084", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC17A6", "equivalent_identifiers": ["NCBIGene:57084", "ENSEMBL:ENSG00000091664", "HGNC:16703", "OMIM:607563", "UMLS:C1424492", "UniProtKB:Q9P2U8", "PR:Q9P2U8", "ENSEMBL:ENSP00000263160", "ENSEMBL:ENSP00000263160.3", "UMLS:C1528215", "MESH:C493476"], "information_content": 95.4}
{"id": "NCBIGene:829", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAPZA1", "equivalent_identifiers": ["NCBIGene:829", "ENSEMBL:ENSG00000116489", "HGNC:1488", "OMIM:601580", "UMLS:C1413121", "UniProtKB:P52907", "PR:P52907", "ENSEMBL:ENSP00000263168", "ENSEMBL:ENSP00000263168.3", "UMLS:C1565243", "MESH:C495842"], "information_content": 86.3}
{"id": "UniProtKB:Q9NP74-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmdelphin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP74-1", "PR:Q9NP74-1", "ENSEMBL:ENSP00000263174", "ENSEMBL:ENSP00000263174.4"], "information_content": 100.0}
{"id": "MONDO:0008156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant osteopetrosis 2", "equivalent_identifiers": ["MONDO:0008156", "DOID:0110938", "OMIM:166600", "orphanet:53", "UMLS:C3179239", "SNOMEDCT:725050005", "medgen:465707"], "information_content": 100.0}
{"id": "UniProtKB:Q32ZL2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid phosphatase-related protein type 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q32ZL2-1", "PR:Q32ZL2-1", "ENSEMBL:ENSP00000263177", "ENSEMBL:ENSP00000263177.4"], "information_content": 100.0}
{"id": "MONDO:0005663", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Barre-Lieou syndrome", "equivalent_identifiers": ["MONDO:0005663", "DOID:6692", "EFO:0007165", "UMLS:C0376378", "UMLS:C2355645", "MESH:D055010", "MEDDRA:10008336", "MEDDRA:10042744", "MEDDRA:10068282", "NCIT:C34411", "SNOMEDCT:17300000", "medgen:87688", "ICD10:M53.0"], "information_content": 100.0}
{"id": "MONDO:0013453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 8", "equivalent_identifiers": ["MONDO:0013453", "DOID:0110079", "OMIM:613835", "UMLS:C3151202", "medgen:462552"], "information_content": 100.0}
{"id": "MONDO:0007424", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 1", "equivalent_identifiers": ["MONDO:0007424", "DOID:0110541", "OMIM:124900", "UMLS:C1852282", "MESH:C565121", "medgen:343767"], "information_content": 100.0}
{"id": "NCBIGene:81930", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIF18A", "equivalent_identifiers": ["NCBIGene:81930", "ENSEMBL:ENSG00000121621", "HGNC:29441", "OMIM:611271", "UMLS:C1537484", "UniProtKB:Q8NI77", "PR:Q8NI77", "ENSEMBL:ENSP00000263181", "ENSEMBL:ENSP00000263181.6", "UMLS:C1610793", "MESH:C502735"], "information_content": 88.2}
{"id": "NCBIGene:8424", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BBOX1", "equivalent_identifiers": ["NCBIGene:8424", "ENSEMBL:ENSG00000129151", "HGNC:964", "OMIM:603312", "UMLS:C1412745", "UniProtKB:O75936", "PR:O75936", "ENSEMBL:ENSP00000263182", "ENSEMBL:ENSP00000263182.3", "ENSEMBL:ENSP00000433772", "ENSEMBL:ENSP00000433772.1", "ENSEMBL:ENSP00000434918", "ENSEMBL:ENSP00000434918.1", "ENSEMBL:ENSP00000435781", "ENSEMBL:ENSP00000435781.1", "UMLS:C5391625", "MESH:C000706691"], "information_content": 95.4}
{"id": "NCBIGene:4438", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MSH4", "equivalent_identifiers": ["NCBIGene:4438", "ENSEMBL:ENSG00000057468", "HGNC:7327", "OMIM:602105", "UMLS:C1334532", "UniProtKB:O15457", "PR:O15457", "ENSEMBL:ENSP00000263187", "ENSEMBL:ENSP00000263187.3", "UMLS:C0667839", "MESH:C409221"], "information_content": 100.0}
{"id": "UniProtKB:P98153-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integral membrane protein DGCR2/IDD isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P98153-1", "PR:P98153-1", "ENSEMBL:ENSP00000263196", "ENSEMBL:ENSP00000263196.7"], "information_content": 100.0}
{"id": "MONDO:0012740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 22q11.2 deletion syndrome, distal", "equivalent_identifiers": ["MONDO:0012740", "DOID:0060413", "OMIM:611867", "orphanet:261330", "UMLS:C2678480", "UMLS:C4518343", "MESH:C567511", "SNOMEDCT:734029004", "medgen:395634"], "information_content": 100.0}
{"id": "UniProtKB:Q92890-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin recognition factor in ER-associated degradation protein 1 isoform Short (human)", "equivalent_identifiers": ["UniProtKB:Q92890-2", "PR:Q92890-2", "ENSEMBL:ENSP00000263202", "ENSEMBL:ENSP00000263202.9"], "information_content": 100.0}
{"id": "UniProtKB:Q96RN5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RN5-1", "PR:Q96RN5-1", "ENSEMBL:ENSP00000263205", "ENSEMBL:ENSP00000263205.7"], "information_content": 100.0}
{"id": "UniProtKB:O00192-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "splicing regulator ARVCF isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O00192-1", "PR:O00192-1", "ENSEMBL:ENSP00000263207", "ENSEMBL:ENSP00000263207.3"], "information_content": 100.0}
{"id": "UniProtKB:P54198-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein HIRA isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P54198-1", "PR:P54198-1", "ENSEMBL:ENSP00000263208", "ENSEMBL:ENSP00000263208.5"], "information_content": 100.0}
{"id": "MONDO:0000984", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thalassemia", "equivalent_identifiers": ["MONDO:0000984", "DOID:10241", "EFO:1001996", "UMLS:C0039730", "MESH:D013789", "MEDDRA:10043388", "MEDDRA:10043389", "MEDDRA:10043394", "MEDDRA:10054658", "NCIT:C35069", "SNOMEDCT:40108008", "SNOMEDCT:84188003", "medgen:21121", "ICD10:D56", "ICD9:282.4"], "information_content": 78.0}
{"id": "MONDO:0010672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MLS syndrome", "equivalent_identifiers": ["MONDO:0010672", "DOID:0111875", "OMIM.PS:309801", "orphanet:2556", "MESH:C537466", "SNOMEDCT:721879006"], "information_content": 90.9}
{"id": "UniProtKB:Q8WYQ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microprocessor complex subunit DGCR8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYQ5-1", "PR:Q8WYQ5-1", "ENSEMBL:ENSP00000263209", "ENSEMBL:ENSP00000263209.3", "ENSEMBL:ENSP00000409625", "ENSEMBL:ENSP00000409625.2"], "information_content": 100.0}
{"id": "UniProtKB:P49593-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1F isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49593-1", "PR:P49593-1", "ENSEMBL:ENSP00000263212", "ENSEMBL:ENSP00000263212.5"], "information_content": 100.0}
{"id": "UniProtKB:P08247-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptophysin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08247-1", "PR:P08247-1", "ENSEMBL:ENSP00000263233", "ENSEMBL:ENSP00000263233.4", "ENSEMBL:ENSP00000418169", "ENSEMBL:ENSP00000418169.1"], "information_content": 100.0}
{"id": "MONDO:0024323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glomangiomyoma", "equivalent_identifiers": ["MONDO:0024323", "DOID:8020", "UMLS:C0334422", "NCIT:C4223", "SNOMEDCT:189745002", "SNOMEDCT:34550005", "medgen:87240"], "information_content": 95.4}
{"id": "MONDO:0004035", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glomangiomatosis", "equivalent_identifiers": ["MONDO:0004035", "DOID:6906", "UMLS:C1333824", "NCIT:C27496", "SNOMEDCT:1293124003", "SNOMEDCT:703603008", "medgen:234311"], "information_content": 100.0}
{"id": "NCBIGene:10096", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTR3", "equivalent_identifiers": ["NCBIGene:10096", "ENSEMBL:ENSG00000115091", "HGNC:170", "OMIM:604222", "UMLS:C1412172", "UniProtKB:B4DXW1", "ENSEMBL:ENSP00000444987", "ENSEMBL:ENSP00000444987.1", "UMLS:C1130485", "MESH:C495928", "UniProtKB:P61158", "PR:P61158", "ENSEMBL:ENSP00000263238", "ENSEMBL:ENSP00000263238.2"], "information_content": 84.8}
{"id": "NCBIGene:8886", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX18", "equivalent_identifiers": ["NCBIGene:8886", "ENSEMBL:ENSG00000088205", "HGNC:2741", "OMIM:606355", "UMLS:C1413958", "UniProtKB:Q8N254", "UMLS:C2353943", "MESH:C529049", "UniProtKB:Q9NVP1", "PR:Q9NVP1", "ENSEMBL:ENSP00000263239", "ENSEMBL:ENSP00000263239.2"], "information_content": 90.9}
{"id": "UniProtKB:Q9NP61-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor GTPase-activating protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP61-1", "PR:Q9NP61-1", "ENSEMBL:ENSP00000263245", "ENSEMBL:ENSP00000263245.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNF0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein kinase C and casein kinase substrate in neurons protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNF0-1", "PR:Q9UNF0-1", "ENSEMBL:ENSP00000263246", "ENSEMBL:ENSP00000263246.3", "ENSEMBL:ENSP00000385040", "ENSEMBL:ENSP00000385040.1", "ENSEMBL:ENSP00000385372", "ENSEMBL:ENSP00000385372.3"], "information_content": 100.0}
{"id": "NCBIGene:2033", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EP300", "equivalent_identifiers": ["NCBIGene:2033", "ENSEMBL:ENSG00000100393", "HGNC:3373", "OMIM:602700", "UMLS:C1333336", "UniProtKB:A0A669KB12", "ENSEMBL:ENSP00000501078", "ENSEMBL:ENSP00000501078.1", "UniProtKB:Q09472", "PR:Q09472", "ENSEMBL:ENSP00000263253", "ENSEMBL:ENSP00000263253.7", "ENSEMBL:ENSP00000520505", "ENSEMBL:ENSP00000520505.1", "UMLS:C1530358", "MESH:C494360", "UniProtKB:Q7Z6C1"], "information_content": 86.3}
{"id": "NCBIGene:27351", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DESI1", "equivalent_identifiers": ["NCBIGene:27351", "ENSEMBL:ENSG00000100418", "HGNC:24577", "OMIM:614637", "UMLS:C3470073", "UniProtKB:Q6ICB0", "PR:Q6ICB0", "ENSEMBL:ENSP00000263256", "ENSEMBL:ENSP00000263256.6"], "information_content": 90.9}
{"id": "NCBIGene:4858", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOVA2", "equivalent_identifiers": ["NCBIGene:4858", "ENSEMBL:ENSG00000104967", "HGNC:7887", "OMIM:601991", "UMLS:C1334891", "UniProtKB:Q9UNW9", "PR:Q9UNW9", "ENSEMBL:ENSP00000263257", "ENSEMBL:ENSP00000263257.4", "UMLS:C0753802", "MESH:C406163"], "information_content": 100.0}
{"id": "UniProtKB:Q8N565-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanoregulin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N565-1", "PR:Q8N565-1", "ENSEMBL:ENSP00000263268", "ENSEMBL:ENSP00000263268.6"], "information_content": 100.0}
{"id": "NCBIGene:2906", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRIN2D", "equivalent_identifiers": ["NCBIGene:2906", "ENSEMBL:ENSG00000105464", "HGNC:4588", "OMIM:602717", "UMLS:C1415302", "UniProtKB:O15399", "PR:O15399", "ENSEMBL:ENSP00000263269", "ENSEMBL:ENSP00000263269.2", "UMLS:C4507131", "MESH:C000619303", "UniProtKB:Q59G17"], "information_content": 92.8}
{"id": "UniProtKB:P18858-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA ligase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P18858-1", "PR:P18858-1", "ENSEMBL:ENSP00000263274", "ENSEMBL:ENSP00000263274.6", "ENSEMBL:ENSP00000514664", "ENSEMBL:ENSP00000514664.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZN4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EH domain-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZN4-1", "PR:Q9NZN4-1", "ENSEMBL:ENSP00000263277", "ENSEMBL:ENSP00000263277.2"], "information_content": 100.0}
{"id": "NCBIGene:51171", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSD17B14", "equivalent_identifiers": ["NCBIGene:51171", "ENSEMBL:ENSG00000087076", "HGNC:23238", "OMIM:612832", "UMLS:C1825530", "UniProtKB:A0A140VJH8", "UMLS:C1871345", "MESH:C518071", "UniProtKB:Q9BPX1", "PR:Q9BPX1", "ENSEMBL:ENSP00000263278", "ENSEMBL:ENSP00000263278.3"], "information_content": 100.0}
{"id": "MONDO:0007630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "North Carolina macular dystrophy", "equivalent_identifiers": ["MONDO:0007630", "DOID:0070439", "OMIM:136550", "orphanet:75327", "UMLS:C0730294", "MESH:C537835", "NCIT:C168999", "SNOMEDCT:312925009", "medgen:147590", "icd11.foundation:1931008217"], "information_content": 100.0}
{"id": "UniProtKB:Q9HBG7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-lymphocyte surface antigen Ly-9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBG7-1", "PR:Q9HBG7-1", "ENSEMBL:ENSP00000263285", "ENSEMBL:ENSP00000263285.5"], "information_content": 100.0}
{"id": "NCBIGene:5024", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "P2RX3", "equivalent_identifiers": ["NCBIGene:5024", "ENSEMBL:ENSG00000109991", "HGNC:8534", "OMIM:600843", "UMLS:C1418212", "UniProtKB:P56373", "PR:P56373", "ENSEMBL:ENSP00000263314", "ENSEMBL:ENSP00000263314.2", "UMLS:C2745744", "MESH:C546407"], "information_content": 92.8}
{"id": "MONDO:0001446", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "low compliance bladder", "equivalent_identifiers": ["MONDO:0001446", "DOID:12144", "UMLS:C0489967", "MEDDRA:10024894", "SNOMEDCT:9009001", "medgen:635444", "ICD9:596.52"], "information_content": 100.0}
{"id": "UniProtKB:Q9NPH5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADPH oxidase 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPH5-1", "PR:Q9NPH5-1", "ENSEMBL:ENSP00000263317", "ENSEMBL:ENSP00000263317.4"], "information_content": 100.0}
{"id": "UniProtKB:P14679-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P14679-1", "PR:P14679-1", "ENSEMBL:ENSP00000263321", "ENSEMBL:ENSP00000263321.4"], "information_content": 100.0}
{"id": "MONDO:0001910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ochronosis", "equivalent_identifiers": ["MONDO:0001910", "DOID:14223", "UMLS:C0028817", "UMLS:C0268493", "MESH:D009794", "MEDDRA:10051253", "NCIT:C84938", "SNOMEDCT:39838007", "SNOMEDCT:410042009", "medgen:45177", "ICD10:E70.29", "HP:0030764"], "information_content": 92.8}
{"id": "MONDO:0006359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PEComa", "equivalent_identifiers": ["MONDO:0006359", "DOID:2643", "orphanet:595133", "EFO:1000464", "UMLS:C1300127", "MESH:D054973", "MEDDRA:10085067", "MEDDRA:10085258", "MEDDRA:10085259", "NCIT:C38150", "SNOMEDCT:388601000", "medgen:266246"], "information_content": 76.0}
{"id": "MONDO:0019288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin pigmentation disorder", "equivalent_identifiers": ["MONDO:0019288", "DOID:10123", "orphanet:79374", "EFO:1000755", "UMLS:C0375489", "UMLS:C0549567", "UMLS:C1704421", "MESH:D010859", "MEDDRA:10035022", "MEDDRA:10035023", "MEDDRA:10062080", "NCIT:C34557", "SNOMEDCT:414032001", "SNOMEDCT:46690002", "SNOMEDCT:79644001", "medgen:316465", "ICD10:L81", "ICD9:709.09"], "information_content": 69.4}
{"id": "MONDO:0018092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Vogt-Koyanagi-Harada disease", "equivalent_identifiers": ["MONDO:0018092", "DOID:12297", "orphanet:3437", "UMLS:C0042170", "MESH:D014607", "MEDDRA:10019155", "MEDDRA:10047679", "MEDDRA:10047680", "MEDDRA:10082001", "NCIT:C85218", "SNOMEDCT:193497004", "medgen:22599", "ICD10:H20.82", "ICD9:364.24"], "information_content": 100.0}
{"id": "MONDO:0002531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin neoplasm", "equivalent_identifiers": ["MONDO:0002531", "DOID:3165", "EFO:0004198", "UMLS:C0037286", "MESH:D012878", "MEDDRA:10029098", "MEDDRA:10040897", "MEDDRA:10040940", "MEDDRA:10040941", "MEDDRA:10058215", "NCIT:C3372", "SNOMEDCT:126488004", "medgen:19993", "HP:0008069"], "information_content": 55.2}
{"id": "MONDO:0005462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primitive neuroectodermal tumor", "equivalent_identifiers": ["MONDO:0005462", "DOID:171", "EFO:0005235", "UMLS:C0206663", "MESH:D017599", "MESH:D018242", "MEDDRA:10057846", "MEDDRA:10057849", "NCIT:C3716", "SNOMEDCT:39781001", "SNOMEDCT:55045006", "SNOMEDCT:699028006", "medgen:64627", "HP:0030065"], "information_content": 68.0}
{"id": "MONDO:0006277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung lymphangioleiomyomatosis", "equivalent_identifiers": ["MONDO:0006277", "DOID:3319", "orphanet:538", "EFO:1000334", "UMLS:C0349649", "NCIT:C38153", "SNOMEDCT:277844007", "medgen:91161"], "information_content": 100.0}
{"id": "MONDO:0017827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant peripheral nerve sheath tumor", "equivalent_identifiers": ["MONDO:0017827", "DOID:5940", "orphanet:3148", "EFO:0000760", "UMLS:C0206729", "UMLS:C0751690", "UMLS:C1321708", "MEDDRA:10026667", "MEDDRA:10029236", "MEDDRA:10029239", "MEDDRA:10029273", "MEDDRA:10029276", "MEDDRA:10034589", "MEDDRA:10034590", "MEDDRA:10058387", "MEDDRA:10061527", "MEDDRA:10073836", "MEDDRA:10081318", "NCIT:C3798", "SNOMEDCT:19897006", "SNOMEDCT:404037002", "SNOMEDCT:77418004", "medgen:155614", "icd11.foundation:71413945", "HP:0100697"], "information_content": 74.7}
{"id": "MONDO:0003867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse meningeal melanocytosis", "equivalent_identifiers": ["MONDO:0003867", "DOID:6379", "EFO:1000216", "UMLS:C1266112", "NCIT:C6890", "SNOMEDCT:128729004", "medgen:226841"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZH6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-37 isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q9NZH6-1", "PR:Q9NZH6-1", "ENSEMBL:ENSP00000263326", "ENSEMBL:ENSP00000263326.3"], "information_content": 100.0}
{"id": "UniProtKB:Q06710-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paired box protein Pax-8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q06710-1", "PR:Q06710-1", "ENSEMBL:ENSP00000263334", "ENSEMBL:ENSP00000263334.6", "ENSEMBL:ENSP00000395498", "ENSEMBL:ENSP00000395498.3"], "information_content": 100.0}
{"id": "NCBIGene:3552", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL1A", "equivalent_identifiers": ["NCBIGene:3552", "ENSEMBL:ENSG00000115008", "HGNC:5991", "OMIM:147760", "UMLS:C1334111", "UniProtKB:P01583", "PR:P01583", "ENSEMBL:ENSP00000263339", "ENSEMBL:ENSP00000263339.3", "UMLS:C1702299", "MESH:C508584"], "information_content": 89.4}
{"id": "NCBIGene:3553", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL1B", "equivalent_identifiers": ["NCBIGene:3553", "ENSEMBL:ENSG00000125538", "HGNC:5992", "OMIM:147720", "UMLS:C1334112", "UniProtKB:P01584", "PR:P01584", "ENSEMBL:ENSP00000263341", "ENSEMBL:ENSP00000263341.2", "UMLS:C1702300", "MESH:C508585"], "information_content": 92.8}
{"id": "NCBIGene:22980", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCF25", "equivalent_identifiers": ["NCBIGene:22980", "ENSEMBL:ENSG00000141002", "HGNC:29181", "OMIM:612326", "UMLS:C1823255", "UniProtKB:Q9BQ70", "PR:Q9BQ70", "ENSEMBL:ENSP00000263346", "ENSEMBL:ENSP00000263346.8", "ENSEMBL:ENSP00000491638", "ENSEMBL:ENSP00000491638.1", "UMLS:C1721841", "MESH:C510400"], "information_content": 89.4}
{"id": "NCBIGene:8775", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAPA", "equivalent_identifiers": ["NCBIGene:8775", "ENSEMBL:ENSG00000105402", "HGNC:7641", "OMIM:603215", "UMLS:C1417599", "UniProtKB:P54920", "PR:P54920", "ENSEMBL:ENSP00000263354", "ENSEMBL:ENSP00000263354.2", "UMLS:C4285219"], "information_content": 86.3}
{"id": "NCBIGene:645", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BLVRB", "equivalent_identifiers": ["NCBIGene:645", "ENSEMBL:ENSG00000090013", "HGNC:1063", "OMIM:600941", "UMLS:C1412802", "UniProtKB:P30043", "PR:P30043", "ENSEMBL:ENSP00000263368", "ENSEMBL:ENSP00000263368.3", "UniProtKB:V9HWI1"], "information_content": 82.6}
{"id": "NCBIGene:80271", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITPKC", "equivalent_identifiers": ["NCBIGene:80271", "ENSEMBL:ENSG00000086544", "HGNC:14897", "OMIM:606476", "UMLS:C1423036", "UniProtKB:A0A8V8TPP3", "ENSEMBL:ENSP00000514400", "ENSEMBL:ENSP00000514400.1", "UniProtKB:Q96DU7", "PR:Q96DU7", "ENSEMBL:ENSP00000263370", "ENSEMBL:ENSP00000263370.1", "ENSEMBL:ENSP00000514401", "ENSEMBL:ENSP00000514401.1", "UMLS:C1622238", "UMLS:C4285650"], "information_content": 95.4}
{"id": "MONDO:0001389", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital coronary artery anomaly", "equivalent_identifiers": ["MONDO:0001389", "DOID:11843", "UMLS:C0158623", "MEDDRA:10010425", "MEDDRA:10011072", "MEDDRA:10061060", "SNOMEDCT:28574005", "medgen:510602", "ICD9:746.85", "HP:0006704"], "information_content": 75.3}
{"id": "MONDO:0006715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coronary stenosis", "equivalent_identifiers": ["MONDO:0006715", "DOID:4248", "UMLS:C0242231", "MESH:D023921", "MEDDRA:10011089", "NCIT:C80427", "SNOMEDCT:233970002", "medgen:66859", "HP:0005145"], "information_content": 90.9}
{"id": "UniProtKB:Q9Y257-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium channel subfamily K member 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y257-1", "PR:Q9Y257-1", "ENSEMBL:ENSP00000263372", "ENSEMBL:ENSP00000263372.2"], "information_content": 100.0}
{"id": "UniProtKB:O60885-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain-containing protein 4 isoform A (human)", "equivalent_identifiers": ["UniProtKB:O60885-1", "PR:O60885-1", "ENSEMBL:ENSP00000263377", "ENSEMBL:ENSP00000263377.1", "ENSEMBL:ENSP00000506350", "ENSEMBL:ENSP00000506350.1"], "information_content": 100.0}
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{"id": "NCBIGene:55723", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASF1B", "equivalent_identifiers": ["NCBIGene:55723", "ENSEMBL:ENSG00000105011", "HGNC:20996", "OMIM:609190", "UMLS:C1427234", "UniProtKB:Q9NVP2", "PR:Q9NVP2", "ENSEMBL:ENSP00000263382", "ENSEMBL:ENSP00000263382.3", "ENSEMBL:ENSP00000499863", "ENSEMBL:ENSP00000499863.1", "UMLS:C1310142", "MESH:C491640"], "information_content": 92.8}
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{"id": "UniProtKB:O95402-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 26 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95402-1", "PR:O95402-1", "ENSEMBL:ENSP00000263390", "ENSEMBL:ENSP00000263390.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9P000-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "COMM domain-containing protein 9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P000-1", "PR:Q9P000-1", "ENSEMBL:ENSP00000263401", "ENSEMBL:ENSP00000263401.5"], "information_content": 100.0}
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{"id": "NCBIGene:729", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C6", "equivalent_identifiers": ["NCBIGene:729", "ENSEMBL:ENSG00000039537", "HGNC:1339", "OMIM:217050", "UMLS:C1413014", "UniProtKB:P13671", "PR:P13671", "ENSEMBL:ENSP00000263413", "ENSEMBL:ENSP00000263413.3", "ENSEMBL:ENSP00000338861", "ENSEMBL:ENSP00000338861.5", "UMLS:C5551433"], "information_content": 90.9}
{"id": "UniProtKB:P05129-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein kinase C gamma type isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P05129-1", "PR:P05129-1", "ENSEMBL:ENSP00000263431", "ENSEMBL:ENSP00000263431.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZL4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1 regulatory subunit 12C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZL4-1", "PR:Q9BZL4-1", "ENSEMBL:ENSP00000263433", "ENSEMBL:ENSP00000263433.1"], "information_content": 100.0}
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{"id": "NCBIGene:55717", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR11", "equivalent_identifiers": ["NCBIGene:55717", "ENSEMBL:ENSG00000120008", "HGNC:13831", "OMIM:606417", "UMLS:C1823190", "UniProtKB:Q9BZH6", "PR:Q9BZH6", "ENSEMBL:ENSP00000263461", "ENSEMBL:ENSP00000263461.5", "UMLS:C1432272", "MESH:C435527"], "information_content": 86.3}
{"id": "MONDO:0001725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "balanitis xerotica obliterans", "equivalent_identifiers": ["MONDO:0001725", "DOID:13477", "UMLS:C0152460", "MESH:D052798", "MEDDRA:10004077", "MEDDRA:10068590", "NCIT:C3523", "SNOMEDCT:198033005", "SNOMEDCT:700082001", "medgen:57542", "ICD9:607.81"], "information_content": 95.4}
{"id": "NCBIGene:330", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BIRC3", "equivalent_identifiers": ["NCBIGene:330", "ENSEMBL:ENSG00000023445", "HGNC:591", "OMIM:601721", "UMLS:C1332415", "UniProtKB:Q13489", "PR:Q13489", "ENSEMBL:ENSP00000263464", "ENSEMBL:ENSP00000263464.4", "ENSEMBL:ENSP00000432907", "ENSEMBL:ENSP00000432907.1", "ENSEMBL:ENSP00000501119", "ENSEMBL:ENSP00000501119.1", "UMLS:C0763658", "MESH:C494832"], "information_content": 95.4}
{"id": "NCBIGene:57562", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEP126", "equivalent_identifiers": ["NCBIGene:57562", "ENSEMBL:ENSG00000110318", "HGNC:29264", "OMIM:614634", "UMLS:C1825687", "UniProtKB:Q9P2H0", "PR:Q9P2H0", "ENSEMBL:ENSP00000263468", "ENSEMBL:ENSP00000263468.8", "UMLS:C3501424", "MESH:C575110"], "information_content": 100.0}
{"id": "MONDO:0007470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "calvarial doughnut lesions-bone fragility syndrome", "equivalent_identifiers": ["MONDO:0007470", "DOID:0080721", "OMIM:126550", "orphanet:85192", "UMLS:C1852022", "MESH:C565089", "SNOMEDCT:720598005", "medgen:377572"], "information_content": 100.0}
{"id": "MONDO:0010827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 14", "equivalent_identifiers": ["MONDO:0010827", "DOID:0110381", "OMIM:600132", "UMLS:C1838603", "MESH:C563992", "medgen:325056"], "information_content": 100.0}
{"id": "UniProtKB:P09131-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "P3 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P09131-1", "PR:P09131-1", "ENSEMBL:ENSP00000263512", "ENSEMBL:ENSP00000263512.4", "ENSEMBL:ENSP00000377212", "ENSEMBL:ENSP00000377212.4", "ENSEMBL:ENSP00000499188", "ENSEMBL:ENSP00000499188.1"], "information_content": 100.0}
{"id": "UniProtKB:Q16720-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plasma membrane calcium-transporting ATPase 3 isoform XB (human)", "equivalent_identifiers": ["UniProtKB:Q16720-1", "PR:Q16720-1", "ENSEMBL:ENSP00000263519", "ENSEMBL:ENSP00000263519.4", "ENSEMBL:ENSP00000343886", "ENSEMBL:ENSP00000343886.2"], "information_content": 100.0}
{"id": "NCBIGene:64761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PARP12", "equivalent_identifiers": ["NCBIGene:64761", "ENSEMBL:ENSG00000059378", "HGNC:21919", "OMIM:612481", "UMLS:C1826543", "UniProtKB:A4D1T0", "UniProtKB:G5E9U9", "ENSEMBL:ENSP00000417730", "ENSEMBL:ENSP00000417730.1", "UniProtKB:Q9H0J9", "PR:Q9H0J9", "ENSEMBL:ENSP00000263549", "ENSEMBL:ENSP00000263549.3"], "information_content": 100.0}
{"id": "UniProtKB:P13674-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prolyl 4-hydroxylase subunit alpha-1 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P13674-2", "PR:P13674-2", "ENSEMBL:ENSP00000263556", "ENSEMBL:ENSP00000263556.3", "ENSEMBL:ENSP00000362099", "ENSEMBL:ENSP00000362099.1"], "information_content": 100.0}
{"id": "UniProtKB:O75436-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 26A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75436-1", "PR:O75436-1", "ENSEMBL:ENSP00000263559", "ENSEMBL:ENSP00000263559.6", "ENSEMBL:ENSP00000362480", "ENSEMBL:ENSP00000362480.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHL0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent RNA helicase DDX25 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHL0-1", "PR:Q9UHL0-1", "ENSEMBL:ENSP00000263576", "ENSEMBL:ENSP00000263576.6"], "information_content": 100.0}
{"id": "UniProtKB:Q96CU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FAD-dependent oxidoreductase domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CU9-1", "PR:Q96CU9-1", "ENSEMBL:ENSP00000263578", "ENSEMBL:ENSP00000263578.5"], "information_content": 100.0}
{"id": "MONDO:0030020", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 44", "equivalent_identifiers": ["MONDO:0030020", "DOID:0070424", "OMIM:618855", "UMLS:C5394293", "medgen:1718899"], "information_content": 100.0}
{"id": "NCBIGene:28960", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCPS", "equivalent_identifiers": ["NCBIGene:28960", "ENSEMBL:ENSG00000110063", "HGNC:29812", "OMIM:610534", "UMLS:C1539228", "UniProtKB:A0A384MTI8", "UniProtKB:Q96C86", "PR:Q96C86", "ENSEMBL:ENSP00000263579", "ENSEMBL:ENSP00000263579.4"], "information_content": 92.8}
{"id": "UniProtKB:Q9HAT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialate O-acetylesterase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAT2-1", "PR:Q9HAT2-1", "ENSEMBL:ENSP00000263593", "ENSEMBL:ENSP00000263593.3"], "information_content": 100.0}
{"id": "MONDO:0014401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tall stature-scoliosis-macrodactyly of the great toes syndrome", "equivalent_identifiers": ["MONDO:0014401", "DOID:0070316", "OMIM:615923", "orphanet:329191", "UMLS:C4014690", "medgen:863127"], "information_content": 100.0}
{"id": "NCBIGene:3933", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCN1", "equivalent_identifiers": ["NCBIGene:3933", "ENSEMBL:ENSG00000160349", "HGNC:6525", "OMIM:151675", "UMLS:C1416805", "UniProtKB:P31025", "PR:P31025", "ENSEMBL:ENSP00000263598", "ENSEMBL:ENSP00000263598.2", "ENSEMBL:ENSP00000360846", "ENSEMBL:ENSP00000360846.3", "UMLS:C1506125", "MESH:C518443"], "information_content": 95.4}
{"id": "MONDO:0020729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive agammaglobulinemia 1", "equivalent_identifiers": ["MONDO:0020729", "DOID:0081136", "OMIM:601495", "UMLS:C3152144", "medgen:463494"], "information_content": 100.0}
{"id": "NCBIGene:56751", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BARHL1", "equivalent_identifiers": ["NCBIGene:56751", "ENSEMBL:ENSG00000125492", "HGNC:953", "OMIM:605211", "UMLS:C1412735", "UniProtKB:Q9BZE3", "PR:Q9BZE3", "ENSEMBL:ENSP00000263610", "ENSEMBL:ENSP00000263610.2", "UMLS:C1439137", "MESH:C412478"], "information_content": 95.4}
{"id": "NCBIGene:1820", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARID3A", "equivalent_identifiers": ["NCBIGene:1820", "ENSEMBL:ENSG00000116017", "HGNC:3031", "OMIM:603265", "UMLS:C1414153", "UniProtKB:Q99856", "PR:Q99856", "ENSEMBL:ENSP00000263620", "ENSEMBL:ENSP00000263620.2", "UMLS:C1308766", "MESH:C490798"], "information_content": 100.0}
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{"id": "UniProtKB:Q9C0D5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein TANC1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0D5-1", "PR:Q9C0D5-1", "ENSEMBL:ENSP00000263635", "ENSEMBL:ENSP00000263635.6"], "information_content": 100.0}
{"id": "UniProtKB:O60449-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphocyte antigen 75 isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:O60449-1", "PR:O60449-1", "ENSEMBL:ENSP00000263636", "ENSEMBL:ENSP00000263636.4"], "information_content": 95.4}
{"id": "NCBIGene:975", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD81", "equivalent_identifiers": ["NCBIGene:975", "ENSEMBL:ENSG00000110651", "HGNC:1701", "OMIM:186845", "UMLS:C1413240", "UniProtKB:A6NMH8", "ENSEMBL:ENSP00000370424", "ENSEMBL:ENSP00000370424.3", "UniProtKB:E9PJK1", "ENSEMBL:ENSP00000431780", "ENSEMBL:ENSP00000431780.1", "ENSEMBL:ENSP00000433178", "ENSEMBL:ENSP00000433178.2", "ENSEMBL:ENSP00000437242", "ENSEMBL:ENSP00000437242.1", "UniProtKB:H0YEE2", "ENSEMBL:ENSP00000435633", "ENSEMBL:ENSP00000435633.2", "UniProtKB:P60033", "PR:P60033", "ENSEMBL:ENSP00000263645", "ENSEMBL:ENSP00000263645.5", "UMLS:C1452163", "MESH:C554798"], "information_content": 90.9}
{"id": "UniProtKB:Q9H0X9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxysterol-binding protein-related protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0X9-1", "PR:Q9H0X9-1", "ENSEMBL:ENSP00000263650", "ENSEMBL:ENSP00000263650.7"], "information_content": 100.0}
{"id": "UniProtKB:Q96F85-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CB1 cannabinoid receptor-interacting protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96F85-1", "PR:Q96F85-1", "ENSEMBL:ENSP00000263655", "ENSEMBL:ENSP00000263655.3"], "information_content": 100.0}
{"id": "MONDO:0011031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 10", "equivalent_identifiers": ["MONDO:0011031", "DOID:0110542", "OMIM:601316", "UMLS:C1832476", "MESH:C563354", "medgen:321966"], "information_content": 100.0}
{"id": "NCBIGene:56902", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PNO1", "equivalent_identifiers": ["NCBIGene:56902", "ENSEMBL:ENSG00000115946", "HGNC:32790", "OMIM:618710", "UMLS:C1826636", "UniProtKB:Q9NRX1", "PR:Q9NRX1", "ENSEMBL:ENSP00000263657", "ENSEMBL:ENSP00000263657.2", "UMLS:C1566731", "MESH:C497714"], "information_content": 100.0}
{"id": "UniProtKB:Q53T94-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TATA box-binding protein-associated factor RNA polymerase I subunit B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53T94-1", "PR:Q53T94-1", "ENSEMBL:ENSP00000263663", "ENSEMBL:ENSP00000263663.4"], "information_content": 100.0}
{"id": "NCBIGene:5067", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNTN3", "equivalent_identifiers": ["NCBIGene:5067", "ENSEMBL:ENSG00000113805", "HGNC:2173", "OMIM:601325", "UMLS:C1413561", "UniProtKB:Q9P232", "PR:Q9P232", "ENSEMBL:ENSP00000263665", "ENSEMBL:ENSP00000263665.6", "UMLS:C1313324", "MESH:C484185"], "information_content": 88.2}
{"id": "UniProtKB:Q9UPQ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase PDZRN3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPQ7-1", "PR:Q9UPQ7-1", "ENSEMBL:ENSP00000263666", "ENSEMBL:ENSP00000263666.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6WN34-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chordin-like protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6WN34-2", "PR:Q6WN34-2", "ENSEMBL:ENSP00000263671", "ENSEMBL:ENSP00000263671.5"], "information_content": 100.0}
{"id": "NCBIGene:9789", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPCS2", "equivalent_identifiers": ["NCBIGene:9789", "ENSEMBL:ENSG00000118363", "HGNC:28962", "OMIM:619411", "UMLS:C1539817", "UniProtKB:Q15005", "PR:Q15005", "ENSEMBL:ENSP00000263672", "ENSEMBL:ENSP00000263672.6"], "information_content": 92.8}
{"id": "NCBIGene:9828", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGEF17", "equivalent_identifiers": ["NCBIGene:9828", "ENSEMBL:ENSG00000110237", "HGNC:21726", "OMIM:617043", "UMLS:C1427723", "UniProtKB:Q96PE2", "PR:Q96PE2", "ENSEMBL:ENSP00000263674", "ENSEMBL:ENSP00000263674.3", "UMLS:C3711658", "MESH:C577226"], "information_content": 95.4}
{"id": "UniProtKB:Q15054-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA polymerase delta subunit 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15054-1", "PR:Q15054-1", "ENSEMBL:ENSP00000263681", "ENSEMBL:ENSP00000263681.2"], "information_content": 100.0}
{"id": "NCBIGene:6403", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SELP", "equivalent_identifiers": ["NCBIGene:6403", "ENSEMBL:ENSG00000174175", "HGNC:10721", "OMIM:173610", "UMLS:C1335809", "UniProtKB:B2R785", "UniProtKB:P16109", "PR:P16109", "ENSEMBL:ENSP00000263686", "ENSEMBL:ENSP00000263686.5", "UMLS:C2742134", "MESH:C546937", "UniProtKB:Q5R341", "ENSEMBL:ENSP00000356760", "ENSEMBL:ENSP00000356760.1", "UniProtKB:Q6NUL9"], "information_content": 84.2}
{"id": "UniProtKB:Q96DI7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U5 small nuclear ribonucleoprotein 40 kDa protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DI7-1", "PR:Q96DI7-1", "ENSEMBL:ENSP00000263694", "ENSEMBL:ENSP00000263694.4"], "information_content": 100.0}
{"id": "MONDO:0012516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mandibulofacial dysostosis-microcephaly syndrome", "equivalent_identifiers": ["MONDO:0012516", "DOID:0080196", "OMIM:610536", "orphanet:79113", "UMLS:C1864652", "MESH:C537405", "SNOMEDCT:711543008", "medgen:355264"], "information_content": 100.0}
{"id": "NCBIGene:22826", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJC8", "equivalent_identifiers": ["NCBIGene:22826", "ENSEMBL:ENSG00000126698", "HGNC:15470", "UMLS:C1423511", "UniProtKB:O75937", "PR:O75937", "ENSEMBL:ENSP00000263697", "ENSEMBL:ENSP00000263697.4", "UMLS:C1530451", "MESH:C494653"], "information_content": 92.8}
{"id": "UniProtKB:Q9BV79-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BV79-1", "PR:Q9BV79-1", "ENSEMBL:ENSP00000263702", "ENSEMBL:ENSP00000263702.6"], "information_content": 100.0}
{"id": "MONDO:0010788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber hereditary optic neuropathy", "equivalent_identifiers": ["MONDO:0010788", "DOID:705", "OMIM:535000", "orphanet:104", "UMLS:C0917796", "MESH:D029242", "MEDDRA:10062951", "NCIT:C84808", "SNOMEDCT:58610003", "medgen:182973", "icd11.foundation:1018428959", "ICD10:H47.22", "HP:0001112"], "information_content": 92.8}
{"id": "NCBIGene:29842", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TFCP2L1", "equivalent_identifiers": ["NCBIGene:29842", "ENSEMBL:ENSG00000115112", "HGNC:17925", "OMIM:609785", "UMLS:C1425181", "UniProtKB:Q9NZI6", "PR:Q9NZI6", "ENSEMBL:ENSP00000263707", "ENSEMBL:ENSP00000263707.5", "UMLS:C1438759", "MESH:C428128"], "information_content": 95.4}
{"id": "NCBIGene:5775", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTPN4", "equivalent_identifiers": ["NCBIGene:5775", "ENSEMBL:ENSG00000088179", "HGNC:9656", "OMIM:176878", "UMLS:C1419106", "UniProtKB:P29074", "PR:P29074", "ENSEMBL:ENSP00000263708", "ENSEMBL:ENSP00000263708.2", "UMLS:C1869265", "MESH:C516658"], "information_content": 92.8}
{"id": "UniProtKB:Q7Z460-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CLIP-associating protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z460-1", "PR:Q7Z460-1", "ENSEMBL:ENSP00000263710", "ENSEMBL:ENSP00000263710.4"], "information_content": 100.0}
{"id": "MONDO:0005662", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "balantidiasis", "equivalent_identifiers": ["MONDO:0005662", "DOID:12386", "orphanet:1223", "EFO:0007163", "UMLS:C0004692", "MESH:D001447", "MEDDRA:10004080", "NCIT:C84583", "SNOMEDCT:105638003", "SNOMEDCT:57725006", "medgen:2540", "icd11.foundation:2090337975", "ICD10:A07.0", "ICD9:007.0"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCM4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "band 4.1-like protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCM4-1", "PR:Q9HCM4-1", "ENSEMBL:ENSP00000263713", "ENSEMBL:ENSP00000263713.5"], "information_content": 100.0}
{"id": "NCBIGene:89884", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LHX4", "equivalent_identifiers": ["NCBIGene:89884", "ENSEMBL:ENSG00000121454", "HGNC:21734", "OMIM:602146", "UMLS:C1427728", "UniProtKB:A0A0S2Z5S4", "UMLS:C1433432", "MESH:C486362", "UniProtKB:Q969G2", "PR:Q969G2", "ENSEMBL:ENSP00000263726", "ENSEMBL:ENSP00000263726.2", "UMLS:C3273822"], "information_content": 95.4}
{"id": "MONDO:0006740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "empty sella syndrome", "equivalent_identifiers": ["MONDO:0006740", "DOID:3642", "EFO:1000914", "UMLS:C0014008", "MESH:D004652", "MEDDRA:10014567", "NCIT:C84686", "SNOMEDCT:237722004", "medgen:41766", "icd11.foundation:49112094", "HP:6000483"], "information_content": 100.0}
{"id": "MONDO:0010358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypophosphatemic rickets, X-linked recessive", "equivalent_identifiers": ["MONDO:0010358", "DOID:0080353", "OMIM:300554", "UMLS:C1845168", "medgen:335115"], "information_content": 100.0}
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{"id": "NCBIGene:2034", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPAS1", "equivalent_identifiers": ["NCBIGene:2034", "ENSEMBL:ENSG00000116016", "HGNC:3374", "OMIM:603349", "UMLS:C1414421", "UniProtKB:B3KW07", "UniProtKB:Q99814", "PR:Q99814", "ENSEMBL:ENSP00000263734", "ENSEMBL:ENSP00000263734.3", "UMLS:C1436532"], "information_content": 89.4}
{"id": "NCBIGene:4072", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPCAM", "equivalent_identifiers": ["NCBIGene:4072", "ENSEMBL:ENSG00000119888", "HGNC:11529", "OMIM:185535", "UMLS:C0812305", "UniProtKB:P16422", "PR:P16422", "ENSEMBL:ENSP00000263735", "ENSEMBL:ENSP00000263735.4", "UMLS:C0903677", "MESH:C499379"], "information_content": 87.2}
{"id": "UniProtKB:Q8N5C6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "S1 RNA-binding domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5C6-1", "PR:Q8N5C6-1", "ENSEMBL:ENSP00000263736", "ENSEMBL:ENSP00000263736.4"], "information_content": 100.0}
{"id": "MONDO:0002135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic nerve disorder", "equivalent_identifiers": ["MONDO:0002135", "DOID:1891", "UMLS:C0029132", "MESH:D009901", "MEDDRA:10030932", "MEDDRA:10061322", "NCIT:C79698", "SNOMEDCT:77157004", "medgen:854546"], "information_content": 73.4}
{"id": "UniProtKB:Q5FBB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "shugoshin 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5FBB7-1", "PR:Q5FBB7-1", "ENSEMBL:ENSP00000263753", "ENSEMBL:ENSP00000263753.4", "ENSEMBL:ENSP00000414129", "ENSEMBL:ENSP00000414129.1"], "information_content": 100.0}
{"id": "NCBIGene:8850", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KAT2B", "equivalent_identifiers": ["NCBIGene:8850", "ENSEMBL:ENSG00000114166", "HGNC:8638", "OMIM:602303", "UMLS:C1366462", "UniProtKB:Q92831", "PR:Q92831", "ENSEMBL:ENSP00000263754", "ENSEMBL:ENSP00000263754.4", "UMLS:C3887789", "UMLS:C4507471", "MESH:C000620143"], "information_content": 100.0}
{"id": "UniProtKB:Q8N3X1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "formin-binding protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3X1-1", "PR:Q8N3X1-1", "ENSEMBL:ENSP00000263773", "ENSEMBL:ENSP00000263773.5", "ENSEMBL:ENSP00000494562", "ENSEMBL:ENSP00000494562.1"], "information_content": 100.0}
{"id": "UniProtKB:O75489-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75489-1", "PR:O75489-1", "ENSEMBL:ENSP00000263774", "ENSEMBL:ENSP00000263774.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96QU6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QU6-1", "PR:Q96QU6-1", "ENSEMBL:ENSP00000263776", "ENSEMBL:ENSP00000263776.8"], "information_content": 100.0}
{"id": "MONDO:0004971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenoid cystic carcinoma", "equivalent_identifiers": ["MONDO:0004971", "DOID:0080202", "EFO:0000231", "UMLS:C0010606", "MESH:D003528", "MEDDRA:10011729", "MEDDRA:10053231", "NCIT:C2970", "SNOMEDCT:11671000", "SNOMEDCT:302827006", "medgen:41382", "icd11.foundation:2127202862"], "information_content": 74.5}
{"id": "MONDO:0001315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurocirculatory asthenia", "equivalent_identifiers": ["MONDO:0001315", "DOID:11569", "UMLS:C0027821", "UMLS:C1535893", "MESH:D009449", "MESH:D054971", "MEDDRA:10007592", "MEDDRA:10007655", "MEDDRA:10014293", "MEDDRA:10029262", "MEDDRA:10029334", "MEDDRA:10042803", "MEDDRA:10058076", "MEDDRA:10063927", "MEDDRA:10086448", "NCIT:C84973", "SNOMEDCT:191962000", "SNOMEDCT:870368003", "medgen:283928", "ICD9:306.2"], "information_content": 95.4}
{"id": "MONDO:0013964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 11", "equivalent_identifiers": ["MONDO:0013964", "DOID:0111892", "OMIM:614900", "UMLS:C3554042", "NCIT:C176920", "medgen:766956"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQN3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "charged multivesicular body protein 2b isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQN3-1", "PR:Q9UQN3-1", "ENSEMBL:ENSP00000263780", "ENSEMBL:ENSP00000263780.4"], "information_content": 100.0}
{"id": "MONDO:0002905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mutism", "equivalent_identifiers": ["MONDO:0002905", "DOID:4189", "UMLS:C0026884", "MESH:D009155", "MEDDRA:10028403", "SNOMEDCT:88052002", "medgen:6476", "icd11.foundation:1275861519", "HP:0002300"], "information_content": 90.9}
{"id": "UniProtKB:Q9P2K8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eIF-2-alpha kinase GCN2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2K8-1", "PR:Q9P2K8-1", "ENSEMBL:ENSP00000263791", "ENSEMBL:ENSP00000263791.5"], "information_content": 100.0}
{"id": "NCBIGene:79968", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR76", "equivalent_identifiers": ["NCBIGene:79968", "ENSEMBL:ENSG00000092470", "HGNC:25773", "OMIM:620302", "UMLS:C1823840", "UniProtKB:A0A0C4DFX7", "ENSEMBL:ENSP00000370645", "ENSEMBL:ENSP00000370645.2", "UMLS:C4279272", "MESH:C000606100", "UniProtKB:Q9H967", "PR:Q9H967", "ENSEMBL:ENSP00000263795", "ENSEMBL:ENSP00000263795.6"], "information_content": 92.8}
{"id": "NCBIGene:7301", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TYRO3", "equivalent_identifiers": ["NCBIGene:7301", "ENSEMBL:ENSG00000092445", "HGNC:12446", "OMIM:600341", "UMLS:C1367457", "UniProtKB:H0YNK6", "ENSEMBL:ENSP00000454050", "ENSEMBL:ENSP00000454050.1", "UniProtKB:Q06418", "PR:Q06418", "ENSEMBL:ENSP00000263798", "ENSEMBL:ENSP00000263798.3", "UMLS:C0252032", "MESH:C084944"], "information_content": 89.4}
{"id": "UniProtKB:P29376-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukocyte tyrosine kinase receptor isoform hLambda P2 (human)", "equivalent_identifiers": ["UniProtKB:P29376-1", "PR:P29376-1", "ENSEMBL:ENSP00000263800", "ENSEMBL:ENSP00000263800.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2Y7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 106 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2Y7-1", "PR:Q9H2Y7-1", "ENSEMBL:ENSP00000263805", "ENSEMBL:ENSP00000263805.4"], "information_content": 100.0}
{"id": "NCBIGene:5007", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OSBP", "equivalent_identifiers": ["NCBIGene:5007", "ENSEMBL:ENSG00000110048", "HGNC:8503", "OMIM:167040", "UMLS:C1418188", "UniProtKB:P22059", "PR:P22059", "ENSEMBL:ENSP00000263847", "ENSEMBL:ENSP00000263847.1", "UMLS:C1740209", "MESH:C000730251"], "information_content": 90.9}
{"id": "UniProtKB:P13232-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13232-1", "PR:P13232-1", "ENSEMBL:ENSP00000263851", "ENSEMBL:ENSP00000263851.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3E7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "charged multivesicular body protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3E7-1", "PR:Q9Y3E7-1", "ENSEMBL:ENSP00000263856", "ENSEMBL:ENSP00000263856.4"], "information_content": 100.0}
{"id": "NCBIGene:25885", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR1A", "equivalent_identifiers": ["NCBIGene:25885", "ENSEMBL:ENSG00000068654", "HGNC:17264", "OMIM:616404", "UMLS:C1424858", "UniProtKB:O95602", "PR:O95602", "ENSEMBL:ENSP00000263857", "ENSEMBL:ENSP00000263857.6", "UMLS:C5575359"], "information_content": 84.2}
{"id": "MONDO:0033631", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 51", "equivalent_identifiers": ["MONDO:0033631", "DOID:0112137", "OMIM:619057", "UMLS:C5436703", "medgen:1757992"], "information_content": 100.0}
{"id": "NCBIGene:8673", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VAMP8", "equivalent_identifiers": ["NCBIGene:8673", "ENSEMBL:ENSG00000118640", "HGNC:12647", "OMIM:603177", "UMLS:C1421423", "UniProtKB:B8ZZT4", "ENSEMBL:ENSP00000387094", "ENSEMBL:ENSP00000387094.1", "UniProtKB:Q9BV40", "PR:Q9BV40", "ENSEMBL:ENSP00000263864", "ENSEMBL:ENSP00000263864.5", "UMLS:C1449192", "MESH:C112938"], "information_content": 92.8}
{"id": "UniProtKB:P40121-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "macrophage-capping protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P40121-1", "PR:P40121-1", "ENSEMBL:ENSP00000263867", "ENSEMBL:ENSP00000263867.4", "ENSEMBL:ENSP00000386315", "ENSEMBL:ENSP00000386315.1", "ENSEMBL:ENSP00000386965", "ENSEMBL:ENSP00000386965.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVH8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase kinase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVH8-1", "PR:Q8IVH8-1", "ENSEMBL:ENSP00000263881", "ENSEMBL:ENSP00000263881.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZ43-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vesicle transport protein USE1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZ43-1", "PR:Q9NZ43-1", "ENSEMBL:ENSP00000263897", "ENSEMBL:ENSP00000263897.4"], "information_content": 100.0}
{"id": "MONDO:0009266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gaucher disease type II", "equivalent_identifiers": ["MONDO:0009266", "DOID:0110958", "OMIM:230900", "orphanet:77260", "UMLS:C0268250", "MEDDRA:10075698", "SNOMEDCT:12246008", "medgen:78652"], "information_content": 100.0}
{"id": "MONDO:0004345", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood malignant schwannoma", "equivalent_identifiers": ["MONDO:0004345", "DOID:7732", "UMLS:C0279987", "NCIT:C8094", "medgen:83582"], "information_content": 100.0}
{"id": "UniProtKB:O75886-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal transducing adapter molecule 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75886-1", "PR:O75886-1", "ENSEMBL:ENSP00000263904", "ENSEMBL:ENSP00000263904.4"], "information_content": 100.0}
{"id": "UniProtKB:Q14449-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "growth factor receptor-bound protein 14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14449-1", "PR:Q14449-1", "ENSEMBL:ENSP00000263915", "ENSEMBL:ENSP00000263915.3"], "information_content": 100.0}
{"id": "UniProtKB:O43815-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "striatin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43815-1", "PR:O43815-1", "ENSEMBL:ENSP00000263918", "ENSEMBL:ENSP00000263918.4"], "information_content": 100.0}
{"id": "NCBIGene:26511", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHIC2", "equivalent_identifiers": ["NCBIGene:26511", "ENSEMBL:ENSG00000109220", "HGNC:1935", "OMIM:604332", "UMLS:C1413390", "UniProtKB:Q9UKJ5", "PR:Q9UKJ5", "ENSEMBL:ENSP00000263921", "ENSEMBL:ENSP00000263921.3", "UMLS:C1317912", "MESH:C121401"], "information_content": 95.4}
{"id": "MONDO:0006746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endomyocardial fibrosis", "equivalent_identifiers": ["MONDO:0006746", "DOID:12932", "EFO:1000921", "UMLS:C0014183", "UMLS:C0553980", "UMLS:C1959600", "MESH:D004719", "MEDDRA:10014664", "MEDDRA:10014800", "MEDDRA:10016645", "MEDDRA:10029891", "NCIT:C34585", "SNOMEDCT:398716006", "SNOMEDCT:398754006", "medgen:107513", "icd11.foundation:365224859", "ICD9:425.0", "HP:0006685"], "information_content": 95.4}
{"id": "UniProtKB:P35968-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vascular endothelial growth factor receptor 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35968-1", "PR:P35968-1", "ENSEMBL:ENSP00000263923", "ENSEMBL:ENSP00000263923.4"], "information_content": 90.9}
{"id": "UniProtKB:Q8TBB1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase LNX isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBB1-1", "PR:Q8TBB1-1", "ENSEMBL:ENSP00000263925", "ENSEMBL:ENSP00000263925.7"], "information_content": 100.0}
{"id": "UniProtKB:P28908-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P28908-1", "PR:P28908-1", "ENSEMBL:ENSP00000263932", "ENSEMBL:ENSP00000263932.2"], "information_content": 100.0}
{"id": "MONDO:0005744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "yolk sac tumor", "equivalent_identifiers": ["MONDO:0005744", "DOID:1911", "orphanet:876", "EFO:0007252", "UMLS:C0014145", "MESH:D018240", "MEDDRA:10014718", "MEDDRA:10048251", "MEDDRA:10062419", "NCIT:C3011", "SNOMEDCT:404081005", "SNOMEDCT:74409009", "medgen:41782"], "information_content": 75.3}
{"id": "MONDO:0009975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reticulosarcoma", "equivalent_identifiers": ["MONDO:0009975", "DOID:8538", "OMIM:267730", "orphanet:86900", "EFO:0005287", "UMLS:C0024302", "MEDDRA:10038804", "NCIT:C27824", "SNOMEDCT:189982000", "SNOMEDCT:373168002", "medgen:44224", "ICD9:200.0"], "information_content": 95.4}
{"id": "MONDO:0005564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "embryonal neoplasm", "equivalent_identifiers": ["MONDO:0005564", "DOID:688", "EFO:0005784", "UMLS:C0027654", "NCIT:C3264", "medgen:45034", "HP:0002898"], "information_content": 58.7}
{"id": "MONDO:0003001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seminoma", "equivalent_identifiers": ["MONDO:0003001", "DOID:4440", "UMLS:C0036631", "MESH:D018239", "MEDDRA:10039956", "NCIT:C9309", "SNOMEDCT:1162765005", "SNOMEDCT:255107005", "SNOMEDCT:36741007", "SNOMEDCT:443675005", "medgen:11371", "HP:0100617"], "information_content": 81.7}
{"id": "MONDO:0019479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histiocytic sarcoma", "equivalent_identifiers": ["MONDO:0019479", "DOID:0080915", "orphanet:86896", "UMLS:C0334663", "MESH:D054747", "MEDDRA:10076876", "NCIT:C27349", "NCIT:C35382", "SNOMEDCT:109988003", "SNOMEDCT:128813000", "medgen:137793", "icd11.foundation:1925254893", "icd11.foundation:911785965"], "information_content": 95.4}
{"id": "MONDO:0005207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choriocarcinoma", "equivalent_identifiers": ["MONDO:0005207", "DOID:3594", "EFO:0002893", "UMLS:C0008497", "MESH:D002822", "MEDDRA:10008757", "MEDDRA:10008759", "NCIT:C2948", "SNOMEDCT:1156971005", "SNOMEDCT:188188009", "SNOMEDCT:44769000", "medgen:40278", "HP:0100768"], "information_content": 78.0}
{"id": "MONDO:0002598", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "germinoma", "equivalent_identifiers": ["MONDO:0002598", "DOID:3304", "UMLS:C0206660", "MESH:D018237", "MEDDRA:10018207", "SNOMEDCT:28307001", "medgen:64626", "HP:0100620"], "information_content": 86.3}
{"id": "MONDO:0002724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mast cell neoplasm", "equivalent_identifiers": ["MONDO:0002724", "DOID:3664", "EFO:0009000", "UMLS:C0334664", "NCIT:C9295", "SNOMEDCT:414653009", "medgen:83178"], "information_content": 77.3}
{"id": "MONDO:0002847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skeletal muscle cancer", "equivalent_identifiers": ["MONDO:0002847", "DOID:4043", "UMLS:C1334619", "NCIT:C6516", "medgen:233669"], "information_content": 67.4}
{"id": "MONDO:0005813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interdigitating dendritic cell sarcoma", "equivalent_identifiers": ["MONDO:0005813", "DOID:7848", "EFO:0007329", "UMLS:C1260326", "MESH:D054739", "NCIT:C9282", "SNOMEDCT:128815007", "SNOMEDCT:715664005", "medgen:266040", "icd11.foundation:2024362257", "icd11.foundation:214592620"], "information_content": 100.0}
{"id": "MONDO:0003562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rete testis neoplasm", "equivalent_identifiers": ["MONDO:0003562", "DOID:5639", "UMLS:C1514912", "NCIT:C39955", "medgen:308162"], "information_content": 92.8}
{"id": "MONDO:0015531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-Langerhans cell histiocytosis", "equivalent_identifiers": ["MONDO:0015531", "DOID:4330", "orphanet:157987", "UMLS:C0019624", "MESH:D015616", "SNOMEDCT:127069007", "medgen:9265"], "information_content": 77.3}
{"id": "MONDO:0858974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast implant illness", "equivalent_identifiers": ["MONDO:0858974", "DOID:0081323"], "information_content": 100.0}
{"id": "MONDO:0009692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myelofibrosis", "equivalent_identifiers": ["MONDO:0009692", "DOID:4971", "OMIM:254450", "orphanet:824", "EFO:0002430", "UMLS:C0001815", "UMLS:C0948968", "UMLS:C2355576", "MESH:D055728", "MEDDRA:10053134", "MEDDRA:10077161", "NCIT:C2862", "SNOMEDCT:128843003", "SNOMEDCT:307651005", "medgen:7929", "icd11.foundation:1407285327", "icd11.foundation:336704235", "ICD10:D47.4", "ICD10:D75.81", "ICD9:238.76", "ICD9:289.83"], "information_content": 86.3}
{"id": "UniProtKB:O60333-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF1B isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:O60333-2", "PR:O60333-2", "ENSEMBL:ENSP00000263934", "ENSEMBL:ENSP00000263934.6"], "information_content": 100.0}
{"id": "UniProtKB:Q13835-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plakophilin-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13835-1", "PR:Q13835-1", "ENSEMBL:ENSP00000263946", "ENSEMBL:ENSP00000263946.3", "ENSEMBL:ENSP00000295597", "ENSEMBL:ENSP00000295597.3"], "information_content": 100.0}
{"id": "MONDO:0007805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 2", "equivalent_identifiers": ["MONDO:0007805", "DOID:0110699", "OMIM:146520", "UMLS:C1840299", "MESH:C564143", "medgen:374435"], "information_content": 100.0}
{"id": "NCBIGene:9262", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STK17B", "equivalent_identifiers": ["NCBIGene:9262", "ENSEMBL:ENSG00000081320", "HGNC:11396", "OMIM:604727", "UMLS:C1420469", "UniProtKB:O94768", "PR:O94768", "ENSEMBL:ENSP00000263955", "ENSEMBL:ENSP00000263955.4", "ENSEMBL:ENSP00000386853", "ENSEMBL:ENSP00000386853.1", "ENSEMBL:ENSP00000399755", "ENSEMBL:ENSP00000399755.2", "ENSEMBL:ENSP00000413289", "ENSEMBL:ENSP00000413289.2", "ENSEMBL:ENSP00000519687", "ENSEMBL:ENSP00000519687.1", "UMLS:C1431551", "MESH:C115489", "UniProtKB:Q53QE7"], "information_content": 88.2}
{"id": "UniProtKB:Q9Y5Q9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription factor 3C polypeptide 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5Q9-1", "PR:Q9Y5Q9-1", "ENSEMBL:ENSP00000263956", "ENSEMBL:ENSP00000263956.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H8M1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coenzyme Q-binding protein COQ10 homolog B, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8M1-1", "PR:Q9H8M1-1", "ENSEMBL:ENSP00000263960", "ENSEMBL:ENSP00000263960.2"], "information_content": 100.0}
{"id": "UniProtKB:Q92995-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92995-1", "PR:Q92995-1", "ENSEMBL:ENSP00000263966", "ENSEMBL:ENSP00000263966.3"], "information_content": 100.0}
{"id": "NCBIGene:5290", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIK3CA", "equivalent_identifiers": ["NCBIGene:5290", "ENSEMBL:ENSG00000121879", "HGNC:8975", "OMIM:171834", "UMLS:C1335212", "UniProtKB:P42336", "PR:P42336", "ENSEMBL:ENSP00000263967", "ENSEMBL:ENSP00000263967.3", "UMLS:C1451005", "MESH:C484760"], "information_content": 78.3}
{"id": "UniProtKB:Q16514-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription initiation factor TFIID subunit 12 isoform hTAFII20 (human)", "equivalent_identifiers": ["UniProtKB:Q16514-1", "PR:Q16514-1", "ENSEMBL:ENSP00000263974", "ENSEMBL:ENSP00000263974.4", "ENSEMBL:ENSP00000362930", "ENSEMBL:ENSP00000362930.4", "ENSEMBL:ENSP00000509051", "ENSEMBL:ENSP00000509051.1", "ENSEMBL:ENSP00000509153", "ENSEMBL:ENSP00000509153.1", "ENSEMBL:ENSP00000509370", "ENSEMBL:ENSP00000509370.1"], "information_content": 100.0}
{"id": "UniProtKB:P19634-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/hydrogen exchanger 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P19634-1", "PR:P19634-1", "ENSEMBL:ENSP00000263980", "ENSEMBL:ENSP00000263980.3"], "information_content": 100.0}
{"id": "NCBIGene:5188", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GATB", "equivalent_identifiers": ["NCBIGene:5188", "ENSEMBL:ENSG00000059691", "HGNC:8849", "OMIM:603645", "UMLS:C1418468", "UniProtKB:O75879", "PR:O75879", "ENSEMBL:ENSP00000263985", "ENSEMBL:ENSP00000263985.6", "UMLS:C1313592", "MESH:C484603"], "information_content": 95.4}
{"id": "MONDO:0001137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Murray valley encephalitis", "equivalent_identifiers": ["MONDO:0001137", "DOID:10842", "UMLS:C0153066", "MEDDRA:10003804", "MEDDRA:10014583", "MEDDRA:10053981", "SNOMEDCT:66454007", "medgen:509134", "icd11.foundation:1040970454", "ICD10:A83.4", "ICD9:062.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDI1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EH domain-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDI1-1", "PR:Q8NDI1-1", "ENSEMBL:ENSP00000263991", "ENSEMBL:ENSP00000263991.5"], "information_content": 100.0}
{"id": "NCBIGene:84138", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC7A6OS", "equivalent_identifiers": ["NCBIGene:84138", "ENSEMBL:ENSG00000103061", "HGNC:25807", "OMIM:619192", "UMLS:C1822737", "UniProtKB:Q96CW6", "PR:Q96CW6", "ENSEMBL:ENSP00000263997", "ENSEMBL:ENSP00000263997.5", "UMLS:C2973468", "MESH:C551898"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBR5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chemokine-like factor isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBR5-1", "PR:Q9UBR5-1", "ENSEMBL:ENSP00000264001", "ENSEMBL:ENSP00000264001.5"], "information_content": 100.0}
{"id": "NCBIGene:3931", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCAT", "equivalent_identifiers": ["NCBIGene:3931", "ENSEMBL:ENSG00000213398", "HGNC:6522", "OMIM:606967", "UMLS:C1416804", "UniProtKB:A0A140VK24", "UniProtKB:P04180", "PR:P04180", "ENSEMBL:ENSP00000264005", "ENSEMBL:ENSP00000264005.5", "UMLS:C4743186", "MESH:C000628451"], "information_content": 95.4}
{"id": "MONDO:0001859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "algoneurodystrophy", "equivalent_identifiers": ["MONDO:0001859", "DOID:14022", "UMLS:C0205930", "MEDDRA:10001665", "medgen:526108", "ICD10:M89.0", "ICD9:733.7"], "information_content": 100.0}
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{"id": "MONDO:0003037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis", "equivalent_identifiers": ["MONDO:0003037", "DOID:4535", "OMIM.PS:605389", "UMLS:C0020678", "UMLS:C0232411", "UMLS:C1837770", "UMLS:C1860844", "UMLS:C4721530", "UMLS:C5551005", "MESH:D007039", "MEDDRA:10021126", "MEDDRA:10053822", "NCIT:C34720", "SNOMEDCT:1162675003", "SNOMEDCT:134006", "SNOMEDCT:53602002", "SNOMEDCT:56558005", "medgen:6993", "HP:0008070"], "information_content": 79.9}
{"id": "UniProtKB:Q9NQC8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 46 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQC8-2", "PR:Q9NQC8-2", "ENSEMBL:ENSP00000264020", "ENSEMBL:ENSP00000264020.2"], "information_content": 100.0}
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{"id": "NCBIGene:6309", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SC5D", "equivalent_identifiers": ["NCBIGene:6309", "ENSEMBL:ENSG00000109929", "HGNC:10547", "OMIM:602286", "UMLS:C1419827", "UniProtKB:O75845", "PR:O75845", "ENSEMBL:ENSP00000264027", "ENSEMBL:ENSP00000264027.4", "ENSEMBL:ENSP00000376539", "ENSEMBL:ENSP00000376539.2"], "information_content": 95.4}
{"id": "UniProtKB:P48444-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coatomer subunit delta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48444-1", "PR:P48444-1", "ENSEMBL:ENSP00000264028", "ENSEMBL:ENSP00000264028.4"], "information_content": 100.0}
{"id": "UniProtKB:O43280-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trehalase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43280-1", "PR:O43280-1", "ENSEMBL:ENSP00000264029", "ENSEMBL:ENSP00000264029.5"], "information_content": 100.0}
{"id": "MONDO:0004905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal disaccharidase deficiency", "equivalent_identifiers": ["MONDO:0004905", "DOID:9868", "EFO:1000060", "UMLS:C0021830", "UMLS:C0699848", "MEDDRA:10022644", "MEDDRA:10078209", "NCIT:C34731", "SNOMEDCT:22169002", "SNOMEDCT:267427000", "medgen:675093", "ICD9:271.3"], "information_content": 86.3}
{"id": "MONDO:0009115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital lactase deficiency", "equivalent_identifiers": ["MONDO:0009115", "DOID:0111646", "OMIM:223000", "orphanet:53690", "UMLS:C0268179", "MESH:C562600", "MEDDRA:10086148", "SNOMEDCT:5388008", "medgen:120617", "icd11.foundation:2109252471", "ICD10:E73.0"], "information_content": 100.0}
{"id": "NCBIGene:7379", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UPK2", "equivalent_identifiers": ["NCBIGene:7379", "ENSEMBL:ENSG00000110375", "HGNC:12579", "OMIM:611558", "UMLS:C1421366", "UniProtKB:O00526", "PR:O00526", "ENSEMBL:ENSP00000264031", "ENSEMBL:ENSP00000264031.2", "UMLS:C1568105", "MESH:C554658"], "information_content": 100.0}
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{"id": "MONDO:0003319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scrotum neoplasm", "equivalent_identifiers": ["MONDO:0003319", "DOID:518", "UMLS:C0341790", "MEDDRA:10039754", "NCIT:C4380", "SNOMEDCT:126905005", "medgen:83328", "ICD10:C63.2", "ICD9:187.7", "HP:0100849"], "information_content": 83.6}
{"id": "NCBIGene:867", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CBL", "equivalent_identifiers": ["NCBIGene:867", "ENSEMBL:ENSG00000110395", "HGNC:1541", "OMIM:165360", "UMLS:C0812242", "UniProtKB:P22681", "PR:P22681", "ENSEMBL:ENSP00000264033", "ENSEMBL:ENSP00000264033.3", "UMLS:C1429614", "MESH:C067419"], "information_content": 75.7}
{"id": "UniProtKB:P43121-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell surface glycoprotein MUC18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43121-1", "PR:P43121-1", "ENSEMBL:ENSP00000264036", "ENSEMBL:ENSP00000264036.4"], "information_content": 100.0}
{"id": "UniProtKB:P35052-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glypican-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35052-1", "PR:P35052-1", "ENSEMBL:ENSP00000264039", "ENSEMBL:ENSP00000264039.2"], "information_content": 100.0}
{"id": "UniProtKB:O94887-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94887-1", "PR:O94887-1", "ENSEMBL:ENSP00000264042", "ENSEMBL:ENSP00000264042.3"], "information_content": 100.0}
{"id": "MONDO:0005712", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital nystagmus", "equivalent_identifiers": ["MONDO:0005712", "DOID:9649", "OMIM.PS:310700", "EFO:0007217", "UMLS:C0700501", "MESH:D020417", "MEDDRA:10010562", "MEDDRA:10029867", "SNOMEDCT:64635004", "medgen:195995", "icd11.foundation:1626567380", "ICD10:H55.01", "ICD9:379.51", "HP:0006934"], "information_content": 84.2}
{"id": "MONDO:0018852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "achromatopsia", "equivalent_identifiers": ["MONDO:0018852", "DOID:13911", "orphanet:49382", "UMLS:C0152200", "UMLS:C0302129", "MEDDRA:10000454", "MEDDRA:10005175", "NCIT:C84528", "SNOMEDCT:102450007", "medgen:57751", "ICD10:H53.51", "ICD9:368.54", "HP:0011516"], "information_content": 87.2}
{"id": "NCBIGene:60482", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC5A7", "equivalent_identifiers": ["NCBIGene:60482", "ENSEMBL:ENSG00000115665", "HGNC:14025", "OMIM:608761", "UMLS:C1422359", "UniProtKB:B2RCU2", "UMLS:C1722193", "MESH:C510731", "UniProtKB:B4DUU7", "UniProtKB:Q2T9H3", "UniProtKB:Q9GZV3", "PR:Q9GZV3", "ENSEMBL:ENSP00000264047", "ENSEMBL:ENSP00000264047.2", "ENSEMBL:ENSP00000387346", "ENSEMBL:ENSP00000387346.1"], "information_content": 95.4}
{"id": "UniProtKB:Q8N5V2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephexin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5V2-1", "PR:Q8N5V2-1", "ENSEMBL:ENSP00000264051", "ENSEMBL:ENSP00000264051.3"], "information_content": 100.0}
{"id": "UniProtKB:Q16760-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diacylglycerol kinase delta isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16760-1", "PR:Q16760-1", "ENSEMBL:ENSP00000264057", "ENSEMBL:ENSP00000264057.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EF-hand domain-containing protein D1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUP0-1", "PR:Q9BUP0-1", "ENSEMBL:ENSP00000264059", "ENSEMBL:ENSP00000264059.3"], "information_content": 100.0}
{"id": "MONDO:0010588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exudative vitreoretinopathy 2, X-linked", "equivalent_identifiers": ["MONDO:0010588", "DOID:0111413", "OMIM:305390", "UMLS:C1844579", "MESH:C564428", "medgen:337030"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXB1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily C member 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXB1-1", "PR:Q8IXB1-1", "ENSEMBL:ENSP00000264065", "ENSEMBL:ENSP00000264065.6"], "information_content": 100.0}
{"id": "NCBIGene:10382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBB4A", "equivalent_identifiers": ["NCBIGene:10382", "ENSEMBL:ENSG00000104833", "HGNC:20774", "OMIM:602662", "UMLS:C1540127", "UniProtKB:M0QZL7", "ENSEMBL:ENSP00000470627", "ENSEMBL:ENSP00000470627.2", "UniProtKB:M0R1I1", "ENSEMBL:ENSP00000471880", "ENSEMBL:ENSP00000471880.2", "UniProtKB:M0R278", "ENSEMBL:ENSP00000472375", "ENSEMBL:ENSP00000472375.2", "UniProtKB:P04350", "PR:P04350", "ENSEMBL:ENSP00000264071", "ENSEMBL:ENSP00000264071.1", "UMLS:C3658898", "MESH:C582076"], "information_content": 84.8}
{"id": "NCBIGene:2208", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FCER2", "equivalent_identifiers": ["NCBIGene:2208", "ENSEMBL:ENSG00000104921", "HGNC:3612", "OMIM:151445", "UMLS:C1414549", "UniProtKB:K3W4U1", "ENSEMBL:ENSP00000353178", "ENSEMBL:ENSP00000353178.4", "UniProtKB:P06734", "PR:P06734", "ENSEMBL:ENSP00000264072", "ENSEMBL:ENSP00000264072.6", "ENSEMBL:ENSP00000471974", "ENSEMBL:ENSP00000471974.1", "UMLS:C2744538", "MESH:C546930"], "information_content": 84.8}
{"id": "MONDO:0002211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "B cell deficiency", "equivalent_identifiers": ["MONDO:0002211", "DOID:2115", "UMLS:C0154276", "UMLS:C0522274", "UMLS:C1855067", "MEDDRA:10012134", "MEDDRA:10020464", "NCIT:C4799", "SNOMEDCT:103075007", "medgen:340780", "ICD9:279.03", "HP:0010976"], "information_content": 71.0}
{"id": "NCBIGene:57192", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MCOLN1", "equivalent_identifiers": ["NCBIGene:57192", "ENSEMBL:ENSG00000090674", "HGNC:13356", "OMIM:605248", "UMLS:C1421947", "UniProtKB:Q9GZU1", "PR:Q9GZU1", "ENSEMBL:ENSP00000264079", "ENSEMBL:ENSP00000264079.5", "UMLS:C1431987", "MESH:C416674"], "information_content": 92.8}
{"id": "NCBIGene:56927", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR108", "equivalent_identifiers": ["NCBIGene:56927", "ENSEMBL:ENSG00000125734", "HGNC:17829", "OMIM:618491", "UMLS:C1425110", "UniProtKB:G5E9L6", "ENSEMBL:ENSP00000401284", "ENSEMBL:ENSP00000401284.2", "UniProtKB:Q9NPR9", "PR:Q9NPR9", "ENSEMBL:ENSP00000264080", "ENSEMBL:ENSP00000264080.5"], "information_content": 92.8}
{"id": "UniProtKB:Q16854-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deoxyguanosine kinase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16854-1", "PR:Q16854-1", "ENSEMBL:ENSP00000264093", "ENSEMBL:ENSP00000264093.4"], "information_content": 100.0}
{"id": "UniProtKB:P58215-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysyl oxidase homolog 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P58215-1", "PR:P58215-1", "ENSEMBL:ENSP00000264094", "ENSEMBL:ENSP00000264094.3"], "information_content": 100.0}
{"id": "MONDO:0007949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marshall syndrome", "equivalent_identifiers": ["MONDO:0007949", "DOID:0111510", "OMIM:154780", "orphanet:560", "UMLS:C0265235", "MESH:C536025", "NCIT:C128115", "SNOMEDCT:33410002", "medgen:82694", "icd11.foundation:1401051186"], "information_content": 100.0}
{"id": "MONDO:0009104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Donnai-Barrow syndrome", "equivalent_identifiers": ["MONDO:0009104", "DOID:0090144", "OMIM:222448", "orphanet:2143", "UMLS:C1857277", "MESH:C536390", "SNOMEDCT:702418009", "medgen:347406"], "information_content": 100.0}
{"id": "UniProtKB:O14929-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone acetyltransferase type B catalytic subunit isoform A (human)", "equivalent_identifiers": ["UniProtKB:O14929-1", "PR:O14929-1", "ENSEMBL:ENSP00000264108", "ENSEMBL:ENSP00000264108.4"], "information_content": 100.0}
{"id": "UniProtKB:P15336-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic AMP-dependent transcription factor ATF-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P15336-1", "PR:P15336-1", "ENSEMBL:ENSP00000264110", "ENSEMBL:ENSP00000264110.2", "ENSEMBL:ENSP00000376327", "ENSEMBL:ENSP00000376327.1"], "information_content": 95.4}
{"id": "UniProtKB:Q13753-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "laminin subunit gamma-2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q13753-1", "PR:Q13753-1", "ENSEMBL:ENSP00000264144", "ENSEMBL:ENSP00000264144.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H4B0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4B0-1", "PR:Q9H4B0-1", "ENSEMBL:ENSP00000264151", "ENSEMBL:ENSP00000264151.5", "ENSEMBL:ENSP00000429697", "ENSEMBL:ENSP00000429697.1"], "information_content": 100.0}
{"id": "NCBIGene:4175", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MCM6", "equivalent_identifiers": ["NCBIGene:4175", "ENSEMBL:ENSG00000076003", "HGNC:6949", "OMIM:601806", "UMLS:C1334493", "UniProtKB:Q14566", "PR:Q14566", "ENSEMBL:ENSP00000264156", "ENSEMBL:ENSP00000264156.2", "UMLS:C1333240", "MESH:C103258"], "information_content": 84.8}
{"id": "UniProtKB:O60583-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-T2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60583-1", "PR:O60583-1", "ENSEMBL:ENSP00000264157", "ENSEMBL:ENSP00000264157.5"], "information_content": 100.0}
{"id": "UniProtKB:Q5FWF4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA annealing helicase and endonuclease ZRANB3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5FWF4-1", "PR:Q5FWF4-1", "ENSEMBL:ENSP00000264159", "ENSEMBL:ENSP00000264159.6"], "information_content": 100.0}
{"id": "UniProtKB:P14868-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aspartate--tRNA ligase, cytoplasmic isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P14868-1", "PR:P14868-1", "ENSEMBL:ENSP00000264161", "ENSEMBL:ENSP00000264161.4"], "information_content": 100.0}
{"id": "NCBIGene:3938", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCT", "equivalent_identifiers": ["NCBIGene:3938", "ENSEMBL:ENSG00000115850", "HGNC:6530", "OMIM:603202", "UMLS:C1416808", "UniProtKB:P09848", "PR:P09848", "ENSEMBL:ENSP00000264162", "ENSEMBL:ENSP00000264162.2"], "information_content": 100.0}
{"id": "NCBIGene:8540", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGPS", "equivalent_identifiers": ["NCBIGene:8540", "ENSEMBL:ENSG00000018510", "HGNC:327", "OMIM:603051", "UMLS:C1412284", "UniProtKB:B7Z3Q4", "ENSEMBL:ENSP00000504957", "ENSEMBL:ENSP00000504957.1", "ENSEMBL:ENSP00000505333", "ENSEMBL:ENSP00000505333.1", "ENSEMBL:ENSP00000505342", "ENSEMBL:ENSP00000505342.1", "ENSEMBL:ENSP00000506484", "ENSEMBL:ENSP00000506484.1", "UniProtKB:O00116", "PR:O00116", "ENSEMBL:ENSP00000264167", "ENSEMBL:ENSP00000264167.4"], "information_content": 86.3}
{"id": "UniProtKB:Q16719-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kynureninase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16719-1", "PR:Q16719-1", "ENSEMBL:ENSP00000264170", "ENSEMBL:ENSP00000264170.4", "ENSEMBL:ENSP00000386731", "ENSEMBL:ENSP00000386731.1"], "information_content": 100.0}
{"id": "UniProtKB:Q4LE39-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AT-rich interactive domain-containing protein 4B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4LE39-1", "PR:Q4LE39-1", "ENSEMBL:ENSP00000264183", "ENSEMBL:ENSP00000264183.3", "ENSEMBL:ENSP00000355562", "ENSEMBL:ENSP00000355562.2"], "information_content": 100.0}
{"id": "UniProtKB:P14543-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nidogen-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P14543-1", "PR:P14543-1", "ENSEMBL:ENSP00000264187", "ENSEMBL:ENSP00000264187.6"], "information_content": 100.0}
{"id": "NCBIGene:79594", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUL1", "equivalent_identifiers": ["NCBIGene:79594", "ENSEMBL:ENSG00000090432", "HGNC:25762", "OMIM:612037", "UMLS:C1823782", "UniProtKB:Q969V5", "PR:Q969V5", "ENSEMBL:ENSP00000264198", "ENSEMBL:ENSP00000264198.3", "UMLS:C2353965", "MESH:C529067"], "information_content": 90.9}
{"id": "NCBIGene:10874", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NMU", "equivalent_identifiers": ["NCBIGene:10874", "ENSEMBL:ENSG00000109255", "HGNC:7859", "OMIM:605103", "UMLS:C1334887", "UniProtKB:A0A0B4J202", "ENSEMBL:ENSP00000422399", "ENSEMBL:ENSP00000422399.1", "UniProtKB:A0A250SH36", "UniProtKB:E9PDJ7", "ENSEMBL:ENSP00000422870", "ENSEMBL:ENSP00000422870.1", "UniProtKB:P48645", "PR:P48645", "ENSEMBL:ENSP00000264218", "ENSEMBL:ENSP00000264218.3", "UMLS:C5441768", "UniProtKB:Q86WB6"], "information_content": 100.0}
{"id": "NCBIGene:5471", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPAT", "equivalent_identifiers": ["NCBIGene:5471", "ENSEMBL:ENSG00000128059", "HGNC:9238", "OMIM:172450", "UMLS:C1418780", "UniProtKB:A8K4H7", "UniProtKB:Q06203", "PR:Q06203", "ENSEMBL:ENSP00000264220", "ENSEMBL:ENSP00000264220.2", "UMLS:C5441689", "UniProtKB:Q59G63"], "information_content": 90.9}
{"id": "NCBIGene:79644", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRD5A3", "equivalent_identifiers": ["NCBIGene:79644", "ENSEMBL:ENSG00000128039", "HGNC:25812", "OMIM:611715", "UMLS:C2240046", "UniProtKB:A0A7P0TBH6", "ENSEMBL:ENSP00000506601", "ENSEMBL:ENSP00000506601.1", "UniProtKB:Q9H8P0", "PR:Q9H8P0", "ENSEMBL:ENSP00000264228", "ENSEMBL:ENSP00000264228.4", "UMLS:C2933073", "UMLS:C3538879", "MESH:C548469"], "information_content": 92.8}
{"id": "MONDO:0013737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 46", "equivalent_identifiers": ["MONDO:0013737", "DOID:0110798", "OMIM:614409", "orphanet:320391", "UMLS:C2828721", "SNOMEDCT:723822009", "medgen:473687"], "information_content": 100.0}
{"id": "NCBIGene:57482", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRACD", "equivalent_identifiers": ["NCBIGene:57482", "ENSEMBL:ENSG00000109265", "HGNC:29219", "OMIM:618327", "UMLS:C2681628", "UniProtKB:A0A2R8Y6P1", "ENSEMBL:ENSP00000495373", "ENSEMBL:ENSP00000495373.2", "UniProtKB:F5H1N7", "ENSEMBL:ENSP00000444006", "ENSEMBL:ENSP00000444006.1", "UniProtKB:Q6ZU35", "PR:Q6ZU35", "ENSEMBL:ENSP00000264229", "ENSEMBL:ENSP00000264229.6", "ENSEMBL:ENSP00000423366", "ENSEMBL:ENSP00000423366.1", "ENSEMBL:ENSP00000507165", "ENSEMBL:ENSP00000507165.1", "UMLS:C5197042", "MESH:C000630792"], "information_content": 100.0}
{"id": "NCBIGene:84273", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOA1", "equivalent_identifiers": ["NCBIGene:84273", "ENSEMBL:ENSG00000084092", "HGNC:28473", "OMIM:614919", "UMLS:C1428713", "UniProtKB:Q8NC60", "PR:Q8NC60", "ENSEMBL:ENSP00000264230", "ENSEMBL:ENSP00000264230.4", "UMLS:C2715002", "MESH:C539734"], "information_content": 95.4}
{"id": "UniProtKB:Q9HBU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "popeye domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBU9-1", "PR:Q9HBU9-1", "ENSEMBL:ENSP00000264231", "ENSEMBL:ENSP00000264231.3"], "information_content": 100.0}
{"id": "UniProtKB:O75417-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA polymerase theta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75417-1", "PR:O75417-1", "ENSEMBL:ENSP00000264233", "ENSEMBL:ENSP00000264233.5"], "information_content": 100.0}
{"id": "NCBIGene:7348", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UPK1B", "equivalent_identifiers": ["NCBIGene:7348", "ENSEMBL:ENSG00000114638", "HGNC:12578", "OMIM:602380", "UMLS:C1421365", "UniProtKB:O75841", "PR:O75841", "ENSEMBL:ENSP00000264234", "ENSEMBL:ENSP00000264234.3", "UMLS:C1435048", "MESH:C086452"], "information_content": 95.4}
{"id": "NCBIGene:57514", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGAP31", "equivalent_identifiers": ["NCBIGene:57514", "ENSEMBL:ENSG00000031081", "HGNC:29216", "OMIM:610911", "UMLS:C1970471", "UniProtKB:A0A8S0MHV1", "UniProtKB:Q2M1Z3", "PR:Q2M1Z3", "ENSEMBL:ENSP00000264245", "ENSEMBL:ENSP00000264245.4", "UMLS:C1742421", "MESH:C514543"], "information_content": 90.9}
{"id": "UniProtKB:P33681-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-lymphocyte activation antigen CD80 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P33681-1", "PR:P33681-1", "ENSEMBL:ENSP00000264246", "ENSEMBL:ENSP00000264246.3", "ENSEMBL:ENSP00000418364", "ENSEMBL:ENSP00000418364.1"], "information_content": 100.0}
{"id": "NCBIGene:79031", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDCL3", "equivalent_identifiers": ["NCBIGene:79031", "ENSEMBL:ENSG00000115539", "HGNC:28860", "OMIM:611678", "UMLS:C1428747", "UniProtKB:Q9H2J4", "PR:Q9H2J4", "ENSEMBL:ENSP00000264254", "ENSEMBL:ENSP00000264254.6", "ENSEMBL:ENSP00000520716", "ENSEMBL:ENSP00000520716.1", "UMLS:C1527972", "MESH:C498322"], "information_content": 100.0}
{"id": "UniProtKB:O14530-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin domain-containing protein 9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14530-1", "PR:O14530-1", "ENSEMBL:ENSP00000264255", "ENSEMBL:ENSP00000264255.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9HB29-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-1 receptor-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HB29-1", "PR:Q9HB29-1", "ENSEMBL:ENSP00000264257", "ENSEMBL:ENSP00000264257.2"], "information_content": 100.0}
{"id": "UniProtKB:O95256-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-18 receptor accessory protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95256-1", "PR:O95256-1", "ENSEMBL:ENSP00000264260", "ENSEMBL:ENSP00000264260.2", "ENSEMBL:ENSP00000510345", "ENSEMBL:ENSP00000510345.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96RP9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "elongation factor G, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96RP9-2", "PR:Q96RP9-2", "ENSEMBL:ENSP00000264263", "ENSEMBL:ENSP00000264263.5"], "information_content": 100.0}
{"id": "NCBIGene:56925", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LXN", "equivalent_identifiers": ["NCBIGene:56925", "ENSEMBL:ENSG00000079257", "HGNC:13347", "OMIM:609305", "UMLS:C1537624", "UniProtKB:Q9BS40", "PR:Q9BS40", "ENSEMBL:ENSP00000264265", "ENSEMBL:ENSP00000264265.3", "UMLS:C4307742", "MESH:C000611527"], "information_content": 88.2}
{"id": "MONDO:0011830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 1", "equivalent_identifiers": ["MONDO:0011830", "DOID:0112237", "OMIM:607432", "orphanet:95232", "UMLS:C4749301", "SNOMEDCT:770560008", "medgen:1657090"], "information_content": 100.0}
{"id": "MONDO:0005743", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalitozoonosis", "equivalent_identifiers": ["MONDO:0005743", "DOID:4270", "EFO:0007250", "UMLS:C0085412", "MESH:D016890", "SNOMEDCT:12825006", "medgen:39043"], "information_content": 100.0}
{"id": "UniProtKB:Q96Q42-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alsin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q42-1", "PR:Q96Q42-1", "ENSEMBL:ENSP00000264276", "ENSEMBL:ENSP00000264276.6", "ENSEMBL:ENSP00000505043", "ENSEMBL:ENSP00000505043.1", "ENSEMBL:ENSP00000505092", "ENSEMBL:ENSP00000505092.1", "ENSEMBL:ENSP00000505187", "ENSEMBL:ENSP00000505187.1", "ENSEMBL:ENSP00000505218", "ENSEMBL:ENSP00000505218.1"], "information_content": 100.0}
{"id": "NCBIGene:51602", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOP58", "equivalent_identifiers": ["NCBIGene:51602", "ENSEMBL:ENSG00000055044", "HGNC:29926", "OMIM:616742", "UMLS:C2678522", "UniProtKB:Q9Y2X3", "PR:Q9Y2X3", "ENSEMBL:ENSP00000264279", "ENSEMBL:ENSP00000264279.5", "UMLS:C1453127", "MESH:C499062"], "information_content": 95.4}
{"id": "NCBIGene:7294", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TXK", "equivalent_identifiers": ["NCBIGene:7294", "ENSEMBL:ENSG00000074966", "HGNC:12434", "OMIM:600058", "UMLS:C1421246", "UniProtKB:P42681", "PR:P42681", "ENSEMBL:ENSP00000264316", "ENSEMBL:ENSP00000264316.4", "UMLS:C5202949"], "information_content": 90.9}
{"id": "NCBIGene:2557", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABRA4", "equivalent_identifiers": ["NCBIGene:2557", "ENSEMBL:ENSG00000109158", "HGNC:4078", "OMIM:137141", "UMLS:C1414911", "UniProtKB:P48169", "PR:P48169", "ENSEMBL:ENSP00000264318", "ENSEMBL:ENSP00000264318.3", "UMLS:C2715817", "MESH:C546260", "UniProtKB:X5D7F5"], "information_content": 95.4}
{"id": "UniProtKB:Q02880-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA topoisomerase 2-beta isoform hBeta-2 (human)", "equivalent_identifiers": ["UniProtKB:Q02880-1", "PR:Q02880-1", "ENSEMBL:ENSP00000264331", "ENSEMBL:ENSP00000264331.4"], "information_content": 100.0}
{"id": "UniProtKB:P62258-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "14-3-3 protein epsilon isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62258-1", "PR:P62258-1", "ENSEMBL:ENSP00000264335", "ENSEMBL:ENSP00000264335.8", "ENSEMBL:ENSP00000487356", "ENSEMBL:ENSP00000487356.1"], "information_content": 92.8}
{"id": "UniProtKB:O94988-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM13A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O94988-4", "PR:O94988-4", "ENSEMBL:ENSP00000264344", "ENSEMBL:ENSP00000264344.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVU3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable E3 ubiquitin-protein ligase HERC6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVU3-1", "PR:Q8IVU3-1", "ENSEMBL:ENSP00000264346", "ENSEMBL:ENSP00000264346.8"], "information_content": 100.0}
{"id": "NCBIGene:51191", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HERC5", "equivalent_identifiers": ["NCBIGene:51191", "ENSEMBL:ENSG00000138646", "HGNC:24368", "OMIM:608242", "UMLS:C1332749", "UniProtKB:B4DXV3", "UniProtKB:Q9UII4", "PR:Q9UII4", "ENSEMBL:ENSP00000264350", "ENSEMBL:ENSP00000264350.3", "UMLS:C1438632", "MESH:C402395"], "information_content": 86.3}
{"id": "UniProtKB:Q9P2E7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin-10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2E7-1", "PR:Q9P2E7-1", "ENSEMBL:ENSP00000264360", "ENSEMBL:ENSP00000264360.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3R1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3R1-1", "PR:Q9H3R1-1", "ENSEMBL:ENSP00000264363", "ENSEMBL:ENSP00000264363.2"], "information_content": 100.0}
{"id": "MONDO:0011531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 2", "equivalent_identifiers": ["MONDO:0011531", "DOID:0060580", "OMIM:605275", "UMLS:C1854469", "MESH:C548081", "NCIT:C176930", "medgen:344290"], "information_content": 100.0}
{"id": "NCBIGene:1421", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRYGD", "equivalent_identifiers": ["NCBIGene:1421", "ENSEMBL:ENSG00000118231", "HGNC:2411", "OMIM:123690", "UMLS:C1413736", "UniProtKB:A0A140CTX7", "UMLS:C1615561", "MESH:C504903", "UniProtKB:P07320", "PR:P07320", "ENSEMBL:ENSP00000264376", "ENSEMBL:ENSP00000264376.4", "ENSEMBL:ENSP00000496652", "ENSEMBL:ENSP00000496652.1"], "information_content": 95.4}
{"id": "UniProtKB:O75077-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 23 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:O75077-1", "PR:O75077-1", "ENSEMBL:ENSP00000264377", "ENSEMBL:ENSP00000264377.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2I7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-phosphatidylinositol 3-phosphate 5-kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2I7-1", "PR:Q9Y2I7-1", "ENSEMBL:ENSP00000264380", "ENSEMBL:ENSP00000264380.4"], "information_content": 100.0}
{"id": "MONDO:0011185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Thiel-Behnke corneal dystrophy", "equivalent_identifiers": ["MONDO:0011185", "DOID:0060455", "OMIM:602082", "orphanet:98960", "UMLS:C1562894", "MESH:C535942", "SNOMEDCT:417065002", "medgen:287070", "icd11.foundation:2082568100"], "information_content": 100.0}
{"id": "MONDO:0012043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Reis-Bucklers corneal dystrophy", "equivalent_identifiers": ["MONDO:0012043", "DOID:0060453", "OMIM:608470", "orphanet:98961", "UMLS:C0339278", "MESH:C535476", "SNOMEDCT:231930000", "medgen:83284"], "information_content": 100.0}
{"id": "MONDO:0001490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal granular dystrophy", "equivalent_identifiers": ["MONDO:0001490", "DOID:12318", "UMLS:C0018179", "MEDDRA:10018673", "NCIT:C34651", "SNOMEDCT:45283008", "medgen:42290", "ICD10:H18.53", "ICD9:371.53", "HP:0007802"], "information_content": 92.8}
{"id": "MONDO:0014287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 11 with or without polydactyly", "equivalent_identifiers": ["MONDO:0014287", "DOID:0110095", "OMIM:615633", "UMLS:C3810200", "medgen:816530"], "information_content": 100.0}
{"id": "MONDO:0007375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epithelial basement membrane dystrophy", "equivalent_identifiers": ["MONDO:0007375", "DOID:0060447", "OMIM:121820", "orphanet:98956", "UMLS:C0271285", "UMLS:C0521723", "MESH:C535477", "MEDDRA:10064871", "MEDDRA:10079542", "SNOMEDCT:32935005", "SNOMEDCT:373426005", "medgen:99275", "HP:0007690"], "information_content": 100.0}
{"id": "MONDO:0007381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epithelial recurrent erosion dystrophy", "equivalent_identifiers": ["MONDO:0007381", "DOID:0070337", "OMIM:122400", "orphanet:293381", "UMLS:C1852551", "MESH:C565155", "SNOMEDCT:715908008", "medgen:342263", "icd11.foundation:1105690299"], "information_content": 100.0}
{"id": "NCBIGene:590", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCHE", "equivalent_identifiers": ["NCBIGene:590", "ENSEMBL:ENSG00000114200", "HGNC:983", "OMIM:177400", "UMLS:C1412756", "UniProtKB:P06276", "PR:P06276", "ENSEMBL:ENSP00000264381", "ENSEMBL:ENSP00000264381.3", "UMLS:C4082696", "UMLS:C5226109", "MESH:C000655044"], "information_content": 85.5}
{"id": "NCBIGene:6476", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SI", "equivalent_identifiers": ["NCBIGene:6476", "ENSEMBL:ENSG00000090402", "HGNC:10856", "OMIM:609845", "UMLS:C1420044", "UniProtKB:P14410", "PR:P14410", "ENSEMBL:ENSP00000264382", "ENSEMBL:ENSP00000264382.3", "UMLS:C5780715"], "information_content": 92.8}
{"id": "UniProtKB:Q13237-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cGMP-dependent protein kinase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13237-1", "PR:Q13237-1", "ENSEMBL:ENSP00000264399", "ENSEMBL:ENSP00000264399.1", "ENSEMBL:ENSP00000378945", "ENSEMBL:ENSP00000378945.1"], "information_content": 100.0}
{"id": "UniProtKB:Q0VAM2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-GEF domain-containing family member 1B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q0VAM2-1", "PR:Q0VAM2-1", "ENSEMBL:ENSP00000264400", "ENSEMBL:ENSP00000264400.2"], "information_content": 100.0}
{"id": "NCBIGene:84803", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPAT3", "equivalent_identifiers": ["NCBIGene:84803", "ENSEMBL:ENSG00000138678", "HGNC:28157", "OMIM:610958", "UMLS:C1970419", "UniProtKB:A0A024RDG5", "UMLS:C1959012", "MESH:C521685", "UniProtKB:Q53EU6", "PR:Q53EU6", "ENSEMBL:ENSP00000264409", "ENSEMBL:ENSP00000264409.4", "ENSEMBL:ENSP00000378651", "ENSEMBL:ENSP00000378651.2", "ENSEMBL:ENSP00000482571", "ENSEMBL:ENSP00000482571.1", "UMLS:C4724092"], "information_content": 100.0}
{"id": "MONDO:0018820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0018820", "DOID:0081386", "OMIM:616878", "orphanet:480864", "UMLS:C5567524", "SNOMEDCT:1172698005", "medgen:1798947"], "information_content": 100.0}
{"id": "UniProtKB:Q13618-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cullin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13618-1", "PR:Q13618-1", "ENSEMBL:ENSP00000264414", "ENSEMBL:ENSP00000264414.4"], "information_content": 100.0}
{"id": "UniProtKB:P48167-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycine receptor subunit beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48167-1", "PR:P48167-1", "ENSEMBL:ENSP00000264428", "ENSEMBL:ENSP00000264428.4", "ENSEMBL:ENSP00000427186", "ENSEMBL:ENSP00000427186.1"], "information_content": 100.0}
{"id": "MONDO:0005905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periodic limb movement disorder", "equivalent_identifiers": ["MONDO:0005905", "DOID:9207", "EFO:0007428", "UMLS:C0751774", "MESH:D020189", "MEDDRA:10064500", "MEDDRA:10064600", "SNOMEDCT:418763003", "medgen:199731", "icd11.foundation:1846518306", "ICD10:G47.61", "ICD9:327.51", "HP:5200300"], "information_content": 85.5}
{"id": "MONDO:0014516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly and chorioretinopathy 2", "equivalent_identifiers": ["MONDO:0014516", "DOID:0080106", "OMIM:616171", "UMLS:C4015388", "medgen:863825"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4G8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rap guanine nucleotide exchange factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4G8-1", "PR:Q9Y4G8-1", "ENSEMBL:ENSP00000264431", "ENSEMBL:ENSP00000264431.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9P278-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "folliculin-interacting protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P278-1", "PR:Q9P278-1", "ENSEMBL:ENSP00000264433", "ENSEMBL:ENSP00000264433.6"], "information_content": 100.0}
{"id": "MONDO:0003291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leiomyoma cutis", "equivalent_identifiers": ["MONDO:0003291", "DOID:5132", "UMLS:C0346064", "NCIT:C4482", "SNOMEDCT:254767008", "medgen:87533", "HP:0007620"], "information_content": 90.9}
{"id": "UniProtKB:P35612-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-adducin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35612-1", "PR:P35612-1", "ENSEMBL:ENSP00000264436", "ENSEMBL:ENSP00000264436.3", "ENSEMBL:ENSP00000384303", "ENSEMBL:ENSP00000384303.2", "ENSEMBL:ENSP00000384677", "ENSEMBL:ENSP00000384677.2"], "information_content": 100.0}
{"id": "UniProtKB:Q05195-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "max dimerization protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q05195-1", "PR:Q05195-1", "ENSEMBL:ENSP00000264444", "ENSEMBL:ENSP00000264444.2"], "information_content": 100.0}
{"id": "NCBIGene:10463", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC30A9", "equivalent_identifiers": ["NCBIGene:10463", "ENSEMBL:ENSG00000014824", "HGNC:1329", "OMIM:604604", "UMLS:C1413005", "UniProtKB:A0A0S2Z512", "UniProtKB:A0A0S2Z514", "UMLS:C1317896", "MESH:C120900", "UniProtKB:Q6PML9", "PR:Q6PML9", "ENSEMBL:ENSP00000264451", "ENSEMBL:ENSP00000264451.6"], "information_content": 100.0}
{"id": "MONDO:0000214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypermanganesemia with dystonia", "equivalent_identifiers": ["MONDO:0000214", "DOID:0080535", "OMIM.PS:613280", "UMLS:C4708509", "SNOMEDCT:768553002", "medgen:1632594"], "information_content": 92.8}
{"id": "NCBIGene:1008", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDH10", "equivalent_identifiers": ["NCBIGene:1008", "ENSEMBL:ENSG00000040731", "HGNC:1749", "OMIM:604555", "UMLS:C1413268", "UniProtKB:Q9Y6N8", "PR:Q9Y6N8", "ENSEMBL:ENSP00000264463", "ENSEMBL:ENSP00000264463.4", "UMLS:C1611857", "MESH:C107751", "UniProtKB:X5D8X5", "UniProtKB:X5DNG6"], "information_content": 95.4}
{"id": "NCBIGene:1475", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSTA", "equivalent_identifiers": ["NCBIGene:1475", "ENSEMBL:ENSG00000121552", "HGNC:2481", "OMIM:184600", "UMLS:C1413778", "UniProtKB:P01040", "PR:P01040", "ENSEMBL:ENSP00000264474", "ENSEMBL:ENSP00000264474.3", "UMLS:C0074365", "UMLS:C4283888", "MESH:C026407"], "information_content": 100.0}
{"id": "UniProtKB:P09038-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibroblast growth factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P09038-4", "PR:P09038-4", "ENSEMBL:ENSP00000264498", "ENSEMBL:ENSP00000264498.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWZ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BBSome complex member BBS7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWZ6-1", "PR:Q8IWZ6-1", "ENSEMBL:ENSP00000264499", "ENSEMBL:ENSP00000264499.4"], "information_content": 100.0}
{"id": "UniProtKB:Q2LD37-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bridge-like lipid transfer protein family member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2LD37-1", "PR:Q2LD37-1", "ENSEMBL:ENSP00000264501", "ENSEMBL:ENSP00000264501.4"], "information_content": 100.0}
{"id": "MONDO:0012581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 8", "equivalent_identifiers": ["MONDO:0012581", "DOID:0110336", "OMIM:610915", "UMLS:C1970458", "MESH:C536049", "medgen:410075"], "information_content": 100.0}
{"id": "MONDO:0005101", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulcerative colitis", "equivalent_identifiers": ["MONDO:0005101", "DOID:8577", "EFO:0000729", "UMLS:C0009324", "UMLS:C0375359", "MESH:D003093", "MEDDRA:10009900", "MEDDRA:10021238", "MEDDRA:10024123", "MEDDRA:10036785", "MEDDRA:10045365", "MEDDRA:10045366", "NCIT:C2952", "SNOMEDCT:441971007", "SNOMEDCT:64766004", "medgen:3532", "icd11.foundation:784669405", "ICD10:K51", "ICD9:556", "ICD9:556.5", "HP:0100279"], "information_content": 89.4}
{"id": "UniProtKB:Q15291-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinoblastoma-binding protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15291-1", "PR:Q15291-1", "ENSEMBL:ENSP00000264515", "ENSEMBL:ENSP00000264515.6"], "information_content": 100.0}
{"id": "NCBIGene:55081", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFT57", "equivalent_identifiers": ["NCBIGene:55081", "ENSEMBL:ENSG00000114446", "HGNC:17367", "OMIM:606621", "UMLS:C1825568", "UniProtKB:Q9NWB7", "PR:Q9NWB7", "ENSEMBL:ENSP00000264538", "ENSEMBL:ENSP00000264538.3", "UMLS:C1450433", "MESH:C499179"], "information_content": 90.9}
{"id": "MONDO:0005654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ascariasis", "equivalent_identifiers": ["MONDO:0005654", "DOID:456", "EFO:0007154", "UMLS:C0003950", "MESH:D001196", "MEDDRA:10003442", "NCIT:C128392", "SNOMEDCT:2435008", "medgen:2087", "icd11.foundation:17842540", "ICD10:B77", "ICD9:127.0"], "information_content": 95.4}
{"id": "NCBIGene:27338", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2S", "equivalent_identifiers": ["NCBIGene:27338", "ENSEMBL:ENSG00000108106", "HGNC:17895", "OMIM:610309", "UMLS:C1442769", "UniProtKB:Q16763", "PR:Q16763", "ENSEMBL:ENSP00000264552", "ENSEMBL:ENSP00000264552.8"], "information_content": 100.0}
{"id": "NCBIGene:3004", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GZMM", "equivalent_identifiers": ["NCBIGene:3004", "ENSEMBL:ENSG00000197540", "HGNC:4712", "OMIM:600311", "UMLS:C1415383", "UniProtKB:P51124", "PR:P51124", "ENSEMBL:ENSP00000264553", "ENSEMBL:ENSP00000264553.1", "UMLS:C1700559", "MESH:C509218", "UniProtKB:U3KQV5", "ENSEMBL:ENSP00000476255", "ENSEMBL:ENSP00000476255.2"], "information_content": 95.4}
{"id": "NCBIGene:25759", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SHC2", "equivalent_identifiers": ["NCBIGene:25759", "ENSEMBL:ENSG00000129946", "HGNC:29869", "OMIM:605217", "UMLS:C1428905", "UniProtKB:P98077", "PR:P98077", "ENSEMBL:ENSP00000264554", "ENSEMBL:ENSP00000264554.4", "UMLS:C1438152", "MESH:C099021"], "information_content": 95.4}
{"id": "MONDO:0958150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Borrelia miyamotoi disease", "equivalent_identifiers": ["MONDO:0958150", "DOID:0070527", "UMLS:C4076531", "SNOMEDCT:713014002"], "information_content": 100.0}
{"id": "UniProtKB:Q9P1Y6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PHD and RING finger domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P1Y6-1", "PR:Q9P1Y6-1", "ENSEMBL:ENSP00000264555", "ENSEMBL:ENSP00000264555.5"], "information_content": 100.0}
{"id": "UniProtKB:P20809-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P20809-1", "PR:P20809-1", "ENSEMBL:ENSP00000264563", "ENSEMBL:ENSP00000264563.1", "ENSEMBL:ENSP00000467355", "ENSEMBL:ENSP00000467355.1"], "information_content": 100.0}
{"id": "NCBIGene:175", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGA", "equivalent_identifiers": ["NCBIGene:175", "ENSEMBL:ENSG00000038002", "HGNC:318", "OMIM:613228", "UMLS:C1412276", "UniProtKB:P20933", "PR:P20933", "ENSEMBL:ENSP00000264595", "ENSEMBL:ENSP00000264595.2"], "information_content": 95.4}
{"id": "NCBIGene:55247", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEIL3", "equivalent_identifiers": ["NCBIGene:55247", "ENSEMBL:ENSG00000109674", "HGNC:24573", "OMIM:608934", "UMLS:C1538054", "UniProtKB:Q8TAT5", "PR:Q8TAT5", "ENSEMBL:ENSP00000264596", "ENSEMBL:ENSP00000264596.3", "UMLS:C1172441", "MESH:C468764"], "information_content": 89.4}
{"id": "UniProtKB:Q9H0T7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0T7-1", "PR:Q9H0T7-1", "ENSEMBL:ENSP00000264601", "ENSEMBL:ENSP00000264601.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BV36-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanophilin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BV36-1", "PR:Q9BV36-1", "ENSEMBL:ENSP00000264605", "ENSEMBL:ENSP00000264605.3"], "information_content": 100.0}
{"id": "MONDO:0012724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial cold autoinflammatory syndrome 2", "equivalent_identifiers": ["MONDO:0012724", "DOID:0090063", "OMIM:611762", "orphanet:247868", "UMLS:C2673198", "MESH:C567090", "NCIT:C119043", "SNOMEDCT:783146009", "medgen:435869"], "information_content": 100.0}
{"id": "UniProtKB:P56524-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone deacetylase 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P56524-1", "PR:P56524-1", "ENSEMBL:ENSP00000264606", "ENSEMBL:ENSP00000264606.3"], "information_content": 95.4}
{"id": "MONDO:0019797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrodysostosis", "equivalent_identifiers": ["MONDO:0019797", "DOID:14669", "OMIM.PS:101800", "orphanet:950", "UMLS:C0220659", "MESH:C538179", "MEDDRA:10079856", "MEDDRA:10079861", "MEDDRA:10079862", "SNOMEDCT:66758006", "medgen:113097", "icd11.foundation:477546932"], "information_content": 92.8}
{"id": "NCBIGene:51665", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASB1", "equivalent_identifiers": ["NCBIGene:51665", "ENSEMBL:ENSG00000065802", "HGNC:16011", "OMIM:605758", "UMLS:C1423907", "UniProtKB:B9A047", "ENSEMBL:ENSP00000387025", "ENSEMBL:ENSP00000387025.1", "UniProtKB:Q9Y576", "PR:Q9Y576", "ENSEMBL:ENSP00000264607", "ENSEMBL:ENSP00000264607.4"], "information_content": 92.8}
{"id": "MONDO:0003825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kidney oncocytoma", "equivalent_identifiers": ["MONDO:0003825", "DOID:6245", "EFO:1000315", "UMLS:C0346255", "MESH:C537750", "MEDDRA:10050176", "NCIT:C4526", "SNOMEDCT:254922006", "medgen:91094", "HP:0011798"], "information_content": 92.8}
{"id": "NCBIGene:1356", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CP", "equivalent_identifiers": ["NCBIGene:1356", "ENSEMBL:ENSG00000047457", "HGNC:2295", "OMIM:117700", "UMLS:C1439306", "UniProtKB:A5PL27", "UniProtKB:P00450", "PR:P00450", "ENSEMBL:ENSP00000264613", "ENSEMBL:ENSP00000264613.6", "UMLS:C5441691"], "information_content": 70.4}
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{"id": "UniProtKB:O43242-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome non-ATPase regulatory subunit 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43242-1", "PR:O43242-1", "ENSEMBL:ENSP00000264639", "ENSEMBL:ENSP00000264639.4"], "information_content": 100.0}
{"id": "NCBIGene:22794", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CASC3", "equivalent_identifiers": ["NCBIGene:22794", "ENSEMBL:ENSG00000108349", "HGNC:17040", "OMIM:606504", "UMLS:C1424704", "UniProtKB:O15234", "PR:O15234", "ENSEMBL:ENSP00000264645", "ENSEMBL:ENSP00000264645.6", "UMLS:C1137611", "MESH:C459802"], "information_content": 92.8}
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{"id": "UniProtKB:Q96IG2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/LRR-repeat protein 20 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96IG2-1", "PR:Q96IG2-1", "ENSEMBL:ENSP00000264658", "ENSEMBL:ENSP00000264658.6", "ENSEMBL:ENSP00000462271", "ENSEMBL:ENSP00000462271.1"], "information_content": 100.0}
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{"id": "NCBIGene:23530", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NNT", "equivalent_identifiers": ["NCBIGene:23530", "ENSEMBL:ENSG00000112992", "HGNC:7863", "OMIM:607878", "UMLS:C1417750", "UniProtKB:E9PCX7", "ENSEMBL:ENSP00000426343", "ENSEMBL:ENSP00000426343.1", "UMLS:C3179704", "MESH:C556045", "UniProtKB:Q13423", "PR:Q13423", "ENSEMBL:ENSP00000264663", "ENSEMBL:ENSP00000264663.5", "ENSEMBL:ENSP00000343873", "ENSEMBL:ENSP00000343873.4", "ENSEMBL:ENSP00000499249", "ENSEMBL:ENSP00000499249.1", "ENSEMBL:ENSP00000499281", "ENSEMBL:ENSP00000499281.1", "ENSEMBL:ENSP00000499494", "ENSEMBL:ENSP00000499494.1", "ENSEMBL:ENSP00000499527", "ENSEMBL:ENSP00000499527.1", "ENSEMBL:ENSP00000499611", "ENSEMBL:ENSP00000499611.1", "ENSEMBL:ENSP00000499639", "ENSEMBL:ENSP00000499639.1"], "information_content": 87.2}
{"id": "MONDO:0013443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 5", "equivalent_identifiers": ["MONDO:0013443", "DOID:0070012", "OMIM:613823", "UMLS:C3151187", "medgen:462537"], "information_content": 100.0}
{"id": "MONDO:0013935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1J", "equivalent_identifiers": ["MONDO:0013935", "DOID:0110836", "OMIM:614869", "UMLS:C3553944", "medgen:766858"], "information_content": 100.0}
{"id": "NCBIGene:2255", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGF10", "equivalent_identifiers": ["NCBIGene:2255", "ENSEMBL:ENSG00000070193", "HGNC:3666", "OMIM:602115", "UMLS:C1333535", "UniProtKB:O15520", "PR:O15520", "ENSEMBL:ENSP00000264664", "ENSEMBL:ENSP00000264664.4", "UMLS:C1432620", "MESH:C496463"], "information_content": 95.4}
{"id": "MONDO:0007841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coxopodopatellar syndrome", "equivalent_identifiers": ["MONDO:0007841", "DOID:0111382", "OMIM:147891", "orphanet:1509", "UMLS:C1840061", "UMLS:C1868581", "MESH:C535540", "MESH:C536307", "MEDDRA:10086423", "SNOMEDCT:720752007", "medgen:333474", "icd11.foundation:794154672"], "information_content": 100.0}
{"id": "NCBIGene:79072", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FASTKD3", "equivalent_identifiers": ["NCBIGene:79072", "ENSEMBL:ENSG00000124279", "HGNC:28758", "OMIM:617530", "UMLS:C1825281", "UniProtKB:D6RAR6", "ENSEMBL:ENSP00000421798", "ENSEMBL:ENSP00000421798.1", "UniProtKB:Q14CZ7", "PR:Q14CZ7", "ENSEMBL:ENSP00000264669", "ENSEMBL:ENSP00000264669.5", "UMLS:C2973969", "MESH:C553800"], "information_content": 100.0}
{"id": "UniProtKB:Q08J23-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA cytosine C(5)-methyltransferase NSUN2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08J23-1", "PR:Q08J23-1", "ENSEMBL:ENSP00000264670", "ENSEMBL:ENSP00000264670.6"], "information_content": 100.0}
{"id": "UniProtKB:Q03112-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase MECOM isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:Q03112-4", "PR:Q03112-4", "ENSEMBL:ENSP00000264674", "ENSEMBL:ENSP00000264674.3"], "information_content": 100.0}
{"id": "NCBIGene:55325", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UFSP2", "equivalent_identifiers": ["NCBIGene:55325", "ENSEMBL:ENSG00000109775", "HGNC:25640", "OMIM:611482", "UMLS:C1824165", "UniProtKB:B3KRI4", "UniProtKB:Q9NUQ7", "PR:Q9NUQ7", "ENSEMBL:ENSP00000264689", "ENSEMBL:ENSP00000264689.6"], "information_content": 89.4}
{"id": "MONDO:0100435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schwartz-Jampel syndrome type 1", "equivalent_identifiers": ["MONDO:0100435", "DOID:0090005", "OMIM:255800", "UMLS:C4551479", "medgen:1647990"], "information_content": 100.0}
{"id": "MONDO:0013231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 14", "equivalent_identifiers": ["MONDO:0013231", "DOID:0110188", "OMIM:613341", "UMLS:C2750063", "UMLS:C2750064", "UMLS:C2750065", "MESH:C567636", "medgen:442375"], "information_content": 100.0}
{"id": "NCBIGene:3818", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLKB1", "equivalent_identifiers": ["NCBIGene:3818", "ENSEMBL:ENSG00000164344", "HGNC:6371", "OMIM:229000", "UMLS:C1416681", "UniProtKB:A8K9A9", "UniProtKB:B4DMX2", "UniProtKB:E9PBC5", "ENSEMBL:ENSP00000424469", "ENSEMBL:ENSP00000424469.2", "UniProtKB:P03952", "PR:P03952", "ENSEMBL:ENSP00000264690", "ENSEMBL:ENSP00000264690.6", "UMLS:C5441858", "MESH:C000728541"], "information_content": 84.2}
{"id": "MONDO:0004728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetic macular edema", "equivalent_identifiers": ["MONDO:0004728", "DOID:9191", "EFO:0009321", "UMLS:C0730285", "MEDDRA:10057915", "MEDDRA:10057934", "SNOMEDCT:312912001", "medgen:676494", "ICD9:362.07"], "information_content": 100.0}
{"id": "MONDO:0000376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "respiratory system cancer", "equivalent_identifiers": ["MONDO:0000376", "DOID:0050615", "UMLS:C3164456", "MEDDRA:10026676", "MEDDRA:10061270", "NCIT:C4571", "SNOMEDCT:449096009", "medgen:756863"], "information_content": 58.7}
{"id": "NCBIGene:64838", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FNDC4", "equivalent_identifiers": ["NCBIGene:64838", "ENSEMBL:ENSG00000115226", "HGNC:20239", "OMIM:611905", "UMLS:C1426802", "UniProtKB:Q9H6D8", "PR:Q9H6D8", "ENSEMBL:ENSP00000264703", "ENSEMBL:ENSP00000264703.3", "UMLS:C4308680", "MESH:C000610535"], "information_content": 95.4}
{"id": "NCBIGene:790", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAD", "equivalent_identifiers": ["NCBIGene:790", "ENSEMBL:ENSG00000084774", "HGNC:1424", "OMIM:114010", "UMLS:C1413078", "UniProtKB:F8VPD4", "ENSEMBL:ENSP00000384510", "ENSEMBL:ENSP00000384510.1", "UMLS:C1455203", "UniProtKB:P27708", "PR:P27708", "ENSEMBL:ENSP00000264705", "ENSEMBL:ENSP00000264705.3", "UMLS:C3642322"], "information_content": 81.3}
{"id": "UniProtKB:Q9Y6K1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA (cytosine-5)-methyltransferase 3A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6K1-1", "PR:Q9Y6K1-1", "ENSEMBL:ENSP00000264709", "ENSEMBL:ENSP00000264709.3", "ENSEMBL:ENSP00000324375", "ENSEMBL:ENSP00000324375.5"], "information_content": 100.0}
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{"id": "UniProtKB:Q9NZQ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily C member 27 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZQ0-1", "PR:Q9NZQ0-1", "ENSEMBL:ENSP00000264711", "ENSEMBL:ENSP00000264711.2"], "information_content": 100.0}
{"id": "NCBIGene:3797", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIF3C", "equivalent_identifiers": ["NCBIGene:3797", "ENSEMBL:ENSG00000084731", "HGNC:6321", "OMIM:602845", "UMLS:C1416636", "UniProtKB:A2RU78", "UMLS:C1431163", "MESH:C110520", "UniProtKB:O14782", "PR:O14782", "ENSEMBL:ENSP00000264712", "ENSEMBL:ENSP00000264712.3", "ENSEMBL:ENSP00000385030", "ENSEMBL:ENSP00000385030.1"], "information_content": 95.4}
{"id": "UniProtKB:P15408-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fos-related antigen 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P15408-1", "PR:P15408-1", "ENSEMBL:ENSP00000264716", "ENSEMBL:ENSP00000264716.4"], "information_content": 100.0}
{"id": "NCBIGene:2646", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GCKR", "equivalent_identifiers": ["NCBIGene:2646", "ENSEMBL:ENSG00000084734", "HGNC:4196", "OMIM:600842", "UMLS:C1415015", "UniProtKB:A0A0C4DFN2", "ENSEMBL:ENSP00000264717", "ENSEMBL:ENSP00000264717.2", "UniProtKB:Q14397", "PR:Q14397", "UMLS:C1451323", "MESH:C485100"]}
{"id": "UniProtKB:Q9HCN4-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GPN-loop GTPase 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCN4-5", "PR:Q9HCN4-5", "ENSEMBL:ENSP00000264718", "ENSEMBL:ENSP00000264718.3", "ENSEMBL:ENSP00000484680", "ENSEMBL:ENSP00000484680.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3D4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor protein 63 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3D4-1", "PR:Q9H3D4-1", "ENSEMBL:ENSP00000264731", "ENSEMBL:ENSP00000264731.3"], "information_content": 100.0}
{"id": "MONDO:0029145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 8", "equivalent_identifiers": ["MONDO:0029145", "DOID:0080401", "OMIM:618149", "UMLS:C1851878", "MESH:C565070", "medgen:377541"], "information_content": 100.0}
{"id": "MONDO:0001142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "salivary gland disorder", "equivalent_identifiers": ["MONDO:0001142", "DOID:10854", "EFO:0008581", "UMLS:C0029773", "UMLS:C0036093", "UMLS:C0149772", "MESH:D012466", "MEDDRA:10032633", "MEDDRA:10039405", "MEDDRA:10045759", "MEDDRA:10061935", "NCIT:C26879", "SNOMEDCT:10890000", "medgen:892384", "ICD9:527.8", "HP:0010286"], "information_content": 62.8}
{"id": "MONDO:0012022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofacial cleft 4", "equivalent_identifiers": ["MONDO:0012022", "DOID:0080398", "OMIM:608371", "UMLS:C1842143", "MESH:C564251", "medgen:331228"], "information_content": 100.0}
{"id": "NCBIGene:10686", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN16", "equivalent_identifiers": ["NCBIGene:10686", "ENSEMBL:ENSG00000113946", "HGNC:2037", "OMIM:603959", "UMLS:C1413465", "UniProtKB:Q9Y5I7", "PR:Q9Y5I7", "ENSEMBL:ENSP00000264734", "ENSEMBL:ENSP00000264734.3", "UMLS:C1449279"], "information_content": 100.0}
{"id": "MONDO:0018100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hypomagnesemia", "equivalent_identifiers": ["MONDO:0018100", "DOID:0060879", "OMIM.PS:602014", "UMLS:C0151723", "UMLS:C4049202", "MEDDRA:10021027", "MEDDRA:10021028", "MEDDRA:10076626", "MEDDRA:10076629", "NCIT:C123263", "NCIT:C37975", "SNOMEDCT:190855004", "SNOMEDCT:80710001", "medgen:57481", "ICD10:E83.4", "HP:0002917"], "information_content": 80.2}
{"id": "NCBIGene:3680", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITGA9", "equivalent_identifiers": ["NCBIGene:3680", "ENSEMBL:ENSG00000144668", "HGNC:6145", "OMIM:603963", "UMLS:C1416491", "UniProtKB:Q13797", "PR:Q13797", "ENSEMBL:ENSP00000264741", "ENSEMBL:ENSP00000264741.5", "ENSEMBL:ENSP00000516955", "ENSEMBL:ENSP00000516955.1", "UMLS:C2717020", "MESH:C541973", "UniProtKB:Q8N6H6"], "information_content": 92.8}
{"id": "UniProtKB:P35611-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-adducin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P35611-3", "PR:P35611-3", "ENSEMBL:ENSP00000264758", "ENSEMBL:ENSP00000264758.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSA9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endosomal/lysosomal proton channel TMEM175 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSA9-1", "PR:Q9BSA9-1", "ENSEMBL:ENSP00000264771", "ENSEMBL:ENSP00000264771.4"], "information_content": 100.0}
{"id": "MONDO:0032740", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 100", "equivalent_identifiers": ["MONDO:0032740", "DOID:0111638", "OMIM:618422", "UMLS:C5193087", "medgen:1682525"], "information_content": 100.0}
{"id": "UniProtKB:O14494-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid phosphatase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O14494-2", "PR:O14494-2", "ENSEMBL:ENSP00000264775", "ENSEMBL:ENSP00000264775.5"], "information_content": 100.0}
{"id": "MONDO:0024686", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tenosynovial giant cell tumor, diffuse type", "equivalent_identifiers": ["MONDO:0024686", "DOID:2702", "DOID:9898", "orphanet:66627", "EFO:1001106", "UMLS:C0039106", "UMLS:C0158168", "MESH:D013586", "MEDDRA:10042875", "MEDDRA:10047413", "MEDDRA:10047423", "MEDDRA:10084212", "NCIT:C3401", "SNOMEDCT:1295265008", "SNOMEDCT:703703002", "SNOMEDCT:95412009", "medgen:11691", "ICD10:M12.2", "ICD10:M12.20", "ICD9:719.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRM0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 2, facilitated glucose transporter member 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRM0-1", "PR:Q9NRM0-1", "ENSEMBL:ENSP00000264784", "ENSEMBL:ENSP00000264784.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PR domain zinc finger protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQX1-1", "PR:Q9NQX1-1", "ENSEMBL:ENSP00000264808", "ENSEMBL:ENSP00000264808.3"], "information_content": 100.0}
{"id": "NCBIGene:54531", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MIER2", "equivalent_identifiers": ["NCBIGene:54531", "ENSEMBL:ENSG00000105556", "HGNC:29210", "OMIM:620092", "UMLS:C1825992", "UniProtKB:Q8N344", "PR:Q8N344", "ENSEMBL:ENSP00000264819", "ENSEMBL:ENSP00000264819.3", "UMLS:C4548435", "MESH:C000621854"], "information_content": 100.0}
{"id": "MONDO:0006721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "de Quervain disease", "equivalent_identifiers": ["MONDO:0006721", "DOID:14107", "EFO:1000891", "UMLS:C0149870", "MESH:D053684", "MEDDRA:10037753", "MEDDRA:10056698", "MEDDRA:10056713", "SNOMEDCT:21794005", "medgen:101771", "ICD10:M65.4", "ICD9:727.04"], "information_content": 100.0}
{"id": "NCBIGene:4066", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LYL1", "equivalent_identifiers": ["NCBIGene:4066", "ENSEMBL:ENSG00000104903", "HGNC:6734", "OMIM:151440", "UMLS:C1334354", "UniProtKB:P12980", "PR:P12980", "ENSEMBL:ENSP00000264824", "ENSEMBL:ENSP00000264824.3", "UMLS:C1334355", "MESH:C086541"], "information_content": 95.4}
{"id": "NCBIGene:50509", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL5A3", "equivalent_identifiers": ["NCBIGene:50509", "ENSEMBL:ENSG00000080573", "HGNC:14864", "OMIM:120216", "UMLS:C1423007", "UniProtKB:P25940", "PR:P25940", "ENSEMBL:ENSP00000264828", "ENSEMBL:ENSP00000264828.3"], "information_content": 80.9}
{"id": "NCBIGene:3383", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ICAM1", "equivalent_identifiers": ["NCBIGene:3383", "ENSEMBL:ENSG00000090339", "HGNC:5344", "OMIM:147840", "UMLS:C1334074", "UniProtKB:A0A384MEK5", "UniProtKB:P05362", "PR:P05362", "ENSEMBL:ENSP00000264832", "ENSEMBL:ENSP00000264832.2", "UMLS:C3493229", "MESH:C573420"], "information_content": 80.9}
{"id": "NCBIGene:93145", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OLFM2", "equivalent_identifiers": ["NCBIGene:93145", "ENSEMBL:ENSG00000105088", "HGNC:17189", "OMIM:617492", "UMLS:C1424809", "UniProtKB:K7EIS8", "ENSEMBL:ENSP00000464877", "ENSEMBL:ENSP00000464877.1", "UMLS:C4041638", "MESH:C000600297", "UniProtKB:K7EKW2", "ENSEMBL:ENSP00000465809", "ENSEMBL:ENSP00000465809.2", "UniProtKB:O95897", "PR:O95897", "ENSEMBL:ENSP00000264833", "ENSEMBL:ENSP00000264833.3"], "information_content": 100.0}
{"id": "NCBIGene:10661", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLF1", "equivalent_identifiers": ["NCBIGene:10661", "ENSEMBL:ENSG00000105610", "HGNC:6345", "OMIM:600599", "UMLS:C1416657", "UniProtKB:Q13351", "PR:Q13351", "ENSEMBL:ENSP00000264834", "ENSEMBL:ENSP00000264834.3", "UMLS:C1569967"], "information_content": 100.0}
{"id": "NCBIGene:55300", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PI4K2B", "equivalent_identifiers": ["NCBIGene:55300", "ENSEMBL:ENSG00000038210", "HGNC:18215", "OMIM:612101", "UMLS:C1826582", "UniProtKB:G5E9Z4", "ENSEMBL:ENSP00000423373", "ENSEMBL:ENSP00000423373.1", "UMLS:C2604068", "UniProtKB:Q8TCG2", "PR:Q8TCG2", "ENSEMBL:ENSP00000264864", "ENSEMBL:ENSP00000264864.6"], "information_content": 90.9}
{"id": "UniProtKB:Q9UBK2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBK2-1", "PR:Q9UBK2-1", "ENSEMBL:ENSP00000264867", "ENSEMBL:ENSP00000264867.2"], "information_content": 100.0}
{"id": "NCBIGene:2162", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "F13A1", "equivalent_identifiers": ["NCBIGene:2162", "ENSEMBL:ENSG00000124491", "HGNC:3531", "OMIM:134570", "UMLS:C1414500", "UniProtKB:P00488", "PR:P00488", "ENSEMBL:ENSP00000264870", "ENSEMBL:ENSP00000264870.3"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z3B4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoporin p54 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3B4-1", "PR:Q7Z3B4-1", "ENSEMBL:ENSP00000264883", "ENSEMBL:ENSP00000264883.3"], "information_content": 100.0}
{"id": "UniProtKB:Q14108-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosome membrane protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14108-1", "PR:Q14108-1", "ENSEMBL:ENSP00000264896", "ENSEMBL:ENSP00000264896.2"], "information_content": 100.0}
{"id": "UniProtKB:O60763-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general vesicular transport factor p115 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60763-2", "PR:O60763-2", "ENSEMBL:ENSP00000264904", "ENSEMBL:ENSP00000264904.7"], "information_content": 100.0}
{"id": "MONDO:0019771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oromandibular dystonia", "equivalent_identifiers": ["MONDO:0019771", "DOID:0050843", "orphanet:93958", "UMLS:C2242577", "MEDDRA:10067954", "medgen:473560", "icd11.foundation:749381409", "HP:0012048"], "information_content": 100.0}
{"id": "NCBIGene:306", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANXA3", "equivalent_identifiers": ["NCBIGene:306", "ENSEMBL:ENSG00000138772", "HGNC:541", "OMIM:106490", "UMLS:C1412424", "UniProtKB:P12429", "PR:P12429", "ENSEMBL:ENSP00000264908", "ENSEMBL:ENSP00000264908.6", "UMLS:C4505853", "MESH:C000614859"], "information_content": 81.7}
{"id": "UniProtKB:P15848-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arylsulfatase B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P15848-1", "PR:P15848-1", "ENSEMBL:ENSP00000264914", "ENSEMBL:ENSP00000264914.4"], "information_content": 100.0}
{"id": "MONDO:0018234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysostosis", "equivalent_identifiers": ["MONDO:0018234", "DOID:1934", "orphanet:364559", "UMLS:C0013393", "MESH:D004413", "MEDDRA:10051834", "NCIT:C34560", "SNOMEDCT:109420003", "medgen:4430"], "information_content": 60.3}
{"id": "MONDO:0007885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Perthes Disease", "equivalent_identifiers": ["MONDO:0007885", "DOID:14415", "OMIM:150600", "orphanet:2380", "UMLS:C0022441", "UMLS:C0023234", "UMLS:C1442965", "MESH:D007873", "MEDDRA:10007041", "MEDDRA:10034735", "MEDDRA:10081350", "MEDDRA:10086281", "NCIT:C34766", "SNOMEDCT:111255008", "SNOMEDCT:15739006", "SNOMEDCT:240241003", "medgen:730669", "ICD10:M91.1", "ICD10:M91.2", "HP:0005743"], "information_content": 95.4}
{"id": "UniProtKB:O95263-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95263-1", "PR:O95263-1", "ENSEMBL:ENSP00000264917", "ENSEMBL:ENSP00000264917.6"], "information_content": 100.0}
{"id": "NCBIGene:56852", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAD18", "equivalent_identifiers": ["NCBIGene:56852", "ENSEMBL:ENSG00000070950", "HGNC:18278", "OMIM:605256", "UMLS:C1425416", "UniProtKB:Q9NS91", "PR:Q9NS91", "ENSEMBL:ENSP00000264926", "ENSEMBL:ENSP00000264926.2", "UMLS:C1434353", "MESH:C485954"], "information_content": 90.9}
{"id": "UniProtKB:Q9Y666-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 12 member 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y666-1", "PR:Q9Y666-1", "ENSEMBL:ENSP00000264930", "ENSEMBL:ENSP00000264930.5"], "information_content": 100.0}
{"id": "UniProtKB:P31040-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P31040-1", "PR:P31040-1", "ENSEMBL:ENSP00000264932", "ENSEMBL:ENSP00000264932.6"], "information_content": 100.0}
{"id": "UniProtKB:O75340-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "programmed cell death protein 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75340-1", "PR:O75340-1", "ENSEMBL:ENSP00000264933", "ENSEMBL:ENSP00000264933.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9P209-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 72 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P209-1", "PR:Q9P209-1", "ENSEMBL:ENSP00000264935", "ENSEMBL:ENSP00000264935.5"], "information_content": 100.0}
{"id": "MONDO:0004004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "motor neuritis", "equivalent_identifiers": ["MONDO:0004004", "DOID:683", "UMLS:C0235025", "MEDDRA:10028005", "MEDDRA:10029245", "MEDDRA:10034580", "medgen:68610"], "information_content": 95.4}
{"id": "UniProtKB:P48764-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/hydrogen exchanger 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48764-1", "PR:P48764-1", "ENSEMBL:ENSP00000264938", "ENSEMBL:ENSP00000264938.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZH2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5'-3' exoribonuclease 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZH2-1", "PR:Q8IZH2-1", "ENSEMBL:ENSP00000264951", "ENSEMBL:ENSP00000264951.4"], "information_content": 100.0}
{"id": "NCBIGene:131890", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRK7", "equivalent_identifiers": ["NCBIGene:131890", "ENSEMBL:ENSG00000114124", "HGNC:17031", "OMIM:606987", "UMLS:C1333701", "UniProtKB:Q8WTQ7", "PR:Q8WTQ7", "ENSEMBL:ENSP00000264952", "ENSEMBL:ENSP00000264952.2", "ENSEMBL:ENSP00000508022", "ENSEMBL:ENSP00000508022.1", "UMLS:C0673406", "MESH:C111571"], "information_content": 100.0}
{"id": "MONDO:0011309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial gestational hyperthyroidism", "equivalent_identifiers": ["MONDO:0011309", "DOID:0081102", "OMIM:603373", "orphanet:99819", "UMLS:C1863959", "MESH:C566384", "SNOMEDCT:703309000", "medgen:355106", "icd11.foundation:811229304"], "information_content": 100.0}
{"id": "NCBIGene:80273", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRPEL1", "equivalent_identifiers": ["NCBIGene:80273", "ENSEMBL:ENSG00000109519", "HGNC:19696", "OMIM:606173", "UMLS:C1426341", "UniProtKB:Q9HAV7", "PR:Q9HAV7", "ENSEMBL:ENSP00000264954", "ENSEMBL:ENSP00000264954.4", "UMLS:C1433109", "MESH:C484657"], "information_content": 86.3}
{"id": "NCBIGene:2121", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EVC", "equivalent_identifiers": ["NCBIGene:2121", "ENSEMBL:ENSG00000072840", "HGNC:3497", "OMIM:604831", "UMLS:C1414479", "UniProtKB:E9PCN4", "ENSEMBL:ENSP00000426774", "ENSEMBL:ENSP00000426774.1", "UniProtKB:P57679", "PR:P57679", "ENSEMBL:ENSP00000264956", "ENSEMBL:ENSP00000264956.6", "UMLS:C1438863", "MESH:C406058", "UniProtKB:Q5U3C2"], "information_content": 100.0}
{"id": "MONDO:0012543", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 5", "equivalent_identifiers": ["MONDO:0012543", "DOID:0111438", "OMIM:610708", "UMLS:C1853139", "MESH:C537126", "medgen:377837"], "information_content": 100.0}
{"id": "UniProtKB:Q9UM21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UM21-1", "PR:Q9UM21-1", "ENSEMBL:ENSP00000264968", "ENSEMBL:ENSP00000264968.2", "ENSEMBL:ENSP00000377127", "ENSEMBL:ENSP00000377127.1", "ENSEMBL:ENSP00000386841", "ENSEMBL:ENSP00000386841.1"], "information_content": 100.0}
{"id": "UniProtKB:P43403-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase ZAP-70 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P43403-1", "PR:P43403-1", "ENSEMBL:ENSP00000264972", "ENSEMBL:ENSP00000264972.5", "ENSEMBL:ENSP00000513759", "ENSEMBL:ENSP00000513759.1", "ENSEMBL:ENSP00000517108", "ENSEMBL:ENSP00000517108.1", "ENSEMBL:ENSP00000517109", "ENSEMBL:ENSP00000517109.1"], "information_content": 95.4}
{"id": "MONDO:0010626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgM syndrome type 1", "equivalent_identifiers": ["MONDO:0010626", "DOID:0060022", "DOID:6620", "OMIM:308230", "orphanet:101088", "UMLS:C0398689", "UMLS:C2348037", "MESH:D053307", "NCIT:C158531", "NCIT:C61244", "SNOMEDCT:403835002", "medgen:96019"], "information_content": 100.0}
{"id": "UniProtKB:Q06190-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha isoform PR130 (human)", "equivalent_identifiers": ["UniProtKB:Q06190-1", "PR:Q06190-1", "ENSEMBL:ENSP00000264977", "ENSEMBL:ENSP00000264977.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHQ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 70 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHQ1-1", "PR:Q8NHQ1-1", "ENSEMBL:ENSP00000264982", "ENSEMBL:ENSP00000264982.3", "ENSEMBL:ENSP00000419231", "ENSEMBL:ENSP00000419231.1"], "information_content": 100.0}
{"id": "UniProtKB:Q709F0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-CoA dehydrogenase family member 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q709F0-1", "PR:Q709F0-1", "ENSEMBL:ENSP00000264990", "ENSEMBL:ENSP00000264990.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein CDV3 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKY7-1", "PR:Q9UKY7-1", "ENSEMBL:ENSP00000264993", "ENSEMBL:ENSP00000264993.3"], "information_content": 100.0}
{"id": "NCBIGene:11222", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL3", "equivalent_identifiers": ["NCBIGene:11222", "ENSEMBL:ENSG00000114686", "HGNC:10379", "OMIM:607118", "UMLS:C1419695", "UniProtKB:P09001", "PR:P09001", "ENSEMBL:ENSP00000264995", "ENSEMBL:ENSP00000264995.2", "UMLS:C3492437", "MESH:C572431"], "information_content": 92.8}
{"id": "UniProtKB:O94993-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor SOX-30 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94993-1", "PR:O94993-1", "ENSEMBL:ENSP00000265007", "ENSEMBL:ENSP00000265007.6"], "information_content": 100.0}
{"id": "MONDO:0019073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome", "equivalent_identifiers": ["MONDO:0019073", "DOID:0111360", "OMIM:137940", "UMLS:C1841989", "UMLS:C4317151", "MESH:C536825", "SNOMEDCT:723363009", "medgen:1373459"], "information_content": 100.0}
{"id": "UniProtKB:Q10588-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q10588-1", "PR:Q10588-1", "ENSEMBL:ENSP00000265016", "ENSEMBL:ENSP00000265016.4"], "information_content": 100.0}
{"id": "NCBIGene:27146", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM184B", "equivalent_identifiers": ["NCBIGene:27146", "ENSEMBL:ENSG00000047662", "HGNC:29235", "OMIM:619945", "UMLS:C2681518", "UniProtKB:Q9ULE4", "PR:Q9ULE4", "ENSEMBL:ENSP00000265018", "ENSEMBL:ENSP00000265018.3"], "information_content": 95.4}
{"id": "MONDO:0010228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, X-linked 3", "equivalent_identifiers": ["MONDO:0010228", "DOID:0111736", "OMIM:300030", "UMLS:C3888089", "MESH:C564727", "medgen:854758"], "information_content": 100.0}
{"id": "MONDO:0010238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, X-linked 4", "equivalent_identifiers": ["MONDO:0010238", "DOID:0111735", "OMIM:300066", "UMLS:C1848204", "MESH:C564723", "NCIT:C180844", "medgen:376307"], "information_content": 100.0}
{"id": "MONDO:0013567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 3", "equivalent_identifiers": ["MONDO:0013567", "DOID:0110108", "OMIM:614089", "UMLS:C3279790", "MESH:C563540", "medgen:481420"], "information_content": 100.0}
{"id": "UniProtKB:P49619-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diacylglycerol kinase gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49619-1", "PR:P49619-1", "ENSEMBL:ENSP00000265022", "ENSEMBL:ENSP00000265022.3"], "information_content": 100.0}
{"id": "UniProtKB:O43283-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43283-1", "PR:O43283-1", "ENSEMBL:ENSP00000265026", "ENSEMBL:ENSP00000265026.3", "ENSEMBL:ENSP00000399910", "ENSEMBL:ENSP00000399910.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGM5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fetuin-B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGM5-1", "PR:Q9UGM5-1", "ENSEMBL:ENSP00000265029", "ENSEMBL:ENSP00000265029.3", "ENSEMBL:ENSP00000404288", "ENSEMBL:ENSP00000404288.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUY9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DEP domain-containing protein 1B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUY9-1", "PR:Q8WUY9-1", "ENSEMBL:ENSP00000265036", "ENSEMBL:ENSP00000265036.5"], "information_content": 100.0}
{"id": "UniProtKB:A0A7I2PE23", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A7I2PE23_HUMAN DNA excision repair protein ERCC-8 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A7I2PE23", "ENSEMBL:ENSP00000265038", "ENSEMBL:ENSP00000265038.6"]}
{"id": "NCBIGene:11343", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MGLL", "equivalent_identifiers": ["NCBIGene:11343", "ENSEMBL:ENSG00000074416", "HGNC:17038", "OMIM:609699", "UMLS:C1442515", "UniProtKB:A0A0C4DFN3", "ENSEMBL:ENSP00000265052", "ENSEMBL:ENSP00000265052.5", "UMLS:C5196831", "MESH:C000630200", "UniProtKB:B2ZGL7", "UniProtKB:Q99685", "PR:Q99685"]}
{"id": "NCBIGene:4171", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MCM2", "equivalent_identifiers": ["NCBIGene:4171", "ENSEMBL:ENSG00000073111", "HGNC:6944", "OMIM:116945", "UMLS:C1334489", "UniProtKB:P49736", "PR:P49736", "ENSEMBL:ENSP00000265056", "ENSEMBL:ENSP00000265056.7", "UMLS:C1437703", "MESH:C084859"], "information_content": 89.4}
{"id": "NCBIGene:7879", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB7A", "equivalent_identifiers": ["NCBIGene:7879", "ENSEMBL:ENSG00000075785", "HGNC:9788", "OMIM:602298", "UMLS:C1826758", "UniProtKB:A0A158RFU6", "UniProtKB:P51149", "PR:P51149", "ENSEMBL:ENSP00000265062", "ENSEMBL:ENSP00000265062.3", "ENSEMBL:ENSP00000501618", "ENSEMBL:ENSP00000501618.1", "ENSEMBL:ENSP00000502000", "ENSEMBL:ENSP00000502000.1", "ENSEMBL:ENSP00000502088", "ENSEMBL:ENSP00000502088.1", "ENSEMBL:ENSP00000502486", "ENSEMBL:ENSP00000502486.1", "UMLS:C3890561", "MESH:C000717673"], "information_content": 88.2}
{"id": "UniProtKB:Q9ULG3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein CFAP92 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULG3-1", "PR:Q9ULG3-1", "ENSEMBL:ENSP00000265068", "ENSEMBL:ENSP00000265068.5"], "information_content": 100.0}
{"id": "NCBIGene:51663", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFR", "equivalent_identifiers": ["NCBIGene:51663", "ENSEMBL:ENSG00000056097", "HGNC:17277", "OMIM:615635", "UMLS:C1424868", "UniProtKB:Q05D65", "UMLS:C1435165", "MESH:C485556", "UniProtKB:Q96KR1", "PR:Q96KR1", "ENSEMBL:ENSP00000265069", "ENSEMBL:ENSP00000265069.8"], "information_content": 87.2}
{"id": "NCBIGene:64083", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOLPH3", "equivalent_identifiers": ["NCBIGene:64083", "ENSEMBL:ENSG00000113384", "HGNC:15452", "OMIM:612207", "UMLS:C1423498", "UniProtKB:Q9H4A6", "PR:Q9H4A6", "ENSEMBL:ENSP00000265070", "ENSEMBL:ENSP00000265070.6", "UMLS:C1309950", "MESH:C429024"], "information_content": 95.4}
{"id": "UniProtKB:P55285-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P55285-1", "PR:P55285-1", "ENSEMBL:ENSP00000265071", "ENSEMBL:ENSP00000265071.2"], "information_content": 100.0}
{"id": "NCBIGene:10923", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUB1", "equivalent_identifiers": ["NCBIGene:10923", "ENSEMBL:ENSG00000113387", "HGNC:19985", "OMIM:600503", "UMLS:C1709390", "UniProtKB:P53999", "PR:P53999", "ENSEMBL:ENSP00000265073", "ENSEMBL:ENSP00000265073.4", "ENSEMBL:ENSP00000422078", "ENSEMBL:ENSP00000422078.1", "ENSEMBL:ENSP00000422806", "ENSEMBL:ENSP00000422806.1", "ENSEMBL:ENSP00000426850", "ENSEMBL:ENSP00000426850.1", "ENSEMBL:ENSP00000427100", "ENSEMBL:ENSP00000427100.1", "UMLS:C1702242", "MESH:C509201", "UniProtKB:Q6IBA2"], "information_content": 92.8}
{"id": "UniProtKB:P17342-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "atrial natriuretic peptide receptor 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P17342-1", "PR:P17342-1", "ENSEMBL:ENSP00000265074", "ENSEMBL:ENSP00000265074.8"], "information_content": 100.0}
{"id": "MONDO:0000480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anismus", "equivalent_identifiers": ["MONDO:0000480", "DOID:0050839", "UMLS:C0267601", "MEDDRA:10064125", "SNOMEDCT:83605009", "medgen:540810"], "information_content": 100.0}
{"id": "UniProtKB:P13611-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "versican core protein isoform hV0 (human)", "equivalent_identifiers": ["UniProtKB:P13611-1", "PR:P13611-1", "ENSEMBL:ENSP00000265077", "ENSEMBL:ENSP00000265077.3"], "information_content": 100.0}
{"id": "NCBIGene:5924", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RASGRF2", "equivalent_identifiers": ["NCBIGene:5924", "ENSEMBL:ENSG00000113319", "HGNC:9876", "OMIM:606614", "UMLS:C1419282", "UniProtKB:A0A2X0SFL3", "UniProtKB:O14827", "PR:O14827", "ENSEMBL:ENSP00000265080", "ENSEMBL:ENSP00000265080.4", "UMLS:C1611078", "MESH:C504490"], "information_content": 100.0}
{"id": "NCBIGene:4437", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MSH3", "equivalent_identifiers": ["NCBIGene:4437", "ENSEMBL:ENSG00000113318", "HGNC:7326", "OMIM:600887", "UMLS:C0879392", "UniProtKB:P20585", "PR:P20585", "ENSEMBL:ENSP00000265081", "ENSEMBL:ENSP00000265081.6", "UMLS:C0210995", "MESH:C078444"], "information_content": 95.4}
{"id": "UniProtKB:Q17RY0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoplasmic polyadenylation element-binding protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q17RY0-1", "PR:Q17RY0-1", "ENSEMBL:ENSP00000265085", "ENSEMBL:ENSP00000265085.5"], "information_content": 100.0}
{"id": "NCBIGene:8614", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STC2", "equivalent_identifiers": ["NCBIGene:8614", "ENSEMBL:ENSG00000113739", "HGNC:11374", "OMIM:603665", "UMLS:C1335878", "UniProtKB:O76061", "PR:O76061", "ENSEMBL:ENSP00000265087", "ENSEMBL:ENSP00000265087.4", "UMLS:C0758584", "UMLS:C1431513", "MESH:C114997", "UniProtKB:Q6FHC9"], "information_content": 88.2}
{"id": "UniProtKB:Q9UKB1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/WD repeat-containing protein 11 isoform C (human)", "equivalent_identifiers": ["UniProtKB:Q9UKB1-1", "PR:Q9UKB1-1", "ENSEMBL:ENSP00000265094", "ENSEMBL:ENSP00000265094.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96J01-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "THO complex subunit 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96J01-1", "PR:Q96J01-1", "ENSEMBL:ENSP00000265097", "ENSEMBL:ENSP00000265097.5"], "information_content": 100.0}
{"id": "NCBIGene:1767", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAH5", "equivalent_identifiers": ["NCBIGene:1767", "ENSEMBL:ENSG00000039139", "HGNC:2950", "OMIM:603335", "UMLS:C1414101", "UniProtKB:Q8TE73", "PR:Q8TE73", "ENSEMBL:ENSP00000265104", "ENSEMBL:ENSP00000265104.4", "UMLS:C1566617", "MESH:C497507"], "information_content": 88.2}
{"id": "NCBIGene:55100", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR70", "equivalent_identifiers": ["NCBIGene:55100", "ENSEMBL:ENSG00000082068", "HGNC:25495", "OMIM:617233", "UMLS:C1823834", "UniProtKB:Q9NW82", "PR:Q9NW82", "ENSEMBL:ENSP00000265107", "ENSEMBL:ENSP00000265107.4"], "information_content": 95.4}
{"id": "MONDO:0012833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crouzon syndrome-acanthosis nigricans syndrome", "equivalent_identifiers": ["MONDO:0012833", "DOID:0111161", "OMIM:612247", "orphanet:93262", "UMLS:C0403592", "UMLS:C2677099", "MESH:C567382", "MEDDRA:10063209", "NCIT:C38145", "SNOMEDCT:236578006", "SNOMEDCT:702361006", "medgen:394201"], "information_content": 100.0}
{"id": "UniProtKB:P43003-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "excitatory amino acid transporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43003-1", "PR:P43003-1", "ENSEMBL:ENSP00000265113", "ENSEMBL:ENSP00000265113.4", "ENSEMBL:ENSP00000371343", "ENSEMBL:ENSP00000371343.4", "ENSEMBL:ENSP00000505057", "ENSEMBL:ENSP00000505057.1", "ENSEMBL:ENSP00000505238", "ENSEMBL:ENSP00000505238.1", "ENSEMBL:ENSP00000506585", "ENSEMBL:ENSP00000506585.1"], "information_content": 100.0}
{"id": "UniProtKB:P24821-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tenascin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P24821-1", "PR:P24821-1", "ENSEMBL:ENSP00000265131", "ENSEMBL:ENSP00000265131.4"], "information_content": 100.0}
{"id": "NCBIGene:259", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AMBP", "equivalent_identifiers": ["NCBIGene:259", "ENSEMBL:ENSG00000106927", "HGNC:453", "OMIM:176870", "UMLS:C1412376", "UniProtKB:P02760", "PR:P02760", "ENSEMBL:ENSP00000265132", "ENSEMBL:ENSP00000265132.3", "UMLS:C1453156", "UMLS:C5780853", "UMLS:C5781001", "UMLS:C5781085"], "information_content": 83.1}
{"id": "NCBIGene:57561", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARRDC3", "equivalent_identifiers": ["NCBIGene:57561", "ENSEMBL:ENSG00000113369", "HGNC:29263", "OMIM:612464", "UMLS:C1428822", "UniProtKB:Q96B67", "PR:Q96B67", "ENSEMBL:ENSP00000265138", "ENSEMBL:ENSP00000265138.3", "UMLS:C1701014", "MESH:C508469"], "information_content": 95.4}
{"id": "UniProtKB:Q9BQI6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SMC5-SMC6 complex localization factor protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQI6-1", "PR:Q9BQI6-1", "ENSEMBL:ENSP00000265140", "ENSEMBL:ENSP00000265140.5"], "information_content": 100.0}
{"id": "UniProtKB:Q02224-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centromere-associated protein E isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02224-1", "PR:Q02224-1", "ENSEMBL:ENSP00000265148", "ENSEMBL:ENSP00000265148.3"], "information_content": 100.0}
{"id": "NCBIGene:2028", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ENPEP", "equivalent_identifiers": ["NCBIGene:2028", "ENSEMBL:ENSG00000138792", "HGNC:3355", "OMIM:138297", "UMLS:C1414406", "UniProtKB:Q07075", "PR:Q07075", "ENSEMBL:ENSP00000265162", "ENSEMBL:ENSP00000265162.5", "UMLS:C1611005", "MESH:C054942"], "information_content": 88.2}
{"id": "UniProtKB:P55212-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase-6 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:P55212-1", "PR:P55212-1", "ENSEMBL:ENSP00000265164", "ENSEMBL:ENSP00000265164.2"], "information_content": 92.8}
{"id": "UniProtKB:Q9UJU2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphoid enhancer-binding factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJU2-1", "PR:Q9UJU2-1", "ENSEMBL:ENSP00000265165", "ENSEMBL:ENSP00000265165.1"], "information_content": 100.0}
{"id": "UniProtKB:P01133-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pre-pro-epidermal growth factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P01133-1", "PR:P01133-1", "ENSEMBL:ENSP00000265171", "ENSEMBL:ENSP00000265171.5"], "information_content": 100.0}
{"id": "NCBIGene:9061", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAPSS1", "equivalent_identifiers": ["NCBIGene:9061", "ENSEMBL:ENSG00000138801", "HGNC:8603", "OMIM:603262", "UMLS:C1418267", "UniProtKB:O43252", "PR:O43252", "ENSEMBL:ENSP00000265174", "ENSEMBL:ENSP00000265174.4", "UMLS:C1450440"], "information_content": 88.2}
{"id": "NCBIGene:8382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NME5", "equivalent_identifiers": ["NCBIGene:8382", "ENSEMBL:ENSG00000112981", "HGNC:7853", "OMIM:603575", "UMLS:C1417744", "UniProtKB:A0A0S2Z4L9", "UMLS:C1504800", "MESH:C517948", "UniProtKB:P56597", "PR:P56597", "ENSEMBL:ENSP00000265191", "ENSEMBL:ENSP00000265191.2", "UMLS:C2985147"], "information_content": 100.0}
{"id": "NCBIGene:64374", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIL1", "equivalent_identifiers": ["NCBIGene:64374", "ENSEMBL:ENSG00000120725", "HGNC:24624", "OMIM:608005", "UMLS:C1822725", "UniProtKB:A0A0S2Z6B4", "UMLS:C0963367", "MESH:C418483", "UniProtKB:Q9H173", "PR:Q9H173", "ENSEMBL:ENSP00000265195", "ENSEMBL:ENSP00000265195.5", "ENSEMBL:ENSP00000378294", "ENSEMBL:ENSP00000378294.2", "UMLS:C2982448"], "information_content": 90.9}
{"id": "UniProtKB:Q92527-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92527-1", "PR:Q92527-1", "ENSEMBL:ENSP00000265224", "ENSEMBL:ENSP00000265224.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H095-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein regulatory complex protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H095-1", "PR:Q9H095-1", "ENSEMBL:ENSP00000265239", "ENSEMBL:ENSP00000265239.6", "ENSEMBL:ENSP00000407736", "ENSEMBL:ENSP00000407736.1"], "information_content": 100.0}
{"id": "NCBIGene:55341", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LSG1", "equivalent_identifiers": ["NCBIGene:55341", "ENSEMBL:ENSG00000041802", "HGNC:25652", "OMIM:610780", "UMLS:C1825910", "UniProtKB:Q9H089", "PR:Q9H089", "ENSEMBL:ENSP00000265245", "ENSEMBL:ENSP00000265245.5", "UMLS:C1721731", "MESH:C510283"], "information_content": 95.4}
{"id": "MONDO:0012269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 3q29 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0012269", "DOID:0060419", "OMIM:609425", "orphanet:65286", "UMLS:C2674949", "MESH:C567184", "SNOMEDCT:716456000", "medgen:393265"], "information_content": 100.0}
{"id": "UniProtKB:Q8WW12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PEST proteolytic signal-containing nuclear protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WW12-1", "PR:Q8WW12-1", "ENSEMBL:ENSP00000265260", "ENSEMBL:ENSP00000265260.3"], "information_content": 100.0}
{"id": "NCBIGene:54439", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBM27", "equivalent_identifiers": ["NCBIGene:54439", "ENSEMBL:ENSG00000091009", "HGNC:29243", "OMIM:620082", "UMLS:C1538792", "UniProtKB:Q9P2N5", "PR:Q9P2N5", "ENSEMBL:ENSP00000265271", "ENSEMBL:ENSP00000265271.5", "UMLS:C5433768", "MESH:C000709197"], "information_content": 92.8}
{"id": "MONDO:0001749", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortical senile cataract", "equivalent_identifiers": ["MONDO:0001749", "DOID:13574", "UMLS:C0154980", "MEDDRA:10011170", "SNOMEDCT:78875003", "medgen:509748", "ICD9:366.15"], "information_content": 100.0}
{"id": "NCBIGene:57678", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPAM", "equivalent_identifiers": ["NCBIGene:57678", "ENSEMBL:ENSG00000119927", "HGNC:24865", "OMIM:602395", "UMLS:C1539593", "UniProtKB:Q8N1G6", "UniProtKB:Q9HCL2", "PR:Q9HCL2", "ENSEMBL:ENSP00000265276", "ENSEMBL:ENSP00000265276.4", "UMLS:C5575688", "MESH:C000724049"], "information_content": 90.9}
{"id": "UniProtKB:Q96EA4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Spindly isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EA4-1", "PR:Q96EA4-1", "ENSEMBL:ENSP00000265295", "ENSEMBL:ENSP00000265295.4"], "information_content": 100.0}
{"id": "NCBIGene:84182", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MINDY4", "equivalent_identifiers": ["NCBIGene:84182", "ENSEMBL:ENSG00000106125", "HGNC:21916", "UMLS:C2681252", "UniProtKB:Q4G0A6", "PR:Q4G0A6", "ENSEMBL:ENSP00000265299", "ENSEMBL:ENSP00000265299.6", "UMLS:C5226205", "MESH:C000655129"], "information_content": 100.0}
{"id": "MONDO:0011143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 6", "equivalent_identifiers": ["MONDO:0011143", "DOID:0111011", "OMIM:601777", "UMLS:C1866293", "MESH:C538363", "medgen:400963"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQA5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transient receptor potential cation channel subfamily V member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQA5-1", "PR:Q9NQA5-1", "ENSEMBL:ENSP00000265310", "ENSEMBL:ENSP00000265310.1", "ENSEMBL:ENSP00000483049", "ENSEMBL:ENSP00000483049.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NP58-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family B member 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP58-1", "PR:Q9NP58-1", "ENSEMBL:ENSP00000265316", "ENSEMBL:ENSP00000265316.3"], "information_content": 100.0}
{"id": "MONDO:0007483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyschromatosis symmetrica hereditaria", "equivalent_identifiers": ["MONDO:0007483", "DOID:0060257", "OMIM:127400", "orphanet:41", "UMLS:C0406775", "MESH:C535729", "NCIT:C118435", "SNOMEDCT:239085000", "medgen:96071"], "information_content": 100.0}
{"id": "MONDO:0014234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reticulate acropigmentation of Kitamura", "equivalent_identifiers": ["MONDO:0014234", "DOID:0060258", "OMIM:615537", "orphanet:178307", "UMLS:C0406811", "SNOMEDCT:239133004", "medgen:98363"], "information_content": 100.0}
{"id": "UniProtKB:Q9BY49-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal trans-2-enoyl-CoA reductase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY49-1", "PR:Q9BY49-1", "ENSEMBL:ENSP00000265322", "ENSEMBL:ENSP00000265322.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVW4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase-like 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVW4-1", "PR:Q8IVW4-1", "ENSEMBL:ENSP00000265334", "ENSEMBL:ENSP00000265334.4"], "information_content": 100.0}
{"id": "NCBIGene:7320", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2B", "equivalent_identifiers": ["NCBIGene:7320", "ENSEMBL:ENSG00000119048", "HGNC:12473", "OMIM:179095", "UMLS:C1421272", "UniProtKB:P63146", "PR:P63146", "ENSEMBL:ENSP00000265339", "ENSEMBL:ENSP00000265339.2", "UMLS:C0526544", "MESH:C471546"], "information_content": 89.4}
{"id": "NCBIGene:5307", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PITX1", "equivalent_identifiers": ["NCBIGene:5307", "ENSEMBL:ENSG00000069011", "HGNC:9004", "OMIM:602149", "UMLS:C1418595", "UniProtKB:P78337", "PR:P78337", "ENSEMBL:ENSP00000265340", "ENSEMBL:ENSP00000265340.6", "ENSEMBL:ENSP00000427542", "ENSEMBL:ENSP00000427542.1", "UMLS:C1568668", "UniProtKB:X5D9A5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AF4/FMR2 family member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHB7-1", "PR:Q9UHB7-1", "ENSEMBL:ENSP00000265343", "ENSEMBL:ENSP00000265343.5"], "information_content": 100.0}
{"id": "MONDO:0851095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "KINSSHIP syndrome", "equivalent_identifiers": ["MONDO:0851095", "DOID:0112383", "OMIM:619297", "UMLS:C5543317", "medgen:1779339"], "information_content": 100.0}
{"id": "UniProtKB:Q9H944-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 20 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H944-1", "PR:Q9H944-1", "ENSEMBL:ENSP00000265350", "ENSEMBL:ENSP00000265350.4"], "information_content": 100.0}
{"id": "NCBIGene:57510", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XPO5", "equivalent_identifiers": ["NCBIGene:57510", "ENSEMBL:ENSG00000124571", "HGNC:17675", "OMIM:607845", "UMLS:C1425032", "UniProtKB:Q9HAV4", "PR:Q9HAV4", "ENSEMBL:ENSP00000265351", "ENSEMBL:ENSP00000265351.7", "UMLS:C1435157", "MESH:C446511"], "information_content": 85.5}
{"id": "NCBIGene:6722", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRF", "equivalent_identifiers": ["NCBIGene:6722", "ENSEMBL:ENSG00000112658", "HGNC:11291", "OMIM:600589", "UMLS:C1420400", "UniProtKB:B4DU24", "UniProtKB:P11831", "PR:P11831", "ENSEMBL:ENSP00000265354", "ENSEMBL:ENSP00000265354.4", "UMLS:C1610996", "MESH:C476858"], "information_content": 88.2}
{"id": "MONDO:0008039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tropical spastic paraparesis", "equivalent_identifiers": ["MONDO:0008039", "DOID:321", "OMIM:159580", "orphanet:289326", "EFO:0007527", "UMLS:C0030481", "MESH:D015493", "MEDDRA:10020427", "MEDDRA:10020456", "MEDDRA:10044696", "MEDDRA:10060479", "MEDDRA:10067606", "NCIT:C179058", "SNOMEDCT:714279000", "medgen:18298", "icd11.foundation:1043229589", "ICD10:G04.1"], "information_content": 100.0}
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{"id": "MONDO:0002182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "communication disorder", "equivalent_identifiers": ["MONDO:0002182", "DOID:2033", "UMLS:C0009460", "MESH:D003147", "MEDDRA:10010117", "MEDDRA:10010118", "MEDDRA:10010119", "MEDDRA:10061046", "NCIT:C2958", "SNOMEDCT:278919001", "medgen:3549", "ICD10:F80.9"], "information_content": 79.9}
{"id": "UniProtKB:O14786-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuropilin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14786-1", "PR:O14786-1", "ENSEMBL:ENSP00000265371", "ENSEMBL:ENSP00000265371.3", "ENSEMBL:ENSP00000364001", "ENSEMBL:ENSP00000364001.2"], "information_content": 90.9}
{"id": "UniProtKB:Q03060-16", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cAMP-responsive element modulator isoform h14 (human)", "equivalent_identifiers": ["UniProtKB:Q03060-16", "PR:Q03060-16", "ENSEMBL:ENSP00000265372", "ENSEMBL:ENSP00000265372.5", "ENSEMBL:ENSP00000510546", "ENSEMBL:ENSP00000510546.1"], "information_content": 100.0}
{"id": "UniProtKB:Q02410-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amyloid-beta A4 precursor protein-binding family A member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02410-1", "PR:Q02410-1", "ENSEMBL:ENSP00000265381", "ENSEMBL:ENSP00000265381.3"], "information_content": 100.0}
{"id": "UniProtKB:O14986-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14986-1", "PR:O14986-1", "ENSEMBL:ENSP00000265382", "ENSEMBL:ENSP00000265382.2"], "information_content": 100.0}
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{"id": "MONDO:0019950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy", "equivalent_identifiers": ["MONDO:0019950", "DOID:0050557", "orphanet:97242", "UMLS:C0699743", "UMLS:C2937300", "SNOMEDCT:111501005", "SNOMEDCT:240059009", "medgen:147063", "icd11.foundation:396687076", "ICD9:359.0"], "information_content": 71.6}
{"id": "NCBIGene:11112", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HIBADH", "equivalent_identifiers": ["NCBIGene:11112", "ENSEMBL:ENSG00000106049", "HGNC:4907", "OMIM:608475", "UMLS:C1415542", "UniProtKB:A0A024RA75", "UniProtKB:P31937", "PR:P31937", "ENSEMBL:ENSP00000265395", "ENSEMBL:ENSP00000265395.2"], "information_content": 95.4}
{"id": "UniProtKB:P36537-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 2B10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P36537-1", "PR:P36537-1", "ENSEMBL:ENSP00000265403", "ENSEMBL:ENSP00000265403.7", "ENSEMBL:ENSP00000478760", "ENSEMBL:ENSP00000478760.1"], "information_content": 100.0}
{"id": "NCBIGene:26228", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STAP1", "equivalent_identifiers": ["NCBIGene:26228", "ENSEMBL:ENSG00000035720", "HGNC:24133", "OMIM:604298", "UMLS:C1332447", "UniProtKB:Q9ULZ2", "PR:Q9ULZ2", "ENSEMBL:ENSP00000265404", "ENSEMBL:ENSP00000265404.2", "ENSEMBL:ENSP00000379527", "ENSEMBL:ENSP00000379527.1", "UMLS:C1438543", "MESH:C400186"], "information_content": 100.0}
{"id": "MONDO:0001336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hyperlipidemia", "equivalent_identifiers": ["MONDO:0001336", "DOID:1168", "UMLS:C0700623", "SNOMEDCT:238038003", "medgen:675194", "ICD10:E78.5"], "information_content": 80.9}
{"id": "MONDO:0011505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypobetalipoproteinemia 2", "equivalent_identifiers": ["MONDO:0011505", "DOID:0111061", "OMIM:605019", "UMLS:C1857970", "MESH:C565732", "medgen:341895"], "information_content": 100.0}
{"id": "NCBIGene:5423", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLB", "equivalent_identifiers": ["NCBIGene:5423", "ENSEMBL:ENSG00000070501", "HGNC:9174", "OMIM:174760", "UMLS:C1335230", "UniProtKB:B7Z1W5", "UniProtKB:P06746", "PR:P06746", "ENSEMBL:ENSP00000265421", "ENSEMBL:ENSP00000265421.4", "UMLS:C3853653", "MESH:C000625660"], "information_content": 89.4}
{"id": "UniProtKB:P05937-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calbindin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P05937-1", "PR:P05937-1", "ENSEMBL:ENSP00000265431", "ENSEMBL:ENSP00000265431.3"], "information_content": 100.0}
{"id": "NCBIGene:4683", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NBN", "equivalent_identifiers": ["NCBIGene:4683", "ENSEMBL:ENSG00000104320", "HGNC:7652", "OMIM:602667", "UMLS:C1334862", "UniProtKB:A0A0C4DG07", "ENSEMBL:ENSP00000386924", "ENSEMBL:ENSP00000386924.1", "ENSEMBL:ENSP00000428252", "ENSEMBL:ENSP00000428252.2", "ENSEMBL:ENSP00000429971", "ENSEMBL:ENSP00000429971.2", "ENSEMBL:ENSP00000513234", "ENSEMBL:ENSP00000513234.1", "ENSEMBL:ENSP00000513235", "ENSEMBL:ENSP00000513235.1", "UniProtKB:O60934", "PR:O60934", "ENSEMBL:ENSP00000265433", "ENSEMBL:ENSP00000265433.4", "ENSEMBL:ENSP00000513229", "ENSEMBL:ENSP00000513229.1", "ENSEMBL:ENSP00000513245", "ENSEMBL:ENSP00000513245.1", "UMLS:C0674679", "MESH:C112156"], "information_content": 88.2}
{"id": "MONDO:0024557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia-telangiectasia-like disorder 1", "equivalent_identifiers": ["MONDO:0024557", "DOID:0081384", "OMIM:604391", "orphanet:251347", "UMLS:C4012790", "NCIT:C132224", "medgen:861227"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRC1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "suppressor of tumorigenicity 7 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRC1-1", "PR:Q9NRC1-1", "ENSEMBL:ENSP00000265437", "ENSEMBL:ENSP00000265437.5"], "information_content": 100.0}
{"id": "UniProtKB:O14948-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor EC isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14948-1", "PR:O14948-1", "ENSEMBL:ENSP00000265440", "ENSEMBL:ENSP00000265440.7"], "information_content": 100.0}
{"id": "NCBIGene:7472", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT2", "equivalent_identifiers": ["NCBIGene:7472", "ENSEMBL:ENSG00000105989", "HGNC:12780", "OMIM:147870", "UMLS:C0812231", "UniProtKB:A0A384MDX3", "UniProtKB:P09544", "PR:P09544", "ENSEMBL:ENSP00000265441", "ENSEMBL:ENSP00000265441.3", "UMLS:C0123987", "MESH:C495244"], "information_content": 89.4}
{"id": "UniProtKB:Q9P2S2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurexin-2-alpha isoform a6 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2S2-1", "PR:Q9P2S2-1", "ENSEMBL:ENSP00000265459", "ENSEMBL:ENSP00000265459.5"], "information_content": 100.0}
{"id": "UniProtKB:P30044-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxiredoxin-5, mitochondrial isoform Mitochondrial (human)", "equivalent_identifiers": ["UniProtKB:P30044-1", "PR:P30044-1", "ENSEMBL:ENSP00000265462", "ENSEMBL:ENSP00000265462.4"], "information_content": 95.4}
{"id": "MONDO:0008757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alopecia universalis congenita", "equivalent_identifiers": ["MONDO:0008757", "DOID:0050634", "OMIM:203655", "orphanet:701", "UMLS:C0263505", "UMLS:C1859877", "MESH:C537055", "MEDDRA:10001767", "SNOMEDCT:86166000", "medgen:349262", "HP:0002289"], "information_content": 100.0}
{"id": "UniProtKB:Q14181-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA polymerase alpha subunit B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14181-1", "PR:Q14181-1", "ENSEMBL:ENSP00000265465", "ENSEMBL:ENSP00000265465.3"], "information_content": 100.0}
{"id": "UniProtKB:O94766-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O94766-1", "PR:O94766-1", "ENSEMBL:ENSP00000265471", "ENSEMBL:ENSP00000265471.5"], "information_content": 100.0}
{"id": "UniProtKB:Q13107-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13107-1", "PR:Q13107-1", "ENSEMBL:ENSP00000265560", "ENSEMBL:ENSP00000265560.4"], "information_content": 100.0}
{"id": "NCBIGene:25930", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTPN23", "equivalent_identifiers": ["NCBIGene:25930", "ENSEMBL:ENSG00000076201", "HGNC:14406", "OMIM:606584", "UMLS:C1422626", "UniProtKB:B4DST5", "UMLS:C1721276", "MESH:C114102", "UniProtKB:Q9H3S7", "PR:Q9H3S7", "ENSEMBL:ENSP00000265562", "ENSEMBL:ENSP00000265562.4"], "information_content": 92.8}
{"id": "UniProtKB:P13861-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cAMP-dependent protein kinase type II-alpha regulatory subunit isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13861-1", "PR:P13861-1", "ENSEMBL:ENSP00000265563", "ENSEMBL:ENSP00000265563.8", "ENSEMBL:ENSP00000394041", "ENSEMBL:ENSP00000394041.1", "ENSEMBL:ENSP00000516459", "ENSEMBL:ENSP00000516459.1"], "information_content": 100.0}
{"id": "NCBIGene:23016", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXOSC7", "equivalent_identifiers": ["NCBIGene:23016", "ENSEMBL:ENSG00000075914", "HGNC:28112", "OMIM:606488", "UMLS:C1428669", "UniProtKB:B2RDZ9", "UMLS:C3491505", "MESH:C571396", "UniProtKB:Q15024", "PR:Q15024", "ENSEMBL:ENSP00000265564", "ENSEMBL:ENSP00000265564.7"], "information_content": 89.4}
{"id": "UniProtKB:Q12770-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sterol regulatory element-binding protein cleavage-activating protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12770-1", "PR:Q12770-1", "ENSEMBL:ENSP00000265565", "ENSEMBL:ENSP00000265565.5", "ENSEMBL:ENSP00000497087", "ENSEMBL:ENSP00000497087.1"], "information_content": 100.0}
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{"id": "NCBIGene:56922", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MCCC1", "equivalent_identifiers": ["NCBIGene:56922", "ENSEMBL:ENSG00000078070", "HGNC:6936", "OMIM:609010", "UMLS:C1417066", "UniProtKB:A0A0S2Z693", "UniProtKB:E9PHF7", "ENSEMBL:ENSP00000419898", "ENSEMBL:ENSP00000419898.1", "UniProtKB:Q96RQ3", "PR:Q96RQ3", "ENSEMBL:ENSP00000265594", "ENSEMBL:ENSP00000265594.4", "UMLS:C4276584", "MESH:C000609234"], "information_content": 81.7}
{"id": "MONDO:0850094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "drug-induced hearing loss", "equivalent_identifiers": ["MONDO:0850094", "DOID:0070310"], "information_content": 100.0}
{"id": "MONDO:0000461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nutritional biotin deficiency", "equivalent_identifiers": ["MONDO:0000461", "DOID:0050810", "UMLS:C0268680", "UMLS:C3714396", "MESH:C531633", "MEDDRA:10004906", "SNOMEDCT:413652008", "SNOMEDCT:440731000124104", "SNOMEDCT:49607006", "medgen:785975"], "information_content": 89.4}
{"id": "NCBIGene:27074", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LAMP3", "equivalent_identifiers": ["NCBIGene:27074", "ENSEMBL:ENSG00000078081", "HGNC:14582", "OMIM:605883", "UMLS:C1366486", "UniProtKB:Q9UQV4", "PR:Q9UQV4", "ENSEMBL:ENSP00000265598", "ENSEMBL:ENSP00000265598.3", "UMLS:C1308703", "MESH:C114233"], "information_content": 83.1}
{"id": "UniProtKB:Q8N157-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "jouberin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N157-1", "PR:Q8N157-1", "ENSEMBL:ENSP00000265602", "ENSEMBL:ENSP00000265602.6", "ENSEMBL:ENSP00000356774", "ENSEMBL:ENSP00000356774.4", "ENSEMBL:ENSP00000388650", "ENSEMBL:ENSP00000388650.2", "ENSEMBL:ENSP00000504965", "ENSEMBL:ENSP00000504965.1", "ENSEMBL:ENSP00000505121", "ENSEMBL:ENSP00000505121.1", "ENSEMBL:ENSP00000505666", "ENSEMBL:ENSP00000505666.1", "ENSEMBL:ENSP00000506005", "ENSEMBL:ENSP00000506005.1", "ENSEMBL:ENSP00000506604", "ENSEMBL:ENSP00000506604.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2A2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-aminomuconic semialdehyde dehydrogenase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2A2-1", "PR:Q9H2A2-1", "ENSEMBL:ENSP00000265605", "ENSEMBL:ENSP00000265605.2"], "information_content": 100.0}
{"id": "NCBIGene:5446", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PON3", "equivalent_identifiers": ["NCBIGene:5446", "ENSEMBL:ENSG00000105852", "HGNC:9206", "OMIM:602720", "UMLS:C1418756", "UniProtKB:Q15166", "PR:Q15166", "ENSEMBL:ENSP00000265627", "ENSEMBL:ENSP00000265627.5", "UMLS:C1447656", "MESH:C113656"], "information_content": 89.4}
{"id": "NCBIGene:4885", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPTX2", "equivalent_identifiers": ["NCBIGene:4885", "ENSEMBL:ENSG00000106236", "HGNC:7953", "OMIM:600750", "UMLS:C1417813", "UniProtKB:P47972", "PR:P47972", "ENSEMBL:ENSP00000265634", "ENSEMBL:ENSP00000265634.3", "UMLS:C1430346"], "information_content": 95.4}
{"id": "UniProtKB:P50416-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carnitine O-palmitoyltransferase 1, liver isoform isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50416-1", "PR:P50416-1", "ENSEMBL:ENSP00000265641", "ENSEMBL:ENSP00000265641.4", "ENSEMBL:ENSP00000446108", "ENSEMBL:ENSP00000446108.1"], "information_content": 100.0}
{"id": "NCBIGene:51083", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GAL", "equivalent_identifiers": ["NCBIGene:51083", "ENSEMBL:ENSG00000069482", "HGNC:4114", "OMIM:137035", "UMLS:C1414945", "UniProtKB:P22466", "PR:P22466", "ENSEMBL:ENSP00000265643", "ENSEMBL:ENSP00000265643.3", "UMLS:C1447046", "UMLS:C5441628", "UMLS:C5441749", "UMLS:C5441968", "MESH:C056567"], "information_content": 89.4}
{"id": "UniProtKB:Q9UK99-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UK99-1", "PR:Q9UK99-1", "ENSEMBL:ENSP00000265651", "ENSEMBL:ENSP00000265651.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13488-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-type proton ATPase 116 kDa subunit a 3 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q13488-1", "PR:Q13488-1", "ENSEMBL:ENSP00000265686", "ENSEMBL:ENSP00000265686.3"], "information_content": 100.0}
{"id": "MONDO:0009031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniodiaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0009031", "DOID:0080032", "OMIM:218300", "orphanet:1513", "UMLS:C0410539", "MESH:C562940", "NCIT:C131429", "SNOMEDCT:205506004", "medgen:96080", "icd11.foundation:505073582"], "information_content": 100.0}
{"id": "UniProtKB:P35790-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choline kinase alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35790-1", "PR:P35790-1", "ENSEMBL:ENSP00000265689", "ENSEMBL:ENSP00000265689.4"], "information_content": 100.0}
{"id": "UniProtKB:Q99965-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99965-1", "PR:Q99965-1", "ENSEMBL:ENSP00000265708", "ENSEMBL:ENSP00000265708.4", "ENSEMBL:ENSP00000482337", "ENSEMBL:ENSP00000482337.1"], "information_content": 100.0}
{"id": "UniProtKB:P16157-21", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin-1 isoform hBr21 (human)", "equivalent_identifiers": ["UniProtKB:P16157-21", "PR:P16157-21", "ENSEMBL:ENSP00000265709", "ENSEMBL:ENSP00000265709.8"], "information_content": 100.0}
{"id": "NCBIGene:7994", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KAT6A", "equivalent_identifiers": ["NCBIGene:7994", "ENSEMBL:ENSG00000083168", "HGNC:13013", "OMIM:601408", "UMLS:C1421709", "UniProtKB:A5PKX7", "UMLS:C1447577", "MESH:C108712", "UniProtKB:A5PLL3", "ENSEMBL:ENSP00000430606", "ENSEMBL:ENSP00000430606.1", "UniProtKB:Q92794", "PR:Q92794", "ENSEMBL:ENSP00000265713", "ENSEMBL:ENSP00000265713.2", "ENSEMBL:ENSP00000380136", "ENSEMBL:ENSP00000380136.3", "UMLS:C2825105"], "information_content": 92.8}
{"id": "NCBIGene:5577", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRKAR2B", "equivalent_identifiers": ["NCBIGene:5577", "ENSEMBL:ENSG00000005249", "HGNC:9392", "OMIM:176912", "UMLS:C1418911", "UniProtKB:B3KY43", "UMLS:C1871084", "MESH:C517837", "UniProtKB:P31323", "PR:P31323", "ENSEMBL:ENSP00000265717", "ENSEMBL:ENSP00000265717.4"], "information_content": 95.4}
{"id": "UniProtKB:O95620-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95620-1", "PR:O95620-1", "ENSEMBL:ENSP00000265720", "ENSEMBL:ENSP00000265720.3", "ENSEMBL:ENSP00000491438", "ENSEMBL:ENSP00000491438.1"], "information_content": 100.0}
{"id": "UniProtKB:P21439-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylcholine translocator ABCB4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P21439-1", "PR:P21439-1", "ENSEMBL:ENSP00000265723", "ENSEMBL:ENSP00000265723.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9P0K1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0K1-1", "PR:Q9P0K1-1", "ENSEMBL:ENSP00000265727", "ENSEMBL:ENSP00000265727.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBU7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein DBF4 homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBU7-1", "PR:Q9UBU7-1", "ENSEMBL:ENSP00000265728", "ENSEMBL:ENSP00000265728.1"], "information_content": 100.0}
{"id": "UniProtKB:P30626-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorcin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30626-1", "PR:P30626-1", "ENSEMBL:ENSP00000265729", "ENSEMBL:ENSP00000265729.3"], "information_content": 100.0}
{"id": "NCBIGene:1021", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDK6", "equivalent_identifiers": ["NCBIGene:1021", "ENSEMBL:ENSG00000105810", "HGNC:1777", "OMIM:603368", "UMLS:C1413287", "UniProtKB:Q00534", "PR:Q00534", "ENSEMBL:ENSP00000265734", "ENSEMBL:ENSP00000265734.4", "ENSEMBL:ENSP00000397087", "ENSEMBL:ENSP00000397087.3", "UMLS:C1565313", "MESH:C495911"], "information_content": 90.9}
{"id": "MONDO:0002661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uveal disorder", "equivalent_identifiers": ["MONDO:0002661", "DOID:3480", "UMLS:C0042161", "MESH:D014603", "NCIT:C26908", "SNOMEDCT:95678007", "medgen:21804"], "information_content": 68.0}
{"id": "NCBIGene:54467", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKIB1", "equivalent_identifiers": ["NCBIGene:54467", "ENSEMBL:ENSG00000001629", "HGNC:22215", "OMIM:620069", "UMLS:C1427763", "UniProtKB:Q9P2G1", "PR:Q9P2G1", "ENSEMBL:ENSP00000265742", "ENSEMBL:ENSP00000265742.3", "UMLS:C1527955", "MESH:C492511"], "information_content": 95.4}
{"id": "UniProtKB:Q9NQW6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anillin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQW6-1", "PR:Q9NQW6-1", "ENSEMBL:ENSP00000265748", "ENSEMBL:ENSP00000265748.2"], "information_content": 100.0}
{"id": "UniProtKB:Q15056-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 4H isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q15056-1", "PR:Q15056-1", "ENSEMBL:ENSP00000265753", "ENSEMBL:ENSP00000265753.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKQ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 28 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKQ2-1", "PR:Q9UKQ2-1", "ENSEMBL:ENSP00000265769", "ENSEMBL:ENSP00000265769.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fascin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQT6-1", "PR:Q9NQT6-1", "ENSEMBL:ENSP00000265825", "ENSEMBL:ENSP00000265825.5"], "information_content": 100.0}
{"id": "UniProtKB:P24752-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetyl-CoA acetyltransferase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P24752-1", "PR:P24752-1", "ENSEMBL:ENSP00000265838", "ENSEMBL:ENSP00000265838.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N336-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ELMO domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N336-1", "PR:Q8N336-1", "ENSEMBL:ENSP00000265840", "ENSEMBL:ENSP00000265840.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exophilin-5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEV8-1", "PR:Q8NEV8-1", "ENSEMBL:ENSP00000265843", "ENSEMBL:ENSP00000265843.4"], "information_content": 100.0}
{"id": "UniProtKB:P54278-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mismatch repair endonuclease PMS2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P54278-1", "PR:P54278-1", "ENSEMBL:ENSP00000265849", "ENSEMBL:ENSP00000265849.7"], "information_content": 100.0}
{"id": "UniProtKB:Q7L5D6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi to ER traffic protein 4 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L5D6-1", "PR:Q7L5D6-1", "ENSEMBL:ENSP00000265857", "ENSEMBL:ENSP00000265857.3"], "information_content": 100.0}
{"id": "MONDO:0013871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 6", "equivalent_identifiers": ["MONDO:0013871", "DOID:0070006", "OMIM:614728", "UMLS:C3553582", "medgen:766496"], "information_content": 100.0}
{"id": "UniProtKB:P31942-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein H3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P31942-1", "PR:P31942-1", "ENSEMBL:ENSP00000265866", "ENSEMBL:ENSP00000265866.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8IX12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell division cycle and apoptosis regulator protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IX12-1", "PR:Q8IX12-1", "ENSEMBL:ENSP00000265872", "ENSEMBL:ENSP00000265872.6"], "information_content": 100.0}
{"id": "MONDO:0016367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatomyositis", "equivalent_identifiers": ["MONDO:0016367", "DOID:10223", "orphanet:221", "EFO:0000398", "UMLS:C0011633", "MESH:D003882", "MEDDRA:10012503", "NCIT:C197520", "NCIT:C26744", "SNOMEDCT:396230008", "medgen:8331", "icd11.foundation:739030149", "ICD10:M33", "ICD9:710.3"], "information_content": 82.6}
{"id": "NCBIGene:6713", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SQLE", "equivalent_identifiers": ["NCBIGene:6713", "ENSEMBL:ENSG00000104549", "HGNC:11279", "OMIM:602019", "UMLS:C1420392", "UniProtKB:Q14534", "PR:Q14534", "ENSEMBL:ENSP00000265896", "ENSEMBL:ENSP00000265896.5", "UMLS:C5773052", "MESH:C000723884"], "information_content": 95.4}
{"id": "MONDO:0024268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "superficial mycosis", "equivalent_identifiers": ["MONDO:0024268", "DOID:0050133", "UMLS:C2980104", "SNOMEDCT:276206000", "medgen:755998", "ICD10:B36.9"], "information_content": 80.6}
{"id": "UniProtKB:Q92543-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92543-1", "PR:Q92543-1", "ENSEMBL:ENSP00000265909", "ENSEMBL:ENSP00000265909.4"], "information_content": 100.0}
{"id": "MONDO:0013500", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 51", "equivalent_identifiers": ["MONDO:0013500", "DOID:0111996", "OMIM:613953", "UMLS:C4310803", "medgen:934770"], "information_content": 100.0}
{"id": "UniProtKB:O60477-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BMP/retinoic acid-inducible neural-specific protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60477-1", "PR:O60477-1", "ENSEMBL:ENSP00000265922", "ENSEMBL:ENSP00000265922.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BPZ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "target of rapamycin complex 2 subunit MAPKAP1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BPZ7-1", "PR:Q9BPZ7-1", "ENSEMBL:ENSP00000265960", "ENSEMBL:ENSP00000265960.3", "ENSEMBL:ENSP00000362597", "ENSEMBL:ENSP00000362597.1"], "information_content": 100.0}
{"id": "UniProtKB:P32780-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription factor IIH subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P32780-1", "PR:P32780-1", "ENSEMBL:ENSP00000265963", "ENSEMBL:ENSP00000265963.4", "ENSEMBL:ENSP00000393638", "ENSEMBL:ENSP00000393638.2", "ENSEMBL:ENSP00000500178", "ENSEMBL:ENSP00000500178.1", "ENSEMBL:ENSP00000500852", "ENSEMBL:ENSP00000500852.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGK8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "secretion-regulating guanine nucleotide exchange factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGK8-1", "PR:Q9UGK8-1", "ENSEMBL:ENSP00000265965", "ENSEMBL:ENSP00000265965.5"], "information_content": 100.0}
{"id": "MONDO:0010814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrodysplasia-pseudohermaphroditism syndrome", "equivalent_identifiers": ["MONDO:0010814", "DOID:0060644", "OMIM:600092", "orphanet:1422", "UMLS:C1838654", "MESH:C536123", "SNOMEDCT:720851007", "medgen:333149"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPZ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BLOC-2 complex member HPS5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPZ3-1", "PR:Q9UPZ3-1", "ENSEMBL:ENSP00000265967", "ENSEMBL:ENSP00000265967.5", "ENSEMBL:ENSP00000500370", "ENSEMBL:ENSP00000500370.1"], "information_content": 100.0}
{"id": "MONDO:0012216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome", "equivalent_identifiers": ["MONDO:0012216", "DOID:0070531", "OMIM:609218", "orphanet:397618", "UMLS:C1836603", "UMLS:C3807873", "UMLS:C5190596", "MESH:C563774", "SNOMEDCT:782754006", "medgen:814203"], "information_content": 100.0}
{"id": "MONDO:0009274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ghosal hematodiaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0009274", "DOID:0112251", "OMIM:231095", "orphanet:1802", "UMLS:C1856465", "MESH:C565551", "SNOMEDCT:389214003", "medgen:344739"], "information_content": 100.0}
{"id": "UniProtKB:P48547-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated potassium channel KCNC1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P48547-2", "PR:P48547-2", "ENSEMBL:ENSP00000265969", "ENSEMBL:ENSP00000265969.7", "ENSEMBL:ENSP00000491644", "ENSEMBL:ENSP00000491644.2"], "information_content": 100.0}
{"id": "UniProtKB:O00443-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00443-1", "PR:O00443-1", "ENSEMBL:ENSP00000265970", "ENSEMBL:ENSP00000265970.6", "ENSEMBL:ENSP00000509400", "ENSEMBL:ENSP00000509400.1"], "information_content": 100.0}
{"id": "MONDO:0019444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichinellosis", "equivalent_identifiers": ["MONDO:0019444", "DOID:9784", "orphanet:863", "EFO:0007520", "UMLS:C0040896", "MESH:D014235", "MEDDRA:10044608", "MEDDRA:10044609", "NCIT:C85199", "SNOMEDCT:709018004", "medgen:21645", "icd11.foundation:284613639", "ICD10:B75", "ICD9:124"], "information_content": 95.4}
{"id": "MONDO:0006903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroneal nerve paralysis", "equivalent_identifiers": ["MONDO:0006903", "DOID:6925", "EFO:1001102", "UMLS:C0270810", "UMLS:C1275816", "UMLS:C1384669", "MEDDRA:10033563", "MEDDRA:10033828", "MEDDRA:10034701", "NCIT:C27061", "SNOMEDCT:399088004", "medgen:78733"], "information_content": 100.0}
{"id": "UniProtKB:Q8N612-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FHF complex subunit HOOK-interacting protein 1B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N612-2", "PR:Q8N612-2", "ENSEMBL:ENSP00000265978", "ENSEMBL:ENSP00000265978.4"], "information_content": 100.0}
{"id": "NCBIGene:3263", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HPX", "equivalent_identifiers": ["NCBIGene:3263", "ENSEMBL:ENSG00000110169", "HGNC:5171", "OMIM:142290", "UMLS:C1415712", "UniProtKB:P02790", "PR:P02790", "ENSEMBL:ENSP00000265983", "ENSEMBL:ENSP00000265983.3", "UMLS:C5441709", "UniProtKB:Q9BS19"], "information_content": 73.7}
{"id": "UniProtKB:P14735-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "insulin-degrading enzyme isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P14735-1", "PR:P14735-1", "ENSEMBL:ENSP00000265986", "ENSEMBL:ENSP00000265986.6"], "information_content": 100.0}
{"id": "UniProtKB:O14981-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TATA-binding protein-associated factor 172 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14981-1", "PR:O14981-1", "ENSEMBL:ENSP00000265990", "ENSEMBL:ENSP00000265990.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8NE35-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoplasmic polyadenylation element-binding protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NE35-1", "PR:Q8NE35-1", "ENSEMBL:ENSP00000265997", "ENSEMBL:ENSP00000265997.4", "ENSEMBL:ENSP00000482128", "ENSEMBL:ENSP00000482128.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UER7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "death domain-associated protein 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UER7-1", "PR:Q9UER7-1", "ENSEMBL:ENSP00000266000", "ENSEMBL:ENSP00000266000.6", "ENSEMBL:ENSP00000363668", "ENSEMBL:ENSP00000363668.5", "ENSEMBL:ENSP00000372539", "ENSEMBL:ENSP00000372539.4", "ENSEMBL:ENSP00000372681", "ENSEMBL:ENSP00000372681.4", "ENSEMBL:ENSP00000382014", "ENSEMBL:ENSP00000382014.3", "ENSEMBL:ENSP00000382281", "ENSEMBL:ENSP00000382281.3", "ENSEMBL:ENSP00000394108", "ENSEMBL:ENSP00000394108.2", "ENSEMBL:ENSP00000404376", "ENSEMBL:ENSP00000404376.2", "ENSEMBL:ENSP00000404623", "ENSEMBL:ENSP00000404623.1", "ENSEMBL:ENSP00000410772", "ENSEMBL:ENSP00000410772.2"], "information_content": 100.0}
{"id": "MONDO:0010328", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-thalassemia-myelodysplastic syndrome", "equivalent_identifiers": ["MONDO:0010328", "DOID:0112125", "OMIM:300448", "orphanet:231401", "UMLS:C0585216", "MESH:C563023", "SNOMEDCT:307343001", "medgen:108433"], "information_content": 100.0}
{"id": "UniProtKB:Q68CQ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycosyltransferase 8 domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q68CQ7-1", "PR:Q68CQ7-1", "ENSEMBL:ENSP00000266014", "ENSEMBL:ENSP00000266014.5", "ENSEMBL:ENSP00000378263", "ENSEMBL:ENSP00000378263.3", "ENSEMBL:ENSP00000418853", "ENSEMBL:ENSP00000418853.1", "ENSEMBL:ENSP00000419612", "ENSEMBL:ENSP00000419612.2"], "information_content": 100.0}
{"id": "UniProtKB:P78332-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78332-1", "PR:P78332-1", "ENSEMBL:ENSP00000266022", "ENSEMBL:ENSP00000266022.4"], "information_content": 100.0}
{"id": "NCBIGene:11070", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM115", "equivalent_identifiers": ["NCBIGene:11070", "ENSEMBL:ENSG00000126062", "HGNC:30055", "OMIM:607069", "UMLS:C1823376", "UniProtKB:A0A024R2Y2", "UMLS:C2351343", "MESH:C526513", "UniProtKB:Q12893", "PR:Q12893", "ENSEMBL:ENSP00000266025", "ENSEMBL:ENSP00000266025.3"], "information_content": 100.0}
{"id": "MONDO:0001621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tick-borne relapsing fever", "equivalent_identifiers": ["MONDO:0001621", "DOID:13036", "UMLS:C0035022", "MEDDRA:10038302", "MEDDRA:10043843", "NCIT:C34976", "SNOMEDCT:10301003", "medgen:20515", "icd11.foundation:923521593", "ICD10:A68.1", "ICD9:087.1"], "information_content": 100.0}
{"id": "MONDO:0001620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "louse-borne relapsing fever", "equivalent_identifiers": ["MONDO:0001620", "DOID:13035", "UMLS:C0152061", "MEDDRA:10006037", "MEDDRA:10024889", "MEDDRA:10038301", "NCIT:C128426", "SNOMEDCT:14683004", "medgen:508863", "icd11.foundation:1379934125", "ICD10:A68.0", "ICD9:087.0"], "information_content": 100.0}
{"id": "UniProtKB:Q12794-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hyaluronidase-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12794-1", "PR:Q12794-1", "ENSEMBL:ENSP00000266031", "ENSEMBL:ENSP00000266031.4", "ENSEMBL:ENSP00000346068", "ENSEMBL:ENSP00000346068.5", "ENSEMBL:ENSP00000378576", "ENSEMBL:ENSP00000378576.2", "ENSEMBL:ENSP00000477903", "ENSEMBL:ENSP00000477903.1"], "information_content": 100.0}
{"id": "NCBIGene:1795", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DOCK3", "equivalent_identifiers": ["NCBIGene:1795", "ENSEMBL:ENSG00000088538", "HGNC:2989", "OMIM:603123", "UMLS:C1414129", "UniProtKB:Q8IZD9", "PR:Q8IZD9", "ENSEMBL:ENSP00000266037", "ENSEMBL:ENSP00000266037.8", "UMLS:C1505199", "MESH:C485840"], "information_content": 95.4}
{"id": "MONDO:0010679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duchenne muscular dystrophy", "equivalent_identifiers": ["MONDO:0010679", "DOID:11723", "OMIM:310200", "orphanet:98896", "UMLS:C0013264", "MESH:D020388", "MEDDRA:10013801", "NCIT:C75482", "SNOMEDCT:76670001", "medgen:3925", "icd11.foundation:1479561744"], "information_content": 100.0}
{"id": "UniProtKB:Q14624-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inter-alpha-trypsin inhibitor heavy chain H4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14624-1", "PR:Q14624-1", "ENSEMBL:ENSP00000266041", "ENSEMBL:ENSP00000266041.4"], "information_content": 100.0}
{"id": "UniProtKB:O75093-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "slit homolog 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75093-1", "PR:O75093-1", "ENSEMBL:ENSP00000266058", "ENSEMBL:ENSP00000266058.4"], "information_content": 100.0}
{"id": "NCBIGene:6425", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SFRP5", "equivalent_identifiers": ["NCBIGene:6425", "ENSEMBL:ENSG00000120057", "HGNC:10779", "OMIM:604158", "UMLS:C1419988", "UniProtKB:Q5T4F7", "PR:Q5T4F7", "ENSEMBL:ENSP00000266066", "ENSEMBL:ENSP00000266066.3", "UMLS:C0765997", "UMLS:C3543416", "MESH:C118511"], "information_content": 100.0}
{"id": "NCBIGene:54994", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GID8", "equivalent_identifiers": ["NCBIGene:54994", "ENSEMBL:ENSG00000101193", "HGNC:15857", "OMIM:611625", "UMLS:C1423779", "UniProtKB:Q9NWU2", "PR:Q9NWU2", "ENSEMBL:ENSP00000266069", "ENSEMBL:ENSP00000266069.3", "UMLS:C1175138", "MESH:C472382"], "information_content": 95.4}
{"id": "UniProtKB:Q9BTC0-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "death-inducer obliterator 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTC0-4", "PR:Q9BTC0-4", "ENSEMBL:ENSP00000266070", "ENSEMBL:ENSP00000266070.4", "ENSEMBL:ENSP00000378752", "ENSEMBL:ENSP00000378752.1"], "information_content": 100.0}
{"id": "UniProtKB:O94906-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pre-mRNA-processing factor 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O94906-1", "PR:O94906-1", "ENSEMBL:ENSP00000266079", "ENSEMBL:ENSP00000266079.4"], "information_content": 100.0}
{"id": "NCBIGene:7078", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMP3", "equivalent_identifiers": ["NCBIGene:7078", "ENSEMBL:ENSG00000100234", "HGNC:11822", "OMIM:188826", "UMLS:C1336630", "UniProtKB:P35625", "PR:P35625", "ENSEMBL:ENSP00000266085", "ENSEMBL:ENSP00000266085.5", "UMLS:C1527365", "MESH:C088390"], "information_content": 82.6}
{"id": "NCBIGene:6527", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC5A4", "equivalent_identifiers": ["NCBIGene:6527", "ENSEMBL:ENSG00000100191", "HGNC:11039", "OMIM:618633", "UMLS:C1420203", "UniProtKB:Q9NY91", "PR:Q9NY91", "ENSEMBL:ENSP00000266086", "ENSEMBL:ENSP00000266086.3", "UMLS:C1504806", "MESH:C490298"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3I1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3I1-1", "PR:Q9Y3I1-1", "ENSEMBL:ENSP00000266087", "ENSEMBL:ENSP00000266087.7"], "information_content": 100.0}
{"id": "MONDO:0012166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant sensory ataxia 1", "equivalent_identifiers": ["MONDO:0012166", "DOID:0111170", "OMIM:608984", "UMLS:C1837015", "MESH:C563818", "medgen:332346"], "information_content": 100.0}
{"id": "UniProtKB:P13866-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/glucose cotransporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13866-1", "PR:P13866-1", "ENSEMBL:ENSP00000266088", "ENSEMBL:ENSP00000266088.4"], "information_content": 100.0}
{"id": "MONDO:0007019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvovaginitis", "equivalent_identifiers": ["MONDO:0007019", "DOID:2273", "EFO:1001240", "UMLS:C0042998", "MESH:D014848", "MEDDRA:10047794", "MEDDRA:10047798", "NCIT:C35131", "SNOMEDCT:53277000", "medgen:12129", "ICD10:N76.0"], "information_content": 89.4}
{"id": "MONDO:0001618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "balanoposthitis", "equivalent_identifiers": ["MONDO:0001618", "DOID:13031", "UMLS:C0004691", "MEDDRA:10004078", "MEDDRA:10087511", "SNOMEDCT:46090001", "medgen:507475", "icd11.foundation:1742248014", "ICD10:N47.6", "ICD9:607.1"], "information_content": 95.4}
{"id": "NCBIGene:8892", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF2B2", "equivalent_identifiers": ["NCBIGene:8892", "ENSEMBL:ENSG00000119718", "HGNC:3258", "OMIM:606454", "UMLS:C1414328", "UniProtKB:P49770", "PR:P49770", "ENSEMBL:ENSP00000266126", "ENSEMBL:ENSP00000266126.5", "UMLS:C5441976", "UniProtKB:Q53XC2"], "information_content": 90.9}
{"id": "UniProtKB:O95922-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyglutamylase complex subunit TTLL1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:O95922-1", "PR:O95922-1", "ENSEMBL:ENSP00000266254", "ENSEMBL:ENSP00000266254.7"], "information_content": 100.0}
{"id": "MONDO:0001491", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cough variant asthma", "equivalent_identifiers": ["MONDO:0001491", "DOID:12323", "UMLS:C0694548", "MESH:D000096823", "MEDDRA:10063076", "NCIT:C197887", "SNOMEDCT:409663006", "medgen:675053", "icd11.foundation:1466639844", "ICD10:J45.991", "ICD9:493.82"], "information_content": 100.0}
{"id": "UniProtKB:Q9UDX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial fission process protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UDX5-1", "PR:Q9UDX5-1", "ENSEMBL:ENSP00000266263", "ENSEMBL:ENSP00000266263.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9HBE1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POZ-, AT hook-, and zinc finger-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBE1-1", "PR:Q9HBE1-1", "ENSEMBL:ENSP00000266269", "ENSEMBL:ENSP00000266269.5"], "information_content": 100.0}
{"id": "MONDO:0002380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoepithelioma", "equivalent_identifiers": ["MONDO:0002380", "DOID:2661", "UMLS:C0027070", "UMLS:C1947949", "MESH:D009208", "NCIT:C40392", "NCIT:C7442", "SNOMEDCT:1295245001", "SNOMEDCT:69291002", "medgen:10235"], "information_content": 77.8}
{"id": "MONDO:0017881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kyasanur forest disease", "equivalent_identifiers": ["MONDO:0017881", "DOID:11320", "orphanet:319254", "UMLS:C0022810", "MESH:D007733", "MEDDRA:10023505", "SNOMEDCT:23097003", "medgen:5982", "icd11.foundation:1288604967", "ICD10:A98.2", "ICD9:065.2"], "information_content": 95.4}
{"id": "UniProtKB:Q10587-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thyrotroph embryonic factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q10587-1", "PR:Q10587-1", "ENSEMBL:ENSP00000266304", "ENSEMBL:ENSP00000266304.4"], "information_content": 100.0}
{"id": "UniProtKB:Q13936-11", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent L-type calcium channel subunit alpha-1C isoform h11 (human)", "equivalent_identifiers": ["UniProtKB:Q13936-11", "PR:Q13936-11", "ENSEMBL:ENSP00000266376", "ENSEMBL:ENSP00000266376.6", "ENSEMBL:ENSP00000494095", "ENSEMBL:ENSP00000494095.1"], "information_content": 100.0}
{"id": "NCBIGene:283358", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B4GALNT3", "equivalent_identifiers": ["NCBIGene:283358", "ENSEMBL:ENSG00000139044", "HGNC:24137", "OMIM:612220", "UMLS:C1825859", "UniProtKB:Q6L9W6", "PR:Q6L9W6", "ENSEMBL:ENSP00000266383", "ENSEMBL:ENSP00000266383.5", "UMLS:C1433328", "MESH:C480161", "UniProtKB:Q8N9V0"], "information_content": 95.4}
{"id": "MONDO:0003335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic polyneuropathy", "equivalent_identifiers": ["MONDO:0003335", "DOID:5221", "UMLS:C1167650", "MEDDRA:10036107", "MEDDRA:10064135", "NCIT:C36071", "medgen:223911"], "information_content": 89.4}
{"id": "NCBIGene:5149", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDE6H", "equivalent_identifiers": ["NCBIGene:5149", "ENSEMBL:ENSG00000139053", "HGNC:8790", "OMIM:601190", "UMLS:C1418430", "UniProtKB:Q13956", "PR:Q13956", "ENSEMBL:ENSP00000266395", "ENSEMBL:ENSP00000266395.2", "UMLS:C3529549", "MESH:C576560"], "information_content": 100.0}
{"id": "NCBIGene:121506", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERP27", "equivalent_identifiers": ["NCBIGene:121506", "ENSEMBL:ENSG00000139055", "HGNC:26495", "OMIM:610642", "UMLS:C1824367", "UniProtKB:F5GYS6", "ENSEMBL:ENSP00000440573", "ENSEMBL:ENSP00000440573.1", "UniProtKB:Q96DN0", "PR:Q96DN0", "ENSEMBL:ENSP00000266397", "ENSEMBL:ENSP00000266397.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8WYA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "basic helix-loop-helix ARNT-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYA1-1", "PR:Q8WYA1-1", "ENSEMBL:ENSP00000266503", "ENSEMBL:ENSP00000266503.5"], "information_content": 100.0}
{"id": "MONDO:0001339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "portal vein thrombosis", "equivalent_identifiers": ["MONDO:0001339", "DOID:11695", "UMLS:C0155773", "MEDDRA:10036206", "MEDDRA:10037611", "MEDDRA:10043633", "NCIT:C78565", "SNOMEDCT:17920008", "medgen:56372", "icd11.foundation:866276949", "ICD10:I81", "ICD9:452", "HP:0030242"], "information_content": 100.0}
{"id": "MONDO:0004694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatopulmonary syndrome", "equivalent_identifiers": ["MONDO:0004694", "DOID:900", "EFO:1001346", "UMLS:C0600452", "MESH:D020065", "MEDDRA:10052274", "NCIT:C197912", "SNOMEDCT:371067004", "medgen:109071", "icd11.foundation:866605228", "ICD10:K76.81", "ICD9:573.5"], "information_content": 100.0}
{"id": "UniProtKB:Q86YW0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YW0-1", "PR:Q86YW0-1", "ENSEMBL:ENSP00000266505", "ENSEMBL:ENSP00000266505.7"], "information_content": 100.0}
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{"id": "MONDO:0001228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conjunctival folliculosis", "equivalent_identifiers": ["MONDO:0001228", "DOID:11219", "UMLS:C0155143", "MEDDRA:10000749", "SNOMEDCT:41308008", "medgen:509806", "ICD10:H10.01", "ICD9:372.02"], "information_content": 100.0}
{"id": "NCBIGene:4704", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFA9", "equivalent_identifiers": ["NCBIGene:4704", "ENSEMBL:ENSG00000139180", "HGNC:7693", "OMIM:603834", "UMLS:C1417630", "UniProtKB:Q16795", "PR:Q16795", "ENSEMBL:ENSP00000266544", "ENSEMBL:ENSP00000266544.5", "UMLS:C3491278", "MESH:C571164"], "information_content": 92.8}
{"id": "UniProtKB:Q9BQT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calsyntenin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQT9-1", "PR:Q9BQT9-1", "ENSEMBL:ENSP00000266546", "ENSEMBL:ENSP00000266546.6", "ENSEMBL:ENSP00000500510", "ENSEMBL:ENSP00000500510.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96E93-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "killer cell lectin-like receptor subfamily G member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96E93-1", "PR:Q96E93-1", "ENSEMBL:ENSP00000266551", "ENSEMBL:ENSP00000266551.4"], "information_content": 100.0}
{"id": "NCBIGene:939", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD27", "equivalent_identifiers": ["NCBIGene:939", "ENSEMBL:ENSG00000139193", "HGNC:11922", "OMIM:186711", "UMLS:C1824668", "UniProtKB:P26842", "PR:P26842", "ENSEMBL:ENSP00000266557", "ENSEMBL:ENSP00000266557.3", "UMLS:C4721547"], "information_content": 80.6}
{"id": "NCBIGene:83758", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBP5", "equivalent_identifiers": ["NCBIGene:83758", "ENSEMBL:ENSG00000139194", "HGNC:15847", "OMIM:611866", "UMLS:C1423770", "UniProtKB:P82980", "PR:P82980", "ENSEMBL:ENSP00000266560", "ENSEMBL:ENSP00000266560.3", "ENSEMBL:ENSP00000500050", "ENSEMBL:ENSP00000500050.1", "UMLS:C2351808", "MESH:C526967"], "information_content": 88.2}
{"id": "MONDO:0007130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital total pulmonary venous return anomaly", "equivalent_identifiers": ["MONDO:0007130", "DOID:4297", "OMIM:106700", "orphanet:99125", "UMLS:C4551903", "UMLS:C4551904", "MEDDRA:10044081", "NCIT:C98585", "SNOMEDCT:111323005", "medgen:1648157", "icd11.foundation:1532925990", "HP:0005160"], "information_content": 89.4}
{"id": "NCBIGene:55089", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC38A4", "equivalent_identifiers": ["NCBIGene:55089", "ENSEMBL:ENSG00000139209", "HGNC:14679", "OMIM:608065", "UMLS:C1422835", "UniProtKB:Q969I6", "PR:Q969I6", "ENSEMBL:ENSP00000266579", "ENSEMBL:ENSP00000266579.4", "ENSEMBL:ENSP00000389843", "ENSEMBL:ENSP00000389843.1", "UMLS:C1682314", "MESH:C507352"], "information_content": 90.9}
{"id": "NCBIGene:347902", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AMIGO2", "equivalent_identifiers": ["NCBIGene:347902", "ENSEMBL:ENSG00000139211", "HGNC:24073", "OMIM:615690", "UMLS:C1823185", "UniProtKB:Q86SJ2", "PR:Q86SJ2", "ENSEMBL:ENSP00000266581", "ENSEMBL:ENSP00000266581.4", "ENSEMBL:ENSP00000406020", "ENSEMBL:ENSP00000406020.1", "ENSEMBL:ENSP00000449034", "ENSEMBL:ENSP00000449034.1", "UMLS:C1260126", "MESH:C476131"], "information_content": 95.4}
{"id": "UniProtKB:Q86YJ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase MARCHF9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YJ5-1", "PR:Q86YJ5-1", "ENSEMBL:ENSP00000266643", "ENSEMBL:ENSP00000266643.5"], "information_content": 100.0}
{"id": "MONDO:0010386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 33", "equivalent_identifiers": ["MONDO:0010386", "DOID:0112003", "OMIM:300636", "orphanet:319612", "UMLS:C1845117", "UMLS:C1970879", "MESH:C536289", "medgen:370376"], "information_content": 100.0}
{"id": "NCBIGene:83729", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INHBE", "equivalent_identifiers": ["NCBIGene:83729", "ENSEMBL:ENSG00000139269", "HGNC:24029", "OMIM:612031", "UMLS:C1428338", "UniProtKB:P58166", "PR:P58166", "ENSEMBL:ENSP00000266646", "ENSEMBL:ENSP00000266646.2", "UMLS:C1608817", "MESH:C504183"], "information_content": 92.8}
{"id": "UniProtKB:P48060-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glioma pathogenesis-related protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48060-1", "PR:P48060-1", "ENSEMBL:ENSP00000266659", "ENSEMBL:ENSP00000266659.3"], "information_content": 100.0}
{"id": "MONDO:0009070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "D-glyceric aciduria", "equivalent_identifiers": ["MONDO:0009070", "DOID:0111626", "OMIM:220120", "orphanet:941", "UMLS:C0342765", "UMLS:C1291386", "UMLS:C3887877", "MESH:C535767", "NCIT:C128804", "SNOMEDCT:124323007", "SNOMEDCT:237980004", "medgen:452447", "ICD10:E72.59"], "information_content": 100.0}
{"id": "NCBIGene:22822", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHLDA1", "equivalent_identifiers": ["NCBIGene:22822", "ENSEMBL:ENSG00000139289", "HGNC:8933", "OMIM:605335", "UMLS:C1418540", "UniProtKB:Q8WV24", "PR:Q8WV24", "ENSEMBL:ENSP00000266671", "ENSEMBL:ENSP00000266671.5", "UMLS:C1452518", "MESH:C491923"], "information_content": 90.9}
{"id": "UniProtKB:O75473-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing G-protein coupled receptor 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75473-1", "PR:O75473-1", "ENSEMBL:ENSP00000266674", "ENSEMBL:ENSP00000266674.4"], "information_content": 100.0}
{"id": "UniProtKB:Q16630-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cleavage and polyadenylation specificity factor subunit 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16630-2", "PR:Q16630-2", "ENSEMBL:ENSP00000266679", "ENSEMBL:ENSP00000266679.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2J7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium-dependent neutral amino acid transporter B(0)AT2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2J7-1", "PR:Q9H2J7-1", "ENSEMBL:ENSP00000266682", "ENSEMBL:ENSP00000266682.5", "ENSEMBL:ENSP00000505286", "ENSEMBL:ENSP00000505286.1", "ENSEMBL:ENSP00000505485", "ENSEMBL:ENSP00000505485.1", "ENSEMBL:ENSP00000505789", "ENSEMBL:ENSP00000505789.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZXV5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein O-mannosyl-transferase TMTC3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZXV5-2", "PR:Q6ZXV5-2", "ENSEMBL:ENSP00000266712", "ENSEMBL:ENSP00000266712.6"], "information_content": 100.0}
{"id": "NCBIGene:4060", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LUM", "equivalent_identifiers": ["NCBIGene:4060", "ENSEMBL:ENSG00000139329", "HGNC:6724", "OMIM:600616", "UMLS:C1416936", "UniProtKB:A0A384N669", "UniProtKB:P51884", "PR:P51884", "ENSEMBL:ENSP00000266718", "ENSEMBL:ENSP00000266718.4", "UMLS:C1701537", "MESH:C000604306"], "information_content": 79.9}
{"id": "NCBIGene:11081", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KERA", "equivalent_identifiers": ["NCBIGene:11081", "ENSEMBL:ENSG00000139330", "HGNC:6309", "OMIM:603288", "UMLS:C1416626", "UniProtKB:O60938", "PR:O60938", "ENSEMBL:ENSP00000266719", "ENSEMBL:ENSP00000266719.3", "UMLS:C1454851", "MESH:C490948"], "information_content": 92.8}
{"id": "MONDO:0001515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal degeneration", "equivalent_identifiers": ["MONDO:0001515", "DOID:1237", "UMLS:C0155118", "MEDDRA:10010996", "MEDDRA:10010997", "SNOMEDCT:111521006", "medgen:56352", "icd11.foundation:699504167", "ICD10:H18.4", "ICD9:371.4", "HP:0007705"], "information_content": 87.2}
{"id": "UniProtKB:P42166-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lamina-associated polypeptide 2 isoform alpha (human)", "equivalent_identifiers": ["UniProtKB:P42166-1", "PR:P42166-1", "ENSEMBL:ENSP00000266732", "ENSEMBL:ENSP00000266732.4"], "information_content": 95.4}
{"id": "NCBIGene:6636", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNRPF", "equivalent_identifiers": ["NCBIGene:6636", "ENSEMBL:ENSG00000139343", "HGNC:11162", "OMIM:603541", "UMLS:C1420293", "UniProtKB:P62306", "PR:P62306", "ENSEMBL:ENSP00000266735", "ENSEMBL:ENSP00000266735.5", "UMLS:C1700794", "MESH:C526414"], "information_content": 90.9}
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{"id": "MONDO:0006523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrodermatitis", "equivalent_identifiers": ["MONDO:0006523", "DOID:2722", "EFO:1000664", "UMLS:C0001197", "MESH:D000169", "MEDDRA:10000593", "NCIT:C84532", "SNOMEDCT:8197001", "medgen:1301"], "information_content": 95.4}
{"id": "UniProtKB:Q15633-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RISC-loading complex subunit TARBP2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15633-1", "PR:Q15633-1", "ENSEMBL:ENSP00000266987", "ENSEMBL:ENSP00000266987.2"], "information_content": 100.0}
{"id": "UniProtKB:O15130-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pro-FMRFamide-related neuropeptide FF isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15130-1", "PR:O15130-1", "ENSEMBL:ENSP00000267017", "ENSEMBL:ENSP00000267017.3"], "information_content": 100.0}
{"id": "UniProtKB:P26010-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin beta-7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P26010-1", "PR:P26010-1", "ENSEMBL:ENSP00000267082", "ENSEMBL:ENSP00000267082.4", "ENSEMBL:ENSP00000408741", "ENSEMBL:ENSP00000408741.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y600-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine sulfinic acid decarboxylase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y600-3", "PR:Q9Y600-3", "ENSEMBL:ENSP00000267085", "ENSEMBL:ENSP00000267085.3"], "information_content": 100.0}
{"id": "UniProtKB:P21860-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor tyrosine-protein kinase erbB-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P21860-1", "PR:P21860-1", "ENSEMBL:ENSP00000267101", "ENSEMBL:ENSP00000267101.4"], "information_content": 92.8}
{"id": "MONDO:0850129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastroesophageal cancer", "equivalent_identifiers": ["MONDO:0850129", "DOID:0080374", "UMLS:C0346619", "MEDDRA:10056267", "MEDDRA:10062878", "SNOMEDCT:187734007", "medgen:577508"], "information_content": 100.0}
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{"id": "UniProtKB:Q6UX01-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein LMBR1L isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UX01-1", "PR:Q6UX01-1", "ENSEMBL:ENSP00000267102", "ENSEMBL:ENSP00000267102.8"], "information_content": 100.0}
{"id": "NCBIGene:60314", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYG1", "equivalent_identifiers": ["NCBIGene:60314", "ENSEMBL:ENSG00000139637", "HGNC:17590", "OMIM:611366", "UMLS:C1425007", "UniProtKB:Q9HB07", "PR:Q9HB07", "ENSEMBL:ENSP00000267103", "ENSEMBL:ENSP00000267103.5", "ENSEMBL:ENSP00000517432", "ENSEMBL:ENSP00000517432.1", "UMLS:C1870336", "MESH:C515548"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSJ8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "extended synaptotagmin-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSJ8-2", "PR:Q9BSJ8-2", "ENSEMBL:ENSP00000267113", "ENSEMBL:ENSP00000267113.4"], "information_content": 100.0}
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{"id": "NCBIGene:112802", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT71", "equivalent_identifiers": ["NCBIGene:112802", "ENSEMBL:ENSG00000139648", "HGNC:28927", "OMIM:608245", "UMLS:C1825759", "UniProtKB:Q3SY84", "PR:Q3SY84", "ENSEMBL:ENSP00000267119", "ENSEMBL:ENSP00000267119.5", "UMLS:C1612124", "MESH:C456200"], "information_content": 95.4}
{"id": "NCBIGene:5925", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RB1", "equivalent_identifiers": ["NCBIGene:5925", "ENSEMBL:ENSG00000139687", "HGNC:9884", "OMIM:614041", "UMLS:C0694889", "UniProtKB:A0A2R8YFL6", "ENSEMBL:ENSP00000496556", "ENSEMBL:ENSP00000496556.1", "UniProtKB:A0A3B3IS71", "ENSEMBL:ENSP00000497193", "ENSEMBL:ENSP00000497193.1", "UniProtKB:P06400", "PR:P06400", "ENSEMBL:ENSP00000267163", "ENSEMBL:ENSP00000267163.4", "UMLS:C4308074", "MESH:C000606393"], "information_content": 65.2}
{"id": "NCBIGene:65082", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VPS33A", "equivalent_identifiers": ["NCBIGene:65082", "ENSEMBL:ENSG00000139719", "HGNC:18179", "OMIM:610034", "UMLS:C1425364", "UniProtKB:F5H6Y0", "ENSEMBL:ENSP00000442951", "ENSEMBL:ENSP00000442951.1", "UniProtKB:Q96AX1", "PR:Q96AX1", "ENSEMBL:ENSP00000267199", "ENSEMBL:ENSP00000267199.3", "UMLS:C0965634", "MESH:C424440"], "information_content": 92.8}
{"id": "UniProtKB:Q9HBH0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho-related GTP-binding protein RhoF isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBH0-1", "PR:Q9HBH0-1", "ENSEMBL:ENSP00000267205", "ENSEMBL:ENSP00000267205.2"], "information_content": 100.0}
{"id": "MONDO:0017882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Omsk hemorrhagic fever", "equivalent_identifiers": ["MONDO:0017882", "DOID:992", "orphanet:319266", "UMLS:C0019103", "MESH:D006481", "MEDDRA:10030310", "MEDDRA:10030311", "SNOMEDCT:48113006", "medgen:9212", "icd11.foundation:946068954", "ICD10:A98.1", "ICD9:065.1"], "information_content": 100.0}
{"id": "UniProtKB:P49023-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paxillin isoform Gamma (human)", "equivalent_identifiers": ["UniProtKB:P49023-3", "PR:P49023-3", "ENSEMBL:ENSP00000267257", "ENSEMBL:ENSP00000267257.7"], "information_content": 100.0}
{"id": "NCBIGene:84530", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRRM4", "equivalent_identifiers": ["NCBIGene:84530", "ENSEMBL:ENSG00000139767", "HGNC:29389", "OMIM:613103", "UMLS:C1825702", "UniProtKB:A7MD48", "PR:A7MD48", "ENSEMBL:ENSP00000267260", "ENSEMBL:ENSP00000267260.4", "UMLS:C4042563", "MESH:C000595377", "UniProtKB:V5T9A0"], "information_content": 95.4}
{"id": "MONDO:0000402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "small cell carcinoma", "equivalent_identifiers": ["MONDO:0000402", "DOID:0050685", "EFO:0008524", "UMLS:C0262584", "UMLS:C0334239", "MESH:D018288", "MEDDRA:10029882", "MEDDRA:10041056", "NCIT:C3915", "NCIT:C4099", "SNOMEDCT:11010461000119101", "SNOMEDCT:74364000", "medgen:90748"], "information_content": 68.5}
{"id": "MONDO:0002120", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroendocrine carcinoma", "equivalent_identifiers": ["MONDO:0002120", "DOID:1800", "UMLS:C0206695", "MESH:D018278", "MEDDRA:10057270", "NCIT:C3773", "SNOMEDCT:1286767006", "SNOMEDCT:253000007", "medgen:104919"], "information_content": 61.6}
{"id": "NCBIGene:196541", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "METTL21C", "equivalent_identifiers": ["NCBIGene:196541", "ENSEMBL:ENSG00000139780", "HGNC:33717", "OMIM:615259", "UMLS:C2681286", "UniProtKB:Q5VZV1", "PR:Q5VZV1", "ENSEMBL:ENSP00000267273", "ENSEMBL:ENSP00000267273.5"], "information_content": 100.0}
{"id": "MONDO:0002648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mammary Paget disease", "equivalent_identifiers": ["MONDO:0002648", "DOID:3443", "UMLS:C0030185", "MESH:D010144", "MEDDRA:10033367", "NCIT:C47857", "SNOMEDCT:2985005", "medgen:18263"], "information_content": 88.2}
{"id": "NCBIGene:140432", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF113B", "equivalent_identifiers": ["NCBIGene:140432", "ENSEMBL:ENSG00000139797", "HGNC:17267", "UMLS:C1538860", "UniProtKB:Q8IZP6", "PR:Q8IZP6", "ENSEMBL:ENSP00000267291", "ENSEMBL:ENSP00000267291.6"], "information_content": 100.0}
{"id": "NCBIGene:85416", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZIC5", "equivalent_identifiers": ["NCBIGene:85416", "ENSEMBL:ENSG00000139800", "HGNC:20322", "OMIM:617896", "UMLS:C1426858", "UniProtKB:Q96T25", "PR:Q96T25", "ENSEMBL:ENSP00000267294", "ENSEMBL:ENSP00000267294.4", "UMLS:C1432788", "MESH:C485965"], "information_content": 100.0}
{"id": "NCBIGene:55647", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB20", "equivalent_identifiers": ["NCBIGene:55647", "ENSEMBL:ENSG00000139832", "HGNC:18260", "UMLS:C1425401", "UniProtKB:Q9NX57", "PR:Q9NX57", "ENSEMBL:ENSP00000267328", "ENSEMBL:ENSP00000267328.3"], "information_content": 95.4}
{"id": "NCBIGene:6751", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSTR1", "equivalent_identifiers": ["NCBIGene:6751", "ENSEMBL:ENSG00000139874", "HGNC:11330", "OMIM:182451", "UMLS:C1335866", "UniProtKB:P30872", "PR:P30872", "ENSEMBL:ENSP00000267377", "ENSEMBL:ENSP00000267377.2", "UMLS:C5441777", "UniProtKB:Q86SW9"], "information_content": 95.4}
{"id": "UniProtKB:Q8IYK8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTP-binding protein REM 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYK8-1", "PR:Q8IYK8-1", "ENSEMBL:ENSP00000267396", "ENSEMBL:ENSP00000267396.4"], "information_content": 100.0}
{"id": "NCBIGene:643866", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CBLN3", "equivalent_identifiers": ["NCBIGene:643866", "ENSEMBL:ENSG00000139899", "HGNC:20146", "OMIM:612978", "UMLS:C1426730", "UniProtKB:Q6UW01", "PR:Q6UW01", "ENSEMBL:ENSP00000267406", "ENSEMBL:ENSP00000267406.6"], "information_content": 100.0}
{"id": "MONDO:0008865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bietti crystalline corneoretinal dystrophy", "equivalent_identifiers": ["MONDO:0008865", "DOID:0050664", "OMIM:210370", "orphanet:41751", "UMLS:C1859486", "MESH:C535440", "NCIT:C179299", "SNOMEDCT:312927001", "medgen:347895"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSI4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TERF1-interacting nuclear factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSI4-1", "PR:Q9BSI4-1", "ENSEMBL:ENSP00000267415", "ENSEMBL:ENSP00000267415.7", "ENSEMBL:ENSP00000495019", "ENSEMBL:ENSP00000495019.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86U38-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolar protein 9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86U38-1", "PR:Q86U38-1", "ENSEMBL:ENSP00000267425", "ENSEMBL:ENSP00000267425.3", "ENSEMBL:ENSP00000495668", "ENSEMBL:ENSP00000495668.1"], "information_content": 100.0}
{"id": "UniProtKB:A5D6W6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fat storage-inducing transmembrane protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:A5D6W6-1", "PR:A5D6W6-1", "ENSEMBL:ENSP00000267426", "ENSEMBL:ENSP00000267426.5", "ENSEMBL:ENSP00000493961", "ENSEMBL:ENSP00000493961.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYD8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fanconi anemia group M protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYD8-1", "PR:Q8IYD8-1", "ENSEMBL:ENSP00000267430", "ENSEMBL:ENSP00000267430.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9H9P8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9P8-1", "PR:Q9H9P8-1", "ENSEMBL:ENSP00000267436", "ENSEMBL:ENSP00000267436.4", "ENSEMBL:ENSP00000405559", "ENSEMBL:ENSP00000405559.3"], "information_content": 100.0}
{"id": "MONDO:0016001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "2-hydroxyglutaric aciduria", "equivalent_identifiers": ["MONDO:0016001", "DOID:0050573", "orphanet:19", "UMLS:C2746066", "MESH:C535306", "MEDDRA:10078971", "NCIT:C128187", "SNOMEDCT:698870008", "medgen:412535"], "information_content": 88.2}
{"id": "NCBIGene:57161", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PELI2", "equivalent_identifiers": ["NCBIGene:57161", "ENSEMBL:ENSG00000139946", "HGNC:8828", "OMIM:614798", "UMLS:C1418454", "UniProtKB:Q9H716", "UMLS:C4505549", "MESH:C000614204", "UniProtKB:Q9HAT8", "PR:Q9HAT8", "ENSEMBL:ENSP00000267460", "ENSEMBL:ENSP00000267460.4"], "information_content": 92.8}
{"id": "UniProtKB:Q16799-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reticulon-1 isoform hRTN1-A (human)", "equivalent_identifiers": ["UniProtKB:Q16799-1", "PR:Q16799-1", "ENSEMBL:ENSP00000267484", "ENSEMBL:ENSP00000267484.5"], "information_content": 100.0}
{"id": "NCBIGene:8477", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR65", "equivalent_identifiers": ["NCBIGene:8477", "ENSEMBL:ENSG00000140030", "HGNC:4517", "OMIM:604620", "UMLS:C1415251", "UniProtKB:B5B0C2", "UniProtKB:Q8IYL9", "PR:Q8IYL9", "ENSEMBL:ENSP00000267549", "ENSEMBL:ENSP00000267549.3", "UMLS:C1135700", "MESH:C513334"], "information_content": 92.8}
{"id": "UniProtKB:Q8WYK2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Jun dimerization protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYK2-2", "PR:Q8WYK2-2", "ENSEMBL:ENSP00000267569", "ENSEMBL:ENSP00000267569.5"], "information_content": 100.0}
{"id": "MONDO:0000291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatous amebic encephalitis", "equivalent_identifiers": ["MONDO:0000291", "DOID:0050246", "UMLS:C0338428", "SNOMEDCT:230187000", "medgen:572559"], "information_content": 100.0}
{"id": "NCBIGene:122481", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AK7", "equivalent_identifiers": ["NCBIGene:122481", "ENSEMBL:ENSG00000140057", "HGNC:20091", "OMIM:615364", "UMLS:C1426676", "UniProtKB:Q96M32", "PR:Q96M32", "ENSEMBL:ENSP00000267584", "ENSEMBL:ENSP00000267584.4", "UMLS:C3179756", "MESH:C556108"], "information_content": 100.0}
{"id": "UniProtKB:Q13572-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol-tetrakisphosphate 1-kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13572-1", "PR:Q13572-1", "ENSEMBL:ENSP00000267615", "ENSEMBL:ENSP00000267615.5", "ENSEMBL:ENSP00000451091", "ENSEMBL:ENSP00000451091.1", "ENSEMBL:ENSP00000483767", "ENSEMBL:ENSP00000483767.1", "ENSEMBL:ENSP00000486991", "ENSEMBL:ENSP00000486991.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15643-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thyroid receptor-interacting protein 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15643-1", "PR:Q15643-1", "ENSEMBL:ENSP00000267622", "ENSEMBL:ENSP00000267622.4"], "information_content": 100.0}
{"id": "MONDO:0013970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "branched-chain keto acid dehydrogenase kinase deficiency", "equivalent_identifiers": ["MONDO:0013970", "DOID:0090126", "OMIM:614923", "orphanet:308410", "UMLS:C3554078", "medgen:766992"], "information_content": 100.0}
{"id": "MONDO:0014162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency", "equivalent_identifiers": ["MONDO:0014162", "DOID:0111469", "OMIM:615395", "orphanet:352563", "UMLS:C3809339", "medgen:815669"], "information_content": 100.0}
{"id": "UniProtKB:Q5J8M3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ER membrane protein complex subunit 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5J8M3-1", "PR:Q5J8M3-1", "ENSEMBL:ENSP00000267750", "ENSEMBL:ENSP00000267750.4"], "information_content": 100.0}
{"id": "UniProtKB:Q1HG43-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual oxidase maturation factor 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q1HG43-2", "PR:Q1HG43-2", "ENSEMBL:ENSP00000267803", "ENSEMBL:ENSP00000267803.4", "ENSEMBL:ENSP00000453569", "ENSEMBL:ENSP00000453569.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6N043-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 280D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6N043-1", "PR:Q6N043-1", "ENSEMBL:ENSP00000267807", "ENSEMBL:ENSP00000267807.7"], "information_content": 100.0}
{"id": "MONDO:0010659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FRAXE Syndrome", "equivalent_identifiers": ["MONDO:0010659", "DOID:0080984", "OMIM:309548", "orphanet:100973", "UMLS:C0751157", "UMLS:C4274328", "SNOMEDCT:716709002", "medgen:155512"], "information_content": 100.0}
{"id": "MONDO:0004744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Preglaucoma", "equivalent_identifiers": ["MONDO:0004744", "DOID:9283", "UMLS:C0549470", "UMLS:C1533674", "MEDDRA:10006027", "MEDDRA:10006028", "MEDDRA:10036555", "SNOMEDCT:193531003", "medgen:735885", "ICD10:H40.00", "ICD9:365.00"], "information_content": 92.8}
{"id": "NCBIGene:4236", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MFAP1", "equivalent_identifiers": ["NCBIGene:4236", "ENSEMBL:ENSG00000140259", "HGNC:7032", "OMIM:600215", "UMLS:C1417126", "UniProtKB:P55081", "PR:P55081", "ENSEMBL:ENSP00000267812", "ENSEMBL:ENSP00000267812.3", "UMLS:C0525255"], "information_content": 92.8}
{"id": "UniProtKB:Q00796-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorbitol dehydrogenase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q00796-1", "PR:Q00796-1", "ENSEMBL:ENSP00000267814", "ENSEMBL:ENSP00000267814.9"], "information_content": 100.0}
{"id": "MONDO:0001825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "squamous papilloma", "equivalent_identifiers": ["MONDO:0001825", "DOID:139", "EFO:1001970", "UMLS:C0205874", "MEDDRA:10081692", "NCIT:C3712", "SNOMEDCT:63451008", "medgen:61470", "HP:0031021"], "information_content": 79.9}
{"id": "UniProtKB:Q8IV50-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LysM and putative peptidoglycan-binding domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IV50-1", "PR:Q8IV50-1", "ENSEMBL:ENSP00000267838", "ENSEMBL:ENSP00000267838.3"], "information_content": 100.0}
{"id": "UniProtKB:O14975-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "long-chain fatty acid transport protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14975-1", "PR:O14975-1", "ENSEMBL:ENSP00000267842", "ENSEMBL:ENSP00000267842.5"], "information_content": 100.0}
{"id": "UniProtKB:P21781-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibroblast growth factor 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P21781-1", "PR:P21781-1", "ENSEMBL:ENSP00000267843", "ENSEMBL:ENSP00000267843.4"], "information_content": 100.0}
{"id": "UniProtKB:P19113-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histidine decarboxylase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P19113-1", "PR:P19113-1", "ENSEMBL:ENSP00000267845", "ENSEMBL:ENSP00000267845.3"], "information_content": 100.0}
{"id": "UniProtKB:P0CAP1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myocardial zonula adherens protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P0CAP1-1", "PR:P0CAP1-1", "ENSEMBL:ENSP00000267853", "ENSEMBL:ENSP00000267853.5"], "information_content": 100.0}
{"id": "MONDO:0001060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microinvasive gastric cancer", "equivalent_identifiers": ["MONDO:0001060", "DOID:10541", "UMLS:C0349530", "NCIT:C27131", "SNOMEDCT:276809004", "medgen:138098"], "information_content": 95.4}
{"id": "MONDO:0014542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 15", "equivalent_identifiers": ["MONDO:0014542", "DOID:0110658", "OMIM:616227", "UMLS:C4015596", "medgen:864033"], "information_content": 100.0}
{"id": "NCBIGene:6727", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRP14", "equivalent_identifiers": ["NCBIGene:6727", "ENSEMBL:ENSG00000140319", "HGNC:11299", "OMIM:600708", "UMLS:C1420407", "UniProtKB:P37108", "PR:P37108", "ENSEMBL:ENSP00000267884", "ENSEMBL:ENSP00000267884.6", "UMLS:C1454335", "MESH:C490326"], "information_content": 88.2}
{"id": "UniProtKB:Q6IQ55-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tau-tubulin kinase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IQ55-1", "PR:Q6IQ55-1", "ENSEMBL:ENSP00000267890", "ENSEMBL:ENSP00000267890.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0A8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "COMM domain-containing protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0A8-1", "PR:Q9H0A8-1", "ENSEMBL:ENSP00000267935", "ENSEMBL:ENSP00000267935.8", "ENSEMBL:ENSP00000433662", "ENSEMBL:ENSP00000433662.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WVN8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 Q2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVN8-1", "PR:Q8WVN8-1", "ENSEMBL:ENSP00000267938", "ENSEMBL:ENSP00000267938.4"], "information_content": 100.0}
{"id": "UniProtKB:Q16548-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Bcl-2-related protein A1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16548-1", "PR:Q16548-1", "ENSEMBL:ENSP00000267953", "ENSEMBL:ENSP00000267953.3"], "information_content": 100.0}
{"id": "UniProtKB:O60637-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetraspanin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60637-1", "PR:O60637-1", "ENSEMBL:ENSP00000267970", "ENSEMBL:ENSP00000267970.4"], "information_content": 100.0}
{"id": "NCBIGene:91947", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARRDC4", "equivalent_identifiers": ["NCBIGene:91947", "ENSEMBL:ENSG00000140450", "HGNC:28087", "OMIM:619788", "UMLS:C1428668", "UniProtKB:A8K2F6", "UniProtKB:Q8NCT1", "PR:Q8NCT1", "ENSEMBL:ENSP00000268042", "ENSEMBL:ENSP00000268042.6"], "information_content": 95.4}
{"id": "UniProtKB:P05108-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cholesterol side-chain cleavage enzyme, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P05108-1", "PR:P05108-1", "ENSEMBL:ENSP00000268053", "ENSEMBL:ENSP00000268053.6", "ENSEMBL:ENSP00000500767", "ENSEMBL:ENSP00000500767.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96RK4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BBSome complex member BBS4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RK4-1", "PR:Q96RK4-1", "ENSEMBL:ENSP00000268057", "ENSEMBL:ENSP00000268057.4"], "information_content": 100.0}
{"id": "MONDO:0002970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ciliary body disorder", "equivalent_identifiers": ["MONDO:0002970", "DOID:4353", "UMLS:C0271100", "MEDDRA:10057415", "NCIT:C35775", "SNOMEDCT:68575007", "medgen:124384"], "information_content": 79.3}
{"id": "UniProtKB:P29590-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor PML isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P29590-1", "PR:P29590-1", "ENSEMBL:ENSP00000268058", "ENSEMBL:ENSP00000268058.3"], "information_content": 95.4}
{"id": "UniProtKB:Q8TE56-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "a disintegrin and metalloproteinase with thrombospondin motifs 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TE56-1", "PR:Q8TE56-1", "ENSEMBL:ENSP00000268070", "ENSEMBL:ENSP00000268070.4"], "information_content": 100.0}
{"id": "MONDO:0008492", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stiff skin syndrome", "equivalent_identifiers": ["MONDO:0008492", "DOID:0111561", "OMIM:184900", "orphanet:2833", "UMLS:C1861456", "MESH:C566112", "MEDDRA:10085085", "NCIT:C118636", "SNOMEDCT:765187004", "medgen:348877", "icd11.foundation:642409035"], "information_content": 95.4}
{"id": "MONDO:0017265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis", "equivalent_identifiers": ["MONDO:0017265", "DOID:0060655", "OMIM.PS:242300", "orphanet:281097", "UMLS:C1274215", "SNOMEDCT:402772005", "medgen:697564", "icd11.foundation:430849255", "ICD10:Q80.2"], "information_content": 79.0}
{"id": "NCBIGene:10066", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCAMP2", "equivalent_identifiers": ["NCBIGene:10066", "ENSEMBL:ENSG00000140497", "HGNC:10564", "OMIM:606912", "UMLS:C1419840", "UniProtKB:A0A140VK92", "UMLS:C1144230", "MESH:C466776", "UniProtKB:A8K769", "UniProtKB:O15127", "PR:O15127", "ENSEMBL:ENSP00000268099", "ENSEMBL:ENSP00000268099.9"], "information_content": 90.9}
{"id": "MONDO:0009728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 1", "equivalent_identifiers": ["MONDO:0009728", "DOID:0111112", "OMIM:256100", "orphanet:93592", "UMLS:C1855681", "MESH:C537699", "NCIT:C74998", "SNOMEDCT:444830001", "medgen:343406"], "information_content": 95.4}
{"id": "NCBIGene:51458", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHCG", "equivalent_identifiers": ["NCBIGene:51458", "ENSEMBL:ENSG00000140519", "HGNC:18140", "OMIM:605381", "UMLS:C1425338", "UniProtKB:Q9UBD6", "PR:Q9UBD6", "ENSEMBL:ENSP00000268122", "ENSEMBL:ENSP00000268122.4", "UMLS:C1439178", "MESH:C413213"], "information_content": 100.0}
{"id": "NCBIGene:6017", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RLBP1", "equivalent_identifiers": ["NCBIGene:6017", "ENSEMBL:ENSG00000140522", "HGNC:10024", "OMIM:180090", "UMLS:C1419391", "UniProtKB:P12271", "PR:P12271", "ENSEMBL:ENSP00000268125", "ENSEMBL:ENSP00000268125.5", "UMLS:C1456338"], "information_content": 92.8}
{"id": "NCBIGene:11057", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABHD2", "equivalent_identifiers": ["NCBIGene:11057", "ENSEMBL:ENSG00000140526", "HGNC:18717", "OMIM:612196", "UMLS:C1425733", "UniProtKB:A0A024RC89", "UMLS:C1999627", "MESH:C525115", "UniProtKB:P08910", "PR:P08910", "ENSEMBL:ENSP00000268129", "ENSEMBL:ENSP00000268129.5", "ENSEMBL:ENSP00000455639", "ENSEMBL:ENSP00000455639.1"], "information_content": 87.2}
{"id": "UniProtKB:Q6P2C0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 93 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P2C0-1", "PR:Q6P2C0-1", "ENSEMBL:ENSP00000268130", "ENSEMBL:ENSP00000268130.7"], "information_content": 100.0}
{"id": "MONDO:0013637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary biliary cholangitis 5", "equivalent_identifiers": ["MONDO:0013637", "DOID:0070362", "OMIM:614221", "UMLS:C3280202", "medgen:481832"], "information_content": 100.0}
{"id": "MONDO:0013080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary biliary cholangitis 3", "equivalent_identifiers": ["MONDO:0013080", "DOID:0070360", "OMIM:613008", "UMLS:C2751695", "MESH:C567816", "medgen:414443"], "information_content": 100.0}
{"id": "MONDO:0013636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary biliary cholangitis 4", "equivalent_identifiers": ["MONDO:0013636", "DOID:0070361", "OMIM:614220", "UMLS:C3280201", "medgen:481831"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z2Z1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "treslin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2Z1-1", "PR:Q7Z2Z1-1", "ENSEMBL:ENSP00000268138", "ENSEMBL:ENSP00000268138.7"], "information_content": 100.0}
{"id": "UniProtKB:Q08431-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lactadherin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08431-1", "PR:Q08431-1", "ENSEMBL:ENSP00000268150", "ENSEMBL:ENSP00000268150.8", "ENSEMBL:ENSP00000456281", "ENSEMBL:ENSP00000456281.1"], "information_content": 100.0}
{"id": "NCBIGene:374655", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF710", "equivalent_identifiers": ["NCBIGene:374655", "ENSEMBL:ENSG00000140548", "HGNC:25352", "UMLS:C1824014", "UniProtKB:Q8N1W2", "PR:Q8N1W2", "ENSEMBL:ENSP00000268154", "ENSEMBL:ENSP00000268154.3"], "information_content": 100.0}
{"id": "MONDO:0018130", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain dopamine-serotonin vesicular transport disease", "equivalent_identifiers": ["MONDO:0018130", "DOID:0070490", "OMIM:618049", "orphanet:352649", "UMLS:C4303546", "UMLS:C4747991", "SNOMEDCT:717942003", "medgen:929215"], "information_content": 100.0}
{"id": "NCBIGene:8128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ST8SIA2", "equivalent_identifiers": ["NCBIGene:8128", "ENSEMBL:ENSG00000140557", "HGNC:10870", "OMIM:602546", "UMLS:C1539874", "UniProtKB:B2R9U8", "UniProtKB:C6G488", "ENSEMBL:ENSP00000437382", "ENSEMBL:ENSP00000437382.1", "UniProtKB:Q4VAY9", "UniProtKB:Q92186", "PR:Q92186", "ENSEMBL:ENSP00000268164", "ENSEMBL:ENSP00000268164.3"], "information_content": 95.4}
{"id": "NCBIGene:8826", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IQGAP1", "equivalent_identifiers": ["NCBIGene:8826", "ENSEMBL:ENSG00000140575", "HGNC:6110", "OMIM:603379", "UMLS:C1416471", "UniProtKB:A0A0J9YXZ5", "ENSEMBL:ENSP00000488618", "ENSEMBL:ENSP00000488618.1", "UniProtKB:P46940", "PR:P46940", "ENSEMBL:ENSP00000268182", "ENSEMBL:ENSP00000268182.5", "UMLS:C1453155"], "information_content": 81.7}
{"id": "UniProtKB:Q6UUV7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CREB-regulated transcription coactivator 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UUV7-1", "PR:Q6UUV7-1", "ENSEMBL:ENSP00000268184", "ENSEMBL:ENSP00000268184.6", "ENSEMBL:ENSP00000510507", "ENSEMBL:ENSP00000510507.1"], "information_content": 100.0}
{"id": "MONDO:0003036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucoepidermoid carcinoma", "equivalent_identifiers": ["MONDO:0003036", "DOID:4531", "UMLS:C0206694", "UMLS:C0206712", "MESH:D018277", "MESH:D018298", "MEDDRA:10057269", "NCIT:C3772", "SNOMEDCT:127571003", "SNOMEDCT:4079000", "medgen:61662", "icd11.foundation:287052516"], "information_content": 74.5}
{"id": "MONDO:0004965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acinar cell carcinoma", "equivalent_identifiers": ["MONDO:0004965", "DOID:3025", "EFO:0000216", "UMLS:C0206685", "MESH:D018267", "MEDDRA:10064646", "NCIT:C3768", "SNOMEDCT:45410002", "medgen:61660", "icd11.foundation:1322159869"], "information_content": 76.7}
{"id": "MONDO:0003158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant myoepithelioma", "equivalent_identifiers": ["MONDO:0003158", "DOID:4838", "UMLS:C0334699", "NCIT:C7596", "SNOMEDCT:128884000", "SNOMEDCT:1293098006", "medgen:90822"], "information_content": 86.3}
{"id": "MONDO:0014608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mandibulofacial dysostosis with alopecia", "equivalent_identifiers": ["MONDO:0014608", "DOID:0060365", "OMIM:616367", "orphanet:443995", "UMLS:C4225349", "SNOMEDCT:1216943004", "medgen:898794"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z2Z2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "elongation factor-like GTPase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2Z2-1", "PR:Q7Z2Z2-1", "ENSEMBL:ENSP00000268206", "ENSEMBL:ENSP00000268206.7", "ENSEMBL:ENSP00000512564", "ENSEMBL:ENSP00000512564.1"], "information_content": 100.0}
{"id": "MONDO:0012212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loeys-Dietz syndrome 1", "equivalent_identifiers": ["MONDO:0012212", "DOID:0070235", "OMIM:609192", "UMLS:C1836635", "UMLS:C2674127", "UMLS:C2697933", "UMLS:C2931764", "UMLS:C4551955", "MESH:C538192", "MESH:C567156", "NCIT:C75119", "medgen:1646567"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYM1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "septin-12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYM1-1", "PR:Q8IYM1-1", "ENSEMBL:ENSP00000268231", "ENSEMBL:ENSP00000268231.8"], "information_content": 100.0}
{"id": "MONDO:0005440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "embryonal carcinoma", "equivalent_identifiers": ["MONDO:0005440", "DOID:3308", "orphanet:180226", "EFO:0004986", "UMLS:C0206659", "UMLS:C0855159", "MESH:D018236", "MEDDRA:10015789", "NCIT:C3752", "NCIT:C8880", "SNOMEDCT:1156454002", "SNOMEDCT:28047004", "medgen:61653"], "information_content": 79.9}
{"id": "UniProtKB:O15305-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphomannomutase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15305-1", "PR:O15305-1", "ENSEMBL:ENSP00000268261", "ENSEMBL:ENSP00000268261.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5K4E3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyserase-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5K4E3-1", "PR:Q5K4E3-1", "ENSEMBL:ENSP00000268281", "ENSEMBL:ENSP00000268281.4"], "information_content": 100.0}
{"id": "NCBIGene:7385", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UQCRC2", "equivalent_identifiers": ["NCBIGene:7385", "ENSEMBL:ENSG00000140740", "HGNC:12586", "OMIM:191329", "UMLS:C1442768", "UniProtKB:P22695", "PR:P22695", "ENSEMBL:ENSP00000268379", "ENSEMBL:ENSP00000268379.4"], "information_content": 88.2}
{"id": "NCBIGene:1039", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDR2", "equivalent_identifiers": ["NCBIGene:1039", "ENSEMBL:ENSG00000140743", "HGNC:1799", "OMIM:117340", "UMLS:C1413296", "UniProtKB:Q01850", "PR:Q01850", "ENSEMBL:ENSP00000268383", "ENSEMBL:ENSP00000268383.2", "UMLS:C1438060", "MESH:C095184"], "information_content": 95.4}
{"id": "MONDO:0001433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vaginal disease", "equivalent_identifiers": ["MONDO:0001433", "DOID:121", "UMLS:C0042251", "MESH:D014623", "MEDDRA:10046903", "MEDDRA:10061402", "NCIT:C26910", "SNOMEDCT:25658005", "medgen:12042"], "information_content": 68.4}
{"id": "NCBIGene:10261", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGSF6", "equivalent_identifiers": ["NCBIGene:10261", "ENSEMBL:ENSG00000140749", "HGNC:5953", "OMIM:606222", "UMLS:C1416375", "UniProtKB:O95976", "PR:O95976", "ENSEMBL:ENSP00000268389", "ENSEMBL:ENSP00000268389.4", "ENSEMBL:ENSP00000491064", "ENSEMBL:ENSP00000491064.1", "ENSEMBL:ENSP00000492471", "ENSEMBL:ENSP00000492471.2", "UMLS:C0759458", "MESH:C115408"], "information_content": 100.0}
{"id": "MONDO:0011762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 22", "equivalent_identifiers": ["MONDO:0011762", "DOID:0110480", "OMIM:607039", "UMLS:C1846896", "MESH:C564633", "medgen:339636"], "information_content": 100.0}
{"id": "NCBIGene:85407", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKD1", "equivalent_identifiers": ["NCBIGene:85407", "ENSEMBL:ENSG00000140807", "HGNC:17045", "OMIM:607851", "UMLS:C1424706", "UniProtKB:Q969G9", "PR:Q969G9", "ENSEMBL:ENSP00000268459", "ENSEMBL:ENSP00000268459.3", "UMLS:C1120913", "MESH:C449091"], "information_content": 100.0}
{"id": "UniProtKB:Q92620-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92620-1", "PR:Q92620-1", "ENSEMBL:ENSP00000268482", "ENSEMBL:ENSP00000268482.3"], "information_content": 100.0}
{"id": "NCBIGene:54957", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TXNL4B", "equivalent_identifiers": ["NCBIGene:54957", "ENSEMBL:ENSG00000140830", "HGNC:26041", "OMIM:617722", "UMLS:C1540141", "UniProtKB:Q9NX01", "PR:Q9NX01", "ENSEMBL:ENSP00000268483", "ENSEMBL:ENSP00000268483.3", "ENSEMBL:ENSP00000392310", "ENSEMBL:ENSP00000392310.2", "ENSEMBL:ENSP00000408130", "ENSEMBL:ENSP00000408130.1", "UMLS:C1686888", "MESH:C506013"], "information_content": 95.4}
{"id": "UniProtKB:P0C024-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal coenzyme A diphosphatase NUDT7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0C024-1", "PR:P0C024-1", "ENSEMBL:ENSP00000268533", "ENSEMBL:ENSP00000268533.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAZ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CKLF-like MARVEL transmembrane domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAZ6-1", "PR:Q8TAZ6-1", "ENSEMBL:ENSP00000268595", "ENSEMBL:ENSP00000268595.2"], "information_content": 100.0}
{"id": "MONDO:0017844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sezary syndrome", "equivalent_identifiers": ["MONDO:0017844", "DOID:8541", "orphanet:3162", "EFO:1000785", "UMLS:C0036920", "MESH:D012751", "MEDDRA:10040493", "MEDDRA:10040500", "MEDDRA:10040516", "NCIT:C3366", "SNOMEDCT:118611004", "SNOMEDCT:4950009", "medgen:19959", "icd11.foundation:1358020385", "ICD10:C84.1", "ICD9:202.2"], "information_content": 89.4}
{"id": "MONDO:0002464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lacrimal gland cancer", "equivalent_identifiers": ["MONDO:0002464", "DOID:294", "UMLS:C0153627", "MEDDRA:10026031", "NCIT:C3563", "SNOMEDCT:127004000", "SNOMEDCT:188272000", "medgen:56315", "ICD9:190.2"], "information_content": 81.7}
{"id": "UniProtKB:P55287-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P55287-1", "PR:P55287-1", "ENSEMBL:ENSP00000268603", "ENSEMBL:ENSP00000268603.4"], "information_content": 100.0}
{"id": "MONDO:0008885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Elsahy-Waters syndrome", "equivalent_identifiers": ["MONDO:0008885", "DOID:0080631", "OMIM:211380", "orphanet:1299", "UMLS:C0809936", "UMLS:C1863870", "MESH:C537084", "MESH:C566373", "SNOMEDCT:719097002", "medgen:923028"], "information_content": 100.0}
{"id": "MONDO:0030639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Teebi syndrome", "equivalent_identifiers": ["MONDO:0030639", "DOID:0081073", "OMIM.PS:145420", "UMLS:C0796179", "MESH:C538387", "MEDDRA:10079435", "medgen:208673"], "information_content": 92.8}
{"id": "MONDO:0004482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibroosseous pseudotumor of the digits", "equivalent_identifiers": ["MONDO:0004482", "DOID:8153", "UMLS:C1333612", "NCIT:C6573", "SNOMEDCT:403991009", "medgen:232507"], "information_content": 95.4}
{"id": "UniProtKB:P55290-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-13 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P55290-4", "PR:P55290-4", "ENSEMBL:ENSP00000268613", "ENSEMBL:ENSP00000268613.10"], "information_content": 100.0}
{"id": "UniProtKB:Q8WYQ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger CCHC domain-containing protein 14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYQ9-1", "PR:Q8WYQ9-1", "ENSEMBL:ENSP00000268616", "ENSEMBL:ENSP00000268616.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCV1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenosine deaminase domain-containing protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCV1-2", "PR:Q8NCV1-2", "ENSEMBL:ENSP00000268624", "ENSEMBL:ENSP00000268624.3"], "information_content": 100.0}
{"id": "MONDO:0010733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 2", "equivalent_identifiers": ["MONDO:0010733", "DOID:0110773", "OMIM:312920", "orphanet:99015", "UMLS:C1839264", "MESH:C536857", "SNOMEDCT:723622007", "medgen:374177"], "information_content": 100.0}
{"id": "NCBIGene:3394", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IRF8", "equivalent_identifiers": ["NCBIGene:3394", "ENSEMBL:ENSG00000140968", "HGNC:5358", "OMIM:601565", "UMLS:C1537422", "UniProtKB:H3BRT4", "ENSEMBL:ENSP00000455452", "ENSEMBL:ENSP00000455452.1", "ENSEMBL:ENSP00000456395", "ENSEMBL:ENSP00000456395.2", "UniProtKB:Q02556", "PR:Q02556", "ENSEMBL:ENSP00000268638", "ENSEMBL:ENSP00000268638.4", "ENSEMBL:ENSP00000456992", "ENSEMBL:ENSP00000456992.2", "ENSEMBL:ENSP00000512953", "ENSEMBL:ENSP00000512953.1", "UMLS:C1450600"], "information_content": 95.4}
{"id": "NCBIGene:6123", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL3L", "equivalent_identifiers": ["NCBIGene:6123", "ENSEMBL:ENSG00000140986", "HGNC:10351", "OMIM:617416", "UMLS:C1419674", "UniProtKB:Q92901", "PR:Q92901", "ENSEMBL:ENSP00000268661", "ENSEMBL:ENSP00000268661.7", "ENSEMBL:ENSP00000517569", "ENSEMBL:ENSP00000517569.1"], "information_content": 100.0}
{"id": "UniProtKB:O96000-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O96000-1", "PR:O96000-1", "ENSEMBL:ENSP00000268668", "ENSEMBL:ENSP00000268668.6", "ENSEMBL:ENSP00000517571", "ENSEMBL:ENSP00000517571.1"], "information_content": 100.0}
{"id": "UniProtKB:O75081-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein CBFA2T3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75081-1", "PR:O75081-1", "ENSEMBL:ENSP00000268679", "ENSEMBL:ENSP00000268679.4"], "information_content": 100.0}
{"id": "NCBIGene:2588", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GALNS", "equivalent_identifiers": ["NCBIGene:2588", "ENSEMBL:ENSG00000141012", "HGNC:4122", "OMIM:612222", "UMLS:C1414950", "UniProtKB:P34059", "PR:P34059", "ENSEMBL:ENSP00000268695", "ENSEMBL:ENSP00000268695.5", "UMLS:C1447456", "MESH:C102295", "UniProtKB:Q6YL38", "UniProtKB:Q96I49"], "information_content": 89.4}
{"id": "UniProtKB:O95995-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein regulatory complex subunit 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95995-1", "PR:O95995-1", "ENSEMBL:ENSP00000268699", "ENSEMBL:ENSP00000268699.4"], "information_content": 100.0}
{"id": "NCBIGene:55090", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MED9", "equivalent_identifiers": ["NCBIGene:55090", "ENSEMBL:ENSG00000141026", "HGNC:25487", "OMIM:609878", "UMLS:C1537676", "UniProtKB:Q9NWA0", "PR:Q9NWA0", "ENSEMBL:ENSP00000268711", "ENSEMBL:ENSP00000268711.3"], "information_content": 100.0}
{"id": "UniProtKB:O75376-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor corepressor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75376-1", "PR:O75376-1", "ENSEMBL:ENSP00000268712", "ENSEMBL:ENSP00000268712.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNS2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "COP9 signalosome complex subunit 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNS2-1", "PR:Q9UNS2-1", "ENSEMBL:ENSP00000268717", "ENSEMBL:ENSP00000268717.5"], "information_content": 100.0}
{"id": "NCBIGene:79018", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GID4", "equivalent_identifiers": ["NCBIGene:79018", "ENSEMBL:ENSG00000141034", "HGNC:28453", "OMIM:617699", "UMLS:C3539395", "UniProtKB:B3KXL6", "UMLS:C5197131", "MESH:C000631104", "UniProtKB:K4DI96", "ENSEMBL:ENSP00000365523", "ENSEMBL:ENSP00000365523.3", "UniProtKB:Q8IVV7", "PR:Q8IVV7", "ENSEMBL:ENSP00000268719", "ENSEMBL:ENSP00000268719.4", "UMLS:C4553678"], "information_content": 95.4}
{"id": "UniProtKB:Q9UBL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "copine-7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBL6-1", "PR:Q9UBL6-1", "ENSEMBL:ENSP00000268720", "ENSEMBL:ENSP00000268720.5"], "information_content": 100.0}
{"id": "MONDO:0004059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentin sensitivity", "equivalent_identifiers": ["MONDO:0004059", "DOID:698", "UMLS:C0011432", "MESH:D003807", "MEDDRA:10040010", "MEDDRA:10040012", "NCIT:C50778", "SNOMEDCT:13468005", "medgen:41477"], "information_content": 100.0}
{"id": "NCBIGene:284086", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEK8", "equivalent_identifiers": ["NCBIGene:284086", "ENSEMBL:ENSG00000160602", "HGNC:13387", "OMIM:609799", "UMLS:C1421969", "UniProtKB:Q86SG6", "PR:Q86SG6", "ENSEMBL:ENSP00000268766", "ENSEMBL:ENSP00000268766.6", "UMLS:C1433900", "MESH:C458529"], "information_content": 95.4}
{"id": "NCBIGene:28987", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOB1", "equivalent_identifiers": ["NCBIGene:28987", "ENSEMBL:ENSG00000141101", "HGNC:29540", "OMIM:613586", "UMLS:C1826444", "UniProtKB:Q9ULX3", "PR:Q9ULX3", "ENSEMBL:ENSP00000268802", "ENSEMBL:ENSP00000268802.5", "UMLS:C1678785", "MESH:C506664"], "information_content": 92.8}
{"id": "UniProtKB:O60256-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60256-1", "PR:O60256-1", "ENSEMBL:ENSP00000268835", "ENSEMBL:ENSP00000268835.2"], "information_content": 100.0}
{"id": "MONDO:0010699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease X-linked recessive 5", "equivalent_identifiers": ["MONDO:0010699", "DOID:0110210", "OMIM:311070", "orphanet:99014", "UMLS:C1839566", "MESH:C537129", "SNOMEDCT:763460007", "medgen:374254"], "information_content": 95.4}
{"id": "MONDO:0010533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Arts syndrome", "equivalent_identifiers": ["MONDO:0010533", "DOID:0050647", "OMIM:301835", "orphanet:1187", "UMLS:C0796028", "MESH:C535388", "SNOMEDCT:702441001", "medgen:163205"], "information_content": 95.4}
{"id": "MONDO:0010877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 5", "equivalent_identifiers": ["MONDO:0010877", "DOID:0080067", "OMIM:600361", "orphanet:64751", "UMLS:C0751602", "UMLS:C4721916", "SNOMEDCT:737227004", "SNOMEDCT:76043009", "SNOMEDCT:771143004", "medgen:1648461"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein unc-45 homolog B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWX7-1", "PR:Q8IWX7-1", "ENSEMBL:ENSP00000268876", "ENSEMBL:ENSP00000268876.4"], "information_content": 100.0}
{"id": "MONDO:0013012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 27", "equivalent_identifiers": ["MONDO:0013012", "DOID:0110902", "OMIM:612796", "UMLS:C2748550", "MESH:C567559", "medgen:412579"], "information_content": 100.0}
{"id": "MONDO:0000824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital diarrhea", "equivalent_identifiers": ["MONDO:0000824", "DOID:0060774", "OMIM.PS:214700"], "information_content": 80.6}
{"id": "NCBIGene:84643", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIF2B", "equivalent_identifiers": ["NCBIGene:84643", "ENSEMBL:ENSG00000141200", "HGNC:29443", "OMIM:615142", "UMLS:C1537481", "UniProtKB:A0A140VKG5", "UMLS:C2000030", "MESH:C523507", "UniProtKB:Q8N4N8", "PR:Q8N4N8", "ENSEMBL:ENSP00000268919", "ENSEMBL:ENSP00000268919.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9H201-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epsin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H201-1", "PR:Q9H201-1", "ENSEMBL:ENSP00000268933", "ENSEMBL:ENSP00000268933.3"], "information_content": 100.0}
{"id": "UniProtKB:O43147-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small G protein signaling modulator 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O43147-2", "PR:O43147-2", "ENSEMBL:ENSP00000268989", "ENSEMBL:ENSP00000268989.3"], "information_content": 100.0}
{"id": "NCBIGene:90506", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC46", "equivalent_identifiers": ["NCBIGene:90506", "ENSEMBL:ENSG00000141294", "HGNC:25047", "OMIM:620927", "UMLS:C1825893", "UniProtKB:Q96FV0", "PR:Q96FV0", "ENSEMBL:ENSP00000269025", "ENSEMBL:ENSP00000269025.4"], "information_content": 100.0}
{"id": "UniProtKB:P58872-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rhomboid-related protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P58872-1", "PR:P58872-1", "ENSEMBL:ENSP00000269051", "ENSEMBL:ENSP00000269051.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXA5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sperm acrosome membrane-associated protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXA5-1", "PR:Q8IXA5-1", "ENSEMBL:ENSP00000269053", "ENSEMBL:ENSP00000269053.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWZ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family A member 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWZ4-1", "PR:Q8WWZ4-1", "ENSEMBL:ENSP00000269081", "ENSEMBL:ENSP00000269081.4", "ENSEMBL:ENSP00000509702", "ENSEMBL:ENSP00000509702.1"], "information_content": 100.0}
{"id": "MONDO:0008783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tangier disease", "equivalent_identifiers": ["MONDO:0008783", "DOID:1388", "OMIM:205400", "orphanet:31150", "UMLS:C0039292", "UMLS:C0751544", "UMLS:C1704429", "UMLS:C2931838", "MESH:D013631", "MEDDRA:10051875", "MEDDRA:10079119", "NCIT:C85182", "SNOMEDCT:15346004", "SNOMEDCT:723579009", "medgen:52644"], "information_content": 100.0}
{"id": "MONDO:0009380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dubin-Johnson syndrome", "equivalent_identifiers": ["MONDO:0009380", "DOID:12308", "OMIM:237500", "orphanet:234", "UMLS:C0022350", "MESH:D007566", "MEDDRA:10013800", "NCIT:C34741", "SNOMEDCT:44553005", "medgen:7181", "icd11.foundation:1691610999", "ICD10:E80.6"], "information_content": 100.0}
{"id": "NCBIGene:92579", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "G6PC3", "equivalent_identifiers": ["NCBIGene:92579", "ENSEMBL:ENSG00000141349", "HGNC:24861", "OMIM:611045", "UMLS:C1428419", "UniProtKB:A0A8Q3SIG5", "ENSEMBL:ENSP00000512593", "ENSEMBL:ENSP00000512593.1", "UMLS:C1452415", "MESH:C492193", "UniProtKB:K7EJC5", "ENSEMBL:ENSP00000465111", "ENSEMBL:ENSP00000465111.2", "UniProtKB:Q9BUM1", "PR:Q9BUM1", "ENSEMBL:ENSP00000269097", "ENSEMBL:ENSP00000269097.3", "UMLS:C5444643"], "information_content": 89.4}
{"id": "NCBIGene:124773", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHCT1", "equivalent_identifiers": ["NCBIGene:124773", "ENSEMBL:ENSG00000141371", "HGNC:26990", "UMLS:C5781691", "UniProtKB:Q86WR6", "PR:Q86WR6", "ENSEMBL:ENSP00000269127", "ENSEMBL:ENSP00000269127.4"], "information_content": 100.0}
{"id": "MONDO:0007125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ankyloglossia", "equivalent_identifiers": ["MONDO:0007125", "DOID:0060604", "OMIM:106280", "UMLS:C0152415", "UMLS:C4759698", "MESH:C562396", "MESH:D000072676", "MEDDRA:10043987", "MEDDRA:10049244", "MEDDRA:10088611", "NCIT:C124538", "SNOMEDCT:67787004", "medgen:56288", "icd11.foundation:1838543063", "ICD10:Q38.1", "HP:0010296"], "information_content": 100.0}
{"id": "UniProtKB:P19022-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P19022-1", "PR:P19022-1", "ENSEMBL:ENSP00000269141", "ENSEMBL:ENSP00000269141.3"], "information_content": 100.0}
{"id": "MONDO:0030065", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agenesis of corpus callosum, cardiac, ocular, and genital syndrome", "equivalent_identifiers": ["MONDO:0030065", "DOID:0080948", "OMIM:618929", "UMLS:C5394523", "medgen:1718475"], "information_content": 100.0}
{"id": "NCBIGene:10939", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AFG3L2", "equivalent_identifiers": ["NCBIGene:10939", "ENSEMBL:ENSG00000141385", "HGNC:315", "OMIM:604581", "UMLS:C1412274", "UniProtKB:Q8TA92", "UMLS:C0908073", "MESH:C120699", "UniProtKB:Q9Y4W6", "PR:Q9Y4W6", "ENSEMBL:ENSP00000269143", "ENSEMBL:ENSP00000269143.2"], "information_content": 92.8}
{"id": "UniProtKB:O14732-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol monophosphatase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14732-1", "PR:O14732-1", "ENSEMBL:ENSP00000269159", "ENSEMBL:ENSP00000269159.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13433-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc transporter ZIP6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13433-1", "PR:Q13433-1", "ENSEMBL:ENSP00000269187", "ENSEMBL:ENSP00000269187.4", "ENSEMBL:ENSP00000465915", "ENSEMBL:ENSP00000465915.1"], "information_content": 100.0}
{"id": "UniProtKB:Q10472-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypeptide N-acetylgalactosaminyltransferase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q10472-1", "PR:Q10472-1", "ENSEMBL:ENSP00000269195", "ENSEMBL:ENSP00000269195.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0F0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative Polycomb group protein ASXL3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0F0-1", "PR:Q9C0F0-1", "ENSEMBL:ENSP00000269197", "ENSEMBL:ENSP00000269197.4"], "information_content": 100.0}
{"id": "MONDO:0002641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subclavian artery aneurysm", "equivalent_identifiers": ["MONDO:0002641", "DOID:342", "UMLS:C0155746", "MEDDRA:10002359", "MEDDRA:10042331", "SNOMEDCT:40136003", "medgen:510068", "ICD9:442.82"], "information_content": 100.0}
{"id": "UniProtKB:Q9H706-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GRB2-associated and regulator of MAPK protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H706-1", "PR:Q9H706-1", "ENSEMBL:ENSP00000269209", "ENSEMBL:ENSP00000269209.6"], "information_content": 100.0}
{"id": "UniProtKB:Q5FWF5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetyltransferase ESCO1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5FWF5-1", "PR:Q5FWF5-1", "ENSEMBL:ENSP00000269214", "ENSEMBL:ENSP00000269214.4"], "information_content": 100.0}
{"id": "UniProtKB:Q92908-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor GATA-6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92908-1", "PR:Q92908-1", "ENSEMBL:ENSP00000269216", "ENSEMBL:ENSP00000269216.3", "ENSEMBL:ENSP00000462313", "ENSEMBL:ENSP00000462313.1"], "information_content": 100.0}
{"id": "MONDO:0014981", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 49", "equivalent_identifiers": ["MONDO:0014981", "DOID:0111979", "OMIM:617237", "UMLS:C4310656", "medgen:934623"], "information_content": 100.0}
{"id": "NCBIGene:29919", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RMC1", "equivalent_identifiers": ["NCBIGene:29919", "ENSEMBL:ENSG00000141452", "HGNC:24326", "OMIM:620267", "UMLS:C1428369", "UniProtKB:B7Z201", "UniProtKB:B7Z2Y1", "UniProtKB:B7Z3Q1", "UniProtKB:K7ENL9", "ENSEMBL:ENSP00000467007", "ENSEMBL:ENSP00000467007.1", "UniProtKB:Q96DM3", "PR:Q96DM3", "ENSEMBL:ENSP00000269221", "ENSEMBL:ENSP00000269221.2"], "information_content": 92.8}
{"id": "UniProtKB:O15118-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NPC intracellular cholesterol transporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15118-1", "PR:O15118-1", "ENSEMBL:ENSP00000269228", "ENSEMBL:ENSP00000269228.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H091-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger MYND domain-containing protein 15 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9H091-3", "PR:Q9H091-3", "ENSEMBL:ENSP00000269289", "ENSEMBL:ENSP00000269289.6", "ENSEMBL:ENSP00000459501", "ENSEMBL:ENSP00000459501.1"], "information_content": 100.0}
{"id": "MONDO:0004983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "azoospermia", "equivalent_identifiers": ["MONDO:0004983", "DOID:0111910", "OMIM.PS:258150", "EFO:0000279", "UMLS:C3553794", "medgen:766708"], "information_content": 69.0}
{"id": "MONDO:0850098", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oligoasthenoteratozoospermia", "equivalent_identifiers": ["MONDO:0850098", "DOID:0070311"], "information_content": 100.0}
{"id": "MONDO:0056795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked spermatogenic failure 1", "equivalent_identifiers": ["MONDO:0056795", "DOID:0050457", "DOID:0070189", "OMIM:305700", "EFO:1001422", "UMLS:C1384583", "MESH:D054331", "MEDDRA:10066833", "MEDDRA:10066836", "NCIT:C168988", "SNOMEDCT:73465006"], "information_content": 100.0}
{"id": "UniProtKB:P07306-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "asialoglycoprotein receptor 1 isoform hH1a (human)", "equivalent_identifiers": ["UniProtKB:P07306-1", "PR:P07306-1", "ENSEMBL:ENSP00000269299", "ENSEMBL:ENSP00000269299.3"], "information_content": 100.0}
{"id": "UniProtKB:P04637-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cellular tumor antigen p53 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P04637-1", "PR:P04637-1", "ENSEMBL:ENSP00000269305", "ENSEMBL:ENSP00000269305.4", "ENSEMBL:ENSP00000391478", "ENSEMBL:ENSP00000391478.2", "ENSEMBL:ENSP00000424104", "ENSEMBL:ENSP00000424104.2", "ENSEMBL:ENSP00000426252", "ENSEMBL:ENSP00000426252.2", "ENSEMBL:ENSP00000519624", "ENSEMBL:ENSP00000519624.1", "ENSEMBL:ENSP00000519626", "ENSEMBL:ENSP00000519626.1"], "information_content": 79.0}
{"id": "MONDO:0006895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "penile neoplasm", "equivalent_identifiers": ["MONDO:0006895", "DOID:11624", "EFO:1001094", "UMLS:C0030849", "MESH:D010412", "MEDDRA:10034308", "MEDDRA:10049570", "MEDDRA:10061913", "NCIT:C3317", "SNOMEDCT:126896003", "medgen:14656", "HP:0100850"], "information_content": 69.5}
{"id": "UniProtKB:Q9BSA4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein tweety homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSA4-1", "PR:Q9BSA4-1", "ENSEMBL:ENSP00000269346", "ENSEMBL:ENSP00000269346.4"], "information_content": 100.0}
{"id": "NCBIGene:201292", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM65", "equivalent_identifiers": ["NCBIGene:201292", "ENSEMBL:ENSG00000141569", "HGNC:27316", "OMIM:619408", "UMLS:C1540069", "UniProtKB:Q6PJ69", "PR:Q6PJ69", "ENSEMBL:ENSP00000269383", "ENSEMBL:ENSP00000269383.3", "UMLS:C3849760", "MESH:C000589384"], "information_content": 95.4}
{"id": "NCBIGene:57332", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CBX8", "equivalent_identifiers": ["NCBIGene:57332", "ENSEMBL:ENSG00000141570", "HGNC:15962", "OMIM:617354", "UMLS:C1423866", "UniProtKB:Q9HC52", "PR:Q9HC52", "ENSEMBL:ENSP00000269385", "ENSEMBL:ENSP00000269385.4", "UMLS:C3252379", "MESH:C570428"], "information_content": 100.0}
{"id": "NCBIGene:6398", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SECTM1", "equivalent_identifiers": ["NCBIGene:6398", "ENSEMBL:ENSG00000141574", "HGNC:10707", "OMIM:602602", "UMLS:C1335807", "UniProtKB:Q8WVN6", "PR:Q8WVN6", "ENSEMBL:ENSP00000269389", "ENSEMBL:ENSP00000269389.3", "UMLS:C0672634", "MESH:C111200"], "information_content": 100.0}
{"id": "MONDO:0001413", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulceroglandular tularemia", "equivalent_identifiers": ["MONDO:0001413", "DOID:11990", "UMLS:C0152941", "MEDDRA:10045371", "MEDDRA:10060428", "SNOMEDCT:37722001", "medgen:509087", "ICD10:A21.0", "ICD9:021.0"], "information_content": 100.0}
{"id": "MONDO:0013796", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 17q12 duplication syndrome", "equivalent_identifiers": ["MONDO:0013796", "DOID:0060433", "OMIM:614526", "orphanet:261272", "UMLS:C3281137", "SNOMEDCT:764435003", "medgen:482767"], "information_content": 100.0}
{"id": "UniProtKB:Q96PX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin ligase RNF157 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PX1-1", "PR:Q96PX1-1", "ENSEMBL:ENSP00000269391", "ENSEMBL:ENSP00000269391.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPN4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 131 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPN4-1", "PR:Q9UPN4-1", "ENSEMBL:ENSP00000269392", "ENSEMBL:ENSP00000269392.4"], "information_content": 100.0}
{"id": "NCBIGene:79755", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF750", "equivalent_identifiers": ["NCBIGene:79755", "ENSEMBL:ENSG00000141579", "HGNC:25843", "OMIM:610226", "UMLS:C1824035", "UniProtKB:Q32MQ0", "PR:Q32MQ0", "ENSEMBL:ENSP00000269394", "ENSEMBL:ENSP00000269394.3", "UMLS:C3490890", "MESH:C570799"], "information_content": 100.0}
{"id": "DOID:0050465", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Muir-Torre syndrome", "equivalent_identifiers": ["DOID:0050465", "OMIM:158320", "UMLS:C1321489", "MESH:D055653", "MEDDRA:10063042", "NCIT:C84905", "SNOMEDCT:403824007"], "information_content": 100.0}
{"id": "UniProtKB:O00257-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 SUMO-protein ligase CBX4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00257-1", "PR:O00257-1", "ENSEMBL:ENSP00000269397", "ENSEMBL:ENSP00000269397.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZSG1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase ARK2C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZSG1-1", "PR:Q6ZSG1-1", "ENSEMBL:ENSP00000269439", "ENSEMBL:ENSP00000269439.6"], "information_content": 100.0}
{"id": "UniProtKB:Q7RTS9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dymeclin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTS9-1", "PR:Q7RTS9-1", "ENSEMBL:ENSP00000269445", "ENSEMBL:ENSP00000269445.6"], "information_content": 100.0}
{"id": "MONDO:0009818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 3", "equivalent_identifiers": ["MONDO:0009818", "DOID:0110941", "OMIM:259730", "orphanet:2785", "UMLS:C0345407", "MESH:C536058", "NCIT:C118438", "SNOMEDCT:254122007", "medgen:91042"], "information_content": 100.0}
{"id": "NCBIGene:5275", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINB13", "equivalent_identifiers": ["NCBIGene:5275", "ENSEMBL:ENSG00000197641", "HGNC:8944", "OMIM:604445", "UMLS:C1418547", "UniProtKB:A0A0A0MQW3", "ENSEMBL:ENSP00000269489", "ENSEMBL:ENSP00000269489.6", "UMLS:C1438795", "MESH:C530652", "UniProtKB:B7Z447", "UniProtKB:Q9UIV8", "PR:Q9UIV8"]}
{"id": "UniProtKB:Q9C0B9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger CCHC domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0B9-1", "PR:Q9C0B9-1", "ENSEMBL:ENSP00000269499", "ENSEMBL:ENSP00000269499.4"], "information_content": 100.0}
{"id": "NCBIGene:147381", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CBLN2", "equivalent_identifiers": ["NCBIGene:147381", "ENSEMBL:ENSG00000141668", "HGNC:1544", "OMIM:600433", "UMLS:C1413152", "UniProtKB:Q8IUK8", "PR:Q8IUK8", "ENSEMBL:ENSP00000269503", "ENSEMBL:ENSP00000269503.4", "ENSEMBL:ENSP00000463771", "ENSEMBL:ENSP00000463771.1", "UMLS:C5226634", "MESH:C000654166"], "information_content": 92.8}
{"id": "MONDO:0005149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary hypertension", "equivalent_identifiers": ["MONDO:0005149", "DOID:6432", "UMLS:C0020542", "UMLS:C2973725", "MESH:D006976", "MEDDRA:10020787", "MEDDRA:10037400", "MEDDRA:10037401", "MEDDRA:10037403", "MEDDRA:10064911", "NCIT:C157552", "NCIT:C3120", "SNOMEDCT:11399002", "SNOMEDCT:70995007", "medgen:9376", "icd11.foundation:1496633964", "ICD10:I27.20", "HP:0002092"], "information_content": 80.9}
{"id": "UniProtKB:P04626-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor tyrosine-protein kinase erbB-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P04626-1", "PR:P04626-1", "ENSEMBL:ENSP00000269571", "ENSEMBL:ENSP00000269571.4"], "information_content": 100.0}
{"id": "MONDO:0006615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sweat gland disorder", "equivalent_identifiers": ["MONDO:0006615", "DOID:1383", "EFO:1000772", "UMLS:C0038986", "UMLS:C0262643", "UMLS:C4020881", "MESH:D013543", "MEDDRA:10042653", "MEDDRA:10042654", "MEDDRA:10045827", "SNOMEDCT:88232005", "medgen:892310", "ICD10:L74.9", "ICD9:705.9", "HP:0000971"], "information_content": 71.7}
{"id": "MONDO:0006485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uterine carcinosarcoma", "equivalent_identifiers": ["MONDO:0006485", "DOID:6171", "EFO:1000613", "UMLS:C0035369", "UMLS:C0280630", "MESH:D012192", "MEDDRA:10007261", "MEDDRA:10007508", "MEDDRA:10038996", "MEDDRA:10038997", "MEDDRA:10061493", "NCIT:C42700", "SNOMEDCT:105635000", "SNOMEDCT:702369008", "medgen:83678"], "information_content": 85.5}
{"id": "MONDO:0002659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uveal cancer", "equivalent_identifiers": ["MONDO:0002659", "DOID:3479", "EFO:1001230", "UMLS:C3665670", "NCIT:C6105", "medgen:1772018"], "information_content": 70.6}
{"id": "MONDO:0006292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant mesothelioma", "equivalent_identifiers": ["MONDO:0006292", "DOID:1790", "OMIM:156240", "orphanet:50251", "EFO:1000355", "UMLS:C0278752", "UMLS:C0345967", "UMLS:C0392400", "UMLS:C1332338", "MESH:C562839", "MESH:D000086002", "MEDDRA:10027407", "MEDDRA:10027408", "MEDDRA:10027410", "NCIT:C27926", "NCIT:C4456", "NCIT:C7865", "NCIT:C8420", "SNOMEDCT:109378008", "SNOMEDCT:62064005", "medgen:91062", "icd11.foundation:369414280", "HP:0100001"], "information_content": 70.9}
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{"id": "UniProtKB:A0AB56DNF6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0AB56DNF6_HUMAN PR domain zinc finger protein 15 (trembl)", "equivalent_identifiers": ["UniProtKB:A0AB56DNF6", "ENSEMBL:ENSP00000269844", "ENSEMBL:ENSP00000269844.4"]}
{"id": "UniProtKB:P17858-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent 6-phosphofructokinase, liver type isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P17858-1", "PR:P17858-1", "ENSEMBL:ENSP00000269848", "ENSEMBL:ENSP00000269848.6"], "information_content": 100.0}
{"id": "NCBIGene:55527", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FEM1A", "equivalent_identifiers": ["NCBIGene:55527", "ENSEMBL:ENSG00000141965", "HGNC:16934", "OMIM:613538", "UMLS:C1424647", "UniProtKB:Q9BSK4", "PR:Q9BSK4", "ENSEMBL:ENSP00000269856", "ENSEMBL:ENSP00000269856.3", "UMLS:C1257616", "MESH:C444344"], "information_content": 92.8}
{"id": "MONDO:0010496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability-short stature-overweight syndrome", "equivalent_identifiers": ["MONDO:0010496", "DOID:0112056", "OMIM:300957", "orphanet:457240", "UMLS:C0796218", "medgen:901885"], "information_content": 100.0}
{"id": "UniProtKB:Q96Q77-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium and integrin-binding family member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q77-1", "PR:Q96Q77-1", "ENSEMBL:ENSP00000269878", "ENSEMBL:ENSP00000269878.3"], "information_content": 100.0}
{"id": "NCBIGene:125972", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CALR3", "equivalent_identifiers": ["NCBIGene:125972", "ENSEMBL:ENSG00000269058", "HGNC:20407", "OMIM:611414", "UMLS:C1426922", "UniProtKB:A0A140VJF7", "UniProtKB:Q96L12", "PR:Q96L12", "ENSEMBL:ENSP00000269881", "ENSEMBL:ENSP00000269881.3"], "information_content": 100.0}
{"id": "UniProtKB:Q99961-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endophilin-A2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99961-1", "PR:Q99961-1", "ENSEMBL:ENSP00000269886", "ENSEMBL:ENSP00000269886.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "doublesex- and mab-3-related transcription factor C2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXT2-1", "PR:Q8IXT2-1", "ENSEMBL:ENSP00000269945", "ENSEMBL:ENSP00000269945.2"], "information_content": 100.0}
{"id": "MONDO:0023227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gestational diabetes insipidus", "equivalent_identifiers": ["MONDO:0023227", "DOID:0081057", "UMLS:C2932666", "MESH:C548014", "medgen:444359"], "information_content": 100.0}
{"id": "NCBIGene:90324", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC97", "equivalent_identifiers": ["NCBIGene:90324", "ENSEMBL:ENSG00000142039", "HGNC:28289", "UMLS:C1824624", "UniProtKB:Q96F63", "PR:Q96F63", "ENSEMBL:ENSP00000269967", "ENSEMBL:ENSP00000269967.2"], "information_content": 100.0}
{"id": "NCBIGene:7596", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF45", "equivalent_identifiers": ["NCBIGene:7596", "ENSEMBL:ENSG00000124459", "HGNC:13111", "OMIM:194554", "UMLS:C1421801", "UniProtKB:Q02386", "PR:Q02386", "ENSEMBL:ENSP00000269973", "ENSEMBL:ENSP00000269973.4", "ENSEMBL:ENSP00000468579", "ENSEMBL:ENSP00000468579.1", "ENSEMBL:ENSP00000481895", "ENSEMBL:ENSP00000481895.1", "UMLS:C1430717", "MESH:C105105"], "information_content": 100.0}
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{"id": "UniProtKB:P12694-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P12694-1", "PR:P12694-1", "ENSEMBL:ENSP00000269980", "ENSEMBL:ENSP00000269980.2"], "information_content": 100.0}
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{"id": "MONDO:0013979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 19", "equivalent_identifiers": ["MONDO:0013979", "DOID:0110608", "OMIM:614935", "UMLS:C3543826", "medgen:762332"], "information_content": 100.0}
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{"id": "MONDO:0000572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recombinase activating gene 1 deficiency", "equivalent_identifiers": ["MONDO:0000572", "DOID:0060011"], "information_content": 100.0}
{"id": "MONDO:0009306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency with skin granulomas", "equivalent_identifiers": ["MONDO:0009306", "DOID:0112253", "OMIM:233650", "orphanet:157949", "UMLS:C2673536", "MESH:C567115", "medgen:435945"], "information_content": 100.0}
{"id": "MONDO:0014597", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 39", "equivalent_identifiers": ["MONDO:0014597", "DOID:0111969", "OMIM:616345", "orphanet:574918", "UMLS:C4225358", "SNOMEDCT:1269234000", "medgen:904167"], "information_content": 100.0}
{"id": "MONDO:0014445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 17", "equivalent_identifiers": ["MONDO:0014445", "DOID:0110139", "OMIM:615994", "UMLS:C3714980", "medgen:811538"], "information_content": 100.0}
{"id": "MONDO:0014673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 44", "equivalent_identifiers": ["MONDO:0014673", "DOID:0110267", "OMIM:616509", "UMLS:C4225300", "medgen:907487"], "information_content": 100.0}
{"id": "MONDO:0012395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 18", "equivalent_identifiers": ["MONDO:0012395", "DOID:0110238", "OMIM:610019", "UMLS:C1864908", "MESH:C535337", "medgen:351249"], "information_content": 100.0}
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{"id": "UniProtKB:P17181-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon alpha/beta receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P17181-1", "PR:P17181-1", "ENSEMBL:ENSP00000270139", "ENSEMBL:ENSP00000270139.3", "ENSEMBL:ENSP00000515348", "ENSEMBL:ENSP00000515348.1", "ENSEMBL:ENSP00000515372", "ENSEMBL:ENSP00000515372.1"], "information_content": 100.0}
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{"id": "MONDO:0032690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, growth deficiency, seizures, and brain malformations", "equivalent_identifiers": ["MONDO:0032690", "DOID:0081051", "OMIM:618346", "UMLS:C5193042", "medgen:1676229"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJW3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA (cytosine-5)-methyltransferase 3-like isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJW3-2", "PR:Q9UJW3-2", "ENSEMBL:ENSP00000270172", "ENSEMBL:ENSP00000270172.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96KG9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-terminal kinase-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96KG9-1", "PR:Q96KG9-1", "ENSEMBL:ENSP00000270176", "ENSEMBL:ENSP00000270176.5"], "information_content": 100.0}
{"id": "NCBIGene:1762", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DMWD", "equivalent_identifiers": ["NCBIGene:1762", "ENSEMBL:ENSG00000185800", "HGNC:2936", "OMIM:609857", "UMLS:C1414088", "UniProtKB:Q09019", "PR:Q09019", "ENSEMBL:ENSP00000270223", "ENSEMBL:ENSP00000270223.5", "UMLS:C0658853", "MESH:C081088", "UniProtKB:Q8WUW6"], "information_content": 95.4}
{"id": "DOID:0040014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corticosteroid allergy", "equivalent_identifiers": ["DOID:0040014"]}
{"id": "MONDO:0054860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 110", "equivalent_identifiers": ["MONDO:0054860", "DOID:0111644", "OMIM:618094", "UMLS:C4748162", "medgen:1648377"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBE0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SUMO-activating enzyme subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBE0-1", "PR:Q9UBE0-1", "ENSEMBL:ENSP00000270225", "ENSEMBL:ENSP00000270225.6"], "information_content": 100.0}
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{"id": "NCBIGene:79760", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GEMIN7", "equivalent_identifiers": ["NCBIGene:79760", "ENSEMBL:ENSG00000142252", "HGNC:20045", "OMIM:607419", "UMLS:C1426635", "UniProtKB:Q9H840", "PR:Q9H840", "ENSEMBL:ENSP00000270257", "ENSEMBL:ENSP00000270257.3", "ENSEMBL:ENSP00000375813", "ENSEMBL:ENSP00000375813.1", "ENSEMBL:ENSP00000465704", "ENSEMBL:ENSP00000465704.1", "ENSEMBL:ENSP00000466342", "ENSEMBL:ENSP00000466342.1", "UMLS:C1143922", "MESH:C466231"], "information_content": 100.0}
{"id": "NCBIGene:53822", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FXYD7", "equivalent_identifiers": ["NCBIGene:53822", "ENSEMBL:ENSG00000221946", "HGNC:4034", "OMIM:606684", "UMLS:C1414883", "UniProtKB:P58549", "PR:P58549", "ENSEMBL:ENSP00000270310", "ENSEMBL:ENSP00000270310.2"], "information_content": 95.4}
{"id": "NCBIGene:6531", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC6A3", "equivalent_identifiers": ["NCBIGene:6531", "ENSEMBL:ENSG00000142319", "HGNC:11049", "OMIM:126455", "UMLS:C1420213", "UniProtKB:Q01959", "PR:Q01959", "ENSEMBL:ENSP00000270349", "ENSEMBL:ENSP00000270349.9", "ENSEMBL:ENSP00000479597", "ENSEMBL:ENSP00000479597.1", "UMLS:C1439340", "MESH:C493214"], "information_content": 89.4}
{"id": "MONDO:0005640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "akinetic mutism", "equivalent_identifiers": ["MONDO:0005640", "DOID:4267", "EFO:0007138", "UMLS:C0001889", "MESH:D000405", "MEDDRA:10001542", "MEDDRA:10063030", "SNOMEDCT:53333005", "medgen:7942", "icd11.foundation:1448580674", "HP:0012672"], "information_content": 100.0}
{"id": "MONDO:0002017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "olivopontocerebellar atrophy", "equivalent_identifiers": ["MONDO:0002017", "DOID:14784", "UMLS:C0028968", "MESH:D009849", "MEDDRA:10057652", "NCIT:C84947", "SNOMEDCT:67761004", "medgen:10435", "icd11.foundation:1467584080", "HP:0002542"], "information_content": 100.0}
{"id": "MONDO:0016987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroacanthocytosis", "equivalent_identifiers": ["MONDO:0016987", "DOID:0050765", "orphanet:263440", "MESH:D054546", "NCIT:C84926", "icd11.foundation:1012724153"], "information_content": 87.2}
{"id": "NCBIGene:57140", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNPEPL1", "equivalent_identifiers": ["NCBIGene:57140", "ENSEMBL:ENSG00000142327", "HGNC:10079", "OMIM:605287", "UMLS:C1419435", "UniProtKB:Q9HAU8", "PR:Q9HAU8", "ENSEMBL:ENSP00000270357", "ENSEMBL:ENSP00000270357.4"], "information_content": 100.0}
{"id": "MONDO:0003083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "venous hemangioma", "equivalent_identifiers": ["MONDO:0003083", "DOID:467", "UMLS:C0265950", "UMLS:C0334532", "MEDDRA:10047229", "NCIT:C4296", "SNOMEDCT:234124003", "SNOMEDCT:403968005", "SNOMEDCT:56468002", "medgen:90801"], "information_content": 100.0}
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{"id": "UniProtKB:Q8TBB5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBB5-1", "PR:Q8TBB5-1", "ENSEMBL:ENSP00000270583", "ENSEMBL:ENSP00000270583.4", "ENSEMBL:ENSP00000457570", "ENSEMBL:ENSP00000457570.1"], "information_content": 100.0}
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{"id": "NCBIGene:2854", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR32", "equivalent_identifiers": ["NCBIGene:2854", "ENSEMBL:ENSG00000142511", "HGNC:4487", "OMIM:603195", "UMLS:C1333693", "UniProtKB:H9NIL6", "UniProtKB:O75388", "PR:O75388", "ENSEMBL:ENSP00000270590", "ENSEMBL:ENSP00000270590.3", "UMLS:C0757496", "MESH:C114479"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZG2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testicular acid phosphatase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZG2-1", "PR:Q9BZG2-1", "ENSEMBL:ENSP00000270593", "ENSEMBL:ENSP00000270593.1"], "information_content": 100.0}
{"id": "NCBIGene:6205", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS11", "equivalent_identifiers": ["NCBIGene:6205", "ENSEMBL:ENSG00000142534", "HGNC:10384", "OMIM:180471", "UMLS:C1419700", "UniProtKB:P62280", "PR:P62280", "ENSEMBL:ENSP00000270625", "ENSEMBL:ENSP00000270625.1", "UMLS:C1438642", "MESH:C402488"], "information_content": 84.8}
{"id": "NCBIGene:113091", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTH2", "equivalent_identifiers": ["NCBIGene:113091", "ENSEMBL:ENSG00000142538", "HGNC:30828", "OMIM:608386", "UMLS:C1842125", "UniProtKB:Q96A98", "PR:Q96A98", "ENSEMBL:ENSP00000270631", "ENSEMBL:ENSP00000270631.1"], "information_content": 95.4}
{"id": "NCBIGene:402665", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGLON5", "equivalent_identifiers": ["NCBIGene:402665", "ENSEMBL:ENSG00000142549", "HGNC:34550", "OMIM:618861", "UMLS:C2681611", "UniProtKB:A6NGN9", "PR:A6NGN9", "ENSEMBL:ENSP00000270642", "ENSEMBL:ENSP00000270642.8"], "information_content": 95.4}
{"id": "MONDO:0001706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral sarcoidosis", "equivalent_identifiers": ["MONDO:0001706", "DOID:13403", "UMLS:C0398676", "MEDDRA:10008131", "NCIT:C35441", "SNOMEDCT:111936002", "medgen:140767"], "information_content": 100.0}
{"id": "MONDO:0019378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "la Crosse encephalitis", "equivalent_identifiers": ["MONDO:0019378", "DOID:0050118", "orphanet:83483", "UMLS:C0014053", "UMLS:C0276379", "MESH:D004670", "MEDDRA:10007032", "MEDDRA:10007033", "MEDDRA:10014584", "SNOMEDCT:416442006", "SNOMEDCT:417075004", "SNOMEDCT:418531007", "SNOMEDCT:61094002", "medgen:547309", "icd11.foundation:1501615629", "ICD10:A83.5", "ICD9:062.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase PRDM16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAZ2-1", "PR:Q9HAZ2-1", "ENSEMBL:ENSP00000270722", "ENSEMBL:ENSP00000270722.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8IW93-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IW93-1", "PR:Q8IW93-1", "ENSEMBL:ENSP00000270747", "ENSEMBL:ENSP00000270747.3", "ENSEMBL:ENSP00000516855", "ENSEMBL:ENSP00000516855.1"], "information_content": 100.0}
{"id": "UniProtKB:P52209-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "6-phosphogluconate dehydrogenase, decarboxylating isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P52209-1", "PR:P52209-1", "ENSEMBL:ENSP00000270776", "ENSEMBL:ENSP00000270776.8"], "information_content": 100.0}
{"id": "NCBIGene:83442", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SH3BGRL3", "equivalent_identifiers": ["NCBIGene:83442", "ENSEMBL:ENSG00000142669", "HGNC:15568", "OMIM:615679", "UMLS:C1423580", "UniProtKB:Q9H299", "PR:Q9H299", "ENSEMBL:ENSP00000270792", "ENSEMBL:ENSP00000270792.5", "UMLS:C1438571", "MESH:C400565"], "information_content": 90.9}
{"id": "NCBIGene:58985", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL22RA1", "equivalent_identifiers": ["NCBIGene:58985", "ENSEMBL:ENSG00000142677", "HGNC:13700", "OMIM:605457", "UMLS:C1422150", "UniProtKB:Q8N6P7", "PR:Q8N6P7", "ENSEMBL:ENSP00000270800", "ENSEMBL:ENSP00000270800.1", "UMLS:C1698810"], "information_content": 92.8}
{"id": "MONDO:0006546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythematosquamous dermatosis", "equivalent_identifiers": ["MONDO:0006546", "DOID:9097", "EFO:1000695", "UMLS:C0014747", "MEDDRA:10015239", "NCIT:C34591", "SNOMEDCT:54792008", "medgen:5014", "ICD9:690"], "information_content": 100.0}
{"id": "UniProtKB:O00444-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase PLK4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00444-1", "PR:O00444-1", "ENSEMBL:ENSP00000270861", "ENSEMBL:ENSP00000270861.5"], "information_content": 100.0}
{"id": "UniProtKB:O75636-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ficolin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75636-1", "PR:O75636-1", "ENSEMBL:ENSP00000270879", "ENSEMBL:ENSP00000270879.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZM7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulointerstitial nephritis antigen-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZM7-1", "PR:Q9GZM7-1", "ENSEMBL:ENSP00000271064", "ENSEMBL:ENSP00000271064.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4M1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choline transporter-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4M1-1", "PR:Q8N4M1-1", "ENSEMBL:ENSP00000271227", "ENSEMBL:ENSP00000271227.6"], "information_content": 100.0}
{"id": "UniProtKB:Q5T0N5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "formin-binding protein 1-like isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T0N5-1", "PR:Q5T0N5-1", "ENSEMBL:ENSP00000271234", "ENSEMBL:ENSP00000271234.7"], "information_content": 100.0}
{"id": "MONDO:0008943", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 2", "equivalent_identifiers": ["MONDO:0008943", "DOID:0080061", "OMIM:213200", "orphanet:1170", "UMLS:C1859298", "MESH:C565865", "SNOMEDCT:715369006", "medgen:349134"], "information_content": 100.0}
{"id": "UniProtKB:P28066-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome subunit alpha type-5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P28066-1", "PR:P28066-1", "ENSEMBL:ENSP00000271308", "ENSEMBL:ENSP00000271308.4"], "information_content": 100.0}
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{"id": "MONDO:0007700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hawkinsinuria", "equivalent_identifiers": ["MONDO:0007700", "DOID:0111362", "OMIM:140350", "orphanet:2118", "UMLS:C2931042", "MESH:C535845", "SNOMEDCT:414380008", "medgen:419319", "icd11.foundation:786595759"], "information_content": 100.0}
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{"id": "MONDO:0005929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Maternity blues", "equivalent_identifiers": ["MONDO:0005929", "DOID:9478", "EFO:0007453", "UMLS:C0221074", "UMLS:C3251820", "MESH:D019052", "MEDDRA:10003968", "MEDDRA:10012394", "MEDDRA:10036235", "MEDDRA:10036271", "MEDDRA:10037289", "MEDDRA:10056393", "NCIT:C92852", "SNOMEDCT:279225001", "SNOMEDCT:58703003", "medgen:66359", "ICD10:F53.0"], "information_content": 100.0}
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{"id": "MONDO:0003615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nerve compression syndrome", "equivalent_identifiers": ["MONDO:0003615", "DOID:573", "EFO:0009487", "UMLS:C0027743", "UMLS:C1510429", "MESH:D009408", "MEDDRA:10014921", "MEDDRA:10088991", "NCIT:C27221", "SNOMEDCT:45781009", "medgen:266933", "HP:0012181"], "information_content": 87.2}
{"id": "NCBIGene:10262", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SF3B4", "equivalent_identifiers": ["NCBIGene:10262", "ENSEMBL:ENSG00000143368", "HGNC:10771", "OMIM:605593", "UMLS:C1419983", "UniProtKB:B3KUJ0", "UMLS:C1436244", "MESH:C486347", "UniProtKB:Q15427", "PR:Q15427", "ENSEMBL:ENSP00000271628", "ENSEMBL:ENSP00000271628.8"], "information_content": 87.2}
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{"id": "MONDO:0018760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DeSanto-Shinawi syndrome", "equivalent_identifiers": ["MONDO:0018760", "DOID:0081126", "orphanet:466943", "UMLS:C4225239", "SNOMEDCT:1187247007", "medgen:908218"], "information_content": 92.8}
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{"id": "UniProtKB:Q15047-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase SETDB1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15047-1", "PR:Q15047-1", "ENSEMBL:ENSP00000271640", "ENSEMBL:ENSP00000271640.5"], "information_content": 100.0}
{"id": "NCBIGene:1513", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTSK", "equivalent_identifiers": ["NCBIGene:1513", "ENSEMBL:ENSG00000143387", "HGNC:2536", "OMIM:601105", "UMLS:C1413815", "UniProtKB:P43235", "PR:P43235", "ENSEMBL:ENSP00000271651", "ENSEMBL:ENSP00000271651.3", "ENSEMBL:ENSP00000503723", "ENSEMBL:ENSP00000503723.1", "ENSEMBL:ENSP00000504176", "ENSEMBL:ENSP00000504176.1", "UMLS:C1744088", "MESH:C534130"], "information_content": 95.4}
{"id": "MONDO:0005541", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylolysis", "equivalent_identifiers": ["MONDO:0005541", "DOID:2300", "EFO:0005649", "UMLS:C0038018", "MESH:D013169", "MEDDRA:10052013", "MEDDRA:10087756", "NCIT:C35034", "SNOMEDCT:240221008", "medgen:21294", "icd11.foundation:790009325", "ICD10:M43.0", "HP:0003304"], "information_content": 92.8}
{"id": "NCBIGene:29956", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CERS2", "equivalent_identifiers": ["NCBIGene:29956", "ENSEMBL:ENSG00000143418", "HGNC:14076", "OMIM:606920", "UMLS:C1422392", "UniProtKB:Q96G23", "PR:Q96G23", "ENSEMBL:ENSP00000271688", "ENSEMBL:ENSP00000271688.6", "ENSEMBL:ENSP00000357950", "ENSEMBL:ENSP00000357950.5", "UMLS:C1098525", "MESH:C438311"], "information_content": 92.8}
{"id": "UniProtKB:Q7Z3K3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pogo transposable element with ZNF domain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3K3-1", "PR:Q7Z3K3-1", "ENSEMBL:ENSP00000271715", "ENSEMBL:ENSP00000271715.2", "ENSEMBL:ENSP00000390156", "ENSEMBL:ENSP00000390156.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H4A5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi phosphoprotein 3-like isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4A5-1", "PR:Q9H4A5-1", "ENSEMBL:ENSP00000271732", "ENSEMBL:ENSP00000271732.3"], "information_content": 100.0}
{"id": "MONDO:0012118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COG7-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012118", "DOID:0070257", "OMIM:608779", "orphanet:79333", "UMLS:C2931010", "MESH:C535754", "SNOMEDCT:717773005", "medgen:419311"], "information_content": 100.0}
{"id": "UniProtKB:O95259-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated delayed rectifier potassium channel KCNH1 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:O95259-1", "PR:O95259-1", "ENSEMBL:ENSP00000271751", "ENSEMBL:ENSP00000271751.4"], "information_content": 100.0}
{"id": "MONDO:0011095", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1D", "equivalent_identifiers": ["MONDO:0011095", "DOID:0110426", "OMIM:601494", "UMLS:C1832243", "MESH:C563306", "NCIT:C198599", "medgen:316943"], "information_content": 100.0}
{"id": "UniProtKB:P41214-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 2D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P41214-1", "PR:P41214-1", "ENSEMBL:ENSP00000271764", "ENSEMBL:ENSP00000271764.2"], "information_content": 100.0}
{"id": "MONDO:0011266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myotonic dystrophy type 2", "equivalent_identifiers": ["MONDO:0011266", "DOID:0050759", "OMIM:602668", "orphanet:606", "UMLS:C2931689", "MEDDRA:10090452", "NCIT:C84680", "SNOMEDCT:715317001", "medgen:419137", "icd11.foundation:1005849639", "ICD10:G71.1", "ICD9:359.2"], "information_content": 92.8}
{"id": "NCBIGene:49860", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRNN", "equivalent_identifiers": ["NCBIGene:49860", "ENSEMBL:ENSG00000143536", "HGNC:1230", "OMIM:611312", "UMLS:C1824796", "UniProtKB:Q9UBG3", "PR:Q9UBG3", "ENSEMBL:ENSP00000271835", "ENSEMBL:ENSP00000271835.3", "UMLS:C0963482", "MESH:C418764"], "information_content": 100.0}
{"id": "MONDO:0004980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atopic eczema", "equivalent_identifiers": ["MONDO:0004980", "DOID:3310", "OMIM:603165", "EFO:0000274", "UMLS:C0011615", "UMLS:C0086196", "UMLS:C1864155", "UMLS:C2242769", "UMLS:C4280605", "MESH:C566404", "MESH:D003876", "MEDDRA:10001711", "MEDDRA:10001712", "MEDDRA:10003639", "MEDDRA:10003641", "MEDDRA:10012434", "MEDDRA:10012438", "MEDDRA:10014188", "MEDDRA:10014191", "MEDDRA:10014198", "MEDDRA:10021747", "MEDDRA:10089069", "MEDDRA:10089311", "NCIT:C3001", "SNOMEDCT:200773006", "SNOMEDCT:200775004", "SNOMEDCT:24079001", "SNOMEDCT:90823000", "medgen:41502", "icd11.foundation:215767047", "ICD10:L20", "HP:0001047"], "information_content": 80.6}
{"id": "UniProtKB:O76095-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein JTB isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O76095-1", "PR:O76095-1", "ENSEMBL:ENSP00000271843", "ENSEMBL:ENSP00000271843.4"], "information_content": 100.0}
{"id": "NCBIGene:11000", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC27A3", "equivalent_identifiers": ["NCBIGene:11000", "ENSEMBL:ENSG00000143554", "HGNC:10997", "OMIM:604193", "UMLS:C1420165", "UniProtKB:Q5K4L6", "PR:Q5K4L6", "ENSEMBL:ENSP00000485585", "ENSEMBL:ENSP00000485585.1", "UMLS:C3810626", "UniProtKB:X6R3N0", "ENSEMBL:ENSP00000271857", "ENSEMBL:ENSP00000271857.2", "ENSEMBL:ENSP00000458504", "ENSEMBL:ENSP00000458504.1"]}
{"id": "MONDO:0014034", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GAND syndrome", "equivalent_identifiers": ["MONDO:0014034", "DOID:0070048", "OMIM:615074", "orphanet:363686", "UMLS:C3554448", "NCIT:C202606", "medgen:767362"], "information_content": 100.0}
{"id": "UniProtKB:Q8TEY5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic AMP-responsive element-binding protein 3-like protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEY5-1", "PR:Q8TEY5-1", "ENSEMBL:ENSP00000271889", "ENSEMBL:ENSP00000271889.4", "ENSEMBL:ENSP00000357592", "ENSEMBL:ENSP00000357592.1", "ENSEMBL:ENSP00000357596", "ENSEMBL:ENSP00000357596.3"], "information_content": 100.0}
{"id": "UniProtKB:O14815-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calpain-9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14815-1", "PR:O14815-1", "ENSEMBL:ENSP00000271971", "ENSEMBL:ENSP00000271971.2"], "information_content": 100.0}
{"id": "UniProtKB:P24666-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "low molecular weight phosphotyrosine protein phosphatase isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P24666-2", "PR:P24666-2", "ENSEMBL:ENSP00000272067", "ENSEMBL:ENSP00000272067.6"], "information_content": 100.0}
{"id": "UniProtKB:Q6IQ49-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "splicing regulator SDE2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IQ49-1", "PR:Q6IQ49-1", "ENSEMBL:ENSP00000272091", "ENSEMBL:ENSP00000272091.7"], "information_content": 100.0}
{"id": "MONDO:0007448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatographia", "equivalent_identifiers": ["MONDO:0007448", "DOID:743", "OMIM:125635", "EFO:1000685", "UMLS:C0343065", "UMLS:C1852145", "MESH:C536612", "MEDDRA:10012498", "MEDDRA:10012499", "MEDDRA:10012520", "MEDDRA:10012521", "MEDDRA:10084021", "MEDDRA:10088774", "NCIT:C111885", "SNOMEDCT:402410006", "SNOMEDCT:7632005", "medgen:342170", "ICD10:L50.3", "ICD9:708.3", "HP:0011971"], "information_content": 100.0}
{"id": "NCBIGene:149111", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNIH3", "equivalent_identifiers": ["NCBIGene:149111", "ENSEMBL:ENSG00000143786", "HGNC:26802", "UMLS:C1539113", "UniProtKB:Q8TBE1", "PR:Q8TBE1", "ENSEMBL:ENSP00000272133", "ENSEMBL:ENSP00000272133.3", "UMLS:C4310057", "MESH:C000613316"], "information_content": 95.4}
{"id": "NCBIGene:10637", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LEFTY1", "equivalent_identifiers": ["NCBIGene:10637", "ENSEMBL:ENSG00000243709", "HGNC:6552", "OMIM:603037", "UMLS:C1537560", "UniProtKB:O75610", "PR:O75610", "ENSEMBL:ENSP00000272134", "ENSEMBL:ENSP00000272134.5", "UMLS:C1334381", "MESH:C526161"], "information_content": 89.4}
{"id": "UniProtKB:Q9BU76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multiple myeloma tumor-associated protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BU76-1", "PR:Q9BU76-1", "ENSEMBL:ENSP00000272139", "ENSEMBL:ENSP00000272139.4"], "information_content": 100.0}
{"id": "NCBIGene:7483", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT9A", "equivalent_identifiers": ["NCBIGene:7483", "ENSEMBL:ENSG00000143816", "HGNC:12778", "OMIM:602863", "UMLS:C1421513", "UniProtKB:D9ZGG3", "UniProtKB:O14904", "PR:O14904", "ENSEMBL:ENSP00000272164", "ENSEMBL:ENSP00000272164.5", "UMLS:C1436371", "MESH:C110670"], "information_content": 89.4}
{"id": "UniProtKB:P00797-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "renin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P00797-1", "PR:P00797-1", "ENSEMBL:ENSP00000272190", "ENSEMBL:ENSP00000272190.8"], "information_content": 95.4}
{"id": "NCBIGene:127829", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARL8A", "equivalent_identifiers": ["NCBIGene:127829", "ENSEMBL:ENSG00000143862", "HGNC:25192", "OMIM:616597", "UMLS:C1824209", "UniProtKB:A0A087X2J2", "ENSEMBL:ENSP00000485023", "ENSEMBL:ENSP00000485023.1", "UMLS:C1739930", "MESH:C512609", "UniProtKB:Q96BM9", "PR:Q96BM9", "ENSEMBL:ENSP00000272217", "ENSEMBL:ENSP00000272217.2"], "information_content": 95.4}
{"id": "NCBIGene:130497", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OSR1", "equivalent_identifiers": ["NCBIGene:130497", "ENSEMBL:ENSG00000143867", "HGNC:8111", "OMIM:608891", "UMLS:C1418191", "UniProtKB:Q8TAX0", "PR:Q8TAX0", "ENSEMBL:ENSP00000272223", "ENSEMBL:ENSP00000272223.2", "UMLS:C1432605", "MESH:C498490"], "information_content": 92.8}
{"id": "NCBIGene:151449", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GDF7", "equivalent_identifiers": ["NCBIGene:151449", "ENSEMBL:ENSG00000143869", "HGNC:4222", "OMIM:604651", "UMLS:C1415037", "UniProtKB:Q75RY1", "UMLS:C1567813", "MESH:C499470", "UniProtKB:Q7Z4P5", "PR:Q7Z4P5", "ENSEMBL:ENSP00000272224", "ENSEMBL:ENSP00000272224.3"], "information_content": 100.0}
{"id": "NCBIGene:388", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHOB", "equivalent_identifiers": ["NCBIGene:388", "ENSEMBL:ENSG00000143878", "HGNC:668", "OMIM:165370", "UMLS:C0812235", "UniProtKB:P62745", "PR:P62745", "ENSEMBL:ENSP00000272233", "ENSEMBL:ENSP00000272233.4", "UMLS:C4721671", "UMLS:C5197561", "MESH:C000632954"], "information_content": 92.8}
{"id": "UniProtKB:Q8NEY4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-type proton ATPase subunit C 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEY4-1", "PR:Q8NEY4-1", "ENSEMBL:ENSP00000272238", "ENSEMBL:ENSP00000272238.4"], "information_content": 100.0}
{"id": "NCBIGene:130589", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GALM", "equivalent_identifiers": ["NCBIGene:130589", "ENSEMBL:ENSG00000143891", "HGNC:24063", "OMIM:137030", "UMLS:C1428343", "UniProtKB:A0A384MDW6", "UniProtKB:Q96C23", "PR:Q96C23", "ENSEMBL:ENSP00000272252", "ENSEMBL:ENSP00000272252.5", "UMLS:C5702566"], "information_content": 95.4}
{"id": "UniProtKB:Q9H221-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family G member 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H221-1", "PR:Q9H221-1", "ENSEMBL:ENSP00000272286", "ENSEMBL:ENSP00000272286.2"], "information_content": 100.0}
{"id": "NCBIGene:6233", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS27A", "equivalent_identifiers": ["NCBIGene:6233", "ENSEMBL:ENSG00000143947", "HGNC:10417", "OMIM:191343", "UMLS:C1419730", "UniProtKB:B2RDW1", "UniProtKB:P62979", "PR:P62979", "ENSEMBL:ENSP00000272317", "ENSEMBL:ENSP00000272317.6", "ENSEMBL:ENSP00000383981", "ENSEMBL:ENSP00000383981.3", "ENSEMBL:ENSP00000385659", "ENSEMBL:ENSP00000385659.1"], "information_content": 87.2}
{"id": "UniProtKB:O95876-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing and planar cell polarity effector protein fritz homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95876-1", "PR:O95876-1", "ENSEMBL:ENSP00000272321", "ENSEMBL:ENSP00000272321.7"], "information_content": 100.0}
{"id": "MONDO:0009008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart defect - tongue hamartoma - polysyndactyly syndrome", "equivalent_identifiers": ["MONDO:0009008", "DOID:0111591", "OMIM:217085", "orphanet:1338", "UMLS:C1857587", "UMLS:C2931046", "MESH:C535849", "MESH:C537137", "SNOMEDCT:783738002", "medgen:341804"], "information_content": 100.0}
{"id": "UniProtKB:Q9P1Q0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 54 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P1Q0-1", "PR:Q9P1Q0-1", "ENSEMBL:ENSP00000272322", "ENSEMBL:ENSP00000272322.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6UW15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regenerating islet-derived protein 3-gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UW15-1", "PR:Q6UW15-1", "ENSEMBL:ENSP00000272324", "ENSEMBL:ENSP00000272324.5", "ENSEMBL:ENSP00000377475", "ENSEMBL:ENSP00000377475.2"], "information_content": 100.0}
{"id": "NCBIGene:54465", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ETAA1", "equivalent_identifiers": ["NCBIGene:54465", "ENSEMBL:ENSG00000143971", "HGNC:24648", "OMIM:613196", "UMLS:C1825070", "UniProtKB:Q9NY74", "PR:Q9NY74", "ENSEMBL:ENSP00000272342", "ENSEMBL:ENSP00000272342.5", "UMLS:C1702130", "MESH:C508506"], "information_content": 100.0}
{"id": "UniProtKB:Q8N1N0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 4 member F isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1N0-1", "PR:Q8N1N0-1", "ENSEMBL:ENSP00000272367", "ENSEMBL:ENSP00000272367.2"], "information_content": 100.0}
{"id": "UniProtKB:O00470-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Meis1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00470-1", "PR:O00470-1", "ENSEMBL:ENSP00000272369", "ENSEMBL:ENSP00000272369.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9HC10-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "otoferlin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HC10-1", "PR:Q9HC10-1", "ENSEMBL:ENSP00000272371", "ENSEMBL:ENSP00000272371.2"], "information_content": 100.0}
{"id": "NCBIGene:129868", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM43", "equivalent_identifiers": ["NCBIGene:129868", "ENSEMBL:ENSG00000144015", "HGNC:19015", "UMLS:C1425952", "UniProtKB:Q96BQ3", "PR:Q96BQ3", "ENSEMBL:ENSP00000272395", "ENSEMBL:ENSP00000272395.2", "ENSEMBL:ENSP00000517819", "ENSEMBL:ENSP00000517819.1", "UMLS:C5197294", "MESH:C000631704"], "information_content": 100.0}
{"id": "MONDO:0004348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal telangiectasia", "equivalent_identifiers": ["MONDO:0004348", "DOID:7736", "UMLS:C0154835", "MEDDRA:10038899", "SNOMEDCT:84884003", "medgen:57598", "ICD9:362.15", "HP:0007763"], "information_content": 95.4}
{"id": "MONDO:0030354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facioscapulohumeral muscular dystrophy 3, digenic", "equivalent_identifiers": ["MONDO:0030354", "DOID:0060917", "OMIM:619477", "UMLS:C5561959", "medgen:1794169"], "information_content": 100.0}
{"id": "UniProtKB:P82675-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ribosomal subunit protein uS5m isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P82675-1", "PR:P82675-1", "ENSEMBL:ENSP00000272418", "ENSEMBL:ENSP00000272418.2"], "information_content": 100.0}
{"id": "NCBIGene:9027", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAT8", "equivalent_identifiers": ["NCBIGene:9027", "ENSEMBL:ENSG00000144035", "HGNC:18069", "OMIM:606716", "UMLS:C1425280", "UniProtKB:Q9UHE5", "PR:Q9UHE5", "ENSEMBL:ENSP00000272425", "ENSEMBL:ENSP00000272425.3", "ENSEMBL:ENSP00000516938", "ENSEMBL:ENSP00000516938.1", "UMLS:C0761483", "MESH:C116373"], "information_content": 95.4}
{"id": "UniProtKB:Q9BST9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rhotekin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BST9-1", "PR:Q9BST9-1", "ENSEMBL:ENSP00000272430", "ENSEMBL:ENSP00000272430.5"], "information_content": 100.0}
{"id": "NCBIGene:113419", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX261", "equivalent_identifiers": ["NCBIGene:113419", "ENSEMBL:ENSG00000144043", "HGNC:30712", "OMIM:618562", "UMLS:C1539949", "UniProtKB:Q6UWH6", "PR:Q6UWH6", "ENSEMBL:ENSP00000272438", "ENSEMBL:ENSP00000272438.4"], "information_content": 95.4}
{"id": "UniProtKB:O75319-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA/RNP complex-1-interacting phosphatase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O75319-3", "PR:O75319-3", "ENSEMBL:ENSP00000272444", "ENSEMBL:ENSP00000272444.4", "ENSEMBL:ENSP00000516943", "ENSEMBL:ENSP00000516943.1"], "information_content": 100.0}
{"id": "UniProtKB:O75897-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sulfotransferase 1C4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75897-1", "PR:O75897-1", "ENSEMBL:ENSP00000272452", "ENSEMBL:ENSP00000272452.2"], "information_content": 100.0}
{"id": "NCBIGene:7851", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MALL", "equivalent_identifiers": ["NCBIGene:7851", "ENSEMBL:ENSG00000144063", "HGNC:6818", "OMIM:602022", "UMLS:C1416990", "UniProtKB:Q13021", "PR:Q13021", "ENSEMBL:ENSP00000272462", "ENSEMBL:ENSP00000272462.2", "UMLS:C1308416", "MESH:C110862"], "information_content": 100.0}
{"id": "UniProtKB:P11234-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Ral-B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11234-1", "PR:P11234-1", "ENSEMBL:ENSP00000272519", "ENSEMBL:ENSP00000272519.4", "ENSEMBL:ENSP00000414224", "ENSEMBL:ENSP00000414224.1"], "information_content": 100.0}
{"id": "NCBIGene:165257", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1QL2", "equivalent_identifiers": ["NCBIGene:165257", "ENSEMBL:ENSG00000144119", "HGNC:24181", "OMIM:614330", "UMLS:C1538976", "UniProtKB:A0A3B0IND4", "UniProtKB:Q7Z5L3", "PR:Q7Z5L3", "ENSEMBL:ENSP00000272520", "ENSEMBL:ENSP00000272520.3"], "information_content": 95.4}
{"id": "MONDO:0005445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kala-Azar", "equivalent_identifiers": ["MONDO:0005445", "DOID:9146", "OMIM.PS:608207", "EFO:0005045", "UMLS:C0023290", "MESH:D007898", "MEDDRA:10023275", "MEDDRA:10024196", "MEDDRA:10024200", "MEDDRA:10047505", "MEDDRA:10054164", "NCIT:C34771", "SNOMEDCT:186803007", "medgen:44098", "icd11.foundation:1646564717", "ICD10:B55.0", "ICD9:085.0"], "information_content": 90.9}
{"id": "NCBIGene:6574", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC20A1", "equivalent_identifiers": ["NCBIGene:6574", "ENSEMBL:ENSG00000144136", "HGNC:10946", "OMIM:137570", "UMLS:C1456395", "UniProtKB:A7LNJ1", "UMLS:C1451648", "MESH:C493586", "UniProtKB:Q8WUM9", "PR:Q8WUM9", "ENSEMBL:ENSP00000272542", "ENSEMBL:ENSP00000272542.3"], "information_content": 86.3}
{"id": "UniProtKB:Q16281-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic nucleotide-gated channel alpha-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16281-1", "PR:Q16281-1", "ENSEMBL:ENSP00000272602", "ENSEMBL:ENSP00000272602.2"], "information_content": 100.0}
{"id": "NCBIGene:23190", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBXN4", "equivalent_identifiers": ["NCBIGene:23190", "ENSEMBL:ENSG00000144224", "HGNC:14860", "OMIM:611216", "UMLS:C1423004", "UniProtKB:Q92575", "PR:Q92575", "ENSEMBL:ENSP00000272638", "ENSEMBL:ENSP00000272638.9", "UMLS:C1871271", "MESH:C515819"], "information_content": 90.9}
{"id": "NCBIGene:11249", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NXPH2", "equivalent_identifiers": ["NCBIGene:11249", "ENSEMBL:ENSG00000144227", "HGNC:8076", "OMIM:604635", "UMLS:C1417903", "UniProtKB:O95156", "PR:O95156", "ENSEMBL:ENSP00000272641", "ENSEMBL:ENSP00000272641.3", "UMLS:C1609359"], "information_content": 100.0}
{"id": "MONDO:0001560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic pyloric stenosis", "equivalent_identifiers": ["MONDO:0001560", "DOID:12638", "EFO:0004707", "MESH:D046248", "NCIT:C98952", "SNOMEDCT:48644003", "ICD10:Q40.0", "ICD9:750.5"], "information_content": 85.5}
{"id": "NCBIGene:5433", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR2D", "equivalent_identifiers": ["NCBIGene:5433", "ENSEMBL:ENSG00000144231", "HGNC:9191", "OMIM:606017", "UMLS:C1418742", "UniProtKB:O15514", "PR:O15514", "ENSEMBL:ENSP00000272645", "ENSEMBL:ENSP00000272645.3", "UMLS:C1679762", "MESH:C505957"], "information_content": 95.4}
{"id": "UniProtKB:Q0VDG4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "secernin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q0VDG4-1", "PR:Q0VDG4-1", "ENSEMBL:ENSP00000272732", "ENSEMBL:ENSP00000272732.6"], "information_content": 100.0}
{"id": "MONDO:0009144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ebstein anomaly", "equivalent_identifiers": ["MONDO:0009144", "DOID:14289", "OMIM:224700", "orphanet:1880", "EFO:0007244", "UMLS:C0013481", "MESH:D004437", "MEDDRA:10014075", "NCIT:C84681", "SNOMEDCT:204357006", "medgen:4435", "icd11.foundation:307157712", "ICD10:Q22.5", "ICD9:746.2", "HP:0010316"], "information_content": 95.4}
{"id": "UniProtKB:Q9UIK5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tomoregulin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIK5-1", "PR:Q9UIK5-1", "ENSEMBL:ENSP00000272771", "ENSEMBL:ENSP00000272771.5"], "information_content": 100.0}
{"id": "NCBIGene:5746", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTH2R", "equivalent_identifiers": ["NCBIGene:5746", "ENSEMBL:ENSG00000144407", "HGNC:9609", "OMIM:601469", "UMLS:C1419074", "UniProtKB:B4DFN8", "ENSEMBL:ENSP00000482485", "ENSEMBL:ENSP00000482485.1", "UniProtKB:P49190", "PR:P49190", "ENSEMBL:ENSP00000272847", "ENSEMBL:ENSP00000272847.2"], "information_content": 92.8}
{"id": "NCBIGene:130749", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPO", "equivalent_identifiers": ["NCBIGene:130749", "ENSEMBL:ENSG00000144410", "HGNC:21011", "OMIM:609563", "UMLS:C1427240", "UniProtKB:Q8IVL8", "PR:Q8IVL8", "ENSEMBL:ENSP00000272852", "ENSEMBL:ENSP00000272852.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86UK0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glucosylceramide transporter ABCA12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UK0-1", "PR:Q86UK0-1", "ENSEMBL:ENSP00000272895", "ENSEMBL:ENSP00000272895.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBK3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "formylglycine-generating enzyme isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBK3-1", "PR:Q8NBK3-1", "ENSEMBL:ENSP00000272902", "ENSEMBL:ENSP00000272902.5"], "information_content": 100.0}
{"id": "NCBIGene:57007", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACKR3", "equivalent_identifiers": ["NCBIGene:57007", "ENSEMBL:ENSG00000144476", "HGNC:23692", "OMIM:610376", "UMLS:C1835886", "UniProtKB:P25106", "PR:P25106", "ENSEMBL:ENSP00000272928", "ENSEMBL:ENSP00000272928.3", "UMLS:C1259316", "MESH:C501896"], "information_content": 95.4}
{"id": "UniProtKB:Q96HZ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription cofactor HES-6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HZ4-1", "PR:Q96HZ4-1", "ENSEMBL:ENSP00000272937", "ENSEMBL:ENSP00000272937.5"], "information_content": 100.0}
{"id": "UniProtKB:P20339-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-5A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P20339-1", "PR:P20339-1", "ENSEMBL:ENSP00000273047", "ENSEMBL:ENSP00000273047.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZU7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZU7-1", "PR:Q9GZU7-1", "ENSEMBL:ENSP00000273062", "ENSEMBL:ENSP00000273062.2"], "information_content": 100.0}
{"id": "UniProtKB:P48751-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anion exchange protein 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P48751-3", "PR:P48751-3", "ENSEMBL:ENSP00000273063", "ENSEMBL:ENSP00000273063.6"], "information_content": 100.0}
{"id": "MONDO:0019350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spherocytosis", "equivalent_identifiers": ["MONDO:0019350", "DOID:12971", "orphanet:822", "UMLS:C0037889", "MESH:D013103", "MEDDRA:10002079", "MEDDRA:10019904", "MEDDRA:10041509", "MEDDRA:10054633", "MEDDRA:10055201", "MEDDRA:10080224", "NCIT:C97074", "SNOMEDCT:55995005", "medgen:52450", "icd11.foundation:1305248013", "ICD10:D58.0", "ICD9:282.0"], "information_content": 87.2}
{"id": "MONDO:0010933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 4", "equivalent_identifiers": ["MONDO:0010933", "DOID:0110498", "OMIM:600791", "UMLS:C3538946", "MESH:C566366", "NCIT:C158787", "medgen:761234"], "information_content": 100.0}
{"id": "UniProtKB:Q8N490-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable hydrolase PNKD isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N490-1", "PR:Q8N490-1", "ENSEMBL:ENSP00000273077", "ENSEMBL:ENSP00000273077.4"], "information_content": 100.0}
{"id": "NCBIGene:51143", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYNC1LI1", "equivalent_identifiers": ["NCBIGene:51143", "ENSEMBL:ENSG00000144635", "HGNC:18745", "OMIM:615890", "UMLS:C1825008", "UniProtKB:B3KM42", "UniProtKB:E9PHI6", "ENSEMBL:ENSP00000407279", "ENSEMBL:ENSP00000407279.2", "UMLS:C1447944", "MESH:C424131", "UniProtKB:Q9Y6G9", "PR:Q9Y6G9", "ENSEMBL:ENSP00000273130", "ENSEMBL:ENSP00000273130.4"], "information_content": 95.4}
{"id": "NCBIGene:9389", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC22A14", "equivalent_identifiers": ["NCBIGene:9389", "ENSEMBL:ENSG00000144671", "HGNC:8495", "OMIM:604048", "UMLS:C1418183", "UniProtKB:Q9Y267", "PR:Q9Y267", "ENSEMBL:ENSP00000273173", "ENSEMBL:ENSP00000273173.4", "ENSEMBL:ENSP00000396283", "ENSEMBL:ENSP00000396283.1", "UMLS:C4743199", "MESH:C000628682"], "information_content": 100.0}
{"id": "UniProtKB:O15194-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CTD small phosphatase-like protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15194-1", "PR:O15194-1", "ENSEMBL:ENSP00000273179", "ENSEMBL:ENSP00000273179.5"], "information_content": 100.0}
{"id": "NCBIGene:6769", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STAC", "equivalent_identifiers": ["NCBIGene:6769", "ENSEMBL:ENSG00000144681", "HGNC:11353", "OMIM:602317", "UMLS:C1420447", "UniProtKB:B4DR96", "UMLS:C0533604", "MESH:C103302", "UniProtKB:B4DZ13", "UniProtKB:E9PEA7", "ENSEMBL:ENSP00000393713", "ENSEMBL:ENSP00000393713.2", "UniProtKB:Q8WUK8", "UniProtKB:Q99469", "PR:Q99469", "ENSEMBL:ENSP00000273183", "ENSEMBL:ENSP00000273183.3"], "information_content": 100.0}
{"id": "NCBIGene:10550", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARL6IP5", "equivalent_identifiers": ["NCBIGene:10550", "ENSEMBL:ENSG00000144746", "HGNC:16937", "OMIM:605709", "UMLS:C1538931", "UniProtKB:O75915", "PR:O75915", "ENSEMBL:ENSP00000273258", "ENSEMBL:ENSP00000273258.3", "UMLS:C1450898", "MESH:C484566"], "information_content": 95.4}
{"id": "UniProtKB:Q96JA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeats and immunoglobulin-like domains protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JA1-1", "PR:Q96JA1-1", "ENSEMBL:ENSP00000273261", "ENSEMBL:ENSP00000273261.3"], "information_content": 100.0}
{"id": "UniProtKB:P19827-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inter-alpha-trypsin inhibitor heavy chain H1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P19827-1", "PR:P19827-1", "ENSEMBL:ENSP00000273283", "ENSEMBL:ENSP00000273283.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9HBL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat and transmembrane domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBL6-1", "PR:Q9HBL6-1", "ENSEMBL:ENSP00000273286", "ENSEMBL:ENSP00000273286.5"], "information_content": 100.0}
{"id": "MONDO:0009711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital fiber-type disproportion myopathy", "equivalent_identifiers": ["MONDO:0009711", "DOID:0080102", "orphanet:2020", "UMLS:C0546264", "NCIT:C120046", "SNOMEDCT:240084007", "medgen:108177"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y2B0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein canopy homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2B0-1", "PR:Q9Y2B0-1", "ENSEMBL:ENSP00000273308", "ENSEMBL:ENSP00000273308.4"], "information_content": 100.0}
{"id": "NCBIGene:8994", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIMD1", "equivalent_identifiers": ["NCBIGene:8994", "ENSEMBL:ENSG00000144791", "HGNC:6612", "OMIM:604543", "UMLS:C1334341", "UniProtKB:Q9UGP4", "PR:Q9UGP4", "ENSEMBL:ENSP00000273317", "ENSEMBL:ENSP00000273317.4", "UMLS:C0893776", "MESH:C403807"], "information_content": 95.4}
{"id": "UniProtKB:Q9P0L1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein with KRAB and SCAN domains 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0L1-1", "PR:Q9P0L1-1", "ENSEMBL:ENSP00000273320", "ENSEMBL:ENSP00000273320.3", "ENSEMBL:ENSP00000395524", "ENSEMBL:ENSP00000395524.1", "ENSEMBL:ENSP00000485942", "ENSEMBL:ENSP00000485942.1", "ENSEMBL:ENSP00000485948", "ENSEMBL:ENSP00000485948.1"], "information_content": 100.0}
{"id": "MONDO:0007734", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 4", "equivalent_identifiers": ["MONDO:0007734", "DOID:0110880", "OMIM:142946", "UMLS:C1840528", "MESH:C564180", "NCIT:C75475", "medgen:374488"], "information_content": 90.9}
{"id": "NCBIGene:84873", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADGRG7", "equivalent_identifiers": ["NCBIGene:84873", "ENSEMBL:ENSG00000144820", "HGNC:19241", "OMIM:612307", "UMLS:C1426108", "UniProtKB:B7Z303", "UniProtKB:E9PHI0", "ENSEMBL:ENSP00000419788", "ENSEMBL:ENSP00000419788.1", "UniProtKB:Q6ZMH4", "UniProtKB:Q96K78", "PR:Q96K78", "ENSEMBL:ENSP00000273352", "ENSEMBL:ENSP00000273352.3"], "information_content": 100.0}
{"id": "NCBIGene:22989", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYH15", "equivalent_identifiers": ["NCBIGene:22989", "ENSEMBL:ENSG00000144821", "HGNC:31073", "OMIM:609929", "UMLS:C1538029", "UniProtKB:A0A8I5KXJ3", "UniProtKB:Q9Y2K3", "PR:Q9Y2K3", "ENSEMBL:ENSP00000273353", "ENSEMBL:ENSP00000273353.4", "ENSEMBL:ENSP00000508967", "ENSEMBL:ENSP00000508967.1", "UMLS:C5197468", "MESH:C000632485"], "information_content": 95.4}
{"id": "MONDO:0015240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "digitotalar dysmorphism", "equivalent_identifiers": ["MONDO:0015240", "DOID:0111596", "orphanet:1146", "MESH:C565097", "icd11.foundation:1679749810"], "information_content": 90.9}
{"id": "UniProtKB:Q9NUJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyl-protein thioesterase ABHD10, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUJ1-1", "PR:Q9NUJ1-1", "ENSEMBL:ENSP00000273359", "ENSEMBL:ENSP00000273359.3"], "information_content": 100.0}
{"id": "MONDO:0009415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoglycemia, leucine-induced", "equivalent_identifiers": ["MONDO:0009415", "DOID:0112262", "OMIM:240800", "EFO:0006856", "UMLS:C0271714", "MESH:C537150", "SNOMEDCT:62151007", "medgen:82888"], "information_content": 100.0}
{"id": "MONDO:0044299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myasthenic syndrome, congenital, 22", "equivalent_identifiers": ["MONDO:0044299", "DOID:0080587", "OMIM:616224", "UMLS:C4479088", "medgen:1393545"], "information_content": 100.0}
{"id": "UniProtKB:Q53H76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipase A1 member A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q53H76-1", "PR:Q53H76-1", "ENSEMBL:ENSP00000273371", "ENSEMBL:ENSP00000273371.4"], "information_content": 100.0}
{"id": "NCBIGene:285282", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RABL3", "equivalent_identifiers": ["NCBIGene:285282", "ENSEMBL:ENSG00000144840", "HGNC:18072", "OMIM:618542", "UMLS:C1425283", "UniProtKB:C9JXM3", "ENSEMBL:ENSP00000419986", "ENSEMBL:ENSP00000419986.1", "UniProtKB:Q5HYI8", "PR:Q5HYI8", "ENSEMBL:ENSP00000273375", "ENSEMBL:ENSP00000273375.4", "UMLS:C5401454"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z4T9-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 91 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4T9-7", "PR:Q7Z4T9-7", "ENSEMBL:ENSP00000273390", "ENSEMBL:ENSP00000273390.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BWV1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "brother of CDO isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWV1-3", "PR:Q9BWV1-3", "ENSEMBL:ENSP00000273395", "ENSEMBL:ENSP00000273395.4", "ENSEMBL:ENSP00000507783", "ENSEMBL:ENSP00000507783.1"], "information_content": 100.0}
{"id": "MONDO:0005341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin basal cell carcinoma", "equivalent_identifiers": ["MONDO:0005341", "DOID:2513", "UMLS:C0007117", "UMLS:C1368295", "UMLS:C1862314", "UMLS:C4721806", "MEDDRA:10004146", "MEDDRA:10004150", "MEDDRA:10007286", "MEDDRA:10039208", "MEDDRA:10077422", "NCIT:C2921", "NCIT:C7586", "SNOMEDCT:1338007", "SNOMEDCT:252995000", "SNOMEDCT:254701007", "SNOMEDCT:275265005", "medgen:1648304", "KEGG.DISEASE:05217", "HP:0002671"], "information_content": 73.0}
{"id": "UniProtKB:P38606-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-type proton ATPase catalytic subunit A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P38606-1", "PR:P38606-1", "ENSEMBL:ENSP00000273398", "ENSEMBL:ENSP00000273398.3", "ENSEMBL:ENSP00000515542", "ENSEMBL:ENSP00000515542.1", "ENSEMBL:ENSP00000515547", "ENSEMBL:ENSP00000515547.1", "ENSEMBL:ENSP00000515548", "ENSEMBL:ENSP00000515548.1"], "information_content": 100.0}
{"id": "UniProtKB:O75891-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic 10-formyltetrahydrofolate dehydrogenase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O75891-3", "PR:O75891-3", "ENSEMBL:ENSP00000273450", "ENSEMBL:ENSP00000273450.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBF6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RING-box protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBF6-1", "PR:Q9UBF6-1", "ENSEMBL:ENSP00000273480", "ENSEMBL:ENSP00000273480.3"], "information_content": 95.4}
{"id": "NCBIGene:2495", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FTH1", "equivalent_identifiers": ["NCBIGene:2495", "ENSEMBL:ENSG00000167996", "HGNC:3976", "OMIM:134770", "UMLS:C1414833", "UniProtKB:P02794", "PR:P02794", "ENSEMBL:ENSP00000273550", "ENSEMBL:ENSP00000273550.7", "ENSEMBL:ENSP00000484477", "ENSEMBL:ENSP00000484477.1", "UMLS:C1448299", "MESH:C454461"], "information_content": 90.9}
{"id": "UniProtKB:P48728-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aminomethyltransferase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48728-1", "PR:P48728-1", "ENSEMBL:ENSP00000273588", "ENSEMBL:ENSP00000273588.3"], "information_content": 100.0}
{"id": "NCBIGene:25864", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABHD14A", "equivalent_identifiers": ["NCBIGene:25864", "ENSEMBL:ENSG00000248487", "HGNC:24538", "OMIM:618771", "UMLS:C1538897", "UniProtKB:Q9BUJ0", "PR:Q9BUJ0", "ENSEMBL:ENSP00000273596", "ENSEMBL:ENSP00000273596.3", "UMLS:C1434436", "MESH:C481062"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSH3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nicolin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSH3-1", "PR:Q9BSH3-1", "ENSEMBL:ENSP00000273598", "ENSEMBL:ENSP00000273598.4", "ENSEMBL:ENSP00000413115", "ENSEMBL:ENSP00000413115.1"], "information_content": 100.0}
{"id": "NCBIGene:90226", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UCN2", "equivalent_identifiers": ["NCBIGene:90226", "ENSEMBL:ENSG00000145040", "HGNC:18414", "OMIM:605902", "UMLS:C1540159", "UniProtKB:Q96RP3", "PR:Q96RP3", "ENSEMBL:ENSP00000273610", "ENSEMBL:ENSP00000273610.3", "UMLS:C0966377", "MESH:C426705"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2K9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-binding protein 5-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2K9-1", "PR:Q9Y2K9-1", "ENSEMBL:ENSP00000273666", "ENSEMBL:ENSP00000273666.6", "ENSEMBL:ENSP00000516710", "ENSEMBL:ENSP00000516710.1"], "information_content": 100.0}
{"id": "MONDO:0044315", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniosynostosis 7", "equivalent_identifiers": ["MONDO:0044315", "DOID:0060912", "OMIM:617439", "UMLS:C4479496", "medgen:1392447"], "information_content": 100.0}
{"id": "UniProtKB:Q96CJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ELL-associated factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CJ1-1", "PR:Q96CJ1-1", "ENSEMBL:ENSP00000273668", "ENSEMBL:ENSP00000273668.2"], "information_content": 100.0}
{"id": "DOID:9373", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postural kyphosis", "equivalent_identifiers": ["DOID:9373"]}
{"id": "UniProtKB:Q96DZ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane 4 L6 family member 19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DZ7-1", "PR:Q96DZ7-1", "ENSEMBL:ENSP00000273695", "ENSEMBL:ENSP00000273695.4"], "information_content": 100.0}
{"id": "MONDO:0014760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TFRC-related combined immunodeficiency", "equivalent_identifiers": ["MONDO:0014760", "DOID:0111948", "OMIM:616740", "orphanet:476113", "UMLS:C5568133", "SNOMEDCT:1179288008", "medgen:1799556"], "information_content": 100.0}
{"id": "NCBIGene:197", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AHSG", "equivalent_identifiers": ["NCBIGene:197", "ENSEMBL:ENSG00000145192", "HGNC:349", "OMIM:138680", "UMLS:C1412296", "UniProtKB:C9JV77", "ENSEMBL:ENSP00000273784", "ENSEMBL:ENSP00000273784.5", "UniProtKB:P02765", "PR:P02765", "ENSEMBL:ENSP00000393887", "ENSEMBL:ENSP00000393887.2", "UMLS:C1138314", "MESH:C556354"]}
{"id": "MONDO:0008302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central precocious puberty 1", "equivalent_identifiers": ["MONDO:0008302", "DOID:0112310", "OMIM:176400", "UMLS:C3805879", "medgen:812209"], "information_content": 100.0}
{"id": "NCBIGene:1609", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DGKQ", "equivalent_identifiers": ["NCBIGene:1609", "ENSEMBL:ENSG00000145214", "HGNC:2856", "OMIM:601207", "UMLS:C1414036", "UniProtKB:A0A140VKC1", "UniProtKB:P52824", "PR:P52824", "ENSEMBL:ENSP00000273814", "ENSEMBL:ENSP00000273814.3", "UniProtKB:Q59FF7"], "information_content": 100.0}
{"id": "UniProtKB:Q03188-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centromere protein C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q03188-1", "PR:Q03188-1", "ENSEMBL:ENSP00000273853", "ENSEMBL:ENSP00000273853.6"], "information_content": 100.0}
{"id": "MONDO:0005388", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary biliary cholangitis", "equivalent_identifiers": ["MONDO:0005388", "DOID:12236", "OMIM.PS:109720", "orphanet:186", "EFO:0004267", "EFO:1001486", "UMLS:C0008312", "UMLS:C0023892", "MESH:D008105", "MEDDRA:10004659", "MEDDRA:10004660", "MEDDRA:10004661", "MEDDRA:10009024", "MEDDRA:10009210", "MEDDRA:10019137", "MEDDRA:10036680", "MEDDRA:10080429", "NCIT:C27167", "NCIT:C51225", "SNOMEDCT:1761006", "SNOMEDCT:31712002", "medgen:3035", "icd11.foundation:649193479", "ICD10:K74.3", "ICD10:K74.5", "ICD9:571.6", "HP:0002613"], "information_content": 88.2}
{"id": "MONDO:0012382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinemic hypoglycemia, familial, 4", "equivalent_identifiers": ["MONDO:0012382", "DOID:0070215", "OMIM:609975", "orphanet:71212", "UMLS:C1864948", "UMLS:C4303473", "MESH:C566493", "SNOMEDCT:721236002", "medgen:400646"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5Q5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "atrial natriuretic peptide-converting enzyme isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5Q5-1", "PR:Q9Y5Q5-1", "ENSEMBL:ENSP00000273857", "ENSEMBL:ENSP00000273857.4"], "information_content": 100.0}
{"id": "MONDO:0013210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 25", "equivalent_identifiers": ["MONDO:0013210", "DOID:0110483", "OMIM:613285", "UMLS:C1414017", "medgen:237587"], "information_content": 100.0}
{"id": "UniProtKB:Q9P241-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid-transporting ATPase VD isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P241-1", "PR:Q9P241-1", "ENSEMBL:ENSP00000273859", "ENSEMBL:ENSP00000273859.3"], "information_content": 100.0}
{"id": "MONDO:0013632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 33", "equivalent_identifiers": ["MONDO:0013632", "DOID:0110562", "OMIM:614211", "UMLS:C3887930", "medgen:854638"], "information_content": 100.0}
{"id": "NCBIGene:201780", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC10A4", "equivalent_identifiers": ["NCBIGene:201780", "ENSEMBL:ENSG00000145248", "HGNC:22980", "OMIM:618563", "UMLS:C1427832", "UniProtKB:Q96EP9", "PR:Q96EP9", "ENSEMBL:ENSP00000273861", "ENSEMBL:ENSP00000273861.4", "UMLS:C4279315", "MESH:C000605989"], "information_content": 95.4}
{"id": "NCBIGene:345274", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC10A6", "equivalent_identifiers": ["NCBIGene:345274", "ENSEMBL:ENSG00000145283", "HGNC:30603", "OMIM:613366", "UMLS:C1822739", "UniProtKB:Q3KNW5", "PR:Q3KNW5", "ENSEMBL:ENSP00000273905", "ENSEMBL:ENSP00000273905.6"], "information_content": 100.0}
{"id": "MONDO:0002060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intraductal papilloma", "equivalent_identifiers": ["MONDO:0002060", "DOID:1627", "UMLS:C0206713", "MESH:D018300", "NCIT:C3785", "SNOMEDCT:5244003", "medgen:61667", "icd11.foundation:288706574"], "information_content": 82.6}
{"id": "UniProtKB:Q9UHY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "enolase-phosphatase E1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHY7-1", "PR:Q9UHY7-1", "ENSEMBL:ENSP00000273920", "ENSEMBL:ENSP00000273920.3"], "information_content": 100.0}
{"id": "NCBIGene:85438", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CABS1", "equivalent_identifiers": ["NCBIGene:85438", "ENSEMBL:ENSG00000145309", "HGNC:30710", "OMIM:618600", "UMLS:C1824178", "UniProtKB:Q96KC9", "PR:Q96KC9", "ENSEMBL:ENSP00000273936", "ENSEMBL:ENSP00000273936.4", "UMLS:C4042043", "MESH:C000598353"], "information_content": 100.0}
{"id": "NCBIGene:93587", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRMT10A", "equivalent_identifiers": ["NCBIGene:93587", "ENSEMBL:ENSG00000145331", "HGNC:28403", "OMIM:616013", "UMLS:C1428703", "UniProtKB:Q8TBZ6", "PR:Q8TBZ6", "ENSEMBL:ENSP00000273962", "ENSEMBL:ENSP00000273962.3", "ENSEMBL:ENSP00000378342", "ENSEMBL:ENSP00000378342.2", "ENSEMBL:ENSP00000378343", "ENSEMBL:ENSP00000378343.3", "UMLS:C4042629", "MESH:C000595175", "UniProtKB:V9HVY8"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2G9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2G9-1", "PR:Q9P2G9-1", "ENSEMBL:ENSP00000273963", "ENSEMBL:ENSP00000273963.5", "ENSEMBL:ENSP00000424131", "ENSEMBL:ENSP00000424131.1"], "information_content": 100.0}
{"id": "MONDO:0007733", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 3", "equivalent_identifiers": ["MONDO:0007733", "DOID:0110875", "OMIM:142945", "UMLS:C1840529", "MESH:C564181", "medgen:327125"], "information_content": 95.4}
{"id": "MONDO:0002535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "verrucous papilloma", "equivalent_identifiers": ["MONDO:0002535", "DOID:3177", "UMLS:C0334243", "NCIT:C4101", "SNOMEDCT:48218007", "medgen:83114"], "information_content": 100.0}
{"id": "NCBIGene:493856", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CISD2", "equivalent_identifiers": ["NCBIGene:493856", "ENSEMBL:ENSG00000145354", "HGNC:24212", "OMIM:611507", "UMLS:C1969088", "UniProtKB:Q8N5K1", "PR:Q8N5K1", "ENSEMBL:ENSP00000273986", "ENSEMBL:ENSP00000273986.4", "UMLS:C2001281", "MESH:C523851"], "information_content": 92.8}
{"id": "UniProtKB:Q8NB90-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATPase family gene 2 protein homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NB90-1", "PR:Q8NB90-1", "ENSEMBL:ENSP00000274008", "ENSEMBL:ENSP00000274008.3"], "information_content": 100.0}
{"id": "MONDO:0006826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kwashiorkor", "equivalent_identifiers": ["MONDO:0006826", "DOID:13579", "EFO:1001009", "UMLS:C0022806", "MESH:D007732", "MEDDRA:10023504", "NCIT:C197922", "SNOMEDCT:58262005", "medgen:7233", "icd11.foundation:1656486805", "ICD10:E40", "ICD9:260"], "information_content": 100.0}
{"id": "MONDO:0006848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "marasmus", "equivalent_identifiers": ["MONDO:0006848", "DOID:12328", "EFO:1001033", "UMLS:C0086588", "UMLS:C0311276", "MEDDRA:10026820", "MEDDRA:10029859", "NCIT:C195501", "SNOMEDCT:29740003", "medgen:39251", "ICD10:E41", "ICD9:261"], "information_content": 95.4}
{"id": "NCBIGene:2169", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FABP2", "equivalent_identifiers": ["NCBIGene:2169", "ENSEMBL:ENSG00000145384", "HGNC:3556", "OMIM:134640", "UMLS:C1333525", "UniProtKB:P12104", "PR:P12104", "ENSEMBL:ENSP00000274024", "ENSEMBL:ENSP00000274024.3", "UMLS:C1173118", "MESH:C493404"], "information_content": 87.2}
{"id": "NCBIGene:80854", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SETD7", "equivalent_identifiers": ["NCBIGene:80854", "ENSEMBL:ENSG00000145391", "HGNC:30412", "OMIM:606594", "UMLS:C1822691", "UniProtKB:B5MCZ8", "ENSEMBL:ENSP00000385913", "ENSEMBL:ENSP00000385913.3", "UniProtKB:D6RJA0", "ENSEMBL:ENSP00000427300", "ENSEMBL:ENSP00000427300.1", "UniProtKB:Q8WTS6", "PR:Q8WTS6", "ENSEMBL:ENSP00000274031", "ENSEMBL:ENSP00000274031.3", "UMLS:C1172128", "MESH:C540312"], "information_content": 89.4}
{"id": "NCBIGene:6423", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SFRP2", "equivalent_identifiers": ["NCBIGene:6423", "ENSEMBL:ENSG00000145423", "HGNC:10777", "OMIM:604157", "UMLS:C1419987", "UniProtKB:A0A140VJU3", "UniProtKB:B3KSM5", "UniProtKB:Q96HF1", "PR:Q96HF1", "ENSEMBL:ENSP00000274063", "ENSEMBL:ENSP00000274063.4", "UMLS:C1431104", "MESH:C109618"], "information_content": 90.9}
{"id": "UniProtKB:O75311-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycine receptor subunit alpha-3 isoform Alpha-3L (human)", "equivalent_identifiers": ["UniProtKB:O75311-1", "PR:O75311-1", "ENSEMBL:ENSP00000274093", "ENSEMBL:ENSP00000274093.3"], "information_content": 100.0}
{"id": "NCBIGene:4726", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFS6", "equivalent_identifiers": ["NCBIGene:4726", "ENSEMBL:ENSG00000145494", "HGNC:7713", "OMIM:603848", "UMLS:C1417649", "UniProtKB:O75380", "PR:O75380", "ENSEMBL:ENSP00000274137", "ENSEMBL:ENSP00000274137.6", "UMLS:C1529812", "MESH:C493878", "UniProtKB:Q6IBC4"], "information_content": 89.4}
{"id": "UniProtKB:O60337-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase MARCHF6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60337-4", "PR:O60337-4", "ENSEMBL:ENSP00000274140", "ENSEMBL:ENSP00000274140.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TE57-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "a disintegrin and metalloproteinase with thrombospondin motifs 16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TE57-1", "PR:Q8TE57-1", "ENSEMBL:ENSP00000274181", "ENSEMBL:ENSP00000274181.7"], "information_content": 100.0}
{"id": "MONDO:0012139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular dystrophy, retinal, 3", "equivalent_identifiers": ["MONDO:0012139", "DOID:0070440", "OMIM:608850", "UMLS:C3888009", "medgen:854716"], "information_content": 100.0}
{"id": "NCBIGene:6715", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRD5A1", "equivalent_identifiers": ["NCBIGene:6715", "ENSEMBL:ENSG00000145545", "HGNC:11284", "OMIM:184753", "UMLS:C1420395", "UniProtKB:B7Z4D8", "UMLS:C2933071", "MESH:C548467", "UniProtKB:P18405", "PR:P18405", "ENSEMBL:ENSP00000274192", "ENSEMBL:ENSP00000274192.5", "UMLS:C3538878"], "information_content": 100.0}
{"id": "NCBIGene:54491", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTULINL", "equivalent_identifiers": ["NCBIGene:54491", "ENSEMBL:ENSG00000145569", "HGNC:25629", "UMLS:C1825232", "UniProtKB:Q9NUU6", "PR:Q9NUU6", "ENSEMBL:ENSP00000274217", "ENSEMBL:ENSP00000274217.3"], "information_content": 100.0}
{"id": "NCBIGene:6167", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL37", "equivalent_identifiers": ["NCBIGene:6167", "ENSEMBL:ENSG00000145592", "HGNC:10347", "OMIM:604181", "UMLS:C1419670", "UniProtKB:P61927", "PR:P61927", "ENSEMBL:ENSP00000274242", "ENSEMBL:ENSP00000274242.5", "UMLS:C1452954", "MESH:C488984"], "information_content": 92.8}
{"id": "UniProtKB:Q13309-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "S-phase kinase-associated protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13309-1", "PR:Q13309-1", "ENSEMBL:ENSP00000274255", "ENSEMBL:ENSP00000274255.6"], "information_content": 100.0}
{"id": "UniProtKB:Q99650-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oncostatin-M-specific receptor subunit beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99650-1", "PR:Q99650-1", "ENSEMBL:ENSP00000274276", "ENSEMBL:ENSP00000274276.3"], "information_content": 100.0}
{"id": "MONDO:0011786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atopic rhinitis", "equivalent_identifiers": ["MONDO:0011786", "DOID:4481", "EFO:0005854", "UMLS:C0002103", "UMLS:C0847614", "UMLS:C2607914", "MESH:D065631", "MEDDRA:10001723", "MEDDRA:10003644", "MEDDRA:10039085", "MEDDRA:10039086", "MEDDRA:10039087", "MEDDRA:10076646", "MEDDRA:10083317", "NCIT:C34987", "NCIT:C79532", "SNOMEDCT:61582004", "medgen:382012", "icd11.foundation:1711769234", "HP:0003193"], "information_content": 89.4}
{"id": "UniProtKB:Q6NUS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 3A1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NUS8-1", "PR:Q6NUS8-1", "ENSEMBL:ENSP00000274278", "ENSEMBL:ENSP00000274278.3"], "information_content": 100.0}
{"id": "NCBIGene:10769", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLK2", "equivalent_identifiers": ["NCBIGene:10769", "ENSEMBL:ENSG00000145632", "HGNC:19699", "OMIM:607023", "UMLS:C1426344", "UniProtKB:A0A087WUH9", "ENSEMBL:ENSP00000478685", "ENSEMBL:ENSP00000478685.1", "UniProtKB:Q9NYY3", "PR:Q9NYY3", "ENSEMBL:ENSP00000274289", "ENSEMBL:ENSP00000274289.3", "UMLS:C1565490", "MESH:C496126"], "information_content": 95.4}
{"id": "UniProtKB:P12544-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000274306", "equivalent_identifiers": ["UniProtKB:P12544-1", "ENSEMBL:ENSP00000274306", "ENSEMBL:ENSP00000274306.6"]}
{"id": "NCBIGene:1404", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HAPLN1", "equivalent_identifiers": ["NCBIGene:1404", "ENSEMBL:ENSG00000145681", "HGNC:2380", "OMIM:115435", "UMLS:C1413721", "UniProtKB:P10915", "PR:P10915", "ENSEMBL:ENSP00000274341", "ENSEMBL:ENSP00000274341.4", "UMLS:C1453583"], "information_content": 95.4}
{"id": "NCBIGene:635", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BHMT", "equivalent_identifiers": ["NCBIGene:635", "ENSEMBL:ENSG00000145692", "HGNC:1047", "OMIM:602888", "UMLS:C1412794", "UniProtKB:Q93088", "PR:Q93088", "ENSEMBL:ENSP00000274353", "ENSEMBL:ENSP00000274353.5", "UMLS:C1530585", "MESH:C494548", "UniProtKB:V9HWA4"], "information_content": 95.4}
{"id": "NCBIGene:256006", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD31", "equivalent_identifiers": ["NCBIGene:256006", "ENSEMBL:ENSG00000145700", "HGNC:26853", "OMIM:618423", "UMLS:C1538289", "UniProtKB:D6RJB7", "ENSEMBL:ENSP00000427262", "ENSEMBL:ENSP00000427262.2", "UniProtKB:Q8N7Z5", "PR:Q8N7Z5", "ENSEMBL:ENSP00000274361", "ENSEMBL:ENSP00000274361.3", "UMLS:C4507743", "MESH:C000620754"], "information_content": 95.4}
{"id": "UniProtKB:Q13576-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras GTPase-activating-like protein IQGAP2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13576-1", "PR:Q13576-1", "ENSEMBL:ENSP00000274364", "ENSEMBL:ENSP00000274364.6"], "information_content": 100.0}
{"id": "NCBIGene:1393", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRHBP", "equivalent_identifiers": ["NCBIGene:1393", "ENSEMBL:ENSG00000145708", "HGNC:2356", "OMIM:122559", "UMLS:C1413708", "UniProtKB:P24387", "PR:P24387", "ENSEMBL:ENSP00000274368", "ENSEMBL:ENSP00000274368.4", "UMLS:C1454875"], "information_content": 89.4}
{"id": "UniProtKB:P20936-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras GTPase-activating protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20936-1", "PR:P20936-1", "ENSEMBL:ENSP00000274376", "ENSEMBL:ENSP00000274376.6"], "information_content": 100.0}
{"id": "NCBIGene:167410", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIX1", "equivalent_identifiers": ["NCBIGene:167410", "ENSEMBL:ENSG00000145721", "HGNC:18581", "OMIM:610466", "UMLS:C1537580", "UniProtKB:Q8N485", "PR:Q8N485", "ENSEMBL:ENSP00000274382", "ENSEMBL:ENSP00000274382.4"], "information_content": 95.4}
{"id": "MONDO:0009610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria type 1", "equivalent_identifiers": ["MONDO:0009610", "DOID:0110002", "OMIM:250950", "orphanet:67046", "UMLS:C0342727", "MESH:C562801", "NCIT:C98683", "SNOMEDCT:237951008", "medgen:90994", "icd11.foundation:899935975"], "information_content": 95.4}
{"id": "UniProtKB:Q13888-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription factor IIH subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13888-1", "PR:Q13888-1", "ENSEMBL:ENSP00000274400", "ENSEMBL:ENSP00000274400.5", "ENSEMBL:ENSP00000328901", "ENSEMBL:ENSP00000328901.6", "ENSEMBL:ENSP00000477954", "ENSEMBL:ENSP00000477954.1", "ENSEMBL:ENSP00000479262", "ENSEMBL:ENSP00000479262.1", "ENSEMBL:ENSP00000480548", "ENSEMBL:ENSP00000480548.1", "ENSEMBL:ENSP00000486014", "ENSEMBL:ENSP00000486014.1"], "information_content": 100.0}
{"id": "MONDO:0012420", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 49", "equivalent_identifiers": ["MONDO:0012420", "DOID:0110506", "OMIM:610153", "UMLS:C1857811", "MESH:C565717", "NCIT:C129024", "medgen:346670"], "information_content": 100.0}
{"id": "UniProtKB:Q9BWV2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis-associated protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWV2-1", "PR:Q9BWV2-1", "ENSEMBL:ENSP00000274432", "ENSEMBL:ENSP00000274432.8", "ENSEMBL:ENSP00000325491", "ENSEMBL:ENSP00000325491.8"], "information_content": 100.0}
{"id": "NCBIGene:56929", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FEM1C", "equivalent_identifiers": ["NCBIGene:56929", "ENSEMBL:ENSG00000145780", "HGNC:16933", "OMIM:608767", "UMLS:C1424646", "UniProtKB:Q96JP0", "PR:Q96JP0", "ENSEMBL:ENSP00000274457", "ENSEMBL:ENSP00000274457.3", "UMLS:C1313268", "UMLS:C5203011", "MESH:C478973"], "information_content": 89.4}
{"id": "NCBIGene:51397", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COMMD10", "equivalent_identifiers": ["NCBIGene:51397", "ENSEMBL:ENSG00000145781", "HGNC:30201", "OMIM:616704", "UMLS:C1428942", "UniProtKB:D6RJ90", "ENSEMBL:ENSP00000427319", "ENSEMBL:ENSP00000427319.1", "ENSEMBL:ENSP00000488332", "ENSEMBL:ENSP00000488332.1", "UMLS:C4549734", "MESH:C000624160", "UniProtKB:Q9Y6G5", "PR:Q9Y6G5", "ENSEMBL:ENSP00000274458", "ENSEMBL:ENSP00000274458.4"], "information_content": 89.4}
{"id": "ENSEMBL:ENSP00000274487", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000274487", "equivalent_identifiers": ["ENSEMBL:ENSP00000274487"]}
{"id": "MONDO:0005514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nanophthalmia", "equivalent_identifiers": ["MONDO:0005514", "DOID:0080634", "OMIM.PS:600165", "orphanet:35612", "UMLS:C4274282", "SNOMEDCT:716775009", "medgen:901455"], "information_content": 89.4}
{"id": "UniProtKB:Q969M3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein YIPF5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969M3-1", "PR:Q969M3-1", "ENSEMBL:ENSP00000274496", "ENSEMBL:ENSP00000274496.5", "ENSEMBL:ENSP00000397704", "ENSEMBL:ENSP00000397704.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 26 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNA1-1", "PR:Q9UNA1-1", "ENSEMBL:ENSP00000274498", "ENSEMBL:ENSP00000274498.4"], "information_content": 100.0}
{"id": "NCBIGene:3950", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LECT2", "equivalent_identifiers": ["NCBIGene:3950", "ENSEMBL:ENSG00000145826", "HGNC:6550", "OMIM:602882", "UMLS:C1416824", "UniProtKB:O14960", "PR:O14960", "ENSEMBL:ENSP00000274507", "ENSEMBL:ENSP00000274507.1", "UMLS:C1433427", "MESH:C103468"], "information_content": 100.0}
{"id": "NCBIGene:3578", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL9", "equivalent_identifiers": ["NCBIGene:3578", "ENSEMBL:ENSG00000145839", "HGNC:6029", "OMIM:146931", "UMLS:C1334127", "UniProtKB:P15248", "PR:P15248", "ENSEMBL:ENSP00000274520", "ENSEMBL:ENSP00000274520.1", "UMLS:C1699801", "MESH:C508607"], "information_content": 95.4}
{"id": "UniProtKB:Q96H15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell immunoglobulin and mucin domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96H15-1", "PR:Q96H15-1", "ENSEMBL:ENSP00000274532", "ENSEMBL:ENSP00000274532.2"], "information_content": 100.0}
{"id": "NCBIGene:2559", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABRA6", "equivalent_identifiers": ["NCBIGene:2559", "ENSEMBL:ENSG00000145863", "HGNC:4080", "OMIM:137143", "UMLS:C1414913", "UniProtKB:Q16445", "PR:Q16445", "ENSEMBL:ENSP00000274545", "ENSEMBL:ENSP00000274545.5", "UMLS:C1741671", "MESH:C546171"], "information_content": 92.8}
{"id": "UniProtKB:P47870-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-aminobutyric acid receptor subunit beta-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P47870-2", "PR:P47870-2", "ENSEMBL:ENSP00000274547", "ENSEMBL:ENSP00000274547.2", "ENSEMBL:ENSP00000377531", "ENSEMBL:ENSP00000377531.1"], "information_content": 100.0}
{"id": "MONDO:0010779", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial non-syndromic sensorineural hearing loss", "equivalent_identifiers": ["MONDO:0010779", "DOID:0111751", "OMIM:500008", "orphanet:90641", "UMLS:C3151897", "medgen:463247"], "information_content": 95.4}
{"id": "MONDO:0004466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronitis", "equivalent_identifiers": ["MONDO:0004466", "DOID:8117", "UMLS:C0027881", "MEDDRA:10029324", "NCIT:C34847", "medgen:45064"], "information_content": 100.0}
{"id": "NCBIGene:84651", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPINK7", "equivalent_identifiers": ["NCBIGene:84651", "ENSEMBL:ENSG00000145879", "HGNC:24643", "OMIM:617288", "UMLS:C1823110", "UniProtKB:P58062", "PR:P58062", "ENSEMBL:ENSP00000274565", "ENSEMBL:ENSP00000274565.4", "UMLS:C1258118", "MESH:C473799"], "information_content": 100.0}
{"id": "NCBIGene:23138", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "N4BP3", "equivalent_identifiers": ["NCBIGene:23138", "ENSEMBL:ENSG00000145911", "HGNC:29852", "OMIM:619140", "UMLS:C3148457", "UniProtKB:O15049", "PR:O15049", "ENSEMBL:ENSP00000274605", "ENSEMBL:ENSP00000274605.4", "UMLS:C5196798", "MESH:C000630135"], "information_content": 92.8}
{"id": "MONDO:0012812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 4", "equivalent_identifiers": ["MONDO:0012812", "DOID:0080436", "OMIM:612164", "orphanet:599373", "UMLS:C2677326", "MESH:C567404", "NCIT:C162472", "SNOMEDCT:768666006", "medgen:436917"], "information_content": 100.0}
{"id": "NCBIGene:55651", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NHP2", "equivalent_identifiers": ["NCBIGene:55651", "ENSEMBL:ENSG00000145912", "HGNC:14377", "OMIM:606470", "UMLS:C1422601", "UniProtKB:J3QSY4", "ENSEMBL:ENSP00000366276", "ENSEMBL:ENSP00000366276.2", "UniProtKB:Q9NX24", "PR:Q9NX24", "ENSEMBL:ENSP00000274606", "ENSEMBL:ENSP00000274606.4", "UMLS:C0962524", "MESH:C416929"], "information_content": 92.8}
{"id": "NCBIGene:8817", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGF18", "equivalent_identifiers": ["NCBIGene:8817", "ENSEMBL:ENSG00000156427", "HGNC:3674", "OMIM:603726", "UMLS:C1414602", "UniProtKB:O76093", "PR:O76093", "ENSEMBL:ENSP00000274625", "ENSEMBL:ENSP00000274625.5", "UMLS:C1432638"], "information_content": 92.8}
{"id": "UniProtKB:Q16558-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-activated potassium channel subunit beta-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16558-1", "PR:Q16558-1", "ENSEMBL:ENSP00000274629", "ENSEMBL:ENSP00000274629.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86YV6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin light chain kinase family member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YV6-1", "PR:Q86YV6-1", "ENSEMBL:ENSP00000274643", "ENSEMBL:ENSP00000274643.7"], "information_content": 100.0}
{"id": "UniProtKB:Q5VV42-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "threonylcarbamoyladenosine tRNA methylthiotransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VV42-1", "PR:Q5VV42-1", "ENSEMBL:ENSP00000274695", "ENSEMBL:ENSP00000274695.4", "ENSEMBL:ENSP00000367873", "ENSEMBL:ENSP00000367873.1"], "information_content": 100.0}
{"id": "NCBIGene:84249", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSD2", "equivalent_identifiers": ["NCBIGene:84249", "ENSEMBL:ENSG00000146005", "HGNC:19092", "OMIM:620656", "UMLS:C1538735", "UniProtKB:Q9BQI7", "PR:Q9BQI7", "ENSEMBL:ENSP00000274710", "ENSEMBL:ENSP00000274710.3"], "information_content": 100.0}
{"id": "MONDO:0044737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction", "equivalent_identifiers": ["MONDO:0044737", "DOID:0112349", "orphanet:506353", "UMLS:C5568576", "SNOMEDCT:1186734006", "medgen:1799999"], "information_content": 100.0}
{"id": "MONDO:0009376", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carbamoyl phosphate synthetase I deficiency disease", "equivalent_identifiers": ["MONDO:0009376", "DOID:9280", "OMIM:237300", "orphanet:147", "EFO:0007193", "UMLS:C0751753", "UMLS:C4082171", "MESH:D020165", "MEDDRA:10058297", "MEDDRA:10071106", "NCIT:C84612", "SNOMEDCT:62522004", "SNOMEDCT:765329008", "medgen:907954", "icd11.foundation:327894003"], "information_content": 100.0}
{"id": "NCBIGene:26045", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRTM2", "equivalent_identifiers": ["NCBIGene:26045", "ENSEMBL:ENSG00000146006", "HGNC:19409", "OMIM:610868", "UMLS:C1537618", "UniProtKB:O43300", "PR:O43300", "ENSEMBL:ENSP00000274711", "ENSEMBL:ENSP00000274711.5", "UMLS:C3254737", "MESH:C561320"], "information_content": 92.8}
{"id": "NCBIGene:153527", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZMAT2", "equivalent_identifiers": ["NCBIGene:153527", "ENSEMBL:ENSG00000146007", "HGNC:26433", "OMIM:619930", "UMLS:C1538176", "UniProtKB:Q96NC0", "PR:Q96NC0", "ENSEMBL:ENSP00000274712", "ENSEMBL:ENSP00000274712.2"], "information_content": 92.8}
{"id": "UniProtKB:O60609-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GDNF family receptor alpha-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60609-1", "PR:O60609-1", "ENSEMBL:ENSP00000274721", "ENSEMBL:ENSP00000274721.3"], "information_content": 100.0}
{"id": "NCBIGene:255626", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BC1", "equivalent_identifiers": ["NCBIGene:255626", "ENSEMBL:ENSG00000146047", "HGNC:18730", "OMIM:609904", "UMLS:C5202789", "UniProtKB:Q96A08", "PR:Q96A08", "ENSEMBL:ENSP00000274764", "ENSEMBL:ENSP00000274764.3", "UMLS:C5202684"], "information_content": 84.8}
{"id": "UniProtKB:Q9C029-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C029-2", "PR:Q9C029-2", "ENSEMBL:ENSP00000274773", "ENSEMBL:ENSP00000274773.7"], "information_content": 100.0}
{"id": "NCBIGene:192286", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HIGD2A", "equivalent_identifiers": ["NCBIGene:192286", "ENSEMBL:ENSG00000146066", "HGNC:28311", "OMIM:620788", "UMLS:C1825472", "UniProtKB:Q9BW72", "PR:Q9BW72", "ENSEMBL:ENSP00000274787", "ENSEMBL:ENSP00000274787.2", "UMLS:C5690399", "MESH:C000722189"], "information_content": 92.8}
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{"id": "UniProtKB:Q8IX30-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal peptide, CUB and EGF-like domain-containing protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IX30-1", "PR:Q8IX30-1", "ENSEMBL:ENSP00000274938", "ENSEMBL:ENSP00000274938.7"], "information_content": 100.0}
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{"id": "NCBIGene:51302", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP39A1", "equivalent_identifiers": ["NCBIGene:51302", "ENSEMBL:ENSG00000146233", "HGNC:17449", "OMIM:605994", "UMLS:C1424970", "UniProtKB:A0A087WTD2", "ENSEMBL:ENSP00000477769", "ENSEMBL:ENSP00000477769.1", "UniProtKB:B7Z786", "UniProtKB:Q9NYL5", "PR:Q9NYL5", "ENSEMBL:ENSP00000275016", "ENSEMBL:ENSP00000275016.2", "UMLS:C1432901", "MESH:C499573"], "information_content": 100.0}
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{"id": "NCBIGene:253714", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMS22L", "equivalent_identifiers": ["NCBIGene:253714", "ENSEMBL:ENSG00000146263", "HGNC:21475", "OMIM:615614", "UMLS:C1427566", "UniProtKB:E2QRD4", "ENSEMBL:ENSP00000358254", "ENSEMBL:ENSP00000358254.2", "UniProtKB:Q6ZRQ5", "PR:Q6ZRQ5", "ENSEMBL:ENSP00000275053", "ENSEMBL:ENSP00000275053.4", "ENSEMBL:ENSP00000508046", "ENSEMBL:ENSP00000508046.1", "UMLS:C2975688", "MESH:C554517"], "information_content": 95.4}
{"id": "NCBIGene:319100", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAAR6", "equivalent_identifiers": ["NCBIGene:319100", "ENSEMBL:ENSG00000146383", "HGNC:20978", "OMIM:608923", "UMLS:C1539913", "UniProtKB:Q96RI8", "PR:Q96RI8", "ENSEMBL:ENSP00000275198", "ENSEMBL:ENSP00000275198.1", "UMLS:C1529992", "MESH:C493988"], "information_content": 95.4}
{"id": "MONDO:0004271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pregnancy adenoma", "equivalent_identifiers": ["MONDO:0004271", "DOID:7539", "UMLS:C1266023", "NCIT:C9473", "SNOMEDCT:128651002", "medgen:226830"], "information_content": 100.0}
{"id": "NCBIGene:83551", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAAR8", "equivalent_identifiers": ["NCBIGene:83551", "ENSEMBL:ENSG00000146385", "HGNC:14964", "OMIM:606927", "UMLS:C1539915", "UniProtKB:Q969N4", "PR:Q969N4", "ENSEMBL:ENSP00000275200", "ENSEMBL:ENSP00000275200.1", "UMLS:C4041848"], "information_content": 100.0}
{"id": "DOID:0050769", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "N syndrome", "equivalent_identifiers": ["DOID:0050769", "OMIM:310465", "UMLS:C2936859", "MESH:C536108", "SNOMEDCT:723410002"]}
{"id": "NCBIGene:134864", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAAR1", "equivalent_identifiers": ["NCBIGene:134864", "ENSEMBL:ENSG00000146399", "HGNC:17734", "OMIM:609333", "UMLS:C1539908", "UniProtKB:Q96RJ0", "PR:Q96RJ0", "ENSEMBL:ENSP00000275216", "ENSEMBL:ENSP00000275216.1", "UMLS:C1612133"], "information_content": 95.4}
{"id": "NCBIGene:116843", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC18B1", "equivalent_identifiers": ["NCBIGene:116843", "ENSEMBL:ENSG00000146409", "HGNC:21573", "OMIM:613361", "UMLS:C1427620", "UniProtKB:A0A3B3IT67", "ENSEMBL:ENSP00000497768", "ENSEMBL:ENSP00000497768.1", "UniProtKB:Q6NT16", "PR:Q6NT16", "ENSEMBL:ENSP00000275227", "ENSEMBL:ENSP00000275227.4"], "information_content": 100.0}
{"id": "MONDO:0014725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome", "equivalent_identifiers": ["MONDO:0014725", "DOID:0070537", "OMIM:616657", "orphanet:447997", "UMLS:C4225254", "SNOMEDCT:1237418002", "medgen:900192"], "information_content": 100.0}
{"id": "MONDO:0010664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Snyder type", "equivalent_identifiers": ["MONDO:0010664", "DOID:0060802", "OMIM:309583", "orphanet:3063", "UMLS:C0796160", "MESH:C536678", "SNOMEDCT:702416008", "medgen:162918"], "information_content": 100.0}
{"id": "NCBIGene:154091", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC2A12", "equivalent_identifiers": ["NCBIGene:154091", "ENSEMBL:ENSG00000146411", "HGNC:18067", "OMIM:610372", "UMLS:C1425278", "UniProtKB:Q8TD20", "PR:Q8TD20", "ENSEMBL:ENSP00000275230", "ENSEMBL:ENSP00000275230.5", "UMLS:C1310424", "MESH:C449579"], "information_content": 100.0}
{"id": "UniProtKB:Q149N8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase SHPRH isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q149N8-1", "PR:Q149N8-1", "ENSEMBL:ENSP00000275233", "ENSEMBL:ENSP00000275233.7", "ENSEMBL:ENSP00000356475", "ENSEMBL:ENSP00000356475.2"], "information_content": 100.0}
{"id": "NCBIGene:6581", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC22A3", "equivalent_identifiers": ["NCBIGene:6581", "ENSEMBL:ENSG00000146477", "HGNC:10967", "OMIM:604842", "UMLS:C1420138", "UniProtKB:O75751", "PR:O75751", "ENSEMBL:ENSP00000275300", "ENSEMBL:ENSP00000275300.2", "UMLS:C1314663"], "information_content": 100.0}
{"id": "UniProtKB:Q03113-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein subunit alpha-12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q03113-1", "PR:Q03113-1", "ENSEMBL:ENSP00000275364", "ENSEMBL:ENSP00000275364.3", "ENSEMBL:ENSP00000520443", "ENSEMBL:ENSP00000520443.1"], "information_content": 100.0}
{"id": "MONDO:0005659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrophic rhinitis", "equivalent_identifiers": ["MONDO:0005659", "DOID:4731", "EFO:0007159", "UMLS:C0030105", "UMLS:C0035459", "MESH:D012222", "MEDDRA:10003689", "MEDDRA:10033335", "MEDDRA:10039088", "SNOMEDCT:28111002", "SNOMEDCT:69646003", "medgen:48450"], "information_content": 100.0}
{"id": "UniProtKB:O75223-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-glutamylcyclotransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75223-1", "PR:O75223-1", "ENSEMBL:ENSP00000275428", "ENSEMBL:ENSP00000275428.4"], "information_content": 100.0}
{"id": "NCBIGene:222894", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FERD3L", "equivalent_identifiers": ["NCBIGene:222894", "ENSEMBL:ENSG00000146618", "HGNC:16660", "OMIM:617578", "UMLS:C1424474", "UniProtKB:Q96RJ6", "PR:Q96RJ6", "ENSEMBL:ENSP00000275461", "ENSEMBL:ENSP00000275461.3", "UMLS:C1433081", "MESH:C486163"], "information_content": 100.0}
{"id": "UniProtKB:P00533-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epidermal growth factor receptor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P00533-1", "PR:P00533-1", "ENSEMBL:ENSP00000275493", "ENSEMBL:ENSP00000275493.2"], "information_content": 92.8}
{"id": "NCBIGene:113130", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDCA5", "equivalent_identifiers": ["NCBIGene:113130", "ENSEMBL:ENSG00000146670", "HGNC:14626", "OMIM:609374", "UMLS:C1422798", "UniProtKB:Q96FF9", "PR:Q96FF9", "ENSEMBL:ENSP00000275517", "ENSEMBL:ENSP00000275517.3", "UMLS:C1569375", "MESH:C500695"], "information_content": 88.2}
{"id": "NCBIGene:3484", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGFBP1", "equivalent_identifiers": ["NCBIGene:3484", "ENSEMBL:ENSG00000146678", "HGNC:5469", "OMIM:146730", "UMLS:C1334092", "UniProtKB:P08833", "PR:P08833", "ENSEMBL:ENSP00000275525", "ENSEMBL:ENSP00000275525.3", "UMLS:C0071189", "MESH:C032231"], "information_content": 89.4}
{"id": "UniProtKB:Q8WTU2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "scavenger receptor cysteine-rich domain-containing group B protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WTU2-1", "PR:Q8WTU2-1", "ENSEMBL:ENSP00000275560", "ENSEMBL:ENSP00000275560.3"], "information_content": 100.0}
{"id": "UniProtKB:P40227-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-complex protein 1 subunit zeta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P40227-1", "PR:P40227-1", "ENSEMBL:ENSP00000275603", "ENSEMBL:ENSP00000275603.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXP2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 12 member 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXP2-1", "PR:Q9BXP2-1", "ENSEMBL:ENSP00000275730", "ENSEMBL:ENSP00000275730.4"], "information_content": 100.0}
{"id": "NCBIGene:64599", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GIGYF1", "equivalent_identifiers": ["NCBIGene:64599", "ENSEMBL:ENSG00000146830", "HGNC:9126", "OMIM:612064", "UMLS:C2239491", "UniProtKB:O75420", "PR:O75420", "ENSEMBL:ENSP00000275732", "ENSEMBL:ENSP00000275732.4", "ENSEMBL:ENSP00000494292", "ENSEMBL:ENSP00000494292.1", "ENSEMBL:ENSP00000503354", "ENSEMBL:ENSP00000503354.1"], "information_content": 95.4}
{"id": "NCBIGene:346673", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STRA8", "equivalent_identifiers": ["NCBIGene:346673", "ENSEMBL:ENSG00000146857", "HGNC:30653", "OMIM:609987", "UMLS:C1823137", "UniProtKB:A0A590UJF1", "ENSEMBL:ENSP00000499386", "ENSEMBL:ENSP00000499386.1", "UMLS:C1436114", "MESH:C484447", "UniProtKB:A0A590UK75", "ENSEMBL:ENSP00000499721", "ENSEMBL:ENSP00000499721.1", "UniProtKB:Q7Z7C7", "PR:Q7Z7C7", "ENSEMBL:ENSP00000275764", "ENSEMBL:ENSP00000275764.3", "UMLS:C3641880"], "information_content": 100.0}
{"id": "MONDO:0008019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mullerian aplasia and hyperandrogenism", "equivalent_identifiers": ["MONDO:0008019", "DOID:0111526", "OMIM:158330", "orphanet:247768", "UMLS:C2675014", "MESH:C567186", "MEDDRA:10088125", "NCIT:C120376", "medgen:390686"], "information_content": 100.0}
{"id": "UniProtKB:P21709-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin type-A receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P21709-1", "PR:P21709-1", "ENSEMBL:ENSP00000275815", "ENSEMBL:ENSP00000275815.3", "ENSEMBL:ENSP00000494931", "ENSEMBL:ENSP00000494931.1"], "information_content": 100.0}
{"id": "NCBIGene:64434", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOM1", "equivalent_identifiers": ["NCBIGene:64434", "ENSEMBL:ENSG00000146909", "HGNC:13244", "OMIM:611269", "UMLS:C1538476", "UniProtKB:Q5C9Z4", "PR:Q5C9Z4", "ENSEMBL:ENSP00000275820", "ENSEMBL:ENSP00000275820.3", "UMLS:C1569431", "MESH:C500737"], "information_content": 95.4}
{"id": "NCBIGene:83604", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM47", "equivalent_identifiers": ["NCBIGene:83604", "ENSEMBL:ENSG00000147027", "HGNC:18515", "OMIM:300698", "UMLS:C1540021", "UniProtKB:Q9BQJ4", "PR:Q9BQJ4", "ENSEMBL:ENSP00000275954", "ENSEMBL:ENSP00000275954.3", "UMLS:C1504895", "MESH:C491469"], "information_content": 92.8}
{"id": "MONDO:0013537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 29", "equivalent_identifiers": ["MONDO:0013537", "DOID:0110487", "OMIM:614035", "UMLS:C3279660", "medgen:481290"], "information_content": 100.0}
{"id": "UniProtKB:Q00536-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 16 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q00536-2", "PR:Q00536-2", "ENSEMBL:ENSP00000276052", "ENSEMBL:ENSP00000276052.6"], "information_content": 100.0}
{"id": "NCBIGene:56548", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHST7", "equivalent_identifiers": ["NCBIGene:56548", "ENSEMBL:ENSG00000147119", "HGNC:13817", "OMIM:300375", "UMLS:C1422212", "UniProtKB:Q9NS84", "PR:Q9NS84", "ENSEMBL:ENSP00000276055", "ENSEMBL:ENSP00000276055.3", "UMLS:C2000671", "MESH:C000728088"], "information_content": 100.0}
{"id": "MONDO:0010709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset parkinsonism-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0010709", "DOID:0111781", "OMIM:311510", "orphanet:2379", "UMLS:C0796195", "MESH:C537179", "NCIT:C184991", "SNOMEDCT:716107009", "medgen:208674", "icd11.foundation:937544163"], "information_content": 100.0}
{"id": "UniProtKB:A0A8J8YU24", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A8J8YU24_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial (trembl)", "equivalent_identifiers": ["UniProtKB:A0A8J8YU24", "ENSEMBL:ENSP00000276062", "ENSEMBL:ENSP00000276062.9"]}
{"id": "UniProtKB:Q15233-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "non-POU domain-containing octamer-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15233-1", "PR:Q15233-1", "ENSEMBL:ENSP00000276079", "ENSEMBL:ENSP00000276079.8", "ENSEMBL:ENSP00000362947", "ENSEMBL:ENSP00000362947.1", "ENSEMBL:ENSP00000406673", "ENSEMBL:ENSP00000406673.2", "ENSEMBL:ENSP00000410299", "ENSEMBL:ENSP00000410299.2", "ENSEMBL:ENSP00000415777", "ENSEMBL:ENSP00000415777.2", "ENSEMBL:ENSP00000503031", "ENSEMBL:ENSP00000503031.1", "ENSEMBL:ENSP00000503233", "ENSEMBL:ENSP00000503233.1", "ENSEMBL:ENSP00000504314", "ENSEMBL:ENSP00000504314.1", "ENSEMBL:ENSP00000504351", "ENSEMBL:ENSP00000504351.1"], "information_content": 100.0}
{"id": "NCBIGene:53336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPXCR1", "equivalent_identifiers": ["NCBIGene:53336", "ENSEMBL:ENSG00000147183", "HGNC:2332", "OMIM:301055", "UMLS:C1413692", "UniProtKB:Q8N123", "PR:Q8N123", "ENSEMBL:ENSP00000276127", "ENSEMBL:ENSP00000276127.4", "ENSEMBL:ENSP00000362203", "ENSEMBL:ENSP00000362203.1", "ENSEMBL:ENSP00000484986", "ENSEMBL:ENSP00000484986.1", "UMLS:C4705116", "MESH:C000626352"], "information_content": 100.0}
{"id": "MONDO:0010576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked mixed hearing loss with perilymphatic gusher", "equivalent_identifiers": ["MONDO:0010576", "DOID:0111737", "OMIM:304400", "UMLS:C1844678", "MESH:C536424", "medgen:336750"], "information_content": 100.0}
{"id": "UniProtKB:Q0D2K3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ripply1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q0D2K3-1", "PR:Q0D2K3-1", "ENSEMBL:ENSP00000276173", "ENSEMBL:ENSP00000276173.4"], "information_content": 100.0}
{"id": "MONDO:0020513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatocytoma", "equivalent_identifiers": ["MONDO:0020513", "DOID:5834", "DOID:7891", "orphanet:99865", "UMLS:C0334517", "MEDDRA:10073118", "NCIT:C39921", "SNOMEDCT:9294008", "medgen:83159"], "information_content": 95.4}
{"id": "NCBIGene:84443", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FRMPD3", "equivalent_identifiers": ["NCBIGene:84443", "ENSEMBL:ENSG00000147234", "HGNC:29382", "OMIM:301005", "UMLS:C1825316", "UniProtKB:A0A804HJA6", "ENSEMBL:ENSP00000507422", "ENSEMBL:ENSP00000507422.1", "UniProtKB:Q5JV73", "PR:Q5JV73", "ENSEMBL:ENSP00000276185", "ENSEMBL:ENSP00000276185.5", "ENSEMBL:ENSP00000507942", "ENSEMBL:ENSP00000507942.1"], "information_content": 100.0}
{"id": "MONDO:0006243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatoid adenocarcinoma", "equivalent_identifiers": ["MONDO:0006243", "DOID:0060534", "EFO:1000293", "UMLS:C1266090", "NCIT:C66950", "SNOMEDCT:128706007", "medgen:220413"], "information_content": 87.2}
{"id": "UniProtKB:P28335-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-hydroxytryptamine receptor 2C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P28335-1", "PR:P28335-1", "ENSEMBL:ENSP00000276198", "ENSEMBL:ENSP00000276198.1", "ENSEMBL:ENSP00000361019", "ENSEMBL:ENSP00000361019.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZI7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of nonsense transcripts 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZI7-1", "PR:Q9BZI7-1", "ENSEMBL:ENSP00000276201", "ENSEMBL:ENSP00000276201.3"], "information_content": 100.0}
{"id": "MONDO:0007983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Schmid metaphyseal chondrodysplasia", "equivalent_identifiers": ["MONDO:0007983", "DOID:0080021", "OMIM:156500", "orphanet:174", "UMLS:C0265289", "MESH:C537352", "SNOMEDCT:29248006", "medgen:78550"], "information_content": 100.0}
{"id": "NCBIGene:139818", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DOCK11", "equivalent_identifiers": ["NCBIGene:139818", "ENSEMBL:ENSG00000147251", "HGNC:23483", "OMIM:300681", "UMLS:C1428097", "UniProtKB:Q5JSL3", "PR:Q5JSL3", "ENSEMBL:ENSP00000276202", "ENSEMBL:ENSP00000276202.7", "UMLS:C5882251", "MESH:C000729327"], "information_content": 90.9}
{"id": "UniProtKB:Q6ZRI8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 36 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZRI8-1", "PR:Q6ZRI8-1", "ENSEMBL:ENSP00000276211", "ENSEMBL:ENSP00000276211.5"], "information_content": 100.0}
{"id": "MONDO:0859597", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cns neuroblastoma with FOXR2 activation", "equivalent_identifiers": ["MONDO:0859597", "DOID:0080906", "UMLS:C5670625", "NCIT:C186547"], "information_content": 92.8}
{"id": "NCBIGene:139760", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR119", "equivalent_identifiers": ["NCBIGene:139760", "ENSEMBL:ENSG00000147262", "HGNC:19060", "OMIM:300513", "UMLS:C1425983", "UniProtKB:Q8TDV5", "PR:Q8TDV5", "ENSEMBL:ENSP00000276218", "ENSEMBL:ENSP00000276218.2", "ENSEMBL:ENSP00000508182", "ENSEMBL:ENSP00000508182.1", "UMLS:C1957130", "MESH:C519854"], "information_content": 95.4}
{"id": "NCBIGene:9258", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MFHAS1", "equivalent_identifiers": ["NCBIGene:9258", "ENSEMBL:ENSG00000147324", "HGNC:16982", "OMIM:605352", "UMLS:C1334503", "UniProtKB:Q9Y4C4", "PR:Q9Y4C4", "ENSEMBL:ENSP00000276282", "ENSEMBL:ENSP00000276282.6", "UMLS:C1308909", "MESH:C117302"], "information_content": 95.4}
{"id": "UniProtKB:Q96QB1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96QB1-2", "PR:Q96QB1-2", "ENSEMBL:ENSP00000276297", "ENSEMBL:ENSP00000276297.4"], "information_content": 100.0}
{"id": "NCBIGene:526", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP6V1B2", "equivalent_identifiers": ["NCBIGene:526", "ENSEMBL:ENSG00000147416", "HGNC:854", "OMIM:606939", "UMLS:C1412674", "UniProtKB:A0A140VK65", "UniProtKB:P21281", "PR:P21281", "ENSEMBL:ENSP00000276390", "ENSEMBL:ENSP00000276390.2", "ENSEMBL:ENSP00000520705", "ENSEMBL:ENSP00000520705.1", "UMLS:C4041877", "MESH:C000599123"], "information_content": 89.4}
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{"id": "MONDO:0008822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, renal dysfunction, and cholestasis 1", "equivalent_identifiers": ["MONDO:0008822", "DOID:0111353", "OMIM:208085", "UMLS:C1859722", "medgen:347219"], "information_content": 100.0}
{"id": "UniProtKB:Q15825-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal acetylcholine receptor subunit alpha-6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15825-1", "PR:Q15825-1", "ENSEMBL:ENSP00000276410", "ENSEMBL:ENSP00000276410.3"], "information_content": 100.0}
{"id": "NCBIGene:2796", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNRH1", "equivalent_identifiers": ["NCBIGene:2796", "ENSEMBL:ENSG00000147437", "HGNC:4419", "OMIM:152760", "UMLS:C1415169", "UniProtKB:P01148", "PR:P01148", "ENSEMBL:ENSP00000276414", "ENSEMBL:ENSP00000276414.4", "ENSEMBL:ENSP00000391280", "ENSEMBL:ENSP00000391280.2", "UMLS:C1521753", "UMLS:C4520794"], "information_content": 95.4}
{"id": "MONDO:0004593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartholin cyst", "equivalent_identifiers": ["MONDO:0004593", "DOID:851", "UMLS:C0004767", "MEDDRA:10004140", "MEDDRA:10011741", "NCIT:C26706", "SNOMEDCT:57044006", "medgen:14032", "ICD10:N75.0", "ICD9:616.2", "HP:0430134"], "information_content": 100.0}
{"id": "NCBIGene:9046", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DOK2", "equivalent_identifiers": ["NCBIGene:9046", "ENSEMBL:ENSG00000147443", "HGNC:2991", "OMIM:604997", "UMLS:C1414130", "UniProtKB:B4DKQ6", "UMLS:C0672084", "MESH:C115089", "UniProtKB:O60496", "PR:O60496", "ENSEMBL:ENSP00000276420", "ENSEMBL:ENSP00000276420.4"], "information_content": 81.3}
{"id": "UniProtKB:O14763-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 10B isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O14763-1", "PR:O14763-1", "ENSEMBL:ENSP00000276431", "ENSEMBL:ENSP00000276431.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H7D0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dedicator of cytokinesis protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H7D0-1", "PR:Q9H7D0-1", "ENSEMBL:ENSP00000276440", "ENSEMBL:ENSP00000276440.7"], "information_content": 100.0}
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{"id": "NCBIGene:9705", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ST18", "equivalent_identifiers": ["NCBIGene:9705", "ENSEMBL:ENSG00000147488", "HGNC:18695", "OMIM:617155", "UMLS:C1425715", "UniProtKB:O60284", "PR:O60284", "ENSEMBL:ENSP00000276480", "ENSEMBL:ENSP00000276480.7", "ENSEMBL:ENSP00000508476", "ENSEMBL:ENSP00000508476.1", "ENSEMBL:ENSP00000509475", "ENSEMBL:ENSP00000509475.1", "ENSEMBL:ENSP00000514122", "ENSEMBL:ENSP00000514122.1", "UMLS:C1566434", "MESH:C497230"], "information_content": 100.0}
{"id": "DOID:0081146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "common variable immunodeficiency 3", "equivalent_identifiers": ["DOID:0081146"]}
{"id": "UniProtKB:Q9BRT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA replication complex GINS protein SLD5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRT9-1", "PR:Q9BRT9-1", "ENSEMBL:ENSP00000276533", "ENSEMBL:ENSP00000276533.3", "ENSEMBL:ENSP00000428754", "ENSEMBL:ENSP00000428754.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "armadillo repeat-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVT9-1", "PR:Q9NVT9-1", "ENSEMBL:ENSP00000276569", "ENSEMBL:ENSP00000276569.3"], "information_content": 100.0}
{"id": "MONDO:0011285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age related macular degeneration 1", "equivalent_identifiers": ["MONDO:0011285", "DOID:0110014", "OMIM:603075", "UMLS:C1864205", "MESH:C566411", "medgen:400475"], "information_content": 100.0}
{"id": "NCBIGene:85479", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJC5B", "equivalent_identifiers": ["NCBIGene:85479", "ENSEMBL:ENSG00000147570", "HGNC:24138", "OMIM:613945", "UMLS:C1428350", "UniProtKB:A0A024R7Z1", "UniProtKB:Q9UF47", "PR:Q9UF47", "ENSEMBL:ENSP00000276570", "ENSEMBL:ENSP00000276570.5"], "information_content": 95.4}
{"id": "NCBIGene:1392", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRH", "equivalent_identifiers": ["NCBIGene:1392", "ENSEMBL:ENSG00000147571", "HGNC:2355", "OMIM:122560", "UMLS:C1366488", "UniProtKB:A0A0S2Z478", "UniProtKB:P06850", "PR:P06850", "ENSEMBL:ENSP00000276571", "ENSEMBL:ENSP00000276571.3", "UMLS:C0772289", "DRUGBANK:DB05394"], "information_content": 100.0}
{"id": "MONDO:0020528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ACTH-dependent Cushing syndrome", "equivalent_identifiers": ["MONDO:0020528", "DOID:3946", "orphanet:99892", "EFO:1001110", "UMLS:C0342442", "MESH:D047748", "SNOMEDCT:190502001", "SNOMEDCT:237734007", "medgen:575036", "icd11.foundation:212778081", "ICD10:E24.0"], "information_content": 92.8}
{"id": "MONDO:0001830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "somatization disorder", "equivalent_identifiers": ["MONDO:0001830", "DOID:13918", "UMLS:C0520482", "MEDDRA:10006368", "MEDDRA:10006369", "MEDDRA:10041318", "MEDDRA:10041319", "SNOMEDCT:397795007", "SNOMEDCT:397826007", "SNOMEDCT:397923000", "medgen:99241", "ICD10:F45.0", "ICD9:300.81"], "information_content": 100.0}
{"id": "MONDO:0006015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waterhouse-Friderichsen syndrome", "equivalent_identifiers": ["MONDO:0006015", "DOID:9931", "orphanet:100067", "EFO:0007544", "UMLS:C0043068", "UMLS:C1403891", "MESH:D014884", "MEDDRA:10017371", "MEDDRA:10047846", "MEDDRA:10047847", "NCIT:C85225", "SNOMEDCT:36102002", "medgen:234675", "icd11.foundation:2072098125"], "information_content": 100.0}
{"id": "NCBIGene:51110", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LACTB2", "equivalent_identifiers": ["NCBIGene:51110", "ENSEMBL:ENSG00000147592", "HGNC:18512", "OMIM:618921", "UMLS:C1425568", "UniProtKB:A0A024R811", "UMLS:C4276927", "MESH:C000607856", "UniProtKB:Q53H82", "PR:Q53H82", "ENSEMBL:ENSP00000276590", "ENSEMBL:ENSP00000276590.4", "ENSEMBL:ENSP00000428801", "ENSEMBL:ENSP00000428801.1"], "information_content": 84.2}
{"id": "NCBIGene:63978", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRDM14", "equivalent_identifiers": ["NCBIGene:63978", "ENSEMBL:ENSG00000147596", "HGNC:14001", "OMIM:611781", "UMLS:C1422338", "UniProtKB:Q9GZV8", "PR:Q9GZV8", "ENSEMBL:ENSP00000276594", "ENSEMBL:ENSP00000276594.2", "UMLS:C2001704", "MESH:C524724"], "information_content": 100.0}
{"id": "UniProtKB:P54274-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "telomeric repeat-binding factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P54274-1", "PR:P54274-1", "ENSEMBL:ENSP00000276603", "ENSEMBL:ENSP00000276603.5"], "information_content": 100.0}
{"id": "NCBIGene:85481", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSKH2", "equivalent_identifiers": ["NCBIGene:85481", "ENSEMBL:ENSG00000147613", "HGNC:18997", "OMIM:620394", "UMLS:C1538739", "UniProtKB:Q96QS6", "PR:Q96QS6", "ENSEMBL:ENSP00000276616", "ENSEMBL:ENSP00000276616.2"], "information_content": 100.0}
{"id": "NCBIGene:1807", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPYS", "equivalent_identifiers": ["NCBIGene:1807", "ENSEMBL:ENSG00000147647", "HGNC:3013", "OMIM:613326", "UMLS:C1414144", "UniProtKB:Q14117", "PR:Q14117", "ENSEMBL:ENSP00000276651", "ENSEMBL:ENSP00000276651.2"], "information_content": 95.4}
{"id": "MONDO:0010299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoxanthine guanine phosphoribosyltransferase partial deficiency", "equivalent_identifiers": ["MONDO:0010299", "DOID:0112127", "OMIM:300323", "orphanet:79233", "UMLS:C0268117", "MESH:C562583", "MEDDRA:10057583", "MEDDRA:10057588", "SNOMEDCT:238007004", "medgen:82770"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y561-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "low-density lipoprotein receptor-related protein 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y561-1", "PR:Q9Y561-1", "ENSEMBL:ENSP00000276654", "ENSEMBL:ENSP00000276654.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "R-spondin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXX9-1", "PR:Q6UXX9-1", "ENSEMBL:ENSP00000276659", "ENSEMBL:ENSP00000276659.5"], "information_content": 100.0}
{"id": "MONDO:0009720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Keipert syndrome", "equivalent_identifiers": ["MONDO:0009720", "DOID:0111842", "OMIM:301026", "orphanet:2662", "UMLS:C1850627", "MESH:C538337", "NCIT:C186306", "SNOMEDCT:763774001", "medgen:338088"], "information_content": 100.0}
{"id": "NCBIGene:4715", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFB9", "equivalent_identifiers": ["NCBIGene:4715", "ENSEMBL:ENSG00000147684", "HGNC:7704", "OMIM:601445", "UMLS:C1417641", "UniProtKB:E9PH64", "ENSEMBL:ENSP00000430322", "ENSEMBL:ENSP00000430322.1", "UMLS:C0766870", "MESH:C118906", "UniProtKB:Q9Y6M9", "PR:Q9Y6M9", "ENSEMBL:ENSP00000276689", "ENSEMBL:ENSP00000276689.3", "ENSEMBL:ENSP00000504235", "ENSEMBL:ENSP00000504235.1"], "information_content": 92.8}
{"id": "UniProtKB:Q6P1N9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deoxyribonuclease TATDN1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P1N9-1", "PR:Q6P1N9-1", "ENSEMBL:ENSP00000276692", "ENSEMBL:ENSP00000276692.6", "ENSEMBL:ENSP00000517241", "ENSEMBL:ENSP00000517241.1"], "information_content": 100.0}
{"id": "MONDO:0003930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-invasive bladder urothelial carcinoma", "equivalent_identifiers": ["MONDO:0003930", "DOID:6571", "UMLS:C1336089", "MEDDRA:10066749", "NCIT:C6188", "medgen:233466"], "information_content": 92.8}
{"id": "NCBIGene:56169", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSDMC", "equivalent_identifiers": ["NCBIGene:56169", "ENSEMBL:ENSG00000147697", "HGNC:7151", "OMIM:608384", "UMLS:C1417197", "UniProtKB:Q9BYG8", "PR:Q9BYG8", "ENSEMBL:ENSP00000276708", "ENSEMBL:ENSP00000276708.4", "UMLS:C0965990", "MESH:C425469"], "information_content": 95.4}
{"id": "NCBIGene:7564", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF16", "equivalent_identifiers": ["NCBIGene:7564", "ENSEMBL:ENSG00000170631", "HGNC:12947", "OMIM:601262", "UMLS:C1421649", "UniProtKB:P17020", "PR:P17020", "ENSEMBL:ENSP00000276816", "ENSEMBL:ENSP00000276816.4", "ENSEMBL:ENSP00000378369", "ENSEMBL:ENSP00000378369.2", "ENSEMBL:ENSP00000484504", "ENSEMBL:ENSP00000484504.1", "UMLS:C5433479", "MESH:C000711992"], "information_content": 100.0}
{"id": "MONDO:0009883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-2-plasmin inhibitor deficiency", "equivalent_identifiers": ["MONDO:0009883", "DOID:0060601", "OMIM:262850", "orphanet:79", "UMLS:C2752081", "UMLS:C3489734", "UMLS:C4274304", "MESH:C537777", "SNOMEDCT:716746003", "medgen:414178", "icd11.foundation:688627594", "ICD10:D68.8"], "information_content": 100.0}
{"id": "MONDO:0009652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GNPTG-mucolipidosis", "equivalent_identifiers": ["MONDO:0009652", "DOID:0080678", "OMIM:252605", "orphanet:423470", "UMLS:C1854896", "MESH:C565367", "NCIT:C129978", "medgen:340743"], "information_content": 100.0}
{"id": "UniProtKB:Q96PU4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase UHRF2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PU4-1", "PR:Q96PU4-1", "ENSEMBL:ENSP00000276893", "ENSEMBL:ENSP00000276893.5"], "information_content": 100.0}
{"id": "NCBIGene:123", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLIN2", "equivalent_identifiers": ["NCBIGene:123", "ENSEMBL:ENSG00000147872", "HGNC:248", "OMIM:103195", "UMLS:C1412234", "UniProtKB:Q6FHZ7", "UMLS:C4308336", "MESH:C000602982", "UniProtKB:Q99541", "PR:Q99541", "ENSEMBL:ENSP00000276914", "ENSEMBL:ENSP00000276914.2", "UMLS:C1505480"], "information_content": 90.9}
{"id": "UniProtKB:P42772-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 4 inhibitor B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P42772-1", "PR:P42772-1", "ENSEMBL:ENSP00000276925", "ENSEMBL:ENSP00000276925.6"], "information_content": 100.0}
{"id": "UniProtKB:P01562", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IFNA1_HUMAN Interferon alpha-1/13 (sprot)", "equivalent_identifiers": ["UniProtKB:P01562", "PR:P01562", "ENSEMBL:ENSP00000276927", "ENSEMBL:ENSP00000276927.1", "ENSEMBL:ENSP00000394494", "ENSEMBL:ENSP00000394494.2", "UMLS:C1334193", "MESH:C554324"], "information_content": 95.4}
{"id": "NCBIGene:56832", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFNK", "equivalent_identifiers": ["NCBIGene:56832", "ENSEMBL:ENSG00000147896", "HGNC:21714", "OMIM:615326", "UMLS:C1427711", "UniProtKB:Q9P0W0", "PR:Q9P0W0", "ENSEMBL:ENSP00000276943", "ENSEMBL:ENSP00000276943.2"], "information_content": 100.0}
{"id": "UniProtKB:Q99720-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sigma non-opioid intracellular receptor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99720-1", "PR:Q99720-1", "ENSEMBL:ENSP00000277010", "ENSEMBL:ENSP00000277010.4"], "information_content": 100.0}
{"id": "UniProtKB:Q16620-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BDNF/NT-3 growth factors receptor isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q16620-4", "PR:Q16620-4", "ENSEMBL:ENSP00000277120", "ENSEMBL:ENSP00000277120.3", "ENSEMBL:ENSP00000510134", "ENSEMBL:ENSP00000510134.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZB2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "constitutive coactivator of PPAR-gamma-like protein 1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9NZB2-1", "PR:Q9NZB2-1", "ENSEMBL:ENSP00000277165", "ENSEMBL:ENSP00000277165.5"], "information_content": 100.0}
{"id": "NCBIGene:138804", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR13C4", "equivalent_identifiers": ["NCBIGene:138804", "ENSEMBL:ENSG00000148136", "HGNC:14722", "UMLS:C1422873", "UniProtKB:A0A126GVC9", "UniProtKB:Q8NGS5", "PR:Q8NGS5", "ENSEMBL:ENSP00000277216", "ENSEMBL:ENSP00000277216.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96JM2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 462 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JM2-1", "PR:Q96JM2-1", "ENSEMBL:ENSP00000277225", "ENSEMBL:ENSP00000277225.5"], "information_content": 100.0}
{"id": "UniProtKB:A0AAA9WZE8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0AAA9WZE8_HUMAN Lipocalin 9 (trembl)", "equivalent_identifiers": ["UniProtKB:A0AAA9WZE8", "ENSEMBL:ENSP00000277526", "ENSEMBL:ENSP00000277526.4"]}
{"id": "MONDO:0004861", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ophthalmia nodosa", "equivalent_identifiers": ["MONDO:0004861", "DOID:9722", "UMLS:C0154775", "MEDDRA:10030863", "SNOMEDCT:12371008", "medgen:509654", "icd11.foundation:691596189", "ICD10:H16.24", "ICD9:360.14"], "information_content": 100.0}
{"id": "NCBIGene:92715", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPH7", "equivalent_identifiers": ["NCBIGene:92715", "ENSEMBL:ENSG00000148399", "HGNC:25199", "OMIM:613210", "UMLS:C1823846", "UniProtKB:Q9BTV6", "PR:Q9BTV6", "ENSEMBL:ENSP00000277540", "ENSEMBL:ENSP00000277540.2", "UMLS:C5391628", "MESH:C000706694"], "information_content": 100.0}
{"id": "NCBIGene:138151", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NACC2", "equivalent_identifiers": ["NCBIGene:138151", "ENSEMBL:ENSG00000148411", "HGNC:23846", "OMIM:615786", "UMLS:C1428294", "UniProtKB:Q96BF6", "PR:Q96BF6", "ENSEMBL:ENSP00000277554", "ENSEMBL:ENSP00000277554.2", "ENSEMBL:ENSP00000360818", "ENSEMBL:ENSP00000360818.1", "UMLS:C3816960"], "information_content": 100.0}
{"id": "UniProtKB:Q86WR7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline and serine-rich protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WR7-1", "PR:Q86WR7-1", "ENSEMBL:ENSP00000277570", "ENSEMBL:ENSP00000277570.5"], "information_content": 100.0}
{"id": "UniProtKB:Q92738-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "USP6 N-terminal-like protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92738-2", "PR:Q92738-2", "ENSEMBL:ENSP00000277575", "ENSEMBL:ENSP00000277575.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9H8M7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase MINDY-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8M7-1", "PR:Q9H8M7-1", "ENSEMBL:ENSP00000277632", "ENSEMBL:ENSP00000277632.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96F24-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor-binding factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96F24-1", "PR:Q96F24-1", "ENSEMBL:ENSP00000277746", "ENSEMBL:ENSP00000277746.6"], "information_content": 100.0}
{"id": "UniProtKB:P00367-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate dehydrogenase 1, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P00367-1", "PR:P00367-1", "ENSEMBL:ENSP00000277865", "ENSEMBL:ENSP00000277865.4"], "information_content": 100.0}
{"id": "UniProtKB:Q14520-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hyaluronan-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14520-1", "PR:Q14520-1", "ENSEMBL:ENSP00000277903", "ENSEMBL:ENSP00000277903.4"], "information_content": 100.0}
{"id": "NCBIGene:64106", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPFFR1", "equivalent_identifiers": ["NCBIGene:64106", "ENSEMBL:ENSG00000148734", "HGNC:17425", "OMIM:607448", "UMLS:C1826463", "UniProtKB:Q9GZQ6", "PR:Q9GZQ6", "ENSEMBL:ENSP00000277942", "ENSEMBL:ENSP00000277942.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6QHF9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal N(1)-acetyl-spermine/spermidine oxidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6QHF9-2", "PR:Q6QHF9-2", "ENSEMBL:ENSP00000278060", "ENSEMBL:ENSP00000278060.5"], "information_content": 100.0}
{"id": "MONDO:0000450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secondary progressive multiple sclerosis", "equivalent_identifiers": ["MONDO:0000450", "DOID:0050783", "EFO:0008522", "UMLS:C0751965", "MEDDRA:10063400", "SNOMEDCT:425500002", "medgen:155969", "icd11.foundation:1045965709"], "information_content": 100.0}
{"id": "UniProtKB:Q5VV67-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisome proliferator-activated receptor gamma coactivator-related protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VV67-1", "PR:Q5VV67-1", "ENSEMBL:ENSP00000278070", "ENSEMBL:ENSP00000278070.2"], "information_content": 100.0}
{"id": "NCBIGene:55327", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIN7C", "equivalent_identifiers": ["NCBIGene:55327", "ENSEMBL:ENSG00000148943", "HGNC:17789", "OMIM:612332", "UMLS:C1425077", "UniProtKB:Q9NUP9", "PR:Q9NUP9", "ENSEMBL:ENSP00000278193", "ENSEMBL:ENSP00000278193.2", "UMLS:C1433488", "MESH:C486531"], "information_content": 92.8}
{"id": "NCBIGene:57689", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC4C", "equivalent_identifiers": ["NCBIGene:57689", "ENSEMBL:ENSG00000148948", "HGNC:29317", "OMIM:608817", "UMLS:C1825875", "UniProtKB:Q4JIV9", "UMLS:C1434045", "MESH:C480698", "UniProtKB:Q4JIW0", "UniProtKB:Q9HCJ2", "PR:Q9HCJ2", "ENSEMBL:ENSP00000278198", "ENSEMBL:ENSP00000278198.1", "ENSEMBL:ENSP00000434761", "ENSEMBL:ENSP00000434761.1", "ENSEMBL:ENSP00000436976", "ENSEMBL:ENSP00000436976.1", "ENSEMBL:ENSP00000437132", "ENSEMBL:ENSP00000437132.1", "ENSEMBL:ENSP00000480903", "ENSEMBL:ENSP00000480903.1"], "information_content": 95.4}
{"id": "NCBIGene:196294", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IMMP1L", "equivalent_identifiers": ["NCBIGene:196294", "ENSEMBL:ENSG00000148950", "HGNC:26317", "OMIM:612323", "UMLS:C1825596", "UniProtKB:Q96LU5", "PR:Q96LU5", "ENSEMBL:ENSP00000278200", "ENSEMBL:ENSP00000278200.1", "ENSEMBL:ENSP00000435576", "ENSEMBL:ENSP00000435576.1"], "information_content": 95.4}
{"id": "MONDO:0008795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia-cerebellar ataxia-intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0008795", "DOID:0111578", "OMIM:206700", "orphanet:1065", "UMLS:C0431401", "MESH:C536370", "MEDDRA:10083891", "SNOMEDCT:253176002", "medgen:96563"], "information_content": 100.0}
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{"id": "NCBIGene:6291", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAA4", "equivalent_identifiers": ["NCBIGene:6291", "ENSEMBL:ENSG00000148965", "HGNC:10516", "OMIM:104752", "UMLS:C1419802", "UniProtKB:P35542", "PR:P35542", "ENSEMBL:ENSP00000278222", "ENSEMBL:ENSP00000278222.4", "UMLS:C1438036", "MESH:C094771"], "information_content": 95.4}
{"id": "UniProtKB:Q9UHJ9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "post-GPI attachment to proteins factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHJ9-2", "PR:Q9UHJ9-2", "ENSEMBL:ENSP00000278243", "ENSEMBL:ENSP00000278243.4", "ENSEMBL:ENSP00000434631", "ENSEMBL:ENSP00000434631.2"], "information_content": 100.0}
{"id": "NCBIGene:7356", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCGB1A1", "equivalent_identifiers": ["NCBIGene:7356", "ENSEMBL:ENSG00000149021", "HGNC:12523", "OMIM:192020", "UMLS:C1421318", "UniProtKB:A0A0S2Z4R6", "UMLS:C1505089", "MESH:C556389", "UniProtKB:P11684", "PR:P11684", "ENSEMBL:ENSP00000278282", "ENSEMBL:ENSP00000278282.2"], "information_content": 100.0}
{"id": "NCBIGene:7761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF214", "equivalent_identifiers": ["NCBIGene:7761", "ENSEMBL:ENSG00000149050", "HGNC:13006", "OMIM:605015", "UMLS:C1421702", "UniProtKB:B7ZMB1", "UniProtKB:Q9UL59", "PR:Q9UL59", "ENSEMBL:ENSP00000278314", "ENSEMBL:ENSP00000278314.4", "ENSEMBL:ENSP00000445373", "ENSEMBL:ENSP00000445373.1", "UMLS:C1438993", "MESH:C409745"], "information_content": 100.0}
{"id": "UniProtKB:Q9UL58-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 215 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UL58-1", "PR:Q9UL58-1", "ENSEMBL:ENSP00000278319", "ENSEMBL:ENSP00000278319.5", "ENSEMBL:ENSP00000393202", "ENSEMBL:ENSP00000393202.2"], "information_content": 100.0}
{"id": "UniProtKB:Q53GQ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "very-long-chain 3-oxoacyl-CoA reductase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q53GQ0-1", "PR:Q53GQ0-1", "ENSEMBL:ENSP00000278353", "ENSEMBL:ENSP00000278353.4"], "information_content": 100.0}
{"id": "UniProtKB:P43004-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "excitatory amino acid transporter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43004-1", "PR:P43004-1", "ENSEMBL:ENSP00000278379", "ENSEMBL:ENSP00000278379.3"], "information_content": 100.0}
{"id": "UniProtKB:P05155-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plasma protease C1 inhibitor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P05155-1", "PR:P05155-1", "ENSEMBL:ENSP00000278407", "ENSEMBL:ENSP00000278407.4", "ENSEMBL:ENSP00000504807", "ENSEMBL:ENSP00000504807.1"], "information_content": 100.0}
{"id": "MONDO:0001203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prolapse of lacrimal gland", "equivalent_identifiers": ["MONDO:0001203", "DOID:11134", "UMLS:C0155231", "MEDDRA:10013177", "SNOMEDCT:84777002", "medgen:509860", "ICD10:H04.16", "ICD9:375.16"], "information_content": 100.0}
{"id": "MONDO:0000739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uvulitis", "equivalent_identifiers": ["MONDO:0000739", "DOID:0060310", "UMLS:C0042174", "MEDDRA:10051962", "NCIT:C128385", "SNOMEDCT:300932000", "medgen:508266", "icd11.foundation:776797866", "ICD10:K12.2"], "information_content": 100.0}
{"id": "NCBIGene:338674", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5F1", "equivalent_identifiers": ["NCBIGene:338674", "ENSEMBL:ENSG00000149133", "HGNC:8343", "OMIM:608492", "UMLS:C1418089", "UniProtKB:O95221", "PR:O95221", "ENSEMBL:ENSP00000278409", "ENSEMBL:ENSP00000278409.1"], "information_content": 100.0}
{"id": "MONDO:0005512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant peritoneal mesothelioma", "equivalent_identifiers": ["MONDO:0005512", "DOID:1788", "orphanet:168811", "EFO:0005567", "UMLS:C0346109", "UMLS:C0854886", "MEDDRA:10034669", "MEDDRA:10056558", "NCIT:C8704", "NCIT:C9350", "medgen:83406", "ICD10:C45.1"], "information_content": 84.2}
{"id": "NCBIGene:6749", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSRP1", "equivalent_identifiers": ["NCBIGene:6749", "ENSEMBL:ENSG00000149136", "HGNC:11327", "OMIM:604328", "UMLS:C1420432", "UniProtKB:Q08945", "PR:Q08945", "ENSEMBL:ENSP00000278412", "ENSEMBL:ENSP00000278412.2", "UMLS:C0209994", "MESH:C073537"], "information_content": 92.8}
{"id": "UniProtKB:Q9Y320-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin-related transmembrane protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y320-1", "PR:Q9Y320-1", "ENSEMBL:ENSP00000278422", "ENSEMBL:ENSP00000278422.4"], "information_content": 100.0}
{"id": "UniProtKB:O75387-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large neutral amino acids transporter small subunit 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75387-1", "PR:O75387-1", "ENSEMBL:ENSP00000278426", "ENSEMBL:ENSP00000278426.3", "ENSEMBL:ENSP00000435673", "ENSEMBL:ENSP00000435673.1"], "information_content": 100.0}
{"id": "NCBIGene:51501", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HIKESHI", "equivalent_identifiers": ["NCBIGene:51501", "ENSEMBL:ENSG00000149196", "HGNC:26938", "OMIM:614908", "UMLS:C1824339", "UniProtKB:Q53FT3", "PR:Q53FT3", "ENSEMBL:ENSP00000278483", "ENSEMBL:ENSP00000278483.3"], "information_content": 100.0}
{"id": "NCBIGene:23052", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ENDOD1", "equivalent_identifiers": ["NCBIGene:23052", "ENSEMBL:ENSG00000149218", "HGNC:29129", "OMIM:619568", "UMLS:C1825052", "UniProtKB:O94919", "PR:O94919", "ENSEMBL:ENSP00000278505", "ENSEMBL:ENSP00000278505.4", "UMLS:C4705181", "MESH:C000626466"], "information_content": 95.4}
{"id": "NCBIGene:26011", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TENM4", "equivalent_identifiers": ["NCBIGene:26011", "ENSEMBL:ENSG00000149256", "HGNC:29945", "OMIM:610084", "UMLS:C1538512", "UniProtKB:Q6N022", "PR:Q6N022", "ENSEMBL:ENSP00000278550", "ENSEMBL:ENSP00000278550.7", "UMLS:C3529480", "MESH:C576539"], "information_content": 95.4}
{"id": "UniProtKB:Q13153-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase PAK 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13153-2", "PR:Q13153-2", "ENSEMBL:ENSP00000278568", "ENSEMBL:ENSP00000278568.4"], "information_content": 100.0}
{"id": "UniProtKB:P23396-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ribosomal subunit protein uS3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P23396-2", "PR:P23396-2", "ENSEMBL:ENSP00000278572", "ENSEMBL:ENSP00000278572.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0D7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable ribonuclease ZC3H12C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0D7-1", "PR:Q9C0D7-1", "ENSEMBL:ENSP00000278590", "ENSEMBL:ENSP00000278590.3"], "information_content": 100.0}
{"id": "NCBIGene:4863", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPAT", "equivalent_identifiers": ["NCBIGene:4863", "ENSEMBL:ENSG00000149308", "HGNC:7896", "OMIM:601448", "UMLS:C1417775", "UniProtKB:Q14207", "PR:Q14207", "ENSEMBL:ENSP00000278612", "ENSEMBL:ENSP00000278612.8", "ENSEMBL:ENSP00000520908", "ENSEMBL:ENSP00000520908.1", "UMLS:C0530328", "MESH:C101693"], "information_content": 90.9}
{"id": "MONDO:0014054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphoproliferative syndrome 2", "equivalent_identifiers": ["MONDO:0014054", "DOID:0060708", "OMIM:615122", "UMLS:C3554540", "medgen:767454"], "information_content": 100.0}
{"id": "NCBIGene:472", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATM", "equivalent_identifiers": ["NCBIGene:472", "ENSEMBL:ENSG00000149311", "HGNC:795", "OMIM:607585", "UMLS:C0919524", "UniProtKB:A0AAQ5BH18", "ENSEMBL:ENSP00000519148", "ENSEMBL:ENSP00000519148.1", "UniProtKB:Q13315", "PR:Q13315", "ENSEMBL:ENSP00000278616", "ENSEMBL:ENSP00000278616.4", "ENSEMBL:ENSP00000388058", "ENSEMBL:ENSP00000388058.2", "ENSEMBL:ENSP00000469471", "ENSEMBL:ENSP00000469471.2", "ENSEMBL:ENSP00000501606", "ENSEMBL:ENSP00000501606.1", "ENSEMBL:ENSP00000519149", "ENSEMBL:ENSP00000519149.1", "UMLS:C3711796", "MESH:C576324", "UniProtKB:Q6P7P1", "ENSEMBL:ENSP00000432318", "ENSEMBL:ENSP00000432318.2", "ENSEMBL:ENSP00000480205", "ENSEMBL:ENSP00000480205.1", "ENSEMBL:ENSP00000491585", "ENSEMBL:ENSP00000491585.1", "ENSEMBL:ENSP00000491957", "ENSEMBL:ENSP00000491957.1", "ENSEMBL:ENSP00000492354", "ENSEMBL:ENSP00000492354.1", "ENSEMBL:ENSP00000492487", "ENSEMBL:ENSP00000492487.1", "ENSEMBL:ENSP00000507125", "ENSEMBL:ENSP00000507125.1", "ENSEMBL:ENSP00000507649", "ENSEMBL:ENSP00000507649.1", "ENSEMBL:ENSP00000508178", "ENSEMBL:ENSP00000508178.1", "ENSEMBL:ENSP00000508284", "ENSEMBL:ENSP00000508284.1", "ENSEMBL:ENSP00000519150", "ENSEMBL:ENSP00000519150.1", "ENSEMBL:ENSP00000519151", "ENSEMBL:ENSP00000519151.1", "ENSEMBL:ENSP00000519152", "ENSEMBL:ENSP00000519152.1"], "information_content": 80.9}
{"id": "UniProtKB:Q9NRN7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRN7-1", "PR:Q9NRN7-1", "ENSEMBL:ENSP00000278618", "ENSEMBL:ENSP00000278618.4"], "information_content": 100.0}
{"id": "MONDO:0014077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 5", "equivalent_identifiers": ["MONDO:0014077", "DOID:0112230", "OMIM:615191", "orphanet:352682", "UMLS:C3554657", "medgen:767571"], "information_content": 100.0}
{"id": "NCBIGene:55004", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LAMTOR1", "equivalent_identifiers": ["NCBIGene:55004", "ENSEMBL:ENSG00000149357", "HGNC:26068", "OMIM:613510", "UMLS:C1824325", "UniProtKB:Q6IAA8", "PR:Q6IAA8", "ENSEMBL:ENSP00000278671", "ENSEMBL:ENSP00000278671.5", "UMLS:C2743687", "MESH:C544374"], "information_content": 90.9}
{"id": "NCBIGene:6768", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ST14", "equivalent_identifiers": ["NCBIGene:6768", "ENSEMBL:ENSG00000149418", "HGNC:11344", "OMIM:606797", "UMLS:C1366520", "UniProtKB:Q9Y5Y6", "PR:Q9Y5Y6", "ENSEMBL:ENSP00000278742", "ENSEMBL:ENSP00000278742.5", "UMLS:C1451644", "MESH:C485596"], "information_content": 95.4}
{"id": "UniProtKB:Q9BRP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor Ovo-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRP0-1", "PR:Q9BRP0-1", "ENSEMBL:ENSP00000278780", "ENSEMBL:ENSP00000278780.5"], "information_content": 100.0}
{"id": "MONDO:0000766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal endothelial dystrophy", "equivalent_identifiers": ["MONDO:0000766", "DOID:0060443", "UMLS:C5441823", "MEDDRA:10014823", "SNOMEDCT:416960004", "medgen:1779156"], "information_content": 81.3}
{"id": "MONDO:0020370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cogan-Reese syndrome", "equivalent_identifiers": ["MONDO:0020370", "DOID:0060217", "orphanet:98980", "UMLS:C1168173", "MEDDRA:10059200", "NCIT:C84644", "SNOMEDCT:404633004", "medgen:218910", "icd11.foundation:1968906450"], "information_content": 100.0}
{"id": "UniProtKB:O94776-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metastasis-associated protein MTA2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O94776-1", "PR:O94776-1", "ENSEMBL:ENSP00000278823", "ENSEMBL:ENSP00000278823.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NPI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 138 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPI0-1", "PR:Q9NPI0-1", "ENSEMBL:ENSP00000278826", "ENSEMBL:ENSP00000278826.5", "ENSEMBL:ENSP00000510149", "ENSEMBL:ENSP00000510149.1"], "information_content": 100.0}
{"id": "NCBIGene:3995", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FADS3", "equivalent_identifiers": ["NCBIGene:3995", "ENSEMBL:ENSG00000221968", "HGNC:3576", "OMIM:606150", "UMLS:C1414523", "UniProtKB:E9PKP8", "ENSEMBL:ENSP00000431533", "ENSEMBL:ENSP00000431533.1", "UniProtKB:Q9Y5Q0", "PR:Q9Y5Q0", "ENSEMBL:ENSP00000278829", "ENSEMBL:ENSP00000278829.2", "UMLS:C2744475", "MESH:C545859"], "information_content": 100.0}
{"id": "MONDO:0007759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlipidemia, familial combined, LPL related", "equivalent_identifiers": ["MONDO:0007759", "DOID:13809", "OMIM:144250", "UMLS:C0020474", "MESH:D006950", "MEDDRA:10045263", "MEDDRA:10054675", "NCIT:C35637", "SNOMEDCT:238040008", "SNOMEDCT:299465007", "medgen:6965", "ICD10:E78.49", "HP:0008158"], "information_content": 100.0}
{"id": "MONDO:0018213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory and autonomic neuropathy type 1", "equivalent_identifiers": ["MONDO:0018213", "DOID:0070162", "orphanet:36386", "UMLS:C0020071", "NCIT:C170433", "SNOMEDCT:230553002", "SNOMEDCT:397734008", "medgen:5645", "icd11.foundation:1989773046"], "information_content": 87.2}
{"id": "NCBIGene:6094", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ROM1", "equivalent_identifiers": ["NCBIGene:6094", "ENSEMBL:ENSG00000149489", "HGNC:10254", "OMIM:180721", "UMLS:C1419600", "UniProtKB:Q03395", "PR:Q03395", "ENSEMBL:ENSP00000278833", "ENSEMBL:ENSP00000278833.3", "UMLS:C1690860", "MESH:C513106"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2G1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myelin regulatory factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2G1-1", "PR:Q9Y2G1-1", "ENSEMBL:ENSP00000278836", "ENSEMBL:ENSP00000278836.4"], "information_content": 100.0}
{"id": "UniProtKB:O95864-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-CoA 6-desaturase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95864-1", "PR:O95864-1", "ENSEMBL:ENSP00000278840", "ENSEMBL:ENSP00000278840.4"], "information_content": 100.0}
{"id": "NCBIGene:22917", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZP1", "equivalent_identifiers": ["NCBIGene:22917", "ENSEMBL:ENSG00000149506", "HGNC:13187", "OMIM:195000", "UMLS:C1421864", "UniProtKB:P60852", "PR:P60852", "ENSEMBL:ENSP00000278853", "ENSEMBL:ENSP00000278853.5", "UMLS:C4307969", "MESH:C000606514", "UniProtKB:V9HWI9"], "information_content": 100.0}
{"id": "UniProtKB:Q96HJ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-spanning 4-domains subfamily A member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HJ5-1", "PR:Q96HJ5-1", "ENSEMBL:ENSP00000278865", "ENSEMBL:ENSP00000278865.3", "ENSEMBL:ENSP00000495201", "ENSEMBL:ENSP00000495201.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2I6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ninein-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2I6-1", "PR:Q9Y2I6-1", "ENSEMBL:ENSP00000278886", "ENSEMBL:ENSP00000278886.6"], "information_content": 100.0}
{"id": "MONDO:0001329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "accommodative spasm", "equivalent_identifiers": ["MONDO:0001329", "DOID:11637", "UMLS:C0152196", "MEDDRA:10000392", "MEDDRA:10041393", "SNOMEDCT:30069002", "medgen:508923", "ICD10:H52.53", "ICD9:367.53"], "information_content": 100.0}
{"id": "DOID:0080624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heimler syndrome 2", "equivalent_identifiers": ["DOID:0080624"]}
{"id": "NCBIGene:2206", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MS4A2", "equivalent_identifiers": ["NCBIGene:2206", "ENSEMBL:ENSG00000149534", "HGNC:7316", "OMIM:147138", "UMLS:C1417327", "UniProtKB:A0A0B4J2E9", "ENSEMBL:ENSP00000482594", "ENSEMBL:ENSP00000482594.1", "UMLS:C1571424", "MESH:C502447", "UniProtKB:Q01362", "PR:Q01362", "ENSEMBL:ENSP00000278888", "ENSEMBL:ENSP00000278888.3", "UMLS:C3540649"], "information_content": 92.8}
{"id": "UniProtKB:O14681-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "etoposide-induced protein 2.4 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14681-1", "PR:O14681-1", "ENSEMBL:ENSP00000278903", "ENSEMBL:ENSP00000278903.7", "ENSEMBL:ENSP00000484510", "ENSEMBL:ENSP00000484510.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96AP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endothelial cell-selective adhesion molecule isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AP7-1", "PR:Q96AP7-1", "ENSEMBL:ENSP00000278927", "ENSEMBL:ENSP00000278927.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPV0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 164 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPV0-1", "PR:Q9UPV0-1", "ENSEMBL:ENSP00000278935", "ENSEMBL:ENSP00000278935.3"], "information_content": 100.0}
{"id": "NCBIGene:10205", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MPZL2", "equivalent_identifiers": ["NCBIGene:10205", "ENSEMBL:ENSG00000149573", "HGNC:3496", "OMIM:604873", "UMLS:C1414478", "UniProtKB:O60487", "PR:O60487", "ENSEMBL:ENSP00000278937", "ENSEMBL:ENSP00000278937.2", "ENSEMBL:ENSP00000408362", "ENSEMBL:ENSP00000408362.2", "UMLS:C1608544", "MESH:C112474"], "information_content": 95.4}
{"id": "MONDO:0009082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "high myopia-sensorineural deafness syndrome", "equivalent_identifiers": ["MONDO:0009082", "DOID:0111628", "OMIM:221200", "orphanet:363396", "UMLS:C3806275", "UMLS:C4304026", "SNOMEDCT:720506002", "medgen:812605"], "information_content": 100.0}
{"id": "NCBIGene:6327", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCN2B", "equivalent_identifiers": ["NCBIGene:6327", "ENSEMBL:ENSG00000149575", "HGNC:10589", "OMIM:601327", "UMLS:C1419860", "UniProtKB:O60939", "PR:O60939", "ENSEMBL:ENSP00000278947", "ENSEMBL:ENSP00000278947.5", "UMLS:C1431726", "MESH:C117620", "UniProtKB:Q5U0K8"], "information_content": 92.8}
{"id": "UniProtKB:Q6UWV2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myelin protein zero-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWV2-1", "PR:Q6UWV2-1", "ENSEMBL:ENSP00000278949", "ENSEMBL:ENSP00000278949.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H1R2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein phosphatase 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1R2-1", "PR:Q9H1R2-1", "ENSEMBL:ENSP00000278979", "ENSEMBL:ENSP00000278979.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86VX2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "COMM domain-containing protein 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VX2-1", "PR:Q86VX2-1", "ENSEMBL:ENSP00000278980", "ENSEMBL:ENSP00000278980.6"], "information_content": 100.0}
{"id": "MONDO:0000446", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "midface dysplasia", "equivalent_identifiers": ["MONDO:0000446", "DOID:0050767"], "information_content": 100.0}
{"id": "UniProtKB:P24844-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin regulatory light polypeptide 9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P24844-1", "PR:P24844-1", "ENSEMBL:ENSP00000279022", "ENSEMBL:ENSP00000279022.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Na(+)/dicarboxylate cotransporter 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWT9-1", "PR:Q8WWT9-1", "ENSEMBL:ENSP00000279027", "ENSEMBL:ENSP00000279027.4"], "information_content": 100.0}
{"id": "MONDO:0009377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperammonemia due to N-acetylglutamate synthase deficiency", "equivalent_identifiers": ["MONDO:0009377", "DOID:0112258", "OMIM:237310", "orphanet:927", "UMLS:C0268543", "MESH:C536109", "MEDDRA:10071092", "NCIT:C129307", "SNOMEDCT:57119000", "medgen:120649"], "information_content": 100.0}
{"id": "NCBIGene:128506", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OCSTAMP", "equivalent_identifiers": ["NCBIGene:128506", "ENSEMBL:ENSG00000149635", "HGNC:16116", "OMIM:620432", "UMLS:C3471333", "UniProtKB:Q9BR26", "PR:Q9BR26", "ENSEMBL:ENSP00000279028", "ENSEMBL:ENSP00000279028.2", "UMLS:C4042653", "MESH:C000595081"], "information_content": 95.4}
{"id": "UniProtKB:Q969N2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GPI transamidase component PIG-T isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969N2-1", "PR:Q969N2-1", "ENSEMBL:ENSP00000279036", "ENSEMBL:ENSP00000279036.6"], "information_content": 100.0}
{"id": "MONDO:0018274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GM3 synthase deficiency", "equivalent_identifiers": ["MONDO:0018274", "DOID:0060470", "OMIM:609056", "orphanet:370933", "UMLS:C1836824", "MESH:C563799", "SNOMEDCT:722762005", "medgen:323005"], "information_content": 100.0}
{"id": "NCBIGene:391253", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPINT4", "equivalent_identifiers": ["NCBIGene:391253", "ENSEMBL:ENSG00000149651", "HGNC:16130", "OMIM:619430", "UMLS:C1427073", "UniProtKB:A0A384P5R1", "UniProtKB:Q6UDR6", "PR:Q6UDR6", "ENSEMBL:ENSP00000279058", "ENSEMBL:ENSP00000279058.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BX40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein LSM14 homolog B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BX40-1", "PR:Q9BX40-1", "ENSEMBL:ENSP00000279068", "ENSEMBL:ENSP00000279068.5"], "information_content": 100.0}
{"id": "MONDO:0013559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 7", "equivalent_identifiers": ["MONDO:0013559", "DOID:0060545", "OMIM:614076", "orphanet:231531", "UMLS:C3279756", "medgen:481386"], "information_content": 100.0}
{"id": "NCBIGene:9049", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AIP", "equivalent_identifiers": ["NCBIGene:9049", "ENSEMBL:ENSG00000110711", "HGNC:358", "OMIM:605555", "UMLS:C1412302", "UniProtKB:A0A804HJ38", "ENSEMBL:ENSP00000507343", "ENSEMBL:ENSP00000507343.1", "UMLS:C1173191", "UniProtKB:A0A804HKL7", "ENSEMBL:ENSP00000507979", "ENSEMBL:ENSP00000507979.1", "UniProtKB:O00170", "PR:O00170", "ENSEMBL:ENSP00000279146", "ENSEMBL:ENSP00000279146.3", "UMLS:C2987164"], "information_content": 87.2}
{"id": "NCBIGene:220064", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LTO1", "equivalent_identifiers": ["NCBIGene:220064", "ENSEMBL:ENSG00000149716", "HGNC:17589", "OMIM:607224", "UMLS:C1425006", "UniProtKB:Q8WV07", "PR:Q8WV07", "ENSEMBL:ENSP00000279147", "ENSEMBL:ENSP00000279147.5", "ENSEMBL:ENSP00000446129", "ENSEMBL:ENSP00000446129.1", "UMLS:C1143640", "MESH:C465628"], "information_content": 92.8}
{"id": "NCBIGene:170589", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPHA2", "equivalent_identifiers": ["NCBIGene:170589", "ENSEMBL:ENSG00000149735", "HGNC:18054", "OMIM:609651", "UMLS:C1425268", "UniProtKB:A0A024R579", "UMLS:C1173938", "UniProtKB:Q96T91", "PR:Q96T91", "ENSEMBL:ENSP00000279168", "ENSEMBL:ENSP00000279168.2", "ENSEMBL:ENSP00000432918", "ENSEMBL:ENSP00000432918.1"], "information_content": 95.4}
{"id": "UniProtKB:Q8IVM8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "organic anion transporter 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVM8-1", "PR:Q8IVM8-1", "ENSEMBL:ENSP00000279178", "ENSEMBL:ENSP00000279178.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRQ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uridine diphosphate glucose pyrophosphatase NUDT22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRQ3-1", "PR:Q9BRQ3-1", "ENSEMBL:ENSP00000279206", "ENSEMBL:ENSP00000279206.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86UX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fermitin family homolog 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UX7-1", "PR:Q86UX7-1", "ENSEMBL:ENSP00000279227", "ENSEMBL:ENSP00000279227.5", "ENSEMBL:ENSP00000513988", "ENSEMBL:ENSP00000513988.1"], "information_content": 100.0}
{"id": "NCBIGene:740", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL49", "equivalent_identifiers": ["NCBIGene:740", "ENSEMBL:ENSG00000149792", "HGNC:1176", "OMIM:606866", "UMLS:C1412875", "UniProtKB:Q13405", "PR:Q13405", "ENSEMBL:ENSP00000279242", "ENSEMBL:ENSP00000279242.2", "ENSEMBL:ENSP00000434190", "ENSEMBL:ENSP00000434190.1", "UMLS:C1307767", "MESH:C100930"], "information_content": 95.4}
{"id": "NCBIGene:10435", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC42EP2", "equivalent_identifiers": ["NCBIGene:10435", "ENSEMBL:ENSG00000149798", "HGNC:16263", "OMIM:606132", "UMLS:C1424136", "UniProtKB:O14613", "PR:O14613", "ENSEMBL:ENSP00000279249", "ENSEMBL:ENSP00000279249.2", "ENSEMBL:ENSP00000431660", "ENSEMBL:ENSP00000431660.1", "UMLS:C1309841", "MESH:C422984"], "information_content": 95.4}
{"id": "UniProtKB:O76062-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Delta(14)-sterol reductase TM7SF2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O76062-1", "PR:O76062-1", "ENSEMBL:ENSP00000279263", "ENSEMBL:ENSP00000279263.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9UID3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 51 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UID3-1", "PR:Q9UID3-1", "ENSEMBL:ENSP00000279281", "ENSEMBL:ENSP00000279281.3"], "information_content": 100.0}
{"id": "NCBIGene:5531", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP4C", "equivalent_identifiers": ["NCBIGene:5531", "ENSEMBL:ENSG00000149923", "HGNC:9319", "OMIM:602035", "UMLS:C1418850", "UniProtKB:A0A024R625", "UMLS:C2000013", "UniProtKB:P60510", "PR:P60510", "ENSEMBL:ENSP00000279387", "ENSEMBL:ENSP00000279387.7", "ENSEMBL:ENSP00000455995", "ENSEMBL:ENSP00000455995.1"], "information_content": 83.6}
{"id": "UniProtKB:Q9BW71-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HIRA-interacting protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BW71-1", "PR:Q9BW71-1", "ENSEMBL:ENSP00000279392", "ENSEMBL:ENSP00000279392.3"], "information_content": 100.0}
{"id": "MONDO:0013320", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 16p12.2-p11.2 deletion syndrome", "equivalent_identifiers": ["MONDO:0013320", "DOID:0060400", "OMIM:613604", "orphanet:261211", "UMLS:C3150858", "UMLS:C4304597", "SNOMEDCT:719576009", "medgen:462208"], "information_content": 100.0}
{"id": "MONDO:0013847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 16p11.2 duplication syndrome", "equivalent_identifiers": ["MONDO:0013847", "DOID:0060430", "OMIM:614671", "orphanet:370079", "UMLS:C3553407", "UMLS:C4707332", "SNOMEDCT:765142003", "medgen:766321", "ICD10:Q92.3"], "information_content": 100.0}
{"id": "NCBIGene:4319", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP10", "equivalent_identifiers": ["NCBIGene:4319", "ENSEMBL:ENSG00000166670", "HGNC:7156", "OMIM:185260", "UMLS:C1417200", "UniProtKB:P09238", "PR:P09238", "ENSEMBL:ENSP00000279441", "ENSEMBL:ENSP00000279441.4", "UMLS:C1723259", "MESH:C511770"], "information_content": 95.4}
{"id": "UniProtKB:Q16828-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein phosphatase 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16828-1", "PR:Q16828-1", "ENSEMBL:ENSP00000279488", "ENSEMBL:ENSP00000279488.6"], "information_content": 100.0}
{"id": "NCBIGene:5545", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRB4", "equivalent_identifiers": ["NCBIGene:5545", "ENSEMBL:ENSG00000230657", "HGNC:9340", "OMIM:180990", "UMLS:C1418869", "UniProtKB:E7EXA8", "ENSEMBL:ENSP00000412740", "ENSEMBL:ENSP00000412740.2", "ENSEMBL:ENSP00000481695", "ENSEMBL:ENSP00000481695.1", "ENSEMBL:ENSP00000487916", "ENSEMBL:ENSP00000487916.1", "UMLS:C2001109", "MESH:C524763", "UniProtKB:E9PAL0", "ENSEMBL:ENSP00000279575", "ENSEMBL:ENSP00000279575.1", "ENSEMBL:ENSP00000479661", "ENSEMBL:ENSP00000479661.1", "ENSEMBL:ENSP00000487696", "ENSEMBL:ENSP00000487696.1"]}
{"id": "UniProtKB:Q16619-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cardiotrophin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16619-1", "PR:Q16619-1", "ENSEMBL:ENSP00000279804", "ENSEMBL:ENSP00000279804.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14865-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AT-rich interactive domain-containing protein 5B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14865-1", "PR:Q14865-1", "ENSEMBL:ENSP00000279873", "ENSEMBL:ENSP00000279873.7"], "information_content": 100.0}
{"id": "UniProtKB:A0JNW5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bridge-like lipid transfer protein family member 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A0JNW5-1", "PR:A0JNW5-1", "ENSEMBL:ENSP00000279907", "ENSEMBL:ENSP00000279907.7"], "information_content": 100.0}
{"id": "MONDO:0008695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chorea-acanthocytosis", "equivalent_identifiers": ["MONDO:0008695", "DOID:0050766", "OMIM:200150", "orphanet:2388", "UMLS:C0393576", "MEDDRA:10081506", "SNOMEDCT:66881004", "medgen:98277"], "information_content": 100.0}
{"id": "MONDO:0004302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chief cell adenoma", "equivalent_identifiers": ["MONDO:0004302", "DOID:7607", "UMLS:C0334320", "MEDDRA:10033941", "NCIT:C4154", "SNOMEDCT:12205003", "medgen:83128"], "information_content": 100.0}
{"id": "UniProtKB:Q86T90-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein hinderin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86T90-1", "PR:Q86T90-1", "ENSEMBL:ENSP00000280020", "ENSEMBL:ENSP00000280020.5"], "information_content": 100.0}
{"id": "MONDO:0005522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "small intestine carcinoma", "equivalent_identifiers": ["MONDO:0005522", "DOID:4907", "EFO:0005588", "UMLS:C0238196", "UMLS:C3164749", "MEDDRA:10041123", "MEDDRA:10054184", "NCIT:C7724", "SNOMEDCT:448664009", "medgen:65952", "icd11.foundation:1484520499"], "information_content": 73.0}
{"id": "UniProtKB:Q86V42-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM124A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86V42-2", "PR:Q86V42-2", "ENSEMBL:ENSP00000280057", "ENSEMBL:ENSP00000280057.6"], "information_content": 100.0}
{"id": "MONDO:0005867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mycoplasma pneumoniae pneumonia", "equivalent_identifiers": ["MONDO:0005867", "DOID:13276", "EFO:0007387", "UMLS:C0032302", "MESH:D011019", "MEDDRA:10028472", "MEDDRA:10028478", "MEDDRA:10035683", "MEDDRA:10035724", "MEDDRA:10035730", "MEDDRA:10036679", "NCIT:C122526", "SNOMEDCT:46970008", "medgen:19363", "ICD10:J15.7", "ICD9:483.0"], "information_content": 100.0}
{"id": "UniProtKB:P50135-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histamine N-methyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P50135-1", "PR:P50135-1", "ENSEMBL:ENSP00000280097", "ENSEMBL:ENSP00000280097.3", "ENSEMBL:ENSP00000386940", "ENSEMBL:ENSP00000386940.1"], "information_content": 100.0}
{"id": "MONDO:0000668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autotopagnosia", "equivalent_identifiers": ["MONDO:0000668", "DOID:0060138", "UMLS:C0234511", "SNOMEDCT:24500009", "medgen:65883", "HP:5200413"], "information_content": 100.0}
{"id": "NCBIGene:339745", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPOPL", "equivalent_identifiers": ["NCBIGene:339745", "ENSEMBL:ENSG00000144228", "HGNC:27934", "UMLS:C2240045", "UniProtKB:Q6IQ16", "PR:Q6IQ16", "ENSEMBL:ENSP00000280098", "ENSEMBL:ENSP00000280098.4", "UMLS:C4308294", "MESH:C000612949"], "information_content": 95.4}
{"id": "MONDO:0013428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome 2", "equivalent_identifiers": ["MONDO:0013428", "DOID:0080513", "OMIM:613800", "UMLS:C3151097", "medgen:462447"], "information_content": 100.0}
{"id": "UniProtKB:Q53EL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "programmed cell death protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q53EL6-1", "PR:Q53EL6-1", "ENSEMBL:ENSP00000280154", "ENSEMBL:ENSP00000280154.7"], "information_content": 100.0}
{"id": "NCBIGene:150", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADRA2A", "equivalent_identifiers": ["NCBIGene:150", "ENSEMBL:ENSG00000150594", "HGNC:281", "OMIM:104210", "UMLS:C1332028", "UniProtKB:P08913", "PR:P08913", "ENSEMBL:ENSP00000280155", "ENSEMBL:ENSP00000280155.2", "UMLS:C1741862", "MESH:C547768"], "information_content": 90.9}
{"id": "UniProtKB:P51674-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal membrane glycoprotein M6-a isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P51674-1", "PR:P51674-1", "ENSEMBL:ENSP00000280187", "ENSEMBL:ENSP00000280187.7", "ENSEMBL:ENSP00000377268", "ENSEMBL:ENSP00000377268.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZU2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZU2-1", "PR:Q8IZU2-1", "ENSEMBL:ENSP00000280190", "ENSEMBL:ENSP00000280190.4"], "information_content": 100.0}
{"id": "NCBIGene:132851", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA4", "equivalent_identifiers": ["NCBIGene:132851", "ENSEMBL:ENSG00000150628", "HGNC:17333", "OMIM:609879", "UMLS:C1424909", "UniProtKB:G5E9Y6", "ENSEMBL:ENSP00000422290", "ENSEMBL:ENSP00000422290.1", "UniProtKB:Q8NEY3", "PR:Q8NEY3", "ENSEMBL:ENSP00000280191", "ENSEMBL:ENSP00000280191.2", "UMLS:C1310506", "MESH:C457219"], "information_content": 100.0}
{"id": "NCBIGene:161835", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FSIP1", "equivalent_identifiers": ["NCBIGene:161835", "ENSEMBL:ENSG00000150667", "HGNC:21674", "OMIM:615795", "UMLS:C1539536", "UniProtKB:Q8NA03", "PR:Q8NA03", "ENSEMBL:ENSP00000280236", "ENSEMBL:ENSP00000280236.3", "UMLS:C2975337", "MESH:C552592"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWF9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 83 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWF9-2", "PR:Q8IWF9-2", "ENSEMBL:ENSP00000280245", "ENSEMBL:ENSP00000280245.4"], "information_content": 100.0}
{"id": "MONDO:0014165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3", "equivalent_identifiers": ["MONDO:0014165", "DOID:0080140", "OMIM:615398", "orphanet:369837", "UMLS:C1863767", "UMLS:C3809356", "MESH:C566367", "medgen:815686"], "information_content": 100.0}
{"id": "UniProtKB:O95084-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine protease 23 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95084-1", "PR:O95084-1", "ENSEMBL:ENSP00000280258", "ENSEMBL:ENSP00000280258.4"], "information_content": 100.0}
{"id": "UniProtKB:P48643-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-complex protein 1 subunit epsilon isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48643-1", "PR:P48643-1", "ENSEMBL:ENSP00000280326", "ENSEMBL:ENSP00000280326.4"], "information_content": 100.0}
{"id": "NCBIGene:1737", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DLAT", "equivalent_identifiers": ["NCBIGene:1737", "ENSEMBL:ENSG00000150768", "HGNC:2896", "OMIM:608770", "UMLS:C1414062", "UniProtKB:A0A7P0T997", "ENSEMBL:ENSP00000505567", "ENSEMBL:ENSP00000505567.1", "UniProtKB:A0A7P0TAG1", "ENSEMBL:ENSP00000506167", "ENSEMBL:ENSP00000506167.1", "UniProtKB:A0A7P0TAX2", "ENSEMBL:ENSP00000506355", "ENSEMBL:ENSP00000506355.1", "UniProtKB:A0A7P0TBE2", "ENSEMBL:ENSP00000506560", "ENSEMBL:ENSP00000506560.1", "UniProtKB:A0A7P0TBK2", "ENSEMBL:ENSP00000506707", "ENSEMBL:ENSP00000506707.1", "UniProtKB:E9PEJ4", "ENSEMBL:ENSP00000376771", "ENSEMBL:ENSP00000376771.1", "UniProtKB:H0YDD4", "ENSEMBL:ENSP00000433432", "ENSEMBL:ENSP00000433432.2", "UniProtKB:P10515", "PR:P10515", "ENSEMBL:ENSP00000280346", "ENSEMBL:ENSP00000280346.7", "ENSEMBL:ENSP00000518862", "ENSEMBL:ENSP00000518862.1", "UMLS:C1429398", "MESH:C052359", "UniProtKB:Q86YI5"], "information_content": 89.4}
{"id": "UniProtKB:Q8WWB5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PIH1 domain-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWB5-1", "PR:Q8WWB5-1", "ENSEMBL:ENSP00000280350", "ENSEMBL:ENSP00000280350.4", "ENSEMBL:ENSP00000431841", "ENSEMBL:ENSP00000431841.1", "ENSEMBL:ENSP00000503801", "ENSEMBL:ENSP00000503801.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14116-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14116-1", "PR:Q14116-1", "ENSEMBL:ENSP00000280357", "ENSEMBL:ENSP00000280357.7", "ENSEMBL:ENSP00000434161", "ENSEMBL:ENSP00000434161.1"], "information_content": 100.0}
{"id": "NCBIGene:56158", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX12", "equivalent_identifiers": ["NCBIGene:56158", "ENSEMBL:ENSG00000150783", "HGNC:11734", "OMIM:605791", "UMLS:C1420691", "UniProtKB:Q9BXU0", "PR:Q9BXU0", "ENSEMBL:ENSP00000280358", "ENSEMBL:ENSP00000280358.4", "ENSEMBL:ENSP00000436893", "ENSEMBL:ENSP00000436893.1", "UMLS:C5226228", "MESH:C000655504"], "information_content": 95.4}
{"id": "NCBIGene:5805", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTS", "equivalent_identifiers": ["NCBIGene:5805", "ENSEMBL:ENSG00000150787", "HGNC:9689", "OMIM:612719", "UMLS:C1419129", "UniProtKB:Q03393", "PR:Q03393", "ENSEMBL:ENSP00000280362", "ENSEMBL:ENSP00000280362.3", "UMLS:C5958725"], "information_content": 89.4}
{"id": "MONDO:0007979", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metachondromatosis", "equivalent_identifiers": ["MONDO:0007979", "DOID:0111512", "OMIM:156250", "orphanet:2499", "UMLS:C0410530", "MESH:C562938", "SNOMEDCT:205481009", "medgen:98377", "icd11.foundation:1342578560"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4E8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 15 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4E8-1", "PR:Q9Y4E8-1", "ENSEMBL:ENSP00000280377", "ENSEMBL:ENSP00000280377.5"], "information_content": 100.0}
{"id": "UniProtKB:Q5SZK8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FRAS1-related extracellular matrix protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SZK8-1", "PR:Q5SZK8-1", "ENSEMBL:ENSP00000280481", "ENSEMBL:ENSP00000280481.7"], "information_content": 100.0}
{"id": "MONDO:0030031", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 10", "equivalent_identifiers": ["MONDO:0030031", "DOID:0112229", "OMIM:618873", "UMLS:C5394354", "medgen:1719546"], "information_content": 100.0}
{"id": "MONDO:0001305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngostenosis", "equivalent_identifiers": ["MONDO:0001305", "DOID:11527", "UMLS:C0023075", "MESH:D007829", "MEDDRA:10023862", "MEDDRA:10023863", "MEDDRA:10041989", "NCIT:C79608", "SNOMEDCT:75547007", "medgen:7274", "ICD10:J38.6", "ICD9:478.74", "HP:0001602"], "information_content": 95.4}
{"id": "NCBIGene:51232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRIM1", "equivalent_identifiers": ["NCBIGene:51232", "ENSEMBL:ENSG00000150938", "HGNC:2359", "OMIM:606189", "UMLS:C1413711", "UniProtKB:Q9NZV1", "PR:Q9NZV1", "ENSEMBL:ENSP00000280527", "ENSEMBL:ENSP00000280527.2", "UMLS:C1142672", "MESH:C486175"], "information_content": 85.5}
{"id": "UniProtKB:O94855-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein transport protein Sec24D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94855-1", "PR:O94855-1", "ENSEMBL:ENSP00000280551", "ENSEMBL:ENSP00000280551.6"], "information_content": 100.0}
{"id": "MONDO:0012544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly-syndactyly syndrome", "equivalent_identifiers": ["MONDO:0012544", "DOID:0050689", "OMIM:610713", "orphanet:93409", "UMLS:C1853137", "MESH:C565193", "medgen:377836"], "information_content": 100.0}
{"id": "MONDO:0000136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "keratosis follicularis spinulosa decalvans", "equivalent_identifiers": ["MONDO:0000136", "DOID:0080753", "orphanet:2340", "UMLS:C0343057", "SNOMEDCT:238626006", "medgen:83355", "icd11.foundation:303213910"], "information_content": 92.8}
{"id": "NCBIGene:8562", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DENR", "equivalent_identifiers": ["NCBIGene:8562", "ENSEMBL:ENSG00000139726", "HGNC:2769", "OMIM:604550", "UMLS:C1413979", "UniProtKB:O43583", "PR:O43583", "ENSEMBL:ENSP00000280557", "ENSEMBL:ENSP00000280557.6", "UMLS:C0675739", "MESH:C112641"], "information_content": 95.4}
{"id": "NCBIGene:196383", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RILPL2", "equivalent_identifiers": ["NCBIGene:196383", "ENSEMBL:ENSG00000150977", "HGNC:28787", "OMIM:614093", "UMLS:C2239887", "UniProtKB:Q969X0", "PR:Q969X0", "ENSEMBL:ENSP00000280571", "ENSEMBL:ENSP00000280571.8"], "information_content": 92.8}
{"id": "NCBIGene:84076", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TKTL2", "equivalent_identifiers": ["NCBIGene:84076", "ENSEMBL:ENSG00000151005", "HGNC:25313", "UMLS:C1539969", "UniProtKB:A0A140VKC2", "UniProtKB:Q9H0I9", "PR:Q9H0I9", "ENSEMBL:ENSP00000280605", "ENSEMBL:ENSP00000280605.3"], "information_content": 100.0}
{"id": "NCBIGene:339105", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS53", "equivalent_identifiers": ["NCBIGene:339105", "ENSEMBL:ENSG00000151006", "HGNC:34407", "OMIM:610561", "UMLS:C1864636", "UniProtKB:Q2L4Q9", "PR:Q2L4Q9", "ENSEMBL:ENSP00000280606", "ENSEMBL:ENSP00000280606.6"], "information_content": 100.0}
{"id": "MONDO:0100352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic kinesigenic dyskinesia 1", "equivalent_identifiers": ["MONDO:0100352", "DOID:0090053", "OMIM:128200", "UMLS:C4552000", "MESH:C537180", "NCIT:C178413", "SNOMEDCT:609221008", "medgen:1636366"], "information_content": 100.0}
{"id": "MONDO:0006863", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myxosarcoma", "equivalent_identifiers": ["MONDO:0006863", "DOID:4136", "EFO:1001056", "UMLS:C0027155", "MESH:D009236", "NCIT:C3255", "SNOMEDCT:28351005", "medgen:6508"], "information_content": 100.0}
{"id": "NCBIGene:23657", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC7A11", "equivalent_identifiers": ["NCBIGene:23657", "ENSEMBL:ENSG00000151012", "HGNC:11059", "OMIM:607933", "UMLS:C1420222", "UniProtKB:Q9UPY5", "PR:Q9UPY5", "ENSEMBL:ENSP00000280612", "ENSEMBL:ENSP00000280612.5", "UMLS:C1455188", "UMLS:C1880211", "MESH:C118895"], "information_content": 100.0}
{"id": "NCBIGene:25819", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOCT", "equivalent_identifiers": ["NCBIGene:25819", "ENSEMBL:ENSG00000151014", "HGNC:14254", "OMIM:608468", "UMLS:C1422515", "UniProtKB:Q9UK39", "PR:Q9UK39", "ENSEMBL:ENSP00000280614", "ENSEMBL:ENSP00000280614.2"], "information_content": 100.0}
{"id": "NCBIGene:3742", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNA6", "equivalent_identifiers": ["NCBIGene:3742", "ENSEMBL:ENSG00000151079", "HGNC:6225", "OMIM:176257", "UMLS:C1416549", "UniProtKB:P17658", "PR:P17658", "ENSEMBL:ENSP00000280684", "ENSEMBL:ENSP00000280684.3", "UMLS:C1307010", "MESH:C064389"], "information_content": 95.4}
{"id": "UniProtKB:Q96IV0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96IV0-1", "PR:Q96IV0-1", "ENSEMBL:ENSP00000280700", "ENSEMBL:ENSP00000280700.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWU1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWU1-1", "PR:Q9NWU1-1", "ENSEMBL:ENSP00000280701", "ENSEMBL:ENSP00000280701.3"], "information_content": 100.0}
{"id": "NCBIGene:160287", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LDHAL6A", "equivalent_identifiers": ["NCBIGene:160287", "ENSEMBL:ENSG00000166800", "HGNC:28335", "OMIM:618928", "UMLS:C1537556", "UniProtKB:Q6ZMR3", "PR:Q6ZMR3", "ENSEMBL:ENSP00000280706", "ENSEMBL:ENSP00000280706.2", "ENSEMBL:ENSP00000379516", "ENSEMBL:ENSP00000379516.3"], "information_content": 95.4}
{"id": "DOID:0060513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fish allergy", "equivalent_identifiers": ["DOID:0060513"]}
{"id": "NCBIGene:144110", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM86A", "equivalent_identifiers": ["NCBIGene:144110", "ENSEMBL:ENSG00000151117", "HGNC:26890", "UMLS:C1823346", "UniProtKB:Q8N2M4", "PR:Q8N2M4", "ENSEMBL:ENSP00000280734", "ENSEMBL:ENSP00000280734.2"], "information_content": 100.0}
{"id": "MONDO:0008764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 1", "equivalent_identifiers": ["MONDO:0008764", "DOID:0110078", "OMIM:204000", "UMLS:C2931258", "MESH:C536600", "medgen:419026"], "information_content": 100.0}
{"id": "UniProtKB:A6QL63-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and BTB/POZ domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6QL63-1", "PR:A6QL63-1", "ENSEMBL:ENSP00000280758", "ENSEMBL:ENSP00000280758.5"], "information_content": 100.0}
{"id": "UniProtKB:Q12955-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12955-3", "PR:Q12955-3", "ENSEMBL:ENSP00000280772", "ENSEMBL:ENSP00000280772.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHP8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative phospholipase B-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHP8-1", "PR:Q8NHP8-1", "ENSEMBL:ENSP00000280800", "ENSEMBL:ENSP00000280800.3"], "information_content": 100.0}
{"id": "NCBIGene:114134", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC2A13", "equivalent_identifiers": ["NCBIGene:114134", "ENSEMBL:ENSG00000151229", "HGNC:15956", "OMIM:611036", "UMLS:C1423860", "UniProtKB:Q96QE2", "PR:Q96QE2", "ENSEMBL:ENSP00000280871", "ENSEMBL:ENSP00000280871.4", "UMLS:C1432300", "MESH:C437315"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y2E4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disco-interacting protein 2 homolog C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2E4-1", "PR:Q9Y2E4-1", "ENSEMBL:ENSP00000280886", "ENSEMBL:ENSP00000280886.6"], "information_content": 100.0}
{"id": "UniProtKB:Q02487-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "desmocollin-2 isoform h2A (human)", "equivalent_identifiers": ["UniProtKB:Q02487-1", "PR:Q02487-1", "ENSEMBL:ENSP00000280904", "ENSEMBL:ENSP00000280904.6"], "information_content": 100.0}
{"id": "UniProtKB:Q13023-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-kinase anchor protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13023-1", "PR:Q13023-1", "ENSEMBL:ENSP00000280979", "ENSEMBL:ENSP00000280979.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N128-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM177A1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N128-2", "PR:Q8N128-2", "ENSEMBL:ENSP00000280987", "ENSEMBL:ENSP00000280987.4"], "information_content": 100.0}
{"id": "NCBIGene:7069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THRSP", "equivalent_identifiers": ["NCBIGene:7069", "ENSEMBL:ENSG00000151365", "HGNC:11800", "OMIM:601926", "UMLS:C1420727", "UniProtKB:Q92748", "PR:Q92748", "ENSEMBL:ENSP00000281030", "ENSEMBL:ENSP00000281030.2", "UMLS:C1563374", "MESH:C051065"], "information_content": 100.0}
{"id": "UniProtKB:O95298-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:O95298-1", "PR:O95298-1", "ENSEMBL:ENSP00000281031", "ENSEMBL:ENSP00000281031.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96I59-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "asparaginyl-tRNA synthetase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96I59-1", "PR:Q96I59-1", "ENSEMBL:ENSP00000281038", "ENSEMBL:ENSP00000281038.5"], "information_content": 100.0}
{"id": "NCBIGene:4613", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYCN", "equivalent_identifiers": ["NCBIGene:4613", "ENSEMBL:ENSG00000134323", "HGNC:7559", "OMIM:164840", "UMLS:C0812287", "UniProtKB:A0A1W2PPD9", "ENSEMBL:ENSP00000491476", "ENSEMBL:ENSP00000491476.1", "UniProtKB:P04198", "PR:P04198", "ENSEMBL:ENSP00000281043", "ENSEMBL:ENSP00000281043.3", "UMLS:C1137610", "MESH:C459801", "UniProtKB:Q9H224"], "information_content": 100.0}
{"id": "NCBIGene:343930", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MSGN1", "equivalent_identifiers": ["NCBIGene:343930", "ENSEMBL:ENSG00000151379", "HGNC:14907", "OMIM:612209", "UMLS:C1826308", "UniProtKB:A6NI15", "PR:A6NI15", "ENSEMBL:ENSP00000281047", "ENSEMBL:ENSP00000281047.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TB37-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "iron-sulfur cluster transfer protein NUBPL isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TB37-1", "PR:Q8TB37-1", "ENSEMBL:ENSP00000281081", "ENSEMBL:ENSP00000281081.7"], "information_content": 100.0}
{"id": "UniProtKB:P16591-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase Fer isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P16591-1", "PR:P16591-1", "ENSEMBL:ENSP00000281092", "ENSEMBL:ENSP00000281092.4"], "information_content": 100.0}
{"id": "NCBIGene:8872", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC123", "equivalent_identifiers": ["NCBIGene:8872", "ENSEMBL:ENSG00000151465", "HGNC:16827", "OMIM:617708", "UMLS:C1824684", "UniProtKB:O75794", "PR:O75794", "ENSEMBL:ENSP00000281141", "ENSEMBL:ENSP00000281141.4", "UMLS:C1313658", "MESH:C098828"], "information_content": 88.2}
{"id": "MONDO:0010258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MEHMO syndrome", "equivalent_identifiers": ["MONDO:0010258", "DOID:0060801", "OMIM:300148", "orphanet:85282", "UMLS:C1846278", "MESH:C537451", "SNOMEDCT:722037004", "medgen:375855", "icd11.foundation:500681653"], "information_content": 100.0}
{"id": "UniProtKB:Q96NL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium channel and clathrin linker 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NL6-1", "PR:Q96NL6-1", "ENSEMBL:ENSP00000281142", "ENSEMBL:ENSP00000281142.5"], "information_content": 100.0}
{"id": "NCBIGene:83447", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A31", "equivalent_identifiers": ["NCBIGene:83447", "ENSEMBL:ENSG00000151475", "HGNC:25319", "OMIM:610796", "UMLS:C1539785", "UniProtKB:Q9H0C2", "PR:Q9H0C2", "ENSEMBL:ENSP00000281154", "ENSEMBL:ENSP00000281154.4", "UMLS:C1871968", "MESH:C518774"], "information_content": 100.0}
{"id": "NCBIGene:202559", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KHDRBS2", "equivalent_identifiers": ["NCBIGene:202559", "ENSEMBL:ENSG00000112232", "HGNC:18114", "OMIM:610487", "UMLS:C1425320", "UniProtKB:Q5VWX1", "PR:Q5VWX1", "ENSEMBL:ENSP00000281156", "ENSEMBL:ENSP00000281156.3", "ENSEMBL:ENSP00000520654", "ENSEMBL:ENSP00000520654.1", "UMLS:C1436591", "MESH:C485572"], "information_content": 90.9}
{"id": "UniProtKB:Q16827-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase O isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16827-1", "PR:Q16827-1", "ENSEMBL:ENSP00000281171", "ENSEMBL:ENSP00000281171.4", "ENSEMBL:ENSP00000501352", "ENSEMBL:ENSP00000501352.1", "ENSEMBL:ENSP00000501538", "ENSEMBL:ENSP00000501538.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKU7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "isobutyryl-CoA dehydrogenase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKU7-1", "PR:Q9UKU7-1", "ENSEMBL:ENSP00000281182", "ENSEMBL:ENSP00000281182.5"], "information_content": 100.0}
{"id": "MONDO:0009281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glutaryl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0009281", "DOID:0111254", "OMIM:231670", "orphanet:25", "UMLS:C0268595", "MESH:C536833", "MEDDRA:10088192", "MEDDRA:10088195", "NCIT:C99101", "SNOMEDCT:360416003", "SNOMEDCT:76175005", "medgen:124337"], "information_content": 100.0}
{"id": "NCBIGene:112936", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VPS26B", "equivalent_identifiers": ["NCBIGene:112936", "ENSEMBL:ENSG00000151502", "HGNC:28119", "OMIM:610027", "UMLS:C1823639", "UniProtKB:Q4G0F5", "PR:Q4G0F5", "ENSEMBL:ENSP00000281187", "ENSEMBL:ENSP00000281187.5", "ENSEMBL:ENSP00000434162", "ENSEMBL:ENSP00000434162.2"], "information_content": 95.4}
{"id": "UniProtKB:P09417-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dihydropteridine reductase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P09417-1", "PR:P09417-1", "ENSEMBL:ENSP00000281243", "ENSEMBL:ENSP00000281243.5"], "information_content": 100.0}
{"id": "MONDO:0011841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "biotin-responsive basal ganglia disease", "equivalent_identifiers": ["MONDO:0011841", "DOID:0050659", "OMIM:607483", "orphanet:199348", "orphanet:65284", "UMLS:C1843807", "UMLS:C5848322", "MESH:C537658", "SNOMEDCT:703522009", "SNOMEDCT:723557004", "medgen:375289", "icd11.foundation:1776831202"], "information_content": 100.0}
{"id": "UniProtKB:Q0VF96-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cingulin-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q0VF96-1", "PR:Q0VF96-1", "ENSEMBL:ENSP00000281282", "ENSEMBL:ENSP00000281282.5"], "information_content": 100.0}
{"id": "UniProtKB:Q12837-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POU domain, class 4, transcription factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12837-1", "PR:Q12837-1", "ENSEMBL:ENSP00000281321", "ENSEMBL:ENSP00000281321.3"], "information_content": 100.0}
{"id": "UniProtKB:O43150-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43150-1", "PR:O43150-1", "ENSEMBL:ENSP00000281419", "ENSEMBL:ENSP00000281419.3"], "information_content": 100.0}
{"id": "NCBIGene:8538", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BARX2", "equivalent_identifiers": ["NCBIGene:8538", "ENSEMBL:ENSG00000043039", "HGNC:956", "OMIM:604823", "UMLS:C1412738", "UniProtKB:Q9UMQ3", "PR:Q9UMQ3", "ENSEMBL:ENSP00000281437", "ENSEMBL:ENSP00000281437.4", "UMLS:C1452544", "MESH:C491320"], "information_content": 100.0}
{"id": "NCBIGene:120224", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM45B", "equivalent_identifiers": ["NCBIGene:120224", "ENSEMBL:ENSG00000151715", "HGNC:25194", "OMIM:621075", "UMLS:C1540019", "UniProtKB:Q96B21", "PR:Q96B21", "ENSEMBL:ENSP00000281441", "ENSEMBL:ENSP00000281441.3", "ENSEMBL:ENSP00000436293", "ENSEMBL:ENSP00000436293.1", "UMLS:C4505590", "UMLS:C4724737", "MESH:C000614275"], "information_content": 100.0}
{"id": "UniProtKB:Q71F23-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centromere protein U isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q71F23-1", "PR:Q71F23-1", "ENSEMBL:ENSP00000281453", "ENSEMBL:ENSP00000281453.5"], "information_content": 100.0}
{"id": "NCBIGene:291", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A4", "equivalent_identifiers": ["NCBIGene:291", "ENSEMBL:ENSG00000151729", "HGNC:10990", "OMIM:103220", "UMLS:C1335833", "UniProtKB:A0A0S2Z3H3", "UniProtKB:P12235", "PR:P12235", "ENSEMBL:ENSP00000281456", "ENSEMBL:ENSP00000281456.5", "UMLS:C1442881", "MESH:C580832"], "information_content": 92.8}
{"id": "MONDO:0060583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease", "equivalent_identifiers": ["MONDO:0060583", "DOID:0112004", "OMIM:617718", "UMLS:C4540232", "medgen:1618052"], "information_content": 100.0}
{"id": "UniProtKB:Q8IY45-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein AMN1 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY45-1", "PR:Q8IY45-1", "ENSEMBL:ENSP00000281471", "ENSEMBL:ENSP00000281471.6"], "information_content": 100.0}
{"id": "UniProtKB:A2RRP1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NBAS subunit of NRZ tethering complex isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2RRP1-1", "PR:A2RRP1-1", "ENSEMBL:ENSP00000281513", "ENSEMBL:ENSP00000281513.5"], "information_content": 100.0}
{"id": "NCBIGene:79750", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF385D", "equivalent_identifiers": ["NCBIGene:79750", "ENSEMBL:ENSG00000151789", "HGNC:26191", "OMIM:621200", "UMLS:C1538225", "UniProtKB:A0A2R8YG37", "ENSEMBL:ENSP00000495609", "ENSEMBL:ENSP00000495609.3", "UMLS:C3849842", "MESH:C000588994", "UniProtKB:A0A994J524", "ENSEMBL:ENSP00000516219", "ENSEMBL:ENSP00000516219.1", "UniProtKB:A0A994J5P6", "ENSEMBL:ENSP00000516216", "ENSEMBL:ENSP00000516216.1", "UniProtKB:Q9H6B1", "PR:Q9H6B1", "ENSEMBL:ENSP00000281523", "ENSEMBL:ENSP00000281523.2"], "information_content": 100.0}
{"id": "NCBIGene:60558", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GUF1", "equivalent_identifiers": ["NCBIGene:60558", "ENSEMBL:ENSG00000151806", "HGNC:25799", "OMIM:617064", "UMLS:C1825432", "UniProtKB:Q8N442", "PR:Q8N442", "ENSEMBL:ENSP00000281543", "ENSEMBL:ENSP00000281543.5", "UMLS:C4508397", "MESH:C000621464"], "information_content": 100.0}
{"id": "NCBIGene:5042", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PABPC3", "equivalent_identifiers": ["NCBIGene:5042", "ENSEMBL:ENSG00000151846", "HGNC:8556", "OMIM:604680", "UMLS:C1418229", "UniProtKB:Q5VX58", "UMLS:C1171844", "MESH:C467335", "UniProtKB:Q9H361", "PR:Q9H361", "ENSEMBL:ENSP00000281589", "ENSEMBL:ENSP00000281589.3"], "information_content": 92.8}
{"id": "MONDO:0004495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myotonic cataract", "equivalent_identifiers": ["MONDO:0004495", "DOID:82", "UMLS:C0027128", "MEDDRA:10028657", "NCIT:C34833", "SNOMEDCT:64741003", "medgen:44565", "icd11.foundation:1723425593", "ICD9:366.43"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKT5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKT5-1", "PR:Q9UKT5-1", "ENSEMBL:ENSP00000281623", "ENSEMBL:ENSP00000281623.3"], "information_content": 95.4}
{"id": "MONDO:0030522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 64", "equivalent_identifiers": ["MONDO:0030522", "DOID:0112353", "OMIM:619696", "UMLS:C5562062", "medgen:1794272"], "information_content": 100.0}
{"id": "UniProtKB:Q8N3A8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein mono-ADP-ribosyltransferase PARP8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3A8-1", "PR:Q8N3A8-1", "ENSEMBL:ENSP00000281631", "ENSEMBL:ENSP00000281631.4", "ENSEMBL:ENSP00000422217", "ENSEMBL:ENSP00000422217.2"], "information_content": 100.0}
{"id": "MONDO:0014377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 24", "equivalent_identifiers": ["MONDO:0014377", "DOID:0080429", "OMIM:615871", "UMLS:C4014531", "medgen:862968"], "information_content": 100.0}
{"id": "UniProtKB:O15381-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear valosin-containing protein-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15381-1", "PR:O15381-1", "ENSEMBL:ENSP00000281701", "ENSEMBL:ENSP00000281701.6"], "information_content": 100.0}
{"id": "MONDO:0012927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 1q41-q42 deletion syndrome", "equivalent_identifiers": ["MONDO:0012927", "DOID:0060412", "OMIM:612530", "orphanet:250999", "UMLS:C2675857", "UMLS:C4274528", "MESH:C567278", "SNOMEDCT:716515000", "medgen:382704"], "information_content": 100.0}
{"id": "UniProtKB:Q8TBY0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable RNA-binding protein 46 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBY0-1", "PR:Q8TBY0-1", "ENSEMBL:ENSP00000281722", "ENSEMBL:ENSP00000281722.3"], "information_content": 100.0}
{"id": "MONDO:0010905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 1", "equivalent_identifiers": ["MONDO:0010905", "DOID:0111009", "OMIM:600624", "UMLS:C1833564", "MESH:C563469", "medgen:371596"], "information_content": 100.0}
{"id": "UniProtKB:A0AUZ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KAT8 regulatory NSL complex subunit 1-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A0AUZ9-1", "PR:A0AUZ9-1", "ENSEMBL:ENSP00000281772", "ENSEMBL:ENSP00000281772.8"], "information_content": 100.0}
{"id": "MONDO:0006539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse lipomatosis", "equivalent_identifiers": ["MONDO:0006539", "DOID:3923", "EFO:1000687", "UMLS:C1333298", "NCIT:C6504", "medgen:272546"], "information_content": 100.0}
{"id": "NCBIGene:84539", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MCHR2", "equivalent_identifiers": ["NCBIGene:84539", "ENSEMBL:ENSG00000152034", "HGNC:20867", "OMIM:606111", "UMLS:C1825953", "UniProtKB:Q969V1", "PR:Q969V1", "ENSEMBL:ENSP00000281806", "ENSEMBL:ENSP00000281806.2", "ENSEMBL:ENSP00000358214", "ENSEMBL:ENSP00000358214.1", "UMLS:C0967952", "MESH:C431280"], "information_content": 100.0}
{"id": "MONDO:0012220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Griscelli syndrome type 3", "equivalent_identifiers": ["MONDO:0012220", "DOID:0060834", "OMIM:609227", "orphanet:79478", "UMLS:C1836573", "MESH:C537303", "SNOMEDCT:1254947002", "medgen:373124", "icd11.foundation:1959052636"], "information_content": 100.0}
{"id": "UniProtKB:P54764-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin type-A receptor 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P54764-1", "PR:P54764-1", "ENSEMBL:ENSP00000281821", "ENSEMBL:ENSP00000281821.2", "ENSEMBL:ENSP00000386829", "ENSEMBL:ENSP00000386829.1"], "information_content": 100.0}
{"id": "MONDO:0014841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichothiodystrophy 6, nonphotosensitive", "equivalent_identifiers": ["MONDO:0014841", "DOID:0111872", "OMIM:616943", "UMLS:C4310785", "medgen:934752"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSD9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phenylalanine--tRNA ligase beta subunit isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSD9-1", "PR:Q9NSD9-1", "ENSEMBL:ENSP00000281828", "ENSEMBL:ENSP00000281828.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWG9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium voltage-gated channel subfamily E member 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWG9-3", "PR:Q8WWG9-3", "ENSEMBL:ENSP00000281830", "ENSEMBL:ENSP00000281830.5"], "information_content": 100.0}
{"id": "UniProtKB:P23510-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor ligand superfamily member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P23510-1", "PR:P23510-1", "ENSEMBL:ENSP00000281834", "ENSEMBL:ENSP00000281834.3", "ENSEMBL:ENSP00000519699", "ENSEMBL:ENSP00000519699.1", "ENSEMBL:ENSP00000519727", "ENSEMBL:ENSP00000519727.1", "ENSEMBL:ENSP00000519728", "ENSEMBL:ENSP00000519728.1"], "information_content": 100.0}
{"id": "NCBIGene:653275", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFC1B", "equivalent_identifiers": ["NCBIGene:653275", "ENSEMBL:ENSG00000152093", "HGNC:33983", "UMLS:C2239297", "UniProtKB:P0CG36", "PR:P0CG36", "ENSEMBL:ENSP00000281882", "ENSEMBL:ENSP00000281882.3"], "information_content": 100.0}
{"id": "NCBIGene:4249", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MGAT5", "equivalent_identifiers": ["NCBIGene:4249", "ENSEMBL:ENSG00000152127", "HGNC:7049", "OMIM:601774", "UMLS:C1417138", "UniProtKB:Q09328", "PR:Q09328", "ENSEMBL:ENSP00000281923", "ENSEMBL:ENSP00000281923.2", "ENSEMBL:ENSP00000386377", "ENSEMBL:ENSP00000386377.1"], "information_content": 90.9}
{"id": "UniProtKB:Q8TC26-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 163 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TC26-1", "PR:Q8TC26-1", "ENSEMBL:ENSP00000281924", "ENSEMBL:ENSP00000281924.6"], "information_content": 100.0}
{"id": "NCBIGene:23389", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MED13L", "equivalent_identifiers": ["NCBIGene:23389", "ENSEMBL:ENSG00000123066", "HGNC:22962", "OMIM:608771", "UMLS:C1427815", "UniProtKB:Q71F56", "PR:Q71F56", "ENSEMBL:ENSP00000281928", "ENSEMBL:ENSP00000281928.3", "UMLS:C1433229", "MESH:C480067"], "information_content": 95.4}
{"id": "MONDO:0000734", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ohdo syndrome", "equivalent_identifiers": ["MONDO:0000734", "DOID:0060289"], "information_content": 90.9}
{"id": "NCBIGene:26353", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPB8", "equivalent_identifiers": ["NCBIGene:26353", "ENSEMBL:ENSG00000152137", "HGNC:30171", "OMIM:608014", "UMLS:C1428937", "UniProtKB:Q9UJY1", "PR:Q9UJY1", "ENSEMBL:ENSP00000281938", "ENSEMBL:ENSP00000281938.3", "UMLS:C1439179", "UMLS:C2987147", "MESH:C413214"], "information_content": 89.4}
{"id": "NCBIGene:79833", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GEMIN6", "equivalent_identifiers": ["NCBIGene:79833", "ENSEMBL:ENSG00000152147", "HGNC:20044", "OMIM:607006", "UMLS:C1426634", "UniProtKB:Q8WXD5", "PR:Q8WXD5", "ENSEMBL:ENSP00000281950", "ENSEMBL:ENSP00000281950.2", "UMLS:C1432449", "MESH:C450836"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBL3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 178A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBL3-1", "PR:Q8NBL3-1", "ENSEMBL:ENSP00000281961", "ENSEMBL:ENSP00000281961.2"], "information_content": 100.0}
{"id": "NCBIGene:79596", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OBI1", "equivalent_identifiers": ["NCBIGene:79596", "ENSEMBL:ENSG00000152193", "HGNC:20308", "OMIM:615906", "UMLS:C1426846", "UniProtKB:Q5W0B1", "PR:Q5W0B1", "ENSEMBL:ENSP00000282003", "ENSEMBL:ENSP00000282003.6", "UMLS:C5197317", "MESH:C000631924"], "information_content": 89.4}
{"id": "NCBIGene:57105", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYSLTR2", "equivalent_identifiers": ["NCBIGene:57105", "ENSEMBL:ENSG00000152207", "HGNC:18274", "OMIM:605666", "UMLS:C1425412", "UniProtKB:A4ZKH2", "UniProtKB:Q5KU17", "UniProtKB:Q9NS75", "PR:Q9NS75", "ENSEMBL:ENSP00000282018", "ENSEMBL:ENSP00000282018.3", "ENSEMBL:ENSP00000477930", "ENSEMBL:ENSP00000477930.1", "ENSEMBL:ENSP00000508181", "ENSEMBL:ENSP00000508181.1", "UMLS:C1432903"], "information_content": 100.0}
{"id": "MONDO:0008834", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asthma, nasal polyps, and aspirin intolerance", "equivalent_identifiers": ["MONDO:0008834", "DOID:0111579", "OMIM:208550", "UMLS:C1858067", "UMLS:C1859648", "MESH:C565739", "MESH:C565935", "medgen:347198"], "information_content": 100.0}
{"id": "UniProtKB:O43424-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor ionotropic, delta-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43424-1", "PR:O43424-1", "ENSEMBL:ENSP00000282020", "ENSEMBL:ENSP00000282020.4"], "information_content": 100.0}
{"id": "NCBIGene:115761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARL11", "equivalent_identifiers": ["NCBIGene:115761", "ENSEMBL:ENSG00000152213", "HGNC:24046", "OMIM:609351", "UMLS:C1428339", "UniProtKB:Q969Q4", "PR:Q969Q4", "ENSEMBL:ENSP00000282026", "ENSEMBL:ENSP00000282026.1", "UMLS:C1568379", "MESH:C500039"], "information_content": 100.0}
{"id": "NCBIGene:120534", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARL14EP", "equivalent_identifiers": ["NCBIGene:120534", "ENSEMBL:ENSG00000152219", "HGNC:26798", "OMIM:612295", "UMLS:C1824313", "UniProtKB:Q8N8R7", "PR:Q8N8R7", "ENSEMBL:ENSP00000282032", "ENSEMBL:ENSP00000282032.3", "ENSEMBL:ENSP00000432224", "ENSEMBL:ENSP00000432224.2", "UMLS:C5226266", "MESH:C000656185"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCE0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ectopic P granules protein 5 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCE0-1", "PR:Q9HCE0-1", "ENSEMBL:ENSP00000282041", "ENSEMBL:ENSP00000282041.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96CS2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HAUS augmin-like complex subunit 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CS2-1", "PR:Q96CS2-1", "ENSEMBL:ENSP00000282058", "ENSEMBL:ENSP00000282058.5"], "information_content": 100.0}
{"id": "NCBIGene:57405", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPC25", "equivalent_identifiers": ["NCBIGene:57405", "ENSEMBL:ENSG00000152253", "HGNC:24031", "OMIM:609395", "UMLS:C1539815", "UniProtKB:Q9HBM1", "PR:Q9HBM1", "ENSEMBL:ENSP00000282074", "ENSEMBL:ENSP00000282074.2", "ENSEMBL:ENSP00000481354", "ENSEMBL:ENSP00000481354.1", "ENSEMBL:ENSP00000483050", "ENSEMBL:ENSP00000483050.1", "UMLS:C1450952", "MESH:C484694"], "information_content": 100.0}
{"id": "UniProtKB:Q13370-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13370-1", "PR:Q13370-1", "ENSEMBL:ENSP00000282096", "ENSEMBL:ENSP00000282096.4"], "information_content": 100.0}
{"id": "NCBIGene:83439", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCF7L1", "equivalent_identifiers": ["NCBIGene:83439", "ENSEMBL:ENSG00000152284", "HGNC:11640", "OMIM:604652", "UMLS:C1420643", "UniProtKB:Q9HCS4", "PR:Q9HCS4", "ENSEMBL:ENSP00000282111", "ENSEMBL:ENSP00000282111.3", "ENSEMBL:ENSP00000517899", "ENSEMBL:ENSP00000517899.1", "UMLS:C1570012", "MESH:C544912"], "information_content": 95.4}
{"id": "NCBIGene:1420", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRYGC", "equivalent_identifiers": ["NCBIGene:1420", "ENSEMBL:ENSG00000163254", "HGNC:2410", "OMIM:123680", "UMLS:C1413735", "UniProtKB:A0A0X8GLL6", "UniProtKB:P07315", "PR:P07315", "ENSEMBL:ENSP00000282141", "ENSEMBL:ENSP00000282141.3", "ENSEMBL:ENSP00000496418", "ENSEMBL:ENSP00000496418.1"], "information_content": 95.4}
{"id": "NCBIGene:56659", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNK13", "equivalent_identifiers": ["NCBIGene:56659", "ENSEMBL:ENSG00000152315", "HGNC:6275", "OMIM:607367", "UMLS:C1416594", "UniProtKB:Q9HB14", "PR:Q9HB14", "ENSEMBL:ENSP00000282146", "ENSEMBL:ENSP00000282146.4", "UMLS:C1432840", "MESH:C486603"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0Y0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-like-conjugating enzyme ATG10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0Y0-1", "PR:Q9H0Y0-1", "ENSEMBL:ENSP00000282185", "ENSEMBL:ENSP00000282185.3", "ENSEMBL:ENSP00000404938", "ENSEMBL:ENSP00000404938.3"], "information_content": 100.0}
{"id": "NCBIGene:167555", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM151B", "equivalent_identifiers": ["NCBIGene:167555", "ENSEMBL:ENSG00000152380", "HGNC:33716", "UMLS:C2239442", "UniProtKB:Q6UXP7", "PR:Q6UXP7", "ENSEMBL:ENSP00000282226", "ENSEMBL:ENSP00000282226.4"], "information_content": 100.0}
{"id": "UniProtKB:P33402-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanylate cyclase soluble subunit alpha-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P33402-2", "PR:P33402-2", "ENSEMBL:ENSP00000282249", "ENSEMBL:ENSP00000282249.2"], "information_content": 100.0}
{"id": "NCBIGene:92935", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MARS2", "equivalent_identifiers": ["NCBIGene:92935", "ENSEMBL:ENSG00000247626", "HGNC:25133", "OMIM:609728", "UMLS:C1537666", "UniProtKB:Q96GW9", "PR:Q96GW9", "ENSEMBL:ENSP00000282276", "ENSEMBL:ENSP00000282276.6"], "information_content": 92.8}
{"id": "MONDO:0014636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 25", "equivalent_identifiers": ["MONDO:0014636", "DOID:0111468", "OMIM:616430", "orphanet:447954", "UMLS:C5567742", "SNOMEDCT:1173035001", "medgen:1799165"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBB4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and SCAN domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBB4-1", "PR:Q8NBB4-1", "ENSEMBL:ENSP00000282326", "ENSEMBL:ENSP00000282326.1"], "information_content": 100.0}
{"id": "NCBIGene:219333", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP12", "equivalent_identifiers": ["NCBIGene:219333", "ENSEMBL:ENSG00000152484", "HGNC:20485", "OMIM:603091", "UMLS:C1426968", "UniProtKB:O75317", "PR:O75317", "ENSEMBL:ENSP00000282344", "ENSEMBL:ENSP00000282344.6", "UMLS:C1436430", "MESH:C486402"], "information_content": 95.4}
{"id": "NCBIGene:814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAMK4", "equivalent_identifiers": ["NCBIGene:814", "ENSEMBL:ENSG00000152495", "HGNC:1464", "OMIM:114080", "UMLS:C1413103", "UniProtKB:Q16566", "PR:Q16566", "ENSEMBL:ENSP00000282356", "ENSEMBL:ENSP00000282356.4", "ENSEMBL:ENSP00000422634", "ENSEMBL:ENSP00000422634.1", "UMLS:C1869458", "MESH:C517683"], "information_content": 89.4}
{"id": "UniProtKB:Q9NQ86-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM36 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ86-1", "PR:Q9NQ86-1", "ENSEMBL:ENSP00000282369", "ENSEMBL:ENSP00000282369.3"], "information_content": 100.0}
{"id": "NCBIGene:678", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFP36L2", "equivalent_identifiers": ["NCBIGene:678", "ENSEMBL:ENSG00000152518", "HGNC:1108", "OMIM:612053", "UMLS:C1412825", "UniProtKB:P47974", "PR:P47974", "ENSEMBL:ENSP00000282388", "ENSEMBL:ENSP00000282388.3", "UMLS:C0293724", "MESH:C091750"], "information_content": 84.8}
{"id": "UniProtKB:P17948-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vascular endothelial growth factor receptor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P17948-1", "PR:P17948-1", "ENSEMBL:ENSP00000282397", "ENSEMBL:ENSP00000282397.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVE3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family H member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVE3-1", "PR:Q8IVE3-1", "ENSEMBL:ENSP00000282406", "ENSEMBL:ENSP00000282406.4"], "information_content": 100.0}
{"id": "UniProtKB:O75688-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1B isoform hBeta-1 (human)", "equivalent_identifiers": ["UniProtKB:O75688-1", "PR:O75688-1", "ENSEMBL:ENSP00000282412", "ENSEMBL:ENSP00000282412.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6WRI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "immunoglobulin superfamily member 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6WRI0-1", "PR:Q6WRI0-1", "ENSEMBL:ENSP00000282466", "ENSEMBL:ENSP00000282466.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NR56-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "muscleblind-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR56-1", "PR:Q9NR56-1", "ENSEMBL:ENSP00000282486", "ENSEMBL:ENSP00000282486.6", "ENSEMBL:ENSP00000418108", "ENSEMBL:ENSP00000418108.1"], "information_content": 100.0}
{"id": "UniProtKB:P48058-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48058-1", "PR:P48058-1", "ENSEMBL:ENSP00000282499", "ENSEMBL:ENSP00000282499.5", "ENSEMBL:ENSP00000435775", "ENSEMBL:ENSP00000435775.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3SY77-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 3A2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3SY77-1", "PR:Q3SY77-1", "ENSEMBL:ENSP00000282507", "ENSEMBL:ENSP00000282507.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6KC79-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nipped-B-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6KC79-1", "PR:Q6KC79-1", "ENSEMBL:ENSP00000282516", "ENSEMBL:ENSP00000282516.8"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZQY3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acidic amino acid decarboxylase GADL1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZQY3-1", "PR:Q6ZQY3-1", "ENSEMBL:ENSP00000282538", "ENSEMBL:ENSP00000282538.5"], "information_content": 100.0}
{"id": "NCBIGene:23171", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPD1L", "equivalent_identifiers": ["NCBIGene:23171", "ENSEMBL:ENSG00000152642", "HGNC:28956", "OMIM:611778", "UMLS:C1539599", "UniProtKB:Q8N335", "PR:Q8N335", "ENSEMBL:ENSP00000282541", "ENSEMBL:ENSP00000282541.6", "UMLS:C2002514", "MESH:C525035"], "information_content": 92.8}
{"id": "NCBIGene:2697", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJA1", "equivalent_identifiers": ["NCBIGene:2697", "ENSEMBL:ENSG00000152661", "HGNC:4274", "OMIM:121014", "UMLS:C1415068", "UniProtKB:P17302", "PR:P17302", "ENSEMBL:ENSP00000282561", "ENSEMBL:ENSP00000282561.3", "ENSEMBL:ENSP00000497283", "ENSEMBL:ENSP00000497283.1", "ENSEMBL:ENSP00000497367", "ENSEMBL:ENSP00000497367.1", "ENSEMBL:ENSP00000497565", "ENSEMBL:ENSP00000497565.1", "UMLS:C1568716", "MESH:C500216"], "information_content": 88.2}
{"id": "MONDO:0007866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bart-Pumphrey syndrome", "equivalent_identifiers": ["MONDO:0007866", "DOID:0050658", "OMIM:149200", "orphanet:2698", "UMLS:C0266004", "MESH:C537210", "SNOMEDCT:1271009", "medgen:82727"], "information_content": 100.0}
{"id": "MONDO:0018677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heterotaxia", "equivalent_identifiers": ["MONDO:0018677", "DOID:0050545", "OMIM.PS:306955", "orphanet:157769", "orphanet:450", "EFO:0009081", "UMLS:C0266642", "UMLS:C3178805", "MESH:D059446", "MEDDRA:10059119", "MEDDRA:10067265", "MEDDRA:10083670", "NCIT:C117273", "NCIT:C87083", "SNOMEDCT:14821001", "medgen:465273", "icd11.foundation:780273165", "HP:0030853"], "information_content": 78.8}
{"id": "NCBIGene:64395", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GMCL1", "equivalent_identifiers": ["NCBIGene:64395", "ENSEMBL:ENSG00000087338", "HGNC:23843", "OMIM:618627", "UMLS:C1825378", "UniProtKB:Q53SE7", "UMLS:C1570166", "MESH:C501308", "UniProtKB:Q96IK5", "PR:Q96IK5", "ENSEMBL:ENSP00000282570", "ENSEMBL:ENSP00000282570.3"], "information_content": 100.0}
{"id": "DOID:0040032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carbapenem allergy", "equivalent_identifiers": ["DOID:0040032", "UMLS:C0571443", "SNOMEDCT:294531005"]}
{"id": "UniProtKB:P22674-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-O isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P22674-1", "PR:P22674-1", "ENSEMBL:ENSP00000282572", "ENSEMBL:ENSP00000282572.4"], "information_content": 100.0}
{"id": "NCBIGene:3672", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITGA1", "equivalent_identifiers": ["NCBIGene:3672", "ENSEMBL:ENSG00000213949", "HGNC:6134", "OMIM:192968", "UMLS:C1442490", "UniProtKB:P56199", "PR:P56199", "ENSEMBL:ENSP00000282588", "ENSEMBL:ENSP00000282588.5", "UMLS:C5889953"], "information_content": 89.4}
{"id": "NCBIGene:347732", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CATSPER3", "equivalent_identifiers": ["NCBIGene:347732", "ENSEMBL:ENSG00000152705", "HGNC:20819", "OMIM:609120", "UMLS:C1427149", "UniProtKB:Q86XQ3", "PR:Q86XQ3", "ENSEMBL:ENSP00000282611", "ENSEMBL:ENSP00000282611.6", "UMLS:C2002243", "MESH:C522690"], "information_content": 95.4}
{"id": "UniProtKB:Q641Q2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WASH complex subunit 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q641Q2-1", "PR:Q641Q2-1", "ENSEMBL:ENSP00000282633", "ENSEMBL:ENSP00000282633.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8N7M0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein light chain Tctex-type 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N7M0-1", "PR:Q8N7M0-1", "ENSEMBL:ENSP00000282670", "ENSEMBL:ENSP00000282670.2"], "information_content": 100.0}
{"id": "NCBIGene:651", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BMP3", "equivalent_identifiers": ["NCBIGene:651", "ENSEMBL:ENSG00000152785", "HGNC:1070", "OMIM:112263", "UMLS:C1332425", "UniProtKB:P12645", "PR:P12645", "ENSEMBL:ENSP00000282701", "ENSEMBL:ENSP00000282701.2", "UMLS:C2003472", "MESH:C525757"], "information_content": 100.0}
{"id": "NCBIGene:3087", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HHEX", "equivalent_identifiers": ["NCBIGene:3087", "ENSEMBL:ENSG00000152804", "HGNC:4901", "OMIM:604420", "UMLS:C1415537", "UniProtKB:Q03014", "PR:Q03014", "ENSEMBL:ENSP00000282728", "ENSEMBL:ENSP00000282728.5", "UMLS:C1684365", "MESH:C078492"], "information_content": 100.0}
{"id": "UniProtKB:Q13255-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metabotropic glutamate receptor 1 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q13255-1", "PR:Q13255-1", "ENSEMBL:ENSP00000282753", "ENSEMBL:ENSP00000282753.1", "ENSEMBL:ENSP00000354896", "ENSEMBL:ENSP00000354896.2", "ENSEMBL:ENSP00000516579", "ENSEMBL:ENSP00000516579.1", "ENSEMBL:ENSP00000516581", "ENSEMBL:ENSP00000516581.1"], "information_content": 100.0}
{"id": "UniProtKB:O95749-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "geranylgeranyl pyrophosphate synthase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95749-1", "PR:O95749-1", "ENSEMBL:ENSP00000282841", "ENSEMBL:ENSP00000282841.5", "ENSEMBL:ENSP00000351852", "ENSEMBL:ENSP00000351852.2", "ENSEMBL:ENSP00000418690", "ENSEMBL:ENSP00000418690.1"], "information_content": 100.0}
{"id": "MONDO:0008923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive palmoplantar keratoderma and congenital alopecia", "equivalent_identifiers": ["MONDO:0008923", "DOID:0111245", "OMIM:212360", "orphanet:1366", "UMLS:C1859316", "MESH:C535336", "medgen:347851", "icd11.foundation:1733151457"], "information_content": 100.0}
{"id": "UniProtKB:Q8TE60-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "a disintegrin and metalloproteinase with thrombospondin motifs 18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TE60-1", "PR:Q8TE60-1", "ENSEMBL:ENSP00000282849", "ENSEMBL:ENSP00000282849.5"], "information_content": 100.0}
{"id": "NCBIGene:115827", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB3C", "equivalent_identifiers": ["NCBIGene:115827", "ENSEMBL:ENSG00000152932", "HGNC:30269", "OMIM:612829", "UMLS:C1428952", "UniProtKB:Q96E17", "PR:Q96E17", "ENSEMBL:ENSP00000282878", "ENSEMBL:ENSP00000282878.4", "UMLS:C1437243", "MESH:C116710"], "information_content": 92.8}
{"id": "NCBIGene:9412", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MED21", "equivalent_identifiers": ["NCBIGene:9412", "ENSEMBL:ENSG00000152944", "HGNC:11473", "OMIM:603800", "UMLS:C1420526", "UniProtKB:A0A024RAW0", "UMLS:C0387864", "MESH:C098617", "UniProtKB:Q13503", "PR:Q13503", "ENSEMBL:ENSP00000282892", "ENSEMBL:ENSP00000282892.3"], "information_content": 92.8}
{"id": "MONDO:0005783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemopericardium", "equivalent_identifiers": ["MONDO:0005783", "DOID:11482", "EFO:0007298", "UMLS:C0019064", "MEDDRA:10018934", "MEDDRA:10019517", "MEDDRA:10019554", "MEDDRA:10019575", "MEDDRA:10034476", "MEDDRA:10034477", "MEDDRA:10055817", "MEDDRA:10055834", "MEDDRA:10071860", "NCIT:C111644", "SNOMEDCT:23412002", "medgen:6795", "ICD9:423.0", "HP:0011851"], "information_content": 100.0}
{"id": "UniProtKB:O00469-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:O00469-2", "PR:O00469-2", "ENSEMBL:ENSP00000282903", "ENSEMBL:ENSP00000282903.5", "ENSEMBL:ENSP00000515350", "ENSEMBL:ENSP00000515350.1", "ENSEMBL:ENSP00000515353", "ENSEMBL:ENSP00000515353.1", "ENSEMBL:ENSP00000515355", "ENSEMBL:ENSP00000515355.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY57-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase 32B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY57-1", "PR:Q9NY57-1", "ENSEMBL:ENSP00000282908", "ENSEMBL:ENSP00000282908.5"], "information_content": 100.0}
{"id": "MONDO:0013927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 3A (Zellweger)", "equivalent_identifiers": ["MONDO:0013927", "DOID:0080478", "OMIM:614859", "UMLS:C3553929", "MESH:C566633", "NCIT:C155752", "medgen:766843"], "information_content": 100.0}
{"id": "NCBIGene:7545", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZIC1", "equivalent_identifiers": ["NCBIGene:7545", "ENSEMBL:ENSG00000152977", "HGNC:12872", "OMIM:600470", "UMLS:C1421581", "UniProtKB:Q15915", "PR:Q15915", "ENSEMBL:ENSP00000282928", "ENSEMBL:ENSP00000282928.4", "UMLS:C1454346", "UMLS:C2700327", "MESH:C492123"], "information_content": 95.4}
{"id": "NCBIGene:64946", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CENPH", "equivalent_identifiers": ["NCBIGene:64946", "ENSEMBL:ENSG00000153044", "HGNC:17268", "OMIM:605607", "UMLS:C1424860", "UniProtKB:A0A0S2Z5T0", "UMLS:C0909664", "MESH:C121933", "UniProtKB:Q9H3R5", "PR:Q9H3R5", "ENSEMBL:ENSP00000283006", "ENSEMBL:ENSP00000283006.2"], "information_content": 100.0}
{"id": "NCBIGene:146279", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEKT5", "equivalent_identifiers": ["NCBIGene:146279", "ENSEMBL:ENSG00000153060", "HGNC:26554", "OMIM:618686", "UMLS:C2240076", "UniProtKB:Q96M29", "PR:Q96M29", "ENSEMBL:ENSP00000283025", "ENSEMBL:ENSP00000283025.2"], "information_content": 100.0}
{"id": "UniProtKB:P53384-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic Fe-S cluster assembly factor NUBP1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P53384-1", "PR:P53384-1", "ENSEMBL:ENSP00000283027", "ENSEMBL:ENSP00000283027.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BVS4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase RIO2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVS4-1", "PR:Q9BVS4-1", "ENSEMBL:ENSP00000283109", "ENSEMBL:ENSP00000283109.3"], "information_content": 100.0}
{"id": "NCBIGene:8467", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMARCA5", "equivalent_identifiers": ["NCBIGene:8467", "ENSEMBL:ENSG00000153147", "HGNC:11101", "OMIM:603375", "UMLS:C1335844", "UniProtKB:O60264", "PR:O60264", "ENSEMBL:ENSP00000283131", "ENSEMBL:ENSP00000283131.3", "UMLS:C1449387", "MESH:C409462"], "information_content": 87.2}
{"id": "UniProtKB:Q5T4T6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptonemal complex protein 2-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T4T6-1", "PR:Q5T4T6-1", "ENSEMBL:ENSP00000283141", "ENSEMBL:ENSP00000283141.6"], "information_content": 100.0}
{"id": "MONDO:0009173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital enteropathy due to enteropeptidase deficiency", "equivalent_identifiers": ["MONDO:0009173", "DOID:0111667", "OMIM:226200", "orphanet:168601", "UMLS:C0268416", "MESH:C562649", "SNOMEDCT:124498007", "SNOMEDCT:190952002", "SNOMEDCT:56661000", "medgen:82802"], "information_content": 100.0}
{"id": "MONDO:0016759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 2", "equivalent_identifiers": ["MONDO:0016759", "DOID:0112328", "orphanet:2524", "UMLS:C2932714", "MESH:C548070", "NCIT:C124057", "SNOMEDCT:715463008", "medgen:420956", "icd11.foundation:1158649247"], "information_content": 88.2}
{"id": "NCBIGene:654", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BMP6", "equivalent_identifiers": ["NCBIGene:654", "ENSEMBL:ENSG00000153162", "HGNC:1073", "OMIM:112266", "UMLS:C1332427", "UniProtKB:B4DUF7", "UniProtKB:P22004", "PR:P22004", "ENSEMBL:ENSP00000283147", "ENSEMBL:ENSP00000283147.6", "UMLS:C1612225", "MESH:C525816", "UniProtKB:Q4VBA3"], "information_content": 88.2}
{"id": "UniProtKB:Q8NBZ7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronic acid decarboxylase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBZ7-2", "PR:Q8NBZ7-2", "ENSEMBL:ENSP00000283148", "ENSEMBL:ENSP00000283148.7"], "information_content": 100.0}
{"id": "MONDO:0005723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cryptococcal meningitis", "equivalent_identifiers": ["MONDO:0005723", "DOID:0080159", "EFO:0007228", "UMLS:C0085436", "MESH:D016919", "MEDDRA:10011487", "MEDDRA:10011488", "MEDDRA:10027209", "MEDDRA:10027257", "NCIT:C174113", "SNOMEDCT:14232007", "medgen:88410", "HP:0032160"], "information_content": 100.0}
{"id": "NCBIGene:5903", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RANBP2", "equivalent_identifiers": ["NCBIGene:5903", "ENSEMBL:ENSG00000153201", "HGNC:9848", "OMIM:601181", "UMLS:C1419259", "UniProtKB:P49792", "PR:P49792", "ENSEMBL:ENSP00000283195", "ENSEMBL:ENSP00000283195.6", "UMLS:C1568737"], "information_content": 79.9}
{"id": "UniProtKB:Q96K49-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 87B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96K49-1", "PR:Q96K49-1", "ENSEMBL:ENSP00000283206", "ENSEMBL:ENSP00000283206.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15256-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase R isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q15256-1", "PR:Q15256-1", "ENSEMBL:ENSP00000283228", "ENSEMBL:ENSP00000283228.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13018-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "secretory phospholipase A2 receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13018-1", "PR:Q13018-1", "ENSEMBL:ENSP00000283243", "ENSEMBL:ENSP00000283243.7"], "information_content": 100.0}
{"id": "MONDO:0006637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute kidney tubular necrosis", "equivalent_identifiers": ["MONDO:0006637", "DOID:12556", "EFO:1000794", "UMLS:C0022672", "MESH:D007683", "MEDDRA:10001099", "MEDDRA:10024963", "MEDDRA:10029162", "MEDDRA:10038541", "NCIT:C34749", "SNOMEDCT:35455006", "medgen:7213", "ICD10:N17.0", "HP:0008682"], "information_content": 100.0}
{"id": "UniProtKB:P18564-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin beta-6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P18564-1", "PR:P18564-1", "ENSEMBL:ENSP00000283249", "ENSEMBL:ENSP00000283249.2", "ENSEMBL:ENSP00000386367", "ENSEMBL:ENSP00000386367.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY46-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium channel protein type 3 subunit alpha isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY46-3", "PR:Q9NY46-3", "ENSEMBL:ENSP00000283254", "ENSEMBL:ENSP00000283254.7"], "information_content": 100.0}
{"id": "MONDO:0000032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "febrile seizures, familial", "equivalent_identifiers": ["MONDO:0000032", "DOID:0111297", "OMIM.PS:121210"], "information_content": 82.6}
{"id": "UniProtKB:Q8TBJ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fez family zinc finger protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBJ5-1", "PR:Q8TBJ5-1", "ENSEMBL:ENSP00000283268", "ENSEMBL:ENSP00000283268.3", "ENSEMBL:ENSP00000418589", "ENSEMBL:ENSP00000418589.1", "ENSEMBL:ENSP00000418804", "ENSEMBL:ENSP00000418804.1"], "information_content": 100.0}
{"id": "UniProtKB:P40200-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell surface protein tactile isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P40200-1", "PR:P40200-1", "ENSEMBL:ENSP00000283285", "ENSEMBL:ENSP00000283285.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NT62-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-like-conjugating enzyme ATG3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NT62-1", "PR:Q9NT62-1", "ENSEMBL:ENSP00000283290", "ENSEMBL:ENSP00000283290.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G protein-coupled receptor F5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZF2-1", "PR:Q8IZF2-1", "ENSEMBL:ENSP00000265417", "ENSEMBL:ENSP00000265417.6", "ENSEMBL:ENSP00000283296", "ENSEMBL:ENSP00000283296.7"], "information_content": 100.0}
{"id": "MONDO:0006599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "physical urticaria", "equivalent_identifiers": ["MONDO:0006599", "DOID:0060220", "EFO:1000754", "UMLS:C4551831", "MEDDRA:10034990", "MEDDRA:10046751", "SNOMEDCT:402601007", "medgen:1639813", "HP:0410134"], "information_content": 88.2}
{"id": "UniProtKB:Q9Y2L5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trafficking protein particle complex subunit 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2L5-1", "PR:Q9Y2L5-1", "ENSEMBL:ENSP00000283351", "ENSEMBL:ENSP00000283351.4"], "information_content": 100.0}
{"id": "NCBIGene:153643", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM81B", "equivalent_identifiers": ["NCBIGene:153643", "ENSEMBL:ENSG00000153347", "HGNC:26335", "UMLS:C1825157", "UniProtKB:Q96LP2", "PR:Q96LP2", "ENSEMBL:ENSP00000283357", "ENSEMBL:ENSP00000283357.5"], "information_content": 100.0}
{"id": "NCBIGene:79888", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LPCAT1", "equivalent_identifiers": ["NCBIGene:79888", "ENSEMBL:ENSG00000153395", "HGNC:25718", "OMIM:610472", "UMLS:C1825853", "UniProtKB:Q8NF37", "PR:Q8NF37", "ENSEMBL:ENSP00000283415", "ENSEMBL:ENSP00000283415.3", "ENSEMBL:ENSP00000423472", "ENSEMBL:ENSP00000423472.1", "UMLS:C4723707"], "information_content": 88.2}
{"id": "NCBIGene:121793", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX29", "equivalent_identifiers": ["NCBIGene:121793", "ENSEMBL:ENSG00000153495", "HGNC:20370", "UMLS:C3469982", "UniProtKB:Q8N6K0", "PR:Q8N6K0", "ENSEMBL:ENSP00000283547", "ENSEMBL:ENSP00000283547.1"], "information_content": 100.0}
{"id": "NCBIGene:122258", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPACA7", "equivalent_identifiers": ["NCBIGene:122258", "ENSEMBL:ENSG00000153498", "HGNC:29575", "UMLS:C3146547", "UniProtKB:Q96KW9", "PR:Q96KW9", "ENSEMBL:ENSP00000283550", "ENSEMBL:ENSP00000283550.3", "ENSEMBL:ENSP00000480272", "ENSEMBL:ENSP00000480272.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZI7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "upstream-binding protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZI7-1", "PR:Q9NZI7-1", "ENSEMBL:ENSP00000283628", "ENSEMBL:ENSP00000283628.5", "ENSEMBL:ENSP00000283629", "ENSEMBL:ENSP00000283629.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H871-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein transferase RMND5A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H871-1", "PR:Q9H871-1", "ENSEMBL:ENSP00000283632", "ENSEMBL:ENSP00000283632.4"], "information_content": 100.0}
{"id": "NCBIGene:22934", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPIA", "equivalent_identifiers": ["NCBIGene:22934", "ENSEMBL:ENSG00000153574", "HGNC:10297", "OMIM:180430", "UMLS:C1419625", "UniProtKB:P49247", "PR:P49247", "ENSEMBL:ENSP00000283646", "ENSEMBL:ENSP00000283646.3"], "information_content": 95.4}
{"id": "MONDO:0033282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 5", "equivalent_identifiers": ["MONDO:0033282", "DOID:0080274", "OMIM:617613", "orphanet:569274", "UMLS:C4539919", "SNOMEDCT:1279890001", "medgen:1623132"], "information_content": 100.0}
{"id": "UniProtKB:O15195-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "villin-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15195-1", "PR:O15195-1", "ENSEMBL:ENSP00000283713", "ENSEMBL:ENSP00000283713.6", "ENSEMBL:ENSP00000373266", "ENSEMBL:ENSP00000373266.2"], "information_content": 100.0}
{"id": "MONDO:0004904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toxic maculopathy", "equivalent_identifiers": ["MONDO:0004904", "DOID:9867", "UMLS:C0271086", "MEDDRA:10044230", "SNOMEDCT:44115007", "medgen:543164", "icd11.foundation:1889317154", "ICD10:H35.38", "ICD9:362.55"], "information_content": 100.0}
{"id": "MONDO:0013677", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant", "equivalent_identifiers": ["MONDO:0013677", "DOID:0070252", "OMIM:614302", "UMLS:C3553060", "medgen:765974"], "information_content": 100.0}
{"id": "UniProtKB:P29508-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serpin B3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P29508-1", "PR:P29508-1", "ENSEMBL:ENSP00000283752", "ENSEMBL:ENSP00000283752.5"], "information_content": 100.0}
{"id": "NCBIGene:3081", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HGD", "equivalent_identifiers": ["NCBIGene:3081", "ENSEMBL:ENSG00000113924", "HGNC:4892", "OMIM:607474", "UMLS:C1415533", "UniProtKB:B3KW64", "UniProtKB:Q93099", "PR:Q93099", "ENSEMBL:ENSP00000283871", "ENSEMBL:ENSP00000283871.5"], "information_content": 95.4}
{"id": "MONDO:0001776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Prostatic Stone", "equivalent_identifiers": ["MONDO:0001776", "DOID:13689", "UMLS:C0149525", "MEDDRA:10007017", "MEDDRA:10007019", "MEDDRA:10036945", "NCIT:C26936", "SNOMEDCT:85324003", "medgen:57431", "ICD10:N42.0", "ICD9:602.0", "HP:0034882"], "information_content": 100.0}
{"id": "MONDO:0012592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 11", "equivalent_identifiers": ["MONDO:0012592", "DOID:0110351", "OMIM:610968", "UMLS:C3151218", "medgen:462568"], "information_content": 100.0}
{"id": "NCBIGene:2960", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GTF2E1", "equivalent_identifiers": ["NCBIGene:2960", "ENSEMBL:ENSG00000153767", "HGNC:4650", "OMIM:189962", "UMLS:C1333719", "UniProtKB:P29083", "PR:P29083", "ENSEMBL:ENSP00000283875", "ENSEMBL:ENSP00000283875.5", "UMLS:C0378728", "MESH:C000719513"], "information_content": 95.4}
{"id": "MONDO:0957221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 70, autosomal recessive", "equivalent_identifiers": ["MONDO:0957221", "DOID:0070454", "OMIM:620323"], "information_content": 100.0}
{"id": "UniProtKB:Q9UEE9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "craniofacial development protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UEE9-1", "PR:Q9UEE9-1", "ENSEMBL:ENSP00000283882", "ENSEMBL:ENSP00000283882.3"], "information_content": 100.0}
{"id": "NCBIGene:9407", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMPRSS11D", "equivalent_identifiers": ["NCBIGene:9407", "ENSEMBL:ENSG00000153802", "HGNC:24059", "OMIM:605369", "UMLS:C1540026", "UniProtKB:O60235", "PR:O60235", "ENSEMBL:ENSP00000283916", "ENSEMBL:ENSP00000283916.6", "UMLS:C5226424", "MESH:C000634091"], "information_content": 100.0}
{"id": "MONDO:0011761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 21", "equivalent_identifiers": ["MONDO:0011761", "DOID:0110551", "OMIM:607017", "UMLS:C1846922", "MESH:C564634", "medgen:339643"], "information_content": 100.0}
{"id": "UniProtKB:P31260-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Hox-A10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P31260-1", "PR:P31260-1", "ENSEMBL:ENSP00000283921", "ENSEMBL:ENSP00000283921.4"], "information_content": 100.0}
{"id": "UniProtKB:Q86VZ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "juxtaposed with another zinc finger protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VZ6-1", "PR:Q86VZ6-1", "ENSEMBL:ENSP00000283928", "ENSEMBL:ENSP00000283928.5"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z2X4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PTB-containing, cubilin and LRP1-interacting protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2X4-1", "PR:Q7Z2X4-1", "ENSEMBL:ENSP00000283937", "ENSEMBL:ENSP00000283937.8"], "information_content": 100.0}
{"id": "UniProtKB:O94760-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O94760-1", "PR:O94760-1", "ENSEMBL:ENSP00000284031", "ENSEMBL:ENSP00000284031.8"], "information_content": 100.0}
{"id": "UniProtKB:P52429-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diacylglycerol kinase epsilon isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P52429-1", "PR:P52429-1", "ENSEMBL:ENSP00000284061", "ENSEMBL:ENSP00000284061.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96DH6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein Musashi homolog 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DH6-1", "PR:Q96DH6-1", "ENSEMBL:ENSP00000284073", "ENSEMBL:ENSP00000284073.2", "ENSEMBL:ENSP00000502137", "ENSEMBL:ENSP00000502137.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9F7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysophospholipase D GDPD1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9F7-1", "PR:Q8N9F7-1", "ENSEMBL:ENSP00000284116", "ENSEMBL:ENSP00000284116.4"], "information_content": 100.0}
{"id": "NCBIGene:223117", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEMA3D", "equivalent_identifiers": ["NCBIGene:223117", "ENSEMBL:ENSG00000153993", "HGNC:10726", "OMIM:609907", "UMLS:C1419945", "UniProtKB:O95025", "PR:O95025", "ENSEMBL:ENSP00000284136", "ENSEMBL:ENSP00000284136.6", "UMLS:C3883862", "MESH:C000592402"], "information_content": 95.4}
{"id": "NCBIGene:10750", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRAP", "equivalent_identifiers": ["NCBIGene:10750", "ENSEMBL:ENSG00000154016", "HGNC:4562", "OMIM:604330", "UMLS:C1333705", "UniProtKB:I3L2P9", "ENSEMBL:ENSP00000459833", "ENSEMBL:ENSP00000459833.1", "UniProtKB:Q13588", "PR:Q13588", "ENSEMBL:ENSP00000284154", "ENSEMBL:ENSP00000284154.5", "UMLS:C1722062", "MESH:C510602"], "information_content": 88.2}
{"id": "UniProtKB:Q9P2X3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein IMPACT isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2X3-1", "PR:Q9P2X3-1", "ENSEMBL:ENSP00000284202", "ENSEMBL:ENSP00000284202.4"], "information_content": 100.0}
{"id": "MONDO:0013489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 89", "equivalent_identifiers": ["MONDO:0013489", "DOID:0110534", "OMIM:613916", "UMLS:C3151351", "medgen:462701"], "information_content": 100.0}
{"id": "NCBIGene:7070", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THY1", "equivalent_identifiers": ["NCBIGene:7070", "ENSEMBL:ENSG00000154096", "HGNC:11801", "OMIM:188230", "UMLS:C1420728", "UniProtKB:B0YJA4", "UniProtKB:J3QRJ3", "ENSEMBL:ENSP00000464248", "ENSEMBL:ENSP00000464248.1", "UniProtKB:P04216", "PR:P04216", "ENSEMBL:ENSP00000284240", "ENSEMBL:ENSP00000284240.6", "ENSEMBL:ENSP00000431301", "ENSEMBL:ENSP00000431301.1", "UMLS:C2348783"], "information_content": 88.2}
{"id": "UniProtKB:Q8WXH2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "junctophilin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXH2-1", "PR:Q8WXH2-1", "ENSEMBL:ENSP00000284262", "ENSEMBL:ENSP00000284262.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mineralization regulator ANKH isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCJ1-1", "PR:Q9HCJ1-1", "ENSEMBL:ENSP00000284268", "ENSEMBL:ENSP00000284268.6"], "information_content": 100.0}
{"id": "NCBIGene:84959", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBASH3B", "equivalent_identifiers": ["NCBIGene:84959", "ENSEMBL:ENSG00000154127", "HGNC:29884", "OMIM:609201", "UMLS:C1836606", "UniProtKB:Q8TF42", "PR:Q8TF42", "ENSEMBL:ENSP00000284273", "ENSEMBL:ENSP00000284273.5", "UMLS:C1506130", "MESH:C489397"], "information_content": 95.4}
{"id": "NCBIGene:90268", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTULIN", "equivalent_identifiers": ["NCBIGene:90268", "ENSEMBL:ENSG00000154124", "HGNC:25118", "OMIM:615712", "UMLS:C1825233", "UniProtKB:Q96BN8", "PR:Q96BN8", "ENSEMBL:ENSP00000284274", "ENSEMBL:ENSP00000284274.4", "ENSEMBL:ENSP00000520900", "ENSEMBL:ENSP00000520900.1", "UMLS:C3657169", "UMLS:C5444436", "MESH:C582107"], "information_content": 89.4}
{"id": "DOID:0050693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brooke-Spiegler syndrome", "equivalent_identifiers": ["DOID:0050693", "OMIM:605041", "UMLS:C1857941", "MEDDRA:10087912", "NCIT:C43352", "SNOMEDCT:703531009"], "information_content": 95.4}
{"id": "NCBIGene:116337", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PANX3", "equivalent_identifiers": ["NCBIGene:116337", "ENSEMBL:ENSG00000154143", "HGNC:20573", "OMIM:608422", "UMLS:C1427010", "UniProtKB:Q96QZ0", "PR:Q96QZ0", "ENSEMBL:ENSP00000284288", "ENSEMBL:ENSP00000284288.2", "UMLS:C1528371", "MESH:C492766"], "information_content": 95.4}
{"id": "NCBIGene:4900", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NRGN", "equivalent_identifiers": ["NCBIGene:4900", "ENSEMBL:ENSG00000154146", "HGNC:8000", "OMIM:602350", "UMLS:C1417847", "UniProtKB:Q92686", "PR:Q92686", "ENSEMBL:ENSP00000284292", "ENSEMBL:ENSP00000284292.5", "ENSEMBL:ENSP00000399591", "ENSEMBL:ENSP00000399591.1", "UMLS:C1506572", "MESH:C496649"], "information_content": 100.0}
{"id": "MONDO:0009366", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "normal pressure hydrocephalus", "equivalent_identifiers": ["MONDO:0009366", "DOID:1572", "OMIM:236690", "EFO:1001065", "UMLS:C0020258", "UMLS:C5231392", "MESH:D006850", "MEDDRA:10029773", "MEDDRA:10029774", "SNOMEDCT:30753002", "medgen:42526", "ICD10:G91.2", "HP:0002343"], "information_content": 100.0}
{"id": "NCBIGene:2838", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR15", "equivalent_identifiers": ["NCBIGene:2838", "ENSEMBL:ENSG00000154165", "HGNC:4469", "OMIM:601166", "UMLS:C1415210", "UniProtKB:B2R8H6", "UniProtKB:B6V9G9", "UniProtKB:P49685", "PR:P49685", "ENSEMBL:ENSP00000284311", "ENSEMBL:ENSP00000284311.3", "UMLS:C1447488", "MESH:C103539"], "information_content": 88.2}
{"id": "NCBIGene:9868", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOMM70", "equivalent_identifiers": ["NCBIGene:9868", "ENSEMBL:ENSG00000154174", "HGNC:11985", "OMIM:606081", "UMLS:C1420857", "UniProtKB:O94826", "PR:O94826", "ENSEMBL:ENSP00000284320", "ENSEMBL:ENSP00000284320.5", "UMLS:C1144577", "MESH:C402118"], "information_content": 87.2}
{"id": "UniProtKB:Q7Z7G0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "target of Nesh-SH3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z7G0-1", "PR:Q7Z7G0-1", "ENSEMBL:ENSP00000284322", "ENSEMBL:ENSP00000284322.6"], "information_content": 100.0}
{"id": "NCBIGene:204219", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CERS3", "equivalent_identifiers": ["NCBIGene:204219", "ENSEMBL:ENSG00000154227", "HGNC:23752", "OMIM:615276", "UMLS:C3469889", "UniProtKB:Q8IU89", "PR:Q8IU89", "ENSEMBL:ENSP00000284382", "ENSEMBL:ENSP00000284382.4", "ENSEMBL:ENSP00000377672", "ENSEMBL:ENSP00000377672.3", "ENSEMBL:ENSP00000437640", "ENSEMBL:ENSP00000437640.2", "ENSEMBL:ENSP00000506641", "ENSEMBL:ENSP00000506641.1", "UMLS:C3710865", "MESH:C583317"], "information_content": 100.0}
{"id": "MONDO:0007850", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Senter syndrome", "equivalent_identifiers": ["MONDO:0007850", "DOID:0060871", "OMIM:148210", "UMLS:C0265336", "medgen:120536"], "information_content": 100.0}
{"id": "UniProtKB:Q8N139-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family A member 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N139-1", "PR:Q8N139-1", "ENSEMBL:ENSP00000284425", "ENSEMBL:ENSP00000284425.1"], "information_content": 100.0}
{"id": "MONDO:0014440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 12", "equivalent_identifiers": ["MONDO:0014440", "DOID:0110134", "OMIM:615989", "EFO:0009023", "UMLS:C1859570", "MESH:C565921", "medgen:347910"], "information_content": 100.0}
{"id": "UniProtKB:P09936-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase isozyme L1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P09936-1", "PR:P09936-1", "ENSEMBL:ENSP00000284440", "ENSEMBL:ENSP00000284440.4", "ENSEMBL:ENSP00000422542", "ENSEMBL:ENSP00000422542.1"], "information_content": 100.0}
{"id": "NCBIGene:84976", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DISP1", "equivalent_identifiers": ["NCBIGene:84976", "ENSEMBL:ENSG00000154309", "HGNC:19711", "OMIM:607502", "UMLS:C1426351", "UniProtKB:Q96F81", "PR:Q96F81", "ENSEMBL:ENSP00000284476", "ENSEMBL:ENSP00000284476.6", "ENSEMBL:ENSP00000501574", "ENSEMBL:ENSP00000501574.1", "ENSEMBL:ENSP00000501808", "ENSEMBL:ENSP00000501808.1", "ENSEMBL:ENSP00000502357", "ENSEMBL:ENSP00000502357.1", "UMLS:C5544304", "MESH:C000718238"], "information_content": 92.8}
{"id": "NCBIGene:83648", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM167A", "equivalent_identifiers": ["NCBIGene:83648", "ENSEMBL:ENSG00000154319", "HGNC:15549", "OMIM:610085", "UMLS:C1423570", "UniProtKB:A0AAG2UYC2", "ENSEMBL:ENSP00000518496", "ENSEMBL:ENSP00000518496.1", "ENSEMBL:ENSP00000518497", "ENSEMBL:ENSP00000518497.1", "ENSEMBL:ENSP00000518498", "ENSEMBL:ENSP00000518498.1", "UniProtKB:Q96KS9", "PR:Q96KS9", "ENSEMBL:ENSP00000284486", "ENSEMBL:ENSP00000284486.4", "ENSEMBL:ENSP00000432232", "ENSEMBL:ENSP00000432232.1", "ENSEMBL:ENSP00000436655", "ENSEMBL:ENSP00000436655.1", "UMLS:C5197670", "MESH:C584607"], "information_content": 100.0}
{"id": "UniProtKB:Q969S2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endonuclease 8-like 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969S2-1", "PR:Q969S2-1", "ENSEMBL:ENSP00000284503", "ENSEMBL:ENSP00000284503.6", "ENSEMBL:ENSP00000394023", "ENSEMBL:ENSP00000394023.2", "ENSEMBL:ENSP00000397538", "ENSEMBL:ENSP00000397538.2", "ENSEMBL:ENSP00000518488", "ENSEMBL:ENSP00000518488.1", "ENSEMBL:ENSP00000518490", "ENSEMBL:ENSP00000518490.1", "ENSEMBL:ENSP00000518491", "ENSEMBL:ENSP00000518491.1"], "information_content": 92.8}
{"id": "NCBIGene:79895", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP8B4", "equivalent_identifiers": ["NCBIGene:79895", "ENSEMBL:ENSG00000104043", "HGNC:13536", "OMIM:609123", "UMLS:C1422046", "UniProtKB:Q6PG43", "UMLS:C4277096", "MESH:C000607204", "UniProtKB:Q8TF62", "PR:Q8TF62", "ENSEMBL:ENSP00000284509", "ENSEMBL:ENSP00000284509.6", "ENSEMBL:ENSP00000453169", "ENSEMBL:ENSP00000453169.1"], "information_content": 95.4}
{"id": "UniProtKB:P56704-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Wnt-3a isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P56704-1", "PR:P56704-1", "ENSEMBL:ENSP00000284523", "ENSEMBL:ENSP00000284523.1"], "information_content": 100.0}
{"id": "MONDO:0859209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Zaki syndrome", "equivalent_identifiers": ["MONDO:0859209", "DOID:0070473", "OMIM:619648", "UMLS:C5562037", "medgen:1794247"], "information_content": 100.0}
{"id": "UniProtKB:Q96F44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96F44-1", "PR:Q96F44-1", "ENSEMBL:ENSP00000284551", "ENSEMBL:ENSP00000284551.6"], "information_content": 100.0}
{"id": "UniProtKB:Q16821-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1 regulatory subunit 3A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16821-1", "PR:Q16821-1", "ENSEMBL:ENSP00000284601", "ENSEMBL:ENSP00000284601.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6IQ19-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centriole, cilia and spindle-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IQ19-1", "PR:Q6IQ19-1", "ENSEMBL:ENSP00000284617", "ENSEMBL:ENSP00000284617.2", "ENSEMBL:ENSP00000355648", "ENSEMBL:ENSP00000355648.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWH4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWH4-1", "PR:Q8WWH4-1", "ENSEMBL:ENSP00000284629", "ENSEMBL:ENSP00000284629.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6J0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase SH3RF1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6J0-1", "PR:Q7Z6J0-1", "ENSEMBL:ENSP00000284637", "ENSEMBL:ENSP00000284637.9"], "information_content": 100.0}
{"id": "UniProtKB:O60662-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 41 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O60662-1", "PR:O60662-1", "ENSEMBL:ENSP00000284669", "ENSEMBL:ENSP00000284669.1"], "information_content": 100.0}
{"id": "NCBIGene:2849", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR26", "equivalent_identifiers": ["NCBIGene:2849", "ENSEMBL:ENSG00000154478", "HGNC:4481", "OMIM:604847", "UMLS:C1415219", "UniProtKB:Q8NDV2", "PR:Q8NDV2", "ENSEMBL:ENSP00000284674", "ENSEMBL:ENSP00000284674.1", "UMLS:C1505861", "MESH:C489011"], "information_content": 95.4}
{"id": "MONDO:0011032", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 11", "equivalent_identifiers": ["MONDO:0011032", "DOID:0110543", "OMIM:601317", "UMLS:C1832475", "MESH:C563353", "medgen:331297"], "information_content": 100.0}
{"id": "UniProtKB:Q96M02-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "(E2-independent) E3 ubiquitin-conjugating enzyme FATS isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96M02-1", "PR:Q96M02-1", "ENSEMBL:ENSP00000284694", "ENSEMBL:ENSP00000284694.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9NTK5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "obg-like ATPase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NTK5-1", "PR:Q9NTK5-1", "ENSEMBL:ENSP00000284719", "ENSEMBL:ENSP00000284719.3"], "information_content": 100.0}
{"id": "NCBIGene:518", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP5MC3", "equivalent_identifiers": ["NCBIGene:518", "ENSEMBL:ENSG00000154518", "HGNC:843", "OMIM:602736", "UMLS:C1412664", "UniProtKB:P48201", "PR:P48201", "ENSEMBL:ENSP00000284727", "ENSEMBL:ENSP00000284727.4", "ENSEMBL:ENSP00000376324", "ENSEMBL:ENSP00000376324.3", "ENSEMBL:ENSP00000387317", "ENSEMBL:ENSP00000387317.1"], "information_content": 92.8}
{"id": "UniProtKB:Q53GG5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PDZ and LIM domain protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53GG5-1", "PR:Q53GG5-1", "ENSEMBL:ENSP00000284767", "ENSEMBL:ENSP00000284767.8"], "information_content": 100.0}
{"id": "MONDO:0011657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 24", "equivalent_identifiers": ["MONDO:0011657", "DOID:0110554", "OMIM:606282", "UMLS:C1853451", "MESH:C565239", "medgen:377905"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6Y9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphocyte antigen 96 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6Y9-1", "PR:Q9Y6Y9-1", "ENSEMBL:ENSP00000284818", "ENSEMBL:ENSP00000284818.2"], "information_content": 88.2}
{"id": "NCBIGene:9087", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMSB4Y", "equivalent_identifiers": ["NCBIGene:9087", "ENSEMBL:ENSG00000154620", "HGNC:11882", "OMIM:400017", "UMLS:C1420788", "UniProtKB:O14604", "PR:O14604", "ENSEMBL:ENSP00000284856", "ENSEMBL:ENSP00000284856.3", "UMLS:C4521291"], "information_content": 100.0}
{"id": "UniProtKB:P78310-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coxsackievirus and adenovirus receptor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P78310-1", "PR:P78310-1", "ENSEMBL:ENSP00000284878", "ENSEMBL:ENSP00000284878.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYK6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein EURL homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYK6-1", "PR:Q9NYK6-1", "ENSEMBL:ENSP00000284881", "ENSEMBL:ENSP00000284881.4"], "information_content": 100.0}
{"id": "NCBIGene:5651", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMPRSS15", "equivalent_identifiers": ["NCBIGene:5651", "ENSEMBL:ENSG00000154646", "HGNC:9490", "OMIM:606635", "UMLS:C1418973", "UniProtKB:P98073", "PR:P98073", "ENSEMBL:ENSP00000284885", "ENSEMBL:ENSP00000284885.3"], "information_content": 90.9}
{"id": "UniProtKB:P05067-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amyloid-beta precursor protein isoform APP770 (human)", "equivalent_identifiers": ["UniProtKB:P05067-1", "PR:P05067-1", "ENSEMBL:ENSP00000284981", "ENSEMBL:ENSP00000284981.4"], "information_content": 100.0}
{"id": "MONDO:0018155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lateral sclerosis", "equivalent_identifiers": ["MONDO:0018155", "DOID:230", "orphanet:35689", "UMLS:C0154682", "MEDDRA:10036704", "NCIT:C129933", "SNOMEDCT:81211007", "medgen:57591", "icd11.foundation:1686688462", "ICD10:G12.23", "ICD9:335.24"], "information_content": 92.8}
{"id": "MONDO:0010735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kennedy disease", "equivalent_identifiers": ["MONDO:0010735", "DOID:0060161", "OMIM:313200", "orphanet:481", "UMLS:C1839259", "UMLS:C2931395", "MESH:C537017", "MESH:D055534", "MEDDRA:10023331", "MEDDRA:10068600", "NCIT:C85233", "medgen:333282"], "information_content": 100.0}
{"id": "NCBIGene:9510", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAMTS1", "equivalent_identifiers": ["NCBIGene:9510", "ENSEMBL:ENSG00000154734", "HGNC:217", "OMIM:605174", "UMLS:C1332018", "UniProtKB:B2RB33", "UniProtKB:Q9UHI8", "PR:Q9UHI8", "ENSEMBL:ENSP00000284984", "ENSEMBL:ENSP00000284984.2", "UMLS:C1307941", "MESH:C103859"], "information_content": 92.8}
{"id": "NCBIGene:11096", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAMTS5", "equivalent_identifiers": ["NCBIGene:11096", "ENSEMBL:ENSG00000154736", "HGNC:221", "OMIM:605007", "UMLS:C1412211", "UniProtKB:Q9UNA0", "PR:Q9UNA0", "ENSEMBL:ENSP00000284987", "ENSEMBL:ENSP00000284987.5", "UMLS:C1312202", "MESH:C121532"], "information_content": 92.8}
{"id": "UniProtKB:Q8NCE0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA-splicing endonuclease subunit Sen2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCE0-1", "PR:Q8NCE0-1", "ENSEMBL:ENSP00000284995", "ENSEMBL:ENSP00000284995.6", "ENSEMBL:ENSP00000385976", "ENSEMBL:ENSP00000385976.3", "ENSEMBL:ENSP00000505099", "ENSEMBL:ENSP00000505099.1", "ENSEMBL:ENSP00000505274", "ENSEMBL:ENSP00000505274.1", "ENSEMBL:ENSP00000505436", "ENSEMBL:ENSP00000505436.1", "ENSEMBL:ENSP00000505799", "ENSEMBL:ENSP00000505799.1", "ENSEMBL:ENSP00000505890", "ENSEMBL:ENSP00000505890.1"], "information_content": 100.0}
{"id": "UniProtKB:Q68D06-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Schlafen family member 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68D06-1", "PR:Q68D06-1", "ENSEMBL:ENSP00000285013", "ENSEMBL:ENSP00000285013.6", "ENSEMBL:ENSP00000434439", "ENSEMBL:ENSP00000434439.1", "ENSEMBL:ENSP00000444016", "ENSEMBL:ENSP00000444016.1", "ENSEMBL:ENSP00000467426", "ENSEMBL:ENSP00000467426.1"], "information_content": 100.0}
{"id": "MONDO:0014830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 20", "equivalent_identifiers": ["MONDO:0014830", "DOID:0111055", "OMIM:616913", "orphanet:466806", "UMLS:C4310797", "medgen:934764"], "information_content": 100.0}
{"id": "NCBIGene:7476", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT7A", "equivalent_identifiers": ["NCBIGene:7476", "ENSEMBL:ENSG00000154764", "HGNC:12786", "OMIM:601570", "UMLS:C1337005", "UniProtKB:O00755", "PR:O00755", "ENSEMBL:ENSP00000285018", "ENSEMBL:ENSP00000285018.4", "UMLS:C0295892", "MESH:C092778"], "information_content": 89.4}
{"id": "MONDO:0008572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tibia, hypoplasia or aplasia of, with polydactyly", "equivalent_identifiers": ["MONDO:0008572", "DOID:0111564", "OMIM:188740", "orphanet:988", "UMLS:C1861098", "UMLS:C1861099", "UMLS:C4274307", "MESH:C535564", "MESH:C566046", "SNOMEDCT:716741008", "medgen:348786"], "information_content": 100.0}
{"id": "UniProtKB:Q01831-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA repair protein complementing XP-C cells isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01831-1", "PR:Q01831-1", "ENSEMBL:ENSP00000285021", "ENSEMBL:ENSP00000285021.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULV0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-Vb isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULV0-1", "PR:Q9ULV0-1", "ENSEMBL:ENSP00000285039", "ENSEMBL:ENSP00000285039.6"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZNL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FYVE, RhoGEF and PH domain-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZNL6-1", "PR:Q6ZNL6-1", "ENSEMBL:ENSP00000285046", "ENSEMBL:ENSP00000285046.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFG4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "folliculin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFG4-1", "PR:Q8NFG4-1", "ENSEMBL:ENSP00000285071", "ENSEMBL:ENSP00000285071.4"], "information_content": 100.0}
{"id": "NCBIGene:10449", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACAA2", "equivalent_identifiers": ["NCBIGene:10449", "ENSEMBL:ENSG00000167315", "HGNC:83", "OMIM:604770", "UMLS:C1412103", "UniProtKB:B3KNP8", "UMLS:C5773019", "MESH:C000723675", "UniProtKB:P42765", "PR:P42765", "ENSEMBL:ENSP00000285093", "ENSEMBL:ENSP00000285093.8"], "information_content": 95.4}
{"id": "UniProtKB:Q96BD8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SKA complex subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BD8-1", "PR:Q96BD8-1", "ENSEMBL:ENSP00000285116", "ENSEMBL:ENSP00000285116.3", "ENSEMBL:ENSP00000381470", "ENSEMBL:ENSP00000381470.1", "ENSEMBL:ENSP00000458992", "ENSEMBL:ENSP00000458992.1", "ENSEMBL:ENSP00000478259", "ENSEMBL:ENSP00000478259.1"], "information_content": 100.0}
{"id": "MONDO:0010092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Filippi syndrome", "equivalent_identifiers": ["MONDO:0010092", "DOID:0112194", "OMIM:272440", "orphanet:3255", "UMLS:C0795940", "MESH:C538152", "MEDDRA:10083943", "SNOMEDCT:720954000", "medgen:163197", "icd11.foundation:1989471300"], "information_content": 100.0}
{"id": "UniProtKB:Q70EL4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 43 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q70EL4-1", "PR:Q70EL4-1", "ENSEMBL:ENSP00000285199", "ENSEMBL:ENSP00000285199.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-6B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRW1-1", "PR:Q9NRW1-1", "ENSEMBL:ENSP00000285208", "ENSEMBL:ENSP00000285208.4", "ENSEMBL:ENSP00000437797", "ENSEMBL:ENSP00000437797.1"], "information_content": 100.0}
{"id": "UniProtKB:O15438-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family C member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15438-1", "PR:O15438-1", "ENSEMBL:ENSP00000285238", "ENSEMBL:ENSP00000285238.8"], "information_content": 100.0}
{"id": "UniProtKB:Q96AW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WW domain binding protein VOPP1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AW1-1", "PR:Q96AW1-1", "ENSEMBL:ENSP00000285279", "ENSEMBL:ENSP00000285279.5"], "information_content": 100.0}
{"id": "NCBIGene:51373", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPS17", "equivalent_identifiers": ["NCBIGene:51373", "ENSEMBL:ENSG00000239789", "HGNC:14047", "OMIM:611980", "UMLS:C1422371", "UniProtKB:Q9Y2R5", "PR:Q9Y2R5", "ENSEMBL:ENSP00000285298", "ENSEMBL:ENSP00000285298.4"], "information_content": 95.4}
{"id": "NCBIGene:27123", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DKK2", "equivalent_identifiers": ["NCBIGene:27123", "ENSEMBL:ENSG00000155011", "HGNC:2892", "OMIM:605415", "UMLS:C1414058", "UniProtKB:Q9UBU2", "PR:Q9UBU2", "ENSEMBL:ENSP00000285311", "ENSEMBL:ENSP00000285311.3", "UMLS:C1436812", "UMLS:C3816453", "MESH:C498622"], "information_content": 92.8}
{"id": "NCBIGene:760", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CA2", "equivalent_identifiers": ["NCBIGene:760", "ENSEMBL:ENSG00000104267", "HGNC:1373", "OMIM:611492", "UMLS:C1413043", "UniProtKB:P00918", "PR:P00918", "ENSEMBL:ENSP00000285379", "ENSEMBL:ENSP00000285379.4", "UMLS:C5196589", "MESH:C000629674", "UniProtKB:V9HW21"], "information_content": 81.3}
{"id": "NCBIGene:761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CA3", "equivalent_identifiers": ["NCBIGene:761", "ENSEMBL:ENSG00000164879", "HGNC:1374", "OMIM:114750", "UMLS:C1413044", "UniProtKB:P07451", "PR:P07451", "ENSEMBL:ENSP00000285381", "ENSEMBL:ENSP00000285381.2", "UMLS:C5848957"], "information_content": 85.5}
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{"id": "NCBIGene:245972", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP6V0D2", "equivalent_identifiers": ["NCBIGene:245972", "ENSEMBL:ENSG00000147614", "HGNC:18266", "OMIM:618072", "UMLS:C1425406", "UniProtKB:Q8N8Y2", "PR:Q8N8Y2", "ENSEMBL:ENSP00000285393", "ENSEMBL:ENSP00000285393.3", "UMLS:C2744665", "MESH:C545897"], "information_content": 92.8}
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{"id": "UniProtKB:Q9NSI8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SAM domain-containing protein SAMSN-1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSI8-3", "PR:Q9NSI8-3", "ENSEMBL:ENSP00000285670", "ENSEMBL:ENSP00000285670.2"], "information_content": 100.0}
{"id": "MONDO:0013349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALG11-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013349", "DOID:0080567", "OMIM:613661", "orphanet:280071", "UMLS:C3150913", "SNOMEDCT:733085004", "medgen:462263"], "information_content": 100.0}
{"id": "UniProtKB:Q6PH81-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UPF0547 protein C16orf87 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PH81-1", "PR:Q6PH81-1", "ENSEMBL:ENSP00000285697", "ENSEMBL:ENSP00000285697.4"], "information_content": 100.0}
{"id": "MONDO:0013594", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 36", "equivalent_identifiers": ["MONDO:0013594", "DOID:0050983", "OMIM:614153", "orphanet:276198", "UMLS:C3472711", "NCIT:C148316", "SNOMEDCT:711158005", "medgen:483339", "icd11.foundation:1544814018"], "information_content": 100.0}
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{"id": "UniProtKB:Q86WA8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Lon protease homolog 2, peroxisomal isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WA8-1", "PR:Q86WA8-1", "ENSEMBL:ENSP00000285737", "ENSEMBL:ENSP00000285737.4"], "information_content": 100.0}
{"id": "UniProtKB:Q86UV6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 74 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UV6-1", "PR:Q86UV6-1", "ENSEMBL:ENSP00000285805", "ENSEMBL:ENSP00000285805.3"], "information_content": 100.0}
{"id": "NCBIGene:84365", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NIFK", "equivalent_identifiers": ["NCBIGene:84365", "ENSEMBL:ENSG00000155438", "HGNC:17838", "OMIM:611970", "UMLS:C1425119", "UniProtKB:Q9BYG3", "PR:Q9BYG3", "ENSEMBL:ENSP00000285814", "ENSEMBL:ENSP00000285814.4", "UMLS:C1432847", "MESH:C492406"], "information_content": 92.8}
{"id": "NCBIGene:5018", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OXA1L", "equivalent_identifiers": ["NCBIGene:5018", "ENSEMBL:ENSG00000155463", "HGNC:8526", "OMIM:601066", "UMLS:C1418206", "UniProtKB:J3KNA0", "ENSEMBL:ENSP00000285848", "ENSEMBL:ENSP00000285848.5", "UMLS:C0663009", "UniProtKB:Q15070", "PR:Q15070", "UniProtKB:Q2M1J6"]}
{"id": "MONDO:0030017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 43", "equivalent_identifiers": ["MONDO:0030017", "DOID:0112116", "OMIM:618851", "UMLS:C5394284", "medgen:1718250"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYE0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 146 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYE0-1", "PR:Q8IYE0-1", "ENSEMBL:ENSP00000285871", "ENSEMBL:ENSP00000285871.4"], "information_content": 100.0}
{"id": "NCBIGene:25929", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GEMIN5", "equivalent_identifiers": ["NCBIGene:25929", "ENSEMBL:ENSG00000082516", "HGNC:20043", "OMIM:607005", "UMLS:C1426633", "UniProtKB:B7ZLC9", "UMLS:C1432444", "MESH:C449808", "UniProtKB:Q58EZ8", "UniProtKB:Q8TEQ6", "PR:Q8TEQ6", "ENSEMBL:ENSP00000285873", "ENSEMBL:ENSP00000285873.6"], "information_content": 89.4}
{"id": "UniProtKB:O60732-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanoma-associated antigen C1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60732-1", "PR:O60732-1", "ENSEMBL:ENSP00000285879", "ENSEMBL:ENSP00000285879.4"], "information_content": 100.0}
{"id": "MONDO:0004805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukocyte disorder", "equivalent_identifiers": ["MONDO:0004805", "DOID:9500", "UMLS:C0023510", "MESH:D007960", "MEDDRA:10013112", "MEDDRA:10045761", "MEDDRA:10047953", "MEDDRA:10047954", "MEDDRA:10061414", "SNOMEDCT:54097007", "medgen:7325", "ICD10:D72.9", "ICD9:288"], "information_content": 61.2}
{"id": "NCBIGene:136332", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRGUK", "equivalent_identifiers": ["NCBIGene:136332", "ENSEMBL:ENSG00000155530", "HGNC:21964", "OMIM:616478", "UMLS:C1825873", "UniProtKB:A0A2R8YEJ5", "ENSEMBL:ENSP00000495637", "ENSEMBL:ENSP00000495637.1", "UniProtKB:A0A8Q3SI13", "ENSEMBL:ENSP00000511999", "ENSEMBL:ENSP00000511999.1", "UniProtKB:Q96M69", "PR:Q96M69", "ENSEMBL:ENSP00000285928", "ENSEMBL:ENSP00000285928.2", "UMLS:C4077537", "MESH:C000603419"], "information_content": 100.0}
{"id": "NCBIGene:231", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AKR1B1", "equivalent_identifiers": ["NCBIGene:231", "ENSEMBL:ENSG00000085662", "HGNC:381", "OMIM:103880", "UMLS:C1412322", "UniProtKB:P15121", "PR:P15121", "ENSEMBL:ENSP00000285930", "ENSEMBL:ENSP00000285930.3", "UMLS:C1436327", "MESH:C484670"], "information_content": 87.2}
{"id": "NCBIGene:23165", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUP205", "equivalent_identifiers": ["NCBIGene:23165", "ENSEMBL:ENSG00000155561", "HGNC:18658", "OMIM:614352", "UMLS:C1425685", "UniProtKB:Q92621", "PR:Q92621", "ENSEMBL:ENSP00000285968", "ENSEMBL:ENSP00000285968.6"], "information_content": 84.2}
{"id": "UniProtKB:P33260-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 2C18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P33260-1", "PR:P33260-1", "ENSEMBL:ENSP00000285979", "ENSEMBL:ENSP00000285979.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSG2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FIGNL1-interacting regulator of recombination and mitosis isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSG2-1", "PR:Q9NSG2-1", "ENSEMBL:ENSP00000286031", "ENSEMBL:ENSP00000286031.6", "ENSEMBL:ENSP00000352276", "ENSEMBL:ENSP00000352276.4"], "information_content": 100.0}
{"id": "MONDO:0000239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adiaspiromycosis", "equivalent_identifiers": ["MONDO:0000239", "DOID:0050072", "UMLS:C0259737", "MESH:C000656784", "SNOMEDCT:23892008", "medgen:537148"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCR9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCR9-1", "PR:Q9HCR9-1", "ENSEMBL:ENSP00000286063", "ENSEMBL:ENSP00000286063.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUH3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 45 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUH3-3", "PR:Q8IUH3-3", "ENSEMBL:ENSP00000286070", "ENSEMBL:ENSP00000286070.5"], "information_content": 100.0}
{"id": "UniProtKB:Q92851-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase-10 isoform D (human)", "equivalent_identifiers": ["UniProtKB:Q92851-4", "PR:Q92851-4", "ENSEMBL:ENSP00000286186", "ENSEMBL:ENSP00000286186.6"], "information_content": 100.0}
{"id": "NCBIGene:8324", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FZD7", "equivalent_identifiers": ["NCBIGene:8324", "ENSEMBL:ENSG00000155760", "HGNC:4045", "OMIM:603410", "UMLS:C1333588", "UniProtKB:O75084", "PR:O75084", "ENSEMBL:ENSP00000286201", "ENSEMBL:ENSP00000286201.1", "UMLS:C1259399", "MESH:C115810"], "information_content": 92.8}
{"id": "UniProtKB:Q8TB45-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DEP domain-containing mTOR-interacting protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TB45-1", "PR:Q8TB45-1", "ENSEMBL:ENSP00000286234", "ENSEMBL:ENSP00000286234.5"], "information_content": 100.0}
{"id": "NCBIGene:1836", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC26A2", "equivalent_identifiers": ["NCBIGene:1836", "ENSEMBL:ENSG00000155850", "HGNC:10994", "OMIM:606718", "UMLS:C1420162", "UniProtKB:P50443", "PR:P50443", "ENSEMBL:ENSP00000286298", "ENSEMBL:ENSP00000286298.4", "UMLS:C0289153", "MESH:C089651"], "information_content": 95.4}
{"id": "MONDO:0010367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SHOX-related short stature", "equivalent_identifiers": ["MONDO:0010367", "DOID:0112120", "OMIM:300582", "orphanet:314795", "UMLS:C1845118", "UMLS:C4706613", "MESH:C564479", "SNOMEDCT:763868006", "medgen:375584"], "information_content": 100.0}
{"id": "UniProtKB:P07333-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "macrophage colony-stimulating factor 1 receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P07333-1", "PR:P07333-1", "ENSEMBL:ENSP00000286301", "ENSEMBL:ENSP00000286301.3", "ENSEMBL:ENSP00000501699", "ENSEMBL:ENSP00000501699.1"], "information_content": 100.0}
{"id": "MONDO:0002399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tenosynovial giant cell tumor, localized type", "equivalent_identifiers": ["MONDO:0002399", "DOID:2701", "UMLS:C0588125", "MEDDRA:10082904", "NCIT:C6532", "SNOMEDCT:703702007", "SNOMEDCT:95413004", "medgen:154413"], "information_content": 100.0}
{"id": "NCBIGene:134353", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LSM11", "equivalent_identifiers": ["NCBIGene:134353", "ENSEMBL:ENSG00000155858", "HGNC:30860", "OMIM:617910", "UMLS:C1537621", "UniProtKB:P83369", "PR:P83369", "ENSEMBL:ENSP00000286307", "ENSEMBL:ENSP00000286307.5", "UMLS:C1689317", "MESH:C506080"], "information_content": 95.4}
{"id": "MONDO:0100105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain small vessel disease 3", "equivalent_identifiers": ["MONDO:0100105", "DOID:0112315", "OMIM:618360", "EFO:0008493", "UMLS:C2733158", "UMLS:C5193053", "MESH:D059345", "MEDDRA:10067466", "MEDDRA:10086408", "SNOMEDCT:443929000", "medgen:1677948"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWZ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 42 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWZ5-1", "PR:Q8IWZ5-1", "ENSEMBL:ENSP00000286349", "ENSEMBL:ENSP00000286349.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TE99-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-phosphoxylose phosphatase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TE99-1", "PR:Q8TE99-1", "ENSEMBL:ENSP00000286353", "ENSEMBL:ENSP00000286353.4", "ENSEMBL:ENSP00000376733", "ENSEMBL:ENSP00000376733.2"], "information_content": 100.0}
{"id": "MONDO:0010075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures", "equivalent_identifiers": ["MONDO:0010075", "DOID:0112198", "OMIM:271640", "orphanet:642099", "UMLS:C4017377", "SNOMEDCT:1286833006", "medgen:865814"], "information_content": 100.0}
{"id": "NCBIGene:114", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADCY8", "equivalent_identifiers": ["NCBIGene:114", "ENSEMBL:ENSG00000155897", "HGNC:239", "OMIM:103070", "UMLS:C1412227", "UniProtKB:A0A0K0K1K3", "UMLS:C2742285", "UniProtKB:P40145", "PR:P40145", "ENSEMBL:ENSP00000286355", "ENSEMBL:ENSP00000286355.5", "UniProtKB:Q4F7X0"], "information_content": 100.0}
{"id": "UniProtKB:Q15283-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras GTPase-activating protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15283-2", "PR:Q15283-2", "ENSEMBL:ENSP00000286364", "ENSEMBL:ENSP00000286364.3"], "information_content": 100.0}
{"id": "UniProtKB:P54709-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/potassium-transporting ATPase subunit beta-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P54709-1", "PR:P54709-1", "ENSEMBL:ENSP00000286371", "ENSEMBL:ENSP00000286371.3"], "information_content": 100.0}
{"id": "NCBIGene:51643", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMBIM4", "equivalent_identifiers": ["NCBIGene:51643", "ENSEMBL:ENSG00000155957", "HGNC:24257", "OMIM:616874", "UMLS:C1823290", "UniProtKB:G3V1M2", "ENSEMBL:ENSP00000441291", "ENSEMBL:ENSP00000441291.2", "UMLS:C1872409", "MESH:C518281", "UniProtKB:G3XAA5", "ENSEMBL:ENSP00000286424", "ENSEMBL:ENSP00000286424.9", "UniProtKB:Q7Z782", "ENSEMBL:ENSP00000488909", "ENSEMBL:ENSP00000488909.1", "UniProtKB:Q9HC24", "PR:Q9HC24", "ENSEMBL:ENSP00000350965", "ENSEMBL:ENSP00000350965.3"]}
{"id": "UniProtKB:P61758-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prefoldin subunit 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P61758-1", "PR:P61758-1", "ENSEMBL:ENSP00000286428", "ENSEMBL:ENSP00000286428.5"], "information_content": 100.0}
{"id": "NCBIGene:10", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAT2", "equivalent_identifiers": ["NCBIGene:10", "ENSEMBL:ENSG00000156006", "HGNC:7646", "OMIM:612182", "UMLS:C0796518", "UniProtKB:A4Z6T7", "UniProtKB:A9X7Q9", "UniProtKB:P11245", "PR:P11245", "ENSEMBL:ENSP00000286479", "ENSEMBL:ENSP00000286479.3", "UMLS:C1261253", "MESH:C478900"], "information_content": 95.4}
{"id": "NCBIGene:91748", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MIDEAS", "equivalent_identifiers": ["NCBIGene:91748", "ENSEMBL:ENSG00000156030", "HGNC:19853", "OMIM:621074", "UMLS:C1426480", "UniProtKB:A0A1C7CYX1", "ENSEMBL:ENSP00000407767", "ENSEMBL:ENSP00000407767.2", "UMLS:C4042079", "MESH:C000598190", "UniProtKB:Q6PJG2", "PR:Q6PJG2", "ENSEMBL:ENSP00000286523", "ENSEMBL:ENSP00000286523.5", "ENSEMBL:ENSP00000377634", "ENSEMBL:ENSP00000377634.2"], "information_content": 92.8}
{"id": "MONDO:0011401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease without neurofibrillary tangles", "equivalent_identifiers": ["MONDO:0011401", "DOID:0110048", "OMIM:604154", "UMLS:C1858751", "UMLS:C1970143", "MESH:C536599", "MESH:C566998", "medgen:346983"], "information_content": 100.0}
{"id": "NCBIGene:2776", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNAQ", "equivalent_identifiers": ["NCBIGene:2776", "ENSEMBL:ENSG00000156052", "HGNC:4390", "OMIM:600998", "UMLS:C1333685", "UniProtKB:A0A024R240", "UMLS:C2975446", "MESH:C554061", "UniProtKB:P50148", "PR:P50148", "ENSEMBL:ENSP00000286548", "ENSEMBL:ENSP00000286548.4", "UMLS:C1333650"], "information_content": 100.0}
{"id": "MONDO:0100342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant glioma", "equivalent_identifiers": ["MONDO:0100342", "DOID:3070", "UMLS:C0555198", "MEDDRA:10018335", "MEDDRA:10065443", "NCIT:C4822", "medgen:107826", "KEGG.DISEASE:05214"], "information_content": 64.9}
{"id": "NCBIGene:11197", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WIF1", "equivalent_identifiers": ["NCBIGene:11197", "ENSEMBL:ENSG00000156076", "HGNC:18081", "OMIM:605186", "UMLS:C1425289", "UniProtKB:Q9Y5W5", "PR:Q9Y5W5", "ENSEMBL:ENSP00000286574", "ENSEMBL:ENSP00000286574.4", "UMLS:C1435116", "UMLS:C3275255", "MESH:C485569"], "information_content": 92.8}
{"id": "UniProtKB:P51512-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "matrix metalloproteinase-16 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P51512-1", "PR:P51512-1", "ENSEMBL:ENSP00000286614", "ENSEMBL:ENSP00000286614.6"], "information_content": 100.0}
{"id": "UniProtKB:Q12791-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-activated potassium channel subunit alpha-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12791-1", "PR:Q12791-1", "ENSEMBL:ENSP00000286628", "ENSEMBL:ENSP00000286628.8"], "information_content": 100.0}
{"id": "NCBIGene:10538", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BATF", "equivalent_identifiers": ["NCBIGene:10538", "ENSEMBL:ENSG00000156127", "HGNC:958", "OMIM:612476", "UMLS:C1412740", "UniProtKB:Q16520", "PR:Q16520", "ENSEMBL:ENSP00000286639", "ENSEMBL:ENSP00000286639.6", "UMLS:C0384982", "MESH:C099359"], "information_content": 100.0}
{"id": "NCBIGene:1633", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCK", "equivalent_identifiers": ["NCBIGene:1633", "ENSEMBL:ENSG00000156136", "HGNC:2704", "OMIM:125450", "UMLS:C1333205", "UniProtKB:B4E0A5", "UniProtKB:F5CTF3", "UniProtKB:P27707", "PR:P27707", "ENSEMBL:ENSP00000286648", "ENSEMBL:ENSP00000286648.5", "UMLS:C5441698"], "information_content": 92.8}
{"id": "NCBIGene:9508", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAMTS3", "equivalent_identifiers": ["NCBIGene:9508", "ENSEMBL:ENSG00000156140", "HGNC:219", "OMIM:605011", "UMLS:C1412209", "UniProtKB:B7Z2U9", "UMLS:C1097057", "MESH:C434951", "UniProtKB:O15072", "PR:O15072", "ENSEMBL:ENSP00000286657", "ENSEMBL:ENSP00000286657.4", "UniProtKB:Q96AY5"], "information_content": 100.0}
{"id": "NCBIGene:157657", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP418", "equivalent_identifiers": ["NCBIGene:157657", "ENSEMBL:ENSG00000156172", "HGNC:27232", "OMIM:614477", "UMLS:C1824246", "UniProtKB:Q96NL8", "PR:Q96NL8", "ENSEMBL:ENSP00000286688", "ENSEMBL:ENSP00000286688.5", "UMLS:C3490694", "MESH:C570604"], "information_content": 100.0}
{"id": "MONDO:0009301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 7", "equivalent_identifiers": ["MONDO:0009301", "DOID:0111774", "OMIM:233420", "UMLS:C1856273", "MESH:C565537", "medgen:383876"], "information_content": 100.0}
{"id": "MONDO:0008518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "calcaneonavicular coalition", "equivalent_identifiers": ["MONDO:0008518", "DOID:14762", "OMIM:186400", "UMLS:C1876184", "MESH:C538156", "SNOMEDCT:62628008", "medgen:360296"], "information_content": 100.0}
{"id": "NCBIGene:128338", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRAM2", "equivalent_identifiers": ["NCBIGene:128338", "ENSEMBL:ENSG00000156171", "HGNC:28769", "OMIM:613360", "UMLS:C1823338", "UniProtKB:Q6UX65", "PR:Q6UX65", "ENSEMBL:ENSP00000286692", "ENSEMBL:ENSP00000286692.4", "ENSEMBL:ENSP00000437718", "ENSEMBL:ENSP00000437718.1", "ENSEMBL:ENSP00000503400", "ENSEMBL:ENSP00000503400.1", "UMLS:C2742260", "MESH:C544299"], "information_content": 95.4}
{"id": "MONDO:0001451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripheral retinal degeneration", "equivalent_identifiers": ["MONDO:0001451", "DOID:12161", "UMLS:C1320640", "MEDDRA:10034616", "NCIT:C34919", "SNOMEDCT:405721006", "SNOMEDCT:61536007", "medgen:232938", "icd11.foundation:1518234440", "ICD10:H35.4", "ICD9:362.6", "HP:0007769"], "information_content": 87.2}
{"id": "UniProtKB:P27105-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stomatin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P27105-1", "PR:P27105-1", "ENSEMBL:ENSP00000286713", "ENSEMBL:ENSP00000286713.2"], "information_content": 100.0}
{"id": "UniProtKB:O14830-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase with EF-hands 2 isoform hPPEF-2(L) (human)", "equivalent_identifiers": ["UniProtKB:O14830-1", "PR:O14830-1", "ENSEMBL:ENSP00000286719", "ENSEMBL:ENSP00000286719.6"], "information_content": 100.0}
{"id": "UniProtKB:Q6P656-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 161 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P656-1", "PR:Q6P656-1", "ENSEMBL:ENSP00000286732", "ENSEMBL:ENSP00000286732.4"], "information_content": 100.0}
{"id": "UniProtKB:Q02083-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acylethanolamine-hydrolyzing acid amidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02083-1", "PR:Q02083-1", "ENSEMBL:ENSP00000286733", "ENSEMBL:ENSP00000286733.4", "ENSEMBL:ENSP00000520730", "ENSEMBL:ENSP00000520730.1"], "information_content": 100.0}
{"id": "MONDO:0011588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 12", "equivalent_identifiers": ["MONDO:0011588", "DOID:0111058", "OMIM:605735", "UMLS:C2751535", "MESH:C567786", "medgen:414043"], "information_content": 100.0}
{"id": "MONDO:0014693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 10", "equivalent_identifiers": ["MONDO:0014693", "DOID:0060588", "OMIM:616564", "UMLS:C4225280", "NCIT:C176938", "medgen:902892"], "information_content": 100.0}
{"id": "UniProtKB:P82987-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADAMTS-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P82987-1", "PR:P82987-1", "ENSEMBL:ENSP00000286744", "ENSEMBL:ENSP00000286744.5", "ENSEMBL:ENSP00000517111", "ENSEMBL:ENSP00000517111.1"], "information_content": 100.0}
{"id": "MONDO:0013430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome 3", "equivalent_identifiers": ["MONDO:0013430", "DOID:0080514", "OMIM:613803", "UMLS:C3151113", "medgen:462463"], "information_content": 100.0}
{"id": "NCBIGene:10563", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCL13", "equivalent_identifiers": ["NCBIGene:10563", "ENSEMBL:ENSG00000156234", "HGNC:10639", "OMIM:605149", "UMLS:C1366572", "UniProtKB:O43927", "PR:O43927", "ENSEMBL:ENSP00000286758", "ENSEMBL:ENSP00000286758.4", "ENSEMBL:ENSP00000507688", "ENSEMBL:ENSP00000507688.1", "UMLS:C0963811", "MESH:C110663", "UniProtKB:Q53X90"], "information_content": 90.9}
{"id": "NCBIGene:123720", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WHAMM", "equivalent_identifiers": ["NCBIGene:123720", "ENSEMBL:ENSG00000156232", "HGNC:30493", "OMIM:612393", "UMLS:C1823852", "UniProtKB:Q8TF30", "PR:Q8TF30", "ENSEMBL:ENSP00000286760", "ENSEMBL:ENSP00000286760.4", "UMLS:C3658032", "MESH:C578123"], "information_content": 100.0}
{"id": "UniProtKB:P50990-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-complex protein 1 subunit theta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50990-1", "PR:P50990-1", "ENSEMBL:ENSP00000286788", "ENSEMBL:ENSP00000286788.4", "ENSEMBL:ENSP00000517017", "ENSEMBL:ENSP00000517017.1"], "information_content": 100.0}
{"id": "NCBIGene:84779", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAA11", "equivalent_identifiers": ["NCBIGene:84779", "ENSEMBL:ENSG00000156269", "HGNC:28125", "OMIM:619432", "UMLS:C1538919", "UniProtKB:Q9BSU3", "PR:Q9BSU3", "ENSEMBL:ENSP00000286794", "ENSEMBL:ENSP00000286794.4", "UMLS:C1722741", "MESH:C511250"], "information_content": 100.0}
{"id": "MONDO:0007055", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acromicric dysplasia", "equivalent_identifiers": ["MONDO:0007055", "DOID:0111243", "OMIM:102370", "orphanet:969", "UMLS:C0265287", "MESH:C535662", "MEDDRA:10083854", "SNOMEDCT:254090007", "medgen:78549", "icd11.foundation:1006372687"], "information_content": 100.0}
{"id": "MONDO:0010704", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otopalatodigital syndrome type 1", "equivalent_identifiers": ["MONDO:0010704", "DOID:0111783", "OMIM:311300", "orphanet:90650", "UMLS:C0265251", "UMLS:C2748919", "MESH:C536065", "MESH:C567578", "MEDDRA:10084422", "NCIT:C118845", "SNOMEDCT:54036001", "medgen:78542", "icd11.foundation:1442049882"], "information_content": 100.0}
{"id": "MONDO:0003296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cellular leiomyoma", "equivalent_identifiers": ["MONDO:0003296", "DOID:5139", "UMLS:C0334477", "NCIT:C4256", "SNOMEDCT:754555501000119102", "SNOMEDCT:90955001", "medgen:83155"], "information_content": 95.4}
{"id": "UniProtKB:Q13009-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor TIAM1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13009-1", "PR:Q13009-1", "ENSEMBL:ENSP00000286827", "ENSEMBL:ENSP00000286827.3", "ENSEMBL:ENSP00000441570", "ENSEMBL:ENSP00000441570.2"], "information_content": 100.0}
{"id": "UniProtKB:O95104-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SR-related and CTD-associated factor 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95104-1", "PR:O95104-1", "ENSEMBL:ENSP00000286835", "ENSEMBL:ENSP00000286835.7"], "information_content": 100.0}
{"id": "MONDO:0007124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome", "equivalent_identifiers": ["MONDO:0007124", "DOID:0090119", "OMIM:106260", "orphanet:1071", "UMLS:C0406709", "MESH:C535847", "MEDDRA:10080940", "MEDDRA:10083875", "MEDDRA:10083887", "NCIT:C157576", "SNOMEDCT:55821006", "medgen:98032"], "information_content": 95.4}
{"id": "NCBIGene:122416", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD9", "equivalent_identifiers": ["NCBIGene:122416", "ENSEMBL:ENSG00000156381", "HGNC:20096", "OMIM:618605", "UMLS:C1426680", "UniProtKB:Q96BM1", "PR:Q96BM1", "ENSEMBL:ENSP00000286918", "ENSEMBL:ENSP00000286918.4", "ENSEMBL:ENSP00000453650", "ENSEMBL:ENSP00000453650.1", "ENSEMBL:ENSP00000454100", "ENSEMBL:ENSP00000454100.1", "UMLS:C5197158", "MESH:C000631244"], "information_content": 100.0}
{"id": "UniProtKB:P51993-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51993-1", "PR:P51993-1", "ENSEMBL:ENSP00000286955", "ENSEMBL:ENSP00000286955.5", "ENSEMBL:ENSP00000313398", "ENSEMBL:ENSP00000313398.4", "ENSEMBL:ENSP00000431708", "ENSEMBL:ENSP00000431708.1", "ENSEMBL:ENSP00000432954", "ENSEMBL:ENSP00000432954.1"], "information_content": 100.0}
{"id": "UniProtKB:Q08174-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q08174-2", "PR:Q08174-2", "ENSEMBL:ENSP00000287008", "ENSEMBL:ENSP00000287008.3"], "information_content": 100.0}
{"id": "MONDO:0005784", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hantavirus hemorrhagic fever with renal syndrome", "equivalent_identifiers": ["MONDO:0005784", "DOID:11266", "NCIT:C84753", "SNOMEDCT:102455002", "ICD10:A98.5", "ICD9:078.6"], "information_content": 89.4}
{"id": "MONDO:0004596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cor pulmonale", "equivalent_identifiers": ["MONDO:0004596", "DOID:8515", "UMLS:C0034072", "MESH:D011660", "MEDDRA:10010968", "MEDDRA:10010971", "MEDDRA:10013106", "MEDDRA:10019275", "NCIT:C196110", "SNOMEDCT:274096000", "SNOMEDCT:83291003", "medgen:18765", "icd11.foundation:738218522", "ICD10:I27.81", "HP:0001648"], "information_content": 88.2}
{"id": "NCBIGene:392255", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GDF6", "equivalent_identifiers": ["NCBIGene:392255", "ENSEMBL:ENSG00000156466", "HGNC:4221", "OMIM:601147", "UMLS:C1415036", "UniProtKB:A0A0S2A5D6", "UMLS:C2003607", "MESH:C525906", "UniProtKB:Q6KF10", "PR:Q6KF10", "ENSEMBL:ENSP00000287020", "ENSEMBL:ENSP00000287020.4"], "information_content": 100.0}
{"id": "MONDO:0017987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syringomyelia", "equivalent_identifiers": ["MONDO:0017987", "DOID:327", "orphanet:3280", "UMLS:C0039144", "UMLS:C1522522", "MESH:D013595", "MEDDRA:10042928", "NCIT:C85179", "SNOMEDCT:111496009", "medgen:21449", "icd11.foundation:1161887622", "HP:0003396"], "information_content": 88.2}
{"id": "UniProtKB:Q96E29-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription termination factor 3, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96E29-1", "PR:Q96E29-1", "ENSEMBL:ENSP00000287025", "ENSEMBL:ENSP00000287025.3"], "information_content": 100.0}
{"id": "NCBIGene:3788", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNS2", "equivalent_identifiers": ["NCBIGene:3788", "ENSEMBL:ENSG00000156486", "HGNC:6301", "OMIM:602906", "UMLS:C1416619", "UniProtKB:Q9ULS6", "PR:Q9ULS6", "ENSEMBL:ENSP00000287042", "ENSEMBL:ENSP00000287042.4", "ENSEMBL:ENSP00000430712", "ENSEMBL:ENSP00000430712.1", "UMLS:C4508398", "MESH:C000621465"], "information_content": 95.4}
{"id": "MONDO:0011773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anauxetic dysplasia", "equivalent_identifiers": ["MONDO:0011773", "DOID:0080942", "OMIM.PS:607095", "orphanet:93347", "UMLS:C1846796", "MESH:C538256", "SNOMEDCT:764460003", "medgen:375972", "icd11.foundation:1897630209"], "information_content": 90.9}
{"id": "UniProtKB:Q2T9J0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal leader peptide-processing protease isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2T9J0-1", "PR:Q2T9J0-1", "ENSEMBL:ENSP00000287078", "ENSEMBL:ENSP00000287078.6"], "information_content": 100.0}
{"id": "MONDO:0012445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 59", "equivalent_identifiers": ["MONDO:0012445", "DOID:0110511", "OMIM:610220", "UMLS:C1857744", "MESH:C565698", "medgen:387899"], "information_content": 100.0}
{"id": "MONDO:0009919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisomal acyl-CoA oxidase deficiency", "equivalent_identifiers": ["MONDO:0009919", "DOID:0050797", "OMIM:264470", "orphanet:2971", "UMLS:C1849678", "MESH:C536662", "NCIT:C170437", "SNOMEDCT:238069004", "medgen:376636", "icd11.foundation:927825451"], "information_content": 100.0}
{"id": "UniProtKB:Q6YHK3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD109 antigen isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6YHK3-1", "PR:Q6YHK3-1", "ENSEMBL:ENSP00000287097", "ENSEMBL:ENSP00000287097.4"], "information_content": 100.0}
{"id": "NCBIGene:4838", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NODAL", "equivalent_identifiers": ["NCBIGene:4838", "ENSEMBL:ENSG00000156574", "HGNC:7865", "OMIM:601265", "UMLS:C1417752", "UniProtKB:Q96S42", "PR:Q96S42", "ENSEMBL:ENSP00000287139", "ENSEMBL:ENSP00000287139.3", "UMLS:C1568997", "UMLS:C3272515", "MESH:C526007"], "information_content": 90.9}
{"id": "UniProtKB:Q6ZMV9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMV9-1", "PR:Q6ZMV9-1", "ENSEMBL:ENSP00000287152", "ENSEMBL:ENSP00000287152.7"], "information_content": 100.0}
{"id": "UniProtKB:O14933-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin/ISG15-conjugating enzyme E2 L6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14933-1", "PR:O14933-1", "ENSEMBL:ENSP00000287156", "ENSEMBL:ENSP00000287156.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0B5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyltransferase ZDHHC5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0B5-1", "PR:Q9C0B5-1", "ENSEMBL:ENSP00000287169", "ENSEMBL:ENSP00000287169.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96J87-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CUGBP Elav-like family member 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96J87-1", "PR:Q96J87-1", "ENSEMBL:ENSP00000287202", "ENSEMBL:ENSP00000287202.5"], "information_content": 100.0}
{"id": "NCBIGene:60685", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFAND3", "equivalent_identifiers": ["NCBIGene:60685", "ENSEMBL:ENSG00000156639", "HGNC:18019", "OMIM:607455", "UMLS:C1823943", "UniProtKB:E2QRF5", "ENSEMBL:ENSP00000362489", "ENSEMBL:ENSP00000362489.2", "UniProtKB:Q9H8U3", "PR:Q9H8U3", "ENSEMBL:ENSP00000287218", "ENSEMBL:ENSP00000287218.4", "UMLS:C4743490", "MESH:C000629275"], "information_content": 89.4}
{"id": "UniProtKB:Q8WYB5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone acetyltransferase KAT6B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYB5-1", "PR:Q8WYB5-1", "ENSEMBL:ENSP00000287239", "ENSEMBL:ENSP00000287239.4", "ENSEMBL:ENSP00000486595", "ENSEMBL:ENSP00000486595.1", "ENSEMBL:ENSP00000497166", "ENSEMBL:ENSP00000497166.1", "ENSEMBL:ENSP00000497352", "ENSEMBL:ENSP00000497352.1", "ENSEMBL:ENSP00000497718", "ENSEMBL:ENSP00000497718.1", "ENSEMBL:ENSP00000497841", "ENSEMBL:ENSP00000497841.1"], "information_content": 100.0}
{"id": "UniProtKB:O95831-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptosis-inducing factor 1, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95831-1", "PR:O95831-1", "ENSEMBL:ENSP00000287295", "ENSEMBL:ENSP00000287295.3"], "information_content": 100.0}
{"id": "UniProtKB:O95429-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BAG family molecular chaperone regulator 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95429-1", "PR:O95429-1", "ENSEMBL:ENSP00000287322", "ENSEMBL:ENSP00000287322.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96HA8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein N-terminal glutamine amidohydrolase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HA8-1", "PR:Q96HA8-1", "ENSEMBL:ENSP00000287387", "ENSEMBL:ENSP00000287387.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6PL18-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATPase family AAA domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PL18-1", "PR:Q6PL18-1", "ENSEMBL:ENSP00000287394", "ENSEMBL:ENSP00000287394.5"], "information_content": 100.0}
{"id": "NCBIGene:286053", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NSMCE2", "equivalent_identifiers": ["NCBIGene:286053", "ENSEMBL:ENSG00000156831", "HGNC:26513", "OMIM:617246", "UMLS:C1826473", "UniProtKB:A0A087WTZ8", "ENSEMBL:ENSP00000478256", "ENSEMBL:ENSP00000478256.1", "ENSEMBL:ENSP00000481615", "ENSEMBL:ENSP00000481615.1", "UniProtKB:Q96MF7", "PR:Q96MF7", "ENSEMBL:ENSP00000287437", "ENSEMBL:ENSP00000287437.3", "ENSEMBL:ENSP00000430668", "ENSEMBL:ENSP00000430668.1", "UMLS:C1612005", "MESH:C503501"], "information_content": 95.4}
{"id": "NCBIGene:163786", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SASS6", "equivalent_identifiers": ["NCBIGene:163786", "ENSEMBL:ENSG00000156876", "HGNC:25403", "OMIM:609321", "UMLS:C1822613", "UniProtKB:B4DYM7", "UMLS:C1566414", "MESH:C497202", "UniProtKB:Q495U0", "UniProtKB:Q6UVJ0", "PR:Q6UVJ0", "ENSEMBL:ENSP00000287482", "ENSEMBL:ENSP00000287482.5"], "information_content": 100.0}
{"id": "MONDO:0014137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "precocious puberty, central, 2", "equivalent_identifiers": ["MONDO:0014137", "DOID:0112309", "OMIM:615346", "UMLS:C3809199", "MESH:C000726751", "medgen:815529"], "information_content": 100.0}
{"id": "NCBIGene:1339", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX6A2", "equivalent_identifiers": ["NCBIGene:1339", "ENSEMBL:ENSG00000156885", "HGNC:2279", "OMIM:602009", "UMLS:C1413648", "UniProtKB:Q02221", "PR:Q02221", "ENSEMBL:ENSP00000287490", "ENSEMBL:ENSP00000287490.4", "UMLS:C5552846", "MESH:C000730687"], "information_content": 92.8}
{"id": "UniProtKB:O60481-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein ZIC 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60481-1", "PR:O60481-1", "ENSEMBL:ENSP00000287538", "ENSEMBL:ENSP00000287538.5"], "information_content": 100.0}
{"id": "MONDO:0010989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mayer-Rokitansky-Küster-Hauser syndrome type 2", "equivalent_identifiers": ["MONDO:0010989", "DOID:0112179", "OMIM:601076", "orphanet:2578", "UMLS:C4305568", "SNOMEDCT:717705004", "medgen:931237", "icd11.foundation:1521808255"], "information_content": 100.0}
{"id": "NCBIGene:93010", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B3GNT7", "equivalent_identifiers": ["NCBIGene:93010", "ENSEMBL:ENSG00000156966", "HGNC:18811", "OMIM:615313", "UMLS:C1425794", "UniProtKB:Q8NFL0", "PR:Q8NFL0", "ENSEMBL:ENSP00000287590", "ENSEMBL:ENSP00000287590.5", "UMLS:C1313478", "MESH:C499227"], "information_content": 100.0}
{"id": "MONDO:0020682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1", "equivalent_identifiers": ["MONDO:0020682", "DOID:0080738", "OMIM:130070", "UMLS:C4552003", "medgen:1646889"], "information_content": 100.0}
{"id": "UniProtKB:O60566-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitotic checkpoint serine/threonine-protein kinase BUB1 beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60566-1", "PR:O60566-1", "ENSEMBL:ENSP00000287598", "ENSEMBL:ENSP00000287598.7"], "information_content": 95.4}
{"id": "NCBIGene:5147", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDE6D", "equivalent_identifiers": ["NCBIGene:5147", "ENSEMBL:ENSG00000156973", "HGNC:8788", "OMIM:602676", "UMLS:C1418428", "UniProtKB:B8ZZK5", "ENSEMBL:ENSP00000387108", "ENSEMBL:ENSP00000387108.1", "UMLS:C1454812", "MESH:C517432", "UniProtKB:O43924", "PR:O43924", "ENSEMBL:ENSP00000287600", "ENSEMBL:ENSP00000287600.4", "UniProtKB:Q6IB24"], "information_content": 92.8}
{"id": "NCBIGene:6750", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SST", "equivalent_identifiers": ["NCBIGene:6750", "ENSEMBL:ENSG00000157005", "HGNC:11329", "OMIM:182450", "UMLS:C1335871", "UniProtKB:P61278", "PR:P61278", "ENSEMBL:ENSP00000287641", "ENSEMBL:ENSP00000287641.3", "UMLS:C5197618", "MESH:C000633604"], "information_content": 95.4}
{"id": "UniProtKB:Q9BXW9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fanconi anemia group D2 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXW9-1", "PR:Q9BXW9-1", "ENSEMBL:ENSP00000287647", "ENSEMBL:ENSP00000287647.3"], "information_content": 100.0}
{"id": "NCBIGene:23420", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOMO1", "equivalent_identifiers": ["NCBIGene:23420", "ENSEMBL:ENSG00000103512", "HGNC:30060", "OMIM:609157", "UMLS:C1538477", "UniProtKB:Q15155", "PR:Q15155", "ENSEMBL:ENSP00000287667", "ENSEMBL:ENSP00000287667.7", "ENSEMBL:ENSP00000482008", "ENSEMBL:ENSP00000482008.1", "UMLS:C5433697", "MESH:C000711207"], "information_content": 84.2}
{"id": "MONDO:0012240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 23", "equivalent_identifiers": ["MONDO:0012240", "DOID:0110932", "OMIM:609285", "UMLS:C1836447", "MESH:C538351", "NCIT:C164225", "medgen:324513"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2C4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclease EXOG, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2C4-1", "PR:Q9Y2C4-1", "ENSEMBL:ENSP00000287675", "ENSEMBL:ENSP00000287675.5"], "information_content": 100.0}
{"id": "MONDO:0005181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive external ophthalmoplegia", "equivalent_identifiers": ["MONDO:0005181", "DOID:12558", "orphanet:520820", "EFO:0002509", "UMLS:C0162292", "UMLS:C0162674", "MESH:D017246", "MEDDRA:10015754", "MEDDRA:10015830", "MEDDRA:10030876", "MEDDRA:10033561", "MEDDRA:10036802", "MEDDRA:10069852", "SNOMEDCT:19373007", "SNOMEDCT:46252003", "medgen:102439", "icd11.foundation:1698427219", "ICD10:H49.4", "ICD9:378.72", "HP:0000544"], "information_content": 81.3}
{"id": "NCBIGene:123803", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NTAN1", "equivalent_identifiers": ["NCBIGene:123803", "ENSEMBL:ENSG00000157045", "HGNC:29909", "OMIM:615367", "UMLS:C1538494", "UniProtKB:A0A087X0T5", "ENSEMBL:ENSP00000481975", "ENSEMBL:ENSP00000481975.1", "ENSEMBL:ENSP00000483643", "ENSEMBL:ENSP00000483643.1", "ENSEMBL:ENSP00000485340", "ENSEMBL:ENSP00000485340.1", "UniProtKB:Q96AB6", "PR:Q96AB6", "ENSEMBL:ENSP00000287706", "ENSEMBL:ENSP00000287706.3", "ENSEMBL:ENSP00000484380", "ENSEMBL:ENSP00000484380.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9BZQ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZQ4-1", "PR:Q9BZQ4-1", "ENSEMBL:ENSP00000287713", "ENSEMBL:ENSP00000287713.6"], "information_content": 100.0}
{"id": "UniProtKB:O95405-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger FYVE domain-containing protein 9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95405-1", "PR:O95405-1", "ENSEMBL:ENSP00000287727", "ENSEMBL:ENSP00000287727.3", "ENSEMBL:ENSP00000360647", "ENSEMBL:ENSP00000360647.1"], "information_content": 100.0}
{"id": "UniProtKB:Q2TBA0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 40 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2TBA0-1", "PR:Q2TBA0-1", "ENSEMBL:ENSP00000287777", "ENSEMBL:ENSP00000287777.4"], "information_content": 100.0}
{"id": "NCBIGene:7079", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMP4", "equivalent_identifiers": ["NCBIGene:7079", "ENSEMBL:ENSG00000157150", "HGNC:11823", "OMIM:601915", "UMLS:C1420743", "UniProtKB:Q99727", "PR:Q99727", "ENSEMBL:ENSP00000287814", "ENSEMBL:ENSP00000287814.4", "UMLS:C1744090", "MESH:C000728017"], "information_content": 95.4}
{"id": "UniProtKB:P37231-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisome proliferator-activated receptor gamma isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P37231-1", "PR:P37231-1", "ENSEMBL:ENSP00000287820", "ENSEMBL:ENSP00000287820.6"], "information_content": 95.4}
{"id": "MONDO:0011565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metabolic syndrome X", "equivalent_identifiers": ["MONDO:0011565", "DOID:14221", "OMIM:605552", "EFO:0000195", "UMLS:C1854178", "UMLS:C1970051", "UMLS:C4552048", "MESH:D024821", "SNOMEDCT:237602007", "medgen:1640883", "ICD10:E88.81", "ICD9:277.7"], "information_content": 100.0}
{"id": "UniProtKB:Q02297-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuregulin-1 type I-beta1a (human)", "equivalent_identifiers": ["UniProtKB:Q02297-6", "PR:Q02297-6", "ENSEMBL:ENSP00000287842", "ENSEMBL:ENSP00000287842.4"], "information_content": 100.0}
{"id": "MONDO:0004938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dependence", "equivalent_identifiers": ["MONDO:0004938", "DOID:9973", "UMLS:C0038580", "UMLS:C0439857", "MEDDRA:10012335", "MEDDRA:10076595", "NCIT:C35458", "SNOMEDCT:103326000", "SNOMEDCT:1254812006", "SNOMEDCT:2403008", "SNOMEDCT:255338002", "medgen:20989"], "information_content": 80.9}
{"id": "UniProtKB:Q9UG63-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family F member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UG63-1", "PR:Q9UG63-1", "ENSEMBL:ENSP00000287844", "ENSEMBL:ENSP00000287844.2"], "information_content": 100.0}
{"id": "MONDO:0008146", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 1", "equivalent_identifiers": ["MONDO:0008146", "DOID:0110334", "OMIM:166200", "orphanet:216796", "UMLS:C0023931", "NCIT:C99003", "SNOMEDCT:385482004", "medgen:9799", "icd11.foundation:1897905410"], "information_content": 95.4}
{"id": "UniProtKB:Q5SWX8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein odr-4 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SWX8-1", "PR:Q5SWX8-1", "ENSEMBL:ENSP00000287859", "ENSEMBL:ENSP00000287859.6"], "information_content": 100.0}
{"id": "MONDO:0001774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior scleritis", "equivalent_identifiers": ["MONDO:0001774", "DOID:13676", "UMLS:C0155357", "MEDDRA:10036362", "SNOMEDCT:267660007", "medgen:509932", "icd11.foundation:982348440", "ICD10:H15.03", "ICD9:379.07"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGJ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5'-AMP-activated protein kinase subunit gamma-2 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9UGJ0-1", "PR:Q9UGJ0-1", "ENSEMBL:ENSP00000287878", "ENSEMBL:ENSP00000287878.3"], "information_content": 100.0}
{"id": "MONDO:0014525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 23", "equivalent_identifiers": ["MONDO:0014525", "DOID:0111500", "OMIM:616198", "orphanet:444013", "EFO:0009033", "UMLS:C5567743", "NCIT:C187986", "SNOMEDCT:1173036000", "medgen:1799166"], "information_content": 100.0}
{"id": "MONDO:0012859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 7", "equivalent_identifiers": ["MONDO:0012859", "DOID:0110946", "OMIM:612301", "orphanet:178389", "UMLS:C2676766", "MESH:C567354", "medgen:436770", "ICD10:Q78.2"], "information_content": 100.0}
{"id": "MONDO:0012676", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 4", "equivalent_identifiers": ["MONDO:0012676", "DOID:0110944", "OMIM:611490", "UMLS:C1969106", "MESH:C566933", "medgen:370598"], "information_content": 100.0}
{"id": "NCBIGene:3361", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTR5A", "equivalent_identifiers": ["NCBIGene:3361", "ENSEMBL:ENSG00000157219", "HGNC:5300", "OMIM:601305", "UMLS:C1415814", "UniProtKB:A4D2N2", "UniProtKB:P47898", "PR:P47898", "ENSEMBL:ENSP00000287907", "ENSEMBL:ENSP00000287907.2"], "information_content": 95.4}
{"id": "NCBIGene:9069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN12", "equivalent_identifiers": ["NCBIGene:9069", "ENSEMBL:ENSG00000157224", "HGNC:2034", "OMIM:611232", "UMLS:C1413462", "UniProtKB:B2R687", "UMLS:C2001884", "MESH:C522352", "UniProtKB:P56749", "PR:P56749", "ENSEMBL:ENSP00000287916", "ENSEMBL:ENSP00000287916.4", "ENSEMBL:ENSP00000378103", "ENSEMBL:ENSP00000378103.1", "ENSEMBL:ENSP00000419053", "ENSEMBL:ENSP00000419053.1"], "information_content": 95.4}
{"id": "NCBIGene:8321", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FZD1", "equivalent_identifiers": ["NCBIGene:8321", "ENSEMBL:ENSG00000157240", "HGNC:4038", "OMIM:603408", "UMLS:C1414886", "UniProtKB:Q9UP38", "PR:Q9UP38", "ENSEMBL:ENSP00000287934", "ENSEMBL:ENSP00000287934.2", "UMLS:C1454919", "MESH:C489740"], "information_content": 90.9}
{"id": "UniProtKB:P04035-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P04035-1", "PR:P04035-1", "ENSEMBL:ENSP00000287936", "ENSEMBL:ENSP00000287936.4", "ENSEMBL:ENSP00000426745", "ENSEMBL:ENSP00000426745.1", "ENSEMBL:ENSP00000505561", "ENSEMBL:ENSP00000505561.1", "ENSEMBL:ENSP00000505805", "ENSEMBL:ENSP00000505805.1", "ENSEMBL:ENSP00000506232", "ENSEMBL:ENSP00000506232.1"], "information_content": 100.0}
{"id": "NCBIGene:57798", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GATAD1", "equivalent_identifiers": ["NCBIGene:57798", "ENSEMBL:ENSG00000157259", "HGNC:29941", "OMIM:614518", "UMLS:C1539551", "UniProtKB:A0A2R8Y4H1", "ENSEMBL:ENSP00000493785", "ENSEMBL:ENSP00000493785.1", "UniProtKB:Q8WUU5", "PR:Q8WUU5", "ENSEMBL:ENSP00000287957", "ENSEMBL:ENSP00000287957.3", "UMLS:C1142875", "MESH:C464454"], "information_content": 100.0}
{"id": "NCBIGene:64768", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IPPK", "equivalent_identifiers": ["NCBIGene:64768", "ENSEMBL:ENSG00000127080", "HGNC:14645", "OMIM:619043", "UMLS:C1825614", "UniProtKB:Q9H8X2", "PR:Q9H8X2", "ENSEMBL:ENSP00000287996", "ENSEMBL:ENSP00000287996.3", "UniProtKB:X6R9A6", "ENSEMBL:ENSP00000364672", "ENSEMBL:ENSP00000364672.2"], "information_content": 95.4}
{"id": "UniProtKB:Q9BU02-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thiamine-triphosphatase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BU02-1", "PR:Q9BU02-1", "ENSEMBL:ENSP00000288014", "ENSEMBL:ENSP00000288014.6", "ENSEMBL:ENSP00000384580", "ENSEMBL:ENSP00000384580.3"], "information_content": 100.0}
{"id": "NCBIGene:64146", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDF", "equivalent_identifiers": ["NCBIGene:64146", "ENSEMBL:ENSG00000258429", "HGNC:30012", "OMIM:618720", "UMLS:C1826559", "UniProtKB:Q9HBH1", "PR:Q9HBH1", "ENSEMBL:ENSP00000288022", "ENSEMBL:ENSP00000288022.1", "UMLS:C1436785", "MESH:C483315"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCN5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCN5-1", "PR:Q8NCN5-1", "ENSEMBL:ENSP00000288050", "ENSEMBL:ENSP00000288050.5", "ENSEMBL:ENSP00000457916", "ENSEMBL:ENSP00000457916.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5T9G4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "armadillo repeat-containing protein 12 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5T9G4-2", "PR:Q5T9G4-2", "ENSEMBL:ENSP00000288065", "ENSEMBL:ENSP00000288065.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N0W3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "L-fucose kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N0W3-1", "PR:Q8N0W3-1", "ENSEMBL:ENSP00000288078", "ENSEMBL:ENSP00000288078.6"], "information_content": 100.0}
{"id": "MONDO:0000483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculogyric crisis", "equivalent_identifiers": ["MONDO:0000483", "DOID:0050842", "UMLS:C0085637", "MEDDRA:10011396", "MEDDRA:10030071", "MEDDRA:10041391", "SNOMEDCT:5332004", "medgen:43221", "icd11.foundation:1191930451", "HP:0010553"], "information_content": 100.0}
{"id": "UniProtKB:P10721-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mast/stem cell growth factor receptor Kit isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P10721-1", "PR:P10721-1", "ENSEMBL:ENSP00000288135", "ENSEMBL:ENSP00000288135.6"], "information_content": 100.0}
{"id": "MONDO:0005917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "placenta disorder", "equivalent_identifiers": ["MONDO:0005917", "DOID:780", "EFO:0007441", "UMLS:C0032045", "UMLS:C1335423", "MESH:D010922", "MEDDRA:10013257", "MEDDRA:10035132", "MEDDRA:10035133", "NCIT:C26857", "NCIT:C27619", "SNOMEDCT:125586008", "medgen:10781", "ICD10:O43", "ICD9:646.9"], "information_content": 77.3}
{"id": "MONDO:0006646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioleiomyoma", "equivalent_identifiers": ["MONDO:0006646", "DOID:4265", "EFO:1000084", "EFO:1000806", "UMLS:C0206653", "MESH:D018229", "MEDDRA:10068762", "NCIT:C3747", "SNOMEDCT:86959002", "medgen:60202"], "information_content": 89.4}
{"id": "UniProtKB:Q01668-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent L-type calcium channel subunit alpha-1D isoform Beta-cell-type (human)", "equivalent_identifiers": ["UniProtKB:Q01668-2", "PR:Q01668-2", "ENSEMBL:ENSP00000288139", "ENSEMBL:ENSP00000288139.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRM6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-17 receptor B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRM6-1", "PR:Q9NRM6-1", "ENSEMBL:ENSP00000288167", "ENSEMBL:ENSP00000288167.3"], "information_content": 100.0}
{"id": "NCBIGene:9133", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCNB2", "equivalent_identifiers": ["NCBIGene:9133", "ENSEMBL:ENSG00000157456", "HGNC:1580", "OMIM:602755", "UMLS:C1332696", "UniProtKB:O95067", "PR:O95067", "ENSEMBL:ENSP00000288207", "ENSEMBL:ENSP00000288207.2", "UMLS:C1609830", "MESH:C503758"], "information_content": 89.4}
{"id": "NCBIGene:26059", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERC2", "equivalent_identifiers": ["NCBIGene:26059", "ENSEMBL:ENSG00000187672", "HGNC:31922", "OMIM:617250", "UMLS:C1825060", "UniProtKB:H7C4G9", "ENSEMBL:ENSP00000417280", "ENSEMBL:ENSP00000417280.3", "UniProtKB:O15083", "PR:O15083", "ENSEMBL:ENSP00000288221", "ENSEMBL:ENSP00000288221.6", "ENSEMBL:ENSP00000417445", "ENSEMBL:ENSP00000417445.1", "UMLS:C0913448", "MESH:C406485"], "information_content": 95.4}
{"id": "NCBIGene:4643", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYO1E", "equivalent_identifiers": ["NCBIGene:4643", "ENSEMBL:ENSG00000157483", "HGNC:7599", "OMIM:601479", "UMLS:C1417562", "UniProtKB:Q12965", "PR:Q12965", "ENSEMBL:ENSP00000288235", "ENSEMBL:ENSP00000288235.4", "UMLS:C1722502", "UMLS:C4521290", "MESH:C511011", "UniProtKB:Q4KMR3"], "information_content": 89.4}
{"id": "NCBIGene:26060", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APPL1", "equivalent_identifiers": ["NCBIGene:26060", "ENSEMBL:ENSG00000157500", "HGNC:24035", "OMIM:604299", "UMLS:C1858559", "UniProtKB:Q9UKG1", "PR:Q9UKG1", "ENSEMBL:ENSP00000288266", "ENSEMBL:ENSP00000288266.3", "ENSEMBL:ENSP00000498115", "ENSEMBL:ENSP00000498115.1", "UMLS:C1143103", "MESH:C464801"], "information_content": 89.4}
{"id": "UniProtKB:Q70Z35-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q70Z35-1", "PR:Q70Z35-1", "ENSEMBL:ENSP00000288368", "ENSEMBL:ENSP00000288368.4"], "information_content": 100.0}
{"id": "UniProtKB:O75912-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diacylglycerol kinase iota isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75912-1", "PR:O75912-1", "ENSEMBL:ENSP00000288490", "ENSEMBL:ENSP00000288490.4"], "information_content": 100.0}
{"id": "NCBIGene:84274", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COQ5", "equivalent_identifiers": ["NCBIGene:84274", "ENSEMBL:ENSG00000110871", "HGNC:28722", "OMIM:616359", "UMLS:C1824777", "UniProtKB:Q5HYK3", "PR:Q5HYK3", "ENSEMBL:ENSP00000288532", "ENSEMBL:ENSP00000288532.6", "UMLS:C3711413", "MESH:C583058"], "information_content": 92.8}
{"id": "NCBIGene:84262", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMG3", "equivalent_identifiers": ["NCBIGene:84262", "ENSEMBL:ENSG00000157778", "HGNC:22420", "OMIM:617528", "UMLS:C1824233", "UniProtKB:Q9BT73", "PR:Q9BT73", "ENSEMBL:ENSP00000252329", "ENSEMBL:ENSP00000252329.3", "ENSEMBL:ENSP00000288607", "ENSEMBL:ENSP00000288607.2", "ENSEMBL:ENSP00000384799", "ENSEMBL:ENSP00000384799.3", "UMLS:C5226526", "MESH:C000633969"], "information_content": 82.6}
{"id": "UniProtKB:Q96PY5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "formin-like protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96PY5-3", "PR:Q96PY5-3", "ENSEMBL:ENSP00000288670", "ENSEMBL:ENSP00000288670.9"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCT6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal peptide peptidase-like 3 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCT6-2", "PR:Q8TCT6-2", "ENSEMBL:ENSP00000288680", "ENSEMBL:ENSP00000288680.4"], "information_content": 100.0}
{"id": "MONDO:0014444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 16", "equivalent_identifiers": ["MONDO:0014444", "DOID:0110138", "OMIM:615993", "UMLS:C3889474", "medgen:855172"], "information_content": 100.0}
{"id": "NCBIGene:56896", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPYSL5", "equivalent_identifiers": ["NCBIGene:56896", "ENSEMBL:ENSG00000157851", "HGNC:20637", "OMIM:608383", "UMLS:C1427047", "UniProtKB:Q9BPU6", "PR:Q9BPU6", "ENSEMBL:ENSP00000288699", "ENSEMBL:ENSP00000288699.6", "ENSEMBL:ENSP00000385549", "ENSEMBL:ENSP00000385549.1", "ENSEMBL:ENSP00000481305", "ENSEMBL:ENSP00000481305.1", "UMLS:C0961675", "MESH:C415087"], "information_content": 90.9}
{"id": "NCBIGene:92749", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRC1", "equivalent_identifiers": ["NCBIGene:92749", "ENSEMBL:ENSG00000157856", "HGNC:24245", "OMIM:615288", "UMLS:C1824106", "UniProtKB:Q96MC2", "PR:Q96MC2", "ENSEMBL:ENSP00000288710", "ENSEMBL:ENSP00000288710.2", "UMLS:C3657405", "MESH:C581311"], "information_content": 100.0}
{"id": "UniProtKB:O60683-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisome biogenesis factor 10 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60683-2", "PR:O60683-2", "ENSEMBL:ENSP00000288774", "ENSEMBL:ENSP00000288774.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4P8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat domain phosphoinositide-interacting protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4P8-1", "PR:Q9Y4P8-1", "ENSEMBL:ENSP00000288828", "ENSEMBL:ENSP00000288828.4"], "information_content": 100.0}
{"id": "UniProtKB:O43541-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mothers against decapentaplegic homolog 6 isoform A (human)", "equivalent_identifiers": ["UniProtKB:O43541-1", "PR:O43541-1", "ENSEMBL:ENSP00000288840", "ENSEMBL:ENSP00000288840.5"], "information_content": 100.0}
{"id": "NCBIGene:130106", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIB4", "equivalent_identifiers": ["NCBIGene:130106", "ENSEMBL:ENSG00000157884", "HGNC:33703", "OMIM:610646", "UMLS:C1857712", "UniProtKB:A0PJX0", "PR:A0PJX0", "ENSEMBL:ENSP00000288861", "ENSEMBL:ENSP00000288861.4", "UMLS:C3529334", "MESH:C577152"], "information_content": 95.4}
{"id": "MONDO:0003397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gingival hypertrophy", "equivalent_identifiers": ["MONDO:0003397", "DOID:5338", "UMLS:C0017567", "MESH:D005886", "MEDDRA:10018273", "MEDDRA:10018284", "MEDDRA:10018781", "MEDDRA:10020882", "medgen:6603"], "information_content": 100.0}
{"id": "UniProtKB:Q8TBY9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 251 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBY9-1", "PR:Q8TBY9-1", "ENSEMBL:ENSP00000288912", "ENSEMBL:ENSP00000288912.4"], "information_content": 100.0}
{"id": "MONDO:0001434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory spondylopathy", "equivalent_identifiers": ["MONDO:0001434", "DOID:12105", "UMLS:C0021396", "UMLS:C0949690", "MESH:D025241", "MEDDRA:10058338", "SNOMEDCT:202649003", "SNOMEDCT:371082009", "SNOMEDCT:784332006", "medgen:215416", "ICD9:720.81"], "information_content": 100.0}
{"id": "NCBIGene:63875", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL17", "equivalent_identifiers": ["NCBIGene:63875", "ENSEMBL:ENSG00000158042", "HGNC:14053", "OMIM:611830", "UMLS:C1422377", "UniProtKB:Q9NRX2", "PR:Q9NRX2", "ENSEMBL:ENSP00000288937", "ENSEMBL:ENSP00000288937.6"], "information_content": 95.4}
{"id": "NCBIGene:1844", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUSP2", "equivalent_identifiers": ["NCBIGene:1844", "ENSEMBL:ENSG00000158050", "HGNC:3068", "OMIM:603068", "UMLS:C1414184", "UniProtKB:Q05923", "PR:Q05923", "ENSEMBL:ENSP00000288943", "ENSEMBL:ENSP00000288943.4", "ENSEMBL:ENSP00000520821", "ENSEMBL:ENSP00000520821.1", "UMLS:C1873271", "MESH:C517032"], "information_content": 90.9}
{"id": "UniProtKB:Q8TE85-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "grainyhead-like protein 3 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TE85-1", "PR:Q8TE85-1", "ENSEMBL:ENSP00000288955", "ENSEMBL:ENSP00000288955.5"], "information_content": 100.0}
{"id": "MONDO:0013334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cocoon syndrome", "equivalent_identifiers": ["MONDO:0013334", "DOID:0060647", "OMIM:613630", "orphanet:465824", "UMLS:C3150891", "SNOMEDCT:1220575002", "medgen:462241"], "information_content": 100.0}
{"id": "UniProtKB:P32754-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "4-hydroxyphenylpyruvate dioxygenase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P32754-1", "PR:P32754-1", "ENSEMBL:ENSP00000289004", "ENSEMBL:ENSP00000289004.4"], "information_content": 95.4}
{"id": "NCBIGene:114822", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHPN1", "equivalent_identifiers": ["NCBIGene:114822", "ENSEMBL:ENSG00000158106", "HGNC:19973", "OMIM:601031", "UMLS:C1426574", "UniProtKB:Q8TCX5", "PR:Q8TCX5", "ENSEMBL:ENSP00000289013", "ENSEMBL:ENSP00000289013.6", "UMLS:C2000361"], "information_content": 100.0}
{"id": "NCBIGene:2176", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FANCC", "equivalent_identifiers": ["NCBIGene:2176", "ENSEMBL:ENSG00000158169", "HGNC:3584", "OMIM:613899", "UMLS:C1414529", "UniProtKB:A0A024R9N2", "UniProtKB:A0A087WW44", "ENSEMBL:ENSP00000479931", "ENSEMBL:ENSP00000479931.1", "UniProtKB:B4E3W2", "ENSEMBL:ENSP00000497630", "ENSEMBL:ENSP00000497630.1", "ENSEMBL:ENSP00000497729", "ENSEMBL:ENSP00000497729.1", "UniProtKB:Q00597", "PR:Q00597", "ENSEMBL:ENSP00000289081", "ENSEMBL:ENSP00000289081.3", "ENSEMBL:ENSP00000364454", "ENSEMBL:ENSP00000364454.1", "UMLS:C1528329", "MESH:C497651"], "information_content": 100.0}
{"id": "UniProtKB:O14807-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein M-Ras isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14807-1", "PR:O14807-1", "ENSEMBL:ENSP00000289104", "ENSEMBL:ENSP00000289104.4", "ENSEMBL:ENSP00000389682", "ENSEMBL:ENSP00000389682.2", "ENSEMBL:ENSP00000418356", "ENSEMBL:ENSP00000418356.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WU67-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipase ABHD3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WU67-1", "PR:Q8WU67-1", "ENSEMBL:ENSP00000289119", "ENSEMBL:ENSP00000289119.2"], "information_content": 100.0}
{"id": "NCBIGene:115572", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TENT5B", "equivalent_identifiers": ["NCBIGene:115572", "ENSEMBL:ENSG00000158246", "HGNC:28273", "OMIM:619069", "UMLS:C1539444", "UniProtKB:Q96A09", "PR:Q96A09", "ENSEMBL:ENSP00000289166", "ENSEMBL:ENSP00000289166.5", "UMLS:C4508018", "MESH:C000621064"], "information_content": 100.0}
{"id": "UniProtKB:Q9NX52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rhomboid-related protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NX52-1", "PR:Q9NX52-1", "ENSEMBL:ENSP00000289248", "ENSEMBL:ENSP00000289248.2", "ENSEMBL:ENSP00000362081", "ENSEMBL:ENSP00000362081.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5I4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin alpha-C2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5I4-1", "PR:Q9Y5I4-1", "ENSEMBL:ENSP00000289269", "ENSEMBL:ENSP00000289269.5", "ENSEMBL:ENSP00000517175", "ENSEMBL:ENSP00000517175.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5I0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin alpha-13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5I0-1", "PR:Q9Y5I0-1", "ENSEMBL:ENSP00000289272", "ENSEMBL:ENSP00000289272.2", "ENSEMBL:ENSP00000517171", "ENSEMBL:ENSP00000517171.1"], "information_content": 100.0}
{"id": "MONDO:0004933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoplastic left heart syndrome", "equivalent_identifiers": ["MONDO:0004933", "DOID:9955", "OMIM.PS:241550", "orphanet:2248", "UMLS:C0152101", "UMLS:C0344906", "MESH:D018636", "MEDDRA:10021076", "NCIT:C98894", "SNOMEDCT:253536001", "SNOMEDCT:62067003", "medgen:57746", "icd11.foundation:1811800027", "ICD10:Q23.4", "ICD9:746.7", "HP:0004383"], "information_content": 90.9}
{"id": "NCBIGene:3017", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BC5", "equivalent_identifiers": ["NCBIGene:3017", "ENSEMBL:ENSG00000158373", "HGNC:4747", "OMIM:602799", "UMLS:C1415411", "UniProtKB:P58876", "PR:P58876", "ENSEMBL:ENSP00000289316", "ENSEMBL:ENSP00000289316.2", "ENSEMBL:ENSP00000367008", "ENSEMBL:ENSP00000367008.4", "UMLS:C3890928"], "information_content": 82.1}
{"id": "UniProtKB:O00481-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "butyrophilin subfamily 3 member A1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00481-1", "PR:O00481-1", "ENSEMBL:ENSP00000289361", "ENSEMBL:ENSP00000289361.6"], "information_content": 100.0}
{"id": "NCBIGene:9669", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF5B", "equivalent_identifiers": ["NCBIGene:9669", "ENSEMBL:ENSG00000158417", "HGNC:30793", "OMIM:606086", "UMLS:C1429001", "UniProtKB:O60841", "PR:O60841", "ENSEMBL:ENSP00000289371", "ENSEMBL:ENSP00000289371.5", "UniProtKB:Q8N5A0"], "information_content": 95.4}
{"id": "UniProtKB:P0CG34", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TB15A_HUMAN Thymosin beta-15A (sprot)", "equivalent_identifiers": ["UniProtKB:P0CG34", "PR:P0CG34", "ENSEMBL:ENSP00000289373", "ENSEMBL:ENSP00000289373.4", "UMLS:C0532005"], "information_content": 100.0}
{"id": "MONDO:0044702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0044702", "DOID:0111738", "OMIM:301018", "orphanet:500188", "UMLS:C4746975", "medgen:1648389"], "information_content": 100.0}
{"id": "NCBIGene:55571", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNOT11", "equivalent_identifiers": ["NCBIGene:55571", "ENSEMBL:ENSG00000158435", "HGNC:25217", "OMIM:620509", "UMLS:C1540219", "UniProtKB:Q9UKZ1", "PR:Q9UKZ1", "ENSEMBL:ENSP00000289382", "ENSEMBL:ENSP00000289382.3", "UMLS:C5882173", "MESH:C000729715"], "information_content": 90.9}
{"id": "MONDO:0006018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wissler syndrome", "equivalent_identifiers": ["MONDO:0006018", "DOID:3047", "EFO:0007547", "UMLS:C0043195", "MESH:D014924", "MEDDRA:10058492", "MEDDRA:10058493", "medgen:53087"], "information_content": 100.0}
{"id": "UniProtKB:Q53FZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-coenzyme A synthetase ACSM3, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53FZ2-1", "PR:Q53FZ2-1", "ENSEMBL:ENSP00000289416", "ENSEMBL:ENSP00000289416.5"], "information_content": 100.0}
{"id": "NCBIGene:909", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD1A", "equivalent_identifiers": ["NCBIGene:909", "ENSEMBL:ENSG00000158477", "HGNC:1634", "OMIM:188370", "UMLS:C1413207", "UniProtKB:P06126", "PR:P06126", "ENSEMBL:ENSP00000289429", "ENSEMBL:ENSP00000289429.5", "UMLS:C3887507"], "information_content": 95.4}
{"id": "MONDO:0004612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant histiocytosis", "equivalent_identifiers": ["MONDO:0004612", "DOID:2570", "UMLS:C0019613", "UMLS:C0019623", "MESH:D015620", "MEDDRA:10025581", "MEDDRA:10027591", "MEDDRA:10028772", "MEDDRA:10036088", "NCIT:C7202", "SNOMEDCT:118612006", "SNOMEDCT:127070008", "SNOMEDCT:128920006", "medgen:5569"], "information_content": 100.0}
{"id": "MONDO:0002615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xanthomatosis", "equivalent_identifiers": ["MONDO:0002615", "DOID:3345", "UMLS:C0043325", "MESH:D014973", "MEDDRA:10048215", "SNOMEDCT:63103006", "medgen:21939", "HP:0000991"], "information_content": 84.8}
{"id": "UniProtKB:P14598-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neutrophil cytosol factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P14598-1", "PR:P14598-1", "ENSEMBL:ENSP00000289473", "ENSEMBL:ENSP00000289473.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8WV99-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AN1-type zinc finger protein 2B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WV99-1", "PR:Q8WV99-1", "ENSEMBL:ENSP00000289528", "ENSEMBL:ENSP00000289528.5", "ENSEMBL:ENSP00000386898", "ENSEMBL:ENSP00000386898.1", "ENSEMBL:ENSP00000411334", "ENSEMBL:ENSP00000411334.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NPC1-like intracellular cholesterol transporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHC9-1", "PR:Q9UHC9-1", "ENSEMBL:ENSP00000289547", "ENSEMBL:ENSP00000289547.4"], "information_content": 100.0}
{"id": "UniProtKB:O94956-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier organic anion transporter family member 2B1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94956-1", "PR:O94956-1", "ENSEMBL:ENSP00000289575", "ENSEMBL:ENSP00000289575.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96GU1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "P antigen family member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GU1-1", "PR:Q96GU1-1", "ENSEMBL:ENSP00000289619", "ENSEMBL:ENSP00000289619.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polycystin-1-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDX9-1", "PR:Q8TDX9-1", "ENSEMBL:ENSP00000289672", "ENSEMBL:ENSP00000289672.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9P0V8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SLAM family member 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0V8-1", "PR:Q9P0V8-1", "ENSEMBL:ENSP00000289707", "ENSEMBL:ENSP00000289707.5"], "information_content": 100.0}
{"id": "NCBIGene:1013", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDH15", "equivalent_identifiers": ["NCBIGene:1013", "ENSEMBL:ENSG00000129910", "HGNC:1754", "OMIM:114019", "UMLS:C1413272", "UniProtKB:P55291", "PR:P55291", "ENSEMBL:ENSP00000289746", "ENSEMBL:ENSP00000289746.2", "UMLS:C1612179"], "information_content": 100.0}
{"id": "UniProtKB:P41271-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuroblastoma suppressor of tumorigenicity 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P41271-2", "PR:P41271-2", "ENSEMBL:ENSP00000289749", "ENSEMBL:ENSP00000289749.2"], "information_content": 100.0}
{"id": "NCBIGene:3362", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTR6", "equivalent_identifiers": ["NCBIGene:3362", "ENSEMBL:ENSG00000158748", "HGNC:5301", "OMIM:601109", "UMLS:C1415815", "UniProtKB:P50406", "PR:P50406", "ENSEMBL:ENSP00000289753", "ENSEMBL:ENSP00000289753.1"], "information_content": 95.4}
{"id": "NCBIGene:2207", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FCER1G", "equivalent_identifiers": ["NCBIGene:2207", "ENSEMBL:ENSG00000158869", "HGNC:3611", "OMIM:147139", "UMLS:C1414548", "UniProtKB:P30273", "PR:P30273", "ENSEMBL:ENSP00000289902", "ENSEMBL:ENSP00000289902.1"], "information_content": 89.4}
{"id": "UniProtKB:Q8WWX8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/myo-inositol cotransporter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWX8-1", "PR:Q8WWX8-1", "ENSEMBL:ENSP00000289932", "ENSEMBL:ENSP00000289932.3", "ENSEMBL:ENSP00000416782", "ENSEMBL:ENSP00000416782.3", "ENSEMBL:ENSP00000499965", "ENSEMBL:ENSP00000499965.1", "ENSEMBL:ENSP00000518306", "ENSEMBL:ENSP00000518306.1"], "information_content": 100.0}
{"id": "NCBIGene:1142", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHRNB3", "equivalent_identifiers": ["NCBIGene:1142", "ENSEMBL:ENSG00000147432", "HGNC:1963", "OMIM:118508", "UMLS:C1413409", "UniProtKB:Q05901", "PR:Q05901", "ENSEMBL:ENSP00000289957", "ENSEMBL:ENSP00000289957.2", "UMLS:C2714649", "MESH:C539371"], "information_content": 95.4}
{"id": "MONDO:0012157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 4C", "equivalent_identifiers": ["MONDO:0012157", "DOID:0110679", "OMIM:608931", "UMLS:C1837091", "MESH:C536090", "NCIT:C174216", "medgen:373251"], "information_content": 100.0}
{"id": "UniProtKB:Q68EM7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68EM7-1", "PR:Q68EM7-1", "ENSEMBL:ENSP00000289968", "ENSEMBL:ENSP00000289968.6", "ENSEMBL:ENSP00000500372", "ENSEMBL:ENSP00000500372.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NAV2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C8orf58 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NAV2-1", "PR:Q8NAV2-1", "ENSEMBL:ENSP00000289989", "ENSEMBL:ENSP00000289989.5"], "information_content": 100.0}
{"id": "MONDO:0006045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian clear cell adenocarcinoma", "equivalent_identifiers": ["MONDO:0006045", "DOID:5304", "orphanet:398971", "EFO:1000042", "UMLS:C1518693", "UMLS:CN205034", "NCIT:C40078", "SNOMEDCT:763131005", "medgen:276659", "icd11.foundation:315825558"], "information_content": 88.2}
{"id": "NCBIGene:7484", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT9B", "equivalent_identifiers": ["NCBIGene:7484", "ENSEMBL:ENSG00000158955", "HGNC:12779", "OMIM:602864", "UMLS:C1421514", "UniProtKB:E7EPC3", "ENSEMBL:ENSP00000377105", "ENSEMBL:ENSP00000377105.2", "ENSEMBL:ENSP00000488518", "ENSEMBL:ENSP00000488518.1", "UMLS:C1310421", "MESH:C449090", "UniProtKB:O14905", "PR:O14905", "ENSEMBL:ENSP00000290015", "ENSEMBL:ENSP00000290015.2", "ENSEMBL:ENSP00000482127", "ENSEMBL:ENSP00000482127.1"], "information_content": 89.4}
{"id": "NCBIGene:10136", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CELA3A", "equivalent_identifiers": ["NCBIGene:10136", "ENSEMBL:ENSG00000142789", "HGNC:15944", "OMIM:618693", "UMLS:C1423848", "UniProtKB:P09093", "PR:P09093", "ENSEMBL:ENSP00000290122", "ENSEMBL:ENSP00000290122.3", "UMLS:C4506354", "MESH:C000617121"], "information_content": 86.3}
{"id": "NCBIGene:54069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MIS18A", "equivalent_identifiers": ["NCBIGene:54069", "ENSEMBL:ENSG00000159055", "HGNC:1286", "OMIM:618137", "UMLS:C1412969", "UniProtKB:Q9NYP9", "PR:Q9NYP9", "ENSEMBL:ENSP00000290130", "ENSEMBL:ENSP00000290130.3", "UMLS:C1609716", "MESH:C502942"], "information_content": 95.4}
{"id": "NCBIGene:56683", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP298", "equivalent_identifiers": ["NCBIGene:56683", "ENSEMBL:ENSG00000159079", "HGNC:1301", "OMIM:615494", "UMLS:C1412981", "UniProtKB:C9J818", "ENSEMBL:ENSP00000411467", "ENSEMBL:ENSP00000411467.1", "UniProtKB:D3DSE6", "ENSEMBL:ENSP00000371989", "ENSEMBL:ENSP00000371989.4", "UniProtKB:P57076", "PR:P57076", "ENSEMBL:ENSP00000290155", "ENSEMBL:ENSP00000290155.3"], "information_content": 90.9}
{"id": "UniProtKB:Q14974-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "importin subunit beta-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14974-1", "PR:Q14974-1", "ENSEMBL:ENSP00000290158", "ENSEMBL:ENSP00000290158.3", "ENSEMBL:ENSP00000464042", "ENSEMBL:ENSP00000464042.2"], "information_content": 100.0}
{"id": "UniProtKB:P56705-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Wnt-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P56705-1", "PR:P56705-1", "ENSEMBL:ENSP00000290167", "ENSEMBL:ENSP00000290167.5"], "information_content": 100.0}
{"id": "NCBIGene:3588", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL10RB", "equivalent_identifiers": ["NCBIGene:3588", "ENSEMBL:ENSG00000243646", "HGNC:5965", "OMIM:123889", "UMLS:C1334097", "UniProtKB:A0A1B0GTI5", "ENSEMBL:ENSP00000489716", "ENSEMBL:ENSP00000489716.2", "UniProtKB:A0A1B0GU52", "ENSEMBL:ENSP00000489965", "ENSEMBL:ENSP00000489965.2", "UniProtKB:Q08334", "PR:Q08334", "ENSEMBL:ENSP00000290200", "ENSEMBL:ENSP00000290200.2", "UMLS:C0217502", "MESH:C081846"], "information_content": 84.2}
{"id": "UniProtKB:Q7Z7H8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein uL10m isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z7H8-2", "PR:Q7Z7H8-2", "ENSEMBL:ENSP00000290208", "ENSEMBL:ENSP00000290208.7", "ENSEMBL:ENSP00000395870", "ENSEMBL:ENSP00000395870.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96FV2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "secernin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FV2-1", "PR:Q96FV2-1", "ENSEMBL:ENSP00000290216", "ENSEMBL:ENSP00000290216.9"], "information_content": 100.0}
{"id": "NCBIGene:57727", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCOA5", "equivalent_identifiers": ["NCBIGene:57727", "ENSEMBL:ENSG00000124160", "HGNC:15909", "OMIM:616825", "UMLS:C1334869", "UniProtKB:Q9HCD5", "PR:Q9HCD5", "ENSEMBL:ENSP00000290231", "ENSEMBL:ENSP00000290231.6", "UMLS:C0963277", "UMLS:C1367655", "MESH:C418222"], "information_content": 92.8}
{"id": "MONDO:0001076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glucose intolerance", "equivalent_identifiers": ["MONDO:0001076", "DOID:10603", "EFO:0002546", "UMLS:C0235401", "UMLS:C0271650", "MESH:D018149", "MEDDRA:10000137", "MEDDRA:10008423", "MEDDRA:10018426", "MEDDRA:10018429", "MEDDRA:10024016", "MEDDRA:10052426", "NCIT:C34646", "SNOMEDCT:267426009", "SNOMEDCT:9414007", "medgen:75760", "icd11.foundation:1392580302", "ICD10:R73.03", "HP:0001952"], "information_content": 80.9}
{"id": "UniProtKB:Q96JJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "engulfment and cell motility protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JJ3-1", "PR:Q96JJ3-1", "ENSEMBL:ENSP00000290246", "ENSEMBL:ENSP00000290246.6", "ENSEMBL:ENSP00000379673", "ENSEMBL:ENSP00000379673.1"], "information_content": 100.0}
{"id": "UniProtKB:P52823-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stanniocalcin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P52823-1", "PR:P52823-1", "ENSEMBL:ENSP00000290271", "ENSEMBL:ENSP00000290271.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "opioid growth factor receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZT2-1", "PR:Q9NZT2-1", "ENSEMBL:ENSP00000290291", "ENSEMBL:ENSP00000290291.6"], "information_content": 100.0}
{"id": "NCBIGene:84366", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAC1", "equivalent_identifiers": ["NCBIGene:84366", "ENSEMBL:ENSG00000159182", "HGNC:30591", "OMIM:609819", "UMLS:C1853292", "UniProtKB:Q96KF2", "PR:Q96KF2", "ENSEMBL:ENSP00000290294", "ENSEMBL:ENSP00000290294.3", "UMLS:C0966144", "MESH:C425926"], "information_content": 100.0}
{"id": "NCBIGene:10481", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXB13", "equivalent_identifiers": ["NCBIGene:10481", "ENSEMBL:ENSG00000159184", "HGNC:5112", "OMIM:604607", "UMLS:C1415664", "UniProtKB:Q4KR72", "UniProtKB:Q92826", "PR:Q92826", "ENSEMBL:ENSP00000290295", "ENSEMBL:ENSP00000290295.8", "UMLS:C1436058", "MESH:C484414"], "information_content": 100.0}
{"id": "MONDO:0016699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myxopapillary ependymoma", "equivalent_identifiers": ["MONDO:0016699", "DOID:5075", "orphanet:251643", "UMLS:C0205769", "MEDDRA:10014969", "NCIT:C3697", "SNOMEDCT:1623000", "medgen:104717"], "information_content": 92.8}
{"id": "MONDO:0003544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal cancer", "equivalent_identifiers": ["MONDO:0003544", "DOID:5612", "UMLS:C0153646", "MEDDRA:10026472", "MEDDRA:10026700", "NCIT:C3572", "SNOMEDCT:363475005", "medgen:56317", "ICD10:C72.0", "ICD9:192.2"], "information_content": 81.7}
{"id": "NCBIGene:539", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP5PO", "equivalent_identifiers": ["NCBIGene:539", "ENSEMBL:ENSG00000241837", "HGNC:850", "OMIM:600828", "UMLS:C1412671", "UniProtKB:P48047", "PR:P48047", "ENSEMBL:ENSP00000290299", "ENSEMBL:ENSP00000290299.2"], "information_content": 88.2}
{"id": "NCBIGene:9992", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNE2", "equivalent_identifiers": ["NCBIGene:9992", "ENSEMBL:ENSG00000159197", "HGNC:6242", "OMIM:603796", "UMLS:C1416565", "UniProtKB:Q9Y6J6", "PR:Q9Y6J6", "ENSEMBL:ENSP00000290310", "ENSEMBL:ENSP00000290310.2", "ENSEMBL:ENSP00000520524", "ENSEMBL:ENSP00000520524.1", "UMLS:C1451944", "MESH:C489619"], "information_content": 95.4}
{"id": "UniProtKB:Q9NZI8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "insulin-like growth factor 2 mRNA-binding protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZI8-1", "PR:Q9NZI8-1", "ENSEMBL:ENSP00000290341", "ENSEMBL:ENSP00000290341.3"], "information_content": 100.0}
{"id": "UniProtKB:P16152-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carbonyl reductase [NADPH] 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P16152-1", "PR:P16152-1", "ENSEMBL:ENSP00000290349", "ENSEMBL:ENSP00000290349.6"], "information_content": 100.0}
{"id": "NCBIGene:874", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CBR3", "equivalent_identifiers": ["NCBIGene:874", "ENSEMBL:ENSG00000159231", "HGNC:1549", "OMIM:603608", "UMLS:C1413155", "UniProtKB:O75828", "PR:O75828", "ENSEMBL:ENSP00000290354", "ENSEMBL:ENSP00000290354.5", "UMLS:C2604871", "UMLS:C3538941", "MESH:C531130", "UniProtKB:V9HW40"], "information_content": 92.8}
{"id": "UniProtKB:Q8N365-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "circadian-associated transcriptional repressor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N365-1", "PR:Q8N365-1", "ENSEMBL:ENSP00000290363", "ENSEMBL:ENSP00000290363.5", "ENSEMBL:ENSP00000358091", "ENSEMBL:ENSP00000358091.1"], "information_content": 100.0}
{"id": "NCBIGene:57369", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJD2", "equivalent_identifiers": ["NCBIGene:57369", "ENSEMBL:ENSG00000159248", "HGNC:19154", "OMIM:607058", "UMLS:C1846885", "UniProtKB:Q9UKL4", "PR:Q9UKL4", "ENSEMBL:ENSP00000290374", "ENSEMBL:ENSP00000290374.4"], "information_content": 95.4}
{"id": "NCBIGene:70", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTC1", "equivalent_identifiers": ["NCBIGene:70", "ENSEMBL:ENSG00000159251", "HGNC:143", "OMIM:102540", "UMLS:C1825843", "UniProtKB:B3KPP5", "UniProtKB:P68032", "PR:P68032", "ENSEMBL:ENSP00000290378", "ENSEMBL:ENSP00000290378.4", "ENSEMBL:ENSP00000518905", "ENSEMBL:ENSP00000518905.1", "ENSEMBL:ENSP00000518911", "ENSEMBL:ENSP00000518911.1", "UMLS:C2351750", "MESH:C526913"], "information_content": 95.4}
{"id": "UniProtKB:Q14190-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "single-minded homolog 2 isoform hSIM2 (human)", "equivalent_identifiers": ["UniProtKB:Q14190-1", "PR:Q14190-1", "ENSEMBL:ENSP00000290399", "ENSEMBL:ENSP00000290399.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y639-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuroplastin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y639-2", "PR:Q9Y639-2", "ENSEMBL:ENSP00000290401", "ENSEMBL:ENSP00000290401.4"], "information_content": 100.0}
{"id": "MONDO:0003040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retrograde amnesia", "equivalent_identifiers": ["MONDO:0003040", "DOID:4543", "UMLS:C0002624", "MESH:D000648", "MEDDRA:10038965", "NCIT:C34372", "SNOMEDCT:51921000", "medgen:264", "icd11.foundation:1405777748", "ICD10:R41.2", "HP:0033690"], "information_content": 92.8}
{"id": "UniProtKB:Q17RM4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 142 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q17RM4-2", "PR:Q17RM4-2", "ENSEMBL:ENSP00000290418", "ENSEMBL:ENSP00000290418.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVS2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "malonyl-CoA-acyl carrier protein transacylase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVS2-1", "PR:Q8IVS2-1", "ENSEMBL:ENSP00000290429", "ENSEMBL:ENSP00000290429.5"], "information_content": 100.0}
{"id": "NCBIGene:342096", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOLGA6A", "equivalent_identifiers": ["NCBIGene:342096", "ENSEMBL:ENSG00000159289", "HGNC:13567", "OMIM:610288", "UMLS:C1422069", "UniProtKB:A2VDJ1", "UMLS:C1309923", "MESH:C427473", "UniProtKB:Q9NYA3", "PR:Q9NYA3", "ENSEMBL:ENSP00000290438", "ENSEMBL:ENSP00000290438.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86XP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic phospholipase A2 delta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XP0-1", "PR:Q86XP0-1", "ENSEMBL:ENSP00000290472", "ENSEMBL:ENSP00000290472.3"], "information_content": 100.0}
{"id": "UniProtKB:P48382-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-binding protein RFX5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48382-1", "PR:P48382-1", "ENSEMBL:ENSP00000290524", "ENSEMBL:ENSP00000290524.4", "ENSEMBL:ENSP00000357864", "ENSEMBL:ENSP00000357864.2", "ENSEMBL:ENSP00000389130", "ENSEMBL:ENSP00000389130.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TC57-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "meiosis 1 arrest protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TC57-1", "PR:Q8TC57-1", "ENSEMBL:ENSP00000290536", "ENSEMBL:ENSP00000290536.5", "ENSEMBL:ENSP00000414882", "ENSEMBL:ENSP00000414882.2"], "information_content": 100.0}
{"id": "NCBIGene:5692", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMB4", "equivalent_identifiers": ["NCBIGene:5692", "ENSEMBL:ENSG00000159377", "HGNC:9541", "OMIM:602177", "UMLS:C1419014", "UniProtKB:A0A140VK46", "UMLS:C1431020", "MESH:C108898", "UniProtKB:P28070", "PR:P28070", "ENSEMBL:ENSP00000290541", "ENSEMBL:ENSP00000290541.6"], "information_content": 95.4}
{"id": "NCBIGene:7832", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BTG2", "equivalent_identifiers": ["NCBIGene:7832", "ENSEMBL:ENSG00000159388", "HGNC:1131", "OMIM:601597", "UMLS:C1366526", "UniProtKB:P78543", "PR:P78543", "ENSEMBL:ENSP00000290551", "ENSEMBL:ENSP00000290551.4", "ENSEMBL:ENSP00000433553", "ENSEMBL:ENSP00000433553.1", "UMLS:C1505113", "MESH:C070114"], "information_content": 92.8}
{"id": "NCBIGene:79190", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IRX6", "equivalent_identifiers": ["NCBIGene:79190", "ENSEMBL:ENSG00000159387", "HGNC:14675", "OMIM:606196", "UMLS:C1422831", "UniProtKB:P78412", "PR:P78412", "ENSEMBL:ENSP00000290552", "ENSEMBL:ENSP00000290552.8", "UMLS:C1570429", "MESH:C501604"], "information_content": 100.0}
{"id": "NCBIGene:3099", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HK2", "equivalent_identifiers": ["NCBIGene:3099", "ENSEMBL:ENSG00000159399", "HGNC:4923", "OMIM:601125", "UMLS:C1333898", "UniProtKB:E9PB90", "ENSEMBL:ENSP00000387140", "ENSEMBL:ENSP00000387140.1", "UniProtKB:P52789", "PR:P52789", "ENSEMBL:ENSP00000290573", "ENSEMBL:ENSP00000290573.2", "UMLS:C4276461", "MESH:C000609700"], "information_content": 83.1}
{"id": "UniProtKB:Q5SZQ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CUGBP Elav-like family member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SZQ8-1", "PR:Q5SZQ8-1", "ENSEMBL:ENSP00000290583", "ENSEMBL:ENSP00000290583.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2P6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "StAR-related lipid transfer protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2P6-1", "PR:Q9P2P6-1", "ENSEMBL:ENSP00000290607", "ENSEMBL:ENSP00000290607.7"], "information_content": 100.0}
{"id": "NCBIGene:267", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AMFR", "equivalent_identifiers": ["NCBIGene:267", "ENSEMBL:ENSG00000159461", "HGNC:463", "OMIM:603243", "UMLS:C1332083", "UniProtKB:Q9UKV5", "PR:Q9UKV5", "ENSEMBL:ENSP00000290649", "ENSEMBL:ENSP00000290649.5", "UMLS:C1869251", "MESH:C555000"], "information_content": 88.2}
{"id": "UniProtKB:Q8IWV7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase UBR1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWV7-1", "PR:Q8IWV7-1", "ENSEMBL:ENSP00000290650", "ENSEMBL:ENSP00000290650.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96G25-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96G25-2", "PR:Q96G25-2", "ENSEMBL:ENSP00000290663", "ENSEMBL:ENSP00000290663.6"], "information_content": 100.0}
{"id": "NCBIGene:4489", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT1A", "equivalent_identifiers": ["NCBIGene:4489", "ENSEMBL:ENSG00000205362", "HGNC:7393", "OMIM:156350", "UMLS:C1417389", "UniProtKB:P04731", "PR:P04731", "ENSEMBL:ENSP00000290705", "ENSEMBL:ENSP00000290705.8", "UMLS:C2355063", "MESH:C530099"], "information_content": 100.0}
{"id": "NCBIGene:114771", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGLYRP3", "equivalent_identifiers": ["NCBIGene:114771", "ENSEMBL:ENSG00000159527", "HGNC:30014", "OMIM:608197", "UMLS:C1428915", "UniProtKB:Q96LB9", "PR:Q96LB9", "ENSEMBL:ENSP00000290722", "ENSEMBL:ENSP00000290722.1", "ENSEMBL:ENSP00000507327", "ENSEMBL:ENSP00000507327.1", "UMLS:C1505331"], "information_content": 95.4}
{"id": "NCBIGene:64843", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ISL2", "equivalent_identifiers": ["NCBIGene:64843", "ENSEMBL:ENSG00000159556", "HGNC:18524", "OMIM:609481", "UMLS:C1425576", "UniProtKB:Q96A47", "PR:Q96A47", "ENSEMBL:ENSP00000290759", "ENSEMBL:ENSP00000290759.4", "UMLS:C1872105", "MESH:C516210"], "information_content": 95.4}
{"id": "NCBIGene:653689", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSTT2B", "equivalent_identifiers": ["NCBIGene:653689", "ENSEMBL:ENSG00000133433", "HGNC:33437", "UMLS:C2239508", "UniProtKB:P0CG30", "PR:P0CG30", "ENSEMBL:ENSP00000290765", "ENSEMBL:ENSP00000290765.4", "ENSEMBL:ENSP00000478389", "ENSEMBL:ENSP00000478389.1", "UniProtKB:Q6ICJ4", "ENSEMBL:ENSP00000385116", "ENSEMBL:ENSP00000385116.3"], "information_content": 95.4}
{"id": "MONDO:0007309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 1A", "equivalent_identifiers": ["MONDO:0007309", "DOID:0110148", "OMIM:118220", "orphanet:101081", "UMLS:C0270911", "NCIT:C75468", "SNOMEDCT:40632002", "medgen:75727"], "information_content": 92.8}
{"id": "UniProtKB:P12821-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "angiotensin-converting enzyme isoform hSomatic-1 (human)", "equivalent_identifiers": ["UniProtKB:P12821-1", "PR:P12821-1", "ENSEMBL:ENSP00000290866", "ENSEMBL:ENSP00000290866.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6URK8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sperm microtubule inner protein 8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6URK8-2", "PR:Q6URK8-2", "ENSEMBL:ENSP00000290871", "ENSEMBL:ENSP00000290871.6"], "information_content": 100.0}
{"id": "UniProtKB:Q7M4L6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH2 domain-containing adapter protein F isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7M4L6-1", "PR:Q7M4L6-1", "ENSEMBL:ENSP00000290894", "ENSEMBL:ENSP00000290894.8"], "information_content": 100.0}
{"id": "NCBIGene:84303", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHCHD6", "equivalent_identifiers": ["NCBIGene:84303", "ENSEMBL:ENSG00000159685", "HGNC:28184", "OMIM:615634", "UMLS:C1428678", "UniProtKB:Q9BRQ6", "PR:Q9BRQ6", "ENSEMBL:ENSP00000290913", "ENSEMBL:ENSP00000290913.3", "UMLS:C1999948", "MESH:C522814"], "information_content": 92.8}
{"id": "UniProtKB:Q13363-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-terminal-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13363-1", "PR:Q13363-1", "ENSEMBL:ENSP00000290921", "ENSEMBL:ENSP00000290921.6"], "information_content": 100.0}
{"id": "UniProtKB:A2A2Z9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AN18B_HUMAN Ankyrin repeat domain-containing protein 18B (sprot)", "equivalent_identifiers": ["UniProtKB:A2A2Z9", "PR:A2A2Z9", "ENSEMBL:ENSP00000290943", "ENSEMBL:ENSP00000290943.6"], "information_content": 90.9}
{"id": "MONDO:0006173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conjunctival squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0006173", "DOID:1748", "EFO:1000206", "UMLS:C0346359", "MEDDRA:10079644", "NCIT:C4549", "SNOMEDCT:255003007", "medgen:87558"], "information_content": 92.8}
{"id": "NCBIGene:9114", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP6V0D1", "equivalent_identifiers": ["NCBIGene:9114", "ENSEMBL:ENSG00000159720", "HGNC:13724", "OMIM:607028", "UMLS:C1422164", "UniProtKB:P61421", "PR:P61421", "ENSEMBL:ENSP00000290949", "ENSEMBL:ENSP00000290949.3"], "information_content": 84.2}
{"id": "NCBIGene:181", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGRP", "equivalent_identifiers": ["NCBIGene:181", "ENSEMBL:ENSG00000159723", "HGNC:330", "OMIM:602311", "UMLS:C1412286", "UniProtKB:C6SUN5", "UniProtKB:O00253", "PR:O00253", "ENSEMBL:ENSP00000290953", "ENSEMBL:ENSP00000290953.3", "UMLS:C1741739", "MESH:C515198"], "information_content": 90.9}
{"id": "UniProtKB:Q9HCC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lateral signaling target protein 2 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCC9-1", "PR:Q9HCC9-1", "ENSEMBL:ENSP00000290974", "ENSEMBL:ENSP00000290974.3"], "information_content": 100.0}
{"id": "NCBIGene:5304", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIP", "equivalent_identifiers": ["NCBIGene:5304", "ENSEMBL:ENSG00000159763", "HGNC:8993", "OMIM:176720", "UMLS:C1418587", "UniProtKB:P12273", "PR:P12273", "ENSEMBL:ENSP00000291009", "ENSEMBL:ENSP00000291009.3", "UMLS:C1144261", "MESH:C488892"], "information_content": 90.9}
{"id": "MONDO:0006607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Other acne", "equivalent_identifiers": ["MONDO:0006607", "DOID:9098", "EFO:1000763", "UMLS:C0029485", "UMLS:C0036502", "MESH:D012625", "MEDDRA:10039781", "MEDDRA:10039782", "MEDDRA:10045756", "MEDDRA:10061511", "SNOMEDCT:3441005", "medgen:48599", "ICD10:L70.8", "ICD9:706.1"], "information_content": 80.9}
{"id": "MONDO:0005074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papillary cystadenocarcinoma", "equivalent_identifiers": ["MONDO:0005074", "DOID:3110", "EFO:0000639", "UMLS:C0206700", "MESH:D018283", "NCIT:C3777", "SNOMEDCT:2735009", "medgen:64635"], "information_content": 92.8}
{"id": "UniProtKB:Q14590-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 235 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14590-1", "PR:Q14590-1", "ENSEMBL:ENSP00000291182", "ENSEMBL:ENSP00000291182.3"], "information_content": 100.0}
{"id": "MONDO:0003550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal adenosquamous carcinoma", "equivalent_identifiers": ["MONDO:0003550", "DOID:5625", "UMLS:C2063886", "MEDDRA:10082968", "MEDDRA:10082969", "NCIT:C27421", "medgen:389165"], "information_content": 100.0}
{"id": "UniProtKB:Q96RJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 13C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RJ3-1", "PR:Q96RJ3-1", "ENSEMBL:ENSP00000291232", "ENSEMBL:ENSP00000291232.3"], "information_content": 100.0}
{"id": "NCBIGene:5739", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTGIR", "equivalent_identifiers": ["NCBIGene:5739", "ENSEMBL:ENSG00000160013", "HGNC:9602", "OMIM:600022", "UMLS:C1419070", "UniProtKB:P43119", "PR:P43119", "ENSEMBL:ENSP00000291294", "ENSEMBL:ENSP00000291294.1", "UMLS:C1447667", "MESH:C113936"], "information_content": 92.8}
{"id": "UniProtKB:P0DP25", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CALM3_HUMAN Calmodulin-3 (sprot)", "equivalent_identifiers": ["UniProtKB:P0DP25", "PR:P0DP25", "ENSEMBL:ENSP00000291295", "ENSEMBL:ENSP00000291295.8", "ENSEMBL:ENSP00000472141", "ENSEMBL:ENSP00000472141.1"], "information_content": 90.9}
{"id": "MONDO:0000262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otomycosis", "equivalent_identifiers": ["MONDO:0000262", "DOID:0050147", "UMLS:C0029895", "MESH:D059249", "MEDDRA:10052557", "MEDDRA:10088657", "SNOMEDCT:53316003", "medgen:452110", "icd11.foundation:107388709"], "information_content": 95.4}
{"id": "MONDO:0000255", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subcutaneous mycosis", "equivalent_identifiers": ["MONDO:0000255", "DOID:0050135", "UMLS:C5230306", "SNOMEDCT:789052003", "medgen:1684692"], "information_content": 92.8}
{"id": "UniProtKB:Q9BVG3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM62 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVG3-1", "PR:Q9BVG3-1", "ENSEMBL:ENSP00000291416", "ENSEMBL:ENSP00000291416.5"], "information_content": 100.0}
{"id": "MONDO:0011547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 31 multiple types", "equivalent_identifiers": ["MONDO:0011547", "DOID:0110265", "OMIM:605387", "UMLS:C1854311", "MESH:C535343", "medgen:343089"], "information_content": 100.0}
{"id": "MONDO:0014429", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency", "equivalent_identifiers": ["MONDO:0014429", "DOID:0111956", "OMIM:615978", "orphanet:319581", "UMLS:C4014863", "medgen:863300"], "information_content": 100.0}
{"id": "NCBIGene:2063", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NR2F6", "equivalent_identifiers": ["NCBIGene:2063", "ENSEMBL:ENSG00000160113", "HGNC:7977", "OMIM:132880", "UMLS:C0812264", "UniProtKB:F1D8R3", "UniProtKB:P10588", "PR:P10588", "ENSEMBL:ENSP00000291442", "ENSEMBL:ENSP00000291442.2", "UMLS:C0258608", "MESH:C075835"], "information_content": 100.0}
{"id": "NCBIGene:404037", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HAPLN4", "equivalent_identifiers": ["NCBIGene:404037", "ENSEMBL:ENSG00000187664", "HGNC:31357", "OMIM:619710", "UMLS:C1429189", "UniProtKB:Q86UW8", "PR:Q86UW8", "ENSEMBL:ENSP00000291481", "ENSEMBL:ENSP00000291481.5", "UMLS:C1433772", "MESH:C480571"], "information_content": 100.0}
{"id": "NCBIGene:148113", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CILP2", "equivalent_identifiers": ["NCBIGene:148113", "ENSEMBL:ENSG00000160161", "HGNC:24213", "OMIM:612419", "UMLS:C1428358", "UniProtKB:Q8IUL8", "PR:Q8IUL8", "ENSEMBL:ENSP00000291495", "ENSEMBL:ENSP00000291495.3", "UMLS:C3489522"], "information_content": 100.0}
{"id": "NCBIGene:7032", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TFF2", "equivalent_identifiers": ["NCBIGene:7032", "ENSEMBL:ENSG00000160181", "HGNC:11756", "OMIM:182590", "UMLS:C1420701", "UniProtKB:Q03403", "PR:Q03403", "ENSEMBL:ENSP00000291526", "ENSEMBL:ENSP00000291526.4", "UMLS:C0905072", "MESH:C000604007"], "information_content": 90.9}
{"id": "NCBIGene:7031", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TFF1", "equivalent_identifiers": ["NCBIGene:7031", "ENSEMBL:ENSG00000160182", "HGNC:11755", "OMIM:113710", "UMLS:C1366563", "UniProtKB:P04155", "PR:P04155", "ENSEMBL:ENSP00000291527", "ENSEMBL:ENSP00000291527.2", "UMLS:C0072523", "MESH:C051838"], "information_content": 90.9}
{"id": "UniProtKB:Q8WYR4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "radial spoke head 1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYR4-1", "PR:Q8WYR4-1", "ENSEMBL:ENSP00000291536", "ENSEMBL:ENSP00000291536.3"], "information_content": 100.0}
{"id": "UniProtKB:O76083-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform hPDE9A1 (human)", "equivalent_identifiers": ["UniProtKB:O76083-1", "PR:O76083-1", "ENSEMBL:ENSP00000291539", "ENSEMBL:ENSP00000291539.6"], "information_content": 100.0}
{"id": "UniProtKB:P55347-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein PKNOX1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P55347-1", "PR:P55347-1", "ENSEMBL:ENSP00000291547", "ENSEMBL:ENSP00000291547.4"], "information_content": 100.0}
{"id": "UniProtKB:Q01081-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "splicing factor U2AF 35 kDa subunit isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01081-1", "PR:Q01081-1", "ENSEMBL:ENSP00000291552", "ENSEMBL:ENSP00000291552.4"], "information_content": 100.0}
{"id": "UniProtKB:P02489", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CRYAA_HUMAN Alpha-crystallin A chain (sprot)", "equivalent_identifiers": ["UniProtKB:P02489", "PR:P02489", "ENSEMBL:ENSP00000291554", "ENSEMBL:ENSP00000291554.2"], "information_content": 100.0}
{"id": "UniProtKB:O75031-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heat shock factor 2-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75031-1", "PR:O75031-1", "ENSEMBL:ENSP00000291560", "ENSEMBL:ENSP00000291560.2"], "information_content": 100.0}
{"id": "UniProtKB:O00764-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyridoxal kinase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00764-1", "PR:O00764-1", "ENSEMBL:ENSP00000291565", "ENSEMBL:ENSP00000291565.4"], "information_content": 100.0}
{"id": "NCBIGene:1476", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSTB", "equivalent_identifiers": ["NCBIGene:1476", "ENSEMBL:ENSG00000160213", "HGNC:2482", "OMIM:601145", "UMLS:C1332798", "UniProtKB:P04080", "PR:P04080", "ENSEMBL:ENSP00000291568", "ENSEMBL:ENSP00000291568.6", "UMLS:C1609848", "UMLS:C4283861", "MESH:C524994", "UniProtKB:Q76LA1"], "information_content": 89.4}
{"id": "UniProtKB:Q9NRZ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase gamma isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRZ7-1", "PR:Q9NRZ7-1", "ENSEMBL:ENSP00000291572", "ENSEMBL:ENSP00000291572.8", "ENSEMBL:ENSP00000332989", "ENSEMBL:ENSP00000332989.2", "ENSEMBL:ENSP00000381135", "ENSEMBL:ENSP00000381135.1", "ENSEMBL:ENSP00000381138", "ENSEMBL:ENSP00000381138.1", "ENSEMBL:ENSP00000381140", "ENSEMBL:ENSP00000381140.2", "ENSEMBL:ENSP00000443510", "ENSEMBL:ENSP00000443510.1"], "information_content": 100.0}
{"id": "UniProtKB:P48553-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trafficking protein particle complex subunit 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48553-1", "PR:P48553-1", "ENSEMBL:ENSP00000291574", "ENSEMBL:ENSP00000291574.4"], "information_content": 100.0}
{"id": "NCBIGene:5822", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PWP2", "equivalent_identifiers": ["NCBIGene:5822", "ENSEMBL:ENSG00000241945", "HGNC:9711", "OMIM:601475", "UMLS:C1419145", "UniProtKB:Q15269", "PR:Q15269", "ENSEMBL:ENSP00000291576", "ENSEMBL:ENSP00000291576.6", "UMLS:C1313473", "MESH:C484410"], "information_content": 95.4}
{"id": "UniProtKB:P0DPI2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0DPI2-1", "PR:P0DPI2-1", "ENSEMBL:ENSP00000291577", "ENSEMBL:ENSP00000291577.6"], "information_content": 100.0}
{"id": "UniProtKB:O43918-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "autoimmune regulator isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43918-1", "PR:O43918-1", "ENSEMBL:ENSP00000291582", "ENSEMBL:ENSP00000291582.5"], "information_content": 100.0}
{"id": "NCBIGene:81543", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC3", "equivalent_identifiers": ["NCBIGene:81543", "ENSEMBL:ENSG00000160233", "HGNC:14965", "OMIM:617620", "UMLS:C1423093", "UniProtKB:Q9BY71", "PR:Q9BY71", "ENSEMBL:ENSP00000291592", "ENSEMBL:ENSP00000291592.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9NSI2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosome biogenesis protein SLX9 homolog isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9NSI2-1", "PR:Q9NSI2-1", "ENSEMBL:ENSP00000291634", "ENSEMBL:ENSP00000291634.6"], "information_content": 100.0}
{"id": "MONDO:0014900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2Y", "equivalent_identifiers": ["MONDO:0014900", "DOID:0110289", "OMIM:617072", "orphanet:424261", "UMLS:C4511482", "NCIT:C181000", "SNOMEDCT:725907002", "medgen:1385152"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0A9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "speriolin-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0A9-1", "PR:Q9H0A9-1", "ENSEMBL:ENSP00000291672", "ENSEMBL:ENSP00000291672.5", "ENSEMBL:ENSP00000483544", "ENSEMBL:ENSP00000483544.1"], "information_content": 100.0}
{"id": "MONDO:0013928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 23", "equivalent_identifiers": ["MONDO:0013928", "DOID:0090051", "OMIM:614860", "orphanet:420492", "UMLS:C3538999", "SNOMEDCT:783242003", "medgen:761274"], "information_content": 100.0}
{"id": "UniProtKB:O60318-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "germinal-center associated nuclear protein isoform GANP (human)", "equivalent_identifiers": ["UniProtKB:O60318-1", "PR:O60318-1", "ENSEMBL:ENSP00000291688", "ENSEMBL:ENSP00000291688.1", "ENSEMBL:ENSP00000380820", "ENSEMBL:ENSP00000380820.1"], "information_content": 100.0}
{"id": "MONDO:0011528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyper-IgM syndrome type 2", "equivalent_identifiers": ["MONDO:0011528", "DOID:0060758", "OMIM:605258", "orphanet:101089", "UMLS:C1275128", "UMLS:C1720956", "NCIT:C129074", "SNOMEDCT:403836001", "medgen:354548"], "information_content": 100.0}
{"id": "UniProtKB:P58505-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C21orf58 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P58505-1", "PR:P58505-1", "ENSEMBL:ENSP00000291691", "ENSEMBL:ENSP00000291691.8"], "information_content": 100.0}
{"id": "NCBIGene:6285", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100B", "equivalent_identifiers": ["NCBIGene:6285", "ENSEMBL:ENSG00000160307", "HGNC:10500", "OMIM:176990", "UMLS:C1419790", "UniProtKB:A0A0S2Z4C5", "UniProtKB:P04271", "PR:P04271", "ENSEMBL:ENSP00000291700", "ENSEMBL:ENSP00000291700.4", "ENSEMBL:ENSP00000380769", "ENSEMBL:ENSP00000380769.1", "UMLS:C3711149", "MESH:C579160"], "information_content": 92.8}
{"id": "UniProtKB:Q96PQ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialic acid-binding Ig-like lectin 12 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q96PQ1-1", "PR:Q96PQ1-1", "ENSEMBL:ENSP00000291707", "ENSEMBL:ENSP00000291707.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15485-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ficolin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15485-1", "PR:Q15485-1", "ENSEMBL:ENSP00000291744", "ENSEMBL:ENSP00000291744.6"], "information_content": 100.0}
{"id": "MONDO:0006955", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rheumatic heart disease", "equivalent_identifiers": ["MONDO:0006955", "DOID:0050827", "EFO:1001161", "UMLS:C0035439", "MESH:D012214", "MEDDRA:10039059", "MEDDRA:10039061", "MEDDRA:10046148", "MEDDRA:10062110", "NCIT:C34882", "SNOMEDCT:23685000", "medgen:20565"], "information_content": 82.1}
{"id": "UniProtKB:P59901-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukocyte immunoglobulin-like receptor subfamily A member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P59901-1", "PR:P59901-1", "ENSEMBL:ENSP00000291759", "ENSEMBL:ENSP00000291759.4"], "information_content": 100.0}
{"id": "NCBIGene:147746", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HIPK4", "equivalent_identifiers": ["NCBIGene:147746", "ENSEMBL:ENSG00000160396", "HGNC:19007", "OMIM:611712", "UMLS:C1425946", "UniProtKB:A0A140VJL1", "UMLS:C2352343", "MESH:C527527", "UniProtKB:Q8NE63", "PR:Q8NE63", "ENSEMBL:ENSP00000291823", "ENSEMBL:ENSP00000291823.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TBC3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH3KBP1-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBC3-1", "PR:Q8TBC3-1", "ENSEMBL:ENSP00000291842", "ENSEMBL:ENSP00000291842.4"], "information_content": 100.0}
{"id": "MONDO:0032839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "noonan syndrome 12", "equivalent_identifiers": ["MONDO:0032839", "DOID:0112170", "OMIM:618624", "UMLS:C5231432", "NCIT:C177120", "medgen:1684730"], "information_content": 100.0}
{"id": "MONDO:0009554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3MC syndrome 3", "equivalent_identifiers": ["MONDO:0009554", "DOID:0060577", "OMIM:248340", "UMLS:C0796032", "MESH:C535704", "medgen:208657"], "information_content": 100.0}
{"id": "NCBIGene:115653", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIR3DL3", "equivalent_identifiers": ["NCBIGene:115653", "ENSEMBL:ENSG00000242019", "HGNC:16312", "OMIM:610095", "UMLS:C1424177", "UniProtKB:A0A8I5QEB2", "ENSEMBL:ENSP00000291860", "ENSEMBL:ENSP00000291860.1", "ENSEMBL:ENSP00000484725", "ENSEMBL:ENSP00000484725.1", "ENSEMBL:ENSP00000492021", "ENSEMBL:ENSP00000492021.1"]}
{"id": "UniProtKB:O76036-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "natural cytotoxicity triggering receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O76036-1", "PR:O76036-1", "ENSEMBL:ENSP00000291890", "ENSEMBL:ENSP00000291890.3"], "information_content": 100.0}
{"id": "NCBIGene:29941", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PKN3", "equivalent_identifiers": ["NCBIGene:29941", "ENSEMBL:ENSG00000160447", "HGNC:17999", "OMIM:610714", "UMLS:C1538661", "UniProtKB:Q6P5Z2", "PR:Q6P5Z2", "ENSEMBL:ENSP00000291906", "ENSEMBL:ENSP00000291906.4", "UMLS:C1569859"], "information_content": 92.8}
{"id": "MONDO:0000499", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-arteritic anterior ischemic optic neuropathy", "equivalent_identifiers": ["MONDO:0000499", "DOID:0050864", "UMLS:C1852242", "MEDDRA:10068242", "MEDDRA:10068245", "MEDDRA:10068246", "MEDDRA:10068249", "medgen:338887", "icd11.foundation:8640162", "HP:0007634"], "information_content": 95.4}
{"id": "UniProtKB:Q86W28-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NACHT, LRR and PYD domains-containing protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86W28-1", "PR:Q86W28-1", "ENSEMBL:ENSP00000291971", "ENSEMBL:ENSP00000291971.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6P2C8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 27 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P2C8-1", "PR:Q6P2C8-1", "ENSEMBL:ENSP00000292035", "ENSEMBL:ENSP00000292035.5"], "information_content": 100.0}
{"id": "UniProtKB:P54710-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/potassium-transporting ATPase subunit gamma isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P54710-1", "PR:P54710-1", "ENSEMBL:ENSP00000292079", "ENSEMBL:ENSP00000292079.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96CP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TLC domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CP7-1", "PR:Q96CP7-1", "ENSEMBL:ENSP00000292090", "ENSEMBL:ENSP00000292090.3"], "information_content": 100.0}
{"id": "MONDO:0009705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carnitine palmitoyl transferase 1A deficiency", "equivalent_identifiers": ["MONDO:0009705", "DOID:0090129", "OMIM:255120", "orphanet:156", "UMLS:C1829703", "MESH:C535588", "NCIT:C98871", "SNOMEDCT:238001003", "medgen:316820"], "information_content": 100.0}
{"id": "NCBIGene:147007", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VMA12", "equivalent_identifiers": ["NCBIGene:147007", "ENSEMBL:ENSG00000244045", "HGNC:18085", "OMIM:616815", "UMLS:C1425293", "UniProtKB:Q8N511", "PR:Q8N511", "ENSEMBL:ENSP00000292114", "ENSEMBL:ENSP00000292114.3", "UMLS:C4506660", "MESH:C000618033"], "information_content": 90.9}
{"id": "UniProtKB:Q00889-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pregnancy-specific beta-1-glycoprotein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q00889-1", "PR:Q00889-1", "ENSEMBL:ENSP00000292125", "ENSEMBL:ENSP00000292125.2"], "information_content": 100.0}
{"id": "MONDO:0006953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rh isoimmunization", "equivalent_identifiers": ["MONDO:0006953", "DOID:4175", "EFO:1001159", "UMLS:C0035404", "MESH:D012203", "MEDDRA:10039016", "MEDDRA:10039038", "MEDDRA:10056231", "MEDDRA:10056232", "NCIT:C113150", "SNOMEDCT:44795003", "medgen:11224"], "information_content": 100.0}
{"id": "UniProtKB:Q6NSJ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology-like domain family B member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NSJ2-1", "PR:Q6NSJ2-1", "ENSEMBL:ENSP00000292140", "ENSEMBL:ENSP00000292140.5"], "information_content": 100.0}
{"id": "NCBIGene:23474", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ETHE1", "equivalent_identifiers": ["NCBIGene:23474", "ENSEMBL:ENSG00000105755", "HGNC:23287", "OMIM:608451", "UMLS:C1428025", "UniProtKB:A0A0S2Z580", "UMLS:C1436654", "MESH:C483228", "UniProtKB:A0A0S2Z5B3", "UniProtKB:A0A0S2Z5N8", "UniProtKB:B2RCZ7", "UniProtKB:O95571", "PR:O95571", "ENSEMBL:ENSP00000292147", "ENSEMBL:ENSP00000292147.1"], "information_content": 95.4}
{"id": "MONDO:0006988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sulfhemoglobinemia", "equivalent_identifiers": ["MONDO:0006988", "DOID:12451", "EFO:1001200", "UMLS:C0038732", "MESH:D013436", "MEDDRA:10042481", "MEDDRA:10042490", "MEDDRA:10055636", "SNOMEDCT:32117000", "medgen:52562"], "information_content": 95.4}
{"id": "NCBIGene:6271", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100A1", "equivalent_identifiers": ["NCBIGene:6271", "ENSEMBL:ENSG00000160678", "HGNC:10486", "OMIM:176940", "UMLS:C1419781", "UniProtKB:A0A0S2Z4H2", "UniProtKB:P23297", "PR:P23297", "ENSEMBL:ENSP00000292169", "ENSEMBL:ENSP00000292169.2", "UMLS:C0174123"], "information_content": 100.0}
{"id": "UniProtKB:P32302-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-X-C chemokine receptor type 5 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P32302-1", "PR:P32302-1", "ENSEMBL:ENSP00000292174", "ENSEMBL:ENSP00000292174.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFF5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FAD synthase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFF5-1", "PR:Q8NFF5-1", "ENSEMBL:ENSP00000292180", "ENSEMBL:ENSP00000292180.3"], "information_content": 100.0}
{"id": "MONDO:0008721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "medium chain acyl-CoA dehydrogenase deficiency", "equivalent_identifiers": ["MONDO:0008721", "DOID:0080153", "OMIM:201450", "orphanet:42", "UMLS:C0220710", "MESH:C536038", "MEDDRA:10072654", "NCIT:C84538", "SNOMEDCT:128596003", "medgen:65086", "icd11.foundation:627734797"], "information_content": 100.0}
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{"id": "MONDO:0004169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premenstrual tension", "equivalent_identifiers": ["MONDO:0004169", "DOID:727", "UMLS:C0376356", "MESH:D011293", "MEDDRA:10036619", "medgen:87683", "ICD10:N94.3", "ICD9:625.4"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z7E8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 Q1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z7E8-1", "PR:Q7Z7E8-1", "ENSEMBL:ENSP00000292211", "ENSEMBL:ENSP00000292211.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NW15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anoctamin-10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NW15-1", "PR:Q9NW15-1", "ENSEMBL:ENSP00000292246", "ENSEMBL:ENSP00000292246.3"], "information_content": 100.0}
{"id": "NCBIGene:1234", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCR5", "equivalent_identifiers": ["NCBIGene:1234", "ENSEMBL:ENSG00000160791", "HGNC:1606", "OMIM:601373", "UMLS:C1332700", "UniProtKB:P51681", "PR:P51681", "ENSEMBL:ENSP00000292303", "ENSEMBL:ENSP00000292303.4", "ENSEMBL:ENSP00000404881", "ENSEMBL:ENSP00000404881.1", "UMLS:C3711103", "MESH:C584933", "UniProtKB:Q38L21"], "information_content": 100.0}
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{"id": "NCBIGene:221914", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPC2", "equivalent_identifiers": ["NCBIGene:221914", "ENSEMBL:ENSG00000213420", "HGNC:4450", "OMIM:618446", "UMLS:C1415194", "UniProtKB:Q8N158", "PR:Q8N158", "ENSEMBL:ENSP00000292377", "ENSEMBL:ENSP00000292377.2", "UMLS:C1609965", "UMLS:C4085631", "MESH:C504454"], "information_content": 95.4}
{"id": "MONDO:0002691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver cancer", "equivalent_identifiers": ["MONDO:0002691", "DOID:3571", "UMLS:C0024620", "UMLS:C0345904", "UMLS:C0854795", "MEDDRA:10007090", "MEDDRA:10007091", "MEDDRA:10019697", "MEDDRA:10019699", "MEDDRA:10019701", "MEDDRA:10019703", "MEDDRA:10019711", "MEDDRA:10024720", "MEDDRA:10024722", "MEDDRA:10024727", "MEDDRA:10025572", "MEDDRA:10025575", "MEDDRA:10025623", "MEDDRA:10025626", "MEDDRA:10025627", "MEDDRA:10025630", "MEDDRA:10026080", "MEDDRA:10026081", "MEDDRA:10036681", "MEDDRA:10036709", "MEDDRA:10073069", "MEDDRA:10073832", "NCIT:C190593", "NCIT:C34803", "NCIT:C7692", "SNOMEDCT:93870000", "SNOMEDCT:95214007", "medgen:87520", "ICD10:C22.0", "ICD10:C22.9", "ICD9:155.0", "ICD9:155.2"], "information_content": 61.2}
{"id": "NCBIGene:563", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AZGP1", "equivalent_identifiers": ["NCBIGene:563", "ENSEMBL:ENSG00000160862", "HGNC:910", "OMIM:194460", "UMLS:C1412706", "UniProtKB:A0A140VK00", "UniProtKB:P25311", "PR:P25311", "ENSEMBL:ENSP00000292401", "ENSEMBL:ENSP00000292401.4", "UMLS:C1505776", "MESH:C488891"], "information_content": 76.4}
{"id": "UniProtKB:P22455-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibroblast growth factor receptor 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P22455-1", "PR:P22455-1", "ENSEMBL:ENSP00000292408", "ENSEMBL:ENSP00000292408.4", "ENSEMBL:ENSP00000424960", "ENSEMBL:ENSP00000424960.1"], "information_content": 100.0}
{"id": "MONDO:0014658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SADDAN", "equivalent_identifiers": ["MONDO:0014658", "DOID:0111158", "OMIM:616482", "orphanet:85165", "UMLS:C2674173", "MEDDRA:10082394", "SNOMEDCT:699870002", "medgen:393098"], "information_content": 100.0}
{"id": "UniProtKB:P15538-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 11B1, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P15538-1", "PR:P15538-1", "ENSEMBL:ENSP00000292427", "ENSEMBL:ENSP00000292427.5"], "information_content": 100.0}
{"id": "UniProtKB:Q17RY6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphocyte antigen 6K isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q17RY6-1", "PR:Q17RY6-1", "ENSEMBL:ENSP00000292430", "ENSEMBL:ENSP00000292430.6"], "information_content": 100.0}
{"id": "NCBIGene:112939", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NACC1", "equivalent_identifiers": ["NCBIGene:112939", "ENSEMBL:ENSG00000160877", "HGNC:20967", "OMIM:610672", "UMLS:C1427213", "UniProtKB:Q96RE7", "PR:Q96RE7", "ENSEMBL:ENSP00000292431", "ENSEMBL:ENSP00000292431.3", "ENSEMBL:ENSP00000467120", "ENSEMBL:ENSP00000467120.2", "ENSEMBL:ENSP00000514870", "ENSEMBL:ENSP00000514870.1", "UMLS:C1872726", "MESH:C516477"], "information_content": 95.4}
{"id": "NCBIGene:3101", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HK3", "equivalent_identifiers": ["NCBIGene:3101", "ENSEMBL:ENSG00000160883", "HGNC:4925", "OMIM:142570", "UMLS:C1415556", "UniProtKB:P52790", "PR:P52790", "ENSEMBL:ENSP00000292432", "ENSEMBL:ENSP00000292432.5"], "information_content": 100.0}
{"id": "NCBIGene:7589", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZSCAN21", "equivalent_identifiers": ["NCBIGene:7589", "ENSEMBL:ENSG00000166529", "HGNC:13104", "OMIM:601261", "UMLS:C1824083", "UniProtKB:G3V0F4", "ENSEMBL:ENSP00000390960", "ENSEMBL:ENSP00000390960.2", "UniProtKB:Q9Y5A6", "PR:Q9Y5A6", "ENSEMBL:ENSP00000292450", "ENSEMBL:ENSP00000292450.4", "UMLS:C1721834", "MESH:C510393"], "information_content": 100.0}
{"id": "UniProtKB:O95639-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cleavage and polyadenylation specificity factor subunit 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95639-1", "PR:O95639-1", "ENSEMBL:ENSP00000292476", "ENSEMBL:ENSP00000292476.5"], "information_content": 100.0}
{"id": "MONDO:0017610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex", "equivalent_identifiers": ["MONDO:0017610", "DOID:4644", "OMIM.PS:131760", "orphanet:304", "UMLS:C0079298", "MESH:D016110", "MEDDRA:10087382", "NCIT:C84692", "SNOMEDCT:67144006", "medgen:86896", "icd11.foundation:1860717527"], "information_content": 79.0}
{"id": "NCBIGene:26024", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTCD1", "equivalent_identifiers": ["NCBIGene:26024", "ENSEMBL:ENSG00000106246", "HGNC:22198", "OMIM:614774", "UMLS:C1427759", "UniProtKB:A4D273", "UMLS:C2742683", "MESH:C544933", "UniProtKB:O75127", "PR:O75127", "ENSEMBL:ENSP00000292478", "ENSEMBL:ENSP00000292478.5"], "information_content": 95.4}
{"id": "NCBIGene:5731", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTGER1", "equivalent_identifiers": ["NCBIGene:5731", "ENSEMBL:ENSG00000160951", "HGNC:9593", "OMIM:176802", "UMLS:C1419061", "UniProtKB:P34995", "PR:P34995", "ENSEMBL:ENSP00000292513", "ENSEMBL:ENSP00000292513.3", "UMLS:C1568831", "MESH:C545635"], "information_content": 100.0}
{"id": "NCBIGene:9684", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC14", "equivalent_identifiers": ["NCBIGene:9684", "ENSEMBL:ENSG00000160959", "HGNC:20419", "OMIM:619368", "UMLS:C1426927", "UniProtKB:Q15048", "PR:Q15048", "ENSEMBL:ENSP00000292524", "ENSEMBL:ENSP00000292524.1", "ENSEMBL:ENSP00000434768", "ENSEMBL:ENSP00000434768.1"], "information_content": 95.4}
{"id": "MONDO:0001238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polycythemia neonatorum", "equivalent_identifiers": ["MONDO:0001238", "DOID:11242", "UMLS:C0272153", "MEDDRA:10036059", "MEDDRA:10060476", "NCIT:C27069", "SNOMEDCT:32984002", "medgen:78794", "ICD10:P61.1", "ICD9:776.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96JL9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 333 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JL9-1", "PR:Q96JL9-1", "ENSEMBL:ENSP00000292530", "ENSEMBL:ENSP00000292530.5"], "information_content": 100.0}
{"id": "NCBIGene:90987", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF251", "equivalent_identifiers": ["NCBIGene:90987", "ENSEMBL:ENSG00000198169", "HGNC:13045", "UMLS:C1421740", "UniProtKB:Q9BRH9", "PR:Q9BRH9", "ENSEMBL:ENSP00000292562", "ENSEMBL:ENSP00000292562.7", "ENSEMBL:ENSP00000477765", "ENSEMBL:ENSP00000477765.1"], "information_content": 100.0}
{"id": "MONDO:0006280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung sclerosing hemangioma", "equivalent_identifiers": ["MONDO:0006280", "DOID:495", "DOID:5766", "EFO:1000337", "UMLS:C1334455", "UMLS:C1509148", "MESH:D047868", "MEDDRA:10019402", "MEDDRA:10055904", "MEDDRA:10081106", "NCIT:C5656", "SNOMEDCT:707365008", "SNOMEDCT:725967000", "medgen:734262"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXW9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-ketoglutarate-dependent dioxygenase alkB homolog 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXW9-1", "PR:Q9NXW9-1", "ENSEMBL:ENSP00000292566", "ENSEMBL:ENSP00000292566.3"], "information_content": 100.0}
{"id": "MONDO:0006234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "grade III prostatic intraepithelial neoplasia", "equivalent_identifiers": ["MONDO:0006234", "DOID:8634", "EFO:1000283", "UMLS:C0154088", "UMLS:C5200982", "MEDDRA:10007385", "NCIT:C3642", "SNOMEDCT:446711009", "SNOMEDCT:92691004", "medgen:1684800", "ICD10:D07.5", "ICD9:233.4"], "information_content": 100.0}
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{"id": "NCBIGene:4056", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LTC4S", "equivalent_identifiers": ["NCBIGene:4056", "ENSEMBL:ENSG00000213316", "HGNC:6719", "OMIM:246530", "UMLS:C1416932", "UniProtKB:Q16873", "PR:Q16873", "ENSEMBL:ENSP00000292596", "ENSEMBL:ENSP00000292596.10", "ENSEMBL:ENSP00000492334", "ENSEMBL:ENSP00000492334.1"], "information_content": 95.4}
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{"id": "UniProtKB:Q6P3V2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 585A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P3V2-1", "PR:Q6P3V2-1", "ENSEMBL:ENSP00000292841", "ENSEMBL:ENSP00000292841.7"], "information_content": 100.0}
{"id": "MONDO:0020681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "equivalent_identifiers": ["MONDO:0020681", "DOID:0080736", "OMIM:601776", "NCIT:C168975"], "information_content": 100.0}
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{"id": "UniProtKB:Q8WU68-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "splicing factor U2AF 26 kDa subunit isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WU68-2", "PR:Q8WU68-2", "ENSEMBL:ENSP00000292879", "ENSEMBL:ENSP00000292879.4"], "information_content": 100.0}
{"id": "MONDO:0011519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 23", "equivalent_identifiers": ["MONDO:0011519", "DOID:0110553", "OMIM:605192", "UMLS:C1854594", "MESH:C565357", "medgen:343162"], "information_content": 100.0}
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{"id": "NCBIGene:1346", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX7A1", "equivalent_identifiers": ["NCBIGene:1346", "ENSEMBL:ENSG00000161281", "HGNC:2287", "OMIM:123995", "UMLS:C1413655", "UniProtKB:P24310", "PR:P24310", "ENSEMBL:ENSP00000292907", "ENSEMBL:ENSP00000292907.3", "UMLS:C1738935", "MESH:C513901", "UniProtKB:Q6FGI7"], "information_content": 95.4}
{"id": "UniProtKB:Q96SR6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 382 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96SR6-1", "PR:Q96SR6-1", "ENSEMBL:ENSP00000292928", "ENSEMBL:ENSP00000292928.2"], "information_content": 100.0}
{"id": "NCBIGene:2905", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRIN2C", "equivalent_identifiers": ["NCBIGene:2905", "ENSEMBL:ENSG00000161509", "HGNC:4587", "OMIM:138254", "UMLS:C1415301", "UniProtKB:A0A8D9PH81", "UMLS:C4743497", "MESH:C000629432", "UniProtKB:H0Y2V8", "ENSEMBL:ENSP00000338645", "ENSEMBL:ENSP00000338645.4", "UniProtKB:O15398", "UniProtKB:Q14957", "PR:Q14957", "ENSEMBL:ENSP00000293190", "ENSEMBL:ENSP00000293190.5", "UniProtKB:Q8IW23"], "information_content": 92.8}
{"id": "UniProtKB:Q15067-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal acyl-coenzyme A oxidase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15067-2", "PR:Q15067-2", "ENSEMBL:ENSP00000293217", "ENSEMBL:ENSP00000293217.4"], "information_content": 100.0}
{"id": "NCBIGene:114757", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYGB", "equivalent_identifiers": ["NCBIGene:114757", "ENSEMBL:ENSG00000161544", "HGNC:16505", "OMIM:608759", "UMLS:C1424337", "UniProtKB:Q8WWM9", "PR:Q8WWM9", "ENSEMBL:ENSP00000293230", "ENSEMBL:ENSP00000293230.4"], "information_content": 95.4}
{"id": "NCBIGene:56344", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CABP5", "equivalent_identifiers": ["NCBIGene:56344", "ENSEMBL:ENSG00000105507", "HGNC:13714", "OMIM:607315", "UMLS:C1422158", "UniProtKB:Q9NP86", "PR:Q9NP86", "ENSEMBL:ENSP00000293255", "ENSEMBL:ENSP00000293255.1"], "information_content": 95.4}
{"id": "UniProtKB:Q07812-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptosis regulator BAX isoform beta (human)", "equivalent_identifiers": ["UniProtKB:Q07812-2", "PR:Q07812-2", "ENSEMBL:ENSP00000293288", "ENSEMBL:ENSP00000293288.8"], "information_content": 100.0}
{"id": "NCBIGene:317719", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHL10", "equivalent_identifiers": ["NCBIGene:317719", "ENSEMBL:ENSG00000161594", "HGNC:18829", "OMIM:608778", "UMLS:C1425807", "UniProtKB:A0A140VJM8", "UMLS:C1453402", "MESH:C487516", "UniProtKB:B4DX37", "UniProtKB:Q6JEL2", "PR:Q6JEL2", "ENSEMBL:ENSP00000293303", "ENSEMBL:ENSP00000293303.4"], "information_content": 95.4}
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{"id": "NCBIGene:3060", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HCRT", "equivalent_identifiers": ["NCBIGene:3060", "ENSEMBL:ENSG00000161610", "HGNC:4847", "OMIM:602358", "UMLS:C1415500", "UniProtKB:O43612", "PR:O43612", "ENSEMBL:ENSP00000293330", "ENSEMBL:ENSP00000293330.1", "UMLS:C1527908", "MESH:C000596229"], "information_content": 95.4}
{"id": "MONDO:0010808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fatal familial insomnia", "equivalent_identifiers": ["MONDO:0010808", "DOID:0050433", "OMIM:600072", "orphanet:466", "UMLS:C0206042", "MESH:D034062", "MEDDRA:10072077", "NCIT:C84711", "SNOMEDCT:83157008", "medgen:104768", "icd11.foundation:669154658", "ICD10:A81.83", "ICD9:046.72"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZ83-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aldehyde dehydrogenase family 16 member A1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZ83-1", "PR:Q8IZ83-1", "ENSEMBL:ENSP00000293350", "ENSEMBL:ENSP00000293350.3"], "information_content": 100.0}
{"id": "UniProtKB:P61289-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome activator complex subunit 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P61289-2", "PR:P61289-2", "ENSEMBL:ENSP00000293362", "ENSEMBL:ENSP00000293362.1"], "information_content": 100.0}
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{"id": "NCBIGene:162417", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAGS", "equivalent_identifiers": ["NCBIGene:162417", "ENSEMBL:ENSG00000161653", "HGNC:17996", "OMIM:608300", "UMLS:C1540311", "UniProtKB:Q2NKP2", "UniProtKB:Q8N159", "PR:Q8N159", "ENSEMBL:ENSP00000293404", "ENSEMBL:ENSP00000293404.2", "UMLS:C1530848", "MESH:C494874"], "information_content": 95.4}
{"id": "MONDO:0011346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xanthinuria type II", "equivalent_identifiers": ["MONDO:0011346", "DOID:0070453", "OMIM:603592", "orphanet:93602", "UMLS:C1863688", "MESH:C566358", "medgen:350953"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y566-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH3 and multiple ankyrin repeat domains protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y566-1", "PR:Q9Y566-1", "ENSEMBL:ENSP00000293441", "ENSEMBL:ENSP00000293441.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6PF04-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 613 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PF04-1", "PR:Q6PF04-1", "ENSEMBL:ENSP00000293471", "ENSEMBL:ENSP00000293471.5"], "information_content": 100.0}
{"id": "NCBIGene:121214", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDR9C7", "equivalent_identifiers": ["NCBIGene:121214", "ENSEMBL:ENSG00000170426", "HGNC:29958", "OMIM:609769", "UMLS:C1853366", "UniProtKB:Q8NEX9", "PR:Q8NEX9", "ENSEMBL:ENSP00000293502", "ENSEMBL:ENSP00000293502.1", "UMLS:C1174185", "MESH:C471160"], "information_content": 95.4}
{"id": "NCBIGene:7471", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT1", "equivalent_identifiers": ["NCBIGene:7471", "ENSEMBL:ENSG00000125084", "HGNC:12774", "OMIM:164820", "UMLS:C0812233", "UniProtKB:P04628", "PR:P04628", "ENSEMBL:ENSP00000293549", "ENSEMBL:ENSP00000293549.3", "UMLS:C1453742", "MESH:C495247"], "information_content": 89.4}
{"id": "NCBIGene:362", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AQP5", "equivalent_identifiers": ["NCBIGene:362", "ENSEMBL:ENSG00000161798", "HGNC:638", "OMIM:600442", "UMLS:C1412495", "UniProtKB:P55064", "PR:P55064", "ENSEMBL:ENSP00000293599", "ENSEMBL:ENSP00000293599.5", "UMLS:C1565414", "MESH:C496036"], "information_content": 95.4}
{"id": "UniProtKB:Q5SQH8-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C6orf136 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q5SQH8-4", "PR:Q5SQH8-4", "ENSEMBL:ENSP00000293604", "ENSEMBL:ENSP00000293604.6", "ENSEMBL:ENSP00000499201", "ENSEMBL:ENSP00000499201.1"], "information_content": 100.0}
{"id": "MONDO:0012549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive ataxia, Beauce type", "equivalent_identifiers": ["MONDO:0012549", "DOID:0111618", "OMIM:610743", "orphanet:88644", "UMLS:C1853116", "MESH:C565188", "medgen:343973"], "information_content": 100.0}
{"id": "NCBIGene:1990", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CELA1", "equivalent_identifiers": ["NCBIGene:1990", "ENSEMBL:ENSG00000139610", "HGNC:3308", "OMIM:130120", "UMLS:C1414368", "UniProtKB:Q9UNI1", "PR:Q9UNI1", "ENSEMBL:ENSP00000293636", "ENSEMBL:ENSP00000293636.1", "UMLS:C4042631", "MESH:C000595173"], "information_content": 100.0}
{"id": "MONDO:0008954", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 2A (Zellweger)", "equivalent_identifiers": ["MONDO:0008954", "DOID:0080477", "OMIM:214110", "UMLS:C3550273", "NCIT:C155750", "medgen:763187"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6J2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein TAMALIN isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6J2-1", "PR:Q7Z6J2-1", "ENSEMBL:ENSP00000293662", "ENSEMBL:ENSP00000293662.4"], "information_content": 100.0}
{"id": "NCBIGene:3889", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT83", "equivalent_identifiers": ["NCBIGene:3889", "ENSEMBL:ENSG00000170523", "HGNC:6460", "OMIM:602765", "UMLS:C1825770", "UniProtKB:P78385", "PR:P78385", "ENSEMBL:ENSP00000293670", "ENSEMBL:ENSP00000293670.3", "UMLS:C1689300", "MESH:C507602"], "information_content": 100.0}
{"id": "NCBIGene:256126", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYCE2", "equivalent_identifiers": ["NCBIGene:256126", "ENSEMBL:ENSG00000161860", "HGNC:27411", "OMIM:611487", "UMLS:C1823158", "UniProtKB:Q6PIF2", "PR:Q6PIF2", "ENSEMBL:ENSP00000293695", "ENSEMBL:ENSP00000293695.6"], "information_content": 100.0}
{"id": "UniProtKB:Q14CN4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin, type II cytoskeletal 72 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14CN4-1", "PR:Q14CN4-1", "ENSEMBL:ENSP00000293745", "ENSEMBL:ENSP00000293745.2", "ENSEMBL:ENSP00000441160", "ENSEMBL:ENSP00000441160.2"], "information_content": 100.0}
{"id": "NCBIGene:117283", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IP6K3", "equivalent_identifiers": ["NCBIGene:117283", "ENSEMBL:ENSG00000161896", "HGNC:17269", "OMIM:606993", "UMLS:C1424861", "UniProtKB:A8K1M0", "UMLS:C1432328", "UniProtKB:Q5TAQ4", "UniProtKB:Q96PC2", "PR:Q96PC2", "ENSEMBL:ENSP00000293756", "ENSEMBL:ENSP00000293756.4", "ENSEMBL:ENSP00000398861", "ENSEMBL:ENSP00000398861.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NC56-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LEM domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NC56-1", "PR:Q8NC56-1", "ENSEMBL:ENSP00000293760", "ENSEMBL:ENSP00000293760.5"], "information_content": 100.0}
{"id": "UniProtKB:P16050-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyunsaturated fatty acid lipoxygenase ALOX15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P16050-1", "PR:P16050-1", "ENSEMBL:ENSP00000293761", "ENSEMBL:ENSP00000293761.3", "ENSEMBL:ENSP00000458832", "ENSEMBL:ENSP00000458832.1"], "information_content": 100.0}
{"id": "NCBIGene:115950", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF653", "equivalent_identifiers": ["NCBIGene:115950", "ENSEMBL:ENSG00000161914", "HGNC:25196", "OMIM:611371", "UMLS:C1538221", "UniProtKB:Q96CK0", "PR:Q96CK0", "ENSEMBL:ENSP00000293771", "ENSEMBL:ENSP00000293771.3"], "information_content": 100.0}
{"id": "NCBIGene:400569", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MED11", "equivalent_identifiers": ["NCBIGene:400569", "ENSEMBL:ENSG00000161920", "HGNC:32687", "OMIM:612383", "UMLS:C1825960", "UniProtKB:I3L3E8", "ENSEMBL:ENSP00000460400", "ENSEMBL:ENSP00000460400.1", "UMLS:C5771878", "MESH:C000726063", "UniProtKB:Q9P086", "PR:Q9P086", "ENSEMBL:ENSP00000293777", "ENSEMBL:ENSP00000293777.5"], "information_content": 95.4}
{"id": "MONDO:0000914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CADASIL 1", "equivalent_identifiers": ["MONDO:0000914", "DOID:0111035", "OMIM:125310", "orphanet:136", "UMLS:C4551768", "MESH:D046589", "NCIT:C84606", "SNOMEDCT:390936003", "medgen:1634330", "icd11.foundation:1621899838", "ICD10:F01.1"], "information_content": 92.8}
{"id": "NCBIGene:58191", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCL16", "equivalent_identifiers": ["NCBIGene:58191", "ENSEMBL:ENSG00000161921", "HGNC:16642", "OMIM:605398", "UMLS:C1424460", "UniProtKB:Q9H2A7", "PR:Q9H2A7", "ENSEMBL:ENSP00000293778", "ENSEMBL:ENSP00000293778.7", "ENSEMBL:ENSP00000459592", "ENSEMBL:ENSP00000459592.2", "UMLS:C1433141", "UMLS:C3543836", "MESH:C423727"], "information_content": 86.3}
{"id": "NCBIGene:255877", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCL6B", "equivalent_identifiers": ["NCBIGene:255877", "ENSEMBL:ENSG00000161940", "HGNC:1002", "OMIM:608992", "UMLS:C1412766", "UniProtKB:A8KA13", "UMLS:C1436422", "MESH:C486398", "UniProtKB:Q8N143", "PR:Q8N143", "ENSEMBL:ENSP00000293805", "ENSEMBL:ENSP00000293805.5"], "information_content": 100.0}
{"id": "UniProtKB:O43508-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor ligand superfamily member 12 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43508-1", "PR:O43508-1", "ENSEMBL:ENSP00000293825", "ENSEMBL:ENSP00000293825.6"], "information_content": 100.0}
{"id": "NCBIGene:407977", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFSF12-TNFSF13", "equivalent_identifiers": ["NCBIGene:407977", "ENSEMBL:ENSG00000248871", "HGNC:33537", "UMLS:C2828882", "UniProtKB:A0A0A6YY99", "ENSEMBL:ENSP00000293826"]}
{"id": "NCBIGene:2256", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGF11", "equivalent_identifiers": ["NCBIGene:2256", "ENSEMBL:ENSG00000161958", "HGNC:3667", "OMIM:601514", "UMLS:C1414596", "UniProtKB:A0A7U3JVZ5", "UMLS:C4276518", "MESH:C000609548", "UniProtKB:B7Z1C3", "UniProtKB:Q92914", "PR:Q92914", "ENSEMBL:ENSP00000293829", "ENSEMBL:ENSP00000293829.4", "ENSEMBL:ENSP00000491684", "ENSEMBL:ENSP00000491684.1"], "information_content": 95.4}
{"id": "UniProtKB:P60842-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic initiation factor 4A-I isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P60842-1", "PR:P60842-1", "ENSEMBL:ENSP00000293831", "ENSEMBL:ENSP00000293831.8"], "information_content": 100.0}
{"id": "UniProtKB:Q96M95-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 42 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96M95-1", "PR:Q96M95-1", "ENSEMBL:ENSP00000293845", "ENSEMBL:ENSP00000293845.3"], "information_content": 100.0}
{"id": "NCBIGene:51728", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR3K", "equivalent_identifiers": ["NCBIGene:51728", "ENSEMBL:ENSG00000161980", "HGNC:14121", "OMIM:606007", "UMLS:C1422418", "UniProtKB:Q9Y2Y1", "PR:Q9Y2Y1", "ENSEMBL:ENSP00000293860", "ENSEMBL:ENSP00000293860.5", "UMLS:C4521468"], "information_content": 90.9}
{"id": "MONDO:0016162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral frontal polymicrogyria", "equivalent_identifiers": ["MONDO:0016162", "DOID:0080921", "orphanet:208444", "UMLS:C5437679", "SNOMEDCT:890285006", "medgen:1754014", "icd11.foundation:688947844"], "information_content": 95.4}
{"id": "UniProtKB:Q9NQ29-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative RNA-binding protein Luc7-like 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ29-1", "PR:Q9NQ29-1", "ENSEMBL:ENSP00000293872", "ENSEMBL:ENSP00000293872.8"], "information_content": 100.0}
{"id": "UniProtKB:Q96KV7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 90 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96KV7-1", "PR:Q96KV7-1", "ENSEMBL:ENSP00000293879", "ENSEMBL:ENSP00000293879.4"], "information_content": 100.0}
{"id": "MONDO:0012427", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loeys-Dietz syndrome 2", "equivalent_identifiers": ["MONDO:0012427", "DOID:0070234", "OMIM:610168", "UMLS:C2674574", "UMLS:C2931058", "MESH:C537783", "NCIT:C114768", "medgen:382398"], "information_content": 100.0}
{"id": "NCBIGene:84219", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR24", "equivalent_identifiers": ["NCBIGene:84219", "ENSEMBL:ENSG00000127580", "HGNC:20852", "OMIM:620307", "UMLS:C1427159", "UniProtKB:Q96S15", "PR:Q96S15", "ENSEMBL:ENSP00000293883", "ENSEMBL:ENSP00000293883.4", "UMLS:C4079555", "MESH:C000604233"], "information_content": 92.8}
{"id": "MONDO:0019147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myiasis", "equivalent_identifiers": ["MONDO:0019147", "DOID:11080", "orphanet:75110", "EFO:0007389", "UMLS:C0027030", "MESH:D009198", "MEDDRA:10028586", "NCIT:C128400", "SNOMEDCT:60412004", "medgen:10148", "icd11.foundation:1367149207", "ICD10:B87", "ICD9:134.0"], "information_content": 83.6}
{"id": "UniProtKB:A2IDD5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 78 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2IDD5-1", "PR:A2IDD5-1", "ENSEMBL:ENSP00000293889", "ENSEMBL:ENSP00000293889.6"], "information_content": 100.0}
{"id": "NCBIGene:30812", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOX8", "equivalent_identifiers": ["NCBIGene:30812", "ENSEMBL:ENSG00000005513", "HGNC:11203", "OMIM:605923", "UMLS:C1420330", "UniProtKB:P57073", "PR:P57073", "ENSEMBL:ENSP00000293894", "ENSEMBL:ENSP00000293894.3", "UMLS:C1449365", "MESH:C406240"], "information_content": 92.8}
{"id": "NCBIGene:6755", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSTR5", "equivalent_identifiers": ["NCBIGene:6755", "ENSEMBL:ENSG00000162009", "HGNC:11334", "OMIM:182455", "UMLS:C1335870", "UniProtKB:P35346", "PR:P35346", "ENSEMBL:ENSP00000293897", "ENSEMBL:ENSP00000293897.4", "ENSEMBL:ENSP00000508487", "ENSEMBL:ENSP00000508487.1", "ENSEMBL:ENSP00000518810", "ENSEMBL:ENSP00000518810.1", "UMLS:C1568739"], "information_content": 100.0}
{"id": "MONDO:0003604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "functioning pituitary gland neoplasm", "equivalent_identifiers": ["MONDO:0003604", "DOID:5716", "UMLS:C0851693", "UMLS:C3163678", "MEDDRA:10035099", "SNOMEDCT:448148000", "medgen:163414"], "information_content": 84.8}
{"id": "MONDO:0000386", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "digestive system neuroendocrine tumor, grade 1/2", "equivalent_identifiers": ["MONDO:0000386", "DOID:0050626", "UMLS:C2930967", "MEDDRA:10090770", "MEDDRA:10090773", "NCIT:C95404", "medgen:443945"], "information_content": 62.9}
{"id": "MONDO:0858916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary blastoma", "equivalent_identifiers": ["MONDO:0858916", "DOID:0081244", "UMLS:C4743978", "NCIT:C155304", "medgen:1656462", "HP:0034921"], "information_content": 100.0}
{"id": "NCBIGene:4917", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NTN3", "equivalent_identifiers": ["NCBIGene:4917", "ENSEMBL:ENSG00000162068", "HGNC:8030", "OMIM:602349", "UMLS:C1417868", "UniProtKB:O00634", "PR:O00634", "ENSEMBL:ENSP00000293973", "ENSEMBL:ENSP00000293973.1"], "information_content": 92.8}
{"id": "UniProtKB:Q8IY92-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "structure-specific endonuclease subunit SLX4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY92-1", "PR:Q8IY92-1", "ENSEMBL:ENSP00000294008", "ENSEMBL:ENSP00000294008.3"], "information_content": 100.0}
{"id": "NCBIGene:115", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADCY9", "equivalent_identifiers": ["NCBIGene:115", "ENSEMBL:ENSG00000162104", "HGNC:240", "OMIM:603302", "UMLS:C1332025", "UniProtKB:O60503", "PR:O60503", "ENSEMBL:ENSP00000294016", "ENSEMBL:ENSP00000294016.3", "UMLS:C1137703"], "information_content": 92.8}
{"id": "UniProtKB:Q9H078-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial disaggregase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H078-1", "PR:Q9H078-1", "ENSEMBL:ENSP00000294053", "ENSEMBL:ENSP00000294053.3"], "information_content": 100.0}
{"id": "MONDO:0002687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "superior mesenteric artery syndrome", "equivalent_identifiers": ["MONDO:0002687", "DOID:3557", "orphanet:622099", "EFO:1001201", "UMLS:C0038828", "MESH:D013478", "MEDDRA:10054156", "NCIT:C85175", "SNOMEDCT:197006009", "medgen:21404"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQ49-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialidase-3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ49-2", "PR:Q9UQ49-2", "ENSEMBL:ENSP00000294064", "ENSEMBL:ENSP00000294064.4", "ENSEMBL:ENSP00000432097", "ENSEMBL:ENSP00000432097.1"], "information_content": 100.0}
{"id": "UniProtKB:Q12851-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase kinase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q12851-1", "PR:Q12851-1", "ENSEMBL:ENSP00000294066", "ENSEMBL:ENSP00000294066.2"], "information_content": 100.0}
{"id": "NCBIGene:2785", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNG3", "equivalent_identifiers": ["NCBIGene:2785", "ENSEMBL:ENSG00000162188", "HGNC:4405", "OMIM:608941", "UMLS:C1415156", "UniProtKB:P63215", "PR:P63215", "ENSEMBL:ENSP00000294117", "ENSEMBL:ENSP00000294117.5"], "information_content": 95.4}
{"id": "UniProtKB:Q04323-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UBX domain-containing protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q04323-2", "PR:Q04323-2", "ENSEMBL:ENSP00000294119", "ENSEMBL:ENSP00000294119.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZQ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NCK-interacting protein with SH3 domain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZQ3-1", "PR:Q9NZQ3-1", "ENSEMBL:ENSP00000294129", "ENSEMBL:ENSP00000294129.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13190-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13190-1", "PR:Q13190-1", "ENSEMBL:ENSP00000294179", "ENSEMBL:ENSP00000294179.3"], "information_content": 100.0}
{"id": "NCBIGene:6159", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL29", "equivalent_identifiers": ["NCBIGene:6159", "ENSEMBL:ENSG00000162244", "HGNC:10331", "OMIM:601832", "UMLS:C1335638", "UniProtKB:P47914", "PR:P47914", "ENSEMBL:ENSP00000294189", "ENSEMBL:ENSP00000294189.4", "ENSEMBL:ENSP00000417048", "ENSEMBL:ENSP00000417048.1", "ENSEMBL:ENSP00000418153", "ENSEMBL:ENSP00000418153.1", "ENSEMBL:ENSP00000418346", "ENSEMBL:ENSP00000418346.1", "ENSEMBL:ENSP00000418868", "ENSEMBL:ENSP00000418868.1", "ENSEMBL:ENSP00000420673", "ENSEMBL:ENSP00000420673.1", "UMLS:C1430701", "MESH:C104946"], "information_content": 92.8}
{"id": "NCBIGene:7542", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFPL1", "equivalent_identifiers": ["NCBIGene:7542", "ENSEMBL:ENSG00000162300", "HGNC:12868", "OMIM:619397", "UMLS:C1421577", "UniProtKB:O95159", "PR:O95159", "ENSEMBL:ENSP00000294258", "ENSEMBL:ENSP00000294258.3", "UMLS:C1308726", "MESH:C114477"], "information_content": 92.8}
{"id": "MONDO:0013325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COG5-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013325", "DOID:0070261", "OMIM:613612", "orphanet:263487", "UMLS:C3150876", "SNOMEDCT:721100009", "medgen:462226"], "information_content": 100.0}
{"id": "UniProtKB:Q9NPB3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-binding protein 2 isoform hL-CaBP2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPB3-1", "PR:Q9NPB3-1", "ENSEMBL:ENSP00000294288", "ENSEMBL:ENSP00000294288.4"], "information_content": 100.0}
{"id": "MONDO:0015262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachyolmia", "equivalent_identifiers": ["MONDO:0015262", "DOID:0050690", "orphanet:1293", "UMLS:C0432228", "MESH:C537098", "MEDDRA:10081832", "SNOMEDCT:254088006", "medgen:96584", "icd11.foundation:1255949169"], "information_content": 88.2}
{"id": "NCBIGene:4041", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRP5", "equivalent_identifiers": ["NCBIGene:4041", "ENSEMBL:ENSG00000162337", "HGNC:6697", "OMIM:603506", "UMLS:C1416917", "UniProtKB:O75197", "PR:O75197", "ENSEMBL:ENSP00000294304", "ENSEMBL:ENSP00000294304.6", "UMLS:C1313729", "MESH:C555482"], "information_content": 95.4}
{"id": "NCBIGene:219931", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPCN2", "equivalent_identifiers": ["NCBIGene:219931", "ENSEMBL:ENSG00000162341", "HGNC:20820", "OMIM:612163", "UMLS:C1427150", "UniProtKB:Q59G56", "UniProtKB:Q8NHX9", "PR:Q8NHX9", "ENSEMBL:ENSP00000294309", "ENSEMBL:ENSP00000294309.3", "UMLS:C2355196", "MESH:C530224"], "information_content": 95.4}
{"id": "NCBIGene:9965", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGF19", "equivalent_identifiers": ["NCBIGene:9965", "ENSEMBL:ENSG00000162344", "HGNC:3675", "OMIM:603891", "UMLS:C1414603", "UniProtKB:A0A7U3L4E7", "UniProtKB:O95750", "PR:O95750", "ENSEMBL:ENSP00000294312", "ENSEMBL:ENSP00000294312.3", "UMLS:C1431711", "MESH:C117476"], "information_content": 89.4}
{"id": "NCBIGene:10158", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDZK1IP1", "equivalent_identifiers": ["NCBIGene:10158", "ENSEMBL:ENSG00000162366", "HGNC:16887", "OMIM:607178", "UMLS:C1538615", "UniProtKB:Q13113", "PR:Q13113", "ENSEMBL:ENSP00000294338", "ENSEMBL:ENSP00000294338.2", "ENSEMBL:ENSP00000360952", "ENSEMBL:ENSP00000360952.1", "UMLS:C0391485", "UMLS:C1435069", "MESH:C509768"], "information_content": 100.0}
{"id": "UniProtKB:P17542-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell acute lymphocytic leukemia protein 1 isoform hPP42-TAL1 (human)", "equivalent_identifiers": ["UniProtKB:P17542-1", "PR:P17542-1", "ENSEMBL:ENSP00000294339", "ENSEMBL:ENSP00000294339.3", "ENSEMBL:ENSP00000360951", "ENSEMBL:ENSP00000360951.1", "ENSEMBL:ENSP00000510655", "ENSEMBL:ENSP00000510655.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0D3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein zyg-11 homolog B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0D3-1", "PR:Q9C0D3-1", "ENSEMBL:ENSP00000294353", "ENSEMBL:ENSP00000294353.6"], "information_content": 100.0}
{"id": "NCBIGene:23358", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP24", "equivalent_identifiers": ["NCBIGene:23358", "ENSEMBL:ENSG00000162402", "HGNC:12623", "OMIM:610569", "UMLS:C1421401", "UniProtKB:Q9UPU5", "PR:Q9UPU5", "ENSEMBL:ENSP00000294383", "ENSEMBL:ENSP00000294383.5", "UMLS:C1742198", "MESH:C513810"], "information_content": 92.8}
{"id": "UniProtKB:P18577-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "blood group Rh(CE) polypeptide isoform RHI (human)", "equivalent_identifiers": ["UniProtKB:P18577-1", "PR:P18577-1", "ENSEMBL:ENSP00000294413", "ENSEMBL:ENSP00000294413.6"], "information_content": 100.0}
{"id": "NCBIGene:116362", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBP7", "equivalent_identifiers": ["NCBIGene:116362", "ENSEMBL:ENSG00000162444", "HGNC:30316", "OMIM:608604", "UMLS:C1428959", "UniProtKB:Q96R05", "PR:Q96R05", "ENSEMBL:ENSP00000294435", "ENSEMBL:ENSP00000294435.7", "UMLS:C1872480", "MESH:C422994"], "information_content": 95.4}
{"id": "UniProtKB:Q9P2K9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein dispatched homolog 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2K9-1", "PR:Q9P2K9-1", "ENSEMBL:ENSP00000294484", "ENSEMBL:ENSP00000294484.6"], "information_content": 100.0}
{"id": "MONDO:0007280", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 8 multiple types", "equivalent_identifiers": ["MONDO:0007280", "DOID:0110228", "OMIM:115665", "UMLS:C1861833", "MESH:C538285", "medgen:396230"], "information_content": 100.0}
{"id": "MONDO:0003046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anus neoplasm", "equivalent_identifiers": ["MONDO:0003046", "DOID:4551", "EFO:0003835", "UMLS:C0003463", "MESH:D001005", "MEDDRA:10002164", "MEDDRA:10061629", "NCIT:C2877", "SNOMEDCT:126849006", "medgen:360", "HP:0032186"], "information_content": 69.4}
{"id": "NCBIGene:374946", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRAXIN", "equivalent_identifiers": ["NCBIGene:374946", "ENSEMBL:ENSG00000162490", "HGNC:25054", "OMIM:612682", "UMLS:C1823801", "UniProtKB:Q8NBI3", "PR:Q8NBI3", "ENSEMBL:ENSP00000294485", "ENSEMBL:ENSP00000294485.5", "UMLS:C2744668", "MESH:C545900"], "information_content": 92.8}
{"id": "UniProtKB:Q86YL7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "podoplanin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q86YL7-3", "PR:Q86YL7-3", "ENSEMBL:ENSP00000294489", "ENSEMBL:ENSP00000294489.6"], "information_content": 100.0}
{"id": "NCBIGene:7805", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LAPTM5", "equivalent_identifiers": ["NCBIGene:7805", "ENSEMBL:ENSG00000162511", "HGNC:29612", "OMIM:601476", "UMLS:C1537525", "UniProtKB:Q13571", "PR:Q13571", "ENSEMBL:ENSP00000294507", "ENSEMBL:ENSP00000294507.3", "UMLS:C0528585", "MESH:C100848", "UniProtKB:Q5TBB8"], "information_content": 87.2}
{"id": "UniProtKB:Q5TGY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane and coiled-coil domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TGY1-1", "PR:Q5TGY1-1", "ENSEMBL:ENSP00000294543", "ENSEMBL:ENSP00000294543.6"], "information_content": 100.0}
{"id": "MONDO:0013281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COG4-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013281", "DOID:0070262", "OMIM:613489", "orphanet:263501", "UMLS:C4303552", "SNOMEDCT:718751000", "medgen:929221"], "information_content": 100.0}
{"id": "NCBIGene:148870", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC27", "equivalent_identifiers": ["NCBIGene:148870", "ENSEMBL:ENSG00000162592", "HGNC:26546", "UMLS:C1824552", "UniProtKB:Q2M243", "PR:Q2M243", "ENSEMBL:ENSP00000294600", "ENSEMBL:ENSP00000294600.2"], "information_content": 100.0}
{"id": "MONDO:0002859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast rhabdomyosarcoma", "equivalent_identifiers": ["MONDO:0002859", "DOID:4060", "UMLS:C1332637", "NCIT:C5190", "medgen:231970"], "information_content": 100.0}
{"id": "MONDO:0003024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast angiosarcoma", "equivalent_identifiers": ["MONDO:0003024", "DOID:4511", "UMLS:C1332614", "MESH:C536368", "MEDDRA:10072813", "NCIT:C5184", "medgen:272382"], "information_content": 90.9}
{"id": "MONDO:0003371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast leiomyosarcoma", "equivalent_identifiers": ["MONDO:0003371", "DOID:5285", "UMLS:C1332631", "NCIT:C5186", "medgen:234050"], "information_content": 100.0}
{"id": "MONDO:0003593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast liposarcoma", "equivalent_identifiers": ["MONDO:0003593", "DOID:5701", "UMLS:C1332632", "NCIT:C5187", "medgen:231968"], "information_content": 100.0}
{"id": "MONDO:0004360", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast extraskeletal osteosarcoma", "equivalent_identifiers": ["MONDO:0004360", "DOID:7787", "UMLS:C1335149", "NCIT:C5189", "medgen:235414"], "information_content": 100.0}
{"id": "MONDO:0003570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipid-rich carcinoma", "equivalent_identifiers": ["MONDO:0003570", "DOID:5658", "UMLS:C0334318", "NCIT:C4152", "SNOMEDCT:3839000", "medgen:137742"], "information_content": 95.4}
{"id": "NCBIGene:57572", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DOCK6", "equivalent_identifiers": ["NCBIGene:57572", "ENSEMBL:ENSG00000130158", "HGNC:19189", "OMIM:614194", "UMLS:C1426077", "UniProtKB:B7Z9U8", "UMLS:C4276906", "MESH:C000607938", "UniProtKB:K7ESB7", "ENSEMBL:ENSP00000468638", "ENSEMBL:ENSP00000468638.2", "UniProtKB:Q96HP0", "PR:Q96HP0", "ENSEMBL:ENSP00000294618", "ENSEMBL:ENSP00000294618.6"], "information_content": 100.0}
{"id": "MONDO:0012880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 5 with or without anosmia", "equivalent_identifiers": ["MONDO:0012880", "DOID:0090084", "OMIM:612370", "UMLS:C2675302", "UMLS:C3552553", "MESH:C567220", "medgen:765467"], "information_content": 100.0}
{"id": "UniProtKB:Q68G74-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM/homeobox protein Lhx8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68G74-1", "PR:Q68G74-1", "ENSEMBL:ENSP00000294638", "ENSEMBL:ENSP00000294638.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWG1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal intermediate chain 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWG1-1", "PR:Q8IWG1-1", "ENSEMBL:ENSP00000294664", "ENSEMBL:ENSP00000294664.6"], "information_content": 100.0}
{"id": "NCBIGene:388646", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GBP7", "equivalent_identifiers": ["NCBIGene:388646", "ENSEMBL:ENSG00000213512", "HGNC:29606", "OMIM:612468", "UMLS:C1825338", "UniProtKB:Q8N8V2", "PR:Q8N8V2", "ENSEMBL:ENSP00000294671", "ENSEMBL:ENSP00000294671.2"], "information_content": 92.8}
{"id": "NCBIGene:2672", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GFI1", "equivalent_identifiers": ["NCBIGene:2672", "ENSEMBL:ENSG00000162676", "HGNC:4237", "OMIM:600871", "UMLS:C1415044", "UniProtKB:Q99684", "PR:Q99684", "ENSEMBL:ENSP00000294702", "ENSEMBL:ENSP00000294702.5", "ENSEMBL:ENSP00000359357", "ENSEMBL:ENSP00000359357.1", "ENSEMBL:ENSP00000399719", "ENSEMBL:ENSP00000399719.1", "UMLS:C1506275", "UMLS:C5444811", "MESH:C498275"], "information_content": 95.4}
{"id": "MONDO:0008553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 17", "equivalent_identifiers": ["MONDO:0008553", "DOID:0111049", "OMIM:187900", "UMLS:C1861194", "MESH:C566060", "NCIT:C142084", "medgen:396078"], "information_content": 100.0}
{"id": "UniProtKB:P35573-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycogen debranching enzyme isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35573-1", "PR:P35573-1", "ENSEMBL:ENSP00000294724", "ENSEMBL:ENSP00000294724.4", "ENSEMBL:ENSP00000355106", "ENSEMBL:ENSP00000355106.3", "ENSEMBL:ENSP00000359182", "ENSEMBL:ENSP00000359182.3", "ENSEMBL:ENSP00000359184", "ENSEMBL:ENSP00000359184.3"], "information_content": 100.0}
{"id": "MONDO:0005314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "relapsing-remitting multiple sclerosis", "equivalent_identifiers": ["MONDO:0005314", "DOID:2378", "EFO:0003929", "UMLS:C0751967", "MESH:D020529", "MEDDRA:10063399", "NCIT:C165675", "SNOMEDCT:426373005", "medgen:155669", "icd11.foundation:799053936"], "information_content": 100.0}
{"id": "UniProtKB:Q6UVM3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium channel subfamily T member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UVM3-1", "PR:Q6UVM3-1", "ENSEMBL:ENSP00000294725", "ENSEMBL:ENSP00000294725.8", "ENSEMBL:ENSP00000517747", "ENSEMBL:ENSP00000517747.1"], "information_content": 100.0}
{"id": "UniProtKB:P19320-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vascular cell adhesion protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P19320-1", "PR:P19320-1", "ENSEMBL:ENSP00000294728", "ENSEMBL:ENSP00000294728.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2X9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 281 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2X9-1", "PR:Q9Y2X9-1", "ENSEMBL:ENSP00000294740", "ENSEMBL:ENSP00000294740.2", "ENSEMBL:ENSP00000356322", "ENSEMBL:ENSP00000356322.1"], "information_content": 100.0}
{"id": "UniProtKB:O15511-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin-related protein 2/3 complex subunit 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15511-2", "PR:O15511-2", "ENSEMBL:ENSP00000294742", "ENSEMBL:ENSP00000294742.6"], "information_content": 100.0}
{"id": "UniProtKB:Q96IT1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 496 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96IT1-1", "PR:Q96IT1-1", "ENSEMBL:ENSP00000294753", "ENSEMBL:ENSP00000294753.4", "ENSEMBL:ENSP00000507236", "ENSEMBL:ENSP00000507236.1", "ENSEMBL:ENSP00000517489", "ENSEMBL:ENSP00000517489.1", "ENSEMBL:ENSP00000517491", "ENSEMBL:ENSP00000517491.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92542-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nicastrin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92542-1", "PR:Q92542-1", "ENSEMBL:ENSP00000294785", "ENSEMBL:ENSP00000294785.5"], "information_content": 100.0}
{"id": "NCBIGene:440699", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC52", "equivalent_identifiers": ["NCBIGene:440699", "ENSEMBL:ENSG00000162763", "HGNC:32156", "OMIM:615218", "UMLS:C1825899", "UniProtKB:Q8N7C0", "PR:Q8N7C0", "ENSEMBL:ENSP00000294818", "ENSEMBL:ENSP00000294818.2", "UMLS:C3493521", "MESH:C573834"], "information_content": 95.4}
{"id": "MONDO:0850151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymph node carcinoma", "equivalent_identifiers": ["MONDO:0850151", "DOID:0080618"], "information_content": 100.0}
{"id": "NCBIGene:149647", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GARIN4", "equivalent_identifiers": ["NCBIGene:149647", "ENSEMBL:ENSG00000162771", "HGNC:26541", "OMIM:619852", "UMLS:C1825134", "UniProtKB:B2RCB4", "UniProtKB:B3KQ44", "UniProtKB:B4DXH7", "UniProtKB:Q8IYT1", "PR:Q8IYT1", "ENSEMBL:ENSP00000294829", "ENSEMBL:ENSP00000294829.3"], "information_content": 100.0}
{"id": "MONDO:0022742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "occupational asthma", "equivalent_identifiers": ["MONDO:0022742", "DOID:0080820", "UMLS:C0264423", "MESH:D059366", "MEDDRA:10070836", "SNOMEDCT:57607007", "medgen:452342"], "information_content": 100.0}
{"id": "NCBIGene:79762", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1orf115", "equivalent_identifiers": ["NCBIGene:79762", "ENSEMBL:ENSG00000162817", "HGNC:25873", "UMLS:C1823735", "UniProtKB:Q9H7X2", "PR:Q9H7X2", "ENSEMBL:ENSP00000294889", "ENSEMBL:ENSP00000294889.5"], "information_content": 100.0}
{"id": "UniProtKB:P29558-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding motif, single-stranded-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P29558-1", "PR:P29558-1", "ENSEMBL:ENSP00000294904", "ENSEMBL:ENSP00000294904.6"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1 regulatory subunit 21 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMI0-1", "PR:Q6ZMI0-1", "ENSEMBL:ENSP00000294952", "ENSEMBL:ENSP00000294952.8"], "information_content": 100.0}
{"id": "MONDO:0012414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 10", "equivalent_identifiers": ["MONDO:0012414", "DOID:0110725", "OMIM:610127", "orphanet:228337", "UMLS:C1864669", "UMLS:C4303804", "MESH:C566438", "SNOMEDCT:720831008", "medgen:350481"], "information_content": 100.0}
{"id": "UniProtKB:P22888-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lutropin-choriogonadotropic hormone receptor isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P22888-1", "PR:P22888-1", "ENSEMBL:ENSP00000294954", "ENSEMBL:ENSP00000294954.6"], "information_content": 100.0}
{"id": "NCBIGene:91461", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PKDCC", "equivalent_identifiers": ["NCBIGene:91461", "ENSEMBL:ENSG00000162878", "HGNC:25123", "OMIM:614150", "UMLS:C2828534", "UniProtKB:Q504Y2", "PR:Q504Y2", "ENSEMBL:ENSP00000294964", "ENSEMBL:ENSP00000294964.5", "UMLS:C4042723", "MESH:C000594807"], "information_content": 100.0}
{"id": "MONDO:0003038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysgraphia", "equivalent_identifiers": ["MONDO:0003038", "DOID:4540", "UMLS:C0234144", "MEDDRA:10058319", "NCIT:C182452", "SNOMEDCT:88278002", "medgen:115942", "HP:0010526"], "information_content": 100.0}
{"id": "UniProtKB:P46952-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3-hydroxyanthranilate 3,4-dioxygenase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P46952-1", "PR:P46952-1", "ENSEMBL:ENSP00000294973", "ENSEMBL:ENSP00000294973.6"], "information_content": 100.0}
{"id": "UniProtKB:P17655-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calpain-2 catalytic subunit isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P17655-1", "PR:P17655-1", "ENSEMBL:ENSP00000295006", "ENSEMBL:ENSP00000295006.5"], "information_content": 100.0}
{"id": "UniProtKB:Q04864-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proto-oncogene c-Rel isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q04864-1", "PR:Q04864-1", "ENSEMBL:ENSP00000295025", "ENSEMBL:ENSP00000295025.7"], "information_content": 100.0}
{"id": "NCBIGene:5194", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PEX13", "equivalent_identifiers": ["NCBIGene:5194", "ENSEMBL:ENSG00000162928", "HGNC:8855", "OMIM:601789", "UMLS:C1418474", "UniProtKB:Q92968", "PR:Q92968", "ENSEMBL:ENSP00000295030", "ENSEMBL:ENSP00000295030.4", "UMLS:C1447446", "MESH:C101884"], "information_content": 95.4}
{"id": "UniProtKB:Q9H040-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-dependent metalloprotease SPRTN isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H040-1", "PR:Q9H040-1", "ENSEMBL:ENSP00000295050", "ENSEMBL:ENSP00000295050.7"], "information_content": 100.0}
{"id": "MONDO:0013898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "karyomegalic interstitial nephritis", "equivalent_identifiers": ["MONDO:0013898", "DOID:0060911", "OMIM:614817", "orphanet:401996", "UMLS:C3553774", "NCIT:C173626", "SNOMEDCT:782738008", "medgen:766688", "ICD10:N11.8"], "information_content": 100.0}
{"id": "UniProtKB:Q6MZZ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calpain-13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6MZZ7-1", "PR:Q6MZZ7-1", "ENSEMBL:ENSP00000295055", "ENSEMBL:ENSP00000295055.8"], "information_content": 100.0}
{"id": "NCBIGene:347730", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRTM1", "equivalent_identifiers": ["NCBIGene:347730", "ENSEMBL:ENSG00000162951", "HGNC:19408", "OMIM:610867", "UMLS:C1537617", "UniProtKB:Q86UE6", "PR:Q86UE6", "ENSEMBL:ENSP00000295057", "ENSEMBL:ENSP00000295057.3", "ENSEMBL:ENSP00000386646", "ENSEMBL:ENSP00000386646.1", "ENSEMBL:ENSP00000393562", "ENSEMBL:ENSP00000393562.1", "ENSEMBL:ENSP00000414523", "ENSEMBL:ENSP00000414523.1", "UMLS:C2351812", "MESH:C526971"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y316-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein MEMO1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y316-1", "PR:Q9Y316-1", "ENSEMBL:ENSP00000295065", "ENSEMBL:ENSP00000295065.4", "ENSEMBL:ENSP00000385557", "ENSEMBL:ENSP00000385557.1"], "information_content": 100.0}
{"id": "NCBIGene:79568", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAIP1", "equivalent_identifiers": ["NCBIGene:79568", "ENSEMBL:ENSG00000162972", "HGNC:26198", "OMIM:617267", "UMLS:C1824112", "UniProtKB:Q8WWC4", "PR:Q8WWC4", "ENSEMBL:ENSP00000295079", "ENSEMBL:ENSP00000295079.2", "ENSEMBL:ENSP00000376111", "ENSEMBL:ENSP00000376111.1"], "information_content": 90.9}
{"id": "MONDO:0017845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia", "equivalent_identifiers": ["MONDO:0017845", "DOID:0050952", "OMIM.PS:108600", "orphanet:316226", "UMLS:C1849156", "MESH:C564815", "MEDDRA:10073037", "medgen:376528", "HP:0002497"], "information_content": 81.7}
{"id": "NCBIGene:3754", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNF1", "equivalent_identifiers": ["NCBIGene:3754", "ENSEMBL:ENSG00000162975", "HGNC:6246", "OMIM:603787", "UMLS:C1416568", "UniProtKB:Q9H3M0", "PR:Q9H3M0", "ENSEMBL:ENSP00000295082", "ENSEMBL:ENSP00000295082.1", "UMLS:C1431134", "MESH:C109966"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y689-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor-like protein 5A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y689-1", "PR:Q9Y689-1", "ENSEMBL:ENSP00000295087", "ENSEMBL:ENSP00000295087.8"], "information_content": 100.0}
{"id": "MONDO:0012635", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COG8-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012635", "DOID:0070260", "OMIM:611182", "orphanet:95428", "UMLS:C1970021", "MESH:C566987", "SNOMEDCT:717774004", "medgen:409971"], "information_content": 100.0}
{"id": "NCBIGene:55843", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGAP15", "equivalent_identifiers": ["NCBIGene:55843", "ENSEMBL:ENSG00000075884", "HGNC:21030", "OMIM:610578", "UMLS:C1427256", "UniProtKB:Q53QZ3", "PR:Q53QZ3", "ENSEMBL:ENSP00000295095", "ENSEMBL:ENSP00000295095.6", "UMLS:C1175873", "MESH:C473316"], "information_content": 95.4}
{"id": "UniProtKB:P48549-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G protein-activated inward rectifier potassium channel 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48549-1", "PR:P48549-1", "ENSEMBL:ENSP00000295101", "ENSEMBL:ENSP00000295101.2"], "information_content": 100.0}
{"id": "NCBIGene:4760", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEUROD1", "equivalent_identifiers": ["NCBIGene:4760", "ENSEMBL:ENSG00000162992", "HGNC:7762", "OMIM:601724", "UMLS:C1417683", "UniProtKB:A0A0S2Z493", "UniProtKB:Q13562", "PR:Q13562", "ENSEMBL:ENSP00000295108", "ENSEMBL:ENSP00000295108.3", "ENSEMBL:ENSP00000506907", "ENSEMBL:ENSP00000506907.1", "ENSEMBL:ENSP00000507492", "ENSEMBL:ENSP00000507492.1", "UMLS:C1571635", "MESH:C093970"], "information_content": 100.0}
{"id": "NCBIGene:2487", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FRZB", "equivalent_identifiers": ["NCBIGene:2487", "ENSEMBL:ENSG00000162998", "HGNC:3959", "OMIM:605083", "UMLS:C1414819", "UniProtKB:D9ZGF6", "UMLS:C1571490", "UniProtKB:Q92765", "PR:Q92765", "ENSEMBL:ENSP00000295113", "ENSEMBL:ENSP00000295113.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFH5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoporin NUP35 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFH5-1", "PR:Q8NFH5-1", "ENSEMBL:ENSP00000295119", "ENSEMBL:ENSP00000295119.4"], "information_content": 100.0}
{"id": "MONDO:0032687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature", "equivalent_identifiers": ["MONDO:0032687", "DOID:0081265", "OMIM:618342", "UMLS:C5193039", "medgen:1675423"], "information_content": 100.0}
{"id": "UniProtKB:Q96MX6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal assembly factor 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MX6-1", "PR:Q96MX6-1", "ENSEMBL:ENSP00000295121", "ENSEMBL:ENSP00000295121.6"], "information_content": 100.0}
{"id": "UniProtKB:Q96M89-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 138 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96M89-1", "PR:Q96M89-1", "ENSEMBL:ENSP00000295124", "ENSEMBL:ENSP00000295124.4"], "information_content": 100.0}
{"id": "MONDO:0012245", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 3", "equivalent_identifiers": ["MONDO:0012245", "DOID:0080440", "OMIM:609304", "UMLS:C5574665", "MESH:C562695", "medgen:1801135"], "information_content": 100.0}
{"id": "NCBIGene:151112", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZSWIM2", "equivalent_identifiers": ["NCBIGene:151112", "ENSEMBL:ENSG00000163012", "HGNC:30990", "UMLS:C1429037", "UniProtKB:Q8NEG5", "PR:Q8NEG5", "ENSEMBL:ENSP00000295131", "ENSEMBL:ENSP00000295131.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6R7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat and coiled-coil-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6R7-1", "PR:Q9H6R7-1", "ENSEMBL:ENSP00000295148", "ENSEMBL:ENSP00000295148.4"], "information_content": 100.0}
{"id": "NCBIGene:653140", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM228A", "equivalent_identifiers": ["NCBIGene:653140", "ENSEMBL:ENSG00000186453", "HGNC:34418", "UMLS:C2681209", "UniProtKB:Q86W67", "PR:Q86W67", "ENSEMBL:ENSP00000295150", "ENSEMBL:ENSP00000295150.3"], "information_content": 100.0}
{"id": "UniProtKB:Q7RTX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "monocarboxylate transporter 14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTX9-1", "PR:Q7RTX9-1", "ENSEMBL:ENSP00000295190", "ENSEMBL:ENSP00000295190.4"], "information_content": 100.0}
{"id": "NCBIGene:150483", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEKT4", "equivalent_identifiers": ["NCBIGene:150483", "ENSEMBL:ENSG00000163060", "HGNC:31012", "UMLS:C1823262", "UniProtKB:A0A384MEB7", "UniProtKB:Q8WW24", "PR:Q8WW24", "ENSEMBL:ENSP00000295201", "ENSEMBL:ENSP00000295201.4"], "information_content": 95.4}
{"id": "NCBIGene:2019", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EN1", "equivalent_identifiers": ["NCBIGene:2019", "ENSEMBL:ENSG00000163064", "HGNC:3342", "OMIM:131290", "UMLS:C1414395", "UniProtKB:Q05925", "PR:Q05925", "ENSEMBL:ENSP00000295206", "ENSEMBL:ENSP00000295206.5", "UMLS:C1690137", "MESH:C513076"], "information_content": 100.0}
{"id": "UniProtKB:Q8TC71-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondria-eating protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TC71-1", "PR:Q8TC71-1", "ENSEMBL:ENSP00000295213", "ENSEMBL:ENSP00000295213.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2W7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calsenilin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2W7-1", "PR:Q9Y2W7-1", "ENSEMBL:ENSP00000295225", "ENSEMBL:ENSP00000295225.5"], "information_content": 100.0}
{"id": "MONDO:0010564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "red-green color blindness", "equivalent_identifiers": ["MONDO:0010564", "DOID:13909", "OMIM:303800", "EFO:0005581", "UMLS:C0155016", "UMLS:C1970168", "MEDDRA:10012551", "MEDDRA:10065936", "SNOMEDCT:246674000", "SNOMEDCT:77479002", "medgen:102324", "ICD9:368.52", "HP:0000642"], "information_content": 89.4}
{"id": "NCBIGene:3625", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INHBB", "equivalent_identifiers": ["NCBIGene:3625", "ENSEMBL:ENSG00000163083", "HGNC:6067", "OMIM:147390", "UMLS:C1334132", "UniProtKB:P09529", "PR:P09529", "ENSEMBL:ENSP00000295228", "ENSEMBL:ENSP00000295228.3", "UMLS:C1447906", "MESH:C422402"], "information_content": 89.4}
{"id": "UniProtKB:Q8N3I7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BBSome complex member BBS5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3I7-1", "PR:Q8N3I7-1", "ENSEMBL:ENSP00000295240", "ENSEMBL:ENSP00000295240.3"], "information_content": 100.0}
{"id": "MONDO:0011188", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 3", "equivalent_identifiers": ["MONDO:0011188", "DOID:0110072", "OMIM:602086", "UMLS:C1865882", "MESH:C566584", "medgen:356108"], "information_content": 100.0}
{"id": "NCBIGene:27306", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HPGDS", "equivalent_identifiers": ["NCBIGene:27306", "ENSEMBL:ENSG00000163106", "HGNC:17890", "OMIM:602598", "UMLS:C1865138", "UniProtKB:A0A384P5J0", "UMLS:C2973990", "MESH:C000628111", "UniProtKB:O60760", "PR:O60760", "ENSEMBL:ENSP00000295256", "ENSEMBL:ENSP00000295256.5"], "information_content": 90.9}
{"id": "NCBIGene:5161", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDHA2", "equivalent_identifiers": ["NCBIGene:5161", "ENSEMBL:ENSG00000163114", "HGNC:8807", "OMIM:179061", "UMLS:C1418438", "UniProtKB:P29803", "PR:P29803", "ENSEMBL:ENSP00000295266", "ENSEMBL:ENSP00000295266.4", "UMLS:C2935209", "MESH:C550671"], "information_content": 92.8}
{"id": "NCBIGene:285555", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STPG2", "equivalent_identifiers": ["NCBIGene:285555", "ENSEMBL:ENSG00000163116", "HGNC:28712", "UMLS:C2240264", "UniProtKB:Q8N412", "PR:Q8N412", "ENSEMBL:ENSP00000295268", "ENSEMBL:ENSP00000295268.3"], "information_content": 100.0}
{"id": "NCBIGene:389015", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC9A4", "equivalent_identifiers": ["NCBIGene:389015", "ENSEMBL:ENSG00000180251", "HGNC:11077", "OMIM:600531", "UMLS:C1420238", "UniProtKB:Q6AI14", "PR:Q6AI14", "ENSEMBL:ENSP00000295269", "ENSEMBL:ENSP00000295269.4", "UMLS:C3490556", "MESH:C570475"], "information_content": 92.8}
{"id": "UniProtKB:Q9BXJ2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complement C1q tumor necrosis factor-related protein 7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXJ2-2", "PR:Q9BXJ2-2", "ENSEMBL:ENSP00000295297", "ENSEMBL:ENSP00000295297.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZQ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tropomodulin-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZQ9-1", "PR:Q9NZQ9-1", "ENSEMBL:ENSP00000295314", "ENSEMBL:ENSP00000295314.4"], "information_content": 100.0}
{"id": "NCBIGene:27302", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BMP10", "equivalent_identifiers": ["NCBIGene:27302", "ENSEMBL:ENSG00000163217", "HGNC:20869", "OMIM:608748", "UMLS:C1332422", "UniProtKB:O95393", "PR:O95393", "ENSEMBL:ENSP00000295379", "ENSEMBL:ENSP00000295379.1", "UMLS:C1332588", "UMLS:C2716524", "MESH:C541386"], "information_content": 92.8}
{"id": "NCBIGene:10461", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MERTK", "equivalent_identifiers": ["NCBIGene:10461", "ENSEMBL:ENSG00000153208", "HGNC:7027", "OMIM:604705", "UMLS:C1364081", "UniProtKB:Q12866", "PR:Q12866", "ENSEMBL:ENSP00000295408", "ENSEMBL:ENSP00000295408.4", "UMLS:C1259418", "MESH:C097072"], "information_content": 86.3}
{"id": "MONDO:0005910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phagocyte bactericidal dysfunction", "equivalent_identifiers": ["MONDO:0005910", "DOID:3262", "EFO:0007433", "UMLS:C0031306", "MESH:D010585", "medgen:14713"], "information_content": 85.5}
{"id": "UniProtKB:Q8TDQ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glucosamine-6-phosphate deaminase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDQ7-1", "PR:Q8TDQ7-1", "ENSEMBL:ENSP00000295448", "ENSEMBL:ENSP00000295448.3"], "information_content": 100.0}
{"id": "NCBIGene:2565", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABRG1", "equivalent_identifiers": ["NCBIGene:2565", "ENSEMBL:ENSG00000163285", "HGNC:4086", "OMIM:137166", "UMLS:C1414919", "UniProtKB:Q8N1C3", "PR:Q8N1C3", "ENSEMBL:ENSP00000295452", "ENSEMBL:ENSP00000295452.4", "UMLS:C2353676"], "information_content": 100.0}
{"id": "NCBIGene:251", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALPG", "equivalent_identifiers": ["NCBIGene:251", "ENSEMBL:ENSG00000163286", "HGNC:441", "OMIM:171810", "UMLS:C1412366", "UniProtKB:P10696", "PR:P10696", "ENSEMBL:ENSP00000295453", "ENSEMBL:ENSP00000295453.3", "UMLS:C2932890", "MESH:C548269"], "information_content": 95.4}
{"id": "UniProtKB:P18505-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-aminobutyric acid receptor subunit beta-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P18505-1", "PR:P18505-1", "ENSEMBL:ENSP00000295454", "ENSEMBL:ENSP00000295454.3"], "information_content": 100.0}
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{"id": "UniProtKB:Q8TDG4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "helicase POLQ-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDG4-1", "PR:Q8TDG4-1", "ENSEMBL:ENSP00000295488", "ENSEMBL:ENSP00000295488.3"], "information_content": 100.0}
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{"id": "NCBIGene:9076", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN1", "equivalent_identifiers": ["NCBIGene:9076", "ENSEMBL:ENSG00000163347", "HGNC:2032", "OMIM:603718", "UMLS:C1413460", "UniProtKB:A5JSJ9", "UniProtKB:O95832", "PR:O95832", "ENSEMBL:ENSP00000295522", "ENSEMBL:ENSP00000295522.3", "UMLS:C1570899", "MESH:C568108"], "information_content": 95.4}
{"id": "UniProtKB:Q5T197-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase DCST1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T197-1", "PR:Q5T197-1", "ENSEMBL:ENSP00000295542", "ENSEMBL:ENSP00000295542.2"], "information_content": 100.0}
{"id": "UniProtKB:P12111-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-3(VI) chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P12111-1", "PR:P12111-1", "ENSEMBL:ENSP00000295550", "ENSEMBL:ENSP00000295550.4"], "information_content": 100.0}
{"id": "MONDO:0007562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia, Beighton type", "equivalent_identifiers": ["MONDO:0007562", "DOID:0111348", "OMIM:132450", "UMLS:C1851536", "UMLS:C4304499", "MESH:C565046", "SNOMEDCT:719689005", "medgen:377049", "icd11.foundation:1115252418"], "information_content": 100.0}
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{"id": "NCBIGene:56983", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POGLUT1", "equivalent_identifiers": ["NCBIGene:56983", "ENSEMBL:ENSG00000163389", "HGNC:22954", "OMIM:615618", "UMLS:C1824120", "UniProtKB:B4DJ97", "UniProtKB:Q8NBL1", "PR:Q8NBL1", "ENSEMBL:ENSP00000295588", "ENSEMBL:ENSP00000295588.4", "UMLS:C1722113", "MESH:C510651"], "information_content": 92.8}
{"id": "MONDO:0001157", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dependent personality disorder", "equivalent_identifiers": ["MONDO:0001157", "DOID:10931", "UMLS:C0011548", "MESH:D003859", "MEDDRA:10012354", "MEDDRA:10012355", "MEDDRA:10034102", "NCIT:C92637", "SNOMEDCT:84466009", "medgen:4225", "icd11.foundation:1283123068", "ICD10:F60.7", "ICD9:301.6"], "information_content": 100.0}
{"id": "DOID:0070023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant dyskeratosis congenita 6", "equivalent_identifiers": ["DOID:0070023"]}
{"id": "NCBIGene:886", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCKAR", "equivalent_identifiers": ["NCBIGene:886", "ENSEMBL:ENSG00000163394", "HGNC:1570", "OMIM:118444", "UMLS:C1413168", "UniProtKB:P32238", "PR:P32238", "ENSEMBL:ENSP00000295589", "ENSEMBL:ENSP00000295589.3", "UMLS:C5849177"], "information_content": 100.0}
{"id": "UniProtKB:Q9HC23-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prokineticin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HC23-1", "PR:Q9HC23-1", "ENSEMBL:ENSP00000295619", "ENSEMBL:ENSP00000295619.3"], "information_content": 100.0}
{"id": "NCBIGene:152405", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX55", "equivalent_identifiers": ["NCBIGene:152405", "ENSEMBL:ENSG00000163424", "HGNC:26553", "UMLS:C1824126", "UniProtKB:Q96M34", "PR:Q96M34", "ENSEMBL:ENSP00000295622", "ENSEMBL:ENSP00000295622.1"], "information_content": 100.0}
{"id": "NCBIGene:116064", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC58", "equivalent_identifiers": ["NCBIGene:116064", "ENSEMBL:ENSG00000163428", "HGNC:26968", "UMLS:C1825903", "UniProtKB:Q96CX6", "PR:Q96CX6", "ENSEMBL:ENSP00000295628", "ENSEMBL:ENSP00000295628.3"], "information_content": 90.9}
{"id": "MONDO:0012060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 35", "equivalent_identifiers": ["MONDO:0012060", "DOID:0110493", "OMIM:608565", "UMLS:C1837857", "MESH:C563908", "medgen:324897"], "information_content": 100.0}
{"id": "UniProtKB:Q12841-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "follistatin-related protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12841-1", "PR:Q12841-1", "ENSEMBL:ENSP00000295633", "ENSEMBL:ENSP00000295633.3", "ENSEMBL:ENSP00000418505", "ENSEMBL:ENSP00000418505.2", "ENSEMBL:ENSP00000518554", "ENSEMBL:ENSP00000518554.1"], "information_content": 100.0}
{"id": "NCBIGene:6051", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNPEP", "equivalent_identifiers": ["NCBIGene:6051", "ENSEMBL:ENSG00000176393", "HGNC:10078", "OMIM:602675", "UMLS:C1419434", "UniProtKB:Q9H4A4", "PR:Q9H4A4", "ENSEMBL:ENSP00000295640", "ENSEMBL:ENSP00000295640.4"], "information_content": 95.4}
{"id": "MONDO:0020533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Haverhill fever", "equivalent_identifiers": ["MONDO:0020533", "DOID:13238", "orphanet:99905", "UMLS:C0152063", "MEDDRA:10014972", "MEDDRA:10019169", "MEDDRA:10037907", "MEDDRA:10042175", "SNOMEDCT:52138004", "medgen:508864", "icd11.foundation:614000128", "ICD10:A25.1", "ICD9:026.1"], "information_content": 100.0}
{"id": "NCBIGene:132954", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDCL2", "equivalent_identifiers": ["NCBIGene:132954", "ENSEMBL:ENSG00000163440", "HGNC:29524", "OMIM:611676", "UMLS:C1428867", "UniProtKB:Q8N4E4", "PR:Q8N4E4", "ENSEMBL:ENSP00000295645", "ENSEMBL:ENSP00000295645.4", "UMLS:C1527973", "MESH:C498321"], "information_content": 100.0}
{"id": "UniProtKB:Q16270-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "insulin-like growth factor-binding protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16270-1", "PR:Q16270-1", "ENSEMBL:ENSP00000295666", "ENSEMBL:ENSP00000295666.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6L1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit KCP2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6L1-1", "PR:Q8N6L1-1", "ENSEMBL:ENSP00000295682", "ENSEMBL:ENSP00000295682.5"], "information_content": 100.0}
{"id": "NCBIGene:3577", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCR1", "equivalent_identifiers": ["NCBIGene:3577", "ENSEMBL:ENSG00000163464", "HGNC:6026", "OMIM:146929", "UMLS:C1334125", "UniProtKB:P25024", "PR:P25024", "ENSEMBL:ENSP00000295683", "ENSEMBL:ENSP00000295683.2", "UMLS:C4082279", "UMLS:C5882344", "MESH:C000730067"], "information_content": 100.0}
{"id": "NCBIGene:10109", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARPC2", "equivalent_identifiers": ["NCBIGene:10109", "ENSEMBL:ENSG00000163466", "HGNC:705", "OMIM:604224", "UMLS:C1412547", "UniProtKB:O15144", "PR:O15144", "ENSEMBL:ENSP00000295685", "ENSEMBL:ENSP00000295685.10", "ENSEMBL:ENSP00000327137", "ENSEMBL:ENSP00000327137.5", "UMLS:C4042496", "MESH:C000595669", "UniProtKB:Q53R19"], "information_content": 88.2}
{"id": "UniProtKB:P49368-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-complex protein 1 subunit gamma isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49368-1", "PR:P49368-1", "ENSEMBL:ENSP00000295688", "ENSEMBL:ENSP00000295688.3"], "information_content": 100.0}
{"id": "NCBIGene:84283", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM79", "equivalent_identifiers": ["NCBIGene:84283", "ENSEMBL:ENSG00000163472", "HGNC:28196", "OMIM:615531", "UMLS:C1823340", "UniProtKB:Q9BSE2", "PR:Q9BSE2", "ENSEMBL:ENSP00000295694", "ENSEMBL:ENSP00000295694.5", "ENSEMBL:ENSP00000384748", "ENSEMBL:ENSP00000384748.2"], "information_content": 100.0}
{"id": "NCBIGene:6746", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSR2", "equivalent_identifiers": ["NCBIGene:6746", "ENSEMBL:ENSG00000163479", "HGNC:11324", "OMIM:600867", "UMLS:C1420429", "UniProtKB:P43308", "PR:P43308", "ENSEMBL:ENSP00000295702", "ENSEMBL:ENSP00000295702.4", "ENSEMBL:ENSP00000434306", "ENSEMBL:ENSP00000434306.1", "UMLS:C0286899"], "information_content": 88.2}
{"id": "MONDO:0020527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectopic Cushing syndrome", "equivalent_identifiers": ["MONDO:0020527", "DOID:0060890", "orphanet:99889", "icd11.foundation:1646144829", "ICD10:E24.3"], "information_content": 100.0}
{"id": "NCBIGene:64320", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF25", "equivalent_identifiers": ["NCBIGene:64320", "ENSEMBL:ENSG00000163481", "HGNC:14662", "OMIM:616014", "UMLS:C1422821", "UniProtKB:Q96BH1", "PR:Q96BH1", "ENSEMBL:ENSP00000295704", "ENSEMBL:ENSP00000295704.2", "UMLS:C1311060", "MESH:C476616"], "information_content": 100.0}
{"id": "MONDO:0013926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 14 with or without anosmia", "equivalent_identifiers": ["MONDO:0013926", "DOID:0090087", "OMIM:614858", "UMLS:C3540450", "medgen:761703"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase 36 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRP7-1", "PR:Q9NRP7-1", "ENSEMBL:ENSP00000295709", "ENSEMBL:ENSP00000295709.3", "ENSEMBL:ENSP00000394095", "ENSEMBL:ENSP00000394095.1"], "information_content": 100.0}
{"id": "MONDO:0007215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type A1", "equivalent_identifiers": ["MONDO:0007215", "DOID:0110964", "OMIM:112500", "orphanet:93388", "UMLS:C1862151", "MESH:C537088", "SNOMEDCT:715720006", "medgen:354673", "icd11.foundation:568452529", "HP:0009371"], "information_content": 100.0}
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{"id": "NCBIGene:1412", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRYBA2", "equivalent_identifiers": ["NCBIGene:1412", "ENSEMBL:ENSG00000163499", "HGNC:2395", "OMIM:600836", "UMLS:C1413727", "UniProtKB:P53672", "PR:P53672", "ENSEMBL:ENSP00000295728", "ENSEMBL:ENSP00000295728.2", "ENSEMBL:ENSP00000375946", "ENSEMBL:ENSP00000375946.2"], "information_content": 100.0}
{"id": "NCBIGene:3549", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IHH", "equivalent_identifiers": ["NCBIGene:3549", "ENSEMBL:ENSG00000163501", "HGNC:5956", "OMIM:600726", "UMLS:C1416377", "UniProtKB:Q14623", "PR:Q14623", "ENSEMBL:ENSP00000295731", "ENSEMBL:ENSP00000295731.5", "UMLS:C1701853", "MESH:C509246"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCG1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein CIP2A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCG1-1", "PR:Q8TCG1-1", "ENSEMBL:ENSP00000295746", "ENSEMBL:ENSP00000295746.7"], "information_content": 100.0}
{"id": "NCBIGene:84666", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RETNLB", "equivalent_identifiers": ["NCBIGene:84666", "ENSEMBL:ENSG00000163515", "HGNC:20388", "OMIM:605645", "UMLS:C1426905", "UniProtKB:Q9BQ08", "PR:Q9BQ08", "ENSEMBL:ENSP00000295755", "ENSEMBL:ENSP00000295755.6", "UMLS:C0968943", "MESH:C486574"], "information_content": 100.0}
{"id": "NCBIGene:50852", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRAT1", "equivalent_identifiers": ["NCBIGene:50852", "ENSEMBL:ENSG00000163519", "HGNC:30698", "OMIM:604962", "UMLS:C1710327", "UniProtKB:C9JF66", "ENSEMBL:ENSP00000410097", "ENSEMBL:ENSP00000410097.1", "UMLS:C1447671", "MESH:C114030", "UniProtKB:Q6PIZ9", "PR:Q6PIZ9", "ENSEMBL:ENSP00000295756", "ENSEMBL:ENSP00000295756.6", "UMLS:C0756533"], "information_content": 92.8}
{"id": "UniProtKB:Q96DB2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone deacetylase 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DB2-1", "PR:Q96DB2-1", "ENSEMBL:ENSP00000295757", "ENSEMBL:ENSP00000295757.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWU2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-galactosidase-1-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWU2-1", "PR:Q6UWU2-1", "ENSEMBL:ENSP00000295759", "ENSEMBL:ENSP00000295759.7", "ENSEMBL:ENSP00000375939", "ENSEMBL:ENSP00000375939.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4Q1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial intermembrane space import and assembly protein 40 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4Q1-2", "PR:Q8N4Q1-2", "ENSEMBL:ENSP00000295767", "ENSEMBL:ENSP00000295767.5"], "information_content": 100.0}
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{"id": "NCBIGene:5274", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINI1", "equivalent_identifiers": ["NCBIGene:5274", "ENSEMBL:ENSG00000163536", "HGNC:8943", "OMIM:602445", "UMLS:C1418546", "UniProtKB:A0A0S2Z455", "UMLS:C1569004", "MESH:C000728001", "UniProtKB:Q99574", "PR:Q99574", "ENSEMBL:ENSP00000295777", "ENSEMBL:ENSP00000295777.5", "ENSEMBL:ENSP00000397373", "ENSEMBL:ENSP00000397373.2"], "information_content": 90.9}
{"id": "NCBIGene:5584", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRKCI", "equivalent_identifiers": ["NCBIGene:5584", "ENSEMBL:ENSG00000163558", "HGNC:9404", "OMIM:600539", "UMLS:C1418921", "UniProtKB:P41743", "PR:P41743", "ENSEMBL:ENSP00000295797", "ENSEMBL:ENSP00000295797.4", "UMLS:C1568202"], "information_content": 95.4}
{"id": "UniProtKB:Q6NUM9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "all-trans-retinol 13,14-reductase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NUM9-1", "PR:Q6NUM9-1", "ENSEMBL:ENSP00000295802", "ENSEMBL:ENSP00000295802.4", "ENSEMBL:ENSP00000517901", "ENSEMBL:ENSP00000517901.1"], "information_content": 100.0}
{"id": "NCBIGene:56648", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF5A2", "equivalent_identifiers": ["NCBIGene:56648", "ENSEMBL:ENSG00000163577", "HGNC:3301", "OMIM:605782", "UMLS:C1414361", "UniProtKB:Q9GZV4", "PR:Q9GZV4", "ENSEMBL:ENSP00000295822", "ENSEMBL:ENSP00000295822.2"], "information_content": 92.8}
{"id": "NCBIGene:2168", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FABP1", "equivalent_identifiers": ["NCBIGene:2168", "ENSEMBL:ENSG00000163586", "HGNC:3555", "OMIM:134650", "UMLS:C1333524", "UniProtKB:P07148", "PR:P07148", "ENSEMBL:ENSP00000295834", "ENSEMBL:ENSP00000295834.3", "UMLS:C1312700", "MESH:C493319", "UniProtKB:Q05CP7", "UniProtKB:Q6FGL7"], "information_content": 85.5}
{"id": "NCBIGene:10152", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABI2", "equivalent_identifiers": ["NCBIGene:10152", "ENSEMBL:ENSG00000138443", "HGNC:24011", "OMIM:606442", "UMLS:C1332005", "UniProtKB:A0A0C4DG21", "ENSEMBL:ENSP00000391433", "ENSEMBL:ENSP00000391433.1", "UniProtKB:A0A7D9NKC8", "ENSEMBL:ENSP00000295851", "ENSEMBL:ENSP00000295851.4", "UniProtKB:B7Z836", "UniProtKB:E9PEZ7", "ENSEMBL:ENSP00000408898", "ENSEMBL:ENSP00000408898.1", "UniProtKB:F8WAL6", "ENSEMBL:ENSP00000261018", "ENSEMBL:ENSP00000261018.9", "UniProtKB:Q9NYB9", "PR:Q9NYB9", "UMLS:C1447390", "MESH:C096831"]}
{"id": "NCBIGene:152185", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPICE1", "equivalent_identifiers": ["NCBIGene:152185", "ENSEMBL:ENSG00000163611", "HGNC:25083", "OMIM:613447", "UMLS:C3146551", "UniProtKB:Q8N0Z3", "PR:Q8N0Z3", "ENSEMBL:ENSP00000295872", "ENSEMBL:ENSP00000295872.4", "UMLS:C2975760", "MESH:C554360"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCU4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 191 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCU4-1", "PR:Q8NCU4-1", "ENSEMBL:ENSP00000295878", "ENSEMBL:ENSP00000295878.3"], "information_content": 100.0}
{"id": "MONDO:0003396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epulis", "equivalent_identifiers": ["MONDO:0003396", "DOID:5337", "UMLS:C0266919", "MEDDRA:10018288", "MEDDRA:10057974", "NCIT:C3948", "SNOMEDCT:45676007", "SNOMEDCT:71708001", "medgen:82751", "icd11.foundation:1849228776"], "information_content": 92.8}
{"id": "NCBIGene:4825", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKX6-1", "equivalent_identifiers": ["NCBIGene:4825", "ENSEMBL:ENSG00000163623", "HGNC:7839", "OMIM:602563", "UMLS:C1417738", "UniProtKB:P78426", "PR:P78426", "ENSEMBL:ENSP00000295886", "ENSEMBL:ENSP00000295886.3", "UMLS:C0537449", "MESH:C105201"], "information_content": 100.0}
{"id": "NCBIGene:1040", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDS1", "equivalent_identifiers": ["NCBIGene:1040", "ENSEMBL:ENSG00000163624", "HGNC:1800", "OMIM:603548", "UMLS:C1413297", "UniProtKB:Q92903", "PR:Q92903", "ENSEMBL:ENSP00000295887", "ENSEMBL:ENSP00000295887.5", "UMLS:C4548739", "MESH:C000622211"], "information_content": 95.4}
{"id": "MONDO:0001633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central retinal artery occlusion", "equivalent_identifiers": ["MONDO:0001633", "DOID:13098", "orphanet:648684", "UMLS:C0007688", "MEDDRA:10007971", "NCIT:C34456", "SNOMEDCT:38742007", "medgen:40177", "icd11.foundation:613330234", "ICD10:H34.1", "ICD9:362.31", "HP:0025342"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZQ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat and FYVE domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZQ1-1", "PR:Q8IZQ1-1", "ENSEMBL:ENSP00000295888", "ENSEMBL:ENSP00000295888.4"], "information_content": 100.0}
{"id": "NCBIGene:132200", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C3orf49", "equivalent_identifiers": ["NCBIGene:132200", "ENSEMBL:ENSG00000163632", "HGNC:25190", "UMLS:C1824145", "UniProtKB:A0A2R8Y7G4", "ENSEMBL:ENSP00000495997", "ENSEMBL:ENSP00000495997.1", "UniProtKB:Q96BT1", "PR:Q96BT1", "ENSEMBL:ENSP00000295896", "ENSEMBL:ENSP00000295896.8"], "information_content": 100.0}
{"id": "UniProtKB:P02768-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "albumin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P02768-1", "PR:P02768-1", "ENSEMBL:ENSP00000295897", "ENSEMBL:ENSP00000295897.4"], "information_content": 100.0}
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{"id": "UniProtKB:O15265-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ataxin-7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15265-1", "PR:O15265-1", "ENSEMBL:ENSP00000295900", "ENSEMBL:ENSP00000295900.6", "ENSEMBL:ENSP00000420234", "ENSEMBL:ENSP00000420234.1", "ENSEMBL:ENSP00000501377", "ENSEMBL:ENSP00000501377.1"], "information_content": 95.4}
{"id": "UniProtKB:Q7L0X2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate-rich protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L0X2-1", "PR:Q7L0X2-1", "ENSEMBL:ENSP00000295910", "ENSEMBL:ENSP00000295910.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9UK58-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-L1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UK58-1", "PR:Q9UK58-1", "ENSEMBL:ENSP00000295926", "ENSEMBL:ENSP00000295926.4"], "information_content": 100.0}
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{"id": "NCBIGene:201895", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM14", "equivalent_identifiers": ["NCBIGene:201895", "ENSEMBL:ENSG00000163683", "HGNC:27321", "UMLS:C1824177", "UniProtKB:Q96QK8", "PR:Q96QK8", "ENSEMBL:ENSP00000295958", "ENSEMBL:ENSP00000295958.4", "UMLS:C4041902", "MESH:C000598976"], "information_content": 100.0}
{"id": "NCBIGene:57406", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABHD6", "equivalent_identifiers": ["NCBIGene:57406", "ENSEMBL:ENSG00000163686", "HGNC:21398", "OMIM:616966", "UMLS:C1427543", "UniProtKB:Q9BV23", "PR:Q9BV23", "ENSEMBL:ENSP00000295962", "ENSEMBL:ENSP00000295962.4", "ENSEMBL:ENSP00000420315", "ENSEMBL:ENSP00000420315.1", "UMLS:C2716050", "MESH:C540878"], "information_content": 89.4}
{"id": "UniProtKB:A0AV96-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 47 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A0AV96-1", "PR:A0AV96-1", "ENSEMBL:ENSP00000295971", "ENSEMBL:ENSP00000295971.7", "ENSEMBL:ENSP00000371212", "ENSEMBL:ENSP00000371212.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NAC3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-17 receptor C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NAC3-1", "PR:Q8NAC3-1", "ENSEMBL:ENSP00000295981", "ENSEMBL:ENSP00000295981.3"], "information_content": 100.0}
{"id": "UniProtKB:P17600-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synapsin-1 isoform 1a (human)", "equivalent_identifiers": ["UniProtKB:P17600-1", "PR:P17600-1", "ENSEMBL:ENSP00000295987", "ENSEMBL:ENSP00000295987.7"], "information_content": 100.0}
{"id": "NCBIGene:26577", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCOLCE2", "equivalent_identifiers": ["NCBIGene:26577", "ENSEMBL:ENSG00000163710", "HGNC:8739", "OMIM:607064", "UMLS:C1418384", "UniProtKB:Q9UKZ9", "PR:Q9UKZ9", "ENSEMBL:ENSP00000295992", "ENSEMBL:ENSP00000295992.3", "UMLS:C1453812", "MESH:C491553"], "information_content": 90.9}
{"id": "UniProtKB:Q8NCE2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCE2-1", "PR:Q8NCE2-1", "ENSEMBL:ENSP00000296003", "ENSEMBL:ENSP00000296003.5"], "information_content": 100.0}
{"id": "NCBIGene:2921", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCL3", "equivalent_identifiers": ["NCBIGene:2921", "ENSEMBL:ENSG00000163734", "HGNC:4604", "OMIM:139111", "UMLS:C0812311", "UniProtKB:P19876", "PR:P19876", "ENSEMBL:ENSP00000296026", "ENSEMBL:ENSP00000296026.4", "UMLS:C0208740", "MESH:C499707"], "information_content": 85.5}
{"id": "NCBIGene:6374", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCL5", "equivalent_identifiers": ["NCBIGene:6374", "ENSEMBL:ENSG00000163735", "HGNC:10642", "OMIM:600324", "UMLS:C1332819", "UniProtKB:P42830", "PR:P42830", "ENSEMBL:ENSP00000296027", "ENSEMBL:ENSP00000296027.4", "UMLS:C1435946", "MESH:C486263", "UniProtKB:Q6I9S7"], "information_content": 82.1}
{"id": "NCBIGene:5473", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPBP", "equivalent_identifiers": ["NCBIGene:5473", "ENSEMBL:ENSG00000163736", "HGNC:9240", "OMIM:121010", "UMLS:C1335239", "UniProtKB:P02775", "PR:P02775", "ENSEMBL:ENSP00000296028", "ENSEMBL:ENSP00000296028.3", "ENSEMBL:ENSP00000520613", "ENSEMBL:ENSP00000520613.1", "UMLS:C0132309", "UMLS:C1447076", "UMLS:C1622669", "UMLS:C5441962", "MESH:C061615"], "information_content": 95.4}
{"id": "MONDO:0004634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vein disorder", "equivalent_identifiers": ["MONDO:0004634", "DOID:866", "UMLS:C0155774", "UMLS:C0235522", "MEDDRA:10033035", "MEDDRA:10047184", "MEDDRA:10047185", "MEDDRA:10047225", "NCIT:C35279", "SNOMEDCT:90507008", "medgen:115992", "ICD10:I82", "ICD9:453"], "information_content": 77.1}
{"id": "NCBIGene:5196", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PF4", "equivalent_identifiers": ["NCBIGene:5196", "ENSEMBL:ENSG00000163737", "HGNC:8861", "OMIM:173460", "UMLS:C1335206", "UniProtKB:P02776", "PR:P02776", "ENSEMBL:ENSP00000296029", "ENSEMBL:ENSP00000296029.3", "UMLS:C3887656", "UMLS:C4743381", "MESH:C000629325"], "information_content": 95.4}
{"id": "UniProtKB:Q8TF72-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Shroom3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF72-1", "PR:Q8TF72-1", "ENSEMBL:ENSP00000296043", "ENSEMBL:ENSP00000296043.6"], "information_content": 100.0}
{"id": "MONDO:0019666", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, PAPSS2 type", "equivalent_identifiers": ["MONDO:0019666", "DOID:0050812", "OMIM:612847", "orphanet:93282", "UMLS:C2748515", "UMLS:C2748516", "MESH:C567551", "MESH:C567552", "SNOMEDCT:719172003", "medgen:411234"], "information_content": 100.0}
{"id": "MONDO:0000608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Juvenile gout", "equivalent_identifiers": ["MONDO:0000608", "DOID:0060062", "OMIM.PS:162000", "UMLS:C0268113", "MESH:C537696", "SNOMEDCT:46785007", "medgen:75651"], "information_content": 87.2}
{"id": "NCBIGene:1359", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPA3", "equivalent_identifiers": ["NCBIGene:1359", "ENSEMBL:ENSG00000163751", "HGNC:2298", "OMIM:114851", "UMLS:C1413664", "UniProtKB:P15088", "PR:P15088", "ENSEMBL:ENSP00000296046", "ENSEMBL:ENSP00000296046.3", "UMLS:C1256782", "MESH:C468648"], "information_content": 92.8}
{"id": "UniProtKB:Q969F9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BLOC-2 complex member HPS3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969F9-1", "PR:Q969F9-1", "ENSEMBL:ENSP00000296051", "ENSEMBL:ENSP00000296051.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRH2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SNF-related serine/threonine-protein kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRH2-1", "PR:Q9NRH2-1", "ENSEMBL:ENSP00000296088", "ENSEMBL:ENSP00000296088.7", "ENSEMBL:ENSP00000401246", "ENSEMBL:ENSP00000401246.1", "ENSEMBL:ENSP00000411375", "ENSEMBL:ENSP00000411375.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYV2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 54 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYV2-2", "PR:Q9BYV2-2", "ENSEMBL:ENSP00000296098", "ENSEMBL:ENSP00000296098.4"], "information_content": 100.0}
{"id": "NCBIGene:7349", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UCN", "equivalent_identifiers": ["NCBIGene:7349", "ENSEMBL:ENSG00000163794", "HGNC:12516", "OMIM:600945", "UMLS:C1421312", "UniProtKB:P55089", "PR:P55089", "ENSEMBL:ENSP00000296099", "ENSEMBL:ENSP00000296099.2", "UMLS:C3529342", "MESH:C576814"], "information_content": 100.0}
{"id": "NCBIGene:7047", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGM4", "equivalent_identifiers": ["NCBIGene:7047", "ENSEMBL:ENSG00000163810", "HGNC:11780", "OMIM:600585", "UMLS:C1420716", "UniProtKB:A0A994J576", "ENSEMBL:ENSP00000516167", "ENSEMBL:ENSP00000516167.1", "UMLS:C0963454", "MESH:C418702", "UniProtKB:P49221", "PR:P49221", "ENSEMBL:ENSP00000296125", "ENSEMBL:ENSP00000296125.4", "ENSEMBL:ENSP00000487307", "ENSEMBL:ENSP00000487307.1"], "information_content": 95.4}
{"id": "MONDO:0009411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune polyendocrine syndrome type 1", "equivalent_identifiers": ["MONDO:0009411", "DOID:0050167", "OMIM:240300", "orphanet:3453", "UMLS:C0085859", "UMLS:C1855868", "UMLS:C1855869", "MEDDRA:10036072", "NCIT:C129727", "SNOMEDCT:11244009", "medgen:39125"], "information_content": 100.0}
{"id": "UniProtKB:Q9H5V8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CUB domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H5V8-1", "PR:Q9H5V8-1", "ENSEMBL:ENSP00000296129", "ENSEMBL:ENSP00000296129.1"], "information_content": 100.0}
{"id": "NCBIGene:7123", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLEC3B", "equivalent_identifiers": ["NCBIGene:7123", "ENSEMBL:ENSG00000163815", "HGNC:11891", "OMIM:187520", "UMLS:C1539092", "UniProtKB:E9PHK0", "ENSEMBL:ENSP00000396013", "ENSEMBL:ENSP00000396013.1", "UMLS:C1622769", "UniProtKB:P05452", "PR:P05452", "ENSEMBL:ENSP00000296130", "ENSEMBL:ENSP00000296130.4"], "information_content": 92.8}
{"id": "UniProtKB:Q9NQ48-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine zipper transcription factor-like protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ48-1", "PR:Q9NQ48-1", "ENSEMBL:ENSP00000296135", "ENSEMBL:ENSP00000296135.6"], "information_content": 100.0}
{"id": "MONDO:0020478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber plus disease", "equivalent_identifiers": ["MONDO:0020478", "DOID:0111754", "orphanet:99718", "UMLS:C4304725", "SNOMEDCT:719430008", "medgen:930394"], "information_content": 92.8}
{"id": "UniProtKB:Q9BQS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FYVE and coiled-coil domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQS8-1", "PR:Q9BQS8-1", "ENSEMBL:ENSP00000296137", "ENSEMBL:ENSP00000296137.2"], "information_content": 100.0}
{"id": "NCBIGene:1230", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCR1", "equivalent_identifiers": ["NCBIGene:1230", "ENSEMBL:ENSG00000163823", "HGNC:1602", "OMIM:601159", "UMLS:C1332699", "UniProtKB:P32246", "PR:P32246", "ENSEMBL:ENSP00000296140", "ENSEMBL:ENSP00000296140.3", "UMLS:C1872412", "MESH:C515300", "UniProtKB:Q5U003"], "information_content": 92.8}
{"id": "NCBIGene:83597", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTP3", "equivalent_identifiers": ["NCBIGene:83597", "ENSEMBL:ENSG00000163825", "HGNC:15572", "OMIM:607181", "UMLS:C1826953", "UniProtKB:Q9BQQ7", "PR:Q9BQQ7", "ENSEMBL:ENSP00000296142", "ENSEMBL:ENSP00000296142.3", "ENSEMBL:ENSP00000507138", "ENSEMBL:ENSP00000507138.1"], "information_content": 100.0}
{"id": "NCBIGene:6997", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRIPTO", "equivalent_identifiers": ["NCBIGene:6997", "ENSEMBL:ENSG00000241186", "HGNC:11701", "OMIM:187395", "UMLS:C1420667", "UniProtKB:F5H1T8", "ENSEMBL:ENSP00000446375", "ENSEMBL:ENSP00000446375.1", "UMLS:C1456342", "MESH:C070636", "UniProtKB:P13385", "PR:P13385", "ENSEMBL:ENSP00000296145", "ENSEMBL:ENSP00000296145.5", "UMLS:C4724710"], "information_content": 100.0}
{"id": "UniProtKB:Q0PNE2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "elongator complex protein 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q0PNE2-1", "PR:Q0PNE2-1", "ENSEMBL:ENSP00000296149", "ENSEMBL:ENSP00000296149.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDB6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase DTX3L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDB6-1", "PR:Q8TDB6-1", "ENSEMBL:ENSP00000296161", "ENSEMBL:ENSP00000296161.4"], "information_content": 100.0}
{"id": "MONDO:0007154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arteriovenous malformations of the brain", "equivalent_identifiers": ["MONDO:0007154", "DOID:0060688", "OMIM:108010", "orphanet:46724", "UMLS:C0007772", "UMLS:C0917804", "UMLS:C2676095", "MESH:D002538", "MEDDRA:10056371", "NCIT:C2936", "SNOMEDCT:234142008", "medgen:214590", "icd11.foundation:153256729", "ICD10:Q28.2", "HP:0002408"], "information_content": 100.0}
{"id": "NCBIGene:3693", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITGB5", "equivalent_identifiers": ["NCBIGene:3693", "ENSEMBL:ENSG00000082781", "HGNC:6160", "OMIM:147561", "UMLS:C1416501", "UniProtKB:L7RT22", "UniProtKB:P18084", "PR:P18084", "ENSEMBL:ENSP00000296181", "ENSEMBL:ENSP00000296181.4", "UMLS:C4041858", "MESH:C000599263"], "information_content": 82.6}
{"id": "NCBIGene:79753", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNIP1", "equivalent_identifiers": ["NCBIGene:79753", "ENSEMBL:ENSG00000163877", "HGNC:30587", "OMIM:608241", "UMLS:C1822806", "UniProtKB:B1AK66", "UMLS:C1439063", "MESH:C411545", "UniProtKB:Q8TAD8", "PR:Q8TAD8", "ENSEMBL:ENSP00000296215", "ENSEMBL:ENSP00000296215.5"], "information_content": 100.0}
{"id": "MONDO:0001163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paranoid personality disorder", "equivalent_identifiers": ["MONDO:0001163", "DOID:10938", "UMLS:C0030477", "MESH:D010260", "MEDDRA:10033868", "MEDDRA:10033869", "NCIT:C92630", "SNOMEDCT:13601005", "medgen:45321", "icd11.foundation:1066693864", "ICD10:F60.0", "ICD9:301.0"], "information_content": 100.0}
{"id": "NCBIGene:7802", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNALI1", "equivalent_identifiers": ["NCBIGene:7802", "ENSEMBL:ENSG00000163879", "HGNC:14353", "OMIM:602135", "UMLS:C1422587", "UniProtKB:A0A499FIY3", "ENSEMBL:ENSP00000296218", "ENSEMBL:ENSP00000296218.7", "UniProtKB:O14645", "PR:O14645"]}
{"id": "NCBIGene:114885", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OSBPL11", "equivalent_identifiers": ["NCBIGene:114885", "ENSEMBL:ENSG00000144909", "HGNC:16397", "OMIM:606739", "UMLS:C1424248", "UniProtKB:A0A140VJQ6", "UMLS:C1737976", "MESH:C000730255", "UniProtKB:Q9BXB4", "PR:Q9BXB4", "ENSEMBL:ENSP00000296220", "ENSEMBL:ENSP00000296220.5"], "information_content": 87.2}
{"id": "NCBIGene:28999", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLF15", "equivalent_identifiers": ["NCBIGene:28999", "ENSEMBL:ENSG00000163884", "HGNC:14536", "OMIM:606465", "UMLS:C1422735", "UniProtKB:Q9UIH9", "PR:Q9UIH9", "ENSEMBL:ENSP00000296233", "ENSEMBL:ENSP00000296233.3", "UMLS:C0961190", "MESH:C414172"], "information_content": 95.4}
{"id": "NCBIGene:94032", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAMK2N2", "equivalent_identifiers": ["NCBIGene:94032", "ENSEMBL:ENSG00000163888", "HGNC:24197", "OMIM:608721", "UMLS:C1824523", "UniProtKB:Q96S95", "PR:Q96S95", "ENSEMBL:ENSP00000296238", "ENSEMBL:ENSP00000296238.3", "UMLS:C1431470", "MESH:C114422"], "information_content": 95.4}
{"id": "NCBIGene:200879", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIPH", "equivalent_identifiers": ["NCBIGene:200879", "ENSEMBL:ENSG00000163898", "HGNC:18483", "OMIM:607365", "UMLS:C1425545", "UniProtKB:A2IBA6", "ENSEMBL:ENSP00000396384", "ENSEMBL:ENSP00000396384.2", "UMLS:C5433504", "UniProtKB:Q8WWY8", "PR:Q8WWY8", "ENSEMBL:ENSP00000296252", "ENSEMBL:ENSP00000296252.4"], "information_content": 92.8}
{"id": "NCBIGene:6184", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPN1", "equivalent_identifiers": ["NCBIGene:6184", "ENSEMBL:ENSG00000163902", "HGNC:10381", "OMIM:180470", "UMLS:C1419697", "UniProtKB:P04843", "PR:P04843", "ENSEMBL:ENSP00000296255", "ENSEMBL:ENSP00000296255.3", "UMLS:C4083206", "UMLS:C5391917", "MESH:C000708276"], "information_content": 87.2}
{"id": "UniProtKB:Q9HBG6-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 122 homolog isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBG6-5", "PR:Q9HBG6-5", "ENSEMBL:ENSP00000296266", "ENSEMBL:ENSP00000296266.3"], "information_content": 100.0}
{"id": "NCBIGene:6010", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHO", "equivalent_identifiers": ["NCBIGene:6010", "ENSEMBL:ENSG00000163914", "HGNC:10012", "OMIM:180380", "UMLS:C1419385", "UniProtKB:P08100", "PR:P08100", "ENSEMBL:ENSP00000296271", "ENSEMBL:ENSP00000296271.3", "UMLS:C4283897"], "information_content": 92.8}
{"id": "UniProtKB:P48740-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mannan-binding lectin serine protease 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P48740-2", "PR:P48740-2", "ENSEMBL:ENSP00000296280", "ENSEMBL:ENSP00000296280.7", "ENSEMBL:ENSP00000517062", "ENSEMBL:ENSP00000517062.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFM7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-17 receptor D isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFM7-1", "PR:Q8NFM7-1", "ENSEMBL:ENSP00000296318", "ENSEMBL:ENSP00000296318.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8WVZ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyltransferase ZDHHC19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVZ1-1", "PR:Q8WVZ1-1", "ENSEMBL:ENSP00000296326", "ENSEMBL:ENSP00000296326.3"], "information_content": 100.0}
{"id": "NCBIGene:200931", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC51A", "equivalent_identifiers": ["NCBIGene:200931", "ENSEMBL:ENSG00000163959", "HGNC:29955", "OMIM:612084", "UMLS:C2677531", "UniProtKB:Q86UW1", "PR:Q86UW1", "ENSEMBL:ENSP00000296327", "ENSEMBL:ENSP00000296327.5"], "information_content": 95.4}
{"id": "NCBIGene:26043", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBXN7", "equivalent_identifiers": ["NCBIGene:26043", "ENSEMBL:ENSG00000163960", "HGNC:29119", "OMIM:616379", "UMLS:C1823586", "UniProtKB:O94888", "PR:O94888", "ENSEMBL:ENSP00000296328", "ENSEMBL:ENSP00000296328.4", "UMLS:C2606816", "MESH:C531895"], "information_content": 92.8}
{"id": "UniProtKB:Q92622-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92622-1", "PR:Q92622-1", "ENSEMBL:ENSP00000296343", "ENSEMBL:ENSP00000296343.5"], "information_content": 100.0}
{"id": "UniProtKB:P08582-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanotransferrin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P08582-1", "PR:P08582-1", "ENSEMBL:ENSP00000296350", "ENSEMBL:ENSP00000296350.5"], "information_content": 100.0}
{"id": "NCBIGene:133060", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTOP1", "equivalent_identifiers": ["NCBIGene:133060", "ENSEMBL:ENSG00000163982", "HGNC:19656", "OMIM:607806", "UMLS:C1426306", "UniProtKB:Q7RTM1", "PR:Q7RTM1", "ENSEMBL:ENSP00000296358", "ENSEMBL:ENSP00000296358.4", "UMLS:C4276546", "MESH:C000609451"], "information_content": 95.4}
{"id": "MONDO:0012985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spherocytosis type 5", "equivalent_identifiers": ["MONDO:0012985", "DOID:0110920", "OMIM:612690", "UMLS:C2675192", "MESH:C567202", "medgen:436371"], "information_content": 100.0}
{"id": "MONDO:0009593", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylometaphyseal dysplasia, Sedaghatian type", "equivalent_identifiers": ["MONDO:0009593", "DOID:0112298", "OMIM:250220", "orphanet:93317", "UMLS:C1855229", "MESH:C535798", "medgen:340816", "icd11.foundation:975738106"], "information_content": 100.0}
{"id": "MONDO:0004759", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "zoophilia", "equivalent_identifiers": ["MONDO:0004759", "DOID:9336", "UMLS:C0152186", "MEDDRA:10004492", "MEDDRA:10048285", "SNOMEDCT:81463002", "medgen:508916", "ICD9:302.1"], "information_content": 100.0}
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{"id": "UniProtKB:Q8N6F1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "claudin-19 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6F1-1", "PR:Q8N6F1-1", "ENSEMBL:ENSP00000296387", "ENSEMBL:ENSP00000296387.1"], "information_content": 100.0}
{"id": "NCBIGene:23173", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "METAP1", "equivalent_identifiers": ["NCBIGene:23173", "ENSEMBL:ENSG00000164024", "HGNC:15789", "OMIM:610151", "UMLS:C1423731", "UniProtKB:P53582", "PR:P53582", "ENSEMBL:ENSP00000296411", "ENSEMBL:ENSP00000296411.6", "UMLS:C1675714", "MESH:C506619"], "information_content": 89.4}
{"id": "NCBIGene:128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADH5", "equivalent_identifiers": ["NCBIGene:128", "ENSEMBL:ENSG00000197894", "HGNC:253", "OMIM:103710", "UMLS:C1412239", "UniProtKB:P11766", "PR:P11766", "ENSEMBL:ENSP00000296412", "ENSEMBL:ENSP00000296412.8", "UniProtKB:Q6IRT1"], "information_content": 90.9}
{"id": "NCBIGene:3015", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2AZ1", "equivalent_identifiers": ["NCBIGene:3015", "ENSEMBL:ENSG00000164032", "HGNC:4741", "OMIM:142763", "UMLS:C1415408", "UniProtKB:P0C0S5", "PR:P0C0S5", "ENSEMBL:ENSP00000296417", "ENSEMBL:ENSP00000296417.5", "UMLS:C4284633", "MESH:C077020"], "information_content": 90.9}
{"id": "UniProtKB:Q9ULC0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endomucin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULC0-1", "PR:Q9ULC0-1", "ENSEMBL:ENSP00000296420", "ENSEMBL:ENSP00000296420.4"], "information_content": 100.0}
{"id": "UniProtKB:Q4ZJI4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/hydrogen exchanger 9B1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4ZJI4-1", "PR:Q4ZJI4-1", "ENSEMBL:ENSP00000296422", "ENSEMBL:ENSP00000296422.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUT1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dehydrogenase/reductase SDR family member 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUT1-1", "PR:Q9BUT1-1", "ENSEMBL:ENSP00000296424", "ENSEMBL:ENSP00000296424.4"], "information_content": 100.0}
{"id": "NCBIGene:820", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAMP", "equivalent_identifiers": ["NCBIGene:820", "ENSEMBL:ENSG00000164047", "HGNC:1472", "OMIM:600474", "UMLS:C1413106", "UniProtKB:A0A384NPR0", "UMLS:C5565266", "MESH:C000718839", "UniProtKB:J3KNB4", "ENSEMBL:ENSP00000296435", "ENSEMBL:ENSP00000296435.2", "UniProtKB:P49913", "PR:P49913", "ENSEMBL:ENSP00000498425", "ENSEMBL:ENSP00000498425.1"]}
{"id": "MONDO:0007603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Felty syndrome", "equivalent_identifiers": ["MONDO:0007603", "DOID:11042", "OMIM:134750", "orphanet:47612", "EFO:0007269", "UMLS:C0015773", "MESH:D005258", "MEDDRA:10016386", "NCIT:C84712", "SNOMEDCT:57160007", "medgen:4674", "ICD10:M05.0", "ICD9:714.1"], "information_content": 100.0}
{"id": "NCBIGene:8927", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BSN", "equivalent_identifiers": ["NCBIGene:8927", "ENSEMBL:ENSG00000164061", "HGNC:1117", "OMIM:604020", "UMLS:C1412829", "UniProtKB:Q9UPA5", "PR:Q9UPA5", "ENSEMBL:ENSP00000296452", "ENSEMBL:ENSP00000296452.4", "UMLS:C1308851", "MESH:C498440"], "information_content": 92.8}
{"id": "NCBIGene:327", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APEH", "equivalent_identifiers": ["NCBIGene:327", "ENSEMBL:ENSG00000164062", "HGNC:586", "OMIM:102645", "UMLS:C1332101", "UniProtKB:P13798", "PR:P13798", "ENSEMBL:ENSP00000296456", "ENSEMBL:ENSP00000296456.5", "UMLS:C4548799", "MESH:C000623199"], "information_content": 92.8}
{"id": "NCBIGene:22824", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPA4L", "equivalent_identifiers": ["NCBIGene:22824", "ENSEMBL:ENSG00000164070", "HGNC:17041", "OMIM:619077", "UMLS:C1537386", "UniProtKB:A0A140VKE7", "UniProtKB:B4DXT2", "UniProtKB:B4DZR0", "UniProtKB:E9PDE8", "ENSEMBL:ENSP00000425645", "ENSEMBL:ENSP00000425645.1", "UniProtKB:O95757", "PR:O95757", "ENSEMBL:ENSP00000296464", "ENSEMBL:ENSP00000296464.3", "ENSEMBL:ENSP00000422482", "ENSEMBL:ENSP00000422482.1", "UMLS:C1452345", "MESH:C490979"], "information_content": 90.9}
{"id": "UniProtKB:Q86VX9-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar fusion protein MON1 homolog A isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q86VX9-5", "PR:Q86VX9-5", "ENSEMBL:ENSP00000296473", "ENSEMBL:ENSP00000296473.4", "ENSEMBL:ENSP00000399613", "ENSEMBL:ENSP00000399613.2", "ENSEMBL:ENSP00000494294", "ENSEMBL:ENSP00000494294.1", "ENSEMBL:ENSP00000494452", "ENSEMBL:ENSP00000494452.1"], "information_content": 100.0}
{"id": "MONDO:0001285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endometriosis of pelvic peritoneum", "equivalent_identifiers": ["MONDO:0001285", "DOID:11429", "UMLS:C0156345", "MEDDRA:10014785", "SNOMEDCT:198251001", "medgen:510249", "icd11.foundation:1015401835", "ICD10:N80.3", "ICD9:617.3"], "information_content": 100.0}
{"id": "UniProtKB:Q04912-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "macrophage-stimulating protein receptor isoform RON (human)", "equivalent_identifiers": ["UniProtKB:Q04912-1", "PR:Q04912-1", "ENSEMBL:ENSP00000296474", "ENSEMBL:ENSP00000296474.3"], "information_content": 100.0}
{"id": "MONDO:0021553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transverse myelitis", "equivalent_identifiers": ["MONDO:0021553", "DOID:0080743", "UMLS:C0026976", "MEDDRA:10028527", "SNOMEDCT:16631009", "medgen:6488", "icd11.foundation:1328350091"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBT0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POC1 centriolar protein homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBT0-1", "PR:Q8NBT0-1", "ENSEMBL:ENSP00000296484", "ENSEMBL:ENSP00000296484.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TBG4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ethanolamine-phosphate phospho-lyase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBG4-1", "PR:Q8TBG4-1", "ENSEMBL:ENSP00000296486", "ENSEMBL:ENSP00000296486.3"], "information_content": 100.0}
{"id": "MONDO:0014052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 8", "equivalent_identifiers": ["MONDO:0014052", "DOID:0110657", "OMIM:615120", "UMLS:C3808739", "medgen:815069"], "information_content": 100.0}
{"id": "NCBIGene:80335", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR82", "equivalent_identifiers": ["NCBIGene:80335", "ENSEMBL:ENSG00000164091", "HGNC:28826", "OMIM:611059", "UMLS:C1823375", "UniProtKB:Q6UXN9", "PR:Q6UXN9", "ENSEMBL:ENSP00000296490", "ENSEMBL:ENSP00000296490.3", "UMLS:C2603671", "MESH:C534139"], "information_content": 88.2}
{"id": "NCBIGene:8492", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS12", "equivalent_identifiers": ["NCBIGene:8492", "ENSEMBL:ENSG00000164099", "HGNC:9477", "OMIM:606709", "UMLS:C1418967", "UniProtKB:P56730", "PR:P56730", "ENSEMBL:ENSP00000296498", "ENSEMBL:ENSP00000296498.3", "UMLS:C0666548", "MESH:C108493", "UniProtKB:Q96I80"], "information_content": 95.4}
{"id": "UniProtKB:O95803-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95803-1", "PR:O95803-1", "ENSEMBL:ENSP00000296499", "ENSEMBL:ENSP00000296499.5"], "information_content": 100.0}
{"id": "NCBIGene:3148", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMGB2", "equivalent_identifiers": ["NCBIGene:3148", "ENSEMBL:ENSG00000164104", "HGNC:5000", "OMIM:163906", "UMLS:C1333909", "UniProtKB:P26583", "PR:P26583", "ENSEMBL:ENSP00000296503", "ENSEMBL:ENSP00000296503.5", "ENSEMBL:ENSP00000393448", "ENSEMBL:ENSP00000393448.2", "ENSEMBL:ENSP00000404912", "ENSEMBL:ENSP00000404912.2", "UMLS:C5441587", "MESH:C000731158"], "information_content": 88.2}
{"id": "NCBIGene:8819", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAP30", "equivalent_identifiers": ["NCBIGene:8819", "ENSEMBL:ENSG00000164105", "HGNC:10532", "OMIM:603378", "UMLS:C1419814", "UniProtKB:O75446", "PR:O75446", "ENSEMBL:ENSP00000296504", "ENSEMBL:ENSP00000296504.3", "UMLS:C1447640", "MESH:C113294"], "information_content": 88.2}
{"id": "NCBIGene:11341", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCRG1", "equivalent_identifiers": ["NCBIGene:11341", "ENSEMBL:ENSG00000164106", "HGNC:17036", "OMIM:603163", "UMLS:C1864175", "UniProtKB:O75711", "PR:O75711", "ENSEMBL:ENSP00000296506", "ENSEMBL:ENSP00000296506.2", "UMLS:C1722297", "MESH:C510821", "UniProtKB:Q6FGG5"], "information_content": 100.0}
{"id": "UniProtKB:Q13257-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitotic spindle assembly checkpoint protein MAD2A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13257-1", "PR:Q13257-1", "ENSEMBL:ENSP00000296509", "ENSEMBL:ENSP00000296509.5"], "information_content": 100.0}
{"id": "NCBIGene:308", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANXA5", "equivalent_identifiers": ["NCBIGene:308", "ENSEMBL:ENSG00000164111", "HGNC:543", "OMIM:131230", "UMLS:C1332095", "UniProtKB:P08758", "PR:P08758", "ENSEMBL:ENSP00000296511", "ENSEMBL:ENSP00000296511.5", "UMLS:C4048686", "UMLS:C5197438", "MESH:C000632306", "UniProtKB:V9HWE0"], "information_content": 95.4}
{"id": "UniProtKB:Q96M93-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenosine deaminase domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96M93-1", "PR:Q96M93-1", "ENSEMBL:ENSP00000296513", "ENSEMBL:ENSP00000296513.2"], "information_content": 100.0}
{"id": "UniProtKB:Q02108-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanylate cyclase soluble subunit alpha-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02108-1", "PR:Q02108-1", "ENSEMBL:ENSP00000296518", "ENSEMBL:ENSP00000296518.7", "ENSEMBL:ENSP00000412201", "ENSEMBL:ENSP00000412201.2", "ENSEMBL:ENSP00000421493", "ENSEMBL:ENSP00000421493.1", "ENSEMBL:ENSP00000424361", "ENSEMBL:ENSP00000424361.1", "ENSEMBL:ENSP00000426040", "ENSEMBL:ENSP00000426040.1"], "information_content": 100.0}
{"id": "UniProtKB:P15428-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P15428-1", "PR:P15428-1", "ENSEMBL:ENSP00000296522", "ENSEMBL:ENSP00000296522.6"], "information_content": 100.0}
{"id": "UniProtKB:P42262-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor 2 isoform Flip (human)", "equivalent_identifiers": ["UniProtKB:P42262-2", "PR:P42262-2", "ENSEMBL:ENSP00000296526", "ENSEMBL:ENSP00000296526.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXJ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-alpha-acetyltransferase 15, NatA auxiliary subunit isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXJ9-1", "PR:Q9BXJ9-1", "ENSEMBL:ENSP00000296543", "ENSEMBL:ENSP00000296543.4"], "information_content": 100.0}
{"id": "UniProtKB:P40933-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-15 isoform IL15-S48AA (human)", "equivalent_identifiers": ["UniProtKB:P40933-1", "PR:P40933-1", "ENSEMBL:ENSP00000296545", "ENSEMBL:ENSP00000296545.7", "ENSEMBL:ENSP00000323505", "ENSEMBL:ENSP00000323505.4", "ENSEMBL:ENSP00000435462", "ENSEMBL:ENSP00000435462.1"], "information_content": 100.0}
{"id": "NCBIGene:23379", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ICE1", "equivalent_identifiers": ["NCBIGene:23379", "ENSEMBL:ENSG00000164151", "HGNC:29154", "OMIM:617958", "UMLS:C3892016", "UniProtKB:Q9Y2F5", "PR:Q9Y2F5", "ENSEMBL:ENSP00000296564", "ENSEMBL:ENSP00000296564.7", "UMLS:C4507494", "MESH:C000620192"], "information_content": 92.8}
{"id": "UniProtKB:Q96QV1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hedgehog-interacting protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QV1-1", "PR:Q96QV1-1", "ENSEMBL:ENSP00000296575", "ENSEMBL:ENSP00000296575.3"], "information_content": 100.0}
{"id": "NCBIGene:6059", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABCE1", "equivalent_identifiers": ["NCBIGene:6059", "ENSEMBL:ENSG00000164163", "HGNC:69", "OMIM:601213", "UMLS:C1412092", "UniProtKB:P61221", "PR:P61221", "ENSEMBL:ENSP00000296577", "ENSEMBL:ENSP00000296577.4", "UMLS:C1313226", "MESH:C501917"], "information_content": 89.4}
{"id": "NCBIGene:11157", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LSM6", "equivalent_identifiers": ["NCBIGene:11157", "ENSEMBL:ENSG00000164167", "HGNC:17017", "OMIM:607286", "UMLS:C1424688", "UniProtKB:P62312", "PR:P62312", "ENSEMBL:ENSP00000296581", "ENSEMBL:ENSP00000296581.5", "ENSEMBL:ENSP00000420929", "ENSEMBL:ENSP00000420929.1", "ENSEMBL:ENSP00000422392", "ENSEMBL:ENSP00000422392.1", "ENSEMBL:ENSP00000427036", "ENSEMBL:ENSP00000427036.1", "ENSEMBL:ENSP00000497311", "ENSEMBL:ENSP00000497311.1", "UMLS:C2743669", "MESH:C543116"], "information_content": 95.4}
{"id": "MONDO:0011683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 4", "equivalent_identifiers": ["MONDO:0011683", "DOID:0070098", "OMIM:606574", "orphanet:79435", "UMLS:C1847836", "MESH:C564696", "SNOMEDCT:715632003", "medgen:338324", "icd11.foundation:1286886811"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVA4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 184C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVA4-1", "PR:Q9NVA4-1", "ENSEMBL:ENSP00000296582", "ENSEMBL:ENSP00000296582.3"], "information_content": 100.0}
{"id": "MONDO:0010618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial isolated hypoparathyroidism due to agenesis of parathyroid gland", "equivalent_identifiers": ["MONDO:0010618", "DOID:0111388", "OMIM:307700", "orphanet:2239", "UMLS:C0342344", "UMLS:C1321907", "MESH:C562782", "MESH:C563238", "NCIT:C131079", "SNOMEDCT:237655001", "SNOMEDCT:73291005", "medgen:87437", "icd11.foundation:1282942432", "HP:0008211"], "information_content": 100.0}
{"id": "NCBIGene:3673", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITGA2", "equivalent_identifiers": ["NCBIGene:3673", "ENSEMBL:ENSG00000164171", "HGNC:6137", "OMIM:192974", "UMLS:C1416484", "UniProtKB:P17301", "PR:P17301", "ENSEMBL:ENSP00000296585", "ENSEMBL:ENSP00000296585.5", "UMLS:C5400894", "UMLS:C5828892", "MESH:C000727529"], "information_content": 85.5}
{"id": "MONDO:0013622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 9", "equivalent_identifiers": ["MONDO:0013622", "DOID:0111045", "OMIM:614200", "orphanet:98886", "UMLS:C3280114", "MESH:C566000", "medgen:481744"], "information_content": 100.0}
{"id": "UniProtKB:Q9UMX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-associated transporter protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMX9-1", "PR:Q9UMX9-1", "ENSEMBL:ENSP00000296589", "ENSEMBL:ENSP00000296589.4"], "information_content": 100.0}
{"id": "UniProtKB:O43854-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EGF-like repeat and discoidin I-like domain-containing protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43854-1", "PR:O43854-1", "ENSEMBL:ENSP00000296591", "ENSEMBL:ENSP00000296591.4"], "information_content": 100.0}
{"id": "NCBIGene:91942", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFAF2", "equivalent_identifiers": ["NCBIGene:91942", "ENSEMBL:ENSG00000164182", "HGNC:28086", "OMIM:609653", "UMLS:C1826392", "UniProtKB:A0A0S2Z5U1", "UMLS:C1570681", "MESH:C501824", "UniProtKB:Q8N183", "PR:Q8N183", "ENSEMBL:ENSP00000296597", "ENSEMBL:ENSP00000296597.5"], "information_content": 100.0}
{"id": "NCBIGene:92255", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LMBRD2", "equivalent_identifiers": ["NCBIGene:92255", "ENSEMBL:ENSG00000164187", "HGNC:25287", "OMIM:619490", "UMLS:C1825865", "UniProtKB:Q68DH5", "PR:Q68DH5", "ENSEMBL:ENSP00000296603", "ENSEMBL:ENSP00000296603.4"], "information_content": 95.4}
{"id": "MONDO:0011970", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", "equivalent_identifiers": ["MONDO:0011970", "DOID:0111645", "OMIM:608105", "orphanet:163727", "UMLS:C1842531", "MESH:C535499", "SNOMEDCT:1231737000", "medgen:334104", "icd11.foundation:1311096281"], "information_content": 100.0}
{"id": "UniProtKB:Q96DR4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "StAR-related lipid transfer protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DR4-1", "PR:Q96DR4-1", "ENSEMBL:ENSP00000296632", "ENSEMBL:ENSP00000296632.3", "ENSEMBL:ENSP00000427478", "ENSEMBL:ENSP00000427478.2"], "information_content": 100.0}
{"id": "UniProtKB:O00254-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteinase-activated receptor 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00254-1", "PR:O00254-1", "ENSEMBL:ENSP00000296641", "ENSEMBL:ENSP00000296641.3"], "information_content": 100.0}
{"id": "NCBIGene:651746", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD33B", "equivalent_identifiers": ["NCBIGene:651746", "ENSEMBL:ENSG00000164236", "HGNC:35240", "UMLS:C2678598", "UniProtKB:A6NCL7", "PR:A6NCL7", "ENSEMBL:ENSP00000296657", "ENSEMBL:ENSP00000296657.4"], "information_content": 100.0}
{"id": "NCBIGene:134147", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CMBL", "equivalent_identifiers": ["NCBIGene:134147", "ENSEMBL:ENSG00000164237", "HGNC:25090", "OMIM:613379", "UMLS:C1824759", "UniProtKB:Q96DG6", "PR:Q96DG6", "ENSEMBL:ENSP00000296658", "ENSEMBL:ENSP00000296658.3"], "information_content": 92.8}
{"id": "NCBIGene:6228", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS23", "equivalent_identifiers": ["NCBIGene:6228", "ENSEMBL:ENSG00000186468", "HGNC:10410", "OMIM:603683", "UMLS:C1419724", "UniProtKB:A8K517", "UMLS:C1313335", "MESH:C484213", "UniProtKB:P62266", "PR:P62266", "ENSEMBL:ENSP00000296674", "ENSEMBL:ENSP00000296674.8", "ENSEMBL:ENSP00000498621", "ENSEMBL:ENSP00000498621.1"], "information_content": 89.4}
{"id": "NCBIGene:2150", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "F2RL1", "equivalent_identifiers": ["NCBIGene:2150", "ENSEMBL:ENSG00000164251", "HGNC:3538", "OMIM:600933", "UMLS:C1414506", "UniProtKB:P55085", "PR:P55085", "ENSEMBL:ENSP00000296677", "ENSEMBL:ENSP00000296677.4", "UMLS:C4508437", "MESH:C000621508"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAD4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 41 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAD4-1", "PR:Q9HAD4-1", "ENSEMBL:ENSP00000296679", "ENSEMBL:ENSP00000296679.4"], "information_content": 100.0}
{"id": "NCBIGene:56979", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRDM9", "equivalent_identifiers": ["NCBIGene:56979", "ENSEMBL:ENSG00000164256", "HGNC:13994", "OMIM:609760", "UMLS:C1422331", "UniProtKB:A0AAG2UW24", "ENSEMBL:ENSP00000517945", "ENSEMBL:ENSP00000517945.1", "ENSEMBL:ENSP00000517946", "ENSEMBL:ENSP00000517946.1", "UniProtKB:Q9NQV7", "PR:Q9NQV7", "ENSEMBL:ENSP00000296682", "ENSEMBL:ENSP00000296682.4", "ENSEMBL:ENSP00000425471", "ENSEMBL:ENSP00000425471.2", "UMLS:C2743896", "MESH:C544431"], "information_content": 100.0}
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{"id": "NCBIGene:9607", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CARTPT", "equivalent_identifiers": ["NCBIGene:9607", "ENSEMBL:ENSG00000164326", "HGNC:24323", "OMIM:602606", "UMLS:C1824528", "UniProtKB:Q16568", "PR:Q16568", "ENSEMBL:ENSP00000296777", "ENSEMBL:ENSP00000296777.4", "UMLS:C1738809", "MESH:C000730360"], "information_content": 100.0}
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{"id": "UniProtKB:O15455-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Toll-like receptor 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15455-1", "PR:O15455-1", "ENSEMBL:ENSP00000296795", "ENSEMBL:ENSP00000296795.3"], "information_content": 100.0}
{"id": "NCBIGene:133957", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC127", "equivalent_identifiers": ["NCBIGene:133957", "ENSEMBL:ENSG00000164366", "HGNC:30520", "OMIM:621138", "UMLS:C1824654", "UniProtKB:Q96BQ5", "PR:Q96BQ5", "ENSEMBL:ENSP00000296824", "ENSEMBL:ENSP00000296824.2"], "information_content": 95.4}
{"id": "MONDO:0014532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant mitochondrial myopathy with exercise intolerance", "equivalent_identifiers": ["MONDO:0014532", "DOID:0081357", "OMIM:616209", "orphanet:457050", "UMLS:C4015513", "SNOMEDCT:1222644009", "medgen:863950"], "information_content": 100.0}
{"id": "NCBIGene:94234", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXQ1", "equivalent_identifiers": ["NCBIGene:94234", "ENSEMBL:ENSG00000164379", "HGNC:20951", "OMIM:612788", "UMLS:C1427203", "UniProtKB:Q9C009", "PR:Q9C009", "ENSEMBL:ENSP00000296839", "ENSEMBL:ENSP00000296839.2", "UMLS:C1433084", "MESH:C484579"], "information_content": 100.0}
{"id": "UniProtKB:Q969F2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein naked cuticle homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969F2-1", "PR:Q969F2-1", "ENSEMBL:ENSP00000296849", "ENSEMBL:ENSP00000296849.5", "ENSEMBL:ENSP00000479003", "ENSEMBL:ENSP00000479003.1"], "information_content": 100.0}
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{"id": "NCBIGene:27242", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFRSF21", "equivalent_identifiers": ["NCBIGene:27242", "ENSEMBL:ENSG00000146072", "HGNC:13469", "OMIM:605732", "UMLS:C1422006", "UniProtKB:O75509", "PR:O75509", "ENSEMBL:ENSP00000296861", "ENSEMBL:ENSP00000296861.2", "UMLS:C1431460", "UMLS:C3541241", "MESH:C114109"], "information_content": 82.6}
{"id": "NCBIGene:3562", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL3", "equivalent_identifiers": ["NCBIGene:3562", "ENSEMBL:ENSG00000164399", "HGNC:6011", "OMIM:147740", "UMLS:C1334117", "UniProtKB:P08700", "PR:P08700", "ENSEMBL:ENSP00000296870", "ENSEMBL:ENSP00000296870.2", "UMLS:C1701061", "MESH:C508596"], "information_content": 95.4}
{"id": "NCBIGene:1437", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSF2", "equivalent_identifiers": ["NCBIGene:1437", "ENSEMBL:ENSG00000164400", "HGNC:2434", "OMIM:138960", "UMLS:C1332791", "UniProtKB:P04141", "PR:P04141", "ENSEMBL:ENSP00000296871", "ENSEMBL:ENSP00000296871.2", "UMLS:C5197246", "MESH:C000631512"], "information_content": 92.8}
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{"id": "NCBIGene:30012", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLX3", "equivalent_identifiers": ["NCBIGene:30012", "ENSEMBL:ENSG00000164438", "HGNC:13532", "OMIM:604640", "UMLS:C1422043", "UniProtKB:O43711", "PR:O43711", "ENSEMBL:ENSP00000296921", "ENSEMBL:ENSP00000296921.5", "UMLS:C1452164", "UMLS:C3273820", "MESH:C489494"], "information_content": 95.4}
{"id": "UniProtKB:P06748-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleophosmin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P06748-1", "PR:P06748-1", "ENSEMBL:ENSP00000296930", "ENSEMBL:ENSP00000296930.5", "ENSEMBL:ENSP00000428755", "ENSEMBL:ENSP00000428755.1"], "information_content": 100.0}
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{"id": "MONDO:0008977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrosarcoma", "equivalent_identifiers": ["MONDO:0008977", "DOID:3371", "OMIM:215300", "orphanet:55880", "EFO:0000333", "EFO:0010832", "UMLS:C0008479", "UMLS:C1335473", "MESH:D002813", "MEDDRA:10008726", "MEDDRA:10008734", "MEDDRA:10008737", "NCIT:C2946", "NCIT:C7155", "SNOMEDCT:1163016002", "SNOMEDCT:14990007", "SNOMEDCT:443520009", "SNOMEDCT:735679005", "medgen:3054", "HP:0006765"], "information_content": 73.1}
{"id": "UniProtKB:Q8IUR6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CREB3 regulatory factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUR6-1", "PR:Q8IUR6-1", "ENSEMBL:ENSP00000296953", "ENSEMBL:ENSP00000296953.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N8Z6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "discoidin, CUB and LCCL domain-containing protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8Z6-2", "PR:Q8N8Z6-2", "ENSEMBL:ENSP00000296955", "ENSEMBL:ENSP00000296955.8"], "information_content": 100.0}
{"id": "UniProtKB:Q969J5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-22 receptor subunit alpha-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969J5-1", "PR:Q969J5-1", "ENSEMBL:ENSP00000296980", "ENSEMBL:ENSP00000296980.2"], "information_content": 100.0}
{"id": "NCBIGene:221613", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2AC1", "equivalent_identifiers": ["NCBIGene:221613", "ENSEMBL:ENSG00000164508", "HGNC:18729", "OMIM:613499", "UMLS:C5202972", "UniProtKB:Q96QV6", "PR:Q96QV6", "ENSEMBL:ENSP00000297012", "ENSEMBL:ENSP00000297012.4", "ENSEMBL:ENSP00000515391", "ENSEMBL:ENSP00000515391.1", "UMLS:C5202683"], "information_content": 80.6}
{"id": "UniProtKB:Q9Y6U3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "scinderin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6U3-1", "PR:Q9Y6U3-1", "ENSEMBL:ENSP00000297029", "ENSEMBL:ENSP00000297029.5"], "information_content": 100.0}
{"id": "UniProtKB:O43739-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytohesin-3 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:O43739-2", "PR:O43739-2", "ENSEMBL:ENSP00000297044", "ENSEMBL:ENSP00000297044.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCG7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diacylglycerol lipase-beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCG7-1", "PR:Q8NCG7-1", "ENSEMBL:ENSP00000297056", "ENSEMBL:ENSP00000297056.6"], "information_content": 100.0}
{"id": "UniProtKB:Q13595-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transformer-2 protein homolog alpha isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q13595-1", "PR:Q13595-1", "ENSEMBL:ENSP00000297071", "ENSEMBL:ENSP00000297071.4"], "information_content": 100.0}
{"id": "UniProtKB:Q86SR1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypeptide N-acetylgalactosaminyltransferase 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86SR1-1", "PR:Q86SR1-1", "ENSEMBL:ENSP00000297107", "ENSEMBL:ENSP00000297107.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAJ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone deacetylase complex subunit SAP30L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAJ7-1", "PR:Q9HAJ7-1", "ENSEMBL:ENSP00000297109", "ENSEMBL:ENSP00000297109.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDC0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myozenin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDC0-1", "PR:Q8TDC0-1", "ENSEMBL:ENSP00000297130", "ENSEMBL:ENSP00000297130.4", "ENSEMBL:ENSP00000428815", "ENSEMBL:ENSP00000428815.1"], "information_content": 100.0}
{"id": "MONDO:0010515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meester-Loeys syndrome", "equivalent_identifiers": ["MONDO:0010515", "DOID:0111861", "OMIM:300989", "UMLS:C4310811", "NCIT:C187989", "medgen:934778"], "information_content": 100.0}
{"id": "MONDO:0009293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease V", "equivalent_identifiers": ["MONDO:0009293", "DOID:2746", "OMIM:232600", "orphanet:368", "UMLS:C0017924", "MESH:D006012", "MEDDRA:10018462", "MEDDRA:10026969", "MEDDRA:10026970", "MEDDRA:10045269", "MEDDRA:10053245", "NCIT:C84738", "SNOMEDCT:55912009", "medgen:5341", "ICD10:E74.04"], "information_content": 100.0}
{"id": "UniProtKB:Q9UP83-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "conserved oligomeric Golgi complex subunit 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UP83-4", "PR:Q9UP83-4", "ENSEMBL:ENSP00000297135", "ENSEMBL:ENSP00000297135.4"], "information_content": 100.0}
{"id": "NCBIGene:63974", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEUROD6", "equivalent_identifiers": ["NCBIGene:63974", "ENSEMBL:ENSG00000164600", "HGNC:13804", "OMIM:611513", "UMLS:C1422203", "UniProtKB:A0A090N7T3", "UMLS:C1453115", "MESH:C490553", "UniProtKB:Q96NK8", "PR:Q96NK8", "ENSEMBL:ENSP00000297142", "ENSEMBL:ENSP00000297142.3"], "information_content": 95.4}
{"id": "NCBIGene:154743", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAMTOR", "equivalent_identifiers": ["NCBIGene:154743", "ENSEMBL:ENSG00000164603", "HGNC:26475", "OMIM:617855", "UMLS:C2681245", "UniProtKB:Q1RMZ1", "PR:Q1RMZ1", "ENSEMBL:ENSP00000297145", "ENSEMBL:ENSP00000297145.4", "UMLS:C4705377", "MESH:C000626777"], "information_content": 95.4}
{"id": "NCBIGene:54329", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR85", "equivalent_identifiers": ["NCBIGene:54329", "ENSEMBL:ENSG00000164604", "HGNC:4536", "OMIM:605188", "UMLS:C1415266", "UniProtKB:A4D0T8", "UMLS:C0971177", "MESH:C416227", "UniProtKB:P60893", "PR:P60893", "ENSEMBL:ENSP00000297146", "ENSEMBL:ENSP00000297146.2", "ENSEMBL:ENSP00000396763", "ENSEMBL:ENSP00000396763.1", "ENSEMBL:ENSP00000401178", "ENSEMBL:ENSP00000401178.1", "ENSEMBL:ENSP00000476863", "ENSEMBL:ENSP00000476863.1", "UniProtKB:Q8NEN2"], "information_content": 95.4}
{"id": "NCBIGene:819", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAMLG", "equivalent_identifiers": ["NCBIGene:819", "ENSEMBL:ENSG00000164615", "HGNC:1471", "OMIM:601118", "UMLS:C1332660", "UniProtKB:P49069", "PR:P49069", "ENSEMBL:ENSP00000297156", "ENSEMBL:ENSP00000297156.2", "UMLS:C1448833", "MESH:C089404"], "information_content": 92.8}
{"id": "NCBIGene:6100", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RP9", "equivalent_identifiers": ["NCBIGene:6100", "ENSEMBL:ENSG00000164610", "HGNC:10288", "OMIM:607331", "UMLS:C1419617", "UniProtKB:A0A090N8Z0", "UMLS:C1143780", "MESH:C465969", "UniProtKB:Q8TA86", "PR:Q8TA86", "ENSEMBL:ENSP00000297157", "ENSEMBL:ENSP00000297157.3"], "information_content": 100.0}
{"id": "NCBIGene:3313", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPA9", "equivalent_identifiers": ["NCBIGene:3313", "ENSEMBL:ENSG00000113013", "HGNC:5244", "OMIM:600548", "UMLS:C1825549", "UniProtKB:A0A384P5G6", "UMLS:C1452439", "MESH:C492001", "UniProtKB:P38646", "PR:P38646", "ENSEMBL:ENSP00000297185", "ENSEMBL:ENSP00000297185.3"], "information_content": 88.2}
{"id": "NCBIGene:26872", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STEAP1", "equivalent_identifiers": ["NCBIGene:26872", "ENSEMBL:ENSG00000164647", "HGNC:11378", "OMIM:604415", "UMLS:C1539881", "UniProtKB:Q9UHE8", "PR:Q9UHE8", "ENSEMBL:ENSP00000297205", "ENSEMBL:ENSP00000297205.2", "UMLS:C1432218", "MESH:C432763"], "information_content": 92.8}
{"id": "NCBIGene:2171", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FABP5", "equivalent_identifiers": ["NCBIGene:2171", "ENSEMBL:ENSG00000164687", "HGNC:3560", "OMIM:605168", "UMLS:C1333528", "UniProtKB:E7DVW5", "UniProtKB:Q01469", "PR:Q01469", "ENSEMBL:ENSP00000297258", "ENSEMBL:ENSP00000297258.6", "UMLS:C1312695", "MESH:C493412"], "information_content": 84.2}
{"id": "NCBIGene:6469", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SHH", "equivalent_identifiers": ["NCBIGene:6469", "ENSEMBL:ENSG00000164690", "HGNC:10848", "OMIM:600725", "UMLS:C1335824", "UniProtKB:Q15465", "PR:Q15465", "ENSEMBL:ENSP00000297261", "ENSEMBL:ENSP00000297261.2", "UMLS:C0258846", "MESH:C509239"], "information_content": 77.8}
{"id": "NCBIGene:92421", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHMP4C", "equivalent_identifiers": ["NCBIGene:92421", "ENSEMBL:ENSG00000164695", "HGNC:30599", "OMIM:610899", "UMLS:C1538459", "UniProtKB:Q96CF2", "PR:Q96CF2", "ENSEMBL:ENSP00000297265", "ENSEMBL:ENSP00000297265.4", "UMLS:C1434819", "MESH:C541008"], "information_content": 100.0}
{"id": "UniProtKB:Q4ZHG4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibronectin type III domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4ZHG4-1", "PR:Q4ZHG4-1", "ENSEMBL:ENSP00000297267", "ENSEMBL:ENSP00000297267.9"], "information_content": 100.0}
{"id": "NCBIGene:1278", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL1A2", "equivalent_identifiers": ["NCBIGene:1278", "ENSEMBL:ENSG00000164692", "HGNC:2198", "OMIM:120160", "UMLS:C1332773", "UniProtKB:A0A0S2Z3H5", "UniProtKB:P08123", "PR:P08123", "ENSEMBL:ENSP00000297268", "ENSEMBL:ENSP00000297268.6", "UMLS:C4077504", "MESH:C000601279"], "information_content": 89.4}
{"id": "MONDO:0019669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypochondrogenesis", "equivalent_identifiers": ["MONDO:0019669", "DOID:0080044", "orphanet:93297", "UMLS:C0542428", "MESH:C563007", "SNOMEDCT:205483007", "medgen:107448", "icd11.foundation:1494246635"], "information_content": 100.0}
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{"id": "MONDO:0011938", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 2", "equivalent_identifiers": ["MONDO:0011938", "DOID:0110107", "OMIM:607941", "UMLS:C1842778", "MESH:C538263", "medgen:334249"], "information_content": 100.0}
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{"id": "MONDO:0013561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondrodysplasia with joint dislocations, gPAPP type", "equivalent_identifiers": ["MONDO:0013561", "DOID:0112224", "OMIM:614078", "orphanet:280586", "UMLS:C3279757", "SNOMEDCT:782882009", "medgen:481387"], "information_content": 100.0}
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{"id": "NCBIGene:5224", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGAM2", "equivalent_identifiers": ["NCBIGene:5224", "ENSEMBL:ENSG00000164708", "HGNC:8889", "OMIM:612931", "UMLS:C1418502", "UniProtKB:P15259", "PR:P15259", "ENSEMBL:ENSP00000297283", "ENSEMBL:ENSP00000297283.3", "UMLS:C5889842"], "information_content": 95.4}
{"id": "NCBIGene:22853", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LMTK2", "equivalent_identifiers": ["NCBIGene:22853", "ENSEMBL:ENSG00000164715", "HGNC:17880", "OMIM:610989", "UMLS:C1425151", "UniProtKB:Q8IWU2", "PR:Q8IWU2", "ENSEMBL:ENSP00000297293", "ENSEMBL:ENSP00000297293.5", "UMLS:C1173880", "UMLS:C2348192", "MESH:C470798"], "information_content": 100.0}
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{"id": "UniProtKB:O76081-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 20 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:O76081-1", "PR:O76081-1", "ENSEMBL:ENSP00000297313", "ENSEMBL:ENSP00000297313.3"], "information_content": 100.0}
{"id": "NCBIGene:64321", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOX17", "equivalent_identifiers": ["NCBIGene:64321", "ENSEMBL:ENSG00000164736", "HGNC:18122", "OMIM:610928", "UMLS:C1425328", "UniProtKB:Q9H6I2", "PR:Q9H6I2", "ENSEMBL:ENSP00000297316", "ENSEMBL:ENSP00000297316.4", "UMLS:C1434776", "MESH:C109188"], "information_content": 100.0}
{"id": "MONDO:0001999", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary pulmonary hypertension", "equivalent_identifiers": ["MONDO:0001999", "DOID:14557", "UMLS:C0152171", "MEDDRA:10036727", "MEDDRA:10037405", "medgen:57749", "ICD10:I27.0", "ICD9:416.0"], "information_content": 95.4}
{"id": "NCBIGene:107", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADCY1", "equivalent_identifiers": ["NCBIGene:107", "ENSEMBL:ENSG00000164742", "HGNC:232", "OMIM:103072", "UMLS:C1412220", "UniProtKB:C9J1J0", "ENSEMBL:ENSP00000392721", "ENSEMBL:ENSP00000392721.1", "ENSEMBL:ENSP00000479770", "ENSEMBL:ENSP00000479770.1", "UMLS:C1313295", "UniProtKB:Q08828", "PR:Q08828", "ENSEMBL:ENSP00000297323", "ENSEMBL:ENSP00000297323.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAQ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SUN domain-containing protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAQ9-1", "PR:Q8TAQ9-1", "ENSEMBL:ENSP00000297325", "ENSEMBL:ENSP00000297325.4", "ENSEMBL:ENSP00000378939", "ENSEMBL:ENSP00000378939.2"], "information_content": 100.0}
{"id": "MONDO:0013178", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy due to LMNA mutation", "equivalent_identifiers": ["MONDO:0013178", "DOID:0110640", "OMIM:613205", "orphanet:157973", "UMLS:C2750785", "MESH:C567708", "NCIT:C148369", "SNOMEDCT:771272007", "medgen:413043"], "information_content": 100.0}
{"id": "NCBIGene:5885", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAD21", "equivalent_identifiers": ["NCBIGene:5885", "ENSEMBL:ENSG00000164754", "HGNC:9811", "OMIM:606462", "UMLS:C1419235", "UniProtKB:O60216", "PR:O60216", "ENSEMBL:ENSP00000297338", "ENSEMBL:ENSP00000297338.2", "ENSEMBL:ENSP00000427923", "ENSEMBL:ENSP00000427923.2", "ENSEMBL:ENSP00000428158", "ENSEMBL:ENSP00000428158.2", "ENSEMBL:ENSP00000429342", "ENSEMBL:ENSP00000429342.2", "ENSEMBL:ENSP00000430273", "ENSEMBL:ENSP00000430273.2", "ENSEMBL:ENSP00000430524", "ENSEMBL:ENSP00000430524.2", "ENSEMBL:ENSP00000509687", "ENSEMBL:ENSP00000509687.1", "UMLS:C0967024", "UMLS:C2985428", "MESH:C429022"], "information_content": 88.2}
{"id": "UniProtKB:Q96HR3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 30 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HR3-1", "PR:Q96HR3-1", "ENSEMBL:ENSP00000297347", "ENSEMBL:ENSP00000297347.3"], "information_content": 100.0}
{"id": "NCBIGene:4982", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFRSF11B", "equivalent_identifiers": ["NCBIGene:4982", "ENSEMBL:ENSG00000164761", "HGNC:11909", "OMIM:602643", "UMLS:C1336645", "UniProtKB:O00300", "PR:O00300", "ENSEMBL:ENSP00000297350", "ENSEMBL:ENSP00000297350.4", "UMLS:C1308614", "MESH:C506030"], "information_content": 89.4}
{"id": "NCBIGene:157869", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SBSPON", "equivalent_identifiers": ["NCBIGene:157869", "ENSEMBL:ENSG00000164764", "HGNC:30362", "OMIM:621005", "UMLS:C2681257", "UniProtKB:Q8IVN8", "PR:Q8IVN8", "ENSEMBL:ENSP00000297354", "ENSEMBL:ENSP00000297354.6"], "information_content": 89.4}
{"id": "MONDO:0012437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 21 multiple types", "equivalent_identifiers": ["MONDO:0012437", "DOID:0110256", "OMIM:610202", "UMLS:C1857768", "MESH:C565703", "medgen:347538"], "information_content": 100.0}
{"id": "MONDO:0018920", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peripartum cardiomyopathy", "equivalent_identifiers": ["MONDO:0018920", "DOID:9997", "orphanet:563", "EFO:0002628", "UMLS:C0269972", "UMLS:C0877208", "MESH:D000099088", "MEDDRA:10049430", "MEDDRA:10071182", "NCIT:C171602", "SNOMEDCT:62377009", "medgen:163756", "icd11.foundation:1218807936", "ICD10:O90.3", "ICD9:674.5"], "information_content": 95.4}
{"id": "NCBIGene:2020", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EN2", "equivalent_identifiers": ["NCBIGene:2020", "ENSEMBL:ENSG00000164778", "HGNC:3343", "OMIM:131310", "UMLS:C1414396", "UniProtKB:P19622", "PR:P19622", "ENSEMBL:ENSP00000297375", "ENSEMBL:ENSP00000297375.4", "UMLS:C1568426", "UMLS:C3272490"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z407-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CUB and sushi domain-containing protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z407-1", "PR:Q7Z407-1", "ENSEMBL:ENSP00000297405", "ENSEMBL:ENSP00000297405.5"], "information_content": 100.0}
{"id": "UniProtKB:Q14159-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA repair-scaffolding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14159-1", "PR:Q14159-1", "ENSEMBL:ENSP00000297423", "ENSEMBL:ENSP00000297423.4"], "information_content": 100.0}
{"id": "UniProtKB:O43913-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "origin recognition complex subunit 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43913-1", "PR:O43913-1", "ENSEMBL:ENSP00000297431", "ENSEMBL:ENSP00000297431.4"], "information_content": 100.0}
{"id": "NCBIGene:1669", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFA4", "equivalent_identifiers": ["NCBIGene:1669", "ENSEMBL:ENSG00000164821", "HGNC:2763", "OMIM:601157", "UMLS:C1413975", "UniProtKB:P12838", "PR:P12838", "ENSEMBL:ENSP00000297435", "ENSEMBL:ENSP00000297435.2", "ENSEMBL:ENSP00000493844", "ENSEMBL:ENSP00000493844.1", "UMLS:C0122621", "MESH:C406428"], "information_content": 100.0}
{"id": "NCBIGene:1671", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFA6", "equivalent_identifiers": ["NCBIGene:1671", "ENSEMBL:ENSG00000164822", "HGNC:2765", "OMIM:600471", "UMLS:C1413977", "UniProtKB:Q01524", "PR:Q01524", "ENSEMBL:ENSP00000297436", "ENSEMBL:ENSP00000297436.2", "ENSEMBL:ENSP00000494361", "ENSEMBL:ENSP00000494361.1", "UMLS:C1870775", "MESH:C517765"], "information_content": 95.4}
{"id": "NCBIGene:1672", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFB1", "equivalent_identifiers": ["NCBIGene:1672", "ENSEMBL:ENSG00000164825", "HGNC:2766", "OMIM:602056", "UMLS:C1333213", "UniProtKB:P60022", "PR:P60022", "ENSEMBL:ENSP00000297439", "ENSEMBL:ENSP00000297439.3", "ENSEMBL:ENSP00000494448", "ENSEMBL:ENSP00000494448.1", "UMLS:C0625647", "MESH:C406407"], "information_content": 100.0}
{"id": "MONDO:0859221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Yoon-Bellen neurodevelopmental syndrome", "equivalent_identifiers": ["MONDO:0859221", "DOID:0070468", "OMIM:619701", "UMLS:C5562066", "medgen:1794276"], "information_content": 100.0}
{"id": "UniProtKB:Q86Y56-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal assembly factor 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86Y56-1", "PR:Q86Y56-1", "ENSEMBL:ENSP00000297440", "ENSEMBL:ENSP00000297440.6"], "information_content": 100.0}
{"id": "MONDO:0010351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group B", "equivalent_identifiers": ["MONDO:0010351", "DOID:0111098", "OMIM:300514", "UMLS:C1845292", "MESH:C564497", "NCIT:C125703", "medgen:336901"], "information_content": 92.8}
{"id": "NCBIGene:157753", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM74", "equivalent_identifiers": ["NCBIGene:157753", "ENSEMBL:ENSG00000164841", "HGNC:26409", "OMIM:613935", "UMLS:C1823336", "UniProtKB:Q96NL1", "PR:Q96NL1", "ENSEMBL:ENSP00000297459", "ENSEMBL:ENSP00000297459.3", "UMLS:C2353088", "MESH:C528238"], "information_content": 92.8}
{"id": "UniProtKB:P29474-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nitric oxide synthase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P29474-1", "PR:P29474-1", "ENSEMBL:ENSP00000297494", "ENSEMBL:ENSP00000297494.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial potassium channel ATP-binding subunit isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUT2-1", "PR:Q9NUT2-1", "ENSEMBL:ENSP00000297504", "ENSEMBL:ENSP00000297504.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8IY33-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MICAL-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY33-1", "PR:Q8IY33-1", "ENSEMBL:ENSP00000297508", "ENSEMBL:ENSP00000297508.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHC3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acid-sensing ion channel 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHC3-3", "PR:Q9UHC3-3", "ENSEMBL:ENSP00000297512", "ENSEMBL:ENSP00000297512.8"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCU3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 7 member 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCU3-1", "PR:Q8TCU3-1", "ENSEMBL:ENSP00000297524", "ENSEMBL:ENSP00000297524.3"], "information_content": 100.0}
{"id": "MONDO:0013827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperekplexia 3", "equivalent_identifiers": ["MONDO:0013827", "DOID:0060698", "OMIM:614618", "UMLS:C3553288", "medgen:766202"], "information_content": 100.0}
{"id": "MONDO:0014323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 68", "equivalent_identifiers": ["MONDO:0014323", "DOID:0110374", "OMIM:615725", "UMLS:C3810380", "medgen:816710"], "information_content": 100.0}
{"id": "UniProtKB:Q14296-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fas-activated serine/threonine kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14296-1", "PR:Q14296-1", "ENSEMBL:ENSP00000297532", "ENSEMBL:ENSP00000297532.6"], "information_content": 100.0}
{"id": "NCBIGene:2636", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GBX1", "equivalent_identifiers": ["NCBIGene:2636", "ENSEMBL:ENSG00000164900", "HGNC:4185", "OMIM:603354", "UMLS:C1415006", "UniProtKB:Q14549", "PR:Q14549", "ENSEMBL:ENSP00000297537", "ENSEMBL:ENSP00000297537.4", "UMLS:C1450118", "MESH:C422443"], "information_content": 100.0}
{"id": "NCBIGene:51808", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHAX", "equivalent_identifiers": ["NCBIGene:51808", "ENSEMBL:ENSG00000164902", "HGNC:10241", "OMIM:604924", "UMLS:C1419588", "UniProtKB:Q9H814", "PR:Q9H814", "ENSEMBL:ENSP00000297540", "ENSEMBL:ENSP00000297540.4", "UMLS:C1436848", "MESH:C498688"], "information_content": 95.4}
{"id": "MONDO:0008215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset autosomal dominant demyelinating leukodystrophy", "equivalent_identifiers": ["MONDO:0008215", "DOID:0051015", "DOID:0060785", "OMIM.PS:169500", "orphanet:99027", "UMLS:C1868512", "UMLS:C3164344", "MESH:C566813", "SNOMEDCT:448054001", "medgen:356995"], "information_content": 92.8}
{"id": "NCBIGene:81034", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A32", "equivalent_identifiers": ["NCBIGene:81034", "ENSEMBL:ENSG00000164933", "HGNC:29683", "OMIM:138480", "UMLS:C1822742", "UniProtKB:Q9H2D1", "PR:Q9H2D1", "ENSEMBL:ENSP00000297578", "ENSEMBL:ENSP00000297578.4", "UMLS:C0962855", "MESH:C417506"], "information_content": 100.0}
{"id": "NCBIGene:25879", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCAF13", "equivalent_identifiers": ["NCBIGene:25879", "ENSEMBL:ENSG00000164934", "HGNC:24535", "OMIM:616196", "UMLS:C1823851", "UniProtKB:A0A087WT20", "ENSEMBL:ENSP00000297579", "ENSEMBL:ENSP00000297579.5", "ENSEMBL:ENSP00000477526", "ENSEMBL:ENSP00000477526.1", "UMLS:C4508189", "MESH:C000621240", "UniProtKB:Q9NV06", "PR:Q9NV06"]}
{"id": "UniProtKB:Q9H295-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dendritic cell-specific transmembrane protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H295-1", "PR:Q9H295-1", "ENSEMBL:ENSP00000297581", "ENSEMBL:ENSP00000297581.2"], "information_content": 100.0}
{"id": "UniProtKB:Q69YN4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein virilizer homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q69YN4-1", "PR:Q69YN4-1", "ENSEMBL:ENSP00000297591", "ENSEMBL:ENSP00000297591.5"], "information_content": 100.0}
{"id": "NCBIGene:2669", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GEM", "equivalent_identifiers": ["NCBIGene:2669", "ENSEMBL:ENSG00000164949", "HGNC:4234", "OMIM:600164", "UMLS:C1415041", "UniProtKB:P55040", "PR:P55040", "ENSEMBL:ENSP00000297596", "ENSEMBL:ENSP00000297596.2", "ENSEMBL:ENSP00000379497", "ENSEMBL:ENSP00000379497.2", "UMLS:C1447311", "MESH:C490245"], "information_content": 95.4}
{"id": "NCBIGene:57462", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYORG", "equivalent_identifiers": ["NCBIGene:57462", "ENSEMBL:ENSG00000164976", "HGNC:19918", "OMIM:618255", "UMLS:C1426528", "UniProtKB:Q6NSJ0", "PR:Q6NSJ0", "ENSEMBL:ENSP00000297625", "ENSEMBL:ENSP00000297625.8", "UMLS:C5197547", "MESH:C000632885"], "information_content": 100.0}
{"id": "NCBIGene:157378", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM65", "equivalent_identifiers": ["NCBIGene:157378", "ENSEMBL:ENSG00000164983", "HGNC:25203", "OMIM:616609", "UMLS:C1823329", "UniProtKB:Q6PI78", "PR:Q6PI78", "ENSEMBL:ENSP00000297632", "ENSEMBL:ENSP00000297632.6", "UMLS:C4549666", "UMLS:C4761476", "MESH:C000622468"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZ76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "contactin-associated protein-like 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZ76-1", "PR:Q9BZ76-1", "ENSEMBL:ENSP00000297668", "ENSEMBL:ENSP00000297668.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2F3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3 beta-hydroxysteroid dehydrogenase type 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2F3-1", "PR:Q9H2F3-1", "ENSEMBL:ENSP00000297679", "ENSEMBL:ENSP00000297679.5"], "information_content": 100.0}
{"id": "NCBIGene:4783", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NFIL3", "equivalent_identifiers": ["NCBIGene:4783", "ENSEMBL:ENSG00000165030", "HGNC:7787", "OMIM:605327", "UMLS:C1417706", "UniProtKB:Q16649", "PR:Q16649", "ENSEMBL:ENSP00000297689", "ENSEMBL:ENSP00000297689.2", "ENSEMBL:ENSP00000520782", "ENSEMBL:ENSP00000520782.1", "UMLS:C1430265", "UMLS:C2827458", "MESH:C497440"], "information_content": 95.4}
{"id": "UniProtKB:Q9H898-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger matrin-type protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H898-1", "PR:Q9H898-1", "ENSEMBL:ENSP00000297737", "ENSEMBL:ENSP00000297737.6"], "information_content": 100.0}
{"id": "MONDO:0006714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coronary aneurysm", "equivalent_identifiers": ["MONDO:0006714", "DOID:3362", "EFO:1000881", "UMLS:C0010051", "UMLS:C4255100", "MESH:D003323", "MEDDRA:10002348", "MEDDRA:10011071", "NCIT:C168176", "SNOMEDCT:50570003", "medgen:3622", "ICD10:I25.41", "ICD9:414.11", "HP:0030882"], "information_content": 95.4}
{"id": "NCBIGene:136242", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS37", "equivalent_identifiers": ["NCBIGene:136242", "ENSEMBL:ENSG00000165076", "HGNC:29211", "UMLS:C2828568", "UniProtKB:A4D1T9", "PR:A4D1T9", "ENSEMBL:ENSP00000297767", "ENSEMBL:ENSP00000297767.3", "ENSEMBL:ENSP00000414461", "ENSEMBL:ENSP00000414461.1", "UMLS:C4308649", "MESH:C000614169"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4T0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carboxypeptidase A6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4T0-1", "PR:Q8N4T0-1", "ENSEMBL:ENSP00000297770", "ENSEMBL:ENSP00000297770.4"], "information_content": 100.0}
{"id": "MONDO:0001565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abnormal retinal correspondence", "equivalent_identifiers": ["MONDO:0001565", "DOID:12668", "UMLS:C0155010", "MEDDRA:10000172", "SNOMEDCT:79195003", "medgen:509763", "icd11.foundation:119512999", "ICD10:H53.31", "ICD9:368.34"], "information_content": 100.0}
{"id": "MONDO:0009696", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile myoclonic epilepsy", "equivalent_identifiers": ["MONDO:0009696", "DOID:4890", "OMIM:254770", "OMIM.PS:254770", "orphanet:307", "UMLS:C0270853", "MESH:D020190", "MEDDRA:10071082", "NCIT:C84796", "SNOMEDCT:6204001", "medgen:78738", "icd11.foundation:1014397110"], "information_content": 85.5}
{"id": "MONDO:0007295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "self-limited epilepsy with centrotemporal spikes", "equivalent_identifiers": ["MONDO:0007295", "DOID:3329", "OMIM:117100", "orphanet:1945", "UMLS:C0376532", "UMLS:C2363129", "MESH:D019305", "MEDDRA:10070530", "NCIT:C116538", "SNOMEDCT:44145005", "medgen:138210", "icd11.foundation:1046279423"], "information_content": 100.0}
{"id": "MONDO:0000160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial adult myoclonic", "equivalent_identifiers": ["MONDO:0000160", "DOID:0111689", "OMIM.PS:601068"], "information_content": 85.5}
{"id": "NCBIGene:216", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALDH1A1", "equivalent_identifiers": ["NCBIGene:216", "ENSEMBL:ENSG00000165092", "HGNC:402", "OMIM:100640", "UMLS:C1412333", "UniProtKB:P00352", "PR:P00352", "ENSEMBL:ENSP00000297785", "ENSEMBL:ENSP00000297785.3", "UMLS:C1721673", "MESH:C510223", "UniProtKB:V9HW83"], "information_content": 83.6}
{"id": "UniProtKB:Q96JN2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 136 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JN2-1", "PR:Q96JN2-1", "ENSEMBL:ENSP00000297788", "ENSEMBL:ENSP00000297788.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8NB78-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific histone demethylase 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8NB78-2", "PR:Q8NB78-2", "ENSEMBL:ENSP00000297792", "ENSEMBL:ENSP00000297792.5"], "information_content": 100.0}
{"id": "UniProtKB:Q86VH2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF27 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VH2-1", "PR:Q86VH2-1", "ENSEMBL:ENSP00000297814", "ENSEMBL:ENSP00000297814.2"], "information_content": 100.0}
{"id": "NCBIGene:136263", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSMEM1", "equivalent_identifiers": ["NCBIGene:136263", "ENSEMBL:ENSG00000165120", "HGNC:29580", "UMLS:C1824230", "UniProtKB:A0A3B3ISA2", "ENSEMBL:ENSP00000497213", "ENSEMBL:ENSP00000497213.1", "UniProtKB:Q8WWF3", "PR:Q8WWF3", "ENSEMBL:ENSP00000297819", "ENSEMBL:ENSP00000297819.3"], "information_content": 95.4}
{"id": "MONDO:0019462", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "splenic marginal zone lymphoma", "equivalent_identifiers": ["MONDO:0019462", "DOID:0050750", "orphanet:86854", "EFO:1000550", "UMLS:C0349632", "MEDDRA:10041650", "MEDDRA:10041651", "MEDDRA:10062113", "NCIT:C4663", "SNOMEDCT:128802003", "SNOMEDCT:277551008", "SNOMEDCT:763666008", "medgen:138108", "icd11.foundation:1002343712"], "information_content": 92.8}
{"id": "UniProtKB:Q68DC2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and SAM domain-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68DC2-1", "PR:Q68DC2-1", "ENSEMBL:ENSP00000297837", "ENSEMBL:ENSP00000297837.6"], "information_content": 100.0}
{"id": "UniProtKB:Q05707-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XIV) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q05707-1", "PR:Q05707-1", "ENSEMBL:ENSP00000297848", "ENSEMBL:ENSP00000297848.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc fingers and homeoboxes protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKY1-1", "PR:Q9UKY1-1", "ENSEMBL:ENSP00000297857", "ENSEMBL:ENSP00000297857.2", "ENSEMBL:ENSP00000378938", "ENSEMBL:ENSP00000378938.2", "ENSEMBL:ENSP00000428821", "ENSEMBL:ENSP00000428821.1"], "information_content": 95.4}
{"id": "NCBIGene:155368", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "METTL27", "equivalent_identifiers": ["NCBIGene:155368", "ENSEMBL:ENSG00000165171", "HGNC:19068", "OMIM:612546", "UMLS:C1538074", "UniProtKB:Q8N6F8", "PR:Q8N6F8", "ENSEMBL:ENSP00000297873", "ENSEMBL:ENSP00000297873.4"], "information_content": 100.0}
{"id": "NCBIGene:2277", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VEGFD", "equivalent_identifiers": ["NCBIGene:2277", "ENSEMBL:ENSG00000165197", "HGNC:3708", "OMIM:300091", "UMLS:C1414615", "UniProtKB:O43915", "PR:O43915", "ENSEMBL:ENSP00000297904", "ENSEMBL:ENSP00000297904.3", "UMLS:C3656951", "MESH:C579459"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3S1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase WNK2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3S1-1", "PR:Q9Y3S1-1", "ENSEMBL:ENSP00000297954", "ENSEMBL:ENSP00000297954.4"], "information_content": 100.0}
{"id": "UniProtKB:O14520-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aquaporin-7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14520-1", "PR:O14520-1", "ENSEMBL:ENSP00000297988", "ENSEMBL:ENSP00000297988.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6R4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolar protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6R4-1", "PR:Q9H6R4-1", "ENSEMBL:ENSP00000297990", "ENSEMBL:ENSP00000297990.4"], "information_content": 100.0}
{"id": "UniProtKB:Q92482-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aquaporin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92482-1", "PR:Q92482-1", "ENSEMBL:ENSP00000297991", "ENSEMBL:ENSP00000297991.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6PF06-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA methyltransferase 10 homolog B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PF06-1", "PR:Q6PF06-1", "ENSEMBL:ENSP00000297994", "ENSEMBL:ENSP00000297994.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5W041-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "armadillo repeat-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5W041-2", "PR:Q5W041-2", "ENSEMBL:ENSP00000298032", "ENSEMBL:ENSP00000298032.5"], "information_content": 100.0}
{"id": "MONDO:0012540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age related macular degeneration 4", "equivalent_identifiers": ["MONDO:0012540", "DOID:0110017", "OMIM:610698", "UMLS:C1853147", "MESH:C565196", "NCIT:C174215", "medgen:339914"], "information_content": 100.0}
{"id": "UniProtKB:Q14680-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "maternal embryonic leucine zipper kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14680-1", "PR:Q14680-1", "ENSEMBL:ENSP00000298048", "ENSEMBL:ENSP00000298048.2"], "information_content": 100.0}
{"id": "UniProtKB:Q05D60-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deuterosome assembly protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q05D60-1", "PR:Q05D60-1", "ENSEMBL:ENSP00000298050", "ENSEMBL:ENSP00000298050.3"], "information_content": 100.0}
{"id": "NCBIGene:254170", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXO33", "equivalent_identifiers": ["NCBIGene:254170", "ENSEMBL:ENSG00000165355", "HGNC:19833", "OMIM:609103", "UMLS:C1426460", "UniProtKB:Q7Z6M2", "PR:Q7Z6M2", "ENSEMBL:ENSP00000298097", "ENSEMBL:ENSP00000298097.7"], "information_content": 95.4}
{"id": "NCBIGene:145581", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRFN5", "equivalent_identifiers": ["NCBIGene:145581", "ENSEMBL:ENSG00000165379", "HGNC:20360", "OMIM:612811", "UMLS:C1426894", "UniProtKB:G3V364", "ENSEMBL:ENSP00000451067", "ENSEMBL:ENSP00000451067.1", "UMLS:C4705020", "MESH:C000626229", "UniProtKB:Q96NI6", "PR:Q96NI6", "ENSEMBL:ENSP00000298119", "ENSEMBL:ENSP00000298119.4"], "information_content": 95.4}
{"id": "NCBIGene:115825", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDFY2", "equivalent_identifiers": ["NCBIGene:115825", "ENSEMBL:ENSG00000139668", "HGNC:20482", "OMIM:610418", "UMLS:C1426966", "UniProtKB:Q96P53", "PR:Q96P53", "ENSEMBL:ENSP00000298125", "ENSEMBL:ENSP00000298125.4", "UMLS:C1741293", "MESH:C513679"], "information_content": 95.4}
{"id": "NCBIGene:171546", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPTSSA", "equivalent_identifiers": ["NCBIGene:171546", "ENSEMBL:ENSG00000165389", "HGNC:20361", "OMIM:613540", "UMLS:C1426895", "UniProtKB:Q969W0", "PR:Q969W0", "ENSEMBL:ENSP00000298130", "ENSEMBL:ENSP00000298130.4"], "information_content": 90.9}
{"id": "NCBIGene:7486", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WRN", "equivalent_identifiers": ["NCBIGene:7486", "ENSEMBL:ENSG00000165392", "HGNC:12791", "OMIM:604611", "UMLS:C1337007", "UniProtKB:Q14191", "PR:Q14191", "ENSEMBL:ENSP00000298139", "ENSEMBL:ENSP00000298139.5", "UMLS:C0388246", "MESH:C098785"], "information_content": 90.9}
{"id": "UniProtKB:Q9Y281-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cofilin-2 isoform CFL2b (human)", "equivalent_identifiers": ["UniProtKB:Q9Y281-1", "PR:Q9Y281-1", "ENSEMBL:ENSP00000298159", "ENSEMBL:ENSP00000298159.6", "ENSEMBL:ENSP00000340635", "ENSEMBL:ENSP00000340635.3", "ENSEMBL:ENSP00000500375", "ENSEMBL:ENSP00000500375.1", "ENSEMBL:ENSP00000500532", "ENSEMBL:ENSP00000500532.1"], "information_content": 100.0}
{"id": "NCBIGene:280658", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSX7", "equivalent_identifiers": ["NCBIGene:280658", "ENSEMBL:ENSG00000187754", "HGNC:19653", "OMIM:300542", "UMLS:C1426303", "UniProtKB:Q7RTT5", "PR:Q7RTT5", "ENSEMBL:ENSP00000298181", "ENSEMBL:ENSP00000298181.5"], "information_content": 100.0}
{"id": "NCBIGene:283209", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGM2L1", "equivalent_identifiers": ["NCBIGene:283209", "ENSEMBL:ENSG00000165434", "HGNC:20898", "OMIM:611610", "UMLS:C1427194", "UniProtKB:Q6PCE3", "PR:Q6PCE3", "ENSEMBL:ENSP00000298198", "ENSEMBL:ENSP00000298198.4"], "information_content": 100.0}
{"id": "NCBIGene:2350", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOLR2", "equivalent_identifiers": ["NCBIGene:2350", "ENSEMBL:ENSG00000165457", "HGNC:3793", "OMIM:136425", "UMLS:C1414664", "UniProtKB:P14207", "PR:P14207", "ENSEMBL:ENSP00000298223", "ENSEMBL:ENSP00000298223.6", "UMLS:C4308057", "MESH:C000610095"], "information_content": 85.5}
{"id": "UniProtKB:O15357-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15357-1", "PR:O15357-1", "ENSEMBL:ENSP00000298229", "ENSEMBL:ENSP00000298229.2"], "information_content": 100.0}
{"id": "MONDO:0044212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic idiopathic urticaria", "equivalent_identifiers": ["MONDO:0044212", "DOID:0080749", "UMLS:C0578870", "MEDDRA:10072757", "MEDDRA:10072758", "SNOMEDCT:302162004", "medgen:662267", "HP:0410133"], "information_content": 100.0}
{"id": "NCBIGene:401", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHOX2A", "equivalent_identifiers": ["NCBIGene:401", "ENSEMBL:ENSG00000165462", "HGNC:691", "OMIM:602753", "UMLS:C1412535", "UniProtKB:O14813", "PR:O14813", "ENSEMBL:ENSP00000298231", "ENSEMBL:ENSP00000298231.5", "UMLS:C1452542", "MESH:C491061"], "information_content": 92.8}
{"id": "MONDO:0001286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exotropia", "equivalent_identifiers": ["MONDO:0001286", "DOID:1143", "UMLS:C0015310", "MESH:D005099", "MEDDRA:10013528", "MEDDRA:10013529", "MEDDRA:10015694", "MEDDRA:10015695", "NCIT:C34601", "SNOMEDCT:399054005", "SNOMEDCT:399252000", "medgen:4613", "icd11.foundation:2116859618", "ICD10:H50.1", "ICD9:378.1", "HP:0000577"], "information_content": 83.6}
{"id": "MONDO:0004897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotropia", "equivalent_identifiers": ["MONDO:0004897", "DOID:9841", "UMLS:C0152208", "MEDDRA:10021130", "MEDDRA:10056712", "NCIT:C42086", "SNOMEDCT:29491004", "medgen:101826", "icd11.foundation:1840811827", "ICD9:378.32", "HP:0025584"], "information_content": 92.8}
{"id": "MONDO:0007473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Duane Syndrome", "equivalent_identifiers": ["MONDO:0007473", "DOID:12557", "OMIM.PS:126800", "orphanet:233", "UMLS:C0013261", "UMLS:C1846464", "UMLS:C4072873", "MESH:D004370", "MEDDRA:10013799", "MEDDRA:10090415", "MEDDRA:10090416", "NCIT:C84678", "SNOMEDCT:60318001", "medgen:4413", "ICD10:H50.81", "ICD9:378.71", "HP:0009921"], "information_content": 89.4}
{"id": "MONDO:0003425", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ophthalmoplegia", "equivalent_identifiers": ["MONDO:0003425", "DOID:539", "UMLS:C0029089", "MESH:D009886", "MEDDRA:10015953", "MEDDRA:10028324", "MEDDRA:10030075", "MEDDRA:10030875", "MEDDRA:10030878", "MEDDRA:10033807", "MEDDRA:10033820", "NCIT:C79697", "SNOMEDCT:16110005", "medgen:45205", "icd11.foundation:1848588735", "ICD9:378.56", "HP:0000602"], "information_content": 79.9}
{"id": "MONDO:0008006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mobius syndrome", "equivalent_identifiers": ["MONDO:0008006", "DOID:13501", "OMIM:157900", "orphanet:570", "UMLS:C0221060", "MESH:D020331", "MEDDRA:10030069", "MEDDRA:10088169", "MEDDRA:10088170", "NCIT:C84893", "SNOMEDCT:766987006", "SNOMEDCT:89444000", "medgen:66357"], "information_content": 95.4}
{"id": "MONDO:0001143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paralytic strabismus", "equivalent_identifiers": ["MONDO:0001143", "DOID:10863", "EFO:0009678", "UMLS:C0152221", "MEDDRA:10033844", "MEDDRA:10033845", "SNOMEDCT:400942002", "medgen:508935", "ICD10:H49", "ICD9:378.5", "HP:0031775"], "information_content": 100.0}
{"id": "MONDO:0004893", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertropia", "equivalent_identifiers": ["MONDO:0004893", "DOID:9837", "UMLS:C0020575", "MEDDRA:10020902", "NCIT:C34716", "SNOMEDCT:40608009", "medgen:43790", "icd11.foundation:1382376000", "ICD10:H50.2", "ICD9:378.31", "HP:0025586"], "information_content": 95.4}
{"id": "MONDO:0007946", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "jaw-winking syndrome", "equivalent_identifiers": ["MONDO:0007946", "DOID:560", "OMIM:154600", "orphanet:91412", "UMLS:C0266521", "MESH:C535908", "MEDDRA:10000150", "MEDDRA:10064583", "SNOMEDCT:5127009", "medgen:120582", "icd11.foundation:590216180", "ICD10:Q07.8", "ICD9:374.43", "HP:0025186"], "information_content": 92.8}
{"id": "UniProtKB:Q9Y2S2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lambda-crystallin homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2S2-1", "PR:Q9Y2S2-1", "ENSEMBL:ENSP00000298248", "ENSEMBL:ENSP00000298248.7"], "information_content": 100.0}
{"id": "UniProtKB:Q14CZ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hepatic and glial cell adhesion molecule isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14CZ8-1", "PR:Q14CZ8-1", "ENSEMBL:ENSP00000298251", "ENSEMBL:ENSP00000298251.4"], "information_content": 100.0}
{"id": "NCBIGene:51585", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCF11", "equivalent_identifiers": ["NCBIGene:51585", "ENSEMBL:ENSG00000165494", "HGNC:30097", "OMIM:608876", "UMLS:C1826547", "UniProtKB:A0A8I5KX04", "ENSEMBL:ENSP00000508500", "ENSEMBL:ENSP00000508500.1", "UniProtKB:O94913", "PR:O94913", "ENSEMBL:ENSP00000298281", "ENSEMBL:ENSP00000298281.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96KN3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein PKNOX2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96KN3-1", "PR:Q96KN3-1", "ENSEMBL:ENSP00000298282", "ENSEMBL:ENSP00000298282.8"], "information_content": 100.0}
{"id": "NCBIGene:140801", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL10L", "equivalent_identifiers": ["NCBIGene:140801", "ENSEMBL:ENSG00000165496", "HGNC:17976", "OMIM:619655", "UMLS:C1425212", "UniProtKB:Q96L21", "PR:Q96L21", "ENSEMBL:ENSP00000298283", "ENSEMBL:ENSP00000298283.3", "UMLS:C1174507", "MESH:C471569"], "information_content": 100.0}
{"id": "UniProtKB:Q96L50-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96L50-1", "PR:Q96L50-1", "ENSEMBL:ENSP00000298288", "ENSEMBL:ENSP00000298288.6"], "information_content": 100.0}
{"id": "MONDO:0957203", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual developmental disorder, X-linked 111", "equivalent_identifiers": ["MONDO:0957203", "DOID:0060929", "OMIM:301107", "UMLS:C5829568", "medgen:1840204"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVR5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein kintoun isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVR5-1", "PR:Q9NVR5-1", "ENSEMBL:ENSP00000298292", "ENSEMBL:ENSP00000298292.8"], "information_content": 100.0}
{"id": "NCBIGene:11067", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEPP1", "equivalent_identifiers": ["NCBIGene:11067", "ENSEMBL:ENSG00000165507", "HGNC:23355", "OMIM:611309", "UMLS:C1428046", "UniProtKB:Q9NTK1", "PR:Q9NTK1", "ENSEMBL:ENSP00000298295", "ENSEMBL:ENSP00000298295.3", "UMLS:C1689827", "MESH:C506096"], "information_content": 100.0}
{"id": "UniProtKB:Q8TD91-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanoma-associated antigen C3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TD91-1", "PR:Q8TD91-1", "ENSEMBL:ENSP00000298296", "ENSEMBL:ENSP00000298296.1"], "information_content": 100.0}
{"id": "NCBIGene:7570", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF22", "equivalent_identifiers": ["NCBIGene:7570", "ENSEMBL:ENSG00000165512", "HGNC:13012", "OMIM:194529", "UMLS:C1421708", "UniProtKB:P17026", "PR:P17026", "ENSEMBL:ENSP00000298299", "ENSEMBL:ENSP00000298299.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2U9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch domain-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2U9-1", "PR:Q9Y2U9-1", "ENSEMBL:ENSP00000298307", "ENSEMBL:ENSP00000298307.5"], "information_content": 100.0}
{"id": "UniProtKB:O60524-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosome quality control complex subunit NEMF isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60524-1", "PR:O60524-1", "ENSEMBL:ENSP00000298310", "ENSEMBL:ENSP00000298310.5"], "information_content": 100.0}
{"id": "NCBIGene:382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARF6", "equivalent_identifiers": ["NCBIGene:382", "ENSEMBL:ENSG00000165527", "HGNC:659", "OMIM:600464", "UMLS:C1412511", "UniProtKB:P62330", "PR:P62330", "ENSEMBL:ENSP00000298316", "ENSEMBL:ENSP00000298316.5", "ENSEMBL:ENSP00000510419", "ENSEMBL:ENSP00000510419.1", "UMLS:C1742415", "MESH:C000715348"], "information_content": 92.8}
{"id": "UniProtKB:Q96CM3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pseudouridylate synthase RPUSD4, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CM3-1", "PR:Q96CM3-1", "ENSEMBL:ENSP00000298317", "ENSEMBL:ENSP00000298317.4"], "information_content": 100.0}
{"id": "NCBIGene:57156", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM63C", "equivalent_identifiers": ["NCBIGene:57156", "ENSEMBL:ENSG00000165548", "HGNC:23787", "OMIM:619953", "UMLS:C1823327", "UniProtKB:Q9P1W3", "PR:Q9P1W3", "ENSEMBL:ENSP00000298351", "ENSEMBL:ENSP00000298351.4", "UMLS:C5433730", "MESH:C000710817"], "information_content": 100.0}
{"id": "MONDO:0012900", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, familial restrictive, 3", "equivalent_identifiers": ["MONDO:0012900", "DOID:0111427", "OMIM:612422", "UMLS:C2676271", "MESH:C567316", "medgen:382807"], "information_content": 100.0}
{"id": "MONDO:0012306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, familial restrictive, 2", "equivalent_identifiers": ["MONDO:0012306", "DOID:0111426", "OMIM:609578", "UMLS:C1865071", "MESH:C566512", "medgen:400673"], "information_content": 100.0}
{"id": "NCBIGene:58157", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NGB", "equivalent_identifiers": ["NCBIGene:58157", "ENSEMBL:ENSG00000165553", "HGNC:14077", "OMIM:605304", "UMLS:C1422393", "UniProtKB:A0M8W9", "UMLS:C4742239", "MESH:C000627156", "UniProtKB:Q9NPG2", "PR:Q9NPG2", "ENSEMBL:ENSP00000298352", "ENSEMBL:ENSP00000298352.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9C026-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C026-1", "PR:Q9C026-1", "ENSEMBL:ENSP00000298355", "ENSEMBL:ENSP00000298355.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96JD6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1,5-anhydro-D-fructose reductase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JD6-1", "PR:Q96JD6-1", "ENSEMBL:ENSP00000298375", "ENSEMBL:ENSP00000298375.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXD0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "relaxin receptor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXD0-1", "PR:Q8WXD0-1", "ENSEMBL:ENSP00000298386", "ENSEMBL:ENSP00000298386.2"], "information_content": 100.0}
{"id": "MONDO:0004112", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radiation cystitis", "equivalent_identifiers": ["MONDO:0004112", "DOID:7127", "UMLS:C0156270", "MEDDRA:10011800", "MEDDRA:10022988", "MEDDRA:10090408", "NCIT:C123174", "SNOMEDCT:11251000", "medgen:510221", "ICD10:N30.4", "ICD9:595.82"], "information_content": 100.0}
{"id": "UniProtKB:Q99909-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SSX3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99909-1", "PR:Q99909-1", "ENSEMBL:ENSP00000298396", "ENSEMBL:ENSP00000298396.2"], "information_content": 100.0}
{"id": "NCBIGene:27199", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OXGR1", "equivalent_identifiers": ["NCBIGene:27199", "ENSEMBL:ENSG00000165621", "HGNC:4531", "OMIM:606922", "UMLS:C1538558", "UniProtKB:Q96P68", "PR:Q96P68", "ENSEMBL:ENSP00000298440", "ENSEMBL:ENSP00000298440.1", "ENSEMBL:ENSP00000437356", "ENSEMBL:ENSP00000437356.2", "ENSEMBL:ENSP00000438800", "ENSEMBL:ENSP00000438800.1", "ENSEMBL:ENSP00000445269", "ENSEMBL:ENSP00000445269.2"], "information_content": 95.4}
{"id": "NCBIGene:23172", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABRAXAS2", "equivalent_identifiers": ["NCBIGene:23172", "ENSEMBL:ENSG00000165660", "HGNC:28975", "OMIM:611144", "UMLS:C1970995", "UniProtKB:Q15018", "PR:Q15018", "ENSEMBL:ENSP00000298492", "ENSEMBL:ENSP00000298492.5", "UMLS:C3530125", "MESH:C577338"], "information_content": 92.8}
{"id": "UniProtKB:P30048-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin-dependent peroxide reductase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30048-1", "PR:P30048-1", "ENSEMBL:ENSP00000298510", "ENSEMBL:ENSP00000298510.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9P126-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 1 member B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P126-1", "PR:Q9P126-1", "ENSEMBL:ENSP00000298527", "ENSEMBL:ENSP00000298527.6"], "information_content": 100.0}
{"id": "NCBIGene:6621", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNAPC4", "equivalent_identifiers": ["NCBIGene:6621", "ENSEMBL:ENSG00000165684", "HGNC:11137", "OMIM:602777", "UMLS:C1420275", "UniProtKB:Q5SXM2", "PR:Q5SXM2", "ENSEMBL:ENSP00000298532", "ENSEMBL:ENSP00000298532.2", "ENSEMBL:ENSP00000490037", "ENSEMBL:ENSP00000490037.2", "ENSEMBL:ENSP00000510559", "ENSEMBL:ENSP00000510559.1", "UMLS:C1431622", "MESH:C116351"], "information_content": 100.0}
{"id": "MONDO:0032776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 99", "equivalent_identifiers": ["MONDO:0032776", "DOID:0111634", "OMIM:618481", "UMLS:C4760579", "medgen:1678930"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZUT3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FERM domain-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZUT3-1", "PR:Q6ZUT3-1", "ENSEMBL:ENSP00000298542", "ENSEMBL:ENSP00000298542.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96MA6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenylate kinase 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MA6-1", "PR:Q96MA6-1", "ENSEMBL:ENSP00000298545", "ENSEMBL:ENSP00000298545.3"], "information_content": 100.0}
{"id": "UniProtKB:Q92574-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hamartin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92574-1", "PR:Q92574-1", "ENSEMBL:ENSP00000298552", "ENSEMBL:ENSP00000298552.3", "ENSEMBL:ENSP00000495158", "ENSEMBL:ENSP00000495158.1", "ENSEMBL:ENSP00000495533", "ENSEMBL:ENSP00000495533.2", "ENSEMBL:ENSP00000495830", "ENSEMBL:ENSP00000495830.2", "ENSEMBL:ENSP00000496263", "ENSEMBL:ENSP00000496263.1"], "information_content": 100.0}
{"id": "MONDO:0024554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "D-2-hydroxyglutaric aciduria 1", "equivalent_identifiers": ["MONDO:0024554", "DOID:0111351", "OMIM:600721", "UMLS:C3152055", "medgen:463405"], "information_content": 100.0}
{"id": "NCBIGene:3251", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HPRT1", "equivalent_identifiers": ["NCBIGene:3251", "ENSEMBL:ENSG00000165704", "HGNC:5157", "OMIM:308000", "UMLS:C1415701", "UniProtKB:A0A140VJL3", "UniProtKB:P00492", "PR:P00492", "ENSEMBL:ENSP00000298556", "ENSEMBL:ENSP00000298556.7", "UMLS:C5441712"], "information_content": 88.2}
{"id": "UniProtKB:Q96A73-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative monooxygenase p33MONOX isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96A73-1", "PR:Q96A73-1", "ENSEMBL:ENSP00000298569", "ENSEMBL:ENSP00000298569.4", "ENSEMBL:ENSP00000421061", "ENSEMBL:ENSP00000421061.1"], "information_content": 100.0}
{"id": "MONDO:0001112", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bubonic plague", "equivalent_identifiers": ["MONDO:0001112", "DOID:10773", "UMLS:C0282312", "MEDDRA:10006520", "SNOMEDCT:50797007", "medgen:76407", "icd11.foundation:1742025109", "ICD10:A20.0", "ICD9:020.0"], "information_content": 100.0}
{"id": "UniProtKB:Q9BY84-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein phosphatase 16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY84-1", "PR:Q9BY84-1", "ENSEMBL:ENSP00000298573", "ENSEMBL:ENSP00000298573.5", "ENSEMBL:ENSP00000487512", "ENSEMBL:ENSP00000487512.1"], "information_content": 100.0}
{"id": "MONDO:0010983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 9", "equivalent_identifiers": ["MONDO:0010983", "DOID:0090044", "OMIM:601042", "orphanet:53583", "UMLS:C1832855", "MESH:C563401", "SNOMEDCT:715564000", "medgen:371427"], "information_content": 100.0}
{"id": "NCBIGene:116225", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZMYND19", "equivalent_identifiers": ["NCBIGene:116225", "ENSEMBL:ENSG00000165724", "HGNC:21146", "OMIM:611424", "UMLS:C1427361", "UniProtKB:Q96E35", "PR:Q96E35", "ENSEMBL:ENSP00000298585", "ENSEMBL:ENSP00000298585.2", "UMLS:C1610984", "MESH:C504021"], "information_content": 95.4}
{"id": "UniProtKB:Q6ZVD7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "storkhead-box protein 1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q6ZVD7-1", "PR:Q6ZVD7-1", "ENSEMBL:ENSP00000298596", "ENSEMBL:ENSP00000298596.6", "ENSEMBL:ENSP00000382121", "ENSEMBL:ENSP00000382121.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NP94-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc transporter ZIP2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP94-1", "PR:Q9NP94-1", "ENSEMBL:ENSP00000298681", "ENSEMBL:ENSP00000298681.4"], "information_content": 100.0}
{"id": "NCBIGene:84659", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNASE7", "equivalent_identifiers": ["NCBIGene:84659", "ENSEMBL:ENSG00000165799", "HGNC:19278", "OMIM:612484", "UMLS:C1426140", "UniProtKB:Q9H1E1", "PR:Q9H1E1", "ENSEMBL:ENSP00000298690", "ENSEMBL:ENSP00000298690.3", "ENSEMBL:ENSP00000431382", "ENSEMBL:ENSP00000431382.1", "UMLS:C1173178"], "information_content": 95.4}
{"id": "MONDO:0006552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "folliculitis", "equivalent_identifiers": ["MONDO:0006552", "DOID:4409", "EFO:1000702", "UMLS:C0016436", "MESH:D005499", "MEDDRA:10016936", "NCIT:C94408", "SNOMEDCT:13600006", "SNOMEDCT:721130001", "medgen:4752", "HP:0025084"], "information_content": 88.2}
{"id": "MONDO:0004592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "impetigo", "equivalent_identifiers": ["MONDO:0004592", "DOID:8504", "EFO:1000714", "UMLS:C0021099", "UMLS:C0376186", "MESH:D007169", "MEDDRA:10021531", "MEDDRA:10021535", "NCIT:C99088", "SNOMEDCT:48277006", "medgen:9440", "icd11.foundation:971176543", "ICD10:L01", "ICD10:L01.0", "ICD9:684"], "information_content": 92.8}
{"id": "NCBIGene:145376", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R36", "equivalent_identifiers": ["NCBIGene:145376", "ENSEMBL:ENSG00000165807", "HGNC:20097", "OMIM:619923", "UMLS:C3471438", "UniProtKB:Q96LQ0", "PR:Q96LQ0", "ENSEMBL:ENSP00000298705", "ENSEMBL:ENSP00000298705.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86U44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N(6)-adenosine-methyltransferase catalytic subunit METTL3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86U44-1", "PR:Q86U44-1", "ENSEMBL:ENSP00000298717", "ENSEMBL:ENSP00000298717.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5W0A0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate-rich protein 6B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5W0A0-1", "PR:Q5W0A0-1", "ENSEMBL:ENSP00000298738", "ENSEMBL:ENSP00000298738.2"], "information_content": 100.0}
{"id": "MONDO:0009155", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "EEM syndrome", "equivalent_identifiers": ["MONDO:0009155", "DOID:0111649", "OMIM:225280", "orphanet:1897", "UMLS:C1857041", "MESH:C536190", "SNOMEDCT:720856002", "medgen:341679"], "information_content": 100.0}
{"id": "MONDO:0008847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrichia with papular lesions", "equivalent_identifiers": ["MONDO:0008847", "DOID:0060689", "OMIM:209500", "orphanet:86819", "UMLS:C1859592", "MESH:C565924", "SNOMEDCT:715963002", "medgen:395299", "ICD10:L65.8"], "information_content": 100.0}
{"id": "MONDO:0012721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive myoclonic epilepsy type 3", "equivalent_identifiers": ["MONDO:0012721", "DOID:0111446", "OMIM:611726", "orphanet:263516", "UMLS:C2673257", "MESH:C567095", "SNOMEDCT:783064000", "medgen:388595", "icd11.foundation:383417276"], "information_content": 100.0}
{"id": "NCBIGene:2619", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GAS1", "equivalent_identifiers": ["NCBIGene:2619", "ENSEMBL:ENSG00000180447", "HGNC:4165", "OMIM:139185", "UMLS:C1414990", "UniProtKB:P54826", "PR:P54826", "ENSEMBL:ENSP00000298743", "ENSEMBL:ENSP00000298743.7", "UMLS:C1568604", "MESH:C096192"], "information_content": 100.0}
{"id": "NCBIGene:142940", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRUB1", "equivalent_identifiers": ["NCBIGene:142940", "ENSEMBL:ENSG00000165832", "HGNC:16060", "OMIM:610726", "UMLS:C1423945", "UniProtKB:Q8WWH5", "PR:Q8WWH5", "ENSEMBL:ENSP00000298746", "ENSEMBL:ENSP00000298746.3"], "information_content": 100.0}
{"id": "MONDO:0030958", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 35, childhood-onset", "equivalent_identifiers": ["MONDO:0030958", "DOID:0060955", "OMIM:619921", "UMLS:C5677003", "medgen:1801185"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z5K2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "wings apart-like protein homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5K2-1", "PR:Q7Z5K2-1", "ENSEMBL:ENSP00000298767", "ENSEMBL:ENSP00000298767.4"], "information_content": 100.0}
{"id": "UniProtKB:Q86V20-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "shieldin complex subunit 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86V20-2", "PR:Q86V20-2", "ENSEMBL:ENSP00000298786", "ENSEMBL:ENSP00000298786.3"], "information_content": 100.0}
{"id": "NCBIGene:143872", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGAP42", "equivalent_identifiers": ["NCBIGene:143872", "ENSEMBL:ENSG00000165895", "HGNC:26545", "OMIM:615936", "UMLS:C2828634", "UniProtKB:A6NI28", "PR:A6NI28", "ENSEMBL:ENSP00000298815", "ENSEMBL:ENSP00000298815.7", "UMLS:C3849792", "MESH:C000589232"], "information_content": 95.4}
{"id": "UniProtKB:Q6EMB2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin polyglutamylase TTLL5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6EMB2-1", "PR:Q6EMB2-1", "ENSEMBL:ENSP00000298832", "ENSEMBL:ENSP00000298832.9"], "information_content": 100.0}
{"id": "MONDO:0000913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spherocytosis type 2", "equivalent_identifiers": ["MONDO:0000913", "DOID:0110917", "OMIM:616649", "UMLS:C2674219", "medgen:436112"], "information_content": 100.0}
{"id": "MONDO:0008447", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spherocytosis type 1", "equivalent_identifiers": ["MONDO:0008447", "DOID:0110916", "OMIM:182900", "UMLS:C2674218", "MESH:C567159", "medgen:382302"], "information_content": 100.0}
{"id": "UniProtKB:Q13702-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "43 kDa receptor-associated protein of the synapse isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13702-1", "PR:Q13702-1", "ENSEMBL:ENSP00000298854", "ENSEMBL:ENSP00000298854.2"], "information_content": 100.0}
{"id": "NCBIGene:53981", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPSF2", "equivalent_identifiers": ["NCBIGene:53981", "ENSEMBL:ENSG00000165934", "HGNC:2325", "OMIM:606028", "UMLS:C1413685", "UniProtKB:Q9P2I0", "PR:Q9P2I0", "ENSEMBL:ENSP00000298875", "ENSEMBL:ENSP00000298875.4", "UMLS:C4276595", "MESH:C000609186"], "information_content": 87.2}
{"id": "NCBIGene:120892", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRK2", "equivalent_identifiers": ["NCBIGene:120892", "ENSEMBL:ENSG00000188906", "HGNC:18618", "OMIM:609007", "UMLS:C1425650", "UniProtKB:Q17RV3", "UniProtKB:Q5S007", "PR:Q5S007", "ENSEMBL:ENSP00000298910", "ENSEMBL:ENSP00000298910.7", "UMLS:C1531201", "MESH:C495280"], "information_content": 89.4}
{"id": "MONDO:0001516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy", "equivalent_identifiers": ["MONDO:0001516", "DOID:12377", "EFO:0008525", "UMLS:C0026847", "MESH:D009134", "MEDDRA:10041582", "MEDDRA:10041583", "MEDDRA:10051207", "NCIT:C85075", "SNOMEDCT:5262007", "medgen:7755", "icd11.foundation:71074342", "ICD10:G12.9", "ICD9:335.1", "HP:0007269"], "information_content": 72.2}
{"id": "MONDO:0014080", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteosclerotic metaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0014080", "DOID:0081111", "OMIM:615198", "orphanet:500548", "UMLS:C3554665", "SNOMEDCT:1237513008", "medgen:767579"], "information_content": 100.0}
{"id": "NCBIGene:79789", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLMN", "equivalent_identifiers": ["NCBIGene:79789", "ENSEMBL:ENSG00000165959", "HGNC:19972", "OMIM:611121", "UMLS:C1426573", "UniProtKB:Q6NUQ2", "UMLS:C1432273", "MESH:C435688", "UniProtKB:Q96JQ2", "PR:Q96JQ2", "ENSEMBL:ENSP00000298912", "ENSEMBL:ENSP00000298912.3"], "information_content": 95.4}
{"id": "NCBIGene:4745", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NELL1", "equivalent_identifiers": ["NCBIGene:4745", "ENSEMBL:ENSG00000165973", "HGNC:7750", "OMIM:602319", "UMLS:C1417676", "UniProtKB:B3KXR2", "UMLS:C1430642", "MESH:C104144", "UniProtKB:F5H6I3", "ENSEMBL:ENSP00000317837", "ENSEMBL:ENSP00000317837.5", "UniProtKB:J3KNC5", "ENSEMBL:ENSP00000298925", "ENSEMBL:ENSP00000298925.5", "UniProtKB:K9UUD5", "UniProtKB:Q92832", "PR:Q92832", "UMLS:C4288353"]}
{"id": "MONDO:0003134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proliferative glomerulonephritis", "equivalent_identifiers": ["MONDO:0003134", "DOID:4778", "UMLS:C0235618", "MEDDRA:10018376", "NCIT:C35281", "SNOMEDCT:441815006", "medgen:68617"], "information_content": 92.8}
{"id": "MONDO:0002461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "membranoproliferative glomerulonephritis", "equivalent_identifiers": ["MONDO:0002461", "DOID:2920", "UMLS:C0017662", "MESH:D015432", "MEDDRA:10018370", "MEDDRA:10027168", "MEDDRA:10027388", "NCIT:C34644", "SNOMEDCT:80321008", "medgen:9033", "HP:0000793"], "information_content": 90.9}
{"id": "UniProtKB:Q5VWW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complement C1q-like protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VWW1-1", "PR:Q5VWW1-1", "ENSEMBL:ENSP00000298943", "ENSEMBL:ENSP00000298943.3"], "information_content": 100.0}
{"id": "NCBIGene:56935", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMCO4", "equivalent_identifiers": ["NCBIGene:56935", "ENSEMBL:ENSG00000166002", "HGNC:24810", "OMIM:609477", "UMLS:C1824341", "UniProtKB:Q9NRQ5", "PR:Q9NRQ5", "ENSEMBL:ENSP00000298966", "ENSEMBL:ENSP00000298966.2", "ENSEMBL:ENSP00000431781", "ENSEMBL:ENSP00000431781.1", "ENSEMBL:ENSP00000433555", "ENSEMBL:ENSP00000433555.1", "ENSEMBL:ENSP00000479594", "ENSEMBL:ENSP00000479594.1"], "information_content": 100.0}
{"id": "MONDO:0003334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "demyelinating polyneuropathy", "equivalent_identifiers": ["MONDO:0003334", "DOID:5214", "UMLS:C0270922", "MEDDRA:10012304", "MEDDRA:10061811", "NCIT:C27062", "SNOMEDCT:23414001", "medgen:82859", "HP:0007108"], "information_content": 90.9}
{"id": "UniProtKB:Q7Z3Z4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "piwi-like protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3Z4-1", "PR:Q7Z3Z4-1", "ENSEMBL:ENSP00000299001", "ENSEMBL:ENSP00000299001.6"], "information_content": 100.0}
{"id": "NCBIGene:3990", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIPC", "equivalent_identifiers": ["NCBIGene:3990", "ENSEMBL:ENSG00000166035", "HGNC:6619", "OMIM:151670", "UMLS:C1416867", "UniProtKB:A6H8L5", "UniProtKB:P11150", "PR:P11150", "ENSEMBL:ENSP00000299022", "ENSEMBL:ENSP00000299022.5", "ENSEMBL:ENSP00000348425", "ENSEMBL:ENSP00000348425.6", "UMLS:C1453952", "MESH:C504173"], "information_content": 95.4}
{"id": "NCBIGene:161742", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPRED1", "equivalent_identifiers": ["NCBIGene:161742", "ENSEMBL:ENSG00000166068", "HGNC:20249", "OMIM:609291", "UMLS:C1426807", "UniProtKB:Q7Z699", "PR:Q7Z699", "ENSEMBL:ENSP00000299084", "ENSEMBL:ENSP00000299084.4", "UMLS:C1612235", "UMLS:C3537369", "MESH:C504812"], "information_content": 95.4}
{"id": "DOID:0070483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Watson syndrome", "equivalent_identifiers": ["DOID:0070483"]}
{"id": "UniProtKB:Q9H972-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C14orf93 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H972-1", "PR:Q9H972-1", "ENSEMBL:ENSP00000299088", "ENSEMBL:ENSP00000299088.6", "ENSEMBL:ENSP00000380535", "ENSEMBL:ENSP00000380535.3", "ENSEMBL:ENSP00000380538", "ENSEMBL:ENSP00000380538.4"], "information_content": 100.0}
{"id": "MONDO:0001274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anal spasm", "equivalent_identifiers": ["MONDO:0001274", "DOID:11374", "UMLS:C0152167", "MEDDRA:10002173", "SNOMEDCT:17440005", "medgen:508910", "icd11.foundation:647005938", "ICD10:K59.4", "ICD9:564.6"], "information_content": 95.4}
{"id": "MONDO:0000334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multinodular goiter", "equivalent_identifiers": ["MONDO:0000334", "DOID:0050489", "OMIM.PS:138800", "UMLS:C0342208", "MEDDRA:10075389", "MEDDRA:10075390", "NCIT:C131438", "SNOMEDCT:237570007", "medgen:87431", "HP:0005987"], "information_content": 90.9}
{"id": "UniProtKB:Q9BX67-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "junctional adhesion molecule C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BX67-1", "PR:Q9BX67-1", "ENSEMBL:ENSP00000299106", "ENSEMBL:ENSP00000299106.4"], "information_content": 100.0}
{"id": "NCBIGene:55737", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VPS35", "equivalent_identifiers": ["NCBIGene:55737", "ENSEMBL:ENSG00000069329", "HGNC:13487", "OMIM:601501", "UMLS:C1422017", "UniProtKB:Q96QK1", "PR:Q96QK1", "ENSEMBL:ENSP00000299138", "ENSEMBL:ENSP00000299138.7", "UMLS:C0963894", "UMLS:C3274849", "MESH:C419573"], "information_content": 84.8}
{"id": "NCBIGene:219938", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA19", "equivalent_identifiers": ["NCBIGene:219938", "ENSEMBL:ENSG00000166118", "HGNC:30614", "OMIM:609805", "UMLS:C1823090", "UniProtKB:A0A140VKB6", "UMLS:C1259634", "MESH:C475607", "UniProtKB:Q7Z5L4", "PR:Q7Z5L4", "ENSEMBL:ENSP00000299140", "ENSEMBL:ENSP00000299140.3", "ENSEMBL:ENSP00000435248", "ENSEMBL:ENSP00000435248.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXJ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein amnionless isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXJ7-1", "PR:Q9BXJ7-1", "ENSEMBL:ENSP00000299155", "ENSEMBL:ENSP00000299155.6"], "information_content": 100.0}
{"id": "MONDO:0009217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi-like syndrome", "equivalent_identifiers": ["MONDO:0009217", "DOID:0090066", "OMIM:227850", "UMLS:C0151638", "MESH:C536855", "MEDDRA:10016220", "MEDDRA:10042805", "SNOMEDCT:236469003", "medgen:56237"], "information_content": 95.4}
{"id": "UniProtKB:Q70UQ0-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inhibitor of nuclear factor kappa-B kinase-interacting protein isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q70UQ0-4", "PR:Q70UQ0-4", "ENSEMBL:ENSP00000299157", "ENSEMBL:ENSP00000299157.4"], "information_content": 100.0}
{"id": "MONDO:0016085", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cole-Carpenter syndrome", "equivalent_identifiers": ["MONDO:0016085", "DOID:0060438", "OMIM.PS:112240", "orphanet:2050", "UMLS:C1862178", "MESH:C535963", "NCIT:C130985", "SNOMEDCT:389199001", "medgen:350614", "icd11.foundation:1458793358"], "information_content": 92.8}
{"id": "UniProtKB:Q96NZ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein N4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NZ1-1", "PR:Q96NZ1-1", "ENSEMBL:ENSP00000299162", "ENSEMBL:ENSP00000299162.5"], "information_content": 100.0}
{"id": "NCBIGene:55662", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HIF1AN", "equivalent_identifiers": ["NCBIGene:55662", "ENSEMBL:ENSG00000166135", "HGNC:17113", "OMIM:606615", "UMLS:C1424751", "UniProtKB:Q9NWT6", "PR:Q9NWT6", "ENSEMBL:ENSP00000299163", "ENSEMBL:ENSP00000299163.4", "UMLS:C1099200", "MESH:C439790"], "information_content": 88.2}
{"id": "NCBIGene:170689", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAMTS15", "equivalent_identifiers": ["NCBIGene:170689", "ENSEMBL:ENSG00000166106", "HGNC:16305", "OMIM:607509", "UMLS:C1424173", "UniProtKB:Q8TE58", "PR:Q8TE58", "ENSEMBL:ENSP00000299164", "ENSEMBL:ENSP00000299164.2", "UMLS:C1568791", "MESH:C500267"], "information_content": 89.4}
{"id": "UniProtKB:O95169-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95169-1", "PR:O95169-1", "ENSEMBL:ENSP00000299166", "ENSEMBL:ENSP00000299166.4", "ENSEMBL:ENSP00000520734", "ENSEMBL:ENSP00000520734.1"], "information_content": 100.0}
{"id": "MONDO:0014261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome", "equivalent_identifiers": ["MONDO:0014261", "DOID:0111484", "OMIM:615578", "orphanet:391348", "UMLS:C3810001", "medgen:816331"], "information_content": 100.0}
{"id": "NCBIGene:552", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AVPR1A", "equivalent_identifiers": ["NCBIGene:552", "ENSEMBL:ENSG00000166148", "HGNC:895", "OMIM:600821", "UMLS:C1332122", "UniProtKB:P37288", "PR:P37288", "ENSEMBL:ENSP00000299178", "ENSEMBL:ENSP00000299178.3", "UMLS:C4041725", "MESH:C000599871", "UniProtKB:X5D2B0"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z4Q2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HEAT repeat-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4Q2-1", "PR:Q7Z4Q2-1", "ENSEMBL:ENSP00000299192", "ENSEMBL:ENSP00000299192.7"], "information_content": 100.0}
{"id": "MONDO:0002129", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone cancer", "equivalent_identifiers": ["MONDO:0002129", "DOID:184", "EFO:1000350", "UMLS:C0279530", "MESH:D001859", "MEDDRA:10005949", "MEDDRA:10005950", "MEDDRA:10053650", "NCIT:C4016", "SNOMEDCT:428281000", "medgen:79002"], "information_content": 63.1}
{"id": "NCBIGene:1152", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CKB", "equivalent_identifiers": ["NCBIGene:1152", "ENSEMBL:ENSG00000166165", "HGNC:1991", "OMIM:123280", "UMLS:C1332763", "UniProtKB:A0A0S2Z471", "ENSEMBL:ENSP00000508488", "ENSEMBL:ENSP00000508488.1", "UniProtKB:P12277", "PR:P12277", "ENSEMBL:ENSP00000299198", "ENSEMBL:ENSP00000299198.2", "UMLS:C3714613", "UniProtKB:V9HWH2"], "information_content": 92.8}
{"id": "MONDO:0000456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral creatine deficiency syndrome", "equivalent_identifiers": ["MONDO:0000456", "DOID:0050798", "OMIM.PS:300352", "orphanet:79172", "UMLS:C5244016", "MEDDRA:10084104", "medgen:1826001"], "information_content": 90.9}
{"id": "UniProtKB:Q9BRS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "La-related protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRS8-1", "PR:Q9BRS8-1", "ENSEMBL:ENSP00000299213", "ENSEMBL:ENSP00000299213.7"], "information_content": 100.0}
{"id": "NCBIGene:79803", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HPS6", "equivalent_identifiers": ["NCBIGene:79803", "ENSEMBL:ENSG00000166189", "HGNC:18817", "OMIM:607522", "UMLS:C1425796", "UniProtKB:Q86YV9", "PR:Q86YV9", "ENSEMBL:ENSP00000299238", "ENSEMBL:ENSP00000299238.5", "UMLS:C1529878", "MESH:C493901"], "information_content": 95.4}
{"id": "UniProtKB:Q9H9P2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chondrolectin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9P2-1", "PR:Q9H9P2-1", "ENSEMBL:ENSP00000299295", "ENSEMBL:ENSP00000299295.2"], "information_content": 100.0}
{"id": "NCBIGene:5092", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCBD1", "equivalent_identifiers": ["NCBIGene:5092", "ENSEMBL:ENSG00000166228", "HGNC:8646", "OMIM:126090", "UMLS:C1418296", "UniProtKB:P61457", "PR:P61457", "ENSEMBL:ENSP00000299299", "ENSEMBL:ENSP00000299299.3", "UMLS:C1622459"], "information_content": 92.8}
{"id": "UniProtKB:P78371-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-complex protein 1 subunit beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P78371-1", "PR:P78371-1", "ENSEMBL:ENSP00000299300", "ENSEMBL:ENSP00000299300.6"], "information_content": 100.0}
{"id": "UniProtKB:Q14DG7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 132B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14DG7-1", "PR:Q14DG7-1", "ENSEMBL:ENSP00000299308", "ENSEMBL:ENSP00000299308.3"], "information_content": 100.0}
{"id": "UniProtKB:Q3T906-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3T906-1", "PR:Q3T906-1", "ENSEMBL:ENSP00000299314", "ENSEMBL:ENSP00000299314.7"], "information_content": 100.0}
{"id": "MONDO:0001522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyromania", "equivalent_identifiers": ["MONDO:0001522", "DOID:12402", "UMLS:C0016142", "MESH:D005391", "MEDDRA:10037674", "MEDDRA:10040440", "NCIT:C94334", "SNOMEDCT:248015004", "SNOMEDCT:600009", "medgen:42028", "icd11.foundation:1532500290", "ICD10:F63.1", "ICD9:312.33", "HP:5200338"], "information_content": 100.0}
{"id": "MONDO:0002330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alcoholic psychosis", "equivalent_identifiers": ["MONDO:0002330", "DOID:252", "EFO:1001260", "UMLS:C0033936", "MESH:D011604", "MEDDRA:10001632", "MEDDRA:10001634", "MEDDRA:10037236", "MEDDRA:10045621", "SNOMEDCT:1231846001", "SNOMEDCT:42344001", "medgen:11009", "ICD9:291.9"], "information_content": 100.0}
{"id": "MONDO:0002843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fungal gastritis", "equivalent_identifiers": ["MONDO:0002843", "DOID:4034", "UMLS:C0948638", "MEDDRA:10051351", "MEDDRA:10061972", "NCIT:C27342", "SNOMEDCT:723097009", "medgen:181761"], "information_content": 100.0}
{"id": "MONDO:0001520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kleptomania", "equivalent_identifiers": ["MONDO:0001520", "DOID:12400", "UMLS:C0022734", "MEDDRA:10023461", "NCIT:C94333", "SNOMEDCT:69361009", "medgen:5974", "icd11.foundation:804604349", "ICD10:F63.2", "ICD9:312.32", "HP:5200337"], "information_content": 100.0}
{"id": "NCBIGene:146562", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAAF8", "equivalent_identifiers": ["NCBIGene:146562", "ENSEMBL:ENSG00000166246", "HGNC:25081", "UMLS:C1824424", "UniProtKB:Q8IYS4", "PR:Q8IYS4", "ENSEMBL:ENSP00000299320", "ENSEMBL:ENSP00000299320.4"], "information_content": 95.4}
{"id": "MONDO:0020291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoplastic right heart syndrome", "equivalent_identifiers": ["MONDO:0020291", "DOID:0070315", "orphanet:98723", "UMLS:C0265856", "UMLS:C0344963", "MEDDRA:10050053", "MEDDRA:10064962", "NCIT:C99053", "SNOMEDCT:268180007", "SNOMEDCT:39589002", "medgen:83376", "ICD10:Q22.6", "HP:0010954"], "information_content": 90.9}
{"id": "UniProtKB:Q9Y6N1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome c oxidase assembly protein COX11, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6N1-1", "PR:Q9Y6N1-1", "ENSEMBL:ENSP00000299335", "ENSEMBL:ENSP00000299335.3", "ENSEMBL:ENSP00000459901", "ENSEMBL:ENSP00000459901.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96M60-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM227B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96M60-1", "PR:Q96M60-1", "ENSEMBL:ENSP00000299338", "ENSEMBL:ENSP00000299338.6"], "information_content": 100.0}
{"id": "UniProtKB:P78369-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "claudin-10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78369-1", "PR:P78369-1", "ENSEMBL:ENSP00000299339", "ENSEMBL:ENSP00000299339.2"], "information_content": 100.0}
{"id": "UniProtKB:P06681-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complement C2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P06681-1", "PR:P06681-1", "ENSEMBL:ENSP00000299367", "ENSEMBL:ENSP00000299367.5", "ENSEMBL:ENSP00000364660", "ENSEMBL:ENSP00000364660.4", "ENSEMBL:ENSP00000372853", "ENSEMBL:ENSP00000372853.4", "ENSEMBL:ENSP00000392835", "ENSEMBL:ENSP00000392835.2", "ENSEMBL:ENSP00000402278", "ENSEMBL:ENSP00000402278.2", "ENSEMBL:ENSP00000405800", "ENSEMBL:ENSP00000405800.2", "ENSEMBL:ENSP00000407961", "ENSEMBL:ENSP00000407961.2"], "information_content": 100.0}
{"id": "NCBIGene:54765", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM44", "equivalent_identifiers": ["NCBIGene:54765", "ENSEMBL:ENSG00000166326", "HGNC:19016", "OMIM:612298", "UMLS:C1425953", "UniProtKB:Q96DX7", "PR:Q96DX7", "ENSEMBL:ENSP00000299413", "ENSEMBL:ENSP00000299413.5", "UMLS:C2715866", "MESH:C540677"], "information_content": 95.4}
{"id": "NCBIGene:6881", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAF10", "equivalent_identifiers": ["NCBIGene:6881", "ENSEMBL:ENSG00000166337", "HGNC:11543", "OMIM:600475", "UMLS:C1336560", "UniProtKB:Q12962", "PR:Q12962", "ENSEMBL:ENSP00000299424", "ENSEMBL:ENSP00000299424.4", "UMLS:C0289408", "MESH:C089768"], "information_content": 92.8}
{"id": "UniProtKB:O14773-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripeptidyl-peptidase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14773-1", "PR:O14773-1", "ENSEMBL:ENSP00000299427", "ENSEMBL:ENSP00000299427.6"], "information_content": 100.0}
{"id": "UniProtKB:Q4VC12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative protein MSS51 homolog, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4VC12-1", "PR:Q4VC12-1", "ENSEMBL:ENSP00000299432", "ENSEMBL:ENSP00000299432.2", "ENSEMBL:ENSP00000362003", "ENSEMBL:ENSP00000362003.1"], "information_content": 100.0}
{"id": "UniProtKB:P15918-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V(D)J recombination-activating protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P15918-1", "PR:P15918-1", "ENSEMBL:ENSP00000299440", "ENSEMBL:ENSP00000299440.5", "ENSEMBL:ENSP00000513411", "ENSEMBL:ENSP00000513411.1", "ENSEMBL:ENSP00000513412", "ENSEMBL:ENSP00000513412.1", "ENSEMBL:ENSP00000513413", "ENSEMBL:ENSP00000513413.1"], "information_content": 100.0}
{"id": "NCBIGene:8642", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCHS1", "equivalent_identifiers": ["NCBIGene:8642", "ENSEMBL:ENSG00000166341", "HGNC:13681", "OMIM:603057", "UMLS:C1539223", "UniProtKB:Q96JQ0", "PR:Q96JQ0", "ENSEMBL:ENSP00000299441", "ENSEMBL:ENSP00000299441.3", "UMLS:C1310306", "MESH:C442479"], "information_content": 92.8}
{"id": "UniProtKB:Q86YR6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POTED_HUMAN POTE ankyrin domain family member D (sprot)", "equivalent_identifiers": ["UniProtKB:Q86YR6", "PR:Q86YR6", "ENSEMBL:ENSP00000299443", "ENSEMBL:ENSP00000299443.5"], "information_content": 100.0}
{"id": "NCBIGene:144124", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10A5", "equivalent_identifiers": ["NCBIGene:144124", "ENSEMBL:ENSG00000166363", "HGNC:15131", "OMIM:608493", "UMLS:C1423227", "UniProtKB:A0A126GWR0", "UniProtKB:Q9H207", "PR:Q9H207", "ENSEMBL:ENSP00000299454", "ENSEMBL:ENSP00000299454.4"], "information_content": 100.0}
{"id": "NCBIGene:338323", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NLRP14", "equivalent_identifiers": ["NCBIGene:338323", "ENSEMBL:ENSG00000158077", "HGNC:22939", "OMIM:609665", "UMLS:C1427794", "UniProtKB:Q86W24", "PR:Q86W24", "ENSEMBL:ENSP00000299481", "ENSEMBL:ENSP00000299481.5", "UMLS:C1956744", "MESH:C519485"], "information_content": 95.4}
{"id": "UniProtKB:Q8ND30-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "liprin-beta-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8ND30-1", "PR:Q8ND30-1", "ENSEMBL:ENSP00000299492", "ENSEMBL:ENSP00000299492.4"], "information_content": 100.0}
{"id": "MONDO:0019087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholangiocarcinoma", "equivalent_identifiers": ["MONDO:0019087", "DOID:4947", "orphanet:70567", "EFO:0005221", "UMLS:C0206698", "UMLS:C0280725", "MESH:D018281", "MEDDRA:10008593", "MEDDRA:10008595", "MEDDRA:10077861", "NCIT:C4436", "NCIT:C8265", "SNOMEDCT:312104005", "SNOMEDCT:70179006", "medgen:60210", "icd11.foundation:2110597275", "HP:0030153"], "information_content": 70.3}
{"id": "NCBIGene:9710", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GARRE1", "equivalent_identifiers": ["NCBIGene:9710", "ENSEMBL:ENSG00000166398", "HGNC:29016", "OMIM:619335", "UMLS:C5241141", "UniProtKB:O15063", "PR:O15063", "ENSEMBL:ENSP00000299505", "ENSEMBL:ENSP00000299505.4"], "information_content": 100.0}
{"id": "UniProtKB:P50213-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50213-1", "PR:P50213-1", "ENSEMBL:ENSP00000299518", "ENSEMBL:ENSP00000299518.2"], "information_content": 100.0}
{"id": "NCBIGene:1381", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRABP1", "equivalent_identifiers": ["NCBIGene:1381", "ENSEMBL:ENSG00000166426", "HGNC:2338", "OMIM:180230", "UMLS:C1413697", "UniProtKB:F1T0F7", "UniProtKB:P29762", "PR:P29762", "ENSEMBL:ENSP00000299529", "ENSEMBL:ENSP00000299529.6", "UMLS:C2003237"], "information_content": 92.8}
{"id": "NCBIGene:254225", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF169", "equivalent_identifiers": ["NCBIGene:254225", "ENSEMBL:ENSG00000166439", "HGNC:26961", "OMIM:618650", "UMLS:C1826839", "UniProtKB:Q8NCN4", "PR:Q8NCN4", "ENSEMBL:ENSP00000299563", "ENSEMBL:ENSP00000299563.4", "UMLS:C3492560", "MESH:C572547"], "information_content": 90.9}
{"id": "NCBIGene:1138", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHRNA5", "equivalent_identifiers": ["NCBIGene:1138", "ENSEMBL:ENSG00000169684", "HGNC:1959", "OMIM:118505", "UMLS:C1413405", "UniProtKB:H0YM98", "ENSEMBL:ENSP00000453519", "ENSEMBL:ENSP00000453519.1", "UniProtKB:P30532", "PR:P30532", "ENSEMBL:ENSP00000299565", "ENSEMBL:ENSP00000299565.5", "UMLS:C1120381", "MESH:C447158", "UniProtKB:Q6EWN4"], "information_content": 95.4}
{"id": "UniProtKB:O43313-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATM interactor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43313-1", "PR:O43313-1", "ENSEMBL:ENSP00000299575", "ENSEMBL:ENSP00000299575.3", "ENSEMBL:ENSP00000517627", "ENSEMBL:ENSP00000517627.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WVC0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA polymerase-associated protein LEO1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVC0-1", "PR:Q8WVC0-1", "ENSEMBL:ENSP00000299601", "ENSEMBL:ENSP00000299601.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96JJ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein disulfide-isomerase TMX3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JJ7-1", "PR:Q96JJ7-1", "ENSEMBL:ENSP00000299608", "ENSEMBL:ENSP00000299608.2"], "information_content": 100.0}
{"id": "MONDO:0014236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, musculocontractural type 2", "equivalent_identifiers": ["MONDO:0014236", "DOID:0080735", "DOID:0080737", "OMIM:615539", "UMLS:C3809845", "medgen:816175"], "information_content": 100.0}
{"id": "UniProtKB:Q9BVK2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVK2-1", "PR:Q9BVK2-1", "ENSEMBL:ENSP00000299626", "ENSEMBL:ENSP00000299626.5"], "information_content": 100.0}
{"id": "UniProtKB:P0CAP2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed RNA polymerase II subunit GRINL1A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P0CAP2-1", "PR:P0CAP2-1", "ENSEMBL:ENSP00000299638", "ENSEMBL:ENSP00000299638.3"], "information_content": 100.0}
{"id": "NCBIGene:26253", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLEC4E", "equivalent_identifiers": ["NCBIGene:26253", "ENSEMBL:ENSG00000166523", "HGNC:14555", "OMIM:609962", "UMLS:C1539096", "UniProtKB:F5H5X7", "ENSEMBL:ENSP00000443034", "ENSEMBL:ENSP00000443034.1", "UniProtKB:Q9ULY5", "PR:Q9ULY5", "ENSEMBL:ENSP00000299663", "ENSEMBL:ENSP00000299663.3"], "information_content": 100.0}
{"id": "NCBIGene:338339", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLEC4D", "equivalent_identifiers": ["NCBIGene:338339", "ENSEMBL:ENSG00000166527", "HGNC:14554", "OMIM:609964", "UMLS:C1539095", "UniProtKB:Q8WXI8", "PR:Q8WXI8", "ENSEMBL:ENSP00000299665", "ENSEMBL:ENSP00000299665.2", "UMLS:C1435762", "MESH:C482593"], "information_content": 84.2}
{"id": "UniProtKB:Q9C0G0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 407 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0G0-1", "PR:Q9C0G0-1", "ENSEMBL:ENSP00000299687", "ENSEMBL:ENSP00000299687.4"], "information_content": 100.0}
{"id": "UniProtKB:A0A7P0MLU2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A7P0MLU2_HUMAN Thymidine kinase 2, mitochondrial (trembl)", "equivalent_identifiers": ["UniProtKB:A0A7P0MLU2", "ENSEMBL:ENSP00000299697", "ENSEMBL:ENSP00000299697.9"]}
{"id": "UniProtKB:A8K2U0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-2-macroglobulin-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A8K2U0-1", "PR:A8K2U0-1", "ENSEMBL:ENSP00000299698", "ENSEMBL:ENSP00000299698.7"], "information_content": 100.0}
{"id": "MONDO:0006545", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythema multiforme", "equivalent_identifiers": ["MONDO:0006545", "DOID:0050185", "EFO:1000694", "UMLS:C0014742", "MESH:D004892", "MEDDRA:10015218", "MEDDRA:10057783", "MEDDRA:10057866", "MEDDRA:10087609", "NCIT:C3024", "SNOMEDCT:36715001", "medgen:4527", "icd11.foundation:364669853"], "information_content": 92.8}
{"id": "MONDO:0019082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pemphigoid", "equivalent_identifiers": ["MONDO:0019082", "DOID:8506", "orphanet:703", "EFO:0007187", "UMLS:C0030805", "MESH:D010391", "MEDDRA:10006567", "MEDDRA:10006568", "MEDDRA:10034277", "NCIT:C34908", "NCIT:C84389", "SNOMEDCT:77090002", "medgen:10620", "icd11.foundation:233308710", "ICD10:L12.0", "ICD9:694.5"], "information_content": 89.4}
{"id": "MONDO:0015265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchiolitis obliterans syndrome", "equivalent_identifiers": ["MONDO:0015265", "DOID:2799", "orphanet:1303", "EFO:0007183", "UMLS:C0006272", "UMLS:C2350875", "MESH:D001989", "MEDDRA:10029888", "MEDDRA:10049202", "NCIT:C62580", "SNOMEDCT:40100001", "medgen:665", "icd11.foundation:592711730", "HP:0011946"], "information_content": 92.8}
{"id": "MONDO:0006614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subcorneal pustular dermatosis", "equivalent_identifiers": ["MONDO:0006614", "DOID:8508", "orphanet:48377", "EFO:1000771", "UMLS:C0600336", "MEDDRA:10042342", "MEDDRA:10059409", "SNOMEDCT:25147002", "medgen:108687", "icd11.foundation:1952122675", "ICD10:L13.1", "ICD9:694.1"], "information_content": 100.0}
{"id": "MONDO:0006558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pemphigoid gestationis", "equivalent_identifiers": ["MONDO:0006558", "DOID:0040098", "DOID:14482", "orphanet:63275", "EFO:1000709", "UMLS:C0019343", "MESH:D006559", "MEDDRA:10019939", "MEDDRA:10052801", "NCIT:C85003", "SNOMEDCT:86081009", "medgen:9233", "icd11.foundation:1405755890", "ICD10:O26.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3Q3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane emp24 domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3Q3-1", "PR:Q9Y3Q3-1", "ENSEMBL:ENSP00000299705", "ENSEMBL:ENSP00000299705.5"], "information_content": 100.0}
{"id": "NCBIGene:146167", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC38A8", "equivalent_identifiers": ["NCBIGene:146167", "ENSEMBL:ENSG00000166558", "HGNC:32434", "OMIM:615585", "UMLS:C2239931", "UniProtKB:A6NNN8", "PR:A6NNN8", "ENSEMBL:ENSP00000299709", "ENSEMBL:ENSP00000299709.3"], "information_content": 100.0}
{"id": "MONDO:0010371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Aland island eye disease", "equivalent_identifiers": ["MONDO:0010371", "DOID:0050630", "OMIM:300600", "orphanet:178333", "UMLS:C0268505", "MESH:C562664", "SNOMEDCT:266455006", "medgen:120643"], "information_content": 100.0}
{"id": "NCBIGene:2587", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GALR1", "equivalent_identifiers": ["NCBIGene:2587", "ENSEMBL:ENSG00000166573", "HGNC:4132", "OMIM:600377", "UMLS:C1414960", "UniProtKB:P47211", "PR:P47211", "ENSEMBL:ENSP00000299727", "ENSEMBL:ENSP00000299727.3"], "information_content": 100.0}
{"id": "MONDO:0044329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta, type 18", "equivalent_identifiers": ["MONDO:0044329", "DOID:0111848", "OMIM:617952", "UMLS:C4693736", "medgen:1635201"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z7K6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centromere protein V isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z7K6-3", "PR:Q7Z7K6-3", "ENSEMBL:ENSP00000299736", "ENSEMBL:ENSP00000299736.4"], "information_content": 100.0}
{"id": "UniProtKB:O75309-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75309-1", "PR:O75309-1", "ENSEMBL:ENSP00000299752", "ENSEMBL:ENSP00000299752.4"], "information_content": 100.0}
{"id": "NCBIGene:4160", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MC4R", "equivalent_identifiers": ["NCBIGene:4160", "ENSEMBL:ENSG00000166603", "HGNC:6932", "OMIM:155541", "UMLS:C1417064", "UniProtKB:P32245", "PR:P32245", "ENSEMBL:ENSP00000299766", "ENSEMBL:ENSP00000299766.3", "UMLS:C0527721", "MESH:C470072"], "information_content": 95.4}
{"id": "MONDO:0017194", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Blount disease", "equivalent_identifiers": ["MONDO:0017194", "DOID:14798", "orphanet:2768", "UMLS:C0175756", "MESH:C536237", "MEDDRA:10072255", "MEDDRA:10072257", "NCIT:C118460", "SNOMEDCT:1344797002", "SNOMEDCT:79353000", "medgen:104499", "icd11.foundation:138830223"], "information_content": 92.8}
{"id": "NCBIGene:7184", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSP90B1", "equivalent_identifiers": ["NCBIGene:7184", "ENSEMBL:ENSG00000166598", "HGNC:12028", "OMIM:191175", "UMLS:C1825546", "UniProtKB:P14625", "PR:P14625", "ENSEMBL:ENSP00000299767", "ENSEMBL:ENSP00000299767.4", "UMLS:C1609942", "UniProtKB:V9HWP2"], "information_content": 84.2}
{"id": "NCBIGene:6553", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC9A5", "equivalent_identifiers": ["NCBIGene:6553", "ENSEMBL:ENSG00000135740", "HGNC:11078", "OMIM:600477", "UMLS:C1420239", "UniProtKB:Q14940", "PR:Q14940", "ENSEMBL:ENSP00000299798", "ENSEMBL:ENSP00000299798.11", "UMLS:C1570645"], "information_content": 100.0}
{"id": "UniProtKB:Q6IBW4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "condensin-2 complex subunit H2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q6IBW4-4", "PR:Q6IBW4-4", "ENSEMBL:ENSP00000299821", "ENSEMBL:ENSP00000299821.11"], "information_content": 100.0}
{"id": "NCBIGene:89832", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHRFAM7A", "equivalent_identifiers": ["NCBIGene:89832", "ENSEMBL:ENSG00000166664", "HGNC:15781", "OMIM:609756", "UMLS:C1423729", "UniProtKB:A0A0A6YYA8", "ENSEMBL:ENSP00000380927", "ENSEMBL:ENSP00000380927.3", "ENSEMBL:ENSP00000385389", "ENSEMBL:ENSP00000385389.3", "UMLS:C3713833", "UniProtKB:Q494W8", "PR:Q494W8", "ENSEMBL:ENSP00000299847", "ENSEMBL:ENSP00000299847.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVU0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed RNA polymerase III subunit RPC5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVU0-1", "PR:Q9NVU0-1", "ENSEMBL:ENSP00000299853", "ENSEMBL:ENSP00000299853.5", "ENSEMBL:ENSP00000492263", "ENSEMBL:ENSP00000492263.1", "ENSEMBL:ENSP00000492514", "ENSEMBL:ENSP00000492514.2"], "information_content": 100.0}
{"id": "NCBIGene:4314", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP3", "equivalent_identifiers": ["NCBIGene:4314", "ENSEMBL:ENSG00000149968", "HGNC:7173", "OMIM:185250", "UMLS:C1366358", "UniProtKB:P08254", "PR:P08254", "ENSEMBL:ENSP00000299855", "ENSEMBL:ENSP00000299855.5", "UMLS:C1723257", "MESH:C511768"], "information_content": 86.3}
{"id": "UniProtKB:A6NH52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi apparatus membrane protein TVP23 homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NH52-1", "PR:A6NH52-1", "ENSEMBL:ENSP00000299866", "ENSEMBL:ENSP00000299866.8", "ENSEMBL:ENSP00000460567", "ENSEMBL:ENSP00000460567.1"], "information_content": 100.0}
{"id": "NCBIGene:80975", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMPRSS5", "equivalent_identifiers": ["NCBIGene:80975", "ENSEMBL:ENSG00000166682", "HGNC:14908", "OMIM:606751", "UMLS:C1423044", "UniProtKB:B7Z247", "UMLS:C1448288", "MESH:C450831", "UniProtKB:F5GX83", "ENSEMBL:ENSP00000441104", "ENSEMBL:ENSP00000441104.1", "UniProtKB:F5GYA3", "ENSEMBL:ENSP00000440783", "ENSEMBL:ENSP00000440783.1", "UniProtKB:F5H0U3", "ENSEMBL:ENSP00000445930", "ENSEMBL:ENSP00000445930.1", "UniProtKB:F5H2M3", "ENSEMBL:ENSP00000445528", "ENSEMBL:ENSP00000445528.1", "UniProtKB:Q0P513", "UniProtKB:Q0P514", "UniProtKB:Q9H3S3", "PR:Q9H3S3", "ENSEMBL:ENSP00000299882", "ENSEMBL:ENSP00000299882.5"], "information_content": 92.8}
{"id": "MONDO:0010549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease X-linked dominant 1", "equivalent_identifiers": ["MONDO:0010549", "DOID:0110209", "OMIM:302800", "orphanet:101075", "UMLS:C0393808", "MESH:C535919", "NCIT:C129068", "SNOMEDCT:763455008", "medgen:98290"], "information_content": 100.0}
{"id": "MONDO:0011113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4C", "equivalent_identifiers": ["MONDO:0011113", "DOID:0110183", "OMIM:601596", "orphanet:99949", "UMLS:C1866636", "MESH:C535423", "NCIT:C129864", "SNOMEDCT:715797002", "medgen:356581", "icd11.foundation:382219984"], "information_content": 100.0}
{"id": "MONDO:0011894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2E", "equivalent_identifiers": ["MONDO:0011894", "DOID:0110165", "OMIM:607684", "orphanet:99939", "UMLS:C1843225", "MESH:C537994", "NCIT:C134953", "SNOMEDCT:717012004", "medgen:375127", "icd11.foundation:1476045360"], "information_content": 100.0}
{"id": "MONDO:0007311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 1E", "equivalent_identifiers": ["MONDO:0007311", "DOID:0110153", "OMIM:118300", "orphanet:90658", "UMLS:C2931686", "UMLS:C3495591", "MESH:C537986", "MESH:C566136", "medgen:501212", "icd11.foundation:1924906594"], "information_content": 100.0}
{"id": "NCBIGene:9382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COG1", "equivalent_identifiers": ["NCBIGene:9382", "ENSEMBL:ENSG00000166685", "HGNC:6545", "OMIM:606973", "UMLS:C1416821", "UniProtKB:Q8WTW3", "PR:Q8WTW3", "ENSEMBL:ENSP00000299886", "ENSEMBL:ENSP00000299886.4", "UMLS:C1435295", "MESH:C486489"], "information_content": 92.8}
{"id": "UniProtKB:Q96A59-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MARVEL domain-containing protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96A59-2", "PR:Q96A59-2", "ENSEMBL:ENSP00000299952", "ENSEMBL:ENSP00000299952.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6P4E1-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein GOLM2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q6P4E1-4", "PR:Q6P4E1-4", "ENSEMBL:ENSP00000299957", "ENSEMBL:ENSP00000299957.6"], "information_content": 100.0}
{"id": "UniProtKB:Q96MC5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bMERB domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MC5-1", "PR:Q96MC5-1", "ENSEMBL:ENSP00000300006", "ENSEMBL:ENSP00000300006.4", "ENSEMBL:ENSP00000483858", "ENSEMBL:ENSP00000483858.1"], "information_content": 100.0}
{"id": "NCBIGene:5479", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPIB", "equivalent_identifiers": ["NCBIGene:5479", "ENSEMBL:ENSG00000166794", "HGNC:9255", "OMIM:123841", "UMLS:C1418795", "UniProtKB:P23284", "PR:P23284", "ENSEMBL:ENSP00000300026", "ENSEMBL:ENSP00000300026.4", "UMLS:C1567679"], "information_content": 84.2}
{"id": "UniProtKB:Q9H5X1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic iron-sulfur assembly component 2A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H5X1-1", "PR:Q9H5X1-1", "ENSEMBL:ENSP00000300030", "ENSEMBL:ENSP00000300030.3"], "information_content": 100.0}
{"id": "MONDO:0014062", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA deletion syndrome with progressive myopathy", "equivalent_identifiers": ["MONDO:0014062", "DOID:0111519", "OMIM:615156", "orphanet:352470", "UMLS:C3554599", "medgen:767513"], "information_content": 100.0}
{"id": "UniProtKB:Q15004-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PCNA-associated factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15004-1", "PR:Q15004-1", "ENSEMBL:ENSP00000300035", "ENSEMBL:ENSP00000300035.4"], "information_content": 100.0}
{"id": "UniProtKB:Q86WU2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable D-lactate dehydrogenase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WU2-1", "PR:Q86WU2-1", "ENSEMBL:ENSP00000300051", "ENSEMBL:ENSP00000300051.4"], "information_content": 100.0}
{"id": "NCBIGene:5346", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLIN1", "equivalent_identifiers": ["NCBIGene:5346", "ENSEMBL:ENSG00000166819", "HGNC:9076", "OMIM:170290", "UMLS:C1418649", "UniProtKB:O60240", "PR:O60240", "ENSEMBL:ENSP00000300055", "ENSEMBL:ENSP00000300055.5", "ENSEMBL:ENSP00000402167", "ENSEMBL:ENSP00000402167.2", "UMLS:C4308339", "MESH:C000602978"], "information_content": 90.9}
{"id": "UniProtKB:O75192-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal membrane protein 11A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75192-1", "PR:O75192-1", "ENSEMBL:ENSP00000300056", "ENSEMBL:ENSP00000300056.3"], "information_content": 100.0}
{"id": "MONDO:0013967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroxisome biogenesis disorder 14B", "equivalent_identifiers": ["MONDO:0013967", "DOID:0081274", "OMIM:614920", "UMLS:C3554055", "medgen:766969"], "information_content": 100.0}
{"id": "NCBIGene:55897", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MESP1", "equivalent_identifiers": ["NCBIGene:55897", "ENSEMBL:ENSG00000166823", "HGNC:29658", "OMIM:608689", "UMLS:C1825968", "UniProtKB:Q9BRJ9", "PR:Q9BRJ9", "ENSEMBL:ENSP00000300057", "ENSEMBL:ENSP00000300057.4", "UMLS:C3852134", "MESH:C000589015"], "information_content": 100.0}
{"id": "NCBIGene:290", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANPEP", "equivalent_identifiers": ["NCBIGene:290", "ENSEMBL:ENSG00000166825", "HGNC:500", "OMIM:151530", "UMLS:C1412409", "UniProtKB:P15144", "PR:P15144", "ENSEMBL:ENSP00000300060", "ENSEMBL:ENSP00000300060.6", "ENSEMBL:ENSP00000452934", "ENSEMBL:ENSP00000452934.2", "ENSEMBL:ENSP00000453413", "ENSEMBL:ENSP00000453413.2", "ENSEMBL:ENSP00000502886", "ENSEMBL:ENSP00000502886.1", "UMLS:C3887680", "UniProtKB:Q59E93"], "information_content": 77.1}
{"id": "NCBIGene:6340", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCNN1G", "equivalent_identifiers": ["NCBIGene:6340", "ENSEMBL:ENSG00000166828", "HGNC:10602", "OMIM:600761", "UMLS:C1419871", "UniProtKB:A5X2V1", "UniProtKB:P51170", "PR:P51170", "ENSEMBL:ENSP00000300061", "ENSEMBL:ENSP00000300061.2", "UMLS:C1563401", "MESH:C507052"], "information_content": 92.8}
{"id": "MONDO:0006580", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "miliaria", "equivalent_identifiers": ["MONDO:0006580", "DOID:1382", "EFO:1000734", "UMLS:C0026113", "MESH:D008883", "MEDDRA:10027627", "NCIT:C34820", "SNOMEDCT:63951004", "medgen:44443", "icd11.foundation:204420062", "ICD10:L74.3"], "information_content": 85.5}
{"id": "UniProtKB:Q6ZRY4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein with multiple splicing 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZRY4-1", "PR:Q6ZRY4-1", "ENSEMBL:ENSP00000300069", "ENSEMBL:ENSP00000300069.4"], "information_content": 100.0}
{"id": "UniProtKB:Q969I3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycine N-acyltransferase-like protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q969I3-2", "PR:Q969I3-2", "ENSEMBL:ENSP00000300079", "ENSEMBL:ENSP00000300079.5"], "information_content": 100.0}
{"id": "NCBIGene:54386", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TERF2IP", "equivalent_identifiers": ["NCBIGene:54386", "ENSEMBL:ENSG00000166848", "HGNC:19246", "OMIM:605061", "UMLS:C1426113", "UniProtKB:Q9NYB0", "PR:Q9NYB0", "ENSEMBL:ENSP00000300086", "ENSEMBL:ENSP00000300086.4", "UMLS:C0905054", "UMLS:C3810659", "MESH:C440809"], "information_content": 92.8}
{"id": "UniProtKB:Q9BTE1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynactin subunit 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTE1-1", "PR:Q9BTE1-1", "ENSEMBL:ENSP00000300087", "ENSEMBL:ENSP00000300087.2"], "information_content": 100.0}
{"id": "NCBIGene:5347", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLK1", "equivalent_identifiers": ["NCBIGene:5347", "ENSEMBL:ENSG00000166851", "HGNC:9077", "OMIM:602098", "UMLS:C1335227", "UniProtKB:P53350", "PR:P53350", "ENSEMBL:ENSP00000300093", "ENSEMBL:ENSP00000300093.4", "UMLS:C0290178", "MESH:C000728167"], "information_content": 84.2}
{"id": "NCBIGene:11318", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACKR5", "equivalent_identifiers": ["NCBIGene:11318", "ENSEMBL:ENSG00000166856", "HGNC:13708", "OMIM:605307", "UMLS:C1422155", "UniProtKB:O15218", "PR:O15218", "ENSEMBL:ENSP00000300098", "ENSEMBL:ENSP00000300098.1", "UMLS:C4318400", "MESH:C000626596"], "information_content": 100.0}
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{"id": "NCBIGene:10845", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLPX", "equivalent_identifiers": ["NCBIGene:10845", "ENSEMBL:ENSG00000166855", "HGNC:2088", "OMIM:615611", "UMLS:C1413508", "UniProtKB:O76031", "PR:O76031", "ENSEMBL:ENSP00000300107", "ENSEMBL:ENSP00000300107.3", "UMLS:C2353230", "MESH:C528384"], "information_content": 90.9}
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{"id": "UniProtKB:O14524-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear envelope integral membrane protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14524-1", "PR:O14524-1", "ENSEMBL:ENSP00000300128", "ENSEMBL:ENSP00000300128.4"], "information_content": 100.0}
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{"id": "NCBIGene:91419", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP23", "equivalent_identifiers": ["NCBIGene:91419", "ENSEMBL:ENSG00000166896", "HGNC:29452", "OMIM:619760", "UMLS:C1823879", "UniProtKB:Q9Y6H3", "PR:Q9Y6H3", "ENSEMBL:ENSP00000300145", "ENSEMBL:ENSP00000300145.3", "ENSEMBL:ENSP00000460944", "ENSEMBL:ENSP00000460944.1", "UMLS:C3711359", "MESH:C585461"], "information_content": 100.0}
{"id": "UniProtKB:Q86TB9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein PAT1 homolog 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86TB9-1", "PR:Q86TB9-1", "ENSEMBL:ENSP00000300146", "ENSEMBL:ENSP00000300146.9"], "information_content": 100.0}
{"id": "NCBIGene:54948", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL16", "equivalent_identifiers": ["NCBIGene:54948", "ENSEMBL:ENSG00000166902", "HGNC:14476", "OMIM:611829", "UMLS:C1422682", "UniProtKB:Q9NX20", "PR:Q9NX20", "ENSEMBL:ENSP00000300151", "ENSEMBL:ENSP00000300151.4"], "information_content": 92.8}
{"id": "UniProtKB:P05408-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuroendocrine protein 7B2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P05408-1", "PR:P05408-1", "ENSEMBL:ENSP00000300175", "ENSEMBL:ENSP00000300175.4", "ENSEMBL:ENSP00000482615", "ENSEMBL:ENSP00000482615.1", "ENSEMBL:ENSP00000488109", "ENSEMBL:ENSP00000488109.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZVC0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZVC0-1", "PR:Q6ZVC0-1", "ENSEMBL:ENSP00000300179", "ENSEMBL:ENSP00000300179.2"], "information_content": 100.0}
{"id": "NCBIGene:245802", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MS4A6E", "equivalent_identifiers": ["NCBIGene:245802", "ENSEMBL:ENSG00000166926", "HGNC:14285", "OMIM:608402", "UMLS:C1422543", "UniProtKB:Q96DS6", "PR:Q96DS6", "ENSEMBL:ENSP00000300182", "ENSEMBL:ENSP00000300182.4", "ENSEMBL:ENSP00000507799", "ENSEMBL:ENSP00000507799.1", "UMLS:C1310218", "MESH:C436716"], "information_content": 100.0}
{"id": "UniProtKB:Q96AZ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EEF1A lysine methyltransferase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AZ1-1", "PR:Q96AZ1-1", "ENSEMBL:ENSP00000300209", "ENSEMBL:ENSP00000300209.8"], "information_content": 100.0}
{"id": "UniProtKB:O95273-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-D1-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95273-1", "PR:O95273-1", "ENSEMBL:ENSP00000300213", "ENSEMBL:ENSP00000300213.4"], "information_content": 100.0}
{"id": "MONDO:0005885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic neuritis", "equivalent_identifiers": ["MONDO:0005885", "DOID:1210", "EFO:0007405", "UMLS:C0029134", "MESH:D009902", "MEDDRA:10029247", "MEDDRA:10030942", "MEDDRA:10030944", "MEDDRA:10030946", "NCIT:C84950", "SNOMEDCT:66760008", "medgen:18181", "icd11.foundation:210935787", "ICD10:H46", "ICD9:377.3", "HP:0100653"], "information_content": 86.3}
{"id": "MONDO:0002122", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuritis", "equivalent_identifiers": ["MONDO:0002122", "DOID:1803", "UMLS:C0027813", "UMLS:C0270933", "MESH:D009443", "MEDDRA:10029240", "MEDDRA:10029246", "MEDDRA:10029248", "MEDDRA:10034593", "MEDDRA:10034599", "NCIT:C116381", "SNOMEDCT:128192007", "SNOMEDCT:21018002", "medgen:14344", "HP:0031002"], "information_content": 82.1}
{"id": "NCBIGene:83661", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MS4A8", "equivalent_identifiers": ["NCBIGene:83661", "ENSEMBL:ENSG00000166959", "HGNC:13380", "OMIM:606549", "UMLS:C1421965", "UniProtKB:Q9BY19", "PR:Q9BY19", "ENSEMBL:ENSP00000300226", "ENSEMBL:ENSP00000300226.2", "UMLS:C1098744", "MESH:C438731"], "information_content": 95.4}
{"id": "UniProtKB:P78559-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-associated protein 1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78559-1", "PR:P78559-1", "ENSEMBL:ENSP00000300231", "ENSEMBL:ENSP00000300231.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9H8T0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AKT-interacting protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8T0-2", "PR:Q9H8T0-2", "ENSEMBL:ENSP00000300245", "ENSEMBL:ENSP00000300245.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15555-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-associated protein RP/EB family member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15555-1", "PR:Q15555-1", "ENSEMBL:ENSP00000300249", "ENSEMBL:ENSP00000300249.4"], "information_content": 100.0}
{"id": "UniProtKB:P58658-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein eva-1 homolog C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P58658-1", "PR:P58658-1", "ENSEMBL:ENSP00000300255", "ENSEMBL:ENSP00000300255.2"], "information_content": 100.0}
{"id": "NCBIGene:140290", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCP10L", "equivalent_identifiers": ["NCBIGene:140290", "ENSEMBL:ENSG00000242220", "HGNC:11657", "OMIM:608365", "UMLS:C1420657", "UniProtKB:Q8TDR4", "PR:Q8TDR4", "ENSEMBL:ENSP00000300258", "ENSEMBL:ENSP00000300258.3", "ENSEMBL:ENSP00000501209", "ENSEMBL:ENSP00000501209.1"], "information_content": 100.0}
{"id": "UniProtKB:P12532-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "creatine kinase U-type, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P12532-1", "PR:P12532-1", "ENSEMBL:ENSP00000300283", "ENSEMBL:ENSP00000300283.6", "ENSEMBL:ENSP00000406577", "ENSEMBL:ENSP00000406577.3", "ENSEMBL:ENSP00000413165", "ENSEMBL:ENSP00000413165.1", "ENSEMBL:ENSP00000413255", "ENSEMBL:ENSP00000413255.2"], "information_content": 100.0}
{"id": "NCBIGene:2923", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDIA3", "equivalent_identifiers": ["NCBIGene:2923", "ENSEMBL:ENSG00000167004", "HGNC:4606", "OMIM:602046", "UMLS:C1538607", "UniProtKB:P30101", "PR:P30101", "ENSEMBL:ENSP00000300289", "ENSEMBL:ENSP00000300289.5", "UMLS:C0251914", "MESH:C085868", "UniProtKB:V9HVY3"], "information_content": 87.2}
{"id": "NCBIGene:11051", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUDT21", "equivalent_identifiers": ["NCBIGene:11051", "ENSEMBL:ENSG00000167005", "HGNC:13870", "OMIM:604978", "UMLS:C1826493", "UniProtKB:O43809", "PR:O43809", "ENSEMBL:ENSP00000300291", "ENSEMBL:ENSP00000300291.5"], "information_content": 92.8}
{"id": "UniProtKB:Q8N8M0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable N-acetyltransferase 16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8M0-1", "PR:Q8N8M0-1", "ENSEMBL:ENSP00000300303", "ENSEMBL:ENSP00000300303.2", "ENSEMBL:ENSP00000395125", "ENSEMBL:ENSP00000395125.1"], "information_content": 100.0}
{"id": "MONDO:0013304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "von Willebrand disease 2", "equivalent_identifiers": ["MONDO:0013304", "DOID:0060574", "OMIM:613554", "orphanet:166081", "UMLS:C1264040", "MESH:D056728", "SNOMEDCT:128107007", "medgen:224736", "ICD10:D68.02"], "information_content": 89.4}
{"id": "UniProtKB:Q01196-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "runt-related transcription factor 1 isoform hAML-1G (human)", "equivalent_identifiers": ["UniProtKB:Q01196-8", "PR:Q01196-8", "ENSEMBL:ENSP00000300305", "ENSEMBL:ENSP00000300305.3", "ENSEMBL:ENSP00000501943", "ENSEMBL:ENSP00000501943.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULW0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "targeting protein for Xklp2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULW0-1", "PR:Q9ULW0-1", "ENSEMBL:ENSP00000300403", "ENSEMBL:ENSP00000300403.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHY0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-1,4 N-acetylgalactosaminyltransferase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHY0-1", "PR:Q8NHY0-1", "ENSEMBL:ENSP00000300404", "ENSEMBL:ENSP00000300404.2"], "information_content": 100.0}
{"id": "MONDO:0032906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 82, autosomal recessive", "equivalent_identifiers": ["MONDO:0032906", "DOID:0112343", "OMIM:618770", "orphanet:631073", "UMLS:C5394037", "medgen:1710411"], "information_content": 100.0}
{"id": "MONDO:0031019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic paraplegia 87, autosomal recessive", "equivalent_identifiers": ["MONDO:0031019", "DOID:0070456", "OMIM:619966", "orphanet:631088", "UMLS:C5774182", "medgen:1813069"], "information_content": 100.0}
{"id": "NCBIGene:6632", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNRPD1", "equivalent_identifiers": ["NCBIGene:6632", "ENSEMBL:ENSG00000167088", "HGNC:11158", "OMIM:601063", "UMLS:C1420289", "UniProtKB:P62314", "PR:P62314", "ENSEMBL:ENSP00000300413", "ENSEMBL:ENSP00000300413.4", "UMLS:C1454320", "MESH:C526409"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y3A0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3A0-1", "PR:Q9Y3A0-1", "ENSEMBL:ENSP00000300452", "ENSEMBL:ENSP00000300452.3"], "information_content": 100.0}
{"id": "MONDO:0013977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 13", "equivalent_identifiers": ["MONDO:0013977", "DOID:0111467", "OMIM:614932", "orphanet:319514", "UMLS:C4706283", "SNOMEDCT:763110007", "medgen:1631854"], "information_content": 100.0}
{"id": "UniProtKB:Q6P1M0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "long-chain fatty acid transport protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P1M0-1", "PR:Q6P1M0-1", "ENSEMBL:ENSP00000300456", "ENSEMBL:ENSP00000300456.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 21 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYX1-1", "PR:Q8IYX1-1", "ENSEMBL:ENSP00000300504", "ENSEMBL:ENSP00000300504.2"], "information_content": 100.0}
{"id": "UniProtKB:P12110-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-2(VI) chain isoform 2C2 (human)", "equivalent_identifiers": ["UniProtKB:P12110-1", "PR:P12110-1", "ENSEMBL:ENSP00000300527", "ENSEMBL:ENSP00000300527.4"], "information_content": 100.0}
{"id": "NCBIGene:79170", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRR15L", "equivalent_identifiers": ["NCBIGene:79170", "ENSEMBL:ENSG00000167183", "HGNC:28149", "UMLS:C1825097", "UniProtKB:A0A140VJT1", "UniProtKB:Q9BU68", "PR:Q9BU68", "ENSEMBL:ENSP00000300557", "ENSEMBL:ENSP00000300557.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZH0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G-protein coupled receptor family C group 5 member B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZH0-1", "PR:Q9NZH0-1", "ENSEMBL:ENSP00000300571", "ENSEMBL:ENSP00000300571.2", "ENSEMBL:ENSP00000454727", "ENSEMBL:ENSP00000454727.1", "ENSEMBL:ENSP00000457283", "ENSEMBL:ENSP00000457283.1"], "information_content": 100.0}
{"id": "UniProtKB:P46108-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adapter molecule crk isoform Crk-II (human)", "equivalent_identifiers": ["UniProtKB:P46108-1", "PR:P46108-1", "ENSEMBL:ENSP00000300574", "ENSEMBL:ENSP00000300574.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96LL3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fertilization-influencing membrane protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LL3-1", "PR:Q96LL3-1", "ENSEMBL:ENSP00000300575", "ENSEMBL:ENSP00000300575.2"], "information_content": 100.0}
{"id": "MONDO:0001479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous diphtheria", "equivalent_identifiers": ["MONDO:0001479", "DOID:12275", "EFO:1000683", "UMLS:C0012555", "MEDDRA:10011661", "NCIT:C34544", "SNOMEDCT:18901009", "medgen:41599", "icd11.foundation:618920860", "ICD10:A36.3", "ICD9:032.85"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPU7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPU7-1", "PR:Q9UPU7-1", "ENSEMBL:ENSP00000300584", "ENSEMBL:ENSP00000300584.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9HC29-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleotide-binding oligomerization domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HC29-1", "PR:Q9HC29-1", "ENSEMBL:ENSP00000300589", "ENSEMBL:ENSP00000300589.2"], "information_content": 100.0}
{"id": "MONDO:0011700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 6", "equivalent_identifiers": ["MONDO:0011700", "DOID:0110907", "OMIM:606674", "UMLS:C1847692", "MESH:C564681", "medgen:376191"], "information_content": 100.0}
{"id": "MONDO:0012040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 9", "equivalent_identifiers": ["MONDO:0012040", "DOID:0110886", "OMIM:608448", "UMLS:C1838019", "MESH:C563926", "medgen:324926"], "information_content": 100.0}
{"id": "MONDO:0011521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 7", "equivalent_identifiers": ["MONDO:0011521", "DOID:0110882", "OMIM:605225", "UMLS:C1854573", "MESH:C565353", "medgen:381452"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0R4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0R4-1", "PR:Q9H0R4-1", "ENSEMBL:ENSP00000300605", "ENSEMBL:ENSP00000300605.4"], "information_content": 100.0}
{"id": "UniProtKB:Q05481-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 91 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q05481-1", "PR:Q05481-1", "ENSEMBL:ENSP00000300619", "ENSEMBL:ENSP00000300619.6"], "information_content": 100.0}
{"id": "MONDO:0032817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies", "equivalent_identifiers": ["MONDO:0032817", "DOID:0070346", "OMIM:618571", "EFO:0010561", "UMLS:C5231414", "medgen:1684661"], "information_content": 100.0}
{"id": "NCBIGene:10985", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GCN1", "equivalent_identifiers": ["NCBIGene:10985", "ENSEMBL:ENSG00000089154", "HGNC:4199", "OMIM:605614", "UMLS:C1415018", "UniProtKB:Q92616", "PR:Q92616", "ENSEMBL:ENSP00000300648", "ENSEMBL:ENSP00000300648.6", "UMLS:C4277403", "MESH:C000605933"], "information_content": 83.1}
{"id": "MONDO:0009937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary venoocclusive disease", "equivalent_identifiers": ["MONDO:0009937", "DOID:5453", "OMIM.PS:265450", "orphanet:31837", "UMLS:C0034091", "UMLS:C4280802", "MESH:D011668", "MEDDRA:10037458", "NCIT:C85039", "SNOMEDCT:89420002", "medgen:18769", "HP:0006518"], "information_content": 92.8}
{"id": "UniProtKB:Q8ND24-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RING finger protein 214 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8ND24-1", "PR:Q8ND24-1", "ENSEMBL:ENSP00000300650", "ENSEMBL:ENSP00000300650.4", "ENSEMBL:ENSP00000431643", "ENSEMBL:ENSP00000431643.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15648-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15648-1", "PR:Q15648-1", "ENSEMBL:ENSP00000300651", "ENSEMBL:ENSP00000300651.6"], "information_content": 100.0}
{"id": "UniProtKB:Q96FM1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "post-GPI attachment to proteins factor 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FM1-1", "PR:Q96FM1-1", "ENSEMBL:ENSP00000300658", "ENSEMBL:ENSP00000300658.4"], "information_content": 100.0}
{"id": "UniProtKB:Q12968-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor of activated T-cells, cytoplasmic 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12968-1", "PR:Q12968-1", "ENSEMBL:ENSP00000300659", "ENSEMBL:ENSP00000300659.5"], "information_content": 100.0}
{"id": "UniProtKB:P04234-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell surface glycoprotein CD3 delta chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P04234-1", "PR:P04234-1", "ENSEMBL:ENSP00000300692", "ENSEMBL:ENSP00000300692.4"], "information_content": 100.0}
{"id": "NCBIGene:6240", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RRM1", "equivalent_identifiers": ["NCBIGene:6240", "ENSEMBL:ENSG00000167325", "HGNC:10451", "OMIM:180410", "UMLS:C1335648", "UniProtKB:B4DXD1", "UniProtKB:B4E0I8", "UniProtKB:E9PL69", "ENSEMBL:ENSP00000431464", "ENSEMBL:ENSP00000431464.1", "UniProtKB:P23921", "PR:P23921", "ENSEMBL:ENSP00000300738", "ENSEMBL:ENSP00000300738.5", "UMLS:C1259395", "MESH:C475286"], "information_content": 84.8}
{"id": "UniProtKB:Q6AZZ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM68 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6AZZ1-1", "PR:Q6AZZ1-1", "ENSEMBL:ENSP00000300747", "ENSEMBL:ENSP00000300747.5"], "information_content": 100.0}
{"id": "NCBIGene:282763", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR51B5", "equivalent_identifiers": ["NCBIGene:282763", "ENSEMBL:ENSG00000167355", "HGNC:19599", "UMLS:C1426271", "UniProtKB:Q05CQ2", "UniProtKB:Q9H339", "PR:Q9H339", "ENSEMBL:ENSP00000300773", "ENSEMBL:ENSP00000300773.2"], "information_content": 95.4}
{"id": "NCBIGene:390061", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR51Q1", "equivalent_identifiers": ["NCBIGene:390061", "ENSEMBL:ENSG00000167360", "HGNC:14851", "UMLS:C1422996", "UniProtKB:Q8NH59", "PR:Q8NH59", "ENSEMBL:ENSP00000300778", "ENSEMBL:ENSP00000300778.4"], "information_content": 100.0}
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{"id": "UniProtKB:O15015-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 646 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15015-2", "PR:O15015-2", "ENSEMBL:ENSP00000300850", "ENSEMBL:ENSP00000300850.5"], "information_content": 100.0}
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{"id": "NCBIGene:94235", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNG8", "equivalent_identifiers": ["NCBIGene:94235", "ENSEMBL:ENSG00000167414", "HGNC:19664", "UMLS:C1426314", "UniProtKB:Q9UK08", "PR:Q9UK08", "ENSEMBL:ENSP00000300873", "ENSEMBL:ENSP00000300873.3", "ENSEMBL:ENSP00000508424", "ENSEMBL:ENSP00000508424.1"], "information_content": 95.4}
{"id": "UniProtKB:Q8NFA0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 32 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFA0-1", "PR:Q8NFA0-1", "ENSEMBL:ENSP00000300896", "ENSEMBL:ENSP00000300896.3"], "information_content": 100.0}
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{"id": "NCBIGene:90007", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MIDN", "equivalent_identifiers": ["NCBIGene:90007", "ENSEMBL:ENSG00000167470", "HGNC:16298", "OMIM:606700", "UMLS:C1424166", "UniProtKB:A0A804HKJ8", "ENSEMBL:ENSP00000507955", "ENSEMBL:ENSP00000507955.1", "UniProtKB:Q504T8", "PR:Q504T8", "ENSEMBL:ENSP00000300952", "ENSEMBL:ENSP00000300952.2", "ENSEMBL:ENSP00000467679", "ENSEMBL:ENSP00000467679.1"], "information_content": 90.9}
{"id": "MONDO:0001904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyneuropathy due to drug", "equivalent_identifiers": ["MONDO:0001904", "DOID:14184", "UMLS:C0154762", "SNOMEDCT:7339009", "medgen:509649", "ICD10:G62.0", "ICD9:357.6"], "information_content": 100.0}
{"id": "UniProtKB:Q6UW60-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proprotein convertase subtilisin/kexin type 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UW60-1", "PR:Q6UW60-1", "ENSEMBL:ENSP00000300954", "ENSEMBL:ENSP00000300954.5"], "information_content": 100.0}
{"id": "MONDO:0010311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Becker muscular dystrophy", "equivalent_identifiers": ["MONDO:0010311", "DOID:9883", "OMIM:300376", "orphanet:98895", "UMLS:C0699741", "UMLS:C0917713", "UMLS:C3490459", "MESH:C570377", "MEDDRA:10059117", "NCIT:C84587", "SNOMEDCT:193222002", "SNOMEDCT:387732009", "medgen:182959", "icd11.foundation:690532643"], "information_content": 95.4}
{"id": "NCBIGene:126306", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JSRP1", "equivalent_identifiers": ["NCBIGene:126306", "ENSEMBL:ENSG00000167476", "HGNC:24963", "OMIM:608743", "UMLS:C1825641", "UniProtKB:Q96MG2", "PR:Q96MG2", "ENSEMBL:ENSP00000300961", "ENSEMBL:ENSP00000300961.4", "UMLS:C1312710", "MESH:C418633"], "information_content": 100.0}
{"id": "NCBIGene:55295", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHL26", "equivalent_identifiers": ["NCBIGene:55295", "ENSEMBL:ENSG00000167487", "HGNC:25623", "UMLS:C1825728", "UniProtKB:M0R1N0", "ENSEMBL:ENSP00000472001", "ENSEMBL:ENSP00000472001.1", "UniProtKB:M0R1P3", "ENSEMBL:ENSP00000472032", "ENSEMBL:ENSP00000472032.1", "UniProtKB:Q53HC5", "PR:Q53HC5", "ENSEMBL:ENSP00000300976", "ENSEMBL:ENSP00000300976.3"], "information_content": 95.4}
{"id": "MONDO:0003075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral retinoblastoma", "equivalent_identifiers": ["MONDO:0003075", "DOID:4650", "UMLS:C0854914", "MEDDRA:10038917", "NCIT:C8713", "medgen:163163"], "information_content": 95.4}
{"id": "NCBIGene:4597", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MVD", "equivalent_identifiers": ["NCBIGene:4597", "ENSEMBL:ENSG00000167508", "HGNC:7529", "OMIM:603236", "UMLS:C1417507", "UniProtKB:P53602", "PR:P53602", "ENSEMBL:ENSP00000301012", "ENSEMBL:ENSP00000301012.3"], "information_content": 95.4}
{"id": "NCBIGene:9780", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIEZO1", "equivalent_identifiers": ["NCBIGene:9780", "ENSEMBL:ENSG00000103335", "HGNC:28993", "OMIM:611184", "UMLS:C1539428", "UniProtKB:Q92508", "PR:Q92508", "ENSEMBL:ENSP00000301015", "ENSEMBL:ENSP00000301015.9", "UMLS:C1872588", "MESH:C515204"], "information_content": 84.2}
{"id": "NCBIGene:81620", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDT1", "equivalent_identifiers": ["NCBIGene:81620", "ENSEMBL:ENSG00000167513", "HGNC:24576", "OMIM:605525", "UMLS:C1332742", "UniProtKB:Q9H211", "PR:Q9H211", "ENSEMBL:ENSP00000301019", "ENSEMBL:ENSP00000301019.4", "UMLS:C1171768", "UMLS:C1325318", "MESH:C467199"], "information_content": 90.9}
{"id": "NCBIGene:29123", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD11", "equivalent_identifiers": ["NCBIGene:29123", "ENSEMBL:ENSG00000167522", "HGNC:21316", "OMIM:611192", "UMLS:C1427487", "UniProtKB:Q6UB99", "PR:Q6UB99", "ENSEMBL:ENSP00000301030", "ENSEMBL:ENSP00000301030.4", "ENSEMBL:ENSP00000367581", "ENSEMBL:ENSP00000367581.2", "ENSEMBL:ENSP00000495226", "ENSEMBL:ENSP00000495226.1", "UMLS:C1527959", "UMLS:C5444832", "MESH:C492515"], "information_content": 92.8}
{"id": "MONDO:0007045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofacial dysostosis, Catania type", "equivalent_identifiers": ["MONDO:0007045", "DOID:0060384", "OMIM:101805", "orphanet:1786", "UMLS:C2931762", "MESH:C538182", "SNOMEDCT:720419000", "medgen:419487", "icd11.foundation:750680130"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000301037", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000301037", "equivalent_identifiers": ["ENSEMBL:ENSP00000301037"]}
{"id": "MONDO:0012092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory and autonomic neuropathy type 5", "equivalent_identifiers": ["MONDO:0012092", "DOID:0070145", "OMIM:608654", "orphanet:64752", "UMLS:C0002768", "UMLS:C0020075", "MESH:D000699", "NCIT:C156360", "SNOMEDCT:128206006", "SNOMEDCT:403605007", "medgen:6916", "icd11.foundation:1411011731"], "information_content": 100.0}
{"id": "NCBIGene:3906", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LALBA", "equivalent_identifiers": ["NCBIGene:3906", "ENSEMBL:ENSG00000167531", "HGNC:6480", "OMIM:149750", "UMLS:C1442889", "UniProtKB:A0A080YV01", "UniProtKB:P00709", "PR:P00709", "ENSEMBL:ENSP00000301046", "ENSEMBL:ENSP00000301046.2", "UMLS:C5441590"], "information_content": 95.4}
{"id": "MONDO:0000771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "allergic respiratory disease", "equivalent_identifiers": ["MONDO:0000771", "DOID:0060496", "UMLS:C1504369", "MEDDRA:10063532", "SNOMEDCT:421092003", "medgen:734246"], "information_content": 79.0}
{"id": "UniProtKB:P54284-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent L-type calcium channel subunit beta-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P54284-1", "PR:P54284-1", "ENSEMBL:ENSP00000301050", "ENSEMBL:ENSP00000301050.2"], "information_content": 100.0}
{"id": "NCBIGene:90313", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TP53I13", "equivalent_identifiers": ["NCBIGene:90313", "ENSEMBL:ENSG00000167543", "HGNC:25102", "UMLS:C1823466", "UniProtKB:Q8NBR0", "PR:Q8NBR0", "ENSEMBL:ENSP00000301057", "ENSEMBL:ENSP00000301057.7", "UMLS:C1528003", "MESH:C492526"], "information_content": 100.0}
{"id": "UniProtKB:O00744-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Wnt-10b isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00744-1", "PR:O00744-1", "ENSEMBL:ENSP00000301061", "ENSEMBL:ENSP00000301061.4"], "information_content": 100.0}
{"id": "UniProtKB:O14686-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase 2D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14686-1", "PR:O14686-1", "ENSEMBL:ENSP00000301067", "ENSEMBL:ENSP00000301067.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAI7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTPase RhebL1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAI7-1", "PR:Q8TAI7-1", "ENSEMBL:ENSP00000301068", "ENSEMBL:ENSP00000301068.6"], "information_content": 100.0}
{"id": "NCBIGene:1548", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP2A6", "equivalent_identifiers": ["NCBIGene:1548", "ENSEMBL:ENSG00000255974", "HGNC:2610", "OMIM:122720", "UMLS:C1413868", "UniProtKB:P11509", "PR:P11509", "ENSEMBL:ENSP00000301141", "ENSEMBL:ENSP00000301141.4", "UMLS:C3884187", "MESH:C585710"], "information_content": 100.0}
{"id": "NCBIGene:1549", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP2A7", "equivalent_identifiers": ["NCBIGene:1549", "ENSEMBL:ENSG00000198077", "HGNC:2611", "OMIM:608054", "UMLS:C1413869", "UniProtKB:F8W816", "ENSEMBL:ENSP00000291764", "ENSEMBL:ENSP00000291764.3", "UniProtKB:P20853", "PR:P20853", "ENSEMBL:ENSP00000301146", "ENSEMBL:ENSP00000301146.4", "UMLS:C3711338", "MESH:C423964"], "information_content": 100.0}
{"id": "UniProtKB:P21695-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P21695-1", "PR:P21695-1", "ENSEMBL:ENSP00000301149", "ENSEMBL:ENSP00000301149.3"], "information_content": 100.0}
{"id": "NCBIGene:55957", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIN37", "equivalent_identifiers": ["NCBIGene:55957", "ENSEMBL:ENSG00000267796", "HGNC:33234", "OMIM:621287", "UMLS:C2239653", "UniProtKB:Q96GY3", "PR:Q96GY3", "ENSEMBL:ENSP00000301159", "ENSEMBL:ENSP00000301159.7", "UMLS:C2002388", "UMLS:C5203042", "MESH:C523007"], "information_content": 95.4}
{"id": "NCBIGene:58510", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRODH2", "equivalent_identifiers": ["NCBIGene:58510", "ENSEMBL:ENSG00000250799", "HGNC:17325", "OMIM:616377", "UMLS:C1424903", "UniProtKB:Q9UF12", "PR:Q9UF12", "ENSEMBL:ENSP00000301175", "ENSEMBL:ENSP00000301175.4", "ENSEMBL:ENSP00000499779", "ENSEMBL:ENSP00000499779.1", "UMLS:C3657000", "MESH:C582834"], "information_content": 100.0}
{"id": "UniProtKB:P30530-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase receptor UFO isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P30530-1", "PR:P30530-1", "ENSEMBL:ENSP00000301178", "ENSEMBL:ENSP00000301178.3"], "information_content": 100.0}
{"id": "NCBIGene:57609", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DIP2B", "equivalent_identifiers": ["NCBIGene:57609", "ENSEMBL:ENSG00000066084", "HGNC:29284", "OMIM:611379", "UMLS:C1824938", "UniProtKB:Q96IB4", "UniProtKB:Q9P265", "PR:Q9P265", "ENSEMBL:ENSP00000301180", "ENSEMBL:ENSP00000301180.5"], "information_content": 85.5}
{"id": "UniProtKB:Q6ISS4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukocyte-associated immunoglobulin-like receptor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ISS4-1", "PR:Q6ISS4-1", "ENSEMBL:ENSP00000301202", "ENSEMBL:ENSP00000301202.2", "ENSEMBL:ENSP00000477535", "ENSEMBL:ENSP00000477535.1", "ENSEMBL:ENSP00000478193", "ENSEMBL:ENSP00000478193.1"], "information_content": 100.0}
{"id": "NCBIGene:116115", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF526", "equivalent_identifiers": ["NCBIGene:116115", "ENSEMBL:ENSG00000167625", "HGNC:29415", "OMIM:614387", "UMLS:C1428857", "UniProtKB:H9ZYJ3", "UMLS:C5772822", "MESH:C000723835", "UniProtKB:Q8TF50", "PR:Q8TF50", "ENSEMBL:ENSP00000301215", "ENSEMBL:ENSP00000301215.2", "ENSEMBL:ENSP00000518206", "ENSEMBL:ENSP00000518206.1"], "information_content": 95.4}
{"id": "MONDO:0006390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prostate small cell carcinoma", "equivalent_identifiers": ["MONDO:0006390", "DOID:7141", "EFO:1000499", "UMLS:C1300585", "UMLS:C5574976", "NCIT:C6766", "SNOMEDCT:1208457007", "SNOMEDCT:396198006", "medgen:266251"], "information_content": 88.2}
{"id": "MONDO:0004913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alternating esotropia", "equivalent_identifiers": ["MONDO:0004913", "DOID:9888", "UMLS:C0152205", "MEDDRA:10001855", "SNOMEDCT:39837002", "medgen:57515", "icd11.foundation:935468618", "ICD10:H50.05", "ICD9:378.05", "HP:0001137"], "information_content": 100.0}
{"id": "UniProtKB:Q16478-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor ionotropic, kainate 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16478-2", "PR:Q16478-2", "ENSEMBL:ENSP00000301218", "ENSEMBL:ENSP00000301218.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96A00-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1 regulatory subunit 14A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96A00-1", "PR:Q96A00-1", "ENSEMBL:ENSP00000301242", "ENSEMBL:ENSP00000301242.3"], "information_content": 100.0}
{"id": "UniProtKB:O43291-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Kunitz-type protease inhibitor 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43291-1", "PR:O43291-1", "ENSEMBL:ENSP00000301244", "ENSEMBL:ENSP00000301244.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZP8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "immortalization up-regulated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZP8-1", "PR:Q9GZP8-1", "ENSEMBL:ENSP00000301246", "ENSEMBL:ENSP00000301246.4"], "information_content": 100.0}
{"id": "NCBIGene:8000", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSCA", "equivalent_identifiers": ["NCBIGene:8000", "ENSEMBL:ENSG00000167653", "HGNC:9500", "OMIM:602470", "UMLS:C1418977", "UniProtKB:O43653", "PR:O43653", "ENSEMBL:ENSP00000301258", "ENSEMBL:ENSP00000301258.4", "UMLS:C1612119", "MESH:C110843"], "information_content": 100.0}
{"id": "MONDO:0005411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gallbladder cancer", "equivalent_identifiers": ["MONDO:0005411", "DOID:3121", "UMLS:C0153452", "UMLS:C0278806", "MEDDRA:10017614", "MEDDRA:10017615", "MEDDRA:10017616", "MEDDRA:10017618", "MEDDRA:10017634", "MEDDRA:10025940", "MEDDRA:10025945", "MEDDRA:10073919", "NCIT:C35676", "NCIT:C7481", "SNOMEDCT:363353009", "medgen:57784", "ICD10:C23", "ICD9:156.0"], "information_content": 71.1}
{"id": "UniProtKB:Q96BF3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane and immunoglobulin domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BF3-1", "PR:Q96BF3-1", "ENSEMBL:ENSP00000301272", "ENSEMBL:ENSP00000301272.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13111-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromatin assembly factor 1 subunit A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13111-1", "PR:Q13111-1", "ENSEMBL:ENSP00000301280", "ENSEMBL:ENSP00000301280.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZV1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UBX domain-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZV1-1", "PR:Q9BZV1-1", "ENSEMBL:ENSP00000301281", "ENSEMBL:ENSP00000301281.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96MN2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NACHT, LRR and PYD domains-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MN2-1", "PR:Q96MN2-1", "ENSEMBL:ENSP00000301295", "ENSEMBL:ENSP00000301295.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6P5W5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc transporter ZIP4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P5W5-1", "PR:Q6P5W5-1", "ENSEMBL:ENSP00000301305", "ENSEMBL:ENSP00000301305.4"], "information_content": 100.0}
{"id": "NCBIGene:147948", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF582", "equivalent_identifiers": ["NCBIGene:147948", "ENSEMBL:ENSG00000018869", "HGNC:26421", "OMIM:615600", "UMLS:C1428586", "UniProtKB:Q96NG8", "PR:Q96NG8", "ENSEMBL:ENSP00000301310", "ENSEMBL:ENSP00000301310.3", "ENSEMBL:ENSP00000465619", "ENSEMBL:ENSP00000465619.1", "UMLS:C3530132", "MESH:C577358"], "information_content": 100.0}
{"id": "MONDO:0005215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulva carcinoma", "equivalent_identifiers": ["MONDO:0005215", "DOID:1294", "orphanet:494418", "EFO:0002921", "UMLS:C0677055", "UMLS:C3163813", "MEDDRA:10051963", "NCIT:C4866", "SNOMEDCT:447882007", "medgen:146159"], "information_content": 70.6}
{"id": "UniProtKB:Q8NHY6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 28 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHY6-1", "PR:Q8NHY6-1", "ENSEMBL:ENSP00000301318", "ENSEMBL:ENSP00000301318.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96NA2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab-interacting lysosomal protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NA2-1", "PR:Q96NA2-1", "ENSEMBL:ENSP00000301336", "ENSEMBL:ENSP00000301336.6", "ENSEMBL:ENSP00000481849", "ENSEMBL:ENSP00000481849.1"], "information_content": 100.0}
{"id": "NCBIGene:55720", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSR1", "equivalent_identifiers": ["NCBIGene:55720", "ENSEMBL:ENSG00000167721", "HGNC:25542", "OMIM:611214", "UMLS:C1823522", "UniProtKB:Q2NL82", "PR:Q2NL82", "ENSEMBL:ENSP00000301364", "ENSEMBL:ENSP00000301364.4"], "information_content": 88.2}
{"id": "UniProtKB:Q8NET8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transient receptor potential cation channel subfamily V member 3 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q8NET8-2", "PR:Q8NET8-2", "ENSEMBL:ENSP00000301365", "ENSEMBL:ENSP00000301365.4"], "information_content": 100.0}
{"id": "NCBIGene:27043", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PELP1", "equivalent_identifiers": ["NCBIGene:27043", "ENSEMBL:ENSG00000141456", "HGNC:30134", "OMIM:609455", "UMLS:C1826567", "UniProtKB:B4DEX7", "UniProtKB:B4DR36", "UniProtKB:C9JFV4", "ENSEMBL:ENSP00000301396", "ENSEMBL:ENSP00000301396.5", "UniProtKB:E7EV54", "ENSEMBL:ENSP00000416231", "ENSEMBL:ENSP00000416231.2", "UniProtKB:Q8IZL8", "PR:Q8IZL8", "ENSEMBL:ENSP00000460300", "ENSEMBL:ENSP00000460300.2", "ENSEMBL:ENSP00000461625", "ENSEMBL:ENSP00000461625.1", "UMLS:C1098628", "MESH:C438485"]}
{"id": "UniProtKB:A6NKQ9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choriogonadotropin subunit beta variant 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:A6NKQ9-2", "PR:A6NKQ9-2", "ENSEMBL:ENSP00000301407", "ENSEMBL:ENSP00000301407.6"], "information_content": 100.0}
{"id": "UniProtKB:P0DN86-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choriogonadotropin subunit beta 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0DN86-1", "PR:P0DN86-1", "ENSEMBL:ENSP00000301408", "ENSEMBL:ENSP00000301408.5", "ENSEMBL:ENSP00000349954", "ENSEMBL:ENSP00000349954.2", "ENSEMBL:ENSP00000403649", "ENSEMBL:ENSP00000403649.2"], "information_content": 95.4}
{"id": "UniProtKB:P06870-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kallikrein-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P06870-1", "PR:P06870-1", "ENSEMBL:ENSP00000301420", "ENSEMBL:ENSP00000301420.1"], "information_content": 100.0}
{"id": "NCBIGene:125981", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACER1", "equivalent_identifiers": ["NCBIGene:125981", "ENSEMBL:ENSG00000167769", "HGNC:18356", "OMIM:613491", "UMLS:C2681403", "UniProtKB:Q8TDN7", "PR:Q8TDN7", "ENSEMBL:ENSP00000301452", "ENSEMBL:ENSP00000301452.3", "UMLS:C2000892", "MESH:C526750"], "information_content": 100.0}
{"id": "MONDO:0016483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intracranial berry aneurysm", "equivalent_identifiers": ["MONDO:0016483", "DOID:0060228", "OMIM.PS:105800", "orphanet:231160", "UMLS:C3839866", "SNOMEDCT:703226008", "medgen:825711", "icd11.foundation:59881644"], "information_content": 83.1}
{"id": "UniProtKB:Q9BV35-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial adenyl nucleotide antiporter SLC25A23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BV35-1", "PR:Q9BV35-1", "ENSEMBL:ENSP00000301454", "ENSEMBL:ENSP00000301454.3"], "information_content": 100.0}
{"id": "MONDO:0011218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 11", "equivalent_identifiers": ["MONDO:0011218", "DOID:0060720", "OMIM:602400", "orphanet:91132", "UMLS:C1835851", "MESH:C536273", "medgen:332073", "ICD10:Q80.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9BY76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "angiopoietin-related protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY76-1", "PR:Q9BY76-1", "ENSEMBL:ENSP00000301455", "ENSEMBL:ENSP00000301455.1", "ENSEMBL:ENSP00000472551", "ENSEMBL:ENSP00000472551.1"], "information_content": 100.0}
{"id": "NCBIGene:4701", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFA7", "equivalent_identifiers": ["NCBIGene:4701", "ENSEMBL:ENSG00000267855", "HGNC:7691", "OMIM:602139", "UMLS:C1417628", "UniProtKB:O95182", "PR:O95182", "ENSEMBL:ENSP00000301457", "ENSEMBL:ENSP00000301457.1", "ENSEMBL:ENSP00000470962", "ENSEMBL:ENSP00000470962.1"], "information_content": 92.8}
{"id": "MONDO:0009568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mast syndrome", "equivalent_identifiers": ["MONDO:0009568", "DOID:0060245", "OMIM:248900", "orphanet:101001", "UMLS:C1855346", "MESH:C565409", "SNOMEDCT:764734003", "medgen:343325"], "information_content": 100.0}
{"id": "UniProtKB:Q9NPF0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD320 antigen isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPF0-1", "PR:Q9NPF0-1", "ENSEMBL:ENSP00000301458", "ENSEMBL:ENSP00000301458.4"], "information_content": 100.0}
{"id": "NCBIGene:283248", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RCOR2", "equivalent_identifiers": ["NCBIGene:283248", "ENSEMBL:ENSG00000167771", "HGNC:27455", "OMIM:616019", "UMLS:C1538821", "UniProtKB:Q8IZ40", "PR:Q8IZ40", "ENSEMBL:ENSP00000301459", "ENSEMBL:ENSP00000301459.4"], "information_content": 95.4}
{"id": "NCBIGene:3489", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGFBP6", "equivalent_identifiers": ["NCBIGene:3489", "ENSEMBL:ENSG00000167779", "HGNC:5475", "OMIM:146735", "UMLS:C1367148", "UniProtKB:F8VVA5", "ENSEMBL:ENSP00000449344", "ENSEMBL:ENSP00000449344.1", "UniProtKB:P24592", "PR:P24592", "ENSEMBL:ENSP00000301464", "ENSEMBL:ENSP00000301464.3", "UMLS:C1442822"], "information_content": 80.9}
{"id": "UniProtKB:O75908-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sterol O-acyltransferase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75908-1", "PR:O75908-1", "ENSEMBL:ENSP00000301466", "ENSEMBL:ENSP00000301466.3"], "information_content": 100.0}
{"id": "NCBIGene:10263", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDK2AP2", "equivalent_identifiers": ["NCBIGene:10263", "ENSEMBL:ENSG00000167797", "HGNC:30833", "OMIM:620061", "UMLS:C1540306", "UniProtKB:O75956", "PR:O75956", "ENSEMBL:ENSP00000301488", "ENSEMBL:ENSP00000301488.4", "UMLS:C0910618", "MESH:C401561", "UniProtKB:Q6IAV4"], "information_content": 100.0}
{"id": "UniProtKB:P32119-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxiredoxin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P32119-1", "PR:P32119-1", "ENSEMBL:ENSP00000301522", "ENSEMBL:ENSP00000301522.2"], "information_content": 100.0}
{"id": "NCBIGene:10798", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5I1", "equivalent_identifiers": ["NCBIGene:10798", "ENSEMBL:ENSG00000167825", "HGNC:8347", "OMIM:608496", "UMLS:C1418092", "UniProtKB:A0A126GVE5", "UniProtKB:Q13606", "PR:Q13606", "ENSEMBL:ENSP00000301532", "ENSEMBL:ENSP00000301532.3"], "information_content": 100.0}
{"id": "NCBIGene:3396", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL58", "equivalent_identifiers": ["NCBIGene:3396", "ENSEMBL:ENSG00000167862", "HGNC:5359", "OMIM:603000", "UMLS:C1415854", "UniProtKB:Q14197", "PR:Q14197", "ENSEMBL:ENSP00000301585", "ENSEMBL:ENSP00000301585.5", "UMLS:C1307663", "MESH:C098021"], "information_content": 92.8}
{"id": "MONDO:0007159", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis-like hand anomaly-sensorineural deafness syndrome", "equivalent_identifiers": ["MONDO:0007159", "DOID:0111609", "OMIM:108200", "orphanet:1144", "UMLS:C1862471", "MESH:C535386", "SNOMEDCT:720515009", "medgen:350677"], "information_content": 100.0}
{"id": "MONDO:0012371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 3", "equivalent_identifiers": ["MONDO:0012371", "DOID:0060581", "OMIM:609942", "UMLS:C1860991", "MESH:C537847", "NCIT:C176931", "medgen:349931"], "information_content": 100.0}
{"id": "UniProtKB:O75947-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP synthase subunit d, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75947-1", "PR:O75947-1", "ENSEMBL:ENSP00000301587", "ENSEMBL:ENSP00000301587.4"], "information_content": 100.0}
{"id": "NCBIGene:92162", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM88", "equivalent_identifiers": ["NCBIGene:92162", "ENSEMBL:ENSG00000167874", "HGNC:32371", "OMIM:617813", "UMLS:C1823350", "UniProtKB:I3L2J3", "ENSEMBL:ENSP00000459725", "ENSEMBL:ENSP00000459725.1", "UMLS:C2975635", "MESH:C555652", "UniProtKB:Q6PEY1", "PR:Q6PEY1", "ENSEMBL:ENSP00000301599", "ENSEMBL:ENSP00000301599.6"], "information_content": 95.4}
{"id": "NCBIGene:332", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BIRC5", "equivalent_identifiers": ["NCBIGene:332", "ENSEMBL:ENSG00000089685", "HGNC:593", "OMIM:603352", "UMLS:C1332416", "UniProtKB:A0A0B4J1S3", "ENSEMBL:ENSP00000324180", "ENSEMBL:ENSP00000324180.4", "UniProtKB:H3BLT4", "ENSEMBL:ENSP00000301633", "ENSEMBL:ENSP00000301633.3", "UniProtKB:O15392", "PR:O15392", "UMLS:C1571495", "MESH:C107489"]}
{"id": "NCBIGene:1581", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP7A1", "equivalent_identifiers": ["NCBIGene:1581", "ENSEMBL:ENSG00000167910", "HGNC:2651", "OMIM:118455", "UMLS:C1413893", "UniProtKB:P22680", "PR:P22680", "ENSEMBL:ENSP00000301645", "ENSEMBL:ENSP00000301645.3", "UMLS:C2976704", "MESH:C553219"], "information_content": 100.0}
{"id": "NCBIGene:3868", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT16", "equivalent_identifiers": ["NCBIGene:3868", "ENSEMBL:ENSG00000186832", "HGNC:6423", "OMIM:148067", "UMLS:C1416724", "UniProtKB:P08779", "PR:P08779", "ENSEMBL:ENSP00000301653", "ENSEMBL:ENSP00000301653.3", "UMLS:C1672521", "MESH:C507431"], "information_content": 100.0}
{"id": "NCBIGene:342574", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT27", "equivalent_identifiers": ["NCBIGene:342574", "ENSEMBL:ENSG00000171446", "HGNC:30841", "OMIM:616676", "UMLS:C1825745", "UniProtKB:Q7Z3Y8", "PR:Q7Z3Y8", "ENSEMBL:ENSP00000301656", "ENSEMBL:ENSP00000301656.3"], "information_content": 100.0}
{"id": "NCBIGene:284110", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSDMA", "equivalent_identifiers": ["NCBIGene:284110", "ENSEMBL:ENSG00000167914", "HGNC:13311", "OMIM:611218", "UMLS:C1539617", "UniProtKB:Q96QA5", "PR:Q96QA5", "ENSEMBL:ENSP00000301659", "ENSEMBL:ENSP00000301659.4", "ENSEMBL:ENSP00000490739", "ENSEMBL:ENSP00000490739.1", "UMLS:C1436947", "MESH:C485887"], "information_content": 100.0}
{"id": "UniProtKB:Q8N2G8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GH3 domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2G8-1", "PR:Q8N2G8-1", "ENSEMBL:ENSP00000301671", "ENSEMBL:ENSP00000301671.7", "ENSEMBL:ENSP00000467585", "ENSEMBL:ENSP00000467585.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQB4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sclerostin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQB4-1", "PR:Q9BQB4-1", "ENSEMBL:ENSP00000301691", "ENSEMBL:ENSP00000301691.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H9P5-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative E3 ubiquitin-protein ligase UNKL isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9P5-5", "PR:Q9H9P5-5", "ENSEMBL:ENSP00000301712", "ENSEMBL:ENSP00000301712.5"], "information_content": 100.0}
{"id": "NCBIGene:1877", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "E4F1", "equivalent_identifiers": ["NCBIGene:1877", "ENSEMBL:ENSG00000167967", "HGNC:3121", "OMIM:603022", "UMLS:C1414230", "UniProtKB:H3BSL4", "ENSEMBL:ENSP00000456760", "ENSEMBL:ENSP00000456760.1", "UniProtKB:H3BUJ7", "ENSEMBL:ENSP00000457672", "ENSEMBL:ENSP00000457672.1", "UniProtKB:Q66K89", "PR:Q66K89", "ENSEMBL:ENSP00000301727", "ENSEMBL:ENSP00000301727.4", "UMLS:C1743358", "MESH:C513814"], "information_content": 92.8}
{"id": "UniProtKB:Q99758-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid-transporting ATPase ABCA3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99758-1", "PR:Q99758-1", "ENSEMBL:ENSP00000301732", "ENSEMBL:ENSP00000301732.5"], "information_content": 100.0}
{"id": "MONDO:0009928", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary alveolar microlithiasis", "equivalent_identifiers": ["MONDO:0009928", "DOID:12117", "OMIM:265100", "orphanet:60025", "UMLS:C0155912", "MESH:C562405", "MEDDRA:10037315", "SNOMEDCT:87153008", "medgen:56374", "icd11.foundation:1220010076", "ICD10:J84.02", "ICD9:516.2"], "information_content": 100.0}
{"id": "MONDO:0002929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary immaturity", "equivalent_identifiers": ["MONDO:0002929", "DOID:424", "UMLS:C0270163", "SNOMEDCT:42908004", "medgen:542574", "ICD10:P28.0", "ICD9:770.4"], "information_content": 100.0}
{"id": "NCBIGene:54442", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCTD5", "equivalent_identifiers": ["NCBIGene:54442", "ENSEMBL:ENSG00000167977", "HGNC:21423", "OMIM:611285", "UMLS:C1427556", "UniProtKB:Q9NXV2", "PR:Q9NXV2", "ENSEMBL:ENSP00000301738", "ENSEMBL:ENSP00000301738.4", "UMLS:C1958479", "MESH:C521187"], "information_content": 95.4}
{"id": "UniProtKB:Q9UQ35-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/arginine repetitive matrix protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ35-1", "PR:Q9UQ35-1", "ENSEMBL:ENSP00000301740", "ENSEMBL:ENSP00000301740.8", "ENSEMBL:ENSP00000461181", "ENSEMBL:ENSP00000461181.2"], "information_content": 100.0}
{"id": "NCBIGene:146434", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF597", "equivalent_identifiers": ["NCBIGene:146434", "ENSEMBL:ENSG00000167981", "HGNC:26573", "OMIM:614685", "UMLS:C1428608", "UniProtKB:Q96LX8", "PR:Q96LX8", "ENSEMBL:ENSP00000301744", "ENSEMBL:ENSP00000301744.4", "UMLS:C4507127", "MESH:C000619298"], "information_content": 100.0}
{"id": "MONDO:0016391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal diabetes mellitus", "equivalent_identifiers": ["MONDO:0016391", "DOID:11717", "orphanet:224", "UMLS:C0158981", "MEDDRA:10028933", "NCIT:C99248", "SNOMEDCT:49817004", "medgen:57645", "icd11.foundation:1217915084", "ICD9:775.1"], "information_content": 81.7}
{"id": "MONDO:0006803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inferior myocardial infarction", "equivalent_identifiers": ["MONDO:0006803", "DOID:5850", "EFO:1000983", "UMLS:C0340305", "MESH:D056989", "MEDDRA:10021922", "MEDDRA:10057546", "medgen:83305"], "information_content": 100.0}
{"id": "NCBIGene:54949", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDHAF2", "equivalent_identifiers": ["NCBIGene:54949", "ENSEMBL:ENSG00000167985", "HGNC:26034", "OMIM:613019", "UMLS:C2240298", "UniProtKB:Q9NX18", "PR:Q9NX18", "ENSEMBL:ENSP00000301761", "ENSEMBL:ENSP00000301761.3", "UMLS:C2743909", "UMLS:C3273617", "MESH:C543341"], "information_content": 95.4}
{"id": "UniProtKB:Q16531-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA damage-binding protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16531-1", "PR:Q16531-1", "ENSEMBL:ENSP00000301764", "ENSEMBL:ENSP00000301764.7", "ENSEMBL:ENSP00000506223", "ENSEMBL:ENSP00000506223.1", "ENSEMBL:ENSP00000506685", "ENSEMBL:ENSP00000506685.1"], "information_content": 100.0}
{"id": "NCBIGene:55048", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VPS37C", "equivalent_identifiers": ["NCBIGene:55048", "ENSEMBL:ENSG00000167987", "HGNC:26097", "OMIM:610038", "UMLS:C1823642", "UniProtKB:A5D8V6", "PR:A5D8V6", "ENSEMBL:ENSP00000301765", "ENSEMBL:ENSP00000301765.5", "UMLS:C1571104", "MESH:C502194"], "information_content": 100.0}
{"id": "NCBIGene:5436", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR2G", "equivalent_identifiers": ["NCBIGene:5436", "ENSEMBL:ENSG00000168002", "HGNC:9194", "OMIM:602013", "UMLS:C1418745", "UniProtKB:P62487", "PR:P62487", "ENSEMBL:ENSP00000301788", "ENSEMBL:ENSP00000301788.7", "UMLS:C1311873", "MESH:C477608"], "information_content": 87.2}
{"id": "UniProtKB:Q96KN8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipase A and acyltransferase 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96KN8-1", "PR:Q96KN8-1", "ENSEMBL:ENSP00000301790", "ENSEMBL:ENSP00000301790.4"], "information_content": 100.0}
{"id": "UniProtKB:O75355-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ectonucleoside triphosphate diphosphohydrolase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75355-1", "PR:O75355-1", "ENSEMBL:ENSP00000301825", "ENSEMBL:ENSP00000301825.3", "ENSEMBL:ENSP00000401565", "ENSEMBL:ENSP00000401565.1"], "information_content": 100.0}
{"id": "NCBIGene:54986", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ULK4", "equivalent_identifiers": ["NCBIGene:54986", "ENSEMBL:ENSG00000168038", "HGNC:15784", "OMIM:617010", "UMLS:C1540162", "UniProtKB:Q96C45", "PR:Q96C45", "ENSEMBL:ENSP00000301831", "ENSEMBL:ENSP00000301831.4"], "information_content": 100.0}
{"id": "NCBIGene:8772", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FADD", "equivalent_identifiers": ["NCBIGene:8772", "ENSEMBL:ENSG00000168040", "HGNC:3573", "OMIM:602457", "UMLS:C1333530", "UniProtKB:Q13158", "PR:Q13158", "ENSEMBL:ENSP00000301838", "ENSEMBL:ENSP00000301838.5", "UMLS:C1527783", "MESH:C505533"], "information_content": 80.6}
{"id": "UniProtKB:Q9NS15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "latent-transforming growth factor beta-binding protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NS15-1", "PR:Q9NS15-1", "ENSEMBL:ENSP00000301873", "ENSEMBL:ENSP00000301873.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8N1L9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "basic leucine zipper transcriptional factor ATF-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1L9-1", "PR:Q8N1L9-1", "ENSEMBL:ENSP00000301887", "ENSEMBL:ENSP00000301887.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSA0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 22 member 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSA0-1", "PR:Q9NSA0-1", "ENSEMBL:ENSP00000301891", "ENSEMBL:ENSP00000301891.4"], "information_content": 100.0}
{"id": "UniProtKB:Q3KP22-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-anchored junction protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3KP22-3", "PR:Q3KP22-3", "ENSEMBL:ENSP00000301896", "ENSEMBL:ENSP00000301896.5", "ENSEMBL:ENSP00000395273", "ENSEMBL:ENSP00000395273.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6AZY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "scavenger receptor class A member 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6AZY7-1", "PR:Q6AZY7-1", "ENSEMBL:ENSP00000301904", "ENSEMBL:ENSP00000301904.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13519-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prepronociceptin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13519-1", "PR:Q13519-1", "ENSEMBL:ENSP00000301908", "ENSEMBL:ENSP00000301908.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BT81-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor SOX-7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BT81-1", "PR:Q9BT81-1", "ENSEMBL:ENSP00000301921", "ENSEMBL:ENSP00000301921.1", "ENSEMBL:ENSP00000495029", "ENSEMBL:ENSP00000495029.1"], "information_content": 100.0}
{"id": "MONDO:0012870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 2q31.2 deletion syndrome", "equivalent_identifiers": ["MONDO:0012870", "DOID:0060416", "OMIM:612345", "UMLS:C2676724", "MESH:C567344", "medgen:394109"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPQ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM35 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPQ4-1", "PR:Q9UPQ4-1", "ENSEMBL:ENSP00000301924", "ENSEMBL:ENSP00000301924.4"], "information_content": 100.0}
{"id": "MONDO:0012326", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 42", "equivalent_identifiers": ["MONDO:0012326", "DOID:0110500", "OMIM:609646", "UMLS:C1864818", "MESH:C566460", "medgen:351225"], "information_content": 100.0}
{"id": "NCBIGene:254863", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM256", "equivalent_identifiers": ["NCBIGene:254863", "ENSEMBL:ENSG00000205544", "HGNC:28618", "OMIM:617779", "UMLS:C1824453", "UniProtKB:Q8N2U0", "PR:Q8N2U0", "ENSEMBL:ENSP00000301939", "ENSEMBL:ENSP00000301939.3", "ENSEMBL:ENSP00000491711", "ENSEMBL:ENSP00000491711.1"], "information_content": 92.8}
{"id": "UniProtKB:Q9H6X2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anthrax toxin receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6X2-1", "PR:Q9H6X2-1", "ENSEMBL:ENSP00000301945", "ENSEMBL:ENSP00000301945.4"], "information_content": 95.4}
{"id": "MONDO:0009263", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GAPO syndrome", "equivalent_identifiers": ["MONDO:0009263", "DOID:0112249", "OMIM:230740", "orphanet:2067", "UMLS:C0406723", "MESH:C535642", "SNOMEDCT:721843003", "medgen:98034", "icd11.foundation:909165198"], "information_content": 100.0}
{"id": "MONDO:0004215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous anthrax", "equivalent_identifiers": ["MONDO:0004215", "DOID:7426", "UMLS:C0003177", "MESH:C531621", "MEDDRA:10011660", "SNOMEDCT:84980006", "medgen:1959", "icd11.foundation:2057984300", "ICD10:A22.0", "ICD9:022.0"], "information_content": 100.0}
{"id": "MONDO:0016595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inhalational anthrax", "equivalent_identifiers": ["MONDO:0016595", "DOID:0050160", "orphanet:247257", "UMLS:C0155866", "MESH:C571912", "MEDDRA:10035667", "MEDDRA:10035704", "MEDDRA:10037321", "SNOMEDCT:11389007", "SNOMEDCT:195902009", "medgen:57841"], "information_content": 100.0}
{"id": "MONDO:0850618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "injection anthrax", "equivalent_identifiers": ["MONDO:0850618", "DOID:0081239"], "information_content": 100.0}
{"id": "MONDO:0000654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign connective and soft tissue neoplasm", "equivalent_identifiers": ["MONDO:0000654", "DOID:0060123", "UMLS:C0347481", "NCIT:C53684", "medgen:83866"], "information_content": 57.3}
{"id": "UniProtKB:Q08AH1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-coenzyme A synthetase ACSM1, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08AH1-1", "PR:Q08AH1-1", "ENSEMBL:ENSP00000301956", "ENSEMBL:ENSP00000301956.3", "ENSEMBL:ENSP00000428047", "ENSEMBL:ENSP00000428047.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H9J4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 42 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9J4-2", "PR:Q9H9J4-2", "ENSEMBL:ENSP00000301962", "ENSEMBL:ENSP00000301962.5"], "information_content": 100.0}
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{"id": "UniProtKB:Q8NFW9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab effector MyRIP isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFW9-1", "PR:Q8NFW9-1", "ENSEMBL:ENSP00000301972", "ENSEMBL:ENSP00000301972.6", "ENSEMBL:ENSP00000398665", "ENSEMBL:ENSP00000398665.1"], "information_content": 100.0}
{"id": "MONDO:0014847", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 15", "equivalent_identifiers": ["MONDO:0014847", "DOID:0070172", "OMIM:616950", "UMLS:C4310779", "medgen:934746"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZY8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial fission factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZY8-1", "PR:Q9GZY8-1", "ENSEMBL:ENSP00000302037", "ENSEMBL:ENSP00000302037.4"], "information_content": 100.0}
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{"id": "UniProtKB:O95672-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endothelin-converting enzyme-like 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95672-1", "PR:O95672-1", "ENSEMBL:ENSP00000302051", "ENSEMBL:ENSP00000302051.1"], "information_content": 100.0}
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{"id": "NCBIGene:53354", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PANK1", "equivalent_identifiers": ["NCBIGene:53354", "ENSEMBL:ENSG00000152782", "HGNC:8598", "OMIM:606160", "UMLS:C1418263", "UniProtKB:A0A8C8KBT8", "ENSEMBL:ENSP00000302108", "ENSEMBL:ENSP00000302108.5", "UniProtKB:Q8TE04", "PR:Q8TE04", "UMLS:C1565595"]}
{"id": "NCBIGene:4255", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MGMT", "equivalent_identifiers": ["NCBIGene:4255", "ENSEMBL:ENSG00000170430", "HGNC:7059", "OMIM:156569", "UMLS:C1334505", "UniProtKB:B4DEE8", "ENSEMBL:ENSP00000302111", "ENSEMBL:ENSP00000302111.7", "UniProtKB:P16455", "PR:P16455", "ENSEMBL:ENSP00000498729", "ENSEMBL:ENSP00000498729.1", "UMLS:C1869171", "MESH:C515491"]}
{"id": "UniProtKB:Q9Y255-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PRELI domain-containing protein 1, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y255-1", "PR:Q9Y255-1", "ENSEMBL:ENSP00000302114", "ENSEMBL:ENSP00000302114.4"], "information_content": 100.0}
{"id": "NCBIGene:201799", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM154", "equivalent_identifiers": ["NCBIGene:201799", "ENSEMBL:ENSG00000170006", "HGNC:26489", "UMLS:C1823418", "UniProtKB:Q6P9G4", "PR:Q6P9G4", "ENSEMBL:ENSP00000302144", "ENSEMBL:ENSP00000302144.3", "UMLS:C4077687", "MESH:C000603438"], "information_content": 100.0}
{"id": "NCBIGene:5617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRL", "equivalent_identifiers": ["NCBIGene:5617", "ENSEMBL:ENSG00000172179", "HGNC:9445", "OMIM:176760", "UMLS:C1418938", "UniProtKB:P01236", "PR:P01236", "ENSEMBL:ENSP00000302150", "ENSEMBL:ENSP00000302150.1", "UMLS:C5441683", "UniProtKB:Q5I0G2", "ENSEMBL:ENSP00000480195", "ENSEMBL:ENSP00000480195.1", "UniProtKB:Q5THQ0"], "information_content": 95.4}
{"id": "MONDO:0006235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granular cell tumor", "equivalent_identifiers": ["MONDO:0006235", "DOID:2411", "EFO:1000284", "UMLS:C0085167", "UMLS:C2930931", "MESH:C535558", "MESH:D016586", "MEDDRA:10060980", "MEDDRA:10060982", "NCIT:C3474", "SNOMEDCT:404035005", "medgen:88345"], "information_content": 77.6}
{"id": "MONDO:0004258", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "female orgasmic disorder", "equivalent_identifiers": ["MONDO:0004258", "DOID:7518", "UMLS:C0033948", "UMLS:C4022677", "MEDDRA:10016405", "MEDDRA:10022032", "NCIT:C34958", "SNOMEDCT:60103007", "medgen:892329", "ICD10:F52.31", "ICD9:302.73", "HP:0030015"], "information_content": 100.0}
{"id": "NCBIGene:129642", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MBOAT2", "equivalent_identifiers": ["NCBIGene:129642", "ENSEMBL:ENSG00000143797", "HGNC:25193", "OMIM:611949", "UMLS:C1538505", "UniProtKB:B0AZU0", "UniProtKB:B7Z3I3", "UniProtKB:Q6ZWT7", "PR:Q6ZWT7", "ENSEMBL:ENSP00000302177", "ENSEMBL:ENSP00000302177.3", "UMLS:C2742256", "MESH:C544778"], "information_content": 90.9}
{"id": "NCBIGene:4807", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NHLH1", "equivalent_identifiers": ["NCBIGene:4807", "ENSEMBL:ENSG00000171786", "HGNC:7817", "OMIM:162360", "UMLS:C1417722", "UniProtKB:Q02575", "PR:Q02575", "ENSEMBL:ENSP00000302189", "ENSEMBL:ENSP00000302189.5", "UMLS:C0172411", "MESH:C076746", "UniProtKB:Q5T203"], "information_content": 95.4}
{"id": "UniProtKB:O95670-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-type proton ATPase subunit G 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95670-1", "PR:O95670-1", "ENSEMBL:ENSP00000302194", "ENSEMBL:ENSP00000302194.5", "ENSEMBL:ENSP00000372995", "ENSEMBL:ENSP00000372995.4", "ENSEMBL:ENSP00000395436", "ENSEMBL:ENSP00000395436.2", "ENSEMBL:ENSP00000406372", "ENSEMBL:ENSP00000406372.2", "ENSEMBL:ENSP00000406389", "ENSEMBL:ENSP00000406389.2", "ENSEMBL:ENSP00000408670", "ENSEMBL:ENSP00000408670.2", "ENSEMBL:ENSP00000413222", "ENSEMBL:ENSP00000413222.2"], "information_content": 100.0}
{"id": "MONDO:0014691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 9", "equivalent_identifiers": ["MONDO:0014691", "DOID:0060587", "OMIM:616559", "UMLS:C4225282", "NCIT:C176937", "medgen:896352"], "information_content": 100.0}
{"id": "NCBIGene:474", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATOH1", "equivalent_identifiers": ["NCBIGene:474", "ENSEMBL:ENSG00000172238", "HGNC:797", "OMIM:601461", "UMLS:C1412626", "UniProtKB:Q92858", "PR:Q92858", "ENSEMBL:ENSP00000302216", "ENSEMBL:ENSP00000302216.4", "UMLS:C1567779", "UMLS:C3811070", "MESH:C500942"], "information_content": 100.0}
{"id": "UniProtKB:Q96Q83-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q83-1", "PR:Q96Q83-1", "ENSEMBL:ENSP00000302232", "ENSEMBL:ENSP00000302232.4"], "information_content": 100.0}
{"id": "NCBIGene:6356", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL11", "equivalent_identifiers": ["NCBIGene:6356", "ENSEMBL:ENSG00000172156", "HGNC:10610", "OMIM:601156", "UMLS:C1332676", "UniProtKB:P51671", "PR:P51671", "ENSEMBL:ENSP00000302234", "ENSEMBL:ENSP00000302234.3", "UMLS:C1667077", "MESH:C515456", "UniProtKB:Q6I9T4"], "information_content": 88.2}
{"id": "NCBIGene:2637", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GBX2", "equivalent_identifiers": ["NCBIGene:2637", "ENSEMBL:ENSG00000168505", "HGNC:4186", "OMIM:601135", "UMLS:C1415007", "UniProtKB:F8VY47", "ENSEMBL:ENSP00000448747", "ENSEMBL:ENSP00000448747.1", "UMLS:C1672841", "MESH:C084958", "UniProtKB:P52951", "PR:P52951", "ENSEMBL:ENSP00000302251", "ENSEMBL:ENSP00000302251.4"], "information_content": 95.4}
{"id": "UniProtKB:Q8TAG6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vexin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAG6-1", "PR:Q8TAG6-1", "ENSEMBL:ENSP00000302260", "ENSEMBL:ENSP00000302260.3", "ENSEMBL:ENSP00000514189", "ENSEMBL:ENSP00000514189.1"], "information_content": 100.0}
{"id": "MONDO:0011307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizophrenia 2", "equivalent_identifiers": ["MONDO:0011307", "DOID:0070078", "OMIM:603342", "UMLS:C1864010", "medgen:350323"], "information_content": 100.0}
{"id": "NCBIGene:114900", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1QTNF4", "equivalent_identifiers": ["NCBIGene:114900", "ENSEMBL:ENSG00000172247", "HGNC:14346", "OMIM:614911", "UMLS:C1422582", "UniProtKB:Q9BXJ3", "PR:Q9BXJ3", "ENSEMBL:ENSP00000302274", "ENSEMBL:ENSP00000302274.3", "ENSEMBL:ENSP00000496508", "ENSEMBL:ENSP00000496508.1"], "information_content": 100.0}
{"id": "NCBIGene:124790", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HEXIM2", "equivalent_identifiers": ["NCBIGene:124790", "ENSEMBL:ENSG00000168517", "HGNC:28591", "OMIM:615695", "UMLS:C1825464", "UniProtKB:Q96MH2", "PR:Q96MH2", "ENSEMBL:ENSP00000302276", "ENSEMBL:ENSP00000302276.2", "ENSEMBL:ENSP00000464807", "ENSEMBL:ENSP00000464807.2", "ENSEMBL:ENSP00000465086", "ENSEMBL:ENSP00000465086.2", "ENSEMBL:ENSP00000465727", "ENSEMBL:ENSP00000465727.1", "ENSEMBL:ENSP00000466200", "ENSEMBL:ENSP00000466200.2", "ENSEMBL:ENSP00000467517", "ENSEMBL:ENSP00000467517.1", "ENSEMBL:ENSP00000468251", "ENSEMBL:ENSP00000468251.2", "ENSEMBL:ENSP00000468773", "ENSEMBL:ENSP00000468773.2", "UMLS:C1570274", "MESH:C501428"], "information_content": 100.0}
{"id": "UniProtKB:Q6PCB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "embigin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PCB8-1", "PR:Q6PCB8-1", "ENSEMBL:ENSP00000302289", "ENSEMBL:ENSP00000302289.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8N145-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat LGI family member 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N145-1", "PR:Q8N145-1", "ENSEMBL:ENSP00000302297", "ENSEMBL:ENSP00000302297.2"], "information_content": 100.0}
{"id": "UniProtKB:O14603-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PTPN13-like protein, Y-linked isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14603-1", "PR:O14603-1", "ENSEMBL:ENSP00000302319", "ENSEMBL:ENSP00000302319.1", "ENSEMBL:ENSP00000303300", "ENSEMBL:ENSP00000303300.1"], "information_content": 100.0}
{"id": "NCBIGene:6037", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNASE3", "equivalent_identifiers": ["NCBIGene:6037", "ENSEMBL:ENSG00000169397", "HGNC:10046", "OMIM:131398", "UMLS:C1419409", "UniProtKB:P12724", "PR:P12724", "ENSEMBL:ENSP00000302324", "ENSEMBL:ENSP00000302324.3", "UMLS:C1312650", "MESH:C479220"], "information_content": 86.3}
{"id": "UniProtKB:Q9Y3Y4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pygopus homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3Y4-1", "PR:Q9Y3Y4-1", "ENSEMBL:ENSP00000302327", "ENSEMBL:ENSP00000302327.6"], "information_content": 100.0}
{"id": "NCBIGene:92483", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LDHAL6B", "equivalent_identifiers": ["NCBIGene:92483", "ENSEMBL:ENSG00000171989", "HGNC:21481", "UMLS:C1537557", "UniProtKB:A0A140VJM9", "UniProtKB:Q9BYZ2", "PR:Q9BYZ2", "ENSEMBL:ENSP00000302393", "ENSEMBL:ENSP00000302393.4"], "information_content": 100.0}
{"id": "NCBIGene:140838", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NANP", "equivalent_identifiers": ["NCBIGene:140838", "ENSEMBL:ENSG00000170191", "HGNC:16140", "OMIM:610763", "UMLS:C1826346", "UniProtKB:Q8TBE9", "PR:Q8TBE9", "ENSEMBL:ENSP00000302441", "ENSEMBL:ENSP00000302441.3"], "information_content": 95.4}
{"id": "NCBIGene:51621", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLF13", "equivalent_identifiers": ["NCBIGene:51621", "ENSEMBL:ENSG00000169926", "HGNC:13672", "OMIM:605328", "UMLS:C1422139", "UniProtKB:Q9Y2Y9", "PR:Q9Y2Y9", "ENSEMBL:ENSP00000302456", "ENSEMBL:ENSP00000302456.3", "ENSEMBL:ENSP00000484904", "ENSEMBL:ENSP00000484904.1", "UMLS:C1438994", "MESH:C486423", "UniProtKB:X5DNR2"], "information_content": 100.0}
{"id": "NCBIGene:3316", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPB2", "equivalent_identifiers": ["NCBIGene:3316", "ENSEMBL:ENSG00000170276", "HGNC:5247", "OMIM:602179", "UMLS:C1415768", "UniProtKB:A8KAH6", "ENSEMBL:ENSP00000457706", "UMLS:C1432366", "MESH:C442250", "UniProtKB:Q16082", "PR:Q16082", "ENSEMBL:ENSP00000302476", "ENSEMBL:ENSP00000302476.3"], "information_content": 100.0}
{"id": "UniProtKB:P0DPB6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P0DPB6-1", "PR:P0DPB6-1", "ENSEMBL:ENSP00000302478", "ENSEMBL:ENSP00000302478.4"], "information_content": 100.0}
{"id": "UniProtKB:Q02750-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity mitogen-activated protein kinase kinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q02750-1", "PR:Q02750-1", "ENSEMBL:ENSP00000302486", "ENSEMBL:ENSP00000302486.5"], "information_content": 95.4}
{"id": "UniProtKB:O43683-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitotic checkpoint serine/threonine-protein kinase BUB1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43683-1", "PR:O43683-1", "ENSEMBL:ENSP00000302530", "ENSEMBL:ENSP00000302530.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8TC05-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear protein MDM1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TC05-1", "PR:Q8TC05-1", "ENSEMBL:ENSP00000302537", "ENSEMBL:ENSP00000302537.7"], "information_content": 100.0}
{"id": "UniProtKB:Q7LFL8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CXXC-type zinc finger protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7LFL8-1", "PR:Q7LFL8-1", "ENSEMBL:ENSP00000302543", "ENSEMBL:ENSP00000302543.3", "ENSEMBL:ENSP00000427379", "ENSEMBL:ENSP00000427379.1"], "information_content": 100.0}
{"id": "NCBIGene:3233", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXD4", "equivalent_identifiers": ["NCBIGene:3233", "ENSEMBL:ENSG00000170166", "HGNC:5138", "OMIM:142981", "UMLS:C1415689", "UniProtKB:P09016", "PR:P09016", "ENSEMBL:ENSP00000302548", "ENSEMBL:ENSP00000302548.3"], "information_content": 100.0}
{"id": "NCBIGene:392465", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLOD5", "equivalent_identifiers": ["NCBIGene:392465", "ENSEMBL:ENSG00000171433", "HGNC:33358", "OMIM:301112", "UMLS:C2239496", "UniProtKB:A6NK44", "PR:A6NK44", "ENSEMBL:ENSP00000302552", "ENSEMBL:ENSP00000302552.6"], "information_content": 100.0}
{"id": "MONDO:0010162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tyrosinemia type III", "equivalent_identifiers": ["MONDO:0010162", "DOID:0050727", "OMIM:276710", "orphanet:69723", "UMLS:C0268623", "MEDDRA:10069461", "MEDDRA:10069464", "SNOMEDCT:413356003", "SNOMEDCT:415764005", "medgen:78694"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXN2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 7 member A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXN2-1", "PR:Q9BXN2-1", "ENSEMBL:ENSP00000302569", "ENSEMBL:ENSP00000302569.8", "ENSEMBL:ENSP00000432876", "ENSEMBL:ENSP00000432876.1"], "information_content": 100.0}
{"id": "MONDO:0000306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichosporonosis", "equivalent_identifiers": ["MONDO:0000306", "DOID:0050290", "UMLS:C0343939", "MESH:D060586", "MEDDRA:10053461", "SNOMEDCT:240761008", "medgen:452453"], "information_content": 95.4}
{"id": "NCBIGene:157638", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRATD2", "equivalent_identifiers": ["NCBIGene:157638", "ENSEMBL:ENSG00000168672", "HGNC:24166", "OMIM:609483", "UMLS:C1825170", "UniProtKB:Q96KN1", "PR:Q96KN1", "ENSEMBL:ENSP00000302578", "ENSEMBL:ENSP00000302578.3", "ENSEMBL:ENSP00000498944", "ENSEMBL:ENSP00000498944.1", "UMLS:C3711836", "MESH:C585865"], "information_content": 100.0}
{"id": "UniProtKB:O95171-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sciellin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95171-1", "PR:O95171-1", "ENSEMBL:ENSP00000302579", "ENSEMBL:ENSP00000302579.5"], "information_content": 100.0}
{"id": "NCBIGene:25948", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KBTBD2", "equivalent_identifiers": ["NCBIGene:25948", "ENSEMBL:ENSG00000170852", "HGNC:21751", "OMIM:619393", "UMLS:C1427741", "UniProtKB:A0A024RA38", "UniProtKB:Q8IY47", "PR:Q8IY47", "ENSEMBL:ENSP00000302586", "ENSEMBL:ENSP00000302586.4"], "information_content": 100.0}
{"id": "NCBIGene:10690", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FUT9", "equivalent_identifiers": ["NCBIGene:10690", "ENSEMBL:ENSG00000172461", "HGNC:4020", "OMIM:606865", "UMLS:C1414870", "UniProtKB:Q5Q0U2", "UniProtKB:Q9Y231", "PR:Q9Y231", "ENSEMBL:ENSP00000302599", "ENSEMBL:ENSP00000302599.4", "UMLS:C1956765", "MESH:C519500"], "information_content": 95.4}
{"id": "NCBIGene:189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGXT", "equivalent_identifiers": ["NCBIGene:189", "ENSEMBL:ENSG00000172482", "HGNC:341", "OMIM:604285", "UMLS:C1412290", "UniProtKB:P21549", "PR:P21549", "ENSEMBL:ENSP00000302620", "ENSEMBL:ENSP00000302620.3", "UMLS:C3179310"], "information_content": 86.3}
{"id": "NCBIGene:116844", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRG1", "equivalent_identifiers": ["NCBIGene:116844", "ENSEMBL:ENSG00000171236", "HGNC:29480", "OMIM:611289", "UMLS:C1428862", "UniProtKB:P02750", "PR:P02750", "ENSEMBL:ENSP00000302621", "ENSEMBL:ENSP00000302621.4", "UMLS:C1448482", "MESH:C015246", "UniProtKB:Q68CK4"], "information_content": 87.2}
{"id": "NCBIGene:8313", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AXIN2", "equivalent_identifiers": ["NCBIGene:8313", "ENSEMBL:ENSG00000168646", "HGNC:904", "OMIM:604025", "UMLS:C1332126", "UniProtKB:B7ZKL5", "UniProtKB:E7ES00", "ENSEMBL:ENSP00000364854", "ENSEMBL:ENSP00000364854.5", "ENSEMBL:ENSP00000478916", "ENSEMBL:ENSP00000478916.1", "UniProtKB:Q9Y2T1", "PR:Q9Y2T1", "ENSEMBL:ENSP00000302625", "ENSEMBL:ENSP00000302625.5", "UMLS:C1454580", "MESH:C491761"], "information_content": 90.9}
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{"id": "NCBIGene:3175", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ONECUT1", "equivalent_identifiers": ["NCBIGene:3175", "ENSEMBL:ENSG00000169856", "HGNC:8138", "OMIM:604164", "UMLS:C1417951", "UniProtKB:Q9UBC0", "PR:Q9UBC0", "ENSEMBL:ENSP00000302630", "ENSEMBL:ENSP00000302630.4", "UMLS:C1565902", "MESH:C496605"], "information_content": 92.8}
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{"id": "UniProtKB:Q685J3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mucin-17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q685J3-1", "PR:Q685J3-1", "ENSEMBL:ENSP00000302716", "ENSEMBL:ENSP00000302716.4"], "information_content": 100.0}
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{"id": "UniProtKB:P08236-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-glucuronidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08236-1", "PR:P08236-1", "ENSEMBL:ENSP00000302728", "ENSEMBL:ENSP00000302728.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H074-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyadenylate-binding protein-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H074-1", "PR:Q9H074-1", "ENSEMBL:ENSP00000302768", "ENSEMBL:ENSP00000302768.3"], "information_content": 100.0}
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{"id": "UniProtKB:Q96QU8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exportin-6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QU8-1", "PR:Q96QU8-1", "ENSEMBL:ENSP00000302790", "ENSEMBL:ENSP00000302790.4"], "information_content": 100.0}
{"id": "NCBIGene:55006", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRMT61B", "equivalent_identifiers": ["NCBIGene:55006", "ENSEMBL:ENSG00000171103", "HGNC:26070", "OMIM:619404", "UMLS:C2680507", "UniProtKB:F8WDR2", "ENSEMBL:ENSP00000389617", "ENSEMBL:ENSP00000389617.1", "UniProtKB:Q9BVS5", "PR:Q9BVS5", "ENSEMBL:ENSP00000302801", "ENSEMBL:ENSP00000302801.5"], "information_content": 100.0}
{"id": "NCBIGene:414301", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDI1", "equivalent_identifiers": ["NCBIGene:414301", "ENSEMBL:ENSG00000170967", "HGNC:18961", "OMIM:620870", "UMLS:C1824900", "UniProtKB:Q8WTU0", "PR:Q8WTU0", "ENSEMBL:ENSP00000302805", "ENSEMBL:ENSP00000302805.3"], "information_content": 100.0}
{"id": "MONDO:0010964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiphyseal dysplasia, multiple, 3", "equivalent_identifiers": ["MONDO:0010964", "DOID:0070304", "OMIM:600969", "UMLS:C1832998", "UMLS:C3152083", "MESH:C535503", "medgen:322091"], "information_content": 100.0}
{"id": "NCBIGene:4543", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTNR1A", "equivalent_identifiers": ["NCBIGene:4543", "ENSEMBL:ENSG00000168412", "HGNC:7463", "OMIM:600665", "UMLS:C1417449", "UniProtKB:P48039", "PR:P48039", "ENSEMBL:ENSP00000302811", "ENSEMBL:ENSP00000302811.5", "ENSEMBL:ENSP00000515216", "ENSEMBL:ENSP00000515216.1", "UMLS:C4307829", "MESH:C000610981"], "information_content": 100.0}
{"id": "NCBIGene:23440", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTP", "equivalent_identifiers": ["NCBIGene:23440", "ENSEMBL:ENSG00000171540", "HGNC:8518", "OMIM:604529", "UMLS:C1418198", "UniProtKB:Q5XKR4", "PR:Q5XKR4", "ENSEMBL:ENSP00000302814", "ENSEMBL:ENSP00000302814.3", "UMLS:C1453179", "MESH:C490261"], "information_content": 95.4}
{"id": "MONDO:0005057", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "large cell neuroendocrine carcinoma", "equivalent_identifiers": ["MONDO:0005057", "DOID:0050872", "EFO:0000563", "UMLS:C1265996", "NCIT:C6875", "SNOMEDCT:128628002", "medgen:220402", "icd11.foundation:1278312485"], "information_content": 73.4}
{"id": "MONDO:0005454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung neuroendocrine neoplasm", "equivalent_identifiers": ["MONDO:0005454", "DOID:5410", "EFO:0005220", "UMLS:C1334452", "NCIT:C5670", "SNOMEDCT:707594002", "medgen:277303"], "information_content": 70.8}
{"id": "UniProtKB:Q7L5Y9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein transferase MAEA isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L5Y9-1", "PR:Q7L5Y9-1", "ENSEMBL:ENSP00000302830", "ENSEMBL:ENSP00000302830.4"], "information_content": 100.0}
{"id": "NCBIGene:170575", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GIMAP1", "equivalent_identifiers": ["NCBIGene:170575", "ENSEMBL:ENSG00000213203", "HGNC:23237", "OMIM:608084", "UMLS:C1539562", "UniProtKB:A0A090N8Z4", "UMLS:C1310446", "MESH:C450435", "UniProtKB:Q8WWP7", "PR:Q8WWP7", "ENSEMBL:ENSP00000302833", "ENSEMBL:ENSP00000302833.5"], "information_content": 100.0}
{"id": "NCBIGene:202052", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJC18", "equivalent_identifiers": ["NCBIGene:202052", "ENSEMBL:ENSG00000170464", "HGNC:28429", "OMIM:621108", "UMLS:C1824949", "UniProtKB:Q9H819", "PR:Q9H819", "ENSEMBL:ENSP00000302843", "ENSEMBL:ENSP00000302843.5"], "information_content": 100.0}
{"id": "NCBIGene:5734", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTGER4", "equivalent_identifiers": ["NCBIGene:5734", "ENSEMBL:ENSG00000171522", "HGNC:9596", "OMIM:601586", "UMLS:C1419064", "UniProtKB:A0PJF5", "UMLS:C1739015", "MESH:C545650", "UniProtKB:P35408", "PR:P35408", "ENSEMBL:ENSP00000302846", "ENSEMBL:ENSP00000302846.3", "UMLS:C4288359"], "information_content": 95.4}
{"id": "UniProtKB:Q9UHI7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 23 member 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHI7-2", "PR:Q9UHI7-2", "ENSEMBL:ENSP00000302851", "ENSEMBL:ENSP00000302851.5"], "information_content": 100.0}
{"id": "NCBIGene:129025", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF280A", "equivalent_identifiers": ["NCBIGene:129025", "ENSEMBL:ENSG00000169548", "HGNC:18597", "UMLS:C1425635", "UniProtKB:A0A0G2JN84", "UniProtKB:P59817", "PR:P59817", "ENSEMBL:ENSP00000302855", "ENSEMBL:ENSP00000302855.3", "ENSEMBL:ENSP00000480861", "ENSEMBL:ENSP00000480861.1"], "information_content": 100.0}
{"id": "MONDO:0014349", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 10", "equivalent_identifiers": ["MONDO:0014349", "DOID:0060279", "OMIM:615803", "orphanet:411493", "UMLS:C5190575", "SNOMEDCT:782720005", "medgen:1676575"], "information_content": 100.0}
{"id": "NCBIGene:390883", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR7G3", "equivalent_identifiers": ["NCBIGene:390883", "ENSEMBL:ENSG00000170920", "HGNC:8467", "UMLS:C1418165", "UniProtKB:A0A126GVR4", "UniProtKB:Q8NG95", "PR:Q8NG95", "ENSEMBL:ENSP00000302867", "ENSEMBL:ENSP00000302867.2"], "information_content": 100.0}
{"id": "MONDO:0007434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary failure of tooth eruption", "equivalent_identifiers": ["MONDO:0007434", "DOID:0111341", "OMIM:125350", "orphanet:412206", "UMLS:C1852222", "MESH:C565114", "SNOMEDCT:1231153007", "medgen:338882"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQ80-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proliferation-associated protein 2G4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ80-1", "PR:Q9UQ80-1", "ENSEMBL:ENSP00000302886", "ENSEMBL:ENSP00000302886.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQB9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aurora kinase C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQB9-1", "PR:Q9UQB9-1", "ENSEMBL:ENSP00000302898", "ENSEMBL:ENSP00000302898.6"], "information_content": 100.0}
{"id": "NCBIGene:53342", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL17D", "equivalent_identifiers": ["NCBIGene:53342", "ENSEMBL:ENSG00000172458", "HGNC:5984", "OMIM:607587", "UMLS:C1416390", "UniProtKB:Q8TAD2", "PR:Q8TAD2", "ENSEMBL:ENSP00000302924", "ENSEMBL:ENSP00000302924.3", "ENSEMBL:ENSP00000508385", "ENSEMBL:ENSP00000508385.1", "UMLS:C1142880", "MESH:C464462"], "information_content": 100.0}
{"id": "NCBIGene:3603", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL16", "equivalent_identifiers": ["NCBIGene:3603", "ENSEMBL:ENSG00000172349", "HGNC:5980", "OMIM:603035", "UMLS:C1334106", "UniProtKB:A0A8C8KBU6", "ENSEMBL:ENSP00000302935", "ENSEMBL:ENSP00000302935.5", "UniProtKB:Q14005", "PR:Q14005", "UMLS:C3887687", "UMLS:C3888288", "UniProtKB:Q9UME6"]}
{"id": "UniProtKB:P34932-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heat shock 70 kDa protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P34932-1", "PR:P34932-1", "ENSEMBL:ENSP00000302961", "ENSEMBL:ENSP00000302961.2"], "information_content": 100.0}
{"id": "UniProtKB:O15379-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone deacetylase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15379-1", "PR:O15379-1", "ENSEMBL:ENSP00000302967", "ENSEMBL:ENSP00000302967.3"], "information_content": 92.8}
{"id": "UniProtKB:Q9Y6F8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis-specific chromodomain protein Y 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6F8-2", "PR:Q9Y6F8-2", "ENSEMBL:ENSP00000302968", "ENSEMBL:ENSP00000302968.4", "ENSEMBL:ENSP00000303178", "ENSEMBL:ENSP00000303178.4"], "information_content": 100.0}
{"id": "NCBIGene:10251", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPRY3", "equivalent_identifiers": ["NCBIGene:10251", "ENSEMBL:ENSG00000168939", "HGNC:11271", "OMIM:300531", "UMLS:C1420384", "UniProtKB:O43610", "PR:O43610", "ENSEMBL:ENSP00000302978", "ENSEMBL:ENSP00000302978.2", "ENSEMBL:ENSP00000502489", "ENSEMBL:ENSP00000502489.1", "ENSEMBL:ENSP00000511806", "ENSEMBL:ENSP00000511806.1", "UMLS:C1438922", "MESH:C407225", "UniProtKB:Q6ZUP3"], "information_content": 100.0}
{"id": "MONDO:0010565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Protanomaly", "equivalent_identifiers": ["MONDO:0010565", "DOID:13910", "OMIM:303900", "EFO:0005580", "UMLS:C0155015", "UMLS:C3887980", "MEDDRA:10036986", "SNOMEDCT:51445007", "medgen:56350", "ICD9:368.51", "HP:0200018"], "information_content": 100.0}
{"id": "NCBIGene:8233", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZRSR2", "equivalent_identifiers": ["NCBIGene:8233", "ENSEMBL:ENSG00000169249", "HGNC:23019", "OMIM:300028", "UMLS:C1824082", "UniProtKB:A0A8I5KSD0", "ENSEMBL:ENSP00000510773", "ENSEMBL:ENSP00000510773.1", "UniProtKB:Q15696", "PR:Q15696", "ENSEMBL:ENSP00000303015", "ENSEMBL:ENSP00000303015.7", "UMLS:C1435016", "MESH:C484334"], "information_content": 100.0}
{"id": "NCBIGene:79853", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TM4SF20", "equivalent_identifiers": ["NCBIGene:79853", "ENSEMBL:ENSG00000168955", "HGNC:26230", "OMIM:615404", "UMLS:C1539976", "UniProtKB:Q53R12", "PR:Q53R12", "ENSEMBL:ENSP00000303028", "ENSEMBL:ENSP00000303028.3", "UMLS:C3710648", "MESH:C585005"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4X5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin filament-associated protein 1-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4X5-1", "PR:Q8N4X5-1", "ENSEMBL:ENSP00000303042", "ENSEMBL:ENSP00000303042.4"], "information_content": 100.0}
{"id": "NCBIGene:5480", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPIC", "equivalent_identifiers": ["NCBIGene:5480", "ENSEMBL:ENSG00000168938", "HGNC:9256", "OMIM:123842", "UMLS:C1418796", "UniProtKB:P45877", "PR:P45877", "ENSEMBL:ENSP00000303057", "ENSEMBL:ENSP00000303057.4"], "information_content": 95.4}
{"id": "UniProtKB:Q8N960-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 120 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N960-1", "PR:Q8N960-1", "ENSEMBL:ENSP00000303058", "ENSEMBL:ENSP00000303058.6", "ENSEMBL:ENSP00000327504", "ENSEMBL:ENSP00000327504.5"], "information_content": 100.0}
{"id": "NCBIGene:170626", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XAGE3", "equivalent_identifiers": ["NCBIGene:170626", "ENSEMBL:ENSG00000171402", "HGNC:14618", "OMIM:300740", "UMLS:C1538120", "UniProtKB:Q8WTP9", "PR:Q8WTP9", "ENSEMBL:ENSP00000303061", "ENSEMBL:ENSP00000303061.3", "ENSEMBL:ENSP00000364640", "ENSEMBL:ENSP00000364640.3", "UMLS:C2826591"], "information_content": 100.0}
{"id": "NCBIGene:10648", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCGB1D1", "equivalent_identifiers": ["NCBIGene:10648", "ENSEMBL:ENSG00000168515", "HGNC:18395", "OMIM:615060", "UMLS:C1425494", "UniProtKB:O95968", "PR:O95968", "ENSEMBL:ENSP00000303070", "ENSEMBL:ENSP00000303070.3", "UMLS:C1434617", "MESH:C556463"], "information_content": 100.0}
{"id": "NCBIGene:137362", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOT1L1", "equivalent_identifiers": ["NCBIGene:137362", "ENSEMBL:ENSG00000169154", "HGNC:28487", "UMLS:C1825393", "UniProtKB:Q8NHS2", "PR:Q8NHS2", "ENSEMBL:ENSP00000303077", "ENSEMBL:ENSP00000303077.4"], "information_content": 100.0}
{"id": "MONDO:0009673", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy, type II", "equivalent_identifiers": ["MONDO:0009673", "DOID:0050530", "DOID:0060160", "OMIM:253550", "orphanet:83418", "UMLS:C0393538", "UMLS:C0700595", "UMLS:C2931358", "MESH:C536879", "MESH:D014897", "MEDDRA:10079416", "NCIT:C156310", "NCIT:C85076", "SNOMEDCT:128212001", "medgen:95975", "icd11.foundation:867148636"], "information_content": 92.8}
{"id": "NCBIGene:10972", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMED10", "equivalent_identifiers": ["NCBIGene:10972", "ENSEMBL:ENSG00000170348", "HGNC:16998", "OMIM:605406", "UMLS:C1823301", "UniProtKB:A0A024R6I3", "UMLS:C1436050", "MESH:C484395", "UniProtKB:P49755", "PR:P49755", "ENSEMBL:ENSP00000303145", "ENSEMBL:ENSP00000303145.4"], "information_content": 88.2}
{"id": "UniProtKB:P31153-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "S-adenosylmethionine synthase isoform type-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P31153-1", "PR:P31153-1", "ENSEMBL:ENSP00000303147", "ENSEMBL:ENSP00000303147.3"], "information_content": 100.0}
{"id": "NCBIGene:140738", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM37", "equivalent_identifiers": ["NCBIGene:140738", "ENSEMBL:ENSG00000171227", "HGNC:18216", "OMIM:618831", "UMLS:C1540007", "UniProtKB:E7EMC0", "ENSEMBL:ENSP00000387015", "ENSEMBL:ENSP00000387015.1", "UniProtKB:Q86SV2", "UniProtKB:Q8WXS4", "PR:Q8WXS4", "ENSEMBL:ENSP00000303148", "ENSEMBL:ENSP00000303148.4", "UMLS:C4085567"], "information_content": 100.0}
{"id": "MONDO:0005870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "necatoriasis", "equivalent_identifiers": ["MONDO:0005870", "DOID:2790", "EFO:0007390", "UMLS:C0027528", "MESH:D009332", "NCIT:C34838", "SNOMEDCT:36667009", "medgen:10277", "icd11.foundation:652000933", "ICD10:B76.1"], "information_content": 100.0}
{"id": "NCBIGene:2850", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR27", "equivalent_identifiers": ["NCBIGene:2850", "ENSEMBL:ENSG00000170837", "HGNC:4482", "OMIM:605187", "UMLS:C1415220", "UniProtKB:F1DAM3", "UMLS:C5882197", "MESH:C000730083", "UniProtKB:Q9NS67", "PR:Q9NS67", "ENSEMBL:ENSP00000303149", "ENSEMBL:ENSP00000303149.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XXII) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFW1-1", "PR:Q8NFW1-1", "ENSEMBL:ENSP00000303153", "ENSEMBL:ENSP00000303153.6"], "information_content": 100.0}
{"id": "NCBIGene:83987", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC8", "equivalent_identifiers": ["NCBIGene:83987", "ENSEMBL:ENSG00000169515", "HGNC:25367", "OMIM:614145", "UMLS:C1428477", "UniProtKB:G8IFA7", "UMLS:C3253300", "MESH:C569196", "UniProtKB:Q9H0W5", "PR:Q9H0W5", "ENSEMBL:ENSP00000303158", "ENSEMBL:ENSP00000303158.3"], "information_content": 100.0}
{"id": "MONDO:0000859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spina bifida occulta", "equivalent_identifiers": ["MONDO:0000859", "DOID:0080073", "orphanet:645202", "UMLS:C0080174", "MESH:D016136", "MEDDRA:10009650", "MEDDRA:10041525", "NCIT:C101044", "SNOMEDCT:76916001", "medgen:36380", "icd11.foundation:449489594", "HP:0003298"], "information_content": 79.6}
{"id": "UniProtKB:P19224-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 1A6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P19224-1", "PR:P19224-1", "ENSEMBL:ENSP00000303174", "ENSEMBL:ENSP00000303174.6"], "information_content": 100.0}
{"id": "MONDO:0008915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malouf syndrome", "equivalent_identifiers": ["MONDO:0008915", "DOID:0111584", "OMIM:212112", "orphanet:2229", "UMLS:C0796031", "UMLS:C0796083", "MESH:C535580", "MESH:C535703", "NCIT:C174217", "SNOMEDCT:719451006", "medgen:162901"], "information_content": 100.0}
{"id": "MONDO:0002601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "teratoma", "equivalent_identifiers": ["MONDO:0002601", "DOID:3307", "UMLS:C0039538", "MESH:D013724", "MEDDRA:10043276", "MEDDRA:10043277", "NCIT:C3403", "SNOMEDCT:1187393008", "SNOMEDCT:36591000119102", "SNOMEDCT:55818009", "medgen:21097", "HP:0009792"], "information_content": 68.0}
{"id": "UniProtKB:Q9NZL6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ral guanine nucleotide dissociation stimulator-like 1 isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q9NZL6-2", "PR:Q9NZL6-2", "ENSEMBL:ENSP00000303192", "ENSEMBL:ENSP00000303192.3"], "information_content": 100.0}
{"id": "NCBIGene:5968", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "REG1B", "equivalent_identifiers": ["NCBIGene:5968", "ENSEMBL:ENSG00000172023", "HGNC:9952", "OMIM:167771", "UMLS:C1419334", "UniProtKB:P48304", "PR:P48304", "ENSEMBL:ENSP00000303206", "ENSEMBL:ENSP00000303206.3", "UMLS:C1307266", "MESH:C497618", "UniProtKB:Q6ICS1"], "information_content": 87.2}
{"id": "UniProtKB:Q8NBP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proprotein convertase subtilisin/kexin type 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBP7-1", "PR:Q8NBP7-1", "ENSEMBL:ENSP00000303208", "ENSEMBL:ENSP00000303208.5"], "information_content": 100.0}
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{"id": "UniProtKB:P22303-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetylcholinesterase isoform H (human)", "equivalent_identifiers": ["UniProtKB:P22303-2", "PR:P22303-2", "ENSEMBL:ENSP00000303211", "ENSEMBL:ENSP00000303211.4", "ENSEMBL:ENSP00000404865", "ENSEMBL:ENSP00000404865.1"], "information_content": 100.0}
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{"id": "UniProtKB:Q8WYK0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetyl-coenzyme A thioesterase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYK0-1", "PR:Q8WYK0-1", "ENSEMBL:ENSP00000303246", "ENSEMBL:ENSP00000303246.3"], "information_content": 100.0}
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{"id": "NCBIGene:6870", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TACR3", "equivalent_identifiers": ["NCBIGene:6870", "ENSEMBL:ENSG00000169836", "HGNC:11528", "OMIM:162332", "UMLS:C1420567", "UniProtKB:P29371", "PR:P29371", "ENSEMBL:ENSP00000303325", "ENSEMBL:ENSP00000303325.2", "UMLS:C1368102", "MESH:C000601381"], "information_content": 95.4}
{"id": "NCBIGene:51181", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCXR", "equivalent_identifiers": ["NCBIGene:51181", "ENSEMBL:ENSG00000169738", "HGNC:18985", "OMIM:608347", "UMLS:C1425932", "UniProtKB:A0A384NY14", "UMLS:C1432906", "UniProtKB:Q7Z4W1", "PR:Q7Z4W1", "ENSEMBL:ENSP00000303356", "ENSEMBL:ENSP00000303356.2"], "information_content": 84.8}
{"id": "MONDO:0001833", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lacrimal duct obstruction", "equivalent_identifiers": ["MONDO:0001833", "DOID:13929", "UMLS:C0022906", "UMLS:C1281931", "MESH:D007767", "MEDDRA:10023622", "MEDDRA:10023626", "NCIT:C34757", "SNOMEDCT:246865000", "SNOMEDCT:314022009", "SNOMEDCT:416920000", "medgen:226915", "HP:0000579"], "information_content": 90.9}
{"id": "UniProtKB:P04908", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H2A1B_HUMAN Histone H2A type 1-B/E (sprot)", "equivalent_identifiers": ["UniProtKB:P04908", "PR:P04908", "ENSEMBL:ENSP00000303373", "ENSEMBL:ENSP00000303373.2", "ENSEMBL:ENSP00000483842", "ENSEMBL:ENSP00000483842.2", "ENSEMBL:ENSP00000520870", "ENSEMBL:ENSP00000520870.1", "UMLS:C5202681"], "information_content": 79.0}
{"id": "NCBIGene:8988", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPB3", "equivalent_identifiers": ["NCBIGene:8988", "ENSEMBL:ENSG00000169271", "HGNC:5248", "OMIM:604624", "UMLS:C1415769", "UniProtKB:Q12988", "PR:Q12988", "ENSEMBL:ENSP00000303394", "ENSEMBL:ENSP00000303394.1", "UMLS:C0761597", "MESH:C116424", "UniProtKB:Q6ICS9"], "information_content": 100.0}
{"id": "UniProtKB:Q96DY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Mdm2-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DY7-1", "PR:Q96DY7-1", "ENSEMBL:ENSP00000303398", "ENSEMBL:ENSP00000303398.1"], "information_content": 100.0}
{"id": "UniProtKB:P49354-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49354-1", "PR:P49354-1", "ENSEMBL:ENSP00000303423", "ENSEMBL:ENSP00000303423.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13258-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostaglandin D2 receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13258-1", "PR:Q13258-1", "ENSEMBL:ENSP00000303424", "ENSEMBL:ENSP00000303424.2"], "information_content": 100.0}
{"id": "UniProtKB:Q29RF7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sister chromatid cohesion protein PDS5 homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q29RF7-1", "PR:Q29RF7-1", "ENSEMBL:ENSP00000303427", "ENSEMBL:ENSP00000303427.8"], "information_content": 100.0}
{"id": "UniProtKB:Q8NB14-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 38 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NB14-1", "PR:Q8NB14-1", "ENSEMBL:ENSP00000303434", "ENSEMBL:ENSP00000303434.4"], "information_content": 100.0}
{"id": "NCBIGene:203062", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSNARE1", "equivalent_identifiers": ["NCBIGene:203062", "ENSEMBL:ENSG00000171045", "HGNC:26437", "OMIM:620986", "UMLS:C1823518", "UniProtKB:A0AVG3", "ENSEMBL:ENSP00000303437", "ENSEMBL:ENSP00000303437.4", "ENSEMBL:ENSP00000427770", "ENSEMBL:ENSP00000427770.2", "UniProtKB:E5RHT3", "ENSEMBL:ENSP00000429679", "ENSEMBL:ENSP00000429679.1", "UMLS:C4077029", "MESH:C000605008", "UniProtKB:Q6P186", "UniProtKB:Q96NA8", "PR:Q96NA8"]}
{"id": "NCBIGene:7200", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRH", "equivalent_identifiers": ["NCBIGene:7200", "ENSEMBL:ENSG00000170893", "HGNC:12298", "OMIM:613879", "UMLS:C1421143", "UniProtKB:P20396", "PR:P20396", "ENSEMBL:ENSP00000303452", "ENSEMBL:ENSP00000303452.3", "UMLS:C2713581", "UMLS:C4520836", "UMLS:C4521441"], "information_content": 100.0}
{"id": "UniProtKB:Q9H5U6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H5U6-1", "PR:Q9H5U6-1", "ENSEMBL:ENSP00000303468", "ENSEMBL:ENSP00000303468.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6H4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor expression-enhancing protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6H4-1", "PR:Q9H6H4-1", "ENSEMBL:ENSP00000303482", "ENSEMBL:ENSP00000303482.3"], "information_content": 100.0}
{"id": "MONDO:0011728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharospasm", "equivalent_identifiers": ["MONDO:0011728", "DOID:529", "UMLS:C0005747", "UMLS:C2930898", "MESH:C535428", "MESH:D001764", "MEDDRA:10005159", "MEDDRA:10041384", "MEDDRA:10064261", "NCIT:C118723", "SNOMEDCT:59026006", "medgen:419660", "icd11.foundation:1127235959", "ICD10:G24.5", "ICD9:333.81", "HP:0000643"], "information_content": 95.4}
{"id": "MONDO:0000481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Torticollis", "equivalent_identifiers": ["MONDO:0000481", "DOID:0050840", "UMLS:C0040485", "UMLS:C0152116", "UMLS:C0949445", "MESH:D014103", "MEDDRA:10041407", "MEDDRA:10044074", "MEDDRA:10044078", "MEDDRA:10048058", "MEDDRA:10048059", "MEDDRA:10064124", "NCIT:C182201", "NCIT:C85072", "SNOMEDCT:270476009", "SNOMEDCT:74333002", "medgen:101818", "icd11.foundation:632668568", "HP:0000473"], "information_content": 95.4}
{"id": "NCBIGene:375444", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C5orf34", "equivalent_identifiers": ["NCBIGene:375444", "ENSEMBL:ENSG00000172244", "HGNC:24738", "UMLS:C1824194", "UniProtKB:Q96MH7", "PR:Q96MH7", "ENSEMBL:ENSP00000303490", "ENSEMBL:ENSP00000303490.2", "UMLS:C5196974", "MESH:C000630632"], "information_content": 89.4}
{"id": "MONDO:0005406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gestational diabetes", "equivalent_identifiers": ["MONDO:0005406", "DOID:11714", "EFO:0004593", "UMLS:C0085207", "UMLS:C4020778", "MESH:D016640", "MEDDRA:10012606", "MEDDRA:10018209", "MEDDRA:10018210", "NCIT:C34942", "SNOMEDCT:11687002", "medgen:38815", "ICD10:O24.4", "HP:0009800"], "information_content": 92.8}
{"id": "MONDO:0012924", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 4", "equivalent_identifiers": ["MONDO:0012924", "DOID:0111890", "OMIM:612527", "UMLS:C2675860", "MESH:C567281", "NCIT:C176913", "medgen:393906"], "information_content": 100.0}
{"id": "UniProtKB:P11274-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "breakpoint cluster region protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11274-1", "PR:P11274-1", "ENSEMBL:ENSP00000303507", "ENSEMBL:ENSP00000303507.8"], "information_content": 100.0}
{"id": "UniProtKB:A2A2Y4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FERM domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2A2Y4-1", "PR:A2A2Y4-1", "ENSEMBL:ENSP00000303508", "ENSEMBL:ENSP00000303508.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13608-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal ATPase PEX6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13608-1", "PR:Q13608-1", "ENSEMBL:ENSP00000303511", "ENSEMBL:ENSP00000303511.8"], "information_content": 100.0}
{"id": "UniProtKB:P25103-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "substance-P receptor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P25103-1", "PR:P25103-1", "ENSEMBL:ENSP00000303522", "ENSEMBL:ENSP00000303522.4"], "information_content": 100.0}
{"id": "MONDO:0000367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "taeniasis", "equivalent_identifiers": ["MONDO:0000367", "DOID:0050596", "EFO:1001433", "UMLS:C0039254", "UMLS:C0152073", "MESH:D013622", "MEDDRA:10004201", "MEDDRA:10043092", "MEDDRA:10043095", "MEDDRA:10043096", "NCIT:C85180", "SNOMEDCT:69163003", "SNOMEDCT:76172008", "medgen:11701", "icd11.foundation:733748279", "ICD10:B68.1", "ICD9:123.2"], "information_content": 92.8}
{"id": "UniProtKB:Q8N4T8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3-oxoacyl-[acyl-carrier-protein] reductase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4T8-1", "PR:Q8N4T8-1", "ENSEMBL:ENSP00000303525", "ENSEMBL:ENSP00000303525.3"], "information_content": 100.0}
{"id": "MONDO:0013802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile cerebellar-retinal degeneration", "equivalent_identifiers": ["MONDO:0013802", "DOID:0050883", "OMIM:614559", "orphanet:313850", "UMLS:C3281192", "SNOMEDCT:782822006", "medgen:482822"], "information_content": 100.0}
{"id": "MONDO:0001957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "critical illness polyneuropathy", "equivalent_identifiers": ["MONDO:0001957", "DOID:14402", "UMLS:C0393851", "MEDDRA:10066336", "NCIT:C191601", "SNOMEDCT:230594005", "medgen:140748", "ICD10:G62.81", "ICD9:357.82"], "information_content": 100.0}
{"id": "UniProtKB:O15263", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DFB4A_HUMAN Defensin beta 4A (sprot)", "equivalent_identifiers": ["UniProtKB:O15263", "PR:O15263", "ENSEMBL:ENSP00000303532", "ENSEMBL:ENSP00000303532.2", "ENSEMBL:ENSP00000424598", "ENSEMBL:ENSP00000424598.1", "ENSEMBL:ENSP00000479138", "ENSEMBL:ENSP00000479138.1", "ENSEMBL:ENSP00000493760", "ENSEMBL:ENSP00000493760.1", "ENSEMBL:ENSP00000496499", "ENSEMBL:ENSP00000496499.1"], "information_content": 100.0}
{"id": "NCBIGene:7697", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF138", "equivalent_identifiers": ["NCBIGene:7697", "ENSEMBL:ENSG00000197008", "HGNC:12922", "OMIM:604080", "UMLS:C1421630", "UniProtKB:A0A0A0MRG3", "ENSEMBL:ENSP00000352770", "ENSEMBL:ENSP00000352770.4", "UniProtKB:A0A0A0MT90", "ENSEMBL:ENSP00000419197", "ENSEMBL:ENSP00000419197.1", "UniProtKB:A2RRP7", "UniProtKB:C9JHF6", "ENSEMBL:ENSP00000415995", "ENSEMBL:ENSP00000415995.1", "UniProtKB:E7EWC5", "ENSEMBL:ENSP00000399528", "ENSEMBL:ENSP00000399528.1", "UniProtKB:J3QSS9", "ENSEMBL:ENSP00000303533", "ENSEMBL:ENSP00000303533.7", "UniProtKB:P52744", "PR:P52744"]}
{"id": "UniProtKB:P35498-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium channel protein type 1 subunit alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35498-1", "PR:P35498-1", "ENSEMBL:ENSP00000303540", "ENSEMBL:ENSP00000303540.4", "ENSEMBL:ENSP00000501589", "ENSEMBL:ENSP00000501589.1"], "information_content": 100.0}
{"id": "NCBIGene:27197", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR82", "equivalent_identifiers": ["NCBIGene:27197", "ENSEMBL:ENSG00000171657", "HGNC:4533", "OMIM:300748", "UMLS:C1415264", "UniProtKB:Q96P67", "PR:Q96P67", "ENSEMBL:ENSP00000303549", "ENSEMBL:ENSP00000303549.4"], "information_content": 100.0}
{"id": "NCBIGene:54360", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYTL1", "equivalent_identifiers": ["NCBIGene:54360", "ENSEMBL:ENSG00000170891", "HGNC:24435", "OMIM:607930", "UMLS:C1539216", "UniProtKB:Q9NRR1", "PR:Q9NRR1", "ENSEMBL:ENSP00000303550", "ENSEMBL:ENSP00000303550.4", "UMLS:C1309607", "MESH:C412483"], "information_content": 95.4}
{"id": "NCBIGene:57037", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKMY2", "equivalent_identifiers": ["NCBIGene:57037", "ENSEMBL:ENSG00000106524", "HGNC:25370", "UMLS:C1428478", "UniProtKB:Q8IV38", "PR:Q8IV38", "ENSEMBL:ENSP00000303570", "ENSEMBL:ENSP00000303570.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BW91-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribose pyrophosphatase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BW91-1", "PR:Q9BW91-1", "ENSEMBL:ENSP00000303575", "ENSEMBL:ENSP00000303575.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9NYR9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NF-kappa-B inhibitor-interacting Ras-like protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYR9-1", "PR:Q9NYR9-1", "ENSEMBL:ENSP00000303580", "ENSEMBL:ENSP00000303580.5", "ENSEMBL:ENSP00000377458", "ENSEMBL:ENSP00000377458.1", "ENSEMBL:ENSP00000377459", "ENSEMBL:ENSP00000377459.3", "ENSEMBL:ENSP00000377463", "ENSEMBL:ENSP00000377463.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5N5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methyltransferase N6AMT1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5N5-1", "PR:Q9Y5N5-1", "ENSEMBL:ENSP00000303584", "ENSEMBL:ENSP00000303584.5", "ENSEMBL:ENSP00000436490", "ENSEMBL:ENSP00000436490.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96LI6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heat shock transcription factor, Y-linked isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LI6-1", "PR:Q96LI6-1", "ENSEMBL:ENSP00000303599", "ENSEMBL:ENSP00000303599.2", "ENSEMBL:ENSP00000306549", "ENSEMBL:ENSP00000306549.3"], "information_content": 100.0}
{"id": "UniProtKB:Q14114-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "low-density lipoprotein receptor-related protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14114-1", "PR:Q14114-1", "ENSEMBL:ENSP00000303634", "ENSEMBL:ENSP00000303634.6"], "information_content": 100.0}
{"id": "NCBIGene:23620", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NTSR2", "equivalent_identifiers": ["NCBIGene:23620", "ENSEMBL:ENSG00000169006", "HGNC:8040", "OMIM:605538", "UMLS:C1417871", "UniProtKB:O95665", "PR:O95665", "ENSEMBL:ENSP00000303686", "ENSEMBL:ENSP00000303686.5", "UMLS:C1453807", "MESH:C490985"], "information_content": 100.0}
{"id": "NCBIGene:126295", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF57", "equivalent_identifiers": ["NCBIGene:126295", "ENSEMBL:ENSG00000171970", "HGNC:13125", "UMLS:C1421812", "UniProtKB:B4DXX0", "UniProtKB:G3V131", "ENSEMBL:ENSP00000430223", "ENSEMBL:ENSP00000430223.1", "UniProtKB:Q68EA5", "PR:Q68EA5", "ENSEMBL:ENSP00000303696", "ENSEMBL:ENSP00000303696.5"], "information_content": 95.4}
{"id": "MONDO:0010471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornelia de Lange syndrome 5", "equivalent_identifiers": ["MONDO:0010471", "DOID:0080509", "OMIM:300882", "UMLS:C3550903", "medgen:763817"], "information_content": 100.0}
{"id": "UniProtKB:P30304-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M-phase inducer phosphatase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30304-1", "PR:P30304-1", "ENSEMBL:ENSP00000303706", "ENSEMBL:ENSP00000303706.3"], "information_content": 100.0}
{"id": "UniProtKB:P51965-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 E1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P51965-1", "PR:P51965-1", "ENSEMBL:ENSP00000303709", "ENSEMBL:ENSP00000303709.3"], "information_content": 100.0}
{"id": "NCBIGene:5481", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPID", "equivalent_identifiers": ["NCBIGene:5481", "ENSEMBL:ENSG00000171497", "HGNC:9257", "OMIM:601753", "UMLS:C1418797", "UniProtKB:E5KN55", "UniProtKB:Q08752", "PR:Q08752", "ENSEMBL:ENSP00000303754", "ENSEMBL:ENSP00000303754.3", "UMLS:C1431473", "MESH:C114456"], "information_content": 90.9}
{"id": "UniProtKB:Q86V48-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine zipper protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86V48-1", "PR:Q86V48-1", "ENSEMBL:ENSP00000303758", "ENSEMBL:ENSP00000303758.4", "ENSEMBL:ENSP00000428061", "ENSEMBL:ENSP00000428061.2", "ENSEMBL:ENSP00000429657", "ENSEMBL:ENSP00000429657.2", "ENSEMBL:ENSP00000516586", "ENSEMBL:ENSP00000516586.2", "ENSEMBL:ENSP00000518969", "ENSEMBL:ENSP00000518969.1"], "information_content": 100.0}
{"id": "UniProtKB:P83110-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine protease HTRA3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P83110-1", "PR:P83110-1", "ENSEMBL:ENSP00000303766", "ENSEMBL:ENSP00000303766.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z591-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule organization protein AKNA isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z591-1", "PR:Q7Z591-1", "ENSEMBL:ENSP00000303769", "ENSEMBL:ENSP00000303769.4", "ENSEMBL:ENSP00000363201", "ENSEMBL:ENSP00000363201.3"], "information_content": 100.0}
{"id": "NCBIGene:10887", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PROKR1", "equivalent_identifiers": ["NCBIGene:10887", "ENSEMBL:ENSG00000169618", "HGNC:4524", "OMIM:607122", "UMLS:C1826704", "UniProtKB:Q8TCW9", "PR:Q8TCW9", "ENSEMBL:ENSP00000303775", "ENSEMBL:ENSP00000303775.4", "UMLS:C1173926", "MESH:C470837"], "information_content": 100.0}
{"id": "NCBIGene:56156", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX13B", "equivalent_identifiers": ["NCBIGene:56156", "ENSEMBL:ENSG00000170925", "HGNC:11736", "OMIM:300313", "UMLS:C1420693", "UniProtKB:Q9BXU2", "PR:Q9BXU2", "ENSEMBL:ENSP00000303777", "ENSEMBL:ENSP00000303777.1"], "information_content": 100.0}
{"id": "UniProtKB:P06213-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "insulin receptor isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P06213-1", "PR:P06213-1", "ENSEMBL:ENSP00000303830", "ENSEMBL:ENSP00000303830.4"], "information_content": 100.0}
{"id": "NCBIGene:120586", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR8I2", "equivalent_identifiers": ["NCBIGene:120586", "ENSEMBL:ENSG00000172154", "HGNC:15310", "UMLS:C1423394", "UniProtKB:Q8N0Y5", "PR:Q8N0Y5", "ENSEMBL:ENSP00000303864", "ENSEMBL:ENSP00000303864.2"], "information_content": 100.0}
{"id": "MONDO:0019962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid lymphoma", "equivalent_identifiers": ["MONDO:0019962", "DOID:10011", "orphanet:97285", "UMLS:C1336753", "NCIT:C5265", "SNOMEDCT:278051002", "medgen:234947", "icd11.foundation:571063415"], "information_content": 87.2}
{"id": "UniProtKB:Q8N568-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase DCLK2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N568-3", "PR:Q8N568-3", "ENSEMBL:ENSP00000303887", "ENSEMBL:ENSP00000303887.8"], "information_content": 100.0}
{"id": "NCBIGene:11344", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TWF2", "equivalent_identifiers": ["NCBIGene:11344", "ENSEMBL:ENSG00000247596", "HGNC:9621", "OMIM:607433", "UMLS:C1843915", "UniProtKB:Q6IBS0", "PR:Q6IBS0", "ENSEMBL:ENSP00000303908", "ENSEMBL:ENSP00000303908.4", "UMLS:C0908118", "MESH:C120744"], "information_content": 89.4}
{"id": "UniProtKB:Q12979-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "active breakpoint cluster region-related protein isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q12979-1", "PR:Q12979-1", "ENSEMBL:ENSP00000303909", "ENSEMBL:ENSP00000303909.5", "ENSEMBL:ENSP00000481740", "ENSEMBL:ENSP00000481740.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WU39-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "marginal zone B- and B1-cell-specific protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WU39-1", "PR:Q8WU39-1", "ENSEMBL:ENSP00000303920", "ENSEMBL:ENSP00000303920.8"], "information_content": 100.0}
{"id": "NCBIGene:9778", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIAA0232", "equivalent_identifiers": ["NCBIGene:9778", "ENSEMBL:ENSG00000170871", "HGNC:28992", "OMIM:619237", "UMLS:C2239556", "UniProtKB:A5YKK5", "UniProtKB:Q92628", "PR:Q92628", "ENSEMBL:ENSP00000303928", "ENSEMBL:ENSP00000303928.5", "ENSEMBL:ENSP00000413739", "ENSEMBL:ENSP00000413739.1"], "information_content": 90.9}
{"id": "MONDO:0003387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urethra clear cell adenocarcinoma", "equivalent_identifiers": ["MONDO:0003387", "DOID:5307", "UMLS:C1336886", "NCIT:C6172", "medgen:277846"], "information_content": 100.0}
{"id": "NCBIGene:2815", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GP9", "equivalent_identifiers": ["NCBIGene:2815", "ENSEMBL:ENSG00000169704", "HGNC:4444", "OMIM:173515", "UMLS:C1439350", "UniProtKB:P14770", "PR:P14770", "ENSEMBL:ENSP00000303942", "ENSEMBL:ENSP00000303942.4", "UMLS:C4283743"], "information_content": 95.4}
{"id": "MONDO:0014434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 5", "equivalent_identifiers": ["MONDO:0014434", "DOID:0110127", "OMIM:615983", "EFO:0009025", "UMLS:C3892039", "medgen:856141"], "information_content": 100.0}
{"id": "NCBIGene:440387", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTRB2", "equivalent_identifiers": ["NCBIGene:440387", "ENSEMBL:ENSG00000168928", "HGNC:2522", "OMIM:619620", "UMLS:C1413807", "UniProtKB:Q6GPI1", "PR:Q6GPI1", "ENSEMBL:ENSP00000303963", "ENSEMBL:ENSP00000303963.8", "UMLS:C2606396"], "information_content": 100.0}
{"id": "NCBIGene:93426", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYCE1", "equivalent_identifiers": ["NCBIGene:93426", "ENSEMBL:ENSG00000171772", "HGNC:28852", "OMIM:611486", "UMLS:C1823157", "UniProtKB:A0A0B4J1R9", "ENSEMBL:ENSP00000303978", "ENSEMBL:ENSP00000303978.5", "UniProtKB:Q8N0S2", "PR:Q8N0S2"]}
{"id": "NCBIGene:79188", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM43", "equivalent_identifiers": ["NCBIGene:79188", "ENSEMBL:ENSG00000170876", "HGNC:28472", "OMIM:612048", "UMLS:C1540016", "UniProtKB:A0A024R2F9", "UMLS:C2353578", "MESH:C528696", "UniProtKB:Q9BTV4", "PR:Q9BTV4", "ENSEMBL:ENSP00000303992", "ENSEMBL:ENSP00000303992.5", "UMLS:C5400887"], "information_content": 95.4}
{"id": "UniProtKB:Q9BX10-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTP-binding protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BX10-1", "PR:Q9BX10-1", "ENSEMBL:ENSP00000303997", "ENSEMBL:ENSP00000303997.5"], "information_content": 100.0}
{"id": "NCBIGene:3171", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXA3", "equivalent_identifiers": ["NCBIGene:3171", "ENSEMBL:ENSG00000170608", "HGNC:5023", "OMIM:602295", "UMLS:C1415628", "UniProtKB:P55318", "PR:P55318", "ENSEMBL:ENSP00000304004", "ENSEMBL:ENSP00000304004.1", "UMLS:C1565825", "MESH:C496505"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSY2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "StAR-related lipid transfer protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSY2-1", "PR:Q9NSY2-1", "ENSEMBL:ENSP00000304032", "ENSEMBL:ENSP00000304032.6"], "information_content": 100.0}
{"id": "NCBIGene:11236", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF139", "equivalent_identifiers": ["NCBIGene:11236", "ENSEMBL:ENSG00000170881", "HGNC:17023", "OMIM:603046", "UMLS:C1424693", "UniProtKB:Q8WU17", "PR:Q8WU17", "ENSEMBL:ENSP00000304051", "ENSEMBL:ENSP00000304051.4", "ENSEMBL:ENSP00000517238", "ENSEMBL:ENSP00000517238.1", "ENSEMBL:ENSP00000520565", "ENSEMBL:ENSP00000520565.1", "UMLS:C0756527", "MESH:C114025"], "information_content": 95.4}
{"id": "NCBIGene:202865", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C7orf33", "equivalent_identifiers": ["NCBIGene:202865", "ENSEMBL:ENSG00000170279", "HGNC:21724", "UMLS:C1427721", "UniProtKB:A0A090N8Y1", "UniProtKB:Q8WU49", "PR:Q8WU49", "ENSEMBL:ENSP00000304071", "ENSEMBL:ENSP00000304071.2"], "information_content": 100.0}
{"id": "NCBIGene:81127", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4K15", "equivalent_identifiers": ["NCBIGene:81127", "ENSEMBL:ENSG00000169488", "HGNC:15353", "UMLS:C1423432", "UniProtKB:Q8NH41", "PR:Q8NH41", "ENSEMBL:ENSP00000304077", "ENSEMBL:ENSP00000304077.5", "ENSEMBL:ENSP00000517381", "ENSEMBL:ENSP00000517381.1"], "information_content": 100.0}
{"id": "NCBIGene:222584", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM83B", "equivalent_identifiers": ["NCBIGene:222584", "ENSEMBL:ENSG00000168143", "HGNC:21357", "UMLS:C1825162", "UniProtKB:Q5T0W9", "PR:Q5T0W9", "ENSEMBL:ENSP00000304078", "ENSEMBL:ENSP00000304078.7", "UMLS:C4077459", "MESH:C000601379"], "information_content": 95.4}
{"id": "NCBIGene:10980", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COPS6", "equivalent_identifiers": ["NCBIGene:10980", "ENSEMBL:ENSG00000168090", "HGNC:21749", "OMIM:614729", "UMLS:C1427739", "UniProtKB:Q7L5N1", "PR:Q7L5N1", "ENSEMBL:ENSP00000304102", "ENSEMBL:ENSP00000304102.3", "UMLS:C1173741", "MESH:C470634"], "information_content": 92.8}
{"id": "UniProtKB:Q6P995-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM171B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P995-1", "PR:Q6P995-1", "ENSEMBL:ENSP00000304108", "ENSEMBL:ENSP00000304108.5"], "information_content": 100.0}
{"id": "MONDO:0024550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontometaphyseal dysplasia 1", "equivalent_identifiers": ["MONDO:0024550", "DOID:0111786", "OMIM:305620", "UMLS:C4281559", "medgen:923943"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAE7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated potassium channel regulatory subunit KCNG3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAE7-1", "PR:Q8TAE7-1", "ENSEMBL:ENSP00000304127", "ENSEMBL:ENSP00000304127.1"], "information_content": 100.0}
{"id": "MONDO:0012603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "episodic kinesigenic dyskinesia 2", "equivalent_identifiers": ["MONDO:0012603", "DOID:0090054", "OMIM:611031", "UMLS:C1970238", "MESH:C567026", "medgen:410022"], "information_content": 100.0}
{"id": "NCBIGene:7857", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCG2", "equivalent_identifiers": ["NCBIGene:7857", "ENSEMBL:ENSG00000171951", "HGNC:10575", "OMIM:118930", "UMLS:C1335805", "UniProtKB:P13521", "PR:P13521", "ENSEMBL:ENSP00000304133", "ENSEMBL:ENSP00000304133.2", "UMLS:C1569744", "MESH:C506135"], "information_content": 89.4}
{"id": "NCBIGene:27288", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBMXL2", "equivalent_identifiers": ["NCBIGene:27288", "ENSEMBL:ENSG00000170748", "HGNC:17886", "OMIM:605444", "UMLS:C1854268", "UniProtKB:O75526", "PR:O75526", "ENSEMBL:ENSP00000304139", "ENSEMBL:ENSP00000304139.5", "UMLS:C0962018", "MESH:C415905"], "information_content": 100.0}
{"id": "MONDO:0010542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 3B", "equivalent_identifiers": ["MONDO:0010542", "DOID:0110461", "OMIM:302045", "UMLS:C3668940", "MESH:C580047", "SNOMEDCT:702424003", "medgen:777148"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXC6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "COP9 signalosome complex subunit 9 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXC6-1", "PR:Q8WXC6-1", "ENSEMBL:ENSP00000304147", "ENSEMBL:ENSP00000304147.3"], "information_content": 100.0}
{"id": "NCBIGene:219417", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR8U1", "equivalent_identifiers": ["NCBIGene:219417", "ENSEMBL:ENSG00000172199", "HGNC:19611", "UMLS:C1426275", "UniProtKB:Q8NH10", "PR:Q8NH10", "ENSEMBL:ENSP00000304188", "ENSEMBL:ENSP00000304188.1", "ENSEMBL:ENSP00000517450", "ENSEMBL:ENSP00000517450.1"], "information_content": 100.0}
{"id": "MONDO:0018171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant germ cell tumor of ovary", "equivalent_identifiers": ["MONDO:0018171", "DOID:2155", "orphanet:35807", "UMLS:C0346180", "MESH:C562841", "MEDDRA:10033222", "MEDDRA:10052311", "MEDDRA:10061893", "NCIT:C4514", "SNOMEDCT:254869000", "medgen:87544"], "information_content": 72.5}
{"id": "MONDO:0008167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermoid cyst of ovary", "equivalent_identifiers": ["MONDO:0008167", "DOID:5117", "OMIM:166950", "UMLS:C0237020", "MESH:C562731", "MEDDRA:10012524", "NCIT:C3856", "medgen:68637", "icd11.foundation:1067463359", "HP:0025274"], "information_content": 100.0}
{"id": "UniProtKB:Q96RV3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pecanex-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RV3-1", "PR:Q96RV3-1", "ENSEMBL:ENSP00000304192", "ENSEMBL:ENSP00000304192.2"], "information_content": 100.0}
{"id": "MONDO:0018510", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "small intestine neuroendocrine neoplasm", "equivalent_identifiers": ["MONDO:0018510", "DOID:4434", "orphanet:423975", "EFO:1001928", "UMLS:C1336005", "UMLS:CN237515", "MEDDRA:10085940", "MEDDRA:10085958", "NCIT:C5803", "SNOMEDCT:1186805005", "medgen:233453"], "information_content": 73.6}
{"id": "UniProtKB:Q9H422-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeodomain-interacting protein kinase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H422-1", "PR:Q9H422-1", "ENSEMBL:ENSP00000304226", "ENSEMBL:ENSP00000304226.4"], "information_content": 100.0}
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{"id": "NCBIGene:5881", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAC3", "equivalent_identifiers": ["NCBIGene:5881", "ENSEMBL:ENSG00000169750", "HGNC:9803", "OMIM:602050", "UMLS:C1419229", "UniProtKB:P60763", "PR:P60763", "ENSEMBL:ENSP00000304283", "ENSEMBL:ENSP00000304283.4", "UMLS:C1439064", "UMLS:C3538822", "MESH:C411563"], "information_content": 90.9}
{"id": "MONDO:0007220", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type B1", "equivalent_identifiers": ["MONDO:0007220", "DOID:0110969", "OMIM:113000", "orphanet:572385", "UMLS:C1862112", "MESH:C566196", "medgen:349432", "HP:0005831"], "information_content": 100.0}
{"id": "UniProtKB:Q12951-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein I1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12951-1", "PR:Q12951-1", "ENSEMBL:ENSP00000304286", "ENSEMBL:ENSP00000304286.5"], "information_content": 100.0}
{"id": "UniProtKB:P11230-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetylcholine receptor subunit beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P11230-1", "PR:P11230-1", "ENSEMBL:ENSP00000304290", "ENSEMBL:ENSP00000304290.2", "ENSEMBL:ENSP00000492221", "ENSEMBL:ENSP00000492221.1"], "information_content": 100.0}
{"id": "NCBIGene:84079", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD27", "equivalent_identifiers": ["NCBIGene:84079", "ENSEMBL:ENSG00000105186", "HGNC:25310", "OMIM:618957", "UMLS:C1428472", "UniProtKB:Q96NW4", "PR:Q96NW4", "ENSEMBL:ENSP00000304292", "ENSEMBL:ENSP00000304292.3", "UMLS:C2354540", "MESH:C529611"], "information_content": 87.2}
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{"id": "NCBIGene:219409", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSX1", "equivalent_identifiers": ["NCBIGene:219409", "ENSEMBL:ENSG00000169840", "HGNC:20374", "OMIM:616542", "UMLS:C1426902", "UniProtKB:Q9H4S2", "PR:Q9H4S2", "ENSEMBL:ENSP00000304331", "ENSEMBL:ENSP00000304331.2"], "information_content": 100.0}
{"id": "NCBIGene:260434", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PYDC1", "equivalent_identifiers": ["NCBIGene:260434", "ENSEMBL:ENSG00000169900", "HGNC:30261", "OMIM:615700", "UMLS:C1538757", "UniProtKB:Q8WXC3", "PR:Q8WXC3", "ENSEMBL:ENSP00000304336", "ENSEMBL:ENSP00000304336.4"], "information_content": 100.0}
{"id": "NCBIGene:10248", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POP7", "equivalent_identifiers": ["NCBIGene:10248", "ENSEMBL:ENSG00000172336", "HGNC:19949", "OMIM:606113", "UMLS:C1426553", "UniProtKB:O75817", "PR:O75817", "ENSEMBL:ENSP00000304353", "ENSEMBL:ENSP00000304353.4", "UMLS:C1431345", "MESH:C112706"], "information_content": 95.4}
{"id": "NCBIGene:90693", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC126", "equivalent_identifiers": ["NCBIGene:90693", "ENSEMBL:ENSG00000169193", "HGNC:22398", "UMLS:C1824653", "UniProtKB:Q96EE4", "PR:Q96EE4", "ENSEMBL:ENSP00000304355", "ENSEMBL:ENSP00000304355.3", "ENSEMBL:ENSP00000386355", "ENSEMBL:ENSP00000386355.1", "ENSEMBL:ENSP00000386675", "ENSEMBL:ENSP00000386675.1"], "information_content": 95.4}
{"id": "MONDO:0009804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 3", "equivalent_identifiers": ["MONDO:0009804", "DOID:0110339", "OMIM:259420", "orphanet:216812", "UMLS:C0268362", "MESH:C536044", "NCIT:C99002", "SNOMEDCT:385483009", "medgen:78664", "icd11.foundation:629873920"], "information_content": 100.0}
{"id": "NCBIGene:114826", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMYD4", "equivalent_identifiers": ["NCBIGene:114826", "ENSEMBL:ENSG00000186532", "HGNC:21067", "OMIM:619134", "UMLS:C1427288", "UniProtKB:Q8IYR2", "PR:Q8IYR2", "ENSEMBL:ENSP00000304360", "ENSEMBL:ENSP00000304360.7"], "information_content": 92.8}
{"id": "MONDO:0009617", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 1, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0009617", "DOID:0070285", "OMIM:251200", "UMLS:C1855081", "MESH:C565384", "medgen:344415"], "information_content": 100.0}
{"id": "NCBIGene:29071", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1GALT1C1", "equivalent_identifiers": ["NCBIGene:29071", "ENSEMBL:ENSG00000171155", "HGNC:24338", "OMIM:300611", "UMLS:C1538974", "UniProtKB:Q96EU7", "PR:Q96EU7", "ENSEMBL:ENSP00000304364", "ENSEMBL:ENSP00000304364.5", "ENSEMBL:ENSP00000360363", "ENSEMBL:ENSP00000360363.2", "ENSEMBL:ENSP00000500356", "ENSEMBL:ENSP00000500356.1", "ENSEMBL:ENSP00000500561", "ENSEMBL:ENSP00000500561.1", "UMLS:C1622807", "UMLS:C3812673", "MESH:C505369"], "information_content": 88.2}
{"id": "NCBIGene:53917", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB24", "equivalent_identifiers": ["NCBIGene:53917", "ENSEMBL:ENSG00000169228", "HGNC:9765", "OMIM:612415", "UMLS:C1419194", "UniProtKB:Q969Q5", "PR:Q969Q5", "ENSEMBL:ENSP00000304376", "ENSEMBL:ENSP00000304376.6", "ENSEMBL:ENSP00000377235", "ENSEMBL:ENSP00000377235.2", "UMLS:C1743540", "MESH:C514248"], "information_content": 92.8}
{"id": "UniProtKB:P02461-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(III) chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P02461-1", "PR:P02461-1", "ENSEMBL:ENSP00000304408", "ENSEMBL:ENSP00000304408.4"], "information_content": 100.0}
{"id": "UniProtKB:Q2NKX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UPF0561 protein C2orf68 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2NKX9-1", "PR:Q2NKX9-1", "ENSEMBL:ENSP00000304410", "ENSEMBL:ENSP00000304410.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCW0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Kremen protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCW0-1", "PR:Q8NCW0-1", "ENSEMBL:ENSP00000304422", "ENSEMBL:ENSP00000304422.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNH6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-7 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNH6-3", "PR:Q9UNH6-3", "ENSEMBL:ENSP00000304429", "ENSEMBL:ENSP00000304429.3"], "information_content": 100.0}
{"id": "MONDO:0011460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 6", "equivalent_identifiers": ["MONDO:0011460", "DOID:0110075", "OMIM:604401", "UMLS:C1858378", "MESH:C565775", "medgen:346892"], "information_content": 100.0}
{"id": "UniProtKB:Q76NI1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinase non-catalytic C-lobe domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q76NI1-1", "PR:Q76NI1-1", "ENSEMBL:ENSP00000304437", "ENSEMBL:ENSP00000304437.3"], "information_content": 100.0}
{"id": "UniProtKB:O00219-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hyaluronan synthase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00219-1", "PR:O00219-1", "ENSEMBL:ENSP00000304440", "ENSEMBL:ENSP00000304440.1", "ENSEMBL:ENSP00000454731", "ENSEMBL:ENSP00000454731.1"], "information_content": 100.0}
{"id": "UniProtKB:P52888-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thimet oligopeptidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P52888-1", "PR:P52888-1", "ENSEMBL:ENSP00000304467", "ENSEMBL:ENSP00000304467.5"], "information_content": 100.0}
{"id": "NCBIGene:136", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADORA2B", "equivalent_identifiers": ["NCBIGene:136", "ENSEMBL:ENSG00000170425", "HGNC:264", "OMIM:600446", "UMLS:C1412247", "UniProtKB:P29275", "PR:P29275", "ENSEMBL:ENSP00000304501", "ENSEMBL:ENSP00000304501.2", "UMLS:C1527413", "MESH:C000628986"], "information_content": 95.4}
{"id": "NCBIGene:10736", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIX2", "equivalent_identifiers": ["NCBIGene:10736", "ENSEMBL:ENSG00000170577", "HGNC:10888", "OMIM:604994", "UMLS:C1420073", "UniProtKB:Q8TBA2", "UMLS:C1436405", "MESH:C484762", "UniProtKB:Q9NPC8", "PR:Q9NPC8", "ENSEMBL:ENSP00000304502", "ENSEMBL:ENSP00000304502.6", "UMLS:C3829674"], "information_content": 100.0}
{"id": "NCBIGene:136647", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MPLKIP", "equivalent_identifiers": ["NCBIGene:136647", "ENSEMBL:ENSG00000168303", "HGNC:16002", "OMIM:609188", "UMLS:C1423902", "UniProtKB:A4D1W6", "UniProtKB:Q8TAP9", "PR:Q8TAP9", "ENSEMBL:ENSP00000304553", "ENSEMBL:ENSP00000304553.5", "UMLS:C1956536", "MESH:C519267"], "information_content": 95.4}
{"id": "MONDO:0015797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "UV-sensitive syndrome", "equivalent_identifiers": ["MONDO:0015797", "DOID:0060240", "OMIM.PS:600630", "orphanet:178338", "UMLS:C1833561", "MESH:C563466", "SNOMEDCT:698253007", "medgen:322222"], "information_content": 90.9}
{"id": "MONDO:0011074", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 7", "equivalent_identifiers": ["MONDO:0011074", "DOID:0110591", "OMIM:601412", "UMLS:C1832379", "MESH:C563321", "medgen:318614"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZW76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and SAM domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZW76-1", "PR:Q6ZW76-1", "ENSEMBL:ENSP00000304586", "ENSEMBL:ENSP00000304586.4", "ENSEMBL:ENSP00000480350", "ENSEMBL:ENSP00000480350.1"], "information_content": 100.0}
{"id": "MONDO:0010443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular degeneration, X-linked atrophic", "equivalent_identifiers": ["MONDO:0010443", "DOID:0112157", "OMIM:300834", "UMLS:C3151784", "medgen:463134"], "information_content": 100.0}
{"id": "NCBIGene:2194", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FASN", "equivalent_identifiers": ["NCBIGene:2194", "ENSEMBL:ENSG00000169710", "HGNC:3594", "OMIM:600212", "UMLS:C1367441", "UniProtKB:P49327", "PR:P49327", "ENSEMBL:ENSP00000304592", "ENSEMBL:ENSP00000304592.2", "UMLS:C1871899", "MESH:C518729"], "information_content": 75.8}
{"id": "NCBIGene:10467", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNHIT1", "equivalent_identifiers": ["NCBIGene:10467", "ENSEMBL:ENSG00000106400", "HGNC:21688", "OMIM:618617", "UMLS:C1427697", "UniProtKB:O43257", "PR:O43257", "ENSEMBL:ENSP00000304593", "ENSEMBL:ENSP00000304593.2", "UMLS:C2000806", "MESH:C524753"], "information_content": 100.0}
{"id": "UniProtKB:Q5TCQ9-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TCQ9-4", "PR:Q5TCQ9-4", "ENSEMBL:ENSP00000304604", "ENSEMBL:ENSP00000304604.9"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6L5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reticulophagy regulator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6L5-1", "PR:Q9H6L5-1", "ENSEMBL:ENSP00000304642", "ENSEMBL:ENSP00000304642.9"], "information_content": 100.0}
{"id": "NCBIGene:163688", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CALML6", "equivalent_identifiers": ["NCBIGene:163688", "ENSEMBL:ENSG00000169885", "HGNC:24193", "OMIM:610171", "UMLS:C1538433", "UniProtKB:B1AKR1", "ENSEMBL:ENSP00000367867", "ENSEMBL:ENSP00000367867.3", "UMLS:C1570307", "MESH:C501464", "UniProtKB:Q8TD86", "PR:Q8TD86", "ENSEMBL:ENSP00000304643", "ENSEMBL:ENSP00000304643.3"], "information_content": 100.0}
{"id": "UniProtKB:P35221-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "catenin alpha-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35221-1", "PR:P35221-1", "ENSEMBL:ENSP00000304669", "ENSEMBL:ENSP00000304669.7"], "information_content": 100.0}
{"id": "UniProtKB:Q5M7Z0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNFT1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5M7Z0-1", "PR:Q5M7Z0-1", "ENSEMBL:ENSP00000304670", "ENSEMBL:ENSP00000304670.8"], "information_content": 100.0}
{"id": "UniProtKB:Q96SQ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor ATOH8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96SQ7-1", "PR:Q96SQ7-1", "ENSEMBL:ENSP00000304676", "ENSEMBL:ENSP00000304676.3", "ENSEMBL:ENSP00000520563", "ENSEMBL:ENSP00000520563.1"], "information_content": 100.0}
{"id": "NCBIGene:57215", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THAP11", "equivalent_identifiers": ["NCBIGene:57215", "ENSEMBL:ENSG00000168286", "HGNC:23194", "OMIM:609119", "UMLS:C1427980", "UniProtKB:Q96EK4", "PR:Q96EK4", "ENSEMBL:ENSP00000304689", "ENSEMBL:ENSP00000304689.1", "UMLS:C1567267", "MESH:C498470"], "information_content": 100.0}
{"id": "NCBIGene:84437", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MSANTD4", "equivalent_identifiers": ["NCBIGene:84437", "ENSEMBL:ENSG00000170903", "HGNC:29383", "UMLS:C3471121", "UniProtKB:Q8NCY6", "PR:Q8NCY6", "ENSEMBL:ENSP00000304713", "ENSEMBL:ENSP00000304713.4"], "information_content": 95.4}
{"id": "UniProtKB:Q96QH8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LYZL5_HUMAN Sperm acrosome-associated protein 5 (sprot)", "equivalent_identifiers": ["UniProtKB:Q96QH8", "PR:Q96QH8", "ENSEMBL:ENSP00000304762", "ENSEMBL:ENSP00000304762.5", "ENSEMBL:ENSP00000305847", "ENSEMBL:ENSP00000305847.5", "ENSEMBL:ENSP00000366139", "ENSEMBL:ENSP00000366139.3"], "information_content": 100.0}
{"id": "MONDO:0004762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Taylor syndrome", "equivalent_identifiers": ["MONDO:0004762", "DOID:9346", "UMLS:C0152078", "MEDDRA:10034240", "MEDDRA:10034241", "SNOMEDCT:39402007", "medgen:508874", "ICD9:625.5"], "information_content": 100.0}
{"id": "NCBIGene:5028", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "P2RY1", "equivalent_identifiers": ["NCBIGene:5028", "ENSEMBL:ENSG00000169860", "HGNC:8539", "OMIM:601167", "UMLS:C1418217", "UniProtKB:P47900", "PR:P47900", "ENSEMBL:ENSP00000304767", "ENSEMBL:ENSP00000304767.3", "UMLS:C2745812", "MESH:C546382"], "information_content": 95.4}
{"id": "NCBIGene:168544", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF467", "equivalent_identifiers": ["NCBIGene:168544", "ENSEMBL:ENSG00000181444", "HGNC:23154", "OMIM:614040", "UMLS:C1538188", "UniProtKB:C9JAX3", "ENSEMBL:ENSP00000418011", "ENSEMBL:ENSP00000418011.1", "UMLS:C2001843", "MESH:C524849", "UniProtKB:Q7Z7K2", "PR:Q7Z7K2", "ENSEMBL:ENSP00000304769", "ENSEMBL:ENSP00000304769.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carboxylesterase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWW8-1", "PR:Q6UWW8-1", "ENSEMBL:ENSP00000304782", "ENSEMBL:ENSP00000304782.4"], "information_content": 100.0}
{"id": "UniProtKB:P58743-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prestin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P58743-1", "PR:P58743-1", "ENSEMBL:ENSP00000304783", "ENSEMBL:ENSP00000304783.3"], "information_content": 100.0}
{"id": "UniProtKB:P23919-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thymidylate kinase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P23919-1", "PR:P23919-1", "ENSEMBL:ENSP00000304802", "ENSEMBL:ENSP00000304802.2"], "information_content": 100.0}
{"id": "NCBIGene:7364", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UGT2B7", "equivalent_identifiers": ["NCBIGene:7364", "ENSEMBL:ENSG00000171234", "HGNC:12554", "OMIM:600068", "UMLS:C1421346", "UniProtKB:E9PBP8", "ENSEMBL:ENSP00000427659", "ENSEMBL:ENSP00000427659.1", "UniProtKB:P16662", "PR:P16662", "ENSEMBL:ENSP00000304811", "ENSEMBL:ENSP00000304811.7", "UMLS:C1504898", "MESH:C491474"], "information_content": 95.4}
{"id": "NCBIGene:1448", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSN3", "equivalent_identifiers": ["NCBIGene:1448", "ENSEMBL:ENSG00000171209", "HGNC:2446", "OMIM:601695", "UMLS:C1384513", "UniProtKB:P07498", "PR:P07498", "ENSEMBL:ENSP00000304822", "ENSEMBL:ENSP00000304822.3", "ENSEMBL:ENSP00000508633", "ENSEMBL:ENSP00000508633.1"], "information_content": 68.9}
{"id": "UniProtKB:P22309-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 1A1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P22309-1", "PR:P22309-1", "ENSEMBL:ENSP00000304845", "ENSEMBL:ENSP00000304845.5"], "information_content": 100.0}
{"id": "NCBIGene:134492", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUDCD2", "equivalent_identifiers": ["NCBIGene:134492", "ENSEMBL:ENSG00000170584", "HGNC:30535", "OMIM:620136", "UMLS:C1538497", "UniProtKB:Q8WVJ2", "PR:Q8WVJ2", "ENSEMBL:ENSP00000304854", "ENSEMBL:ENSP00000304854.3", "UMLS:C2932935", "MESH:C548331"], "information_content": 95.4}
{"id": "NCBIGene:90423", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP6V1E2", "equivalent_identifiers": ["NCBIGene:90423", "ENSEMBL:ENSG00000250565", "HGNC:18125", "OMIM:617385", "UMLS:C1425331", "UniProtKB:A0A140VKA8", "UMLS:C1138279", "MESH:C462522", "UniProtKB:Q96A05", "PR:Q96A05", "ENSEMBL:ENSP00000304891", "ENSEMBL:ENSP00000304891.4", "ENSEMBL:ENSP00000428141", "ENSEMBL:ENSP00000428141.1"], "information_content": 95.4}
{"id": "NCBIGene:3667", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IRS1", "equivalent_identifiers": ["NCBIGene:3667", "ENSEMBL:ENSG00000169047", "HGNC:6125", "OMIM:147545", "UMLS:C1334140", "UniProtKB:P35568", "PR:P35568", "ENSEMBL:ENSP00000304895", "ENSEMBL:ENSP00000304895.4", "UMLS:C0121830", "MESH:C526292"], "information_content": 88.2}
{"id": "NCBIGene:10421", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD2BP2", "equivalent_identifiers": ["NCBIGene:10421", "ENSEMBL:ENSG00000169217", "HGNC:1656", "OMIM:604470", "UMLS:C1413217", "UniProtKB:A0A024QZC1", "UniProtKB:O95400", "PR:O95400", "ENSEMBL:ENSP00000304903", "ENSEMBL:ENSP00000304903.3", "ENSEMBL:ENSP00000456935", "ENSEMBL:ENSP00000456935.1", "UMLS:C1438413", "MESH:C120378"], "information_content": 100.0}
{"id": "UniProtKB:Q86VQ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VQ3-1", "PR:Q86VQ3-1", "ENSEMBL:ENSP00000304908", "ENSEMBL:ENSP00000304908.6"], "information_content": 100.0}
{"id": "MONDO:0014267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to IKK2 deficiency", "equivalent_identifiers": ["MONDO:0014267", "DOID:0111959", "OMIM:615592", "orphanet:397787", "UMLS:C4747743", "medgen:1648569"], "information_content": 100.0}
{"id": "NCBIGene:3596", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL13", "equivalent_identifiers": ["NCBIGene:3596", "ENSEMBL:ENSG00000169194", "HGNC:5973", "OMIM:147683", "UMLS:C1334103", "UniProtKB:P35225", "PR:P35225", "ENSEMBL:ENSP00000304915", "ENSEMBL:ENSP00000304915.3", "UMLS:C3658037", "MESH:C578095", "UniProtKB:Q4VB53"], "information_content": 95.4}
{"id": "UniProtKB:Q86X40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 28 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86X40-1", "PR:Q86X40-1", "ENSEMBL:ENSP00000304923", "ENSEMBL:ENSP00000304923.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWR9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pancreatic progenitor cell differentiation and proliferation factor-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWR9-1", "PR:Q8WWR9-1", "ENSEMBL:ENSP00000304926", "ENSEMBL:ENSP00000304926.8"], "information_content": 100.0}
{"id": "MONDO:0002814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenal carcinoma", "equivalent_identifiers": ["MONDO:0002814", "DOID:3950", "MESH:D018268"], "information_content": 88.2}
{"id": "UniProtKB:Q6X4U4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sclerostin domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6X4U4-1", "PR:Q6X4U4-1", "ENSEMBL:ENSP00000304930", "ENSEMBL:ENSP00000304930.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96GX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tectonic-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GX1-1", "PR:Q96GX1-1", "ENSEMBL:ENSP00000304941", "ENSEMBL:ENSP00000304941.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8WZ75-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "roundabout homolog 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WZ75-1", "PR:Q8WZ75-1", "ENSEMBL:ENSP00000304945", "ENSEMBL:ENSP00000304945.3"], "information_content": 100.0}
{"id": "MONDO:0014237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 76", "equivalent_identifiers": ["MONDO:0014237", "DOID:0110524", "OMIM:615540", "UMLS:C3147083", "medgen:811137"], "information_content": 100.0}
{"id": "NCBIGene:4330", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MN1", "equivalent_identifiers": ["NCBIGene:4330", "ENSEMBL:ENSG00000169184", "HGNC:7180", "OMIM:156100", "UMLS:C1417217", "UniProtKB:Q10571", "PR:Q10571", "ENSEMBL:ENSP00000304956", "ENSEMBL:ENSP00000304956.4", "UMLS:C1667751", "MESH:C506524"], "information_content": 100.0}
{"id": "NCBIGene:8419", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BFSP2", "equivalent_identifiers": ["NCBIGene:8419", "ENSEMBL:ENSG00000170819", "HGNC:1041", "OMIM:603212", "UMLS:C1412790", "UniProtKB:Q13515", "PR:Q13515", "ENSEMBL:ENSP00000304987", "ENSEMBL:ENSP00000304987.2", "UMLS:C1448906"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQ74-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pregnancy-specific beta-1-glycoprotein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ74-1", "PR:Q9UQ74-1", "ENSEMBL:ENSP00000305005", "ENSEMBL:ENSP00000305005.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IY95-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 192 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY95-1", "PR:Q8IY95-1", "ENSEMBL:ENSP00000305069", "ENSEMBL:ENSP00000305069.4"], "information_content": 100.0}
{"id": "UniProtKB:O14593-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-binding protein RFXANK isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14593-1", "PR:O14593-1", "ENSEMBL:ENSP00000305071", "ENSEMBL:ENSP00000305071.2", "ENSEMBL:ENSP00000384572", "ENSEMBL:ENSP00000384572.3"], "information_content": 100.0}
{"id": "NCBIGene:150248", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C22orf15", "equivalent_identifiers": ["NCBIGene:150248", "ENSEMBL:ENSG00000169314", "HGNC:15558", "UMLS:C1538422", "UniProtKB:F8W7S3", "ENSEMBL:ENSP00000305096", "ENSEMBL:ENSP00000305096.5", "UniProtKB:Q8WYQ4", "PR:Q8WYQ4"]}
{"id": "NCBIGene:155038", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GIMAP8", "equivalent_identifiers": ["NCBIGene:155038", "ENSEMBL:ENSG00000171115", "HGNC:21792", "OMIM:616962", "UMLS:C1539569", "UniProtKB:Q8ND71", "PR:Q8ND71", "ENSEMBL:ENSP00000305107", "ENSEMBL:ENSP00000305107.3", "UMLS:C5690317", "MESH:C000721032"], "information_content": 100.0}
{"id": "MONDO:0009416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoinsulinemic hypoglycemia and body hemihypertrophy", "equivalent_identifiers": ["MONDO:0009416", "DOID:0112263", "OMIM:240900", "orphanet:293964", "UMLS:C3278384", "medgen:480014"], "information_content": 100.0}
{"id": "NCBIGene:9655", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOCS5", "equivalent_identifiers": ["NCBIGene:9655", "ENSEMBL:ENSG00000171150", "HGNC:16852", "OMIM:607094", "UMLS:C1424593", "UniProtKB:O75159", "PR:O75159", "ENSEMBL:ENSP00000305133", "ENSEMBL:ENSP00000305133.5", "ENSEMBL:ENSP00000378330", "ENSEMBL:ENSP00000378330.2", "UMLS:C1438972", "MESH:C408990"], "information_content": 92.8}
{"id": "UniProtKB:Q96N64-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PWWP domain-containing protein 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96N64-1", "PR:Q96N64-1", "ENSEMBL:ENSP00000305151", "ENSEMBL:ENSP00000305151.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM56 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRZ2-1", "PR:Q9BRZ2-1", "ENSEMBL:ENSP00000305161", "ENSEMBL:ENSP00000305161.6"], "information_content": 100.0}
{"id": "NCBIGene:64342", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HS1BP3", "equivalent_identifiers": ["NCBIGene:64342", "ENSEMBL:ENSG00000118960", "HGNC:24979", "OMIM:609359", "UMLS:C1825525", "UniProtKB:Q53T59", "PR:Q53T59", "ENSEMBL:ENSP00000305193", "ENSEMBL:ENSP00000305193.3", "UMLS:C1610940", "MESH:C503777", "UniProtKB:Q9H7U7"], "information_content": 95.4}
{"id": "MONDO:0008945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonic cerebellar dyssynergia", "equivalent_identifiers": ["MONDO:0008945", "DOID:12707", "OMIM:213400", "EFO:1001053", "UMLS:C0007761", "UMLS:C3489626", "MESH:D002527", "SNOMEDCT:192871008", "SNOMEDCT:41009006", "SNOMEDCT:73495003", "medgen:483579"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYA6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoskeleton-associated protein 2-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYA6-1", "PR:Q8IYA6-1", "ENSEMBL:ENSP00000305204", "ENSEMBL:ENSP00000305204.6"], "information_content": 100.0}
{"id": "UniProtKB:P06133-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 2B4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P06133-1", "PR:P06133-1", "ENSEMBL:ENSP00000305221", "ENSEMBL:ENSP00000305221.6"], "information_content": 100.0}
{"id": "UniProtKB:P49458-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal recognition particle 9 kDa protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49458-1", "PR:P49458-1", "ENSEMBL:ENSP00000305230", "ENSEMBL:ENSP00000305230.7"], "information_content": 100.0}
{"id": "NCBIGene:79192", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IRX1", "equivalent_identifiers": ["NCBIGene:79192", "ENSEMBL:ENSG00000170549", "HGNC:14358", "OMIM:606197", "UMLS:C1422590", "UniProtKB:P78414", "PR:P78414", "ENSEMBL:ENSP00000305244", "ENSEMBL:ENSP00000305244.3", "UMLS:C1570423", "MESH:C501591"], "information_content": 95.4}
{"id": "NCBIGene:9482", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STX8", "equivalent_identifiers": ["NCBIGene:9482", "ENSEMBL:ENSG00000170310", "HGNC:11443", "OMIM:604203", "UMLS:C1420505", "UniProtKB:Q9UNK0", "PR:Q9UNK0", "ENSEMBL:ENSP00000305255", "ENSEMBL:ENSP00000305255.2"], "information_content": 88.2}
{"id": "UniProtKB:P62879-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62879-1", "PR:P62879-1", "ENSEMBL:ENSP00000305260", "ENSEMBL:ENSP00000305260.4", "ENSEMBL:ENSP00000377501", "ENSEMBL:ENSP00000377501.1", "ENSEMBL:ENSP00000377503", "ENSEMBL:ENSP00000377503.1"], "information_content": 100.0}
{"id": "NCBIGene:57555", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NLGN2", "equivalent_identifiers": ["NCBIGene:57555", "ENSEMBL:ENSG00000169992", "HGNC:14290", "OMIM:606479", "UMLS:C1422547", "UniProtKB:Q8NFZ4", "PR:Q8NFZ4", "ENSEMBL:ENSP00000305288", "ENSEMBL:ENSP00000305288.2", "ENSEMBL:ENSP00000461168", "ENSEMBL:ENSP00000461168.1", "ENSEMBL:ENSP00000492198", "ENSEMBL:ENSP00000492198.1", "ENSEMBL:ENSP00000492323", "ENSEMBL:ENSP00000492323.1", "UMLS:C2930560"], "information_content": 92.8}
{"id": "NCBIGene:340024", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC6A19", "equivalent_identifiers": ["NCBIGene:340024", "ENSEMBL:ENSG00000174358", "HGNC:27960", "OMIM:608893", "UMLS:C1428660", "UniProtKB:Q695T7", "PR:Q695T7", "ENSEMBL:ENSP00000305302", "ENSEMBL:ENSP00000305302.10", "UMLS:C1504863", "MESH:C491436"], "information_content": 90.9}
{"id": "UniProtKB:Q8N475-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "follistatin-related protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N475-1", "PR:Q8N475-1", "ENSEMBL:ENSP00000305334", "ENSEMBL:ENSP00000305334.4"], "information_content": 100.0}
{"id": "MONDO:0001158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obsessive-compulsive personality disorder", "equivalent_identifiers": ["MONDO:0001158", "DOID:10932", "UMLS:C0009595", "UMLS:C1704373", "MESH:D003193", "MEDDRA:10002196", "MEDDRA:10002197", "MEDDRA:10010223", "MEDDRA:10029894", "MEDDRA:10029901", "NCIT:C92638", "SNOMEDCT:112091009", "SNOMEDCT:1376001", "SNOMEDCT:473456000", "medgen:40432", "ICD10:F60.5", "ICD9:301.4"], "information_content": 100.0}
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{"id": "NCBIGene:154", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADRB2", "equivalent_identifiers": ["NCBIGene:154", "ENSEMBL:ENSG00000169252", "HGNC:286", "OMIM:109690", "UMLS:C1367657", "UniProtKB:P07550", "PR:P07550", "ENSEMBL:ENSP00000305372", "ENSEMBL:ENSP00000305372.4", "UMLS:C2976741", "MESH:C553443", "UniProtKB:X5DQM5"], "information_content": 90.9}
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{"id": "UniProtKB:P17676-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCAAT/enhancer-binding protein beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P17676-1", "PR:P17676-1", "ENSEMBL:ENSP00000305422", "ENSEMBL:ENSP00000305422.3", "ENSEMBL:ENSP00000520773", "ENSEMBL:ENSP00000520773.1"], "information_content": 100.0}
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{"id": "UniProtKB:P50607-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubby protein homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P50607-2", "PR:P50607-2", "ENSEMBL:ENSP00000305426", "ENSEMBL:ENSP00000305426.4"], "information_content": 100.0}
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{"id": "UniProtKB:Q8NE01-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metal transporter CNNM3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NE01-1", "PR:Q8NE01-1", "ENSEMBL:ENSP00000305449", "ENSEMBL:ENSP00000305449.3"], "information_content": 100.0}
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{"id": "NCBIGene:204474", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDILT", "equivalent_identifiers": ["NCBIGene:204474", "ENSEMBL:ENSG00000169340", "HGNC:27338", "OMIM:618588", "UMLS:C2678554", "UniProtKB:Q8N807", "PR:Q8N807", "ENSEMBL:ENSP00000305465", "ENSEMBL:ENSP00000305465.4", "UMLS:C1565985", "MESH:C496702"], "information_content": 100.0}
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{"id": "UniProtKB:Q9BVQ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATPase family gene 2 protein homolog B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVQ7-1", "PR:Q9BVQ7-1", "ENSEMBL:ENSP00000305494", "ENSEMBL:ENSP00000305494.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9P1W8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal-regulatory protein gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P1W8-1", "PR:Q9P1W8-1", "ENSEMBL:ENSP00000305529", "ENSEMBL:ENSP00000305529.3"], "information_content": 100.0}
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{"id": "NCBIGene:5093", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCBP1", "equivalent_identifiers": ["NCBIGene:5093", "ENSEMBL:ENSG00000169564", "HGNC:8647", "OMIM:601209", "UMLS:C1418297", "UniProtKB:Q15365", "PR:Q15365", "ENSEMBL:ENSP00000305556", "ENSEMBL:ENSP00000305556.5", "UMLS:C0766446", "MESH:C094604", "UniProtKB:Q53SS8"], "information_content": 85.5}
{"id": "MONDO:0011279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 17", "equivalent_identifiers": ["MONDO:0011279", "DOID:0110472", "OMIM:603010", "UMLS:C1864276", "MESH:C566418", "medgen:355180"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY97-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY97-1", "PR:Q9NY97-1", "ENSEMBL:ENSP00000305595", "ENSEMBL:ENSP00000305595.4", "ENSEMBL:ENSP00000384692", "ENSEMBL:ENSP00000384692.1"], "information_content": 100.0}
{"id": "NCBIGene:153745", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GARIN3", "equivalent_identifiers": ["NCBIGene:153745", "ENSEMBL:ENSG00000170613", "HGNC:28397", "OMIM:619883", "UMLS:C1825135", "UniProtKB:A0A140VJJ4", "UniProtKB:Q8TC56", "PR:Q8TC56", "ENSEMBL:ENSP00000305596", "ENSEMBL:ENSP00000305596.4"], "information_content": 100.0}
{"id": "MONDO:0001347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facioscapulohumeral muscular dystrophy", "equivalent_identifiers": ["MONDO:0001347", "DOID:11727", "OMIM.PS:158900", "orphanet:269", "UMLS:C0238288", "MESH:D020391", "MEDDRA:10064087", "NCIT:C84704", "SNOMEDCT:399091004", "medgen:65956", "icd11.foundation:621965073", "ICD10:G71.02"], "information_content": 88.2}
{"id": "NCBIGene:2525", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FUT3", "equivalent_identifiers": ["NCBIGene:2525", "ENSEMBL:ENSG00000171124", "HGNC:4014", "OMIM:111100", "UMLS:C1414864", "UniProtKB:A8K737", "UMLS:C2604122", "UniProtKB:P21217", "PR:P21217", "ENSEMBL:ENSP00000305603", "ENSEMBL:ENSP00000305603.5", "ENSEMBL:ENSP00000416443", "ENSEMBL:ENSP00000416443.1", "ENSEMBL:ENSP00000465804", "ENSEMBL:ENSP00000465804.1", "ENSEMBL:ENSP00000468123", "ENSEMBL:ENSP00000468123.1", "ENSEMBL:ENSP00000517811", "ENSEMBL:ENSP00000517811.1", "ENSEMBL:ENSP00000517812", "ENSEMBL:ENSP00000517812.1", "ENSEMBL:ENSP00000517813", "ENSEMBL:ENSP00000517813.1", "ENSEMBL:ENSP00000517814", "ENSEMBL:ENSP00000517814.1"], "information_content": 100.0}
{"id": "NCBIGene:10815", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPLX1", "equivalent_identifiers": ["NCBIGene:10815", "ENSEMBL:ENSG00000168993", "HGNC:2309", "OMIM:605032", "UMLS:C1413670", "UniProtKB:O14810", "PR:O14810", "ENSEMBL:ENSP00000305613", "ENSEMBL:ENSP00000305613.6", "UMLS:C2742717"], "information_content": 95.4}
{"id": "NCBIGene:115861", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NXNL1", "equivalent_identifiers": ["NCBIGene:115861", "ENSEMBL:ENSG00000171773", "HGNC:25179", "OMIM:608791", "UMLS:C1540142", "UniProtKB:Q96CM4", "PR:Q96CM4", "ENSEMBL:ENSP00000305631", "ENSEMBL:ENSP00000305631.2", "UMLS:C1454605", "MESH:C488098"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homer protein homolog 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSB8-1", "PR:Q9NSB8-1", "ENSEMBL:ENSP00000305632", "ENSEMBL:ENSP00000305632.8"], "information_content": 100.0}
{"id": "NCBIGene:10791", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VAMP5", "equivalent_identifiers": ["NCBIGene:10791", "ENSEMBL:ENSG00000168899", "HGNC:12646", "OMIM:607029", "UMLS:C1421422", "UniProtKB:O95183", "PR:O95183", "ENSEMBL:ENSP00000305647", "ENSEMBL:ENSP00000305647.4", "UMLS:C1313758", "MESH:C485545", "UniProtKB:Q6FG93"], "information_content": 100.0}
{"id": "NCBIGene:3627", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCL10", "equivalent_identifiers": ["NCBIGene:3627", "ENSEMBL:ENSG00000169245", "HGNC:10637", "OMIM:147310", "UMLS:C1367714", "UniProtKB:P02778", "PR:P02778", "ENSEMBL:ENSP00000305651", "ENSEMBL:ENSP00000305651.1", "UMLS:C1308752", "MESH:C114753"], "information_content": 84.8}
{"id": "UniProtKB:O95202-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial proton/calcium exchanger protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95202-1", "PR:O95202-1", "ENSEMBL:ENSP00000305653", "ENSEMBL:ENSP00000305653.2"], "information_content": 100.0}
{"id": "NCBIGene:8436", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAVIN2", "equivalent_identifiers": ["NCBIGene:8436", "ENSEMBL:ENSG00000168497", "HGNC:10690", "OMIM:606728", "UMLS:C1419916", "UniProtKB:O95810", "PR:O95810", "ENSEMBL:ENSP00000305675", "ENSEMBL:ENSP00000305675.4", "UMLS:C1431303", "MESH:C112303"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYK5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein mL39 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYK5-2", "PR:Q9NYK5-2", "ENSEMBL:ENSP00000305682", "ENSEMBL:ENSP00000305682.7"], "information_content": 100.0}
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{"id": "UniProtKB:Q8N0V3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative ribosome-binding factor A, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N0V3-1", "PR:Q8N0V3-1", "ENSEMBL:ENSP00000305696", "ENSEMBL:ENSP00000305696.4"], "information_content": 100.0}
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{"id": "MONDO:0013606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 9", "equivalent_identifiers": ["MONDO:0013606", "DOID:0060547", "OMIM:614171", "UMLS:C3280026", "medgen:481656"], "information_content": 100.0}
{"id": "NCBIGene:146212", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCTD19", "equivalent_identifiers": ["NCBIGene:146212", "ENSEMBL:ENSG00000168676", "HGNC:24753", "OMIM:619943", "UMLS:C1537439", "UniProtKB:Q17RG1", "PR:Q17RG1", "ENSEMBL:ENSP00000305702", "ENSEMBL:ENSP00000305702.5", "UMLS:C5882358", "MESH:C000729917"], "information_content": 100.0}
{"id": "UniProtKB:P13497-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bone morphogenetic protein 1 isoform hBMP1-3 (human)", "equivalent_identifiers": ["UniProtKB:P13497-1", "PR:P13497-1", "ENSEMBL:ENSP00000305714", "ENSEMBL:ENSP00000305714.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2D0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inhibitor of Bruton tyrosine kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2D0-1", "PR:Q9P2D0-1", "ENSEMBL:ENSP00000305721", "ENSEMBL:ENSP00000305721.7", "ENSEMBL:ENSP00000489389", "ENSEMBL:ENSP00000489389.1"], "information_content": 100.0}
{"id": "MONDO:0850368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunoglobulin heavy-and-light chain", "equivalent_identifiers": ["MONDO:0850368", "DOID:0080935"], "information_content": 100.0}
{"id": "UniProtKB:Q9NPF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carbohydrate sulfotransferase 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPF2-1", "PR:Q9NPF2-1", "ENSEMBL:ENSP00000305725", "ENSEMBL:ENSP00000305725.5"], "information_content": 100.0}
{"id": "MONDO:0002523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucinoses", "equivalent_identifiers": ["MONDO:0002523", "DOID:3141", "UMLS:C0162855", "UMLS:C1274171", "MESH:D017520", "SNOMEDCT:11528001", "SNOMEDCT:402721001", "medgen:56520", "icd11.foundation:2018255084"], "information_content": 80.6}
{"id": "NCBIGene:1469", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CST1", "equivalent_identifiers": ["NCBIGene:1469", "ENSEMBL:ENSG00000170373", "HGNC:2473", "OMIM:123855", "UMLS:C1413770", "UniProtKB:P01037", "PR:P01037", "ENSEMBL:ENSP00000305731", "ENSEMBL:ENSP00000305731.2", "ENSEMBL:ENSP00000381439", "ENSEMBL:ENSP00000381439.1", "UMLS:C2000968", "MESH:C525171"], "information_content": 100.0}
{"id": "MONDO:0007098", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ACys amyloidosis", "equivalent_identifiers": ["MONDO:0007098", "DOID:0070027", "OMIM:105150", "orphanet:100008", "UMLS:C1527338", "SNOMEDCT:703220002", "medgen:279656"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000305742", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000305742", "equivalent_identifiers": ["ENSEMBL:ENSP00000305742"]}
{"id": "MONDO:0006730", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "drug psychosis", "equivalent_identifiers": ["MONDO:0006730", "DOID:1742", "EFO:1000902", "UMLS:C0033937", "MESH:D011605", "MEDDRA:10013708", "SNOMEDCT:191483003", "medgen:46195", "ICD9:292.1"], "information_content": 100.0}
{"id": "NCBIGene:259249", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRGPRX1", "equivalent_identifiers": ["NCBIGene:259249", "ENSEMBL:ENSG00000170255", "HGNC:17962", "OMIM:607227", "UMLS:C1826279", "UniProtKB:Q96LB2", "PR:Q96LB2", "ENSEMBL:ENSP00000305766", "ENSEMBL:ENSP00000305766.3", "ENSEMBL:ENSP00000499076", "ENSEMBL:ENSP00000499076.2", "UMLS:C1722278", "UniProtKB:W8W3P5"], "information_content": 100.0}
{"id": "UniProtKB:Q15797-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mothers against decapentaplegic homolog 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15797-1", "PR:Q15797-1", "ENSEMBL:ENSP00000305769", "ENSEMBL:ENSP00000305769.4", "ENSEMBL:ENSP00000377652", "ENSEMBL:ENSP00000377652.2", "ENSEMBL:ENSP00000426568", "ENSEMBL:ENSP00000426568.1"], "information_content": 92.8}
{"id": "UniProtKB:Q15393-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "splicing factor 3B subunit 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15393-1", "PR:Q15393-1", "ENSEMBL:ENSP00000305790", "ENSEMBL:ENSP00000305790.5"], "information_content": 100.0}
{"id": "NCBIGene:53407", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STX18", "equivalent_identifiers": ["NCBIGene:53407", "ENSEMBL:ENSG00000168818", "HGNC:15942", "OMIM:606046", "UMLS:C1423847", "UniProtKB:Q9P2W9", "PR:Q9P2W9", "ENSEMBL:ENSP00000305810", "ENSEMBL:ENSP00000305810.2"], "information_content": 95.4}
{"id": "MONDO:0006664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect", "equivalent_identifiers": ["MONDO:0006664", "DOID:1882", "OMIM.PS:108800", "orphanet:1478", "EFO:1000825", "UMLS:C0018817", "MESH:D006344", "MEDDRA:10003664", "MEDDRA:10003666", "MEDDRA:10010377", "MEDDRA:10019308", "MEDDRA:10040055", "NCIT:C84473", "SNOMEDCT:253366007", "SNOMEDCT:405752007", "SNOMEDCT:70142008", "medgen:6753", "HP:0001631"], "information_content": 81.7}
{"id": "UniProtKB:Q7Z2K8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G protein-regulated inducer of neurite outgrowth 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2K8-1", "PR:Q7Z2K8-1", "ENSEMBL:ENSP00000305839", "ENSEMBL:ENSP00000305839.4"], "information_content": 100.0}
{"id": "NCBIGene:7104", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TM4SF4", "equivalent_identifiers": ["NCBIGene:7104", "ENSEMBL:ENSG00000169903", "HGNC:11856", "OMIM:606567", "UMLS:C1420764", "UniProtKB:P48230", "PR:P48230", "ENSEMBL:ENSP00000305852", "ENSEMBL:ENSP00000305852.4", "UMLS:C1312612", "MESH:C429031"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "shieldin complex subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYI0-1", "PR:Q8IYI0-1", "ENSEMBL:ENSP00000305875", "ENSEMBL:ENSP00000305875.6"], "information_content": 100.0}
{"id": "NCBIGene:10316", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NMUR1", "equivalent_identifiers": ["NCBIGene:10316", "ENSEMBL:ENSG00000171596", "HGNC:4518", "OMIM:604153", "UMLS:C1538474", "UniProtKB:Q9HB89", "PR:Q9HB89", "ENSEMBL:ENSP00000305877", "ENSEMBL:ENSP00000305877.4", "UMLS:C4508731", "MESH:C000621811"], "information_content": 100.0}
{"id": "UniProtKB:Q9BTX3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 208 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTX3-1", "PR:Q9BTX3-1", "ENSEMBL:ENSP00000305892", "ENSEMBL:ENSP00000305892.9"], "information_content": 100.0}
{"id": "MONDO:0001790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal cord lipoma", "equivalent_identifiers": ["MONDO:0001790", "DOID:13743", "orphanet:645276", "UMLS:C0347446", "MEDDRA:10064898", "NCIT:C4619", "SNOMEDCT:189017000", "medgen:91131"], "information_content": 83.6}
{"id": "MONDO:0004077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lumbosacral lipoma", "equivalent_identifiers": ["MONDO:0004077", "DOID:7017", "UMLS:C1334438", "NCIT:C6500", "medgen:232708"], "information_content": 100.0}
{"id": "UniProtKB:Q4FZB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase KMT5B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4FZB7-1", "PR:Q4FZB7-1", "ENSEMBL:ENSP00000305899", "ENSEMBL:ENSP00000305899.4", "ENSEMBL:ENSP00000484858", "ENSEMBL:ENSP00000484858.1"], "information_content": 100.0}
{"id": "NCBIGene:8433", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UTF1", "equivalent_identifiers": ["NCBIGene:8433", "ENSEMBL:ENSG00000171794", "HGNC:12634", "OMIM:604130", "UMLS:C1421411", "UniProtKB:Q5T230", "PR:Q5T230", "ENSEMBL:ENSP00000305906", "ENSEMBL:ENSP00000305906.2", "UMLS:C1436389", "MESH:C484738"], "information_content": 100.0}
{"id": "UniProtKB:Q15059-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15059-1", "PR:Q15059-1", "ENSEMBL:ENSP00000305918", "ENSEMBL:ENSP00000305918.6"], "information_content": 100.0}
{"id": "NCBIGene:203100", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTRA4", "equivalent_identifiers": ["NCBIGene:203100", "ENSEMBL:ENSG00000169495", "HGNC:26909", "OMIM:610700", "UMLS:C1537394", "UniProtKB:P83105", "PR:P83105", "ENSEMBL:ENSP00000305919", "ENSEMBL:ENSP00000305919.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6NUP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NUP7-1", "PR:Q6NUP7-1", "ENSEMBL:ENSP00000305924", "ENSEMBL:ENSP00000305924.3", "ENSEMBL:ENSP00000480902", "ENSEMBL:ENSP00000480902.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TE49-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "OTU domain-containing protein 7A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TE49-2", "PR:Q8TE49-2", "ENSEMBL:ENSP00000305926", "ENSEMBL:ENSP00000305926.5"], "information_content": 100.0}
{"id": "UniProtKB:O75445-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "usherin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75445-1", "PR:O75445-1", "ENSEMBL:ENSP00000305941", "ENSEMBL:ENSP00000305941.3"], "information_content": 100.0}
{"id": "MONDO:0013316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "occult macular dystrophy", "equivalent_identifiers": ["MONDO:0013316", "DOID:0050578", "OMIM:613587", "orphanet:247834", "UMLS:C3150833", "SNOMEDCT:770667002", "medgen:462183", "icd11.foundation:863463706", "HP:0030636"], "information_content": 100.0}
{"id": "UniProtKB:P46721-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier organic anion transporter family member 1A2 isoform hOATP1a (human)", "equivalent_identifiers": ["UniProtKB:P46721-1", "PR:P46721-1", "ENSEMBL:ENSP00000305974", "ENSEMBL:ENSP00000305974.6", "ENSEMBL:ENSP00000508235", "ENSEMBL:ENSP00000508235.1"], "information_content": 100.0}
{"id": "NCBIGene:23235", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIK2", "equivalent_identifiers": ["NCBIGene:23235", "ENSEMBL:ENSG00000170145", "HGNC:21680", "OMIM:608973", "UMLS:C1539799", "UniProtKB:Q9H0K1", "PR:Q9H0K1", "ENSEMBL:ENSP00000305976", "ENSEMBL:ENSP00000305976.3", "UMLS:C2973380", "MESH:C551842"], "information_content": 95.4}
{"id": "UniProtKB:Q13740-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD166 antigen isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13740-1", "PR:Q13740-1", "ENSEMBL:ENSP00000305988", "ENSEMBL:ENSP00000305988.5"], "information_content": 100.0}
{"id": "NCBIGene:5232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGK2", "equivalent_identifiers": ["NCBIGene:5232", "ENSEMBL:ENSG00000170950", "HGNC:8898", "OMIM:172270", "UMLS:C1418510", "UniProtKB:A0A140VJR3", "UMLS:C0535699", "UniProtKB:P07205", "PR:P07205", "ENSEMBL:ENSP00000305995", "ENSEMBL:ENSP00000305995.3"], "information_content": 100.0}
{"id": "NCBIGene:521", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP5ME", "equivalent_identifiers": ["NCBIGene:521", "ENSEMBL:ENSG00000169020", "HGNC:846", "OMIM:601519", "UMLS:C1412667", "UniProtKB:P56385", "PR:P56385", "ENSEMBL:ENSP00000306003", "ENSEMBL:ENSP00000306003.4", "UMLS:C1143256", "MESH:C465022"], "information_content": 95.4}
{"id": "NCBIGene:378", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARF4", "equivalent_identifiers": ["NCBIGene:378", "ENSEMBL:ENSG00000168374", "HGNC:655", "OMIM:601177", "UMLS:C1412507", "UniProtKB:P18085", "PR:P18085", "ENSEMBL:ENSP00000306010", "ENSEMBL:ENSP00000306010.6", "UMLS:C1429330", "MESH:C116688"], "information_content": 90.9}
{"id": "UniProtKB:Q9UMS6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptopodin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMS6-2", "PR:Q9UMS6-2", "ENSEMBL:ENSP00000306015", "ENSEMBL:ENSP00000306015.4"], "information_content": 100.0}
{"id": "MONDO:0033007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 3", "equivalent_identifiers": ["MONDO:0033007", "DOID:0080245", "OMIM:617729", "UMLS:C4540266", "medgen:1627611"], "information_content": 100.0}
{"id": "UniProtKB:P53370-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoside diphosphate-linked moiety X motif 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P53370-1", "PR:P53370-1", "ENSEMBL:ENSP00000306070", "ENSEMBL:ENSP00000306070.5"], "information_content": 100.0}
{"id": "MONDO:0100168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "desmoid tumor caused by somatic mutation", "equivalent_identifiers": ["MONDO:0100168", "DOID:0111349", "UMLS:C2675440", "medgen:436434"], "information_content": 100.0}
{"id": "NCBIGene:55178", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRM3", "equivalent_identifiers": ["NCBIGene:55178", "ENSEMBL:ENSG00000171861", "HGNC:18485", "OMIM:612600", "UMLS:C1425547", "UniProtKB:Q9HC36", "PR:Q9HC36", "ENSEMBL:ENSP00000306080", "ENSEMBL:ENSP00000306080.4", "UMLS:C4042738", "MESH:C000594763"], "information_content": 95.4}
{"id": "NCBIGene:2244", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGB", "equivalent_identifiers": ["NCBIGene:2244", "ENSEMBL:ENSG00000171564", "HGNC:3662", "OMIM:134830", "UMLS:C1414593", "UniProtKB:P02675", "PR:P02675", "ENSEMBL:ENSP00000306099", "ENSEMBL:ENSP00000306099.4", "UMLS:C3884250", "MESH:C000592498", "UniProtKB:V9HVY1"], "information_content": 79.9}
{"id": "NCBIGene:5066", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAM", "equivalent_identifiers": ["NCBIGene:5066", "ENSEMBL:ENSG00000145730", "HGNC:8596", "OMIM:170270", "UMLS:C1456357", "UniProtKB:A0A804HIQ0", "ENSEMBL:ENSP00000507172", "ENSEMBL:ENSP00000507172.1", "UMLS:C2742138", "MESH:C544787", "UniProtKB:A0A804HKM7", "ENSEMBL:ENSP00000507990", "ENSEMBL:ENSP00000507990.1", "UniProtKB:A0A804HKV8", "ENSEMBL:ENSP00000508091", "ENSEMBL:ENSP00000508091.1", "UniProtKB:A0A8C8KD64", "ENSEMBL:ENSP00000306100", "ENSEMBL:ENSP00000306100.8", "UniProtKB:O43832", "UniProtKB:P19021", "PR:P19021"]}
{"id": "MONDO:0017416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postpoliomyelitis syndrome", "equivalent_identifiers": ["MONDO:0017416", "DOID:4952", "orphanet:2942", "EFO:0007454", "UMLS:C0080040", "MESH:D016262", "MEDDRA:10036239", "SNOMEDCT:31097004", "medgen:36363", "icd11.foundation:2018885243", "ICD10:G14"], "information_content": 100.0}
{"id": "UniProtKB:Q96ST8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 89 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96ST8-1", "PR:Q96ST8-1", "ENSEMBL:ENSP00000306105", "ENSEMBL:ENSP00000306105.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUU7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent RNA helicase DDX19A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUU7-1", "PR:Q9NUU7-1", "ENSEMBL:ENSP00000306117", "ENSEMBL:ENSP00000306117.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9BWH6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA polymerase II-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWH6-1", "PR:Q9BWH6-1", "ENSEMBL:ENSP00000306123", "ENSEMBL:ENSP00000306123.4"], "information_content": 100.0}
{"id": "MONDO:0013274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 51", "equivalent_identifiers": ["MONDO:0013274", "DOID:0110398", "OMIM:613464", "UMLS:C3150715", "medgen:462065"], "information_content": 100.0}
{"id": "NCBIGene:5581", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRKCE", "equivalent_identifiers": ["NCBIGene:5581", "ENSEMBL:ENSG00000171132", "HGNC:9401", "OMIM:176975", "UMLS:C1418918", "UniProtKB:L7RTI5", "UniProtKB:Q02156", "PR:Q02156", "ENSEMBL:ENSP00000306124", "ENSEMBL:ENSP00000306124.3", "UMLS:C1566340", "MESH:C497255"], "information_content": 92.8}
{"id": "NCBIGene:1816", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRD5", "equivalent_identifiers": ["NCBIGene:1816", "ENSEMBL:ENSG00000169676", "HGNC:3026", "OMIM:126453", "UMLS:C1333255", "UniProtKB:P21918", "PR:P21918", "ENSEMBL:ENSP00000306129", "ENSEMBL:ENSP00000306129.2", "UMLS:C1529472", "MESH:C493605"], "information_content": 100.0}
{"id": "UniProtKB:P41594-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metabotropic glutamate receptor 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P41594-1", "PR:P41594-1", "ENSEMBL:ENSP00000306138", "ENSEMBL:ENSP00000306138.4"], "information_content": 100.0}
{"id": "UniProtKB:P16871-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-7 receptor subunit alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P16871-1", "PR:P16871-1", "ENSEMBL:ENSP00000306157", "ENSEMBL:ENSP00000306157.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZV1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZV1-1", "PR:Q9GZV1-1", "ENSEMBL:ENSP00000306163", "ENSEMBL:ENSP00000306163.5"], "information_content": 100.0}
{"id": "UniProtKB:P58335-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anthrax toxin receptor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P58335-1", "PR:P58335-1", "ENSEMBL:ENSP00000306185", "ENSEMBL:ENSP00000306185.6"], "information_content": 95.4}
{"id": "MONDO:0001701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastrointestinal anthrax", "equivalent_identifiers": ["MONDO:0001701", "DOID:13386", "UMLS:C0152945", "MESH:C571911", "MEDDRA:10017931", "SNOMEDCT:111798006", "medgen:102256", "icd11.foundation:1800193089", "ICD10:A22.2", "ICD9:022.2"], "information_content": 95.4}
{"id": "MONDO:0009530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipoid proteinosis", "equivalent_identifiers": ["MONDO:0009530", "DOID:14498", "OMIM:247100", "orphanet:530", "UMLS:C0023795", "MESH:D008065", "MEDDRA:10051661", "NCIT:C84829", "SNOMEDCT:38692000", "medgen:6112", "icd11.foundation:326368380"], "information_content": 100.0}
{"id": "MONDO:0013556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 4", "equivalent_identifiers": ["MONDO:0013556", "DOID:0060542", "OMIM:614073", "UMLS:C3484357", "medgen:483344"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4V1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ER membrane protein complex subunit 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4V1-1", "PR:Q8N4V1-1", "ENSEMBL:ENSP00000306220", "ENSEMBL:ENSP00000306220.2", "ENSEMBL:ENSP00000505226", "ENSEMBL:ENSP00000505226.1"], "information_content": 100.0}
{"id": "UniProtKB:P01100-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein c-Fos isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P01100-1", "PR:P01100-1", "ENSEMBL:ENSP00000306245", "ENSEMBL:ENSP00000306245.4"], "information_content": 95.4}
{"id": "UniProtKB:A0A8C8KBY2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A8C8KBY2_HUMAN Inositol 1,4,5-trisphosphate receptor (trembl)", "equivalent_identifiers": ["UniProtKB:A0A8C8KBY2", "ENSEMBL:ENSP00000306253", "ENSEMBL:ENSP00000306253.9"]}
{"id": "UniProtKB:Q8N1N4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin, type II cytoskeletal 78 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1N4-1", "PR:Q8N1N4-1", "ENSEMBL:ENSP00000306261", "ENSEMBL:ENSP00000306261.4"], "information_content": 100.0}
{"id": "NCBIGene:3777", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNK3", "equivalent_identifiers": ["NCBIGene:3777", "ENSEMBL:ENSG00000171303", "HGNC:6278", "OMIM:603220", "UMLS:C1416596", "UniProtKB:O14649", "PR:O14649", "ENSEMBL:ENSP00000306275", "ENSEMBL:ENSP00000306275.3", "UMLS:C1447593"], "information_content": 100.0}
{"id": "NCBIGene:7164", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPD52L1", "equivalent_identifiers": ["NCBIGene:7164", "ENSEMBL:ENSG00000111907", "HGNC:12006", "OMIM:604069", "UMLS:C1336661", "UniProtKB:E9PPQ1", "ENSEMBL:ENSP00000436953", "ENSEMBL:ENSP00000436953.1", "UniProtKB:J3KNE7", "ENSEMBL:ENSP00000306285", "ENSEMBL:ENSP00000306285.13", "UniProtKB:Q16890", "PR:Q16890", "UMLS:C1314855", "MESH:C486416"]}
{"id": "NCBIGene:84520", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GON7", "equivalent_identifiers": ["NCBIGene:84520", "ENSEMBL:ENSG00000170270", "HGNC:20356", "OMIM:617436", "UMLS:C4320392", "UniProtKB:Q9BXV9", "PR:Q9BXV9", "ENSEMBL:ENSP00000306320", "ENSEMBL:ENSP00000306320.4", "ENSEMBL:ENSP00000478863", "ENSEMBL:ENSP00000478863.1", "UMLS:C5226351", "MESH:C000656360"], "information_content": 100.0}
{"id": "UniProtKB:Q6NUJ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PWWP domain-containing protein 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NUJ5-1", "PR:Q6NUJ5-1", "ENSEMBL:ENSP00000306324", "ENSEMBL:ENSP00000306324.5"], "information_content": 100.0}
{"id": "NCBIGene:84275", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A33", "equivalent_identifiers": ["NCBIGene:84275", "ENSEMBL:ENSG00000171612", "HGNC:29681", "OMIM:610816", "UMLS:C1822743", "UniProtKB:Q9BSK2", "PR:Q9BSK2", "ENSEMBL:ENSP00000306328", "ENSEMBL:ENSP00000306328.5", "UMLS:C1436987", "MESH:C483480"], "information_content": 100.0}
{"id": "NCBIGene:7532", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YWHAG", "equivalent_identifiers": ["NCBIGene:7532", "ENSEMBL:ENSG00000170027", "HGNC:12852", "OMIM:605356", "UMLS:C1421561", "UniProtKB:P61981", "PR:P61981", "ENSEMBL:ENSP00000306330", "ENSEMBL:ENSP00000306330.3", "UMLS:C4307504", "MESH:C000610447"], "information_content": 89.4}
{"id": "UniProtKB:P48378-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-binding protein RFX2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48378-1", "PR:P48378-1", "ENSEMBL:ENSP00000306335", "ENSEMBL:ENSP00000306335.4", "ENSEMBL:ENSP00000352076", "ENSEMBL:ENSP00000352076.3"], "information_content": 100.0}
{"id": "NCBIGene:8999", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDKL2", "equivalent_identifiers": ["NCBIGene:8999", "ENSEMBL:ENSG00000138769", "HGNC:1782", "OMIM:603442", "UMLS:C1332736", "UniProtKB:A0A140VJG1", "UniProtKB:B4DH08", "UniProtKB:J3KNE8", "ENSEMBL:ENSP00000306340", "ENSEMBL:ENSP00000306340.4", "UniProtKB:Q92772", "PR:Q92772", "ENSEMBL:ENSP00000412365", "ENSEMBL:ENSP00000412365.2", "UMLS:C0534157", "MESH:C103570"]}
{"id": "UniProtKB:Q86UB9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 135 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UB9-1", "PR:Q86UB9-1", "ENSEMBL:ENSP00000306344", "ENSEMBL:ENSP00000306344.5"], "information_content": 100.0}
{"id": "UniProtKB:O75347-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin-specific chaperone A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75347-2", "PR:O75347-2", "ENSEMBL:ENSP00000306362", "ENSEMBL:ENSP00000306362.6"], "information_content": 100.0}
{"id": "NCBIGene:149603", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF187", "equivalent_identifiers": ["NCBIGene:149603", "ENSEMBL:ENSG00000168159", "HGNC:27146", "OMIM:613754", "UMLS:C1826840", "UniProtKB:Q5TA31", "PR:Q5TA31", "ENSEMBL:ENSP00000306396", "ENSEMBL:ENSP00000306396.9", "ENSEMBL:ENSP00000495836", "ENSEMBL:ENSP00000495836.2", "UMLS:C3657028", "MESH:C582733"], "information_content": 95.4}
{"id": "MONDO:0001546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypermobility of coccyx", "equivalent_identifiers": ["MONDO:0001546", "DOID:12537", "UMLS:C0158295", "MEDDRA:10020676", "SNOMEDCT:202809009", "medgen:510502", "icd11.foundation:588794167", "ICD9:724.71"], "information_content": 100.0}
{"id": "MONDO:0010139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated thyroid-stimulating hormone deficiency", "equivalent_identifiers": ["MONDO:0010139", "DOID:0070123", "OMIM:275100", "orphanet:90674", "UMLS:C0271789", "UMLS:C1848794", "UMLS:C3665349", "UMLS:C4082174", "MESH:C000603735", "MESH:C000610012", "MESH:C564765", "MEDDRA:10039840", "MEDDRA:10049517", "MEDDRA:10078564", "MEDDRA:10078571", "MEDDRA:10078572", "MEDDRA:10090564", "NCIT:C121743", "SNOMEDCT:82598004", "SNOMEDCT:89261000", "medgen:78786", "HP:0008245"], "information_content": 100.0}
{"id": "NCBIGene:7386", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UQCRFS1", "equivalent_identifiers": ["NCBIGene:7386", "ENSEMBL:ENSG00000169021", "HGNC:12587", "OMIM:191327", "UMLS:C1421371", "UniProtKB:P47985", "PR:P47985", "ENSEMBL:ENSP00000306397", "ENSEMBL:ENSP00000306397.3", "UMLS:C3659947", "MESH:C579514"], "information_content": 90.9}
{"id": "UniProtKB:Q5T2S8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "outer dynein arm-docking complex subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T2S8-1", "PR:Q5T2S8-1", "ENSEMBL:ENSP00000306410", "ENSEMBL:ENSP00000306410.5", "ENSEMBL:ENSP00000500782", "ENSEMBL:ENSP00000500782.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUK0-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUK0-4", "PR:Q9BUK0-4", "ENSEMBL:ENSP00000306425", "ENSEMBL:ENSP00000306425.3"], "information_content": 100.0}
{"id": "MONDO:0002191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syringoma", "equivalent_identifiers": ["MONDO:0002191", "DOID:2065", "UMLS:C0206673", "MESH:D018252", "MEDDRA:10042927", "NCIT:C3761", "SNOMEDCT:302828001", "SNOMEDCT:71244007", "medgen:60205", "icd11.foundation:1091480008"], "information_content": 92.8}
{"id": "MONDO:0011933", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALG2-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011933", "DOID:0080561", "OMIM:607906", "orphanet:79326", "UMLS:C1842836", "MESH:C000623088", "SNOMEDCT:897592003", "medgen:334618"], "information_content": 95.4}
{"id": "NCBIGene:2861", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR37", "equivalent_identifiers": ["NCBIGene:2861", "ENSEMBL:ENSG00000170775", "HGNC:4494", "OMIM:602583", "UMLS:C1415231", "UniProtKB:O15354", "PR:O15354", "ENSEMBL:ENSP00000306449", "ENSEMBL:ENSP00000306449.2", "UMLS:C1434225", "MESH:C480827"], "information_content": 89.4}
{"id": "UniProtKB:Q9UBX8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-1,4-galactosyltransferase 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBX8-1", "PR:Q9UBX8-1", "ENSEMBL:ENSP00000306459", "ENSEMBL:ENSP00000306459.5"], "information_content": 100.0}
{"id": "NCBIGene:6699", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPRR1B", "equivalent_identifiers": ["NCBIGene:6699", "ENSEMBL:ENSG00000169469", "HGNC:11260", "OMIM:182266", "UMLS:C1420373", "UniProtKB:P22528", "PR:P22528", "ENSEMBL:ENSP00000306461", "ENSEMBL:ENSP00000306461.4", "UMLS:C1447204", "MESH:C524533"], "information_content": 100.0}
{"id": "MONDO:0006530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholesteatoma", "equivalent_identifiers": ["MONDO:0006530", "DOID:869", "EFO:1000675", "UMLS:C0008373", "MESH:D002781", "MEDDRA:10008642", "MEDDRA:10008648", "NCIT:C2944", "SNOMEDCT:363668000", "SNOMEDCT:575006", "medgen:3043", "ICD10:H71.9", "ICD9:385.30", "HP:0009797"], "information_content": 89.4}
{"id": "NCBIGene:79801", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SHCBP1", "equivalent_identifiers": ["NCBIGene:79801", "ENSEMBL:ENSG00000171241", "HGNC:29547", "OMIM:611027", "UMLS:C1539766", "UniProtKB:Q8NEM2", "PR:Q8NEM2", "ENSEMBL:ENSP00000306473", "ENSEMBL:ENSP00000306473.3", "UMLS:C4041806", "MESH:C000599466"], "information_content": 89.4}
{"id": "UniProtKB:P11229-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "muscarinic acetylcholine receptor M1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P11229-1", "PR:P11229-1", "ENSEMBL:ENSP00000306490", "ENSEMBL:ENSP00000306490.3"], "information_content": 100.0}
{"id": "NCBIGene:83452", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB33B", "equivalent_identifiers": ["NCBIGene:83452", "ENSEMBL:ENSG00000172007", "HGNC:16075", "OMIM:605950", "UMLS:C1423958", "UniProtKB:A0A494C0Z5", "ENSEMBL:ENSP00000498778", "ENSEMBL:ENSP00000498778.1", "UMLS:C1313684", "MESH:C486397", "UniProtKB:Q9H082", "PR:Q9H082", "ENSEMBL:ENSP00000306496", "ENSEMBL:ENSP00000306496.5"], "information_content": 92.8}
{"id": "NCBIGene:3761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNJ4", "equivalent_identifiers": ["NCBIGene:3761", "ENSEMBL:ENSG00000168135", "HGNC:6265", "OMIM:600504", "UMLS:C1416586", "UniProtKB:P48050", "PR:P48050", "ENSEMBL:ENSP00000306497", "ENSEMBL:ENSP00000306497.3", "UMLS:C1505155", "MESH:C099489", "UniProtKB:Q58F07"], "information_content": 95.4}
{"id": "NCBIGene:3576", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCL8", "equivalent_identifiers": ["NCBIGene:3576", "ENSEMBL:ENSG00000169429", "HGNC:6025", "OMIM:146930", "UMLS:C1366571", "UniProtKB:C9J4T6", "ENSEMBL:ENSP00000385908", "ENSEMBL:ENSP00000385908.1", "UniProtKB:P10145", "PR:P10145", "ENSEMBL:ENSP00000306512", "ENSEMBL:ENSP00000306512.3", "UMLS:C1698756", "MESH:C508606"], "information_content": 89.4}
{"id": "UniProtKB:Q9Y6Y1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calmodulin-binding transcription activator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6Y1-1", "PR:Q9Y6Y1-1", "ENSEMBL:ENSP00000306522", "ENSEMBL:ENSP00000306522.6"], "information_content": 100.0}
{"id": "MONDO:0010334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome", "equivalent_identifiers": ["MONDO:0010334", "DOID:0112123", "OMIM:300475", "orphanet:369939", "UMLS:C3806634", "MESH:C564508", "SNOMEDCT:773415005", "medgen:812964"], "information_content": 100.0}
{"id": "MONDO:0024286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign blood vessel neoplasm", "equivalent_identifiers": ["MONDO:0024286", "DOID:60006", "UMLS:C0685121", "NCIT:C8537", "SNOMEDCT:400110009", "SNOMEDCT:92017000", "medgen:195779"], "information_content": 68.1}
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{"id": "MONDO:0012409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated microphthalmia 2", "equivalent_identifiers": ["MONDO:0012409", "DOID:0060839", "OMIM:610093", "UMLS:C1864720", "MESH:C566446", "medgen:351204"], "information_content": 95.4}
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{"id": "UniProtKB:Q96AZ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon-stimulated gene 20 kDa protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AZ6-1", "PR:Q96AZ6-1", "ENSEMBL:ENSP00000306565", "ENSEMBL:ENSP00000306565.5", "ENSEMBL:ENSP00000368526", "ENSEMBL:ENSP00000368526.6", "ENSEMBL:ENSP00000453638", "ENSEMBL:ENSP00000453638.1"], "information_content": 100.0}
{"id": "UniProtKB:P00325-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P00325-1", "PR:P00325-1", "ENSEMBL:ENSP00000306606", "ENSEMBL:ENSP00000306606.8"], "information_content": 100.0}
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{"id": "NCBIGene:147", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADRA1B", "equivalent_identifiers": ["NCBIGene:147", "ENSEMBL:ENSG00000170214", "HGNC:278", "OMIM:104220", "UMLS:C1332027", "UniProtKB:P35368", "PR:P35368", "ENSEMBL:ENSP00000306662", "ENSEMBL:ENSP00000306662.3", "UMLS:C2932396", "MESH:C547716"], "information_content": 100.0}
{"id": "NCBIGene:255239", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKK1", "equivalent_identifiers": ["NCBIGene:255239", "ENSEMBL:ENSG00000170209", "HGNC:21027", "OMIM:608774", "UMLS:C1427255", "UniProtKB:Q8NFD2", "PR:Q8NFD2", "ENSEMBL:ENSP00000306678", "ENSEMBL:ENSP00000306678.3", "UMLS:C1506381", "MESH:C489948"], "information_content": 100.0}
{"id": "UniProtKB:O15297-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15297-1", "PR:O15297-1", "ENSEMBL:ENSP00000306682", "ENSEMBL:ENSP00000306682.2"], "information_content": 100.0}
{"id": "UniProtKB:A0A499FJE1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A499FJE1_HUMAN BolA-like protein 2 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A499FJE1", "ENSEMBL:ENSP00000306752", "ENSEMBL:ENSP00000306752.4"]}
{"id": "NCBIGene:4761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEUROD2", "equivalent_identifiers": ["NCBIGene:4761", "ENSEMBL:ENSG00000171532", "HGNC:7763", "OMIM:601725", "UMLS:C1417684", "UniProtKB:Q15784", "PR:Q15784", "ENSEMBL:ENSP00000306754", "ENSEMBL:ENSP00000306754.4", "UMLS:C1452453", "MESH:C490925"], "information_content": 95.4}
{"id": "MONDO:0013866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 11", "equivalent_identifiers": ["MONDO:0013866", "DOID:0110732", "OMIM:614706", "orphanet:314629", "UMLS:C3539123", "NCIT:C188214", "medgen:761331"], "information_content": 100.0}
{"id": "NCBIGene:201514", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF584", "equivalent_identifiers": ["NCBIGene:201514", "ENSEMBL:ENSG00000171574", "HGNC:27318", "UMLS:C1428651", "UniProtKB:B4DQS1", "UMLS:C4506250", "MESH:C000616852", "UniProtKB:F6W0P0", "ENSEMBL:ENSP00000320731", "ENSEMBL:ENSP00000320731.7", "UniProtKB:M0R0A3", "ENSEMBL:ENSP00000471105", "ENSEMBL:ENSP00000471105.1", "UniProtKB:Q8IVC4", "PR:Q8IVC4", "ENSEMBL:ENSP00000306756", "ENSEMBL:ENSP00000306756.3"], "information_content": 100.0}
{"id": "MONDO:0012355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 28", "equivalent_identifiers": ["MONDO:0012355", "DOID:0110486", "OMIM:609823", "UMLS:C1853276", "MESH:C565218", "NCIT:C129023", "medgen:342839"], "information_content": 100.0}
{"id": "NCBIGene:201255", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC45", "equivalent_identifiers": ["NCBIGene:201255", "ENSEMBL:ENSG00000169683", "HGNC:28302", "UMLS:C1825892", "UniProtKB:Q96CN5", "PR:Q96CN5", "ENSEMBL:ENSP00000306760", "ENSEMBL:ENSP00000306760.3"], "information_content": 92.8}
{"id": "UniProtKB:O43679-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM domain-binding protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43679-1", "PR:O43679-1", "ENSEMBL:ENSP00000306772", "ENSEMBL:ENSP00000306772.5"], "information_content": 100.0}
{"id": "UniProtKB:Q15041-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor-like protein 6-interacting protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15041-1", "PR:Q15041-1", "ENSEMBL:ENSP00000306788", "ENSEMBL:ENSP00000306788.7"], "information_content": 100.0}
{"id": "NCBIGene:57099", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AVEN", "equivalent_identifiers": ["NCBIGene:57099", "ENSEMBL:ENSG00000169857", "HGNC:13509", "OMIM:605265", "UMLS:C1422030", "UniProtKB:Q9NQS1", "PR:Q9NQS1", "ENSEMBL:ENSP00000306822", "ENSEMBL:ENSP00000306822.3", "UMLS:C1447760", "MESH:C412506"], "information_content": 100.0}
{"id": "MONDO:0001161", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizoid personality disorder", "equivalent_identifiers": ["MONDO:0001161", "DOID:10936", "UMLS:C0036339", "MESH:D012557", "MEDDRA:10039623", "MEDDRA:10039624", "MEDDRA:10039625", "NCIT:C92631", "SNOMEDCT:52954000", "medgen:20662", "icd11.foundation:1524611454", "ICD10:F60.1", "ICD9:301.2"], "information_content": 100.0}
{"id": "NCBIGene:54910", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEMA4C", "equivalent_identifiers": ["NCBIGene:54910", "ENSEMBL:ENSG00000168758", "HGNC:10731", "OMIM:604462", "UMLS:C1419949", "UniProtKB:Q9C0C4", "PR:Q9C0C4", "ENSEMBL:ENSP00000306844", "ENSEMBL:ENSP00000306844.5"], "information_content": 90.9}
{"id": "NCBIGene:114990", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VASN", "equivalent_identifiers": ["NCBIGene:114990", "ENSEMBL:ENSG00000168140", "HGNC:18517", "OMIM:608843", "UMLS:C1823617", "UniProtKB:Q6EMK4", "PR:Q6EMK4", "ENSEMBL:ENSP00000306864", "ENSEMBL:ENSP00000306864.3", "ENSEMBL:ENSP00000481884", "ENSEMBL:ENSP00000481884.1", "UMLS:C1505435", "MESH:C488722"], "information_content": 82.6}
{"id": "NCBIGene:11337", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABARAP", "equivalent_identifiers": ["NCBIGene:11337", "ENSEMBL:ENSG00000170296", "HGNC:4067", "OMIM:605125", "UMLS:C1414901", "UniProtKB:O95166", "PR:O95166", "ENSEMBL:ENSP00000306866", "ENSEMBL:ENSP00000306866.5", "UMLS:C0762279", "MESH:C116741", "UniProtKB:Q6IAW1"], "information_content": 95.4}
{"id": "UniProtKB:Q15436-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein transport protein Sec23A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15436-1", "PR:Q15436-1", "ENSEMBL:ENSP00000306881", "ENSEMBL:ENSP00000306881.6"], "information_content": 100.0}
{"id": "MONDO:0009134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital dyserythropoietic anemia type 2", "equivalent_identifiers": ["MONDO:0009134", "DOID:0111401", "OMIM:224100", "orphanet:98873", "UMLS:C1306589", "NCIT:C175991", "SNOMEDCT:68870007", "medgen:266296"], "information_content": 100.0}
{"id": "MONDO:0012504", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CATSHL syndrome", "equivalent_identifiers": ["MONDO:0012504", "DOID:0111160", "OMIM:610474", "orphanet:85164", "UMLS:C1864852", "MESH:C537975", "SNOMEDCT:720601000", "medgen:355844"], "information_content": 100.0}
{"id": "NCBIGene:6373", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCL11", "equivalent_identifiers": ["NCBIGene:6373", "ENSEMBL:ENSG00000169248", "HGNC:10638", "OMIM:604852", "UMLS:C1332816", "UniProtKB:O14625", "PR:O14625", "ENSEMBL:ENSP00000306884", "ENSEMBL:ENSP00000306884.3", "ENSEMBL:ENSP00000425819", "ENSEMBL:ENSP00000425819.1", "UMLS:C1335987", "MESH:C515202"], "information_content": 85.5}
{"id": "UniProtKB:Q9H061-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 126A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H061-1", "PR:Q9H061-1", "ENSEMBL:ENSP00000306887", "ENSEMBL:ENSP00000306887.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8WW52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM151A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WW52-1", "PR:Q8WW52-1", "ENSEMBL:ENSP00000306888", "ENSEMBL:ENSP00000306888.2"], "information_content": 100.0}
{"id": "UniProtKB:P41161-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS translocation variant 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P41161-1", "PR:P41161-1", "ENSEMBL:ENSP00000306894", "ENSEMBL:ENSP00000306894.5", "ENSEMBL:ENSP00000413755", "ENSEMBL:ENSP00000413755.1"], "information_content": 100.0}
{"id": "NCBIGene:23627", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRND", "equivalent_identifiers": ["NCBIGene:23627", "ENSEMBL:ENSG00000171864", "HGNC:15748", "OMIM:604263", "UMLS:C1423700", "UniProtKB:A7U7M2", "UMLS:C1568396", "MESH:C501125", "UniProtKB:Q9UKY0", "PR:Q9UKY0", "ENSEMBL:ENSP00000306900", "ENSEMBL:ENSP00000306900.2"], "information_content": 95.4}
{"id": "MONDO:0012989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 7, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0012989", "DOID:0070278", "OMIM:612703", "UMLS:C2675187", "MESH:C567198", "medgen:436370"], "information_content": 100.0}
{"id": "MONDO:0007445", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatopathia pigmentosa reticularis", "equivalent_identifiers": ["MONDO:0007445", "DOID:0111342", "OMIM:125595", "orphanet:86920", "UMLS:C0406778", "MESH:C535374", "SNOMEDCT:239088003", "medgen:98037"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYD3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein uL4m isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYD3-1", "PR:Q9BYD3-1", "ENSEMBL:ENSP00000253099", "ENSEMBL:ENSP00000253099.5", "ENSEMBL:ENSP00000306902", "ENSEMBL:ENSP00000306902.5"], "information_content": 100.0}
{"id": "NCBIGene:51255", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF181", "equivalent_identifiers": ["NCBIGene:51255", "ENSEMBL:ENSG00000168894", "HGNC:28037", "OMIM:612490", "UMLS:C2239895", "UniProtKB:Q9P0P0", "PR:Q9P0P0", "ENSEMBL:ENSP00000306906", "ENSEMBL:ENSP00000306906.4", "UMLS:C2932284", "MESH:C547603"], "information_content": 92.8}
{"id": "UniProtKB:Q9Y5F7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-C4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5F7-1", "PR:Q9Y5F7-1", "ENSEMBL:ENSP00000306918", "ENSEMBL:ENSP00000306918.1"], "information_content": 100.0}
{"id": "NCBIGene:2720", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLB1", "equivalent_identifiers": ["NCBIGene:2720", "ENSEMBL:ENSG00000170266", "HGNC:4298", "OMIM:611458", "UMLS:C1415090", "UniProtKB:B7Z6Q5", "UniProtKB:E7EQ29", "ENSEMBL:ENSP00000305920", "ENSEMBL:ENSP00000305920.8", "UniProtKB:P16278", "PR:P16278", "ENSEMBL:ENSP00000306920", "ENSEMBL:ENSP00000306920.4", "ENSEMBL:ENSP00000382333", "ENSEMBL:ENSP00000382333.2", "UMLS:C1256865", "MESH:C061901"], "information_content": 82.6}
{"id": "UniProtKB:Q9BWT1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell division cycle-associated protein 7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWT1-2", "PR:Q9BWT1-2", "ENSEMBL:ENSP00000306968", "ENSEMBL:ENSP00000306968.3"], "information_content": 100.0}
{"id": "NCBIGene:138883", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR1N1", "equivalent_identifiers": ["NCBIGene:138883", "ENSEMBL:ENSG00000171505", "HGNC:8221", "UMLS:C1418009", "UniProtKB:A0A126GW31", "UniProtKB:Q8NGS0", "PR:Q8NGS0", "ENSEMBL:ENSP00000306974", "ENSEMBL:ENSP00000306974.2"], "information_content": 100.0}
{"id": "NCBIGene:55689", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YEATS2", "equivalent_identifiers": ["NCBIGene:55689", "ENSEMBL:ENSG00000163872", "HGNC:25489", "OMIM:613373", "UMLS:C1538125", "UniProtKB:Q9ULM3", "PR:Q9ULM3", "ENSEMBL:ENSP00000306983", "ENSEMBL:ENSP00000306983.5", "UMLS:C5433684", "MESH:C000709491"], "information_content": 92.8}
{"id": "NCBIGene:3037", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HAS2", "equivalent_identifiers": ["NCBIGene:3037", "ENSEMBL:ENSG00000170961", "HGNC:4819", "OMIM:601636", "UMLS:C1415475", "UniProtKB:Q92819", "PR:Q92819", "ENSEMBL:ENSP00000306991", "ENSEMBL:ENSP00000306991.4", "UMLS:C1449036", "MESH:C101754"], "information_content": 92.8}
{"id": "NCBIGene:51778", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYOZ2", "equivalent_identifiers": ["NCBIGene:51778", "ENSEMBL:ENSG00000172399", "HGNC:1330", "OMIM:605602", "UMLS:C1413006", "UniProtKB:Q9NPC6", "PR:Q9NPC6", "ENSEMBL:ENSP00000306997", "ENSEMBL:ENSP00000306997.6", "UMLS:C1447874", "MESH:C419779"], "information_content": 95.4}
{"id": "UniProtKB:Q56NI9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetyltransferase ESCO2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q56NI9-1", "PR:Q56NI9-1", "ENSEMBL:ENSP00000306999", "ENSEMBL:ENSP00000306999.8"], "information_content": 100.0}
{"id": "NCBIGene:200558", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APLF", "equivalent_identifiers": ["NCBIGene:200558", "ENSEMBL:ENSG00000169621", "HGNC:28724", "OMIM:611035", "UMLS:C1428740", "UniProtKB:Q8IW19", "PR:Q8IW19", "ENSEMBL:ENSP00000307004", "ENSEMBL:ENSP00000307004.4", "UMLS:C1957832", "MESH:C520557"], "information_content": 95.4}
{"id": "MONDO:0004241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osgood-Schlatter disease", "equivalent_identifiers": ["MONDO:0004241", "DOID:7489", "orphanet:97335", "UMLS:C0029376", "UMLS:C2316563", "MEDDRA:10031130", "MEDDRA:10031238", "NCIT:C34874", "SNOMEDCT:430506003", "SNOMEDCT:72047008", "medgen:10489", "ICD10:M92.52", "HP:0010890"], "information_content": 100.0}
{"id": "NCBIGene:153572", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IRX2", "equivalent_identifiers": ["NCBIGene:153572", "ENSEMBL:ENSG00000170561", "HGNC:14359", "OMIM:606198", "UMLS:C1422591", "UniProtKB:Q9BZI1", "PR:Q9BZI1", "ENSEMBL:ENSP00000307006", "ENSEMBL:ENSP00000307006.5", "ENSEMBL:ENSP00000372056", "ENSEMBL:ENSP00000372056.6", "UMLS:C1570421", "MESH:C501595"], "information_content": 100.0}
{"id": "UniProtKB:Q86Y46-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin, type II cytoskeletal 73 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86Y46-1", "PR:Q86Y46-1", "ENSEMBL:ENSP00000307014", "ENSEMBL:ENSP00000307014.3"], "information_content": 100.0}
{"id": "UniProtKB:O14901-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "krueppel-like factor 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14901-1", "PR:O14901-1", "ENSEMBL:ENSP00000307023", "ENSEMBL:ENSP00000307023.1"], "information_content": 100.0}
{"id": "NCBIGene:646", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BNC1", "equivalent_identifiers": ["NCBIGene:646", "ENSEMBL:ENSG00000169594", "HGNC:1081", "OMIM:601930", "UMLS:C1538957", "UniProtKB:B7Z885", "UMLS:C1571618", "MESH:C077914", "UniProtKB:F5GY04", "ENSEMBL:ENSP00000456727", "ENSEMBL:ENSP00000456727.1", "UniProtKB:Q01954", "PR:Q01954", "ENSEMBL:ENSP00000307041", "ENSEMBL:ENSP00000307041.2"], "information_content": 100.0}
{"id": "NCBIGene:6383", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDC2", "equivalent_identifiers": ["NCBIGene:6383", "ENSEMBL:ENSG00000169439", "HGNC:10659", "OMIM:142460", "UMLS:C1419892", "UniProtKB:E9PBI9", "ENSEMBL:ENSP00000427784", "ENSEMBL:ENSP00000427784.1", "ENSEMBL:ENSP00000428256", "ENSEMBL:ENSP00000428256.1", "UniProtKB:P34741", "PR:P34741", "ENSEMBL:ENSP00000307046", "ENSEMBL:ENSP00000307046.4", "UMLS:C1610496", "MESH:C508245"], "information_content": 84.8}
{"id": "NCBIGene:3799", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIF5B", "equivalent_identifiers": ["NCBIGene:3799", "ENSEMBL:ENSG00000170759", "HGNC:6324", "OMIM:602809", "UMLS:C1416639", "UniProtKB:P33176", "PR:P33176", "ENSEMBL:ENSP00000307078", "ENSEMBL:ENSP00000307078.4", "UMLS:C3541330", "MESH:C488101", "UniProtKB:Q6P164", "UniProtKB:V9HW29"], "information_content": 89.4}
{"id": "MONDO:0015798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory myofibroblastic tumor", "equivalent_identifiers": ["MONDO:0015798", "DOID:0050905", "orphanet:178342", "UMLS:C0018199", "UMLS:C0334121", "MESH:D006104", "MEDDRA:10067917", "MEDDRA:10067918", "MEDDRA:10068331", "MEDDRA:10068332", "NCIT:C3069", "NCIT:C6481", "SNOMEDCT:1290860006", "SNOMEDCT:21971004", "SNOMEDCT:35073002", "SNOMEDCT:771233008", "medgen:137723"], "information_content": 79.0}
{"id": "MONDO:0020325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anaplastic large cell lymphoma", "equivalent_identifiers": ["MONDO:0020325", "DOID:0050744", "orphanet:98841", "EFO:0003032", "UMLS:C0206180", "MESH:D017728", "MEDDRA:10073478", "NCIT:C3720", "SNOMEDCT:277637000", "SNOMEDCT:53237008", "SNOMEDCT:702785000", "medgen:61533", "HP:0012193"], "information_content": 71.9}
{"id": "MONDO:0006279", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung sarcomatoid carcinoma", "equivalent_identifiers": ["MONDO:0006279", "DOID:0080777", "EFO:1000336", "UMLS:C1708781", "UMLS:C3873337", "MEDDRA:10081400", "NCIT:C45540", "SNOMEDCT:1260072008", "SNOMEDCT:707460002", "medgen:353871"], "information_content": 84.2}
{"id": "MONDO:0006406", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sarcomatoid carcinoma", "equivalent_identifiers": ["MONDO:0006406", "DOID:4015", "EFO:1000520", "UMLS:C0205697", "MEDDRA:10080324", "NCIT:C27004", "SNOMEDCT:23109009", "SNOMEDCT:65692009", "medgen:60009"], "information_content": 76.2}
{"id": "UniProtKB:Q96JE9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-associated protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JE9-1", "PR:Q96JE9-1", "ENSEMBL:ENSP00000307093", "ENSEMBL:ENSP00000307093.3"], "information_content": 100.0}
{"id": "MONDO:0013459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 10", "equivalent_identifiers": ["MONDO:0013459", "DOID:0110346", "OMIM:613848", "UMLS:C3151211", "medgen:462561"], "information_content": 100.0}
{"id": "NCBIGene:123099", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEGS2", "equivalent_identifiers": ["NCBIGene:123099", "ENSEMBL:ENSG00000168350", "HGNC:20113", "OMIM:610862", "UMLS:C1539266", "UniProtKB:Q6QHC5", "PR:Q6QHC5", "ENSEMBL:ENSP00000307126", "ENSEMBL:ENSP00000307126.5", "UMLS:C4077186", "MESH:C000604035"], "information_content": 92.8}
{"id": "NCBIGene:203076", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C8orf74", "equivalent_identifiers": ["NCBIGene:203076", "ENSEMBL:ENSG00000171060", "HGNC:32296", "UMLS:C1824282", "UniProtKB:A0AAG2TK55", "ENSEMBL:ENSP00000495308", "ENSEMBL:ENSP00000495308.1", "UniProtKB:Q6P047", "PR:Q6P047", "ENSEMBL:ENSP00000307129", "ENSEMBL:ENSP00000307129.5"], "information_content": 95.4}
{"id": "NCBIGene:1473", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CST5", "equivalent_identifiers": ["NCBIGene:1473", "ENSEMBL:ENSG00000170367", "HGNC:2477", "OMIM:123858", "UMLS:C1413774", "UniProtKB:P28325", "PR:P28325", "ENSEMBL:ENSP00000307132", "ENSEMBL:ENSP00000307132.4", "UMLS:C1609352", "UMLS:C5203066", "MESH:C071378"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQB3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "catenin delta-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQB3-1", "PR:Q9UQB3-1", "ENSEMBL:ENSP00000307134", "ENSEMBL:ENSP00000307134.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYP3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein downstream neighbor of Son isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYP3-1", "PR:Q9NYP3-1", "ENSEMBL:ENSP00000307143", "ENSEMBL:ENSP00000307143.4"], "information_content": 100.0}
{"id": "NCBIGene:3913", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LAMB2", "equivalent_identifiers": ["NCBIGene:3913", "ENSEMBL:ENSG00000172037", "HGNC:6487", "OMIM:150325", "UMLS:C1416781", "UniProtKB:P55268", "PR:P55268", "ENSEMBL:ENSP00000307156", "ENSEMBL:ENSP00000307156.4", "ENSEMBL:ENSP00000388325", "ENSEMBL:ENSP00000388325.1", "UMLS:C1608823"], "information_content": 85.5}
{"id": "UniProtKB:Q8WXA2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostate and testis expressed protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXA2-1", "PR:Q8WXA2-1", "ENSEMBL:ENSP00000307164", "ENSEMBL:ENSP00000307164.4"], "information_content": 100.0}
{"id": "NCBIGene:83640", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAMAC", "equivalent_identifiers": ["NCBIGene:83640", "ENSEMBL:ENSG00000169612", "HGNC:31022", "OMIM:614547", "UMLS:C1825228", "UniProtKB:Q9BTL3", "PR:Q9BTL3", "ENSEMBL:ENSP00000307181", "ENSEMBL:ENSP00000307181.3", "UMLS:C3252302", "MESH:C569288"], "information_content": 92.8}
{"id": "UniProtKB:Q9H160-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inhibitor of growth protein 2 isoform hING2a (human)", "equivalent_identifiers": ["UniProtKB:Q9H160-1", "PR:Q9H160-1", "ENSEMBL:ENSP00000307183", "ENSEMBL:ENSP00000307183.3"], "information_content": 100.0}
{"id": "UniProtKB:P04424-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "argininosuccinate lyase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P04424-1", "PR:P04424-1", "ENSEMBL:ENSP00000307188", "ENSEMBL:ENSP00000307188.9", "ENSEMBL:ENSP00000378741", "ENSEMBL:ENSP00000378741.3"], "information_content": 100.0}
{"id": "NCBIGene:150353", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJB7", "equivalent_identifiers": ["NCBIGene:150353", "ENSEMBL:ENSG00000172404", "HGNC:24986", "OMIM:611336", "UMLS:C1428435", "UniProtKB:Q7Z6W7", "PR:Q7Z6W7", "ENSEMBL:ENSP00000307197", "ENSEMBL:ENSP00000307197.4"], "information_content": 100.0}
{"id": "NCBIGene:51327", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AHSP", "equivalent_identifiers": ["NCBIGene:51327", "ENSEMBL:ENSG00000169877", "HGNC:18075", "OMIM:605821", "UMLS:C1425284", "UniProtKB:Q549J4", "UMLS:C1172445", "MESH:C468768", "UniProtKB:Q9NZD4", "PR:Q9NZD4", "ENSEMBL:ENSP00000307199", "ENSEMBL:ENSP00000307199.4"], "information_content": 87.2}
{"id": "UniProtKB:Q12830-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleosome-remodeling factor subunit BPTF isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q12830-2", "PR:Q12830-2", "ENSEMBL:ENSP00000307208", "ENSEMBL:ENSP00000307208.6"], "information_content": 100.0}
{"id": "NCBIGene:9836", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCMT2", "equivalent_identifiers": ["NCBIGene:9836", "ENSEMBL:ENSG00000168806", "HGNC:17558", "OMIM:611246", "UMLS:C1424997", "UniProtKB:O60294", "PR:O60294", "ENSEMBL:ENSP00000307214", "ENSEMBL:ENSP00000307214.5"], "information_content": 95.4}
{"id": "NCBIGene:29930", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCDHB1", "equivalent_identifiers": ["NCBIGene:29930", "ENSEMBL:ENSG00000171815", "HGNC:8680", "OMIM:606327", "UMLS:C1418329", "UniProtKB:Q9Y5F3", "PR:Q9Y5F3", "ENSEMBL:ENSP00000307234", "ENSEMBL:ENSP00000307234.4", "ENSEMBL:ENSP00000517176", "ENSEMBL:ENSP00000517176.1"], "information_content": 100.0}
{"id": "NCBIGene:9451", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF2AK3", "equivalent_identifiers": ["NCBIGene:9451", "ENSEMBL:ENSG00000172071", "HGNC:3255", "OMIM:604032", "UMLS:C1414326", "UniProtKB:A0A804HIT4", "ENSEMBL:ENSP00000507214", "ENSEMBL:ENSP00000507214.1", "UniProtKB:B3KY45", "UniProtKB:Q9NZJ5", "PR:Q9NZJ5", "ENSEMBL:ENSP00000307235", "ENSEMBL:ENSP00000307235.3", "UMLS:C1137836", "MESH:C460640"], "information_content": 95.4}
{"id": "NCBIGene:121391", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT74", "equivalent_identifiers": ["NCBIGene:121391", "ENSEMBL:ENSG00000170484", "HGNC:28929", "OMIM:608248", "UMLS:C1825762", "UniProtKB:Q7RTS7", "PR:Q7RTS7", "ENSEMBL:ENSP00000307240", "ENSEMBL:ENSP00000307240.2", "UMLS:C1175951", "MESH:C473406"], "information_content": 100.0}
{"id": "UniProtKB:P11177-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P11177-1", "PR:P11177-1", "ENSEMBL:ENSP00000307241", "ENSEMBL:ENSP00000307241.6"], "information_content": 100.0}
{"id": "NCBIGene:64805", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "P2RY12", "equivalent_identifiers": ["NCBIGene:64805", "ENSEMBL:ENSG00000169313", "HGNC:18124", "OMIM:600515", "UMLS:C1425330", "UniProtKB:A8K7T1", "UMLS:C1434027", "MESH:C548576", "UniProtKB:Q9H244", "PR:Q9H244", "ENSEMBL:ENSP00000307259", "ENSEMBL:ENSP00000307259.4"], "information_content": 100.0}
{"id": "NCBIGene:26608", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBL2", "equivalent_identifiers": ["NCBIGene:26608", "ENSEMBL:ENSG00000106638", "HGNC:11586", "OMIM:605842", "UMLS:C1420600", "UniProtKB:E9PF19", "ENSEMBL:ENSP00000413979", "ENSEMBL:ENSP00000413979.1", "UniProtKB:Q9Y4P3", "PR:Q9Y4P3", "ENSEMBL:ENSP00000307260", "ENSEMBL:ENSP00000307260.4", "UMLS:C3539820"], "information_content": 95.4}
{"id": "NCBIGene:53838", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C11orf24", "equivalent_identifiers": ["NCBIGene:53838", "ENSEMBL:ENSG00000171067", "HGNC:1174", "OMIM:610880", "UMLS:C1412873", "UniProtKB:E9PRU5", "ENSEMBL:ENSP00000434144", "ENSEMBL:ENSP00000434144.1", "UMLS:C1310112", "MESH:C433887", "UniProtKB:Q96F05", "PR:Q96F05", "ENSEMBL:ENSP00000307264", "ENSEMBL:ENSP00000307264.6"], "information_content": 92.8}
{"id": "MONDO:0010862", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type 1 diabetes mellitus 4", "equivalent_identifiers": ["MONDO:0010862", "DOID:0110743", "OMIM:600319", "UMLS:C1838261", "MESH:C563959", "medgen:373925"], "information_content": 100.0}
{"id": "NCBIGene:26145", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IRF2BP1", "equivalent_identifiers": ["NCBIGene:26145", "ENSEMBL:ENSG00000170604", "HGNC:21728", "OMIM:615331", "UMLS:C1427725", "UniProtKB:Q8IU81", "PR:Q8IU81", "ENSEMBL:ENSP00000307265", "ENSEMBL:ENSP00000307265.3", "UMLS:C1259222", "MESH:C475081"], "information_content": 92.8}
{"id": "UniProtKB:Q8N122-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulatory-associated protein of mTOR isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N122-1", "PR:Q8N122-1", "ENSEMBL:ENSP00000307272", "ENSEMBL:ENSP00000307272.3"], "information_content": 100.0}
{"id": "UniProtKB:O14828-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "secretory carrier-associated membrane protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14828-1", "PR:O14828-1", "ENSEMBL:ENSP00000307275", "ENSEMBL:ENSP00000307275.3", "ENSEMBL:ENSP00000461521", "ENSEMBL:ENSP00000461521.1"], "information_content": 100.0}
{"id": "UniProtKB:P05976-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin light chain 1/3, skeletal muscle isoform isoform hMLC1 (human)", "equivalent_identifiers": ["UniProtKB:P05976-1", "PR:P05976-1", "ENSEMBL:ENSP00000307280", "ENSEMBL:ENSP00000307280.4"], "information_content": 100.0}
{"id": "DOID:0060495", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "shellfish allergy", "equivalent_identifiers": ["DOID:0060495"]}
{"id": "UniProtKB:P33993-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA replication licensing factor MCM7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P33993-1", "PR:P33993-1", "ENSEMBL:ENSP00000307288", "ENSEMBL:ENSP00000307288.5"], "information_content": 100.0}
{"id": "NCBIGene:112464", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAVIN3", "equivalent_identifiers": ["NCBIGene:112464", "ENSEMBL:ENSG00000170955", "HGNC:9400", "OMIM:618303", "UMLS:C1418917", "UniProtKB:Q969G5", "PR:Q969G5", "ENSEMBL:ENSP00000307292", "ENSEMBL:ENSP00000307292.3", "UMLS:C1622797", "MESH:C505360"], "information_content": 95.4}
{"id": "NCBIGene:113189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHST14", "equivalent_identifiers": ["NCBIGene:113189", "ENSEMBL:ENSG00000169105", "HGNC:24464", "OMIM:608429", "UMLS:C1428376", "UniProtKB:Q8NCH0", "PR:Q8NCH0", "ENSEMBL:ENSP00000307297", "ENSEMBL:ENSP00000307297.6", "UMLS:C1098362", "MESH:C438013"], "information_content": 90.9}
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{"id": "UniProtKB:P55197-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein AF-10 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P55197-4", "PR:P55197-4", "ENSEMBL:ENSP00000307411", "ENSEMBL:ENSP00000307411.7", "ENSEMBL:ENSP00000366258", "ENSEMBL:ENSP00000366258.4", "ENSEMBL:ENSP00000488569", "ENSEMBL:ENSP00000488569.1"], "information_content": 100.0}
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{"id": "NCBIGene:387601", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC22A25", "equivalent_identifiers": ["NCBIGene:387601", "ENSEMBL:ENSG00000196600", "HGNC:32935", "OMIM:610792", "UMLS:C1835834", "UniProtKB:Q6T423", "PR:Q6T423", "ENSEMBL:ENSP00000307443", "ENSEMBL:ENSP00000307443.6", "UMLS:C1505555", "MESH:C488773"], "information_content": 100.0}
{"id": "UniProtKB:Q9HBZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aryl hydrocarbon receptor nuclear translocator 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBZ2-1", "PR:Q9HBZ2-1", "ENSEMBL:ENSP00000307479", "ENSEMBL:ENSP00000307479.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAF3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 48 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAF3-1", "PR:Q8TAF3-1", "ENSEMBL:ENSP00000307491", "ENSEMBL:ENSP00000307491.5"], "information_content": 100.0}
{"id": "NCBIGene:794", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CALB2", "equivalent_identifiers": ["NCBIGene:794", "ENSEMBL:ENSG00000172137", "HGNC:1435", "OMIM:114051", "UMLS:C1413081", "UniProtKB:A0A140VK08", "UniProtKB:A6NER6", "ENSEMBL:ENSP00000340294", "ENSEMBL:ENSP00000340294.5", "ENSEMBL:ENSP00000489007", "ENSEMBL:ENSP00000489007.1", "UniProtKB:P22676", "PR:P22676", "ENSEMBL:ENSP00000307508", "ENSEMBL:ENSP00000307508.4", "ENSEMBL:ENSP00000488916", "ENSEMBL:ENSP00000488916.1", "UMLS:C3711669", "MESH:C576764"], "information_content": 95.4}
{"id": "MONDO:0004324", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular fibroma", "equivalent_identifiers": ["MONDO:0004324", "DOID:7675", "UMLS:C1515282", "NCIT:C39951", "medgen:308256"], "information_content": 100.0}
{"id": "MONDO:0002112", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign peritoneal mesothelioma", "equivalent_identifiers": ["MONDO:0002112", "DOID:1789", "UMLS:C0346113", "NCIT:C7354", "SNOMEDCT:109852009", "medgen:87540"], "information_content": 100.0}
{"id": "NCBIGene:9902", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRC2", "equivalent_identifiers": ["NCBIGene:9902", "ENSEMBL:ENSG00000011028", "HGNC:16875", "OMIM:612264", "UMLS:C1424610", "UniProtKB:Q9UBG0", "PR:Q9UBG0", "ENSEMBL:ENSP00000307513", "ENSEMBL:ENSP00000307513.5", "UMLS:C0912068", "UMLS:C3537377", "MESH:C404106"], "information_content": 87.2}
{"id": "NCBIGene:28983", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMPRSS11E", "equivalent_identifiers": ["NCBIGene:28983", "ENSEMBL:ENSG00000087128", "HGNC:24465", "OMIM:610399", "UMLS:C1540027", "UniProtKB:Q9UL52", "PR:Q9UL52", "ENSEMBL:ENSP00000307519", "ENSEMBL:ENSP00000307519.4", "UMLS:C2001101", "MESH:C524420"], "information_content": 95.4}
{"id": "NCBIGene:1470", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CST2", "equivalent_identifiers": ["NCBIGene:1470", "ENSEMBL:ENSG00000170369", "HGNC:2474", "OMIM:123856", "UMLS:C1413771", "UniProtKB:P09228", "PR:P09228", "ENSEMBL:ENSP00000307540", "ENSEMBL:ENSP00000307540.2", "UMLS:C2000969", "MESH:C525172"], "information_content": 100.0}
{"id": "NCBIGene:4884", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPTX1", "equivalent_identifiers": ["NCBIGene:4884", "ENSEMBL:ENSG00000171246", "HGNC:7952", "OMIM:602367", "UMLS:C1417812", "UniProtKB:Q15818", "PR:Q15818", "ENSEMBL:ENSP00000307549", "ENSEMBL:ENSP00000307549.4", "UMLS:C1455024"], "information_content": 95.4}
{"id": "UniProtKB:P47897-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamine--tRNA ligase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P47897-1", "PR:P47897-1", "ENSEMBL:ENSP00000307567", "ENSEMBL:ENSP00000307567.6"], "information_content": 100.0}
{"id": "MONDO:0012588", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 7", "equivalent_identifiers": ["MONDO:0012588", "DOID:0110722", "OMIM:610951", "orphanet:228366", "UMLS:C1838571", "MESH:C563989", "medgen:325457"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPQ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPQ3-1", "PR:Q9UPQ3-1", "ENSEMBL:ENSP00000307634", "ENSEMBL:ENSP00000307634.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDC4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MORN repeat-containing protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDC4-1", "PR:Q8NDC4-1", "ENSEMBL:ENSP00000307636", "ENSEMBL:ENSP00000307636.6"], "information_content": 100.0}
{"id": "UniProtKB:A6NLP5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetratricopeptide repeat protein 36 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NLP5-1", "PR:A6NLP5-1", "ENSEMBL:ENSP00000307640", "ENSEMBL:ENSP00000307640.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96JG6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syndetin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JG6-1", "PR:Q96JG6-1", "ENSEMBL:ENSP00000307666", "ENSEMBL:ENSP00000307666.5"], "information_content": 100.0}
{"id": "MONDO:0060533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, short stature, and limb abnormalities", "equivalent_identifiers": ["MONDO:0060533", "DOID:0081431", "OMIM:617604", "orphanet:572773", "UMLS:C4539873", "medgen:1613834"], "information_content": 100.0}
{"id": "UniProtKB:Q8WVQ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "soluble calcium-activated nucleotidase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVQ1-1", "PR:Q8WVQ1-1", "ENSEMBL:ENSP00000307674", "ENSEMBL:ENSP00000307674.2", "ENSEMBL:ENSP00000376241", "ENSEMBL:ENSP00000376241.4", "ENSEMBL:ENSP00000467437", "ENSEMBL:ENSP00000467437.1", "ENSEMBL:ENSP00000477798", "ENSEMBL:ENSP00000477798.1"], "information_content": 100.0}
{"id": "UniProtKB:O75528-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcriptional adapter 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75528-1", "PR:O75528-1", "ENSEMBL:ENSP00000307684", "ENSEMBL:ENSP00000307684.2", "ENSEMBL:ENSP00000393471", "ENSEMBL:ENSP00000393471.1"], "information_content": 100.0}
{"id": "NCBIGene:8309", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACOX2", "equivalent_identifiers": ["NCBIGene:8309", "ENSEMBL:ENSG00000168306", "HGNC:120", "OMIM:601641", "UMLS:C1412129", "UniProtKB:B4DPM1", "UniProtKB:Q99424", "PR:Q99424", "ENSEMBL:ENSP00000307697", "ENSEMBL:ENSP00000307697.5", "UMLS:C3529384", "MESH:C576470"], "information_content": 95.4}
{"id": "NCBIGene:10098", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPAN5", "equivalent_identifiers": ["NCBIGene:10098", "ENSEMBL:ENSG00000168785", "HGNC:17753", "OMIM:613136", "UMLS:C1540085", "UniProtKB:B7Z317", "ENSEMBL:ENSP00000423916", "ENSEMBL:ENSP00000423916.1", "UniProtKB:D6RAR1", "ENSEMBL:ENSP00000421808", "ENSEMBL:ENSP00000421808.1", "UniProtKB:P62079", "PR:P62079", "ENSEMBL:ENSP00000307701", "ENSEMBL:ENSP00000307701.3", "UMLS:C3180304", "MESH:C556853"], "information_content": 95.4}
{"id": "NCBIGene:3008", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H1-4", "equivalent_identifiers": ["NCBIGene:3008", "ENSEMBL:ENSG00000168298", "HGNC:4718", "OMIM:142220", "UMLS:C1415388", "UniProtKB:A3R0T8", "UMLS:C5433581", "MESH:C000709410", "UniProtKB:P10412", "PR:P10412", "ENSEMBL:ENSP00000307705", "ENSEMBL:ENSP00000307705.4", "UMLS:C3890927"], "information_content": 83.6}
{"id": "NCBIGene:51617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NSG2", "equivalent_identifiers": ["NCBIGene:51617", "ENSEMBL:ENSG00000170091", "HGNC:24955", "OMIM:616752", "UMLS:C4225216", "UniProtKB:Q9Y328", "PR:Q9Y328", "ENSEMBL:ENSP00000307722", "ENSEMBL:ENSP00000307722.3", "ENSEMBL:ENSP00000431119", "ENSEMBL:ENSP00000431119.1", "UMLS:C5197144", "MESH:C000631229"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZV2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CKLF-like MARVEL transmembrane domain-containing protein 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZV2-1", "PR:Q8IZV2-1", "ENSEMBL:ENSP00000307741", "ENSEMBL:ENSP00000307741.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULD9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 608 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULD9-1", "PR:Q9ULD9-1", "ENSEMBL:ENSP00000307746", "ENSEMBL:ENSP00000307746.5", "ENSEMBL:ENSP00000421899", "ENSEMBL:ENSP00000421899.2"], "information_content": 100.0}
{"id": "NCBIGene:3354", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTR1E", "equivalent_identifiers": ["NCBIGene:3354", "ENSEMBL:ENSG00000168830", "HGNC:5291", "OMIM:182132", "UMLS:C1415807", "UniProtKB:P28566", "PR:P28566", "ENSEMBL:ENSP00000307766", "ENSEMBL:ENSP00000307766.4"], "information_content": 95.4}
{"id": "NCBIGene:8187", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF239", "equivalent_identifiers": ["NCBIGene:8187", "ENSEMBL:ENSG00000196793", "HGNC:13031", "OMIM:601069", "UMLS:C1421726", "UniProtKB:Q16600", "PR:Q16600", "ENSEMBL:ENSP00000307774", "ENSEMBL:ENSP00000307774.6", "ENSEMBL:ENSP00000363569", "ENSEMBL:ENSP00000363569.1", "ENSEMBL:ENSP00000398202", "ENSEMBL:ENSP00000398202.1", "ENSEMBL:ENSP00000443907", "ENSEMBL:ENSP00000443907.1", "UMLS:C1435884", "MESH:C484253"], "information_content": 100.0}
{"id": "NCBIGene:54205", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYCS", "equivalent_identifiers": ["NCBIGene:54205", "ENSEMBL:ENSG00000172115", "HGNC:19986", "OMIM:123970", "UMLS:C1426584", "UniProtKB:G4XXL9", "UniProtKB:P99999", "PR:P99999", "ENSEMBL:ENSP00000307786", "ENSEMBL:ENSP00000307786.2", "ENSEMBL:ENSP00000386270", "ENSEMBL:ENSP00000386270.1", "ENSEMBL:ENSP00000387279", "ENSEMBL:ENSP00000387279.1", "UMLS:C4318401"], "information_content": 88.2}
{"id": "UniProtKB:Q8TCW7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zona pellucida-like domain-containing protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCW7-2", "PR:Q8TCW7-2", "ENSEMBL:ENSP00000307801", "ENSEMBL:ENSP00000307801.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5X5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuropeptide FF receptor 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5X5-2", "PR:Q9Y5X5-2", "ENSEMBL:ENSP00000307822", "ENSEMBL:ENSP00000307822.7", "ENSEMBL:ENSP00000351599", "ENSEMBL:ENSP00000351599.3"], "information_content": 100.0}
{"id": "MONDO:0002002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postsurgical hypothyroidism", "equivalent_identifiers": ["MONDO:0002002", "DOID:1458", "UMLS:C0154157", "MEDDRA:10021117", "MEDDRA:10057242", "SNOMEDCT:27059002", "medgen:509534", "ICD10:E89.0", "ICD9:244.0"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZF5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G-protein coupled receptor F3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZF5-1", "PR:Q8IZF5-1", "ENSEMBL:ENSP00000307831", "ENSEMBL:ENSP00000307831.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEZ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEZ5-1", "PR:Q8NEZ5-1", "ENSEMBL:ENSP00000307833", "ENSEMBL:ENSP00000307833.3"], "information_content": 100.0}
{"id": "UniProtKB:Q14919-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Dr1-associated corepressor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14919-1", "PR:Q14919-1", "ENSEMBL:ENSP00000307850", "ENSEMBL:ENSP00000307850.2"], "information_content": 100.0}
{"id": "MONDO:0010653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Renpenning syndrome", "equivalent_identifiers": ["MONDO:0010653", "DOID:0060179", "OMIM:309500", "orphanet:3242", "UMLS:C0796135", "MESH:C537761", "NCIT:C165533", "SNOMEDCT:699669001", "medgen:208670", "icd11.foundation:1415315699", "ICD10:Q87.5"], "information_content": 89.4}
{"id": "NCBIGene:80198", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUS81", "equivalent_identifiers": ["NCBIGene:80198", "ENSEMBL:ENSG00000172732", "HGNC:29814", "OMIM:606591", "UMLS:C1428895", "UniProtKB:Q53ES5", "UniProtKB:Q96NY9", "PR:Q96NY9", "ENSEMBL:ENSP00000307853", "ENSEMBL:ENSP00000307853.4", "UMLS:C1505591", "MESH:C498772"], "information_content": 100.0}
{"id": "MONDO:0008438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 4", "equivalent_identifiers": ["MONDO:0008438", "DOID:0110792", "OMIM:182601", "orphanet:100985", "UMLS:C1866855", "UMLS:C3711371", "MESH:C536865", "MESH:C580456", "NCIT:C129981", "SNOMEDCT:723820001", "medgen:401097"], "information_content": 100.0}
{"id": "NCBIGene:57659", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB4", "equivalent_identifiers": ["NCBIGene:57659", "ENSEMBL:ENSG00000174282", "HGNC:23847", "OMIM:612308", "UMLS:C1428295", "UniProtKB:B3KVD4", "UMLS:C1699345", "MESH:C508974", "UniProtKB:Q9P1Z0", "PR:Q9P1Z0", "ENSEMBL:ENSP00000307858", "ENSEMBL:ENSP00000307858.4", "ENSEMBL:ENSP00000369973", "ENSEMBL:ENSP00000369973.4", "ENSEMBL:ENSP00000492232", "ENSEMBL:ENSP00000492232.1", "ENSEMBL:ENSP00000492616", "ENSEMBL:ENSP00000492616.1"], "information_content": 100.0}
{"id": "MONDO:0014399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia-telangiectasia-like disorder 2", "equivalent_identifiers": ["MONDO:0014399", "DOID:0081385", "OMIM:615919", "orphanet:438134", "UMLS:C4014676", "SNOMEDCT:1228871002", "medgen:863113"], "information_content": 100.0}
{"id": "UniProtKB:P26368-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "splicing factor U2AF 65 kDa subunit isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P26368-1", "PR:P26368-1", "ENSEMBL:ENSP00000307863", "ENSEMBL:ENSP00000307863.3"], "information_content": 100.0}
{"id": "UniProtKB:P26373-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein eL13 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P26373-1", "PR:P26373-1", "ENSEMBL:ENSP00000307889", "ENSEMBL:ENSP00000307889.5", "ENSEMBL:ENSP00000376811", "ENSEMBL:ENSP00000376811.3", "ENSEMBL:ENSP00000455009", "ENSEMBL:ENSP00000455009.1"], "information_content": 100.0}
{"id": "NCBIGene:2752", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLUL", "equivalent_identifiers": ["NCBIGene:2752", "ENSEMBL:ENSG00000135821", "HGNC:4341", "OMIM:138290", "UMLS:C1415119", "UniProtKB:A8YXX4", "UMLS:C4743434", "MESH:C000629282", "UniProtKB:P15104", "PR:P15104", "ENSEMBL:ENSP00000307900", "ENSEMBL:ENSP00000307900.5", "ENSEMBL:ENSP00000356537", "ENSEMBL:ENSP00000356537.6", "ENSEMBL:ENSP00000398320", "ENSEMBL:ENSP00000398320.2"], "information_content": 85.5}
{"id": "UniProtKB:Q9Y4C5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carbohydrate sulfotransferase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4C5-1", "PR:Q9Y4C5-1", "ENSEMBL:ENSP00000307911", "ENSEMBL:ENSP00000307911.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWJ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GRIP and coiled-coil domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWJ2-1", "PR:Q8IWJ2-1", "ENSEMBL:ENSP00000307939", "ENSEMBL:ENSP00000307939.5"], "information_content": 100.0}
{"id": "NCBIGene:1938", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EEF2", "equivalent_identifiers": ["NCBIGene:1938", "ENSEMBL:ENSG00000167658", "HGNC:3214", "OMIM:130610", "UMLS:C1414295", "UniProtKB:P13639", "PR:P13639", "ENSEMBL:ENSP00000307940", "ENSEMBL:ENSP00000307940.5", "UMLS:C4721670"], "information_content": 77.3}
{"id": "UniProtKB:Q8N6M8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IQ domain-containing protein F1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6M8-1", "PR:Q8N6M8-1", "ENSEMBL:ENSP00000307958", "ENSEMBL:ENSP00000307958.5"], "information_content": 100.0}
{"id": "NCBIGene:667", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DST", "equivalent_identifiers": ["NCBIGene:667", "ENSEMBL:ENSG00000151914", "HGNC:1090", "OMIM:113810", "UMLS:C1539312", "UniProtKB:A0A7P0T890", "ENSEMBL:ENSP00000505098", "ENSEMBL:ENSP00000505098.1", "UniProtKB:B4DGY0", "UniProtKB:B4DSS9", "UniProtKB:E9PHM6", "ENSEMBL:ENSP00000400883", "ENSEMBL:ENSP00000400883.3", "UniProtKB:F6QMI7", "ENSEMBL:ENSP00000307959", "ENSEMBL:ENSP00000307959.7", "UniProtKB:F8W9J4", "ENSEMBL:ENSP00000354508", "ENSEMBL:ENSP00000354508.3", "UniProtKB:Q03001", "PR:Q03001", "UMLS:C1437025", "MESH:C486268", "UniProtKB:Q6P0N6", "ENSEMBL:ENSP00000431003", "ENSEMBL:ENSP00000431003.1"]}
{"id": "MONDO:0006540", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dyshidrosis", "equivalent_identifiers": ["MONDO:0006540", "DOID:9230", "EFO:1000688", "UMLS:C0032633", "MESH:D011146", "MEDDRA:10013912", "MEDDRA:10013913", "MEDDRA:10036144", "MEDDRA:10036145", "MEDDRA:10080165", "SNOMEDCT:402567004", "medgen:10851", "ICD9:705.81"], "information_content": 100.0}
{"id": "NCBIGene:5986", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RFNG", "equivalent_identifiers": ["NCBIGene:5986", "ENSEMBL:ENSG00000169733", "HGNC:9974", "OMIM:602578", "UMLS:C1419353", "UniProtKB:F5H3H7", "ENSEMBL:ENSP00000402931", "ENSEMBL:ENSP00000402931.3", "UMLS:C1453490", "MESH:C491318", "UniProtKB:Q8N9R1", "UniProtKB:Q9Y644", "PR:Q9Y644", "ENSEMBL:ENSP00000307971", "ENSEMBL:ENSP00000307971.4"], "information_content": 95.4}
{"id": "MONDO:0006907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pilar sheath acanthoma", "equivalent_identifiers": ["MONDO:0006907", "DOID:4322", "EFO:1001107", "UMLS:C0346005", "NCIT:C4468", "SNOMEDCT:1295378006", "SNOMEDCT:254693008", "medgen:83398", "icd11.foundation:281473034"], "information_content": 100.0}
{"id": "MONDO:0002961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "large cell acanthoma", "equivalent_identifiers": ["MONDO:0002961", "DOID:4321", "UMLS:C1334362", "NCIT:C27518", "SNOMEDCT:1295377001", "SNOMEDCT:733894009", "medgen:235249"], "information_content": 100.0}
{"id": "MONDO:0019803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angioma serpiginosum", "equivalent_identifiers": ["MONDO:0019803", "DOID:4028", "orphanet:95429", "UMLS:C0263637", "MEDDRA:10086217", "NCIT:C3926", "SNOMEDCT:49465005", "medgen:75528", "icd11.foundation:1724787481", "ICD10:L81.7"], "information_content": 92.8}
{"id": "MONDO:0006592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parapsoriasis", "equivalent_identifiers": ["MONDO:0006592", "DOID:9088", "EFO:1000747", "UMLS:C0030491", "MESH:D010267", "MEDDRA:10033898", "NCIT:C3312", "SNOMEDCT:88233000", "medgen:10579", "ICD10:L41", "ICD9:696.2"], "information_content": 90.9}
{"id": "NCBIGene:64852", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUT1", "equivalent_identifiers": ["NCBIGene:64852", "ENSEMBL:ENSG00000149016", "HGNC:26184", "OMIM:610641", "UMLS:C1823555", "UniProtKB:A0A0A8K9B1", "UMLS:C3851475", "MESH:C586325", "UniProtKB:F5H0R1", "ENSEMBL:ENSP00000308000", "ENSEMBL:ENSP00000308000.7", "UniProtKB:Q9H6E5", "PR:Q9H6E5", "ENSEMBL:ENSP00000419607", "ENSEMBL:ENSP00000419607.1"]}
{"id": "UniProtKB:Q96DU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyadenylate-binding protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DU9-1", "PR:Q96DU9-1", "ENSEMBL:ENSP00000308012", "ENSEMBL:ENSP00000308012.3"], "information_content": 100.0}
{"id": "MONDO:0013611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 62", "equivalent_identifiers": ["MONDO:0013611", "DOID:0110380", "OMIM:614181", "UMLS:C3280042", "medgen:481672"], "information_content": 100.0}
{"id": "UniProtKB:P29120-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuroendocrine convertase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P29120-1", "PR:P29120-1", "ENSEMBL:ENSP00000308024", "ENSEMBL:ENSP00000308024.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96SQ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 2S1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96SQ9-1", "PR:Q96SQ9-1", "ENSEMBL:ENSP00000308032", "ENSEMBL:ENSP00000308032.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCU0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endosialin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCU0-1", "PR:Q9HCU0-1", "ENSEMBL:ENSP00000308117", "ENSEMBL:ENSP00000308117.3"], "information_content": 100.0}
{"id": "NCBIGene:50617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP6V0A4", "equivalent_identifiers": ["NCBIGene:50617", "ENSEMBL:ENSG00000105929", "HGNC:866", "OMIM:605239", "UMLS:C1412686", "UniProtKB:Q9HBG4", "PR:Q9HBG4", "ENSEMBL:ENSP00000253856", "ENSEMBL:ENSP00000253856.6", "ENSEMBL:ENSP00000308122", "ENSEMBL:ENSP00000308122.2", "ENSEMBL:ENSP00000376774", "ENSEMBL:ENSP00000376774.1", "ENSEMBL:ENSP00000496421", "ENSEMBL:ENSP00000496421.1", "UMLS:C1453875", "MESH:C490181"], "information_content": 100.0}
{"id": "UniProtKB:Q400G9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "archaemetzincin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q400G9-1", "PR:Q400G9-1", "ENSEMBL:ENSP00000308149", "ENSEMBL:ENSP00000308149.4", "ENSEMBL:ENSP00000506962", "ENSEMBL:ENSP00000506962.1"], "information_content": 100.0}
{"id": "NCBIGene:84153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNASEH2C", "equivalent_identifiers": ["NCBIGene:84153", "ENSEMBL:ENSG00000172922", "HGNC:24116", "OMIM:610330", "UMLS:C1826838", "UniProtKB:Q8TDP1", "PR:Q8TDP1", "ENSEMBL:ENSP00000308193", "ENSEMBL:ENSP00000308193.5", "ENSEMBL:ENSP00000432081", "ENSEMBL:ENSP00000432081.2", "ENSEMBL:ENSP00000435717", "ENSEMBL:ENSP00000435717.2", "ENSEMBL:ENSP00000493695", "ENSEMBL:ENSP00000493695.1", "UMLS:C2607385"], "information_content": 92.8}
{"id": "NCBIGene:4323", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP14", "equivalent_identifiers": ["NCBIGene:4323", "ENSEMBL:ENSG00000157227", "HGNC:7160", "OMIM:600754", "UMLS:C1417203", "UniProtKB:P50281", "PR:P50281", "ENSEMBL:ENSP00000308208", "ENSEMBL:ENSP00000308208.6", "UMLS:C0671550", "MESH:C507086"], "information_content": 89.4}
{"id": "NCBIGene:285704", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RGMB", "equivalent_identifiers": ["NCBIGene:285704", "ENSEMBL:ENSG00000174136", "HGNC:26896", "OMIM:612687", "UMLS:C1428631", "UniProtKB:J3KNF6", "ENSEMBL:ENSP00000308219", "ENSEMBL:ENSP00000308219.7", "UMLS:C3178313", "MESH:C560433", "UniProtKB:Q6NW40", "PR:Q6NW40", "ENSEMBL:ENSP00000423256", "ENSEMBL:ENSP00000423256.1"]}
{"id": "UniProtKB:Q8N668-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "COMM domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N668-1", "PR:Q8N668-1", "ENSEMBL:ENSP00000308236", "ENSEMBL:ENSP00000308236.5"], "information_content": 100.0}
{"id": "NCBIGene:81490", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTDSS2", "equivalent_identifiers": ["NCBIGene:81490", "ENSEMBL:ENSG00000174915", "HGNC:15463", "OMIM:612793", "UMLS:C1456391", "UniProtKB:Q9BVG9", "PR:Q9BVG9", "ENSEMBL:ENSP00000308258", "ENSEMBL:ENSP00000308258.5"], "information_content": 100.0}
{"id": "MONDO:0014939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 20", "equivalent_identifiers": ["MONDO:0014939", "DOID:0110661", "OMIM:617143", "UMLS:C4310694", "medgen:934661"], "information_content": 100.0}
{"id": "UniProtKB:Q96DV4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein mL38 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DV4-1", "PR:Q96DV4-1", "ENSEMBL:ENSP00000308275", "ENSEMBL:ENSP00000308275.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5VYM1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis-associated protein 31G1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VYM1-1", "PR:Q5VYM1-1", "ENSEMBL:ENSP00000308279", "ENSEMBL:ENSP00000308279.5"], "information_content": 100.0}
{"id": "NCBIGene:170370", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM170B", "equivalent_identifiers": ["NCBIGene:170370", "ENSEMBL:ENSG00000172538", "HGNC:19736", "UMLS:C1426373", "UniProtKB:A6NMN3", "PR:A6NMN3", "ENSEMBL:ENSP00000308292", "ENSEMBL:ENSP00000308292.6"], "information_content": 100.0}
{"id": "MONDO:0009689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 6", "equivalent_identifiers": ["MONDO:0009689", "DOID:0110671", "OMIM:254210", "UMLS:C0393929", "MESH:C535759", "NCIT:C132292", "SNOMEDCT:230670003", "medgen:140751"], "information_content": 100.0}
{"id": "NCBIGene:79660", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R3B", "equivalent_identifiers": ["NCBIGene:79660", "ENSEMBL:ENSG00000173281", "HGNC:14942", "OMIM:610541", "UMLS:C1423073", "UniProtKB:Q86XI6", "PR:Q86XI6", "ENSEMBL:ENSP00000308318", "ENSEMBL:ENSP00000308318.3", "ENSEMBL:ENSP00000428642", "ENSEMBL:ENSP00000428642.1", "ENSEMBL:ENSP00000493491", "ENSEMBL:ENSP00000493491.1", "ENSEMBL:ENSP00000494659", "ENSEMBL:ENSP00000494659.1", "UMLS:C3849440", "MESH:C586823"], "information_content": 88.2}
{"id": "UniProtKB:Q9BRU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rRNA-processing protein UTP23 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRU9-1", "PR:Q9BRU9-1", "ENSEMBL:ENSP00000308332", "ENSEMBL:ENSP00000308332.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96JE7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein transport protein Sec16B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JE7-1", "PR:Q96JE7-1", "ENSEMBL:ENSP00000308339", "ENSEMBL:ENSP00000308339.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8NB16-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mixed lineage kinase domain-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NB16-1", "PR:Q8NB16-1", "ENSEMBL:ENSP00000308351", "ENSEMBL:ENSP00000308351.7"], "information_content": 100.0}
{"id": "NCBIGene:9934", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "P2RY14", "equivalent_identifiers": ["NCBIGene:9934", "ENSEMBL:ENSG00000174944", "HGNC:16442", "OMIM:610116", "UMLS:C1538560", "UniProtKB:A5JUU3", "UMLS:C1259291", "MESH:C509778", "UniProtKB:Q15391", "PR:Q15391", "ENSEMBL:ENSP00000308361", "ENSEMBL:ENSP00000308361.3", "ENSEMBL:ENSP00000408733", "ENSEMBL:ENSP00000408733.2"], "information_content": 95.4}
{"id": "NCBIGene:23592", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LEMD3", "equivalent_identifiers": ["NCBIGene:23592", "ENSEMBL:ENSG00000174106", "HGNC:28887", "OMIM:607844", "UMLS:C1537562", "UniProtKB:Q9Y2U8", "PR:Q9Y2U8", "ENSEMBL:ENSP00000308369", "ENSEMBL:ENSP00000308369.2", "UMLS:C1438822", "MESH:C405329"], "information_content": 90.9}
{"id": "UniProtKB:Q71UI9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone H2A.V isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q71UI9-1", "PR:Q71UI9-1", "ENSEMBL:ENSP00000308405", "ENSEMBL:ENSP00000308405.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBS0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal protein S6 kinase beta-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBS0-1", "PR:Q9UBS0-1", "ENSEMBL:ENSP00000308413", "ENSEMBL:ENSP00000308413.5"], "information_content": 95.4}
{"id": "NCBIGene:80777", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYB5B", "equivalent_identifiers": ["NCBIGene:80777", "ENSEMBL:ENSG00000103018", "HGNC:24374", "OMIM:611964", "UMLS:C1824838", "UniProtKB:O43169", "PR:O43169", "ENSEMBL:ENSP00000308430", "ENSEMBL:ENSP00000308430.8"], "information_content": 92.8}
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{"id": "MONDO:0009605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methemoglobinemia type 4", "equivalent_identifiers": ["MONDO:0009605", "DOID:0112316", "OMIM:250790", "UMLS:C2673427", "UMLS:C4285231", "MESH:C567102", "medgen:925090"], "information_content": 100.0}
{"id": "NCBIGene:3872", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT17", "equivalent_identifiers": ["NCBIGene:3872", "ENSEMBL:ENSG00000128422", "HGNC:6427", "OMIM:148069", "UMLS:C1416728", "UniProtKB:Q04695", "PR:Q04695", "ENSEMBL:ENSP00000308452", "ENSEMBL:ENSP00000308452.8", "UMLS:C4721496", "UMLS:C4743266", "MESH:C000629088", "UniProtKB:Q14666"], "information_content": 95.4}
{"id": "NCBIGene:27289", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RND1", "equivalent_identifiers": ["NCBIGene:27289", "ENSEMBL:ENSG00000172602", "HGNC:18314", "OMIM:609038", "UMLS:C1425441", "UniProtKB:Q92730", "PR:Q92730", "ENSEMBL:ENSP00000308461", "ENSEMBL:ENSP00000308461.5", "UMLS:C1453021", "MESH:C491772"], "information_content": 92.8}
{"id": "NCBIGene:8637", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF4EBP3", "equivalent_identifiers": ["NCBIGene:8637", "ENSEMBL:ENSG00000243056", "HGNC:3290", "OMIM:603483", "UMLS:C1414354", "UniProtKB:O60516", "PR:O60516", "ENSEMBL:ENSP00000308472", "ENSEMBL:ENSP00000308472.2", "UMLS:C1308569", "MESH:C112661"], "information_content": 100.0}
{"id": "UniProtKB:O14893-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gem-associated protein 2 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:O14893-5", "PR:O14893-5", "ENSEMBL:ENSP00000308533", "ENSEMBL:ENSP00000308533.7"], "information_content": 100.0}
{"id": "NCBIGene:2147", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "F2", "equivalent_identifiers": ["NCBIGene:2147", "ENSEMBL:ENSG00000180210", "HGNC:3535", "OMIM:176930", "UMLS:C1414504", "UniProtKB:P00734", "PR:P00734", "ENSEMBL:ENSP00000308541", "ENSEMBL:ENSP00000308541.5", "UMLS:C3540506", "UMLS:C5552806"], "information_content": 76.2}
{"id": "MONDO:0006811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intracranial hypotension", "equivalent_identifiers": ["MONDO:0006811", "DOID:4723", "EFO:1000993", "UMLS:C0524812", "MESH:D019585", "MEDDRA:10049977", "SNOMEDCT:433691000124104", "medgen:141851", "icd11.foundation:363695674", "ICD10:G96.81"], "information_content": 100.0}
{"id": "UniProtKB:Q7L2J0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "7SK snRNA methylphosphate capping enzyme isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L2J0-1", "PR:Q7L2J0-1", "ENSEMBL:ENSP00000308546", "ENSEMBL:ENSP00000308546.2", "ENSEMBL:ENSP00000520510", "ENSEMBL:ENSP00000520510.1"], "information_content": 100.0}
{"id": "NCBIGene:29984", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHOD", "equivalent_identifiers": ["NCBIGene:29984", "ENSEMBL:ENSG00000173156", "HGNC:670", "OMIM:605781", "UMLS:C1412517", "UniProtKB:E9PIG5", "ENSEMBL:ENSP00000432003", "ENSEMBL:ENSP00000432003.1", "UMLS:C0537530", "MESH:C105243", "UniProtKB:O00212", "PR:O00212", "ENSEMBL:ENSP00000308576", "ENSEMBL:ENSP00000308576.2"], "information_content": 95.4}
{"id": "NCBIGene:170959", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF431", "equivalent_identifiers": ["NCBIGene:170959", "ENSEMBL:ENSG00000196705", "HGNC:20809", "OMIM:619505", "UMLS:C1427139", "UniProtKB:Q8TF32", "PR:Q8TF32", "ENSEMBL:ENSP00000308578", "ENSEMBL:ENSP00000308578.6", "UMLS:C3657264", "MESH:C581788"], "information_content": 92.8}
{"id": "UniProtKB:Q8N2Z9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centromere protein S isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2Z9-1", "PR:Q8N2Z9-1", "ENSEMBL:ENSP00000308583", "ENSEMBL:ENSP00000308583.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y238-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deleted in lung and esophageal cancer protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y238-1", "PR:Q9Y238-1", "ENSEMBL:ENSP00000308597", "ENSEMBL:ENSP00000308597.6"], "information_content": 100.0}
{"id": "NCBIGene:155465", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGR3", "equivalent_identifiers": ["NCBIGene:155465", "ENSEMBL:ENSG00000173467", "HGNC:24167", "OMIM:609482", "UMLS:C1836117", "UniProtKB:Q8TD06", "PR:Q8TD06", "ENSEMBL:ENSP00000308606", "ENSEMBL:ENSP00000308606.2", "UMLS:C1175290", "MESH:C472588"], "information_content": 100.0}
{"id": "UniProtKB:P43304-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycerol-3-phosphate dehydrogenase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P43304-1", "PR:P43304-1", "ENSEMBL:ENSP00000308610", "ENSEMBL:ENSP00000308610.5", "ENSEMBL:ENSP00000386425", "ENSEMBL:ENSP00000386425.1", "ENSEMBL:ENSP00000386626", "ENSEMBL:ENSP00000386626.1", "ENSEMBL:ENSP00000409708", "ENSEMBL:ENSP00000409708.2"], "information_content": 100.0}
{"id": "UniProtKB:Q53GS7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mRNA export factor GLE1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53GS7-1", "PR:Q53GS7-1", "ENSEMBL:ENSP00000308622", "ENSEMBL:ENSP00000308622.5"], "information_content": 100.0}
{"id": "MONDO:0016675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal arthrogryposis type 10", "equivalent_identifiers": ["MONDO:0016675", "DOID:0111593", "OMIM:187370", "orphanet:251515", "UMLS:C0555248", "UMLS:C1861238", "MESH:C566069", "SNOMEDCT:1208482007", "SNOMEDCT:275336002", "medgen:349990"], "information_content": 100.0}
{"id": "UniProtKB:Q2PZI1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein C-mannosyl-transferase DPY19L1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2PZI1-1", "PR:Q2PZI1-1", "ENSEMBL:ENSP00000308695", "ENSEMBL:ENSP00000308695.4"], "information_content": 100.0}
{"id": "NCBIGene:3626", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INHBC", "equivalent_identifiers": ["NCBIGene:3626", "ENSEMBL:ENSG00000175189", "HGNC:6068", "OMIM:601233", "UMLS:C1416438", "UniProtKB:P55103", "PR:P55103", "ENSEMBL:ENSP00000308716", "ENSEMBL:ENSP00000308716.2", "UMLS:C1611578", "MESH:C504186"], "information_content": 87.2}
{"id": "UniProtKB:Q96GC5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein mL48 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GC5-1", "PR:Q96GC5-1", "ENSEMBL:ENSP00000308717", "ENSEMBL:ENSP00000308717.7"], "information_content": 100.0}
{"id": "NCBIGene:5644", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS1", "equivalent_identifiers": ["NCBIGene:5644", "ENSEMBL:ENSG00000204983", "HGNC:9475", "OMIM:276000", "UMLS:C1418965", "UniProtKB:P07477", "PR:P07477", "ENSEMBL:ENSP00000308720", "ENSEMBL:ENSP00000308720.7", "ENSEMBL:ENSP00000479217", "ENSEMBL:ENSP00000479217.1", "UMLS:C0960371", "MESH:C489303"], "information_content": 95.4}
{"id": "UniProtKB:P28472-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-aminobutyric acid receptor subunit beta-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P28472-1", "PR:P28472-1", "ENSEMBL:ENSP00000308725", "ENSEMBL:ENSP00000308725.5"], "information_content": 100.0}
{"id": "NCBIGene:134391", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR151", "equivalent_identifiers": ["NCBIGene:134391", "ENSEMBL:ENSG00000173250", "HGNC:23624", "OMIM:618487", "UMLS:C1428170", "UniProtKB:Q8TDV0", "PR:Q8TDV0", "ENSEMBL:ENSP00000308733", "ENSEMBL:ENSP00000308733.2", "UMLS:C5391994", "MESH:C000708776"], "information_content": 100.0}
{"id": "MONDO:0008599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trigeminal neuralgia", "equivalent_identifiers": ["MONDO:0008599", "DOID:12098", "OMIM:190400", "orphanet:221091", "EFO:1001219", "UMLS:C0040997", "MESH:D014277", "MEDDRA:10029227", "MEDDRA:10043837", "MEDDRA:10044652", "SNOMEDCT:31681005", "medgen:21683", "icd11.foundation:1803581281", "ICD10:G50.0", "ICD9:350.1", "HP:0100661"], "information_content": 100.0}
{"id": "UniProtKB:Q14781-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromobox protein homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14781-1", "PR:Q14781-1", "ENSEMBL:ENSP00000308750", "ENSEMBL:ENSP00000308750.4"], "information_content": 100.0}
{"id": "NCBIGene:29766", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMOD3", "equivalent_identifiers": ["NCBIGene:29766", "ENSEMBL:ENSG00000138594", "HGNC:11873", "OMIM:605112", "UMLS:C1420781", "UniProtKB:Q9NYL9", "PR:Q9NYL9", "ENSEMBL:ENSP00000308753", "ENSEMBL:ENSP00000308753.7", "UMLS:C1449367", "UMLS:C3273790", "MESH:C495836"], "information_content": 89.4}
{"id": "UniProtKB:Q9ULJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and BTB domain-containing protein 21 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULJ3-1", "PR:Q9ULJ3-1", "ENSEMBL:ENSP00000308759", "ENSEMBL:ENSP00000308759.5", "ENSEMBL:ENSP00000381512", "ENSEMBL:ENSP00000381512.1", "ENSEMBL:ENSP00000381523", "ENSEMBL:ENSP00000381523.3"], "information_content": 100.0}
{"id": "NCBIGene:27284", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SULT1B1", "equivalent_identifiers": ["NCBIGene:27284", "ENSEMBL:ENSG00000173597", "HGNC:17845", "OMIM:608436", "UMLS:C1425126", "UniProtKB:O43704", "PR:O43704", "ENSEMBL:ENSP00000308770", "ENSEMBL:ENSP00000308770.2", "UMLS:C1431074"], "information_content": 100.0}
{"id": "NCBIGene:257629", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKS4B", "equivalent_identifiers": ["NCBIGene:257629", "ENSEMBL:ENSG00000175311", "HGNC:26795", "OMIM:609901", "UMLS:C1823696", "UniProtKB:Q8N8V4", "PR:Q8N8V4", "ENSEMBL:ENSP00000308772", "ENSEMBL:ENSP00000308772.5", "ENSEMBL:ENSP00000491748", "ENSEMBL:ENSP00000491748.1", "UMLS:C1567926", "MESH:C499675"], "information_content": 100.0}
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{"id": "UniProtKB:Q9HCN6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "platelet glycoprotein VI isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCN6-3", "PR:Q9HCN6-3", "ENSEMBL:ENSP00000308782", "ENSEMBL:ENSP00000308782.3", "ENSEMBL:ENSP00000478025", "ENSEMBL:ENSP00000478025.1", "ENSEMBL:ENSP00000479034", "ENSEMBL:ENSP00000479034.1", "ENSEMBL:ENSP00000479668", "ENSEMBL:ENSP00000479668.1", "ENSEMBL:ENSP00000479975", "ENSEMBL:ENSP00000479975.1", "ENSEMBL:ENSP00000480243", "ENSEMBL:ENSP00000480243.1", "ENSEMBL:ENSP00000481075", "ENSEMBL:ENSP00000481075.1", "ENSEMBL:ENSP00000481524", "ENSEMBL:ENSP00000481524.1", "ENSEMBL:ENSP00000482601", "ENSEMBL:ENSP00000482601.1", "ENSEMBL:ENSP00000484029", "ENSEMBL:ENSP00000484029.1"], "information_content": 100.0}
{"id": "NCBIGene:6363", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL19", "equivalent_identifiers": ["NCBIGene:6363", "ENSEMBL:ENSG00000172724", "HGNC:10617", "OMIM:602227", "UMLS:C1332682", "UniProtKB:Q6IBD6", "UniProtKB:Q99731", "PR:Q99731", "ENSEMBL:ENSP00000308815", "ENSEMBL:ENSP00000308815.2", "UMLS:C1701118", "MESH:C515460"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z5B4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein RIC-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5B4-1", "PR:Q7Z5B4-1", "ENSEMBL:ENSP00000308820", "ENSEMBL:ENSP00000308820.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8TER0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sushi, nidogen and EGF-like domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TER0-1", "PR:Q8TER0-1", "ENSEMBL:ENSP00000308893", "ENSEMBL:ENSP00000308893.8"], "information_content": 100.0}
{"id": "UniProtKB:P41440-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reduced folate transporter isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P41440-1", "PR:P41440-1", "ENSEMBL:ENSP00000308895", "ENSEMBL:ENSP00000308895.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3B7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein uL11m isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3B7-1", "PR:Q9Y3B7-1", "ENSEMBL:ENSP00000308897", "ENSEMBL:ENSP00000308897.7"], "information_content": 100.0}
{"id": "NCBIGene:170261", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZCCHC12", "equivalent_identifiers": ["NCBIGene:170261", "ENSEMBL:ENSG00000174460", "HGNC:27273", "OMIM:300701", "UMLS:C1538160", "UniProtKB:Q6PEW1", "PR:Q6PEW1", "ENSEMBL:ENSP00000308921", "ENSEMBL:ENSP00000308921.2", "UMLS:C2605368", "MESH:C532851"], "information_content": 100.0}
{"id": "NCBIGene:81793", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLR10", "equivalent_identifiers": ["NCBIGene:81793", "ENSEMBL:ENSG00000174123", "HGNC:15634", "OMIM:606270", "UMLS:C1423634", "UniProtKB:Q9BXR5", "PR:Q9BXR5", "ENSEMBL:ENSP00000308925", "ENSEMBL:ENSP00000308925.4", "ENSEMBL:ENSP00000354459", "ENSEMBL:ENSP00000354459.2", "ENSEMBL:ENSP00000421483", "ENSEMBL:ENSP00000421483.1", "ENSEMBL:ENSP00000424923", "ENSEMBL:ENSP00000424923.1", "ENSEMBL:ENSP00000478206", "ENSEMBL:ENSP00000478206.1", "ENSEMBL:ENSP00000478985", "ENSEMBL:ENSP00000478985.1", "UMLS:C0967029", "MESH:C475955"], "information_content": 84.2}
{"id": "NCBIGene:5376", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PMP22", "equivalent_identifiers": ["NCBIGene:5376", "ENSEMBL:ENSG00000109099", "HGNC:9118", "OMIM:601097", "UMLS:C1418677", "UniProtKB:A0A2R8Y5L5", "ENSEMBL:ENSP00000494628", "ENSEMBL:ENSP00000494628.1", "UniProtKB:A8MU75", "ENSEMBL:ENSP00000379268", "ENSEMBL:ENSP00000379268.1", "ENSEMBL:ENSP00000494871", "ENSEMBL:ENSP00000494871.1", "ENSEMBL:ENSP00000496522", "ENSEMBL:ENSP00000496522.1", "UniProtKB:Q01453", "PR:Q01453", "ENSEMBL:ENSP00000308937", "ENSEMBL:ENSP00000308937.3", "ENSEMBL:ENSP00000484631", "ENSEMBL:ENSP00000484631.1", "ENSEMBL:ENSP00000501546", "ENSEMBL:ENSP00000501546.1", "ENSEMBL:ENSP00000501557", "ENSEMBL:ENSP00000501557.1", "ENSEMBL:ENSP00000501727", "ENSEMBL:ENSP00000501727.1", "ENSEMBL:ENSP00000501804", "ENSEMBL:ENSP00000501804.1", "ENSEMBL:ENSP00000502018", "ENSEMBL:ENSP00000502018.1", "ENSEMBL:ENSP00000502310", "ENSEMBL:ENSP00000502310.1", "ENSEMBL:ENSP00000502601", "ENSEMBL:ENSP00000502601.1", "ENSEMBL:ENSP00000502835", "ENSEMBL:ENSP00000502835.1", "UMLS:C1448679", "MESH:C073687", "UniProtKB:Q6FH25"], "information_content": 100.0}
{"id": "NCBIGene:5340", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLG", "equivalent_identifiers": ["NCBIGene:5340", "ENSEMBL:ENSG00000122194", "HGNC:9071", "OMIM:173350", "UMLS:C1367553", "UniProtKB:P00747", "PR:P00747", "ENSEMBL:ENSP00000308938", "ENSEMBL:ENSP00000308938.9", "UMLS:C3887700", "UMLS:C5441720", "UniProtKB:Q5TEH5", "ENSEMBL:ENSP00000355891", "ENSEMBL:ENSP00000355891.2"], "information_content": 76.4}
{"id": "MONDO:0001752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alveolalgia", "equivalent_identifiers": ["MONDO:0001752", "DOID:13585", "UMLS:C0013240", "UMLS:C0085784", "MESH:D004368", "MEDDRA:10001894", "MEDDRA:10013787", "MEDDRA:10013788", "MEDDRA:10066995", "SNOMEDCT:251331003", "SNOMEDCT:61804006", "medgen:3923", "ICD10:M27.3", "ICD9:526.5"], "information_content": 100.0}
{"id": "MONDO:0000840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dysbaric osteonecrosis", "equivalent_identifiers": ["MONDO:0000840", "DOID:0080018", "UMLS:C3494941", "SNOMEDCT:431591000124102", "medgen:782135"], "information_content": 100.0}
{"id": "UniProtKB:Q14527-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "helicase-like transcription factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14527-1", "PR:Q14527-1", "ENSEMBL:ENSP00000308944", "ENSEMBL:ENSP00000308944.5", "ENSEMBL:ENSP00000376644", "ENSEMBL:ENSP00000376644.2", "ENSEMBL:ENSP00000420429", "ENSEMBL:ENSP00000420429.1"], "information_content": 100.0}
{"id": "MONDO:0019567", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ehlers-Danlos syndrome, classic type, 1", "equivalent_identifiers": ["MONDO:0019567", "DOID:14720", "OMIM:130000", "UMLS:C0268335", "MESH:C536194", "NCIT:C125696", "SNOMEDCT:83470009", "medgen:78660"], "information_content": 100.0}
{"id": "UniProtKB:P11464-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pregnancy-specific beta-1-glycoprotein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P11464-2", "PR:P11464-2", "ENSEMBL:ENSP00000308970", "ENSEMBL:ENSP00000308970.6"], "information_content": 100.0}
{"id": "UniProtKB:B2RUY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "von Willebrand factor C domain-containing protein 2-like isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:B2RUY7-1", "PR:B2RUY7-1", "ENSEMBL:ENSP00000308976", "ENSEMBL:ENSP00000308976.5"], "information_content": 100.0}
{"id": "MONDO:0008521", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tarsal-carpal coalition syndrome", "equivalent_identifiers": ["MONDO:0008521", "DOID:0050789", "OMIM:186570", "orphanet:1412", "UMLS:C1861305", "UMLS:C1861306", "MESH:C536943", "MESH:C566089", "SNOMEDCT:702312009", "medgen:348322", "icd11.foundation:1118132902"], "information_content": 100.0}
{"id": "MONDO:0012658", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type B2", "equivalent_identifiers": ["MONDO:0012658", "DOID:0110975", "OMIM:611377", "orphanet:140908", "UMLS:C1969652", "SNOMEDCT:770406002", "medgen:409880", "icd11.foundation:891810441"], "information_content": 100.0}
{"id": "UniProtKB:Q8TBB0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "THAP domain-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBB0-1", "PR:Q8TBB0-1", "ENSEMBL:ENSP00000309007", "ENSEMBL:ENSP00000309007.3", "ENSEMBL:ENSP00000423720", "ENSEMBL:ENSP00000423720.1"], "information_content": 100.0}
{"id": "NCBIGene:80124", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VCPIP1", "equivalent_identifiers": ["NCBIGene:80124", "ENSEMBL:ENSG00000175073", "HGNC:30897", "OMIM:611745", "UMLS:C1540173", "UniProtKB:Q96JH7", "PR:Q96JH7", "ENSEMBL:ENSP00000309031", "ENSEMBL:ENSP00000309031.4", "UMLS:C3657380", "MESH:C581414"], "information_content": 95.4}
{"id": "MONDO:0014735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2Y", "equivalent_identifiers": ["MONDO:0014735", "DOID:0110168", "OMIM:616687", "orphanet:435387", "UMLS:C5569026", "NCIT:C168974", "SNOMEDCT:1187565005", "medgen:1800449"], "information_content": 100.0}
{"id": "NCBIGene:117144", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CATSPER1", "equivalent_identifiers": ["NCBIGene:117144", "ENSEMBL:ENSG00000175294", "HGNC:17116", "OMIM:606389", "UMLS:C1424753", "UniProtKB:Q8NEC5", "PR:Q8NEC5", "ENSEMBL:ENSP00000309052", "ENSEMBL:ENSP00000309052.5", "UMLS:C1098766", "MESH:C438823"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y5P6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mannose-1-phosphate guanylyltransferase catalytic subunit beta isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5P6-2", "PR:Q9Y5P6-2", "ENSEMBL:ENSP00000309092", "ENSEMBL:ENSP00000309092.6"], "information_content": 100.0}
{"id": "MONDO:0011964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DPAGT1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011964", "DOID:0080562", "OMIM:608093", "orphanet:86309", "UMLS:C2931004", "MESH:C535748", "NCIT:C126874", "SNOMEDCT:725079003", "medgen:419694"], "information_content": 100.0}
{"id": "MONDO:0008907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PMM2-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0008907", "DOID:0080552", "OMIM:212065", "orphanet:79318", "UMLS:C0349653", "MESH:C535739", "NCIT:C126868", "SNOMEDCT:277893002", "SNOMEDCT:459063003", "medgen:138111"], "information_content": 100.0}
{"id": "MONDO:0011257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MPI-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011257", "DOID:0080554", "OMIM:602579", "orphanet:79319", "UMLS:C1291610", "UMLS:C1865145", "MESH:C535740", "SNOMEDCT:1231141008", "SNOMEDCT:124668009", "medgen:400692"], "information_content": 100.0}
{"id": "NCBIGene:11041", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B4GAT1", "equivalent_identifiers": ["NCBIGene:11041", "ENSEMBL:ENSG00000174684", "HGNC:15685", "OMIM:605517", "UMLS:C1423631", "UniProtKB:O43505", "PR:O43505", "ENSEMBL:ENSP00000309096", "ENSEMBL:ENSP00000309096.4", "UMLS:C2717540", "MESH:C542575"], "information_content": 90.9}
{"id": "MONDO:0014100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1KK", "equivalent_identifiers": ["MONDO:0014100", "DOID:0110445", "OMIM:615248", "UMLS:C3714995", "UMLS:C3714998", "UMLS:C3808963", "medgen:811544"], "information_content": 100.0}
{"id": "UniProtKB:P35236-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein phosphatase non-receptor type 7 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P35236-3", "PR:P35236-3", "ENSEMBL:ENSP00000309116", "ENSEMBL:ENSP00000309116.5"], "information_content": 100.0}
{"id": "UniProtKB:P78380-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxidized low-density lipoprotein receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78380-1", "PR:P78380-1", "ENSEMBL:ENSP00000309124", "ENSEMBL:ENSP00000309124.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96P11-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "28S rRNA (cytosine-C(5))-methyltransferase isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96P11-4", "PR:Q96P11-4", "ENSEMBL:ENSP00000309126", "ENSEMBL:ENSP00000309126.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZR8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptosis facilitator Bcl-2-like protein 14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZR8-1", "PR:Q9BZR8-1", "ENSEMBL:ENSP00000309132", "ENSEMBL:ENSP00000309132.4", "ENSEMBL:ENSP00000379653", "ENSEMBL:ENSP00000379653.1", "ENSEMBL:ENSP00000467086", "ENSEMBL:ENSP00000467086.1", "ENSEMBL:ENSP00000486050", "ENSEMBL:ENSP00000486050.1", "ENSEMBL:ENSP00000486796", "ENSEMBL:ENSP00000486796.1", "ENSEMBL:ENSP00000487330", "ENSEMBL:ENSP00000487330.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86UD3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase MARCHF3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UD3-1", "PR:Q86UD3-1", "ENSEMBL:ENSP00000309141", "ENSEMBL:ENSP00000309141.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6L8Q7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2',5'-phosphodiesterase 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6L8Q7-1", "PR:Q6L8Q7-1", "ENSEMBL:ENSP00000309142", "ENSEMBL:ENSP00000309142.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9BX82-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 471 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BX82-1", "PR:Q9BX82-1", "ENSEMBL:ENSP00000309161", "ENSEMBL:ENSP00000309161.4"], "information_content": 100.0}
{"id": "NCBIGene:9986", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RCE1", "equivalent_identifiers": ["NCBIGene:9986", "ENSEMBL:ENSG00000173653", "HGNC:13721", "OMIM:605385", "UMLS:C1422161", "UniProtKB:Q0P5W4", "UniProtKB:Q9Y256", "PR:Q9Y256", "ENSEMBL:ENSP00000309163", "ENSEMBL:ENSP00000309163.3", "UMLS:C0769557", "MESH:C491326"], "information_content": 90.9}
{"id": "NCBIGene:344558", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SH3RF3", "equivalent_identifiers": ["NCBIGene:344558", "ENSEMBL:ENSG00000172985", "HGNC:24699", "OMIM:618933", "UMLS:C1428402", "UniProtKB:Q8TEJ3", "PR:Q8TEJ3", "ENSEMBL:ENSP00000309186", "ENSEMBL:ENSP00000309186.6", "UMLS:C2976286", "MESH:C552957"], "information_content": 100.0}
{"id": "MONDO:0010945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 17", "equivalent_identifiers": ["MONDO:0010945", "DOID:0110404", "OMIM:600852", "UMLS:C1833245", "MESH:C563437", "medgen:322153"], "information_content": 100.0}
{"id": "UniProtKB:Q8NA61-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein chibby homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NA61-1", "PR:Q8NA61-1", "ENSEMBL:ENSP00000309189", "ENSEMBL:ENSP00000309189.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15386-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-protein ligase E3C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15386-1", "PR:Q15386-1", "ENSEMBL:ENSP00000309198", "ENSEMBL:ENSP00000309198.8"], "information_content": 100.0}
{"id": "MONDO:0021018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)", "equivalent_identifiers": ["MONDO:0021018", "DOID:0110305", "OMIM:603511", "orphanet:34516", "UMLS:C3148763", "UMLS:C3501858", "UMLS:C4721885", "MESH:C566370", "MESH:C566589", "SNOMEDCT:719987009", "medgen:1648441"], "information_content": 100.0}
{"id": "NCBIGene:57554", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC7", "equivalent_identifiers": ["NCBIGene:57554", "ENSEMBL:ENSG00000033122", "HGNC:18531", "OMIM:614453", "UMLS:C1537596", "UniProtKB:A0A075B6E9", "ENSEMBL:ENSP00000309245", "ENSEMBL:ENSP00000309245.4", "UMLS:C1611072", "MESH:C504461", "UniProtKB:A0A494C1A4", "ENSEMBL:ENSP00000498937", "ENSEMBL:ENSP00000498937.2", "UniProtKB:B1AKT2", "ENSEMBL:ENSP00000359997", "ENSEMBL:ENSP00000359997.1"]}
{"id": "UniProtKB:Q86UV5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 48 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UV5-1", "PR:Q86UV5-1", "ENSEMBL:ENSP00000309262", "ENSEMBL:ENSP00000309262.9"], "information_content": 100.0}
{"id": "NCBIGene:8534", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHST1", "equivalent_identifiers": ["NCBIGene:8534", "ENSEMBL:ENSG00000175264", "HGNC:1969", "OMIM:603797", "UMLS:C1413414", "UniProtKB:O43916", "PR:O43916", "ENSEMBL:ENSP00000309270", "ENSEMBL:ENSP00000309270.2", "UMLS:C1171825", "MESH:C000728081"], "information_content": 95.4}
{"id": "NCBIGene:257236", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP184", "equivalent_identifiers": ["NCBIGene:257236", "ENSEMBL:ENSG00000173013", "HGNC:26900", "OMIM:619347", "UMLS:C1824623", "UniProtKB:Q2M329", "PR:Q2M329", "ENSEMBL:ENSP00000309285", "ENSEMBL:ENSP00000309285.4"], "information_content": 100.0}
{"id": "UniProtKB:P61313-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein eL15 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61313-1", "PR:P61313-1", "ENSEMBL:ENSP00000309334", "ENSEMBL:ENSP00000309334.5", "ENSEMBL:ENSP00000346867", "ENSEMBL:ENSP00000346867.5", "ENSEMBL:ENSP00000388529", "ENSEMBL:ENSP00000388529.1", "ENSEMBL:ENSP00000416692", "ENSEMBL:ENSP00000416692.1", "ENSEMBL:ENSP00000483260", "ENSEMBL:ENSP00000483260.1", "ENSEMBL:ENSP00000493759", "ENSEMBL:ENSP00000493759.1"], "information_content": 100.0}
{"id": "NCBIGene:3222", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXC5", "equivalent_identifiers": ["NCBIGene:3222", "ENSEMBL:ENSG00000172789", "HGNC:5127", "OMIM:142973", "UMLS:C1415679", "UniProtKB:Q00444", "PR:Q00444", "ENSEMBL:ENSP00000309336", "ENSEMBL:ENSP00000309336.2", "UMLS:C1431840", "MESH:C118987"], "information_content": 95.4}
{"id": "UniProtKB:Q9UBD9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cardiotrophin-like cytokine factor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBD9-1", "PR:Q9UBD9-1", "ENSEMBL:ENSP00000309338", "ENSEMBL:ENSP00000309338.7"], "information_content": 100.0}
{"id": "UniProtKB:Q04900-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialomucin core protein 24 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q04900-1", "PR:Q04900-1", "ENSEMBL:ENSP00000309376", "ENSEMBL:ENSP00000309376.4"], "information_content": 100.0}
{"id": "MONDO:0033665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal dominant 78", "equivalent_identifiers": ["MONDO:0033665", "DOID:0112159", "OMIM:619081", "UMLS:C5436768", "medgen:1777362"], "information_content": 100.0}
{"id": "MONDO:0011389", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 16", "equivalent_identifiers": ["MONDO:0011389", "DOID:0110547", "OMIM:603964", "UMLS:C1858916", "MESH:C565832", "medgen:349054"], "information_content": 100.0}
{"id": "MONDO:0014603", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 40", "equivalent_identifiers": ["MONDO:0014603", "DOID:0110566", "OMIM:616357", "UMLS:C4084708", "medgen:896665"], "information_content": 100.0}
{"id": "MONDO:0012902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 27", "equivalent_identifiers": ["MONDO:0012902", "DOID:0110556", "OMIM:612431", "UMLS:C3887929", "medgen:854637"], "information_content": 100.0}
{"id": "NCBIGene:133022", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRAM1L1", "equivalent_identifiers": ["NCBIGene:133022", "ENSEMBL:ENSG00000174599", "HGNC:28371", "OMIM:617505", "UMLS:C1428697", "UniProtKB:Q8N609", "PR:Q8N609", "ENSEMBL:ENSP00000309402", "ENSEMBL:ENSP00000309402.4"], "information_content": 100.0}
{"id": "UniProtKB:P09497-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "clathrin light chain B isoform Brain (human)", "equivalent_identifiers": ["UniProtKB:P09497-1", "PR:P09497-1", "ENSEMBL:ENSP00000309415", "ENSEMBL:ENSP00000309415.4"], "information_content": 100.0}
{"id": "NCBIGene:254359", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZDHHC24", "equivalent_identifiers": ["NCBIGene:254359", "ENSEMBL:ENSG00000174165", "HGNC:27387", "UMLS:C1538169", "UniProtKB:E9PI61", "ENSEMBL:ENSP00000436503", "ENSEMBL:ENSP00000436503.1", "UniProtKB:E9PLR9", "ENSEMBL:ENSP00000431321", "ENSEMBL:ENSP00000431321.1", "UniProtKB:Q6UX98", "PR:Q6UX98", "ENSEMBL:ENSP00000309429", "ENSEMBL:ENSP00000309429.3"], "information_content": 95.4}
{"id": "MONDO:0000397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxic cerebral palsy", "equivalent_identifiers": ["MONDO:0000397", "DOID:0050670", "UMLS:C0394005", "MESH:C562856", "MEDDRA:10086399", "NCIT:C97168", "SNOMEDCT:278512001", "medgen:95998", "icd11.foundation:1134558601"], "information_content": 95.4}
{"id": "UniProtKB:Q96S52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GPI transamidase component PIG-S isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96S52-1", "PR:Q96S52-1", "ENSEMBL:ENSP00000309430", "ENSEMBL:ENSP00000309430.7"], "information_content": 100.0}
{"id": "UniProtKB:Q86VR2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reticulophagy regulator 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VR2-1", "PR:Q86VR2-1", "ENSEMBL:ENSP00000309432", "ENSEMBL:ENSP00000309432.4"], "information_content": 100.0}
{"id": "MONDO:0020717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant wooly hair", "equivalent_identifiers": ["MONDO:0020717", "DOID:0111573", "OMIM:194300", "UMLS:C1860238", "medgen:348571"], "information_content": 100.0}
{"id": "NCBIGene:3219", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXB9", "equivalent_identifiers": ["NCBIGene:3219", "ENSEMBL:ENSG00000170689", "HGNC:5120", "OMIM:142964", "UMLS:C1415672", "UniProtKB:B3KPJ1", "UMLS:C1452955", "MESH:C491257", "UniProtKB:P17482", "PR:P17482", "ENSEMBL:ENSP00000309439", "ENSEMBL:ENSP00000309439.5", "UMLS:C3640146"], "information_content": 95.4}
{"id": "UniProtKB:P49754-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 41 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49754-1", "PR:P49754-1", "ENSEMBL:ENSP00000309457", "ENSEMBL:ENSP00000309457.4"], "information_content": 100.0}
{"id": "MONDO:0003306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical neurofibroma", "equivalent_identifiers": ["MONDO:0003306", "DOID:5153", "UMLS:C1510961", "UMLS:C5557433", "NCIT:C41426", "SNOMEDCT:1290945007", "SNOMEDCT:734083001", "medgen:267320"], "information_content": 100.0}
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{"id": "NCBIGene:387787", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIPT2", "equivalent_identifiers": ["NCBIGene:387787", "ENSEMBL:ENSG00000175536", "HGNC:37216", "OMIM:617659", "UMLS:C2829636", "UniProtKB:A6NK58", "PR:A6NK58", "ENSEMBL:ENSP00000309463", "ENSEMBL:ENSP00000309463.4"], "information_content": 92.8}
{"id": "UniProtKB:Q99460-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome non-ATPase regulatory subunit 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99460-1", "PR:Q99460-1", "ENSEMBL:ENSP00000309474", "ENSEMBL:ENSP00000309474.6", "ENSEMBL:ENSP00000503068", "ENSEMBL:ENSP00000503068.1"], "information_content": 100.0}
{"id": "NCBIGene:48", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACO1", "equivalent_identifiers": ["NCBIGene:48", "ENSEMBL:ENSG00000122729", "HGNC:117", "OMIM:100880", "UMLS:C1412126", "UniProtKB:P21399", "PR:P21399", "ENSEMBL:ENSP00000309477", "ENSEMBL:ENSP00000309477.5", "ENSEMBL:ENSP00000369255", "ENSEMBL:ENSP00000369255.1", "ENSEMBL:ENSP00000438733", "ENSEMBL:ENSP00000438733.2", "UMLS:C2744778", "MESH:C546175", "UniProtKB:Q9HBB2", "UniProtKB:V9HWB7"], "information_content": 90.9}
{"id": "UniProtKB:Q5T6X5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G-protein coupled receptor family C group 6 member A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T6X5-1", "PR:Q5T6X5-1", "ENSEMBL:ENSP00000309493", "ENSEMBL:ENSP00000309493.4"], "information_content": 100.0}
{"id": "NCBIGene:57495", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NWD2", "equivalent_identifiers": ["NCBIGene:57495", "ENSEMBL:ENSG00000174145", "HGNC:29229", "OMIM:620172", "UMLS:C3812029", "UniProtKB:Q9ULI1", "PR:Q9ULI1", "ENSEMBL:ENSP00000309501", "ENSEMBL:ENSP00000309501.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8TE54-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anion exchange transporter isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TE54-2", "PR:Q8TE54-2", "ENSEMBL:ENSP00000309504", "ENSEMBL:ENSP00000309504.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14406-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chorionic somatomammotropin hormone-like 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14406-1", "PR:Q14406-1", "ENSEMBL:ENSP00000309524", "ENSEMBL:ENSP00000309524.5"], "information_content": 100.0}
{"id": "NCBIGene:92196", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DAPL1", "equivalent_identifiers": ["NCBIGene:92196", "ENSEMBL:ENSG00000163331", "HGNC:21490", "UMLS:C1427579", "UniProtKB:A0PJW8", "PR:A0PJW8", "ENSEMBL:ENSP00000309538", "ENSEMBL:ENSP00000309538.4", "UMLS:C4277221", "MESH:C000606731", "UniProtKB:M1E9T5"], "information_content": 95.4}
{"id": "NCBIGene:5222", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGA5", "equivalent_identifiers": ["NCBIGene:5222", "ENSEMBL:ENSG00000256713", "HGNC:8887", "OMIM:169730", "UMLS:C1418500", "UniProtKB:P0DJD9", "PR:P0DJD9", "ENSEMBL:ENSP00000309542", "ENSEMBL:ENSP00000309542.6"], "information_content": 100.0}
{"id": "MONDO:0004755", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monieziasis", "equivalent_identifiers": ["MONDO:0004755", "DOID:931", "EFO:1001372", "UMLS:C0026414", "MESH:D008989", "medgen:6424"], "information_content": 100.0}
{"id": "NCBIGene:57546", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDP2", "equivalent_identifiers": ["NCBIGene:57546", "ENSEMBL:ENSG00000172840", "HGNC:30263", "OMIM:615499", "UMLS:C2829996", "UniProtKB:Q9P2J9", "PR:Q9P2J9", "ENSEMBL:ENSP00000309548", "ENSEMBL:ENSP00000309548.2"], "information_content": 95.4}
{"id": "MONDO:0012596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PSAT deficiency", "equivalent_identifiers": ["MONDO:0012596", "DOID:0050723", "OMIM:610992", "orphanet:284417", "UMLS:C1970253", "MESH:C567032", "SNOMEDCT:718603002", "medgen:410026"], "information_content": 100.0}
{"id": "UniProtKB:P51610-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "host cell factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51610-1", "PR:P51610-1", "ENSEMBL:ENSP00000309555", "ENSEMBL:ENSP00000309555.7"], "information_content": 100.0}
{"id": "MONDO:0002099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Histoplasma capsulatum infectious disease", "equivalent_identifiers": ["MONDO:0002099", "DOID:1759", "UMLS:C0153261", "MEDDRA:10021808", "SNOMEDCT:76255006", "ICD10:B39.4", "ICD9:115.0"], "information_content": 90.9}
{"id": "NCBIGene:7388", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UQCRH", "equivalent_identifiers": ["NCBIGene:7388", "ENSEMBL:ENSG00000173660", "HGNC:12590", "OMIM:613844", "UMLS:C1421373", "UniProtKB:P07919", "PR:P07919", "ENSEMBL:ENSP00000309565", "ENSEMBL:ENSP00000309565.5", "UMLS:C1448538", "UMLS:C3273813", "MESH:C039762", "UniProtKB:Q567R0"], "information_content": 89.4}
{"id": "UniProtKB:O75840-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "krueppel-like factor 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75840-1", "PR:O75840-1", "ENSEMBL:ENSP00000309570", "ENSEMBL:ENSP00000309570.6"], "information_content": 100.0}
{"id": "UniProtKB:O14746-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "telomerase reverse transcriptase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14746-1", "PR:O14746-1", "ENSEMBL:ENSP00000309572", "ENSEMBL:ENSP00000309572.5"], "information_content": 100.0}
{"id": "UniProtKB:P17612-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cAMP-dependent protein kinase catalytic subunit alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P17612-1", "PR:P17612-1", "ENSEMBL:ENSP00000309591", "ENSEMBL:ENSP00000309591.3", "ENSEMBL:ENSP00000499940", "ENSEMBL:ENSP00000499940.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96RR1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "twinkle mtDNA helicase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RR1-1", "PR:Q96RR1-1", "ENSEMBL:ENSP00000309595", "ENSEMBL:ENSP00000309595.2"], "information_content": 100.0}
{"id": "UniProtKB:Q16584-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16584-1", "PR:Q16584-1", "ENSEMBL:ENSP00000309597", "ENSEMBL:ENSP00000309597.3"], "information_content": 100.0}
{"id": "NCBIGene:79797", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF408", "equivalent_identifiers": ["NCBIGene:79797", "ENSEMBL:ENSG00000175213", "HGNC:20041", "OMIM:616454", "UMLS:C1426631", "UniProtKB:B4DXY4", "UMLS:C3711157", "MESH:C582974", "UniProtKB:Q9H9D4", "PR:Q9H9D4", "ENSEMBL:ENSP00000309606", "ENSEMBL:ENSP00000309606.2"], "information_content": 95.4}
{"id": "UniProtKB:Q8NBI6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "xyloside xylosyltransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBI6-1", "PR:Q8NBI6-1", "ENSEMBL:ENSP00000309640", "ENSEMBL:ENSP00000309640.6"], "information_content": 100.0}
{"id": "MONDO:0013002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 9", "equivalent_identifiers": ["MONDO:0013002", "DOID:0111020", "OMIM:612775", "UMLS:C1423873", "medgen:244692"], "information_content": 100.0}
{"id": "NCBIGene:148979", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLIS1", "equivalent_identifiers": ["NCBIGene:148979", "ENSEMBL:ENSG00000174332", "HGNC:29525", "OMIM:610378", "UMLS:C1539572", "UniProtKB:A0A0D9SEX9", "ENSEMBL:ENSP00000486112", "ENSEMBL:ENSP00000486112.1", "UniProtKB:Q8NBF1", "PR:Q8NBF1", "ENSEMBL:ENSP00000309653", "ENSEMBL:ENSP00000309653.2", "UMLS:C1698741", "MESH:C508055"], "information_content": 100.0}
{"id": "NCBIGene:120787", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52W1", "equivalent_identifiers": ["NCBIGene:120787", "ENSEMBL:ENSG00000175485", "HGNC:15239", "UMLS:C1423330", "UniProtKB:Q6IF63", "PR:Q6IF63", "ENSEMBL:ENSP00000309673", "ENSEMBL:ENSP00000309673.2"], "information_content": 100.0}
{"id": "NCBIGene:4034", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRCH4", "equivalent_identifiers": ["NCBIGene:4034", "ENSEMBL:ENSG00000077454", "HGNC:6691", "OMIM:620165", "UMLS:C1537589", "UniProtKB:B4DYF8", "UniProtKB:H7C5D9", "ENSEMBL:ENSP00000419674", "ENSEMBL:ENSP00000419674.2", "UniProtKB:O75427", "PR:O75427", "ENSEMBL:ENSP00000309689", "ENSEMBL:ENSP00000309689.6"], "information_content": 92.8}
{"id": "NCBIGene:285590", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SH3PXD2B", "equivalent_identifiers": ["NCBIGene:285590", "ENSEMBL:ENSG00000174705", "HGNC:29242", "OMIM:613293", "UMLS:C1822712", "UniProtKB:A1X283", "PR:A1X283", "ENSEMBL:ENSP00000309714", "ENSEMBL:ENSP00000309714.5", "UMLS:C2932484", "MESH:C547814", "UniProtKB:G3V144", "ENSEMBL:ENSP00000430890", "ENSEMBL:ENSP00000430890.1"], "information_content": 100.0}
{"id": "MONDO:0001021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ametropic amblyopia", "equivalent_identifiers": ["MONDO:0001021", "DOID:10377", "UMLS:C0152190", "MEDDRA:10038266", "SNOMEDCT:90927000", "medgen:508919", "ICD10:H53.02", "ICD9:368.03"], "information_content": 100.0}
{"id": "NCBIGene:353189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLCO4C1", "equivalent_identifiers": ["NCBIGene:353189", "ENSEMBL:ENSG00000173930", "HGNC:23612", "OMIM:609013", "UMLS:C1428158", "UniProtKB:Q6ZQN7", "PR:Q6ZQN7", "ENSEMBL:ENSP00000309741", "ENSEMBL:ENSP00000309741.6", "UMLS:C1450886", "MESH:C484530"], "information_content": 95.4}
{"id": "UniProtKB:Q8IUX4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA dC->dU-editing enzyme APOBEC-3F isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUX4-1", "PR:Q8IUX4-1", "ENSEMBL:ENSP00000309749", "ENSEMBL:ENSP00000309749.5"], "information_content": 100.0}
{"id": "NCBIGene:201232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC16A13", "equivalent_identifiers": ["NCBIGene:201232", "ENSEMBL:ENSG00000174327", "HGNC:31037", "UMLS:C1429055", "UniProtKB:Q7RTY0", "PR:Q7RTY0", "ENSEMBL:ENSP00000309751", "ENSEMBL:ENSP00000309751.6"], "information_content": 100.0}
{"id": "UniProtKB:P59044-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NACHT, LRR and PYD domains-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P59044-1", "PR:P59044-1", "ENSEMBL:ENSP00000309767", "ENSEMBL:ENSP00000309767.4"], "information_content": 100.0}
{"id": "UniProtKB:A4D0V7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-like and PC-esterase domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A4D0V7-1", "PR:A4D0V7-1", "ENSEMBL:ENSP00000309772", "ENSEMBL:ENSP00000309772.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6P0N0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Mis18-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P0N0-1", "PR:Q6P0N0-1", "ENSEMBL:ENSP00000309790", "ENSEMBL:ENSP00000309790.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TBP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBP0-1", "PR:Q8TBP0-1", "ENSEMBL:ENSP00000309794", "ENSEMBL:ENSP00000309794.2"], "information_content": 100.0}
{"id": "NCBIGene:6169", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL38", "equivalent_identifiers": ["NCBIGene:6169", "ENSEMBL:ENSG00000172809", "HGNC:10349", "OMIM:604182", "UMLS:C1419672", "UniProtKB:P63173", "PR:P63173", "ENSEMBL:ENSP00000309830", "ENSEMBL:ENSP00000309830.6", "ENSEMBL:ENSP00000390279", "ENSEMBL:ENSP00000390279.2", "ENSEMBL:ENSP00000434243", "ENSEMBL:ENSP00000434243.1", "UMLS:C1448639", "MESH:C068468"], "information_content": 89.4}
{"id": "NCBIGene:152206", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC13", "equivalent_identifiers": ["NCBIGene:152206", "ENSEMBL:ENSG00000244607", "HGNC:26358", "UMLS:C1539071", "UniProtKB:Q8IYE1", "PR:Q8IYE1", "ENSEMBL:ENSP00000309836", "ENSEMBL:ENSP00000309836.6", "UniProtKB:Q96LI1"], "information_content": 100.0}
{"id": "MONDO:0008136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated optic nerve hypoplasia", "equivalent_identifiers": ["MONDO:0008136", "DOID:0111531", "OMIM:165550", "orphanet:637061", "UMLS:C0338502", "UMLS:C1833797", "UMLS:C1833798", "UMLS:C4510723", "UMLS:C5936708", "MESH:C563492", "MESH:C563493", "MESH:D000080344", "MEDDRA:10062942", "NCIT:C101268", "NCIT:C98999", "SNOMEDCT:724999003", "SNOMEDCT:95499004", "medgen:322281", "icd11.foundation:609162974", "ICD10:H47.03", "ICD9:377.43", "HP:0000609"], "information_content": 92.8}
{"id": "MONDO:0033480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 45", "equivalent_identifiers": ["MONDO:0033480", "DOID:0080287", "OMIM:617769", "orphanet:589527", "UMLS:C4540400", "SNOMEDCT:1279840000", "medgen:1622156"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHQ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear prelamin A recognition factor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHQ1-1", "PR:Q9UHQ1-1", "ENSEMBL:ENSP00000309899", "ENSEMBL:ENSP00000309899.10"], "information_content": 100.0}
{"id": "UniProtKB:Q99593-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-box transcription factor TBX5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99593-1", "PR:Q99593-1", "ENSEMBL:ENSP00000309913", "ENSEMBL:ENSP00000309913.4", "ENSEMBL:ENSP00000384152", "ENSEMBL:ENSP00000384152.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2V7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein spinster homolog 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2V7-1", "PR:Q9H2V7-1", "ENSEMBL:ENSP00000309945", "ENSEMBL:ENSP00000309945.11"], "information_content": 100.0}
{"id": "MONDO:0010977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brody myopathy", "equivalent_identifiers": ["MONDO:0010977", "DOID:0050692", "OMIM:601003", "orphanet:53347", "UMLS:C1832918", "MESH:C536607", "SNOMEDCT:703530005", "medgen:371441"], "information_content": 100.0}
{"id": "NCBIGene:30008", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EFEMP2", "equivalent_identifiers": ["NCBIGene:30008", "ENSEMBL:ENSG00000172638", "HGNC:3219", "OMIM:604633", "UMLS:C1414298", "UniProtKB:O95967", "PR:O95967", "ENSEMBL:ENSP00000309953", "ENSEMBL:ENSP00000309953.6", "ENSEMBL:ENSP00000435295", "ENSEMBL:ENSP00000435295.1", "UMLS:C0911855", "MESH:C403672", "UniProtKB:Q9H3D5"], "information_content": 92.8}
{"id": "MONDO:0004849", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "emphysema", "equivalent_identifiers": ["MONDO:0004849", "DOID:9675", "EFO:0000464", "UMLS:C0013990", "UMLS:C0029607", "UMLS:C0034067", "MESH:D004646", "MESH:D011656", "MEDDRA:10014561", "MEDDRA:10014563", "MEDDRA:10086064", "NCIT:C196764", "NCIT:C3348", "SNOMEDCT:49158009", "SNOMEDCT:87433001", "medgen:18764", "ICD10:J43.8", "ICD9:492.8", "HP:0002097"], "information_content": 86.3}
{"id": "UniProtKB:P78536-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 17 isoform A (human)", "equivalent_identifiers": ["UniProtKB:P78536-1", "PR:P78536-1", "ENSEMBL:ENSP00000309968", "ENSEMBL:ENSP00000309968.3"], "information_content": 100.0}
{"id": "NCBIGene:254263", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNIH2", "equivalent_identifiers": ["NCBIGene:254263", "ENSEMBL:ENSG00000174871", "HGNC:28744", "OMIM:611288", "UMLS:C1539112", "UniProtKB:Q6PI25", "PR:Q6PI25", "ENSEMBL:ENSP00000310003", "ENSEMBL:ENSP00000310003.6"], "information_content": 100.0}
{"id": "NCBIGene:9975", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NR1D2", "equivalent_identifiers": ["NCBIGene:9975", "ENSEMBL:ENSG00000174738", "HGNC:7963", "OMIM:602304", "UMLS:C1417822", "UniProtKB:B4DXD3", "ENSEMBL:ENSP00000520893", "ENSEMBL:ENSP00000520893.1", "UMLS:C1307397", "MESH:C090977", "UniProtKB:F1D8P2", "UniProtKB:Q14995", "PR:Q14995", "ENSEMBL:ENSP00000310006", "ENSEMBL:ENSP00000310006.3", "UMLS:C3537391"], "information_content": 100.0}
{"id": "NCBIGene:126074", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SWSAP1", "equivalent_identifiers": ["NCBIGene:126074", "ENSEMBL:ENSG00000173928", "HGNC:26638", "OMIM:614536", "UMLS:C1824480", "UniProtKB:A0A6I8PRB2", "ENSEMBL:ENSP00000501355", "ENSEMBL:ENSP00000501355.1", "UniProtKB:Q6NVH7", "PR:Q6NVH7", "ENSEMBL:ENSP00000310008", "ENSEMBL:ENSP00000310008.1", "UMLS:C4761749", "MESH:C000630805"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUB4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA-specific adenosine deaminase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUB4-1", "PR:Q9BUB4-1", "ENSEMBL:ENSP00000310015", "ENSEMBL:ENSP00000310015.3", "ENSEMBL:ENSP00000457501", "ENSEMBL:ENSP00000457501.2"], "information_content": 100.0}
{"id": "MONDO:0012555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornelia de Lange syndrome 3", "equivalent_identifiers": ["MONDO:0012555", "DOID:0080507", "OMIM:610759", "UMLS:C1853099", "medgen:339902"], "information_content": 100.0}
{"id": "UniProtKB:P28906-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hematopoietic progenitor cell antigen CD34 isoform hCD34-F (human)", "equivalent_identifiers": ["UniProtKB:P28906-1", "PR:P28906-1", "ENSEMBL:ENSP00000310036", "ENSEMBL:ENSP00000310036.7"], "information_content": 95.4}
{"id": "MONDO:0000758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bacillary angiomatosis", "equivalent_identifiers": ["MONDO:0000758", "DOID:0060345", "UMLS:C0085434", "MESH:D016917", "MEDDRA:10002463", "MEDDRA:10003971", "NCIT:C3477", "SNOMEDCT:58213005", "medgen:88409", "icd11.foundation:1416616903"], "information_content": 100.0}
{"id": "NCBIGene:90441", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF622", "equivalent_identifiers": ["NCBIGene:90441", "ENSEMBL:ENSG00000173545", "HGNC:30958", "OMIM:608694", "UMLS:C1538201", "UniProtKB:Q969S3", "PR:Q969S3", "ENSEMBL:ENSP00000310042", "ENSEMBL:ENSP00000310042.2", "UMLS:C1120851", "MESH:C448990"], "information_content": 100.0}
{"id": "MONDO:0032899", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia, severe congenital, 8, autosomal dominant", "equivalent_identifiers": ["MONDO:0032899", "DOID:0112135", "OMIM:618752", "orphanet:675767", "UMLS:C5203411", "medgen:1684816"], "information_content": 100.0}
{"id": "MONDO:0014892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0014892", "DOID:0070074", "OMIM:617061", "orphanet:476126", "UMLS:C4310740", "medgen:934707"], "information_content": 100.0}
{"id": "NCBIGene:152877", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM53A", "equivalent_identifiers": ["NCBIGene:152877", "ENSEMBL:ENSG00000174137", "HGNC:31860", "OMIM:617229", "UMLS:C1825114", "UniProtKB:C9JYQ7", "ENSEMBL:ENSP00000419044", "ENSEMBL:ENSP00000419044.1", "UniProtKB:Q6NSI3", "PR:Q6NSI3", "ENSEMBL:ENSP00000310057", "ENSEMBL:ENSP00000310057.6", "ENSEMBL:ENSP00000418243", "ENSEMBL:ENSP00000418243.1", "ENSEMBL:ENSP00000426260", "ENSEMBL:ENSP00000426260.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UL54-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase TAO2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UL54-1", "PR:Q9UL54-1", "ENSEMBL:ENSP00000310094", "ENSEMBL:ENSP00000310094.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5JRV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 255A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JRV8-1", "PR:Q5JRV8-1", "ENSEMBL:ENSP00000310110", "ENSEMBL:ENSP00000310110.5"], "information_content": 100.0}
{"id": "NCBIGene:26472", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R14B", "equivalent_identifiers": ["NCBIGene:26472", "ENSEMBL:ENSG00000173457", "HGNC:9057", "OMIM:601140", "UMLS:C1418632", "UniProtKB:Q96C90", "PR:Q96C90", "ENSEMBL:ENSP00000310117", "ENSEMBL:ENSP00000310117.3", "UMLS:C1418632"], "information_content": 89.4}
{"id": "NCBIGene:144245", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALG10B", "equivalent_identifiers": ["NCBIGene:144245", "ENSEMBL:ENSG00000175548", "HGNC:31088", "OMIM:603313", "UMLS:C1538264", "UniProtKB:F8VXJ0", "ENSEMBL:ENSP00000448819", "ENSEMBL:ENSP00000448819.1", "UniProtKB:Q5I7T1", "PR:Q5I7T1", "ENSEMBL:ENSP00000310120", "ENSEMBL:ENSP00000310120.4", "UMLS:C1870551", "MESH:C518821"], "information_content": 100.0}
{"id": "UniProtKB:Q13200-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome non-ATPase regulatory subunit 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13200-1", "PR:Q13200-1", "ENSEMBL:ENSP00000310129", "ENSEMBL:ENSP00000310129.4"], "information_content": 100.0}
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{"id": "UniProtKB:P15407-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fos-related antigen 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P15407-1", "PR:P15407-1", "ENSEMBL:ENSP00000310170", "ENSEMBL:ENSP00000310170.2"], "information_content": 100.0}
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{"id": "NCBIGene:8302", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLRC4", "equivalent_identifiers": ["NCBIGene:8302", "ENSEMBL:ENSG00000183542", "HGNC:6377", "OMIM:602893", "UMLS:C1416685", "UniProtKB:O43908", "PR:O43908", "ENSEMBL:ENSP00000310216", "ENSEMBL:ENSP00000310216.1", "ENSEMBL:ENSP00000520686", "ENSEMBL:ENSP00000520686.1", "ENSEMBL:ENSP00000520687", "ENSEMBL:ENSP00000520687.1", "UMLS:C1721207", "MESH:C527066"], "information_content": 100.0}
{"id": "MONDO:0006950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal vasculitis", "equivalent_identifiers": ["MONDO:0006950", "DOID:11563", "EFO:1001156", "UMLS:C0152026", "MESH:D031300", "MEDDRA:10038905", "MEDDRA:10047131", "SNOMEDCT:77628002", "medgen:57503", "icd11.foundation:1863208483", "ICD10:H35.06", "ICD9:362.18", "HP:0025188"], "information_content": 95.4}
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{"id": "NCBIGene:81876", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB1B", "equivalent_identifiers": ["NCBIGene:81876", "ENSEMBL:ENSG00000174903", "HGNC:18370", "OMIM:612565", "UMLS:C1425479", "UniProtKB:Q9H0U4", "PR:Q9H0U4", "ENSEMBL:ENSP00000310226", "ENSEMBL:ENSP00000310226.6"], "information_content": 90.9}
{"id": "UniProtKB:Q9Y226-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 22 member 13 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y226-1", "PR:Q9Y226-1", "ENSEMBL:ENSP00000310241", "ENSEMBL:ENSP00000310241.3"], "information_content": 100.0}
{"id": "UniProtKB:O95267-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RAS guanyl-releasing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95267-1", "PR:O95267-1", "ENSEMBL:ENSP00000310244", "ENSEMBL:ENSP00000310244.5"], "information_content": 100.0}
{"id": "NCBIGene:390212", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR152", "equivalent_identifiers": ["NCBIGene:390212", "ENSEMBL:ENSG00000175514", "HGNC:23622", "UMLS:C1428168", "UniProtKB:A0A0I9RJ67", "UniProtKB:Q8TDT2", "PR:Q8TDT2", "ENSEMBL:ENSP00000310255", "ENSEMBL:ENSP00000310255.2"], "information_content": 100.0}
{"id": "MONDO:0014336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency", "equivalent_identifiers": ["MONDO:0014336", "DOID:0070053", "OMIM:615761", "orphanet:404440", "UMLS:C3810406", "medgen:816736"], "information_content": 100.0}
{"id": "UniProtKB:Q9UL03-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrator complex subunit 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UL03-1", "PR:Q9UL03-1", "ENSEMBL:ENSP00000310260", "ENSEMBL:ENSP00000310260.4"], "information_content": 100.0}
{"id": "NCBIGene:8793", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFRSF10D", "equivalent_identifiers": ["NCBIGene:8793", "ENSEMBL:ENSG00000173530", "HGNC:11907", "OMIM:603614", "UMLS:C1420804", "UniProtKB:Q9UBN6", "PR:Q9UBN6", "ENSEMBL:ENSP00000310263", "ENSEMBL:ENSP00000310263.3", "UMLS:C1310460", "MESH:C451501"], "information_content": 95.4}
{"id": "UniProtKB:Q02447-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor Sp3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02447-1", "PR:Q02447-1", "ENSEMBL:ENSP00000310301", "ENSEMBL:ENSP00000310301.6"], "information_content": 100.0}
{"id": "NCBIGene:375337", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOPAZ1", "equivalent_identifiers": ["NCBIGene:375337", "ENSEMBL:ENSG00000173769", "HGNC:24746", "OMIM:614412", "UMLS:C2828843", "UniProtKB:Q8N9V7", "PR:Q8N9V7", "ENSEMBL:ENSP00000310303", "ENSEMBL:ENSP00000310303.4"], "information_content": 100.0}
{"id": "NCBIGene:5029", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "P2RY2", "equivalent_identifiers": ["NCBIGene:5029", "ENSEMBL:ENSG00000175591", "HGNC:8541", "OMIM:600041", "UMLS:C1418219", "UniProtKB:P41231", "PR:P41231", "ENSEMBL:ENSP00000310305", "ENSEMBL:ENSP00000310305.2", "ENSEMBL:ENSP00000377221", "ENSEMBL:ENSP00000377221.2", "ENSEMBL:ENSP00000377222", "ENSEMBL:ENSP00000377222.2"], "information_content": 100.0}
{"id": "NCBIGene:200933", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXO45", "equivalent_identifiers": ["NCBIGene:200933", "ENSEMBL:ENSG00000174013", "HGNC:29148", "OMIM:609112", "UMLS:C1539499", "UniProtKB:P0C2W1", "PR:P0C2W1", "ENSEMBL:ENSP00000310332", "ENSEMBL:ENSP00000310332.6", "UMLS:C1611480", "MESH:C503710"], "information_content": 95.4}
{"id": "NCBIGene:387849", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "REP15", "equivalent_identifiers": ["NCBIGene:387849", "ENSEMBL:ENSG00000174236", "HGNC:33748", "OMIM:610848", "UMLS:C1835811", "UniProtKB:Q6BDI9", "PR:Q6BDI9", "ENSEMBL:ENSP00000310335", "ENSEMBL:ENSP00000310335.2", "UMLS:C1700042", "MESH:C509340"], "information_content": 100.0}
{"id": "MONDO:0010803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eiken syndrome", "equivalent_identifiers": ["MONDO:0010803", "DOID:0111732", "OMIM:600002", "orphanet:79106", "UMLS:C1838779", "MESH:C564010", "SNOMEDCT:720863002", "medgen:325097", "icd11.foundation:467339994"], "information_content": 100.0}
{"id": "UniProtKB:Q96E14-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RecQ-mediated genome instability protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96E14-1", "PR:Q96E14-1", "ENSEMBL:ENSP00000310356", "ENSEMBL:ENSP00000310356.5"], "information_content": 100.0}
{"id": "UniProtKB:Q15049-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane protein MLC1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15049-1", "PR:Q15049-1", "ENSEMBL:ENSP00000310375", "ENSEMBL:ENSP00000310375.6", "ENSEMBL:ENSP00000379216", "ENSEMBL:ENSP00000379216.2"], "information_content": 100.0}
{"id": "NCBIGene:2829", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XCR1", "equivalent_identifiers": ["NCBIGene:2829", "ENSEMBL:ENSG00000173578", "HGNC:1625", "OMIM:600552", "UMLS:C1337029", "UniProtKB:P46094", "PR:P46094", "ENSEMBL:ENSP00000310405", "ENSEMBL:ENSP00000310405.3", "ENSEMBL:ENSP00000379277", "ENSEMBL:ENSP00000379277.3", "ENSEMBL:ENSP00000507745", "ENSEMBL:ENSP00000507745.1", "UMLS:C0293564", "MESH:C091671", "UniProtKB:Q502V0", "UniProtKB:Q689E2"], "information_content": 100.0}
{"id": "UniProtKB:Q13671-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras and Rab interactor 1 isoform hRIN1 (human)", "equivalent_identifiers": ["UniProtKB:Q13671-1", "PR:Q13671-1", "ENSEMBL:ENSP00000310406", "ENSEMBL:ENSP00000310406.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAT1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ERGIC-53-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAT1-1", "PR:Q9HAT1-1", "ENSEMBL:ENSP00000310431", "ENSEMBL:ENSP00000310431.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UI32-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutaminase liver isoform, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UI32-1", "PR:Q9UI32-1", "ENSEMBL:ENSP00000310447", "ENSEMBL:ENSP00000310447.4"], "information_content": 100.0}
{"id": "UniProtKB:O43290-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U4/U6.U5 tri-snRNP-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43290-1", "PR:O43290-1", "ENSEMBL:ENSP00000310448", "ENSEMBL:ENSP00000310448.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ31-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-kinase-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ31-1", "PR:Q9NQ31-1", "ENSEMBL:ENSP00000310459", "ENSEMBL:ENSP00000310459.4", "ENSEMBL:ENSP00000431331", "ENSEMBL:ENSP00000431331.1"], "information_content": 100.0}
{"id": "NCBIGene:392", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGAP1", "equivalent_identifiers": ["NCBIGene:392", "ENSEMBL:ENSG00000175220", "HGNC:673", "OMIM:602732", "UMLS:C1412520", "UniProtKB:Q07960", "PR:Q07960", "ENSEMBL:ENSP00000310491", "ENSEMBL:ENSP00000310491.4", "UMLS:C4508329", "MESH:C000621391"], "information_content": 90.9}
{"id": "NCBIGene:5619", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRM1", "equivalent_identifiers": ["NCBIGene:5619", "ENSEMBL:ENSG00000175646", "HGNC:9447", "OMIM:182880", "UMLS:C1418939", "UniProtKB:P04553", "PR:P04553", "ENSEMBL:ENSP00000310515", "ENSEMBL:ENSP00000310515.3", "UMLS:C1668296", "MESH:C082073", "UniProtKB:Q3MN80"], "information_content": 92.8}
{"id": "UniProtKB:Q92889-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA repair endonuclease XPF isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92889-1", "PR:Q92889-1", "ENSEMBL:ENSP00000310520", "ENSEMBL:ENSP00000310520.7"], "information_content": 100.0}
{"id": "NCBIGene:26984", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEC22A", "equivalent_identifiers": ["NCBIGene:26984", "ENSEMBL:ENSG00000121542", "HGNC:20260", "OMIM:612442", "UMLS:C1822667", "UniProtKB:Q96IW7", "PR:Q96IW7", "ENSEMBL:ENSP00000310521", "ENSEMBL:ENSP00000310521.4", "ENSEMBL:ENSP00000417972", "ENSEMBL:ENSP00000417972.1", "UMLS:C1434621", "MESH:C484373"], "information_content": 89.4}
{"id": "NCBIGene:203054", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADCK5", "equivalent_identifiers": ["NCBIGene:203054", "ENSEMBL:ENSG00000173137", "HGNC:21738", "OMIM:621165", "UMLS:C1427730", "UniProtKB:Q3MIX3", "PR:Q3MIX3", "ENSEMBL:ENSP00000310547", "ENSEMBL:ENSP00000310547.6", "ENSEMBL:ENSP00000494807", "ENSEMBL:ENSP00000494807.1", "UMLS:C5433270", "MESH:C000712129"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysocardiolipin acyltransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWP7-1", "PR:Q6UWP7-1", "ENSEMBL:ENSP00000310551", "ENSEMBL:ENSP00000310551.4"], "information_content": 100.0}
{"id": "NCBIGene:10008", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNE3", "equivalent_identifiers": ["NCBIGene:10008", "ENSEMBL:ENSG00000175538", "HGNC:6243", "OMIM:604433", "UMLS:C1416566", "UniProtKB:Q6IAE6", "UMLS:C0963380", "MESH:C418492", "UniProtKB:Q9Y6H6", "PR:Q9Y6H6", "ENSEMBL:ENSP00000310557", "ENSEMBL:ENSP00000310557.4", "ENSEMBL:ENSP00000433633", "ENSEMBL:ENSP00000433633.1"], "information_content": 95.4}
{"id": "UniProtKB:A7KAX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 32 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A7KAX9-1", "PR:A7KAX9-1", "ENSEMBL:ENSP00000310561", "ENSEMBL:ENSP00000310561.8"], "information_content": 100.0}
{"id": "NCBIGene:92126", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DSEL", "equivalent_identifiers": ["NCBIGene:92126", "ENSEMBL:ENSG00000171451", "HGNC:18144", "OMIM:611125", "UMLS:C1425342", "UniProtKB:Q8IZU8", "PR:Q8IZU8", "ENSEMBL:ENSP00000310565", "ENSEMBL:ENSP00000310565.8", "ENSEMBL:ENSP00000460321", "ENSEMBL:ENSP00000460321.1"], "information_content": 95.4}
{"id": "MONDO:0010013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Snail-like ilia", "equivalent_identifiers": ["MONDO:0010013", "DOID:0050775", "OMIM:269250", "orphanet:3144", "UMLS:C0432194", "UMLS:C1849290", "MESH:C536637", "SNOMEDCT:254049009", "medgen:98475", "icd11.foundation:584032448", "HP:0031026"], "information_content": 100.0}
{"id": "UniProtKB:P62195-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome regulatory subunit 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P62195-1", "PR:P62195-1", "ENSEMBL:ENSP00000310572", "ENSEMBL:ENSP00000310572.6"], "information_content": 100.0}
{"id": "NCBIGene:147183", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT25", "equivalent_identifiers": ["NCBIGene:147183", "ENSEMBL:ENSG00000204897", "HGNC:30839", "OMIM:616646", "UMLS:C1825743", "UniProtKB:Q6ZPD6", "UMLS:C5196922", "MESH:C000630468", "UniProtKB:Q7Z3Z0", "PR:Q7Z3Z0", "ENSEMBL:ENSP00000310573", "ENSEMBL:ENSP00000310573.4"], "information_content": 92.8}
{"id": "UniProtKB:Q8IVA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Purkinje cell protein 2 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVA1-1", "PR:Q8IVA1-1", "ENSEMBL:ENSP00000310585", "ENSEMBL:ENSP00000310585.4"], "information_content": 100.0}
{"id": "MONDO:0014611", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 4", "equivalent_identifiers": ["MONDO:0014611", "DOID:0080136", "OMIM:616370", "orphanet:457406", "UMLS:C4225348", "SNOMEDCT:1208621008", "medgen:899010"], "information_content": 100.0}
{"id": "UniProtKB:Q49MG5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-associated protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q49MG5-1", "PR:Q49MG5-1", "ENSEMBL:ENSP00000310593", "ENSEMBL:ENSP00000310593.4", "ENSEMBL:ENSP00000498412", "ENSEMBL:ENSP00000498412.1"], "information_content": 100.0}
{"id": "NCBIGene:27257", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LSM1", "equivalent_identifiers": ["NCBIGene:27257", "ENSEMBL:ENSG00000175324", "HGNC:20472", "OMIM:607281", "UMLS:C1426957", "UniProtKB:A0A0S2Z590", "UMLS:C1143114", "MESH:C464824", "UniProtKB:O15116", "PR:O15116", "ENSEMBL:ENSP00000310596", "ENSEMBL:ENSP00000310596.4"], "information_content": 92.8}
{"id": "UniProtKB:Q86XE0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-32 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XE0-1", "PR:Q86XE0-1", "ENSEMBL:ENSP00000310620", "ENSEMBL:ENSP00000310620.6"], "information_content": 100.0}
{"id": "NCBIGene:403314", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOBEC4", "equivalent_identifiers": ["NCBIGene:403314", "ENSEMBL:ENSG00000173627", "HGNC:32152", "OMIM:609908", "UMLS:C1824091", "UniProtKB:Q8WW27", "PR:Q8WW27", "ENSEMBL:ENSP00000310622", "ENSEMBL:ENSP00000310622.4", "UMLS:C1722298", "MESH:C510823"], "information_content": 95.4}
{"id": "UniProtKB:Q9H1K1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "iron-sulfur cluster assembly enzyme ISCU isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1K1-1", "PR:Q9H1K1-1", "ENSEMBL:ENSP00000310623", "ENSEMBL:ENSP00000310623.9"], "information_content": 95.4}
{"id": "NCBIGene:116512", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRGPRD", "equivalent_identifiers": ["NCBIGene:116512", "ENSEMBL:ENSG00000172938", "HGNC:29626", "OMIM:607231", "UMLS:C1428882", "UniProtKB:Q8TDS7", "PR:Q8TDS7", "ENSEMBL:ENSP00000310631", "ENSEMBL:ENSP00000310631.3", "UMLS:C3884254", "MESH:C000591482"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDC3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase BRSK1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDC3-1", "PR:Q8TDC3-1", "ENSEMBL:ENSP00000310649", "ENSEMBL:ENSP00000310649.1"], "information_content": 100.0}
{"id": "UniProtKB:P52849-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P52849-1", "PR:P52849-1", "ENSEMBL:ENSP00000299641", "ENSEMBL:ENSP00000299641.5", "ENSEMBL:ENSP00000310657", "ENSEMBL:ENSP00000310657.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ36-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal peptide, CUB and EGF-like domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ36-1", "PR:Q9NQ36-1", "ENSEMBL:ENSP00000310658", "ENSEMBL:ENSP00000310658.3"], "information_content": 100.0}
{"id": "NCBIGene:27115", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDE7B", "equivalent_identifiers": ["NCBIGene:27115", "ENSEMBL:ENSG00000171408", "HGNC:8792", "OMIM:604645", "UMLS:C1418432", "UniProtKB:Q9NP56", "PR:Q9NP56", "ENSEMBL:ENSP00000310661", "ENSEMBL:ENSP00000310661.6", "UMLS:C1438727", "MESH:C517463"], "information_content": 95.4}
{"id": "UniProtKB:Q8N1F7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear pore complex protein Nup93 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1F7-1", "PR:Q8N1F7-1", "ENSEMBL:ENSP00000310668", "ENSEMBL:ENSP00000310668.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8N163-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell cycle and apoptosis regulator protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N163-1", "PR:Q8N163-1", "ENSEMBL:ENSP00000310670", "ENSEMBL:ENSP00000310670.4", "ENSEMBL:ENSP00000373930", "ENSEMBL:ENSP00000373930.3"], "information_content": 100.0}
{"id": "NCBIGene:225", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABCD2", "equivalent_identifiers": ["NCBIGene:225", "ENSEMBL:ENSG00000173208", "HGNC:66", "OMIM:601081", "UMLS:C1412089", "UniProtKB:Q9UBJ2", "PR:Q9UBJ2", "ENSEMBL:ENSP00000310688", "ENSEMBL:ENSP00000310688.3", "UMLS:C0968157", "MESH:C431694"], "information_content": 95.4}
{"id": "UniProtKB:O60909-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-1,4-galactosyltransferase 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O60909-3", "PR:O60909-3", "ENSEMBL:ENSP00000310696", "ENSEMBL:ENSP00000310696.7"], "information_content": 100.0}
{"id": "NCBIGene:9420", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP7B1", "equivalent_identifiers": ["NCBIGene:9420", "ENSEMBL:ENSG00000172817", "HGNC:2652", "OMIM:603711", "UMLS:C1413894", "UniProtKB:O75881", "PR:O75881", "ENSEMBL:ENSP00000310721", "ENSEMBL:ENSP00000310721.3", "UMLS:C1432900", "MESH:C499571", "UniProtKB:Q05C57"], "information_content": 86.3}
{"id": "NCBIGene:4342", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MOS", "equivalent_identifiers": ["NCBIGene:4342", "ENSEMBL:ENSG00000172680", "HGNC:7199", "OMIM:190060", "UMLS:C0026574", "UniProtKB:P00540", "PR:P00540", "ENSEMBL:ENSP00000310722", "ENSEMBL:ENSP00000310722.1", "UMLS:C3853646"], "information_content": 100.0}
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{"id": "MONDO:0008559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia due to thrombin defect", "equivalent_identifiers": ["MONDO:0008559", "DOID:0080701", "DOID:0111907", "OMIM:188050", "UMLS:C0042487", "UMLS:C3160733", "MESH:D020246", "MEDDRA:10034904", "MEDDRA:10043640", "MEDDRA:10047249", "MEDDRA:10047253", "NCIT:C99107", "SNOMEDCT:111293003", "medgen:463623", "HP:0004936"], "information_content": 81.7}
{"id": "NCBIGene:8722", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTSF", "equivalent_identifiers": ["NCBIGene:8722", "ENSEMBL:ENSG00000174080", "HGNC:2531", "OMIM:603539", "UMLS:C1413813", "UniProtKB:Q9UBX1", "PR:Q9UBX1", "ENSEMBL:ENSP00000310832", "ENSEMBL:ENSP00000310832.5", "UMLS:C2606241", "MESH:C534090"], "information_content": 88.2}
{"id": "UniProtKB:Q5XUX0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 31 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5XUX0-1", "PR:Q5XUX0-1", "ENSEMBL:ENSP00000310841", "ENSEMBL:ENSP00000310841.4"], "information_content": 100.0}
{"id": "MONDO:0032526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 48", "equivalent_identifiers": ["MONDO:0032526", "DOID:0111746", "OMIM:618093", "orphanet:631103", "EFO:0010251", "UMLS:C4748158", "medgen:1648409"], "information_content": 100.0}
{"id": "MONDO:0014339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 16", "equivalent_identifiers": ["MONDO:0014339", "DOID:0080029", "OMIM:615768", "orphanet:412057", "UMLS:C5190574", "SNOMEDCT:782719004", "medgen:1674542"], "information_content": 100.0}
{"id": "MONDO:0012432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 5", "equivalent_identifiers": ["MONDO:0012432", "DOID:0111000", "OMIM:610188", "UMLS:C1857780", "MESH:C537688", "medgen:347545"], "information_content": 100.0}
{"id": "MONDO:0009830", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "parkinsonian-pyramidal syndrome", "equivalent_identifiers": ["MONDO:0009830", "DOID:0060372", "OMIM:260300", "orphanet:171695", "UMLS:C1850100", "MESH:C538104", "NCIT:C198607", "SNOMEDCT:783012006", "medgen:337969", "icd11.foundation:1128311778"], "information_content": 95.4}
{"id": "MONDO:0012626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 4", "equivalent_identifiers": ["MONDO:0012626", "DOID:0070118", "OMIM:611134", "UMLS:C1970161", "UMLS:C1970162", "MESH:C567003", "MESH:C567004", "medgen:410003"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVI1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fanconi anemia group I protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVI1-3", "PR:Q9NVI1-3", "ENSEMBL:ENSP00000310842", "ENSEMBL:ENSP00000310842.8", "ENSEMBL:ENSP00000512832", "ENSEMBL:ENSP00000512832.1"], "information_content": 100.0}
{"id": "NCBIGene:317703", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VN1R4", "equivalent_identifiers": ["NCBIGene:317703", "ENSEMBL:ENSG00000228567", "HGNC:19871", "UMLS:C1426496", "UniProtKB:Q7Z5H5", "PR:Q7Z5H5", "ENSEMBL:ENSP00000310856", "ENSEMBL:ENSP00000310856.4"], "information_content": 100.0}
{"id": "NCBIGene:3849", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT2", "equivalent_identifiers": ["NCBIGene:3849", "ENSEMBL:ENSG00000172867", "HGNC:6439", "OMIM:600194", "UMLS:C1825741", "UniProtKB:P35908", "PR:P35908", "ENSEMBL:ENSP00000310861", "ENSEMBL:ENSP00000310861.3", "UMLS:C1448831", "MESH:C089241"], "information_content": 100.0}
{"id": "UniProtKB:Q96H96-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96H96-4", "PR:Q96H96-4", "ENSEMBL:ENSP00000310873", "ENSEMBL:ENSP00000310873.4"], "information_content": 100.0}
{"id": "MONDO:0012221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-N-acetylgalactosaminidase deficiency type 1", "equivalent_identifiers": ["MONDO:0012221", "DOID:0112318", "OMIM:609241", "orphanet:79279", "UMLS:C1836544", "MESH:C536631", "SNOMEDCT:879937000", "medgen:373113", "icd11.foundation:1058486825"], "information_content": 100.0}
{"id": "UniProtKB:P21145-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myelin and lymphocyte protein isoform A (human)", "equivalent_identifiers": ["UniProtKB:P21145-1", "PR:P21145-1", "ENSEMBL:ENSP00000310880", "ENSEMBL:ENSP00000310880.4"], "information_content": 100.0}
{"id": "NCBIGene:1466", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSRP2", "equivalent_identifiers": ["NCBIGene:1466", "ENSEMBL:ENSG00000175183", "HGNC:2470", "OMIM:601871", "UMLS:C1413767", "UniProtKB:A0A024RBB5", "UMLS:C0388539", "MESH:C098930", "UniProtKB:F8VW96", "ENSEMBL:ENSP00000449824", "ENSEMBL:ENSP00000449824.1", "UniProtKB:Q16527", "PR:Q16527", "ENSEMBL:ENSP00000310901", "ENSEMBL:ENSP00000310901.5", "ENSEMBL:ENSP00000450056", "ENSEMBL:ENSP00000450056.1"], "information_content": 92.8}
{"id": "UniProtKB:Q03181-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisome proliferator-activated receptor delta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q03181-1", "PR:Q03181-1", "ENSEMBL:ENSP00000310928", "ENSEMBL:ENSP00000310928.4", "ENSEMBL:ENSP00000353916", "ENSEMBL:ENSP00000353916.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXG6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAP kinase-activating death domain protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXG6-1", "PR:Q8WXG6-1", "ENSEMBL:ENSP00000310933", "ENSEMBL:ENSP00000310933.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUZ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-phosphohydroxy-L-lysine phospho-lyase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUZ5-1", "PR:Q8IUZ5-1", "ENSEMBL:ENSP00000310978", "ENSEMBL:ENSP00000310978.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UK23-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UK23-1", "PR:Q9UK23-1", "ENSEMBL:ENSP00000310998", "ENSEMBL:ENSP00000310998.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13164-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13164-1", "PR:Q13164-1", "ENSEMBL:ENSP00000311005", "ENSEMBL:ENSP00000311005.5", "ENSEMBL:ENSP00000378966", "ENSEMBL:ENSP00000378966.4", "ENSEMBL:ENSP00000378968", "ENSEMBL:ENSP00000378968.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9UKW6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS-related transcription factor Elf-5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKW6-1", "PR:Q9UKW6-1", "ENSEMBL:ENSP00000311010", "ENSEMBL:ENSP00000311010.2"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000311030", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000311030", "equivalent_identifiers": ["ENSEMBL:ENSP00000311030"]}
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{"id": "UniProtKB:Q8TD46-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell surface glycoprotein CD200 receptor 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8TD46-4", "PR:Q8TD46-4", "ENSEMBL:ENSP00000311035", "ENSEMBL:ENSP00000311035.3"], "information_content": 100.0}
{"id": "NCBIGene:1163", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CKS1B", "equivalent_identifiers": ["NCBIGene:1163", "ENSEMBL:ENSG00000173207", "HGNC:19083", "OMIM:116900", "UMLS:C1425999", "UniProtKB:P61024", "PR:P61024", "ENSEMBL:ENSP00000311083", "ENSEMBL:ENSP00000311083.5", "UMLS:C1430232", "MESH:C093090", "UniProtKB:Q5T178"], "information_content": 95.4}
{"id": "UniProtKB:Q02928-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 4A11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02928-1", "PR:Q02928-1", "ENSEMBL:ENSP00000311095", "ENSEMBL:ENSP00000311095.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAA3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome subunit alpha-type 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAA3-1", "PR:Q8TAA3-1", "ENSEMBL:ENSP00000311121", "ENSEMBL:ENSP00000311121.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDY8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 52 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDY8-1", "PR:Q8NDY8-1", "ENSEMBL:ENSP00000311122", "ENSEMBL:ENSP00000311122.3"], "information_content": 100.0}
{"id": "UniProtKB:P49765-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vascular endothelial growth factor B isoform VEGF-B186 (human)", "equivalent_identifiers": ["UniProtKB:P49765-1", "PR:P49765-1", "ENSEMBL:ENSP00000311127", "ENSEMBL:ENSP00000311127.2"], "information_content": 100.0}
{"id": "NCBIGene:57647", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DHX37", "equivalent_identifiers": ["NCBIGene:57647", "ENSEMBL:ENSG00000150990", "HGNC:17210", "OMIM:617362", "UMLS:C1424824", "UniProtKB:Q8IY37", "PR:Q8IY37", "ENSEMBL:ENSP00000311135", "ENSEMBL:ENSP00000311135.2", "UMLS:C5197265", "MESH:C000631567"], "information_content": 92.8}
{"id": "UniProtKB:P29972-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aquaporin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P29972-1", "PR:P29972-1", "ENSEMBL:ENSP00000311165", "ENSEMBL:ENSP00000311165.4", "ENSEMBL:ENSP00000498672", "ENSEMBL:ENSP00000498672.1"], "information_content": 100.0}
{"id": "MONDO:0009837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroid plexus papilloma", "equivalent_identifiers": ["MONDO:0009837", "DOID:2626", "OMIM:260500", "orphanet:2807", "EFO:1000177", "UMLS:C0205770", "UMLS:C1332963", "UMLS:C1960516", "MESH:D020288", "MEDDRA:10008777", "NCIT:C3698", "NCIT:C5800", "SNOMEDCT:1156641000", "SNOMEDCT:18021007", "SNOMEDCT:425868004", "medgen:64439", "icd11.foundation:1696749652", "HP:0200022"], "information_content": 92.8}
{"id": "UniProtKB:Q8IUM7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal PAS domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUM7-1", "PR:Q8IUM7-1", "ENSEMBL:ENSP00000311196", "ENSEMBL:ENSP00000311196.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWR1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 59 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWR1-1", "PR:Q8IWR1-1", "ENSEMBL:ENSP00000311219", "ENSEMBL:ENSP00000311219.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9HA38-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger matrin-type protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HA38-1", "PR:Q9HA38-1", "ENSEMBL:ENSP00000311221", "ENSEMBL:ENSP00000311221.2"], "information_content": 100.0}
{"id": "NCBIGene:641371", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACOT1", "equivalent_identifiers": ["NCBIGene:641371", "ENSEMBL:ENSG00000184227", "HGNC:33128", "OMIM:614313", "UMLS:C1825827", "UniProtKB:E9KL42", "UMLS:C4277184", "MESH:C000606872", "UniProtKB:Q86TX2", "PR:Q86TX2", "ENSEMBL:ENSP00000311224", "ENSEMBL:ENSP00000311224.4"], "information_content": 92.8}
{"id": "DOID:0040037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aztreonam allergy", "equivalent_identifiers": ["DOID:0040037", "UMLS:C0571476", "SNOMEDCT:294565006"]}
{"id": "DOID:0040023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cefaclor allergy", "equivalent_identifiers": ["DOID:0040023", "UMLS:C0571453", "SNOMEDCT:294541008"]}
{"id": "DOID:0040025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cefuroxime allergy", "equivalent_identifiers": ["DOID:0040025", "UMLS:C0571454", "SNOMEDCT:294542001"]}
{"id": "MONDO:0013690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pitt-Hopkins-like syndrome 2", "equivalent_identifiers": ["MONDO:0013690", "DOID:0111332", "OMIM:614325", "UMLS:C3280479", "medgen:482109"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2F5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "storkhead-box protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2F5-1", "PR:Q9P2F5-1", "ENSEMBL:ENSP00000311257", "ENSEMBL:ENSP00000311257.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXX0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal heavy chain 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXX0-1", "PR:Q8WXX0-1", "ENSEMBL:ENSP00000311273", "ENSEMBL:ENSP00000311273.6"], "information_content": 100.0}
{"id": "NCBIGene:2000", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELF4", "equivalent_identifiers": ["NCBIGene:2000", "ENSEMBL:ENSG00000102034", "HGNC:3319", "OMIM:300775", "UMLS:C1414377", "UniProtKB:Q99607", "PR:Q99607", "ENSEMBL:ENSP00000311280", "ENSEMBL:ENSP00000311280.6", "ENSEMBL:ENSP00000338608", "ENSEMBL:ENSP00000338608.7", "UMLS:C1308499", "MESH:C111931"], "information_content": 100.0}
{"id": "NCBIGene:5626", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PROP1", "equivalent_identifiers": ["NCBIGene:5626", "ENSEMBL:ENSG00000175325", "HGNC:9455", "OMIM:601538", "UMLS:C1418947", "UniProtKB:A0A0G2JQ02", "ENSEMBL:ENSP00000484677", "ENSEMBL:ENSP00000484677.1", "UMLS:C1744229", "UniProtKB:O75360", "PR:O75360", "ENSEMBL:ENSP00000311290", "ENSEMBL:ENSP00000311290.2"], "information_content": 100.0}
{"id": "MONDO:0019498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tungiasis", "equivalent_identifiers": ["MONDO:0019498", "DOID:0050266", "orphanet:879", "EFO:1001445", "UMLS:C0277356", "MESH:D058285", "MEDDRA:10080488", "SNOMEDCT:64612002", "medgen:78823", "icd11.foundation:2076748409"], "information_content": 100.0}
{"id": "NCBIGene:6578", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLCO2A1", "equivalent_identifiers": ["NCBIGene:6578", "ENSEMBL:ENSG00000174640", "HGNC:10955", "OMIM:601460", "UMLS:C1420129", "UniProtKB:Q92959", "PR:Q92959", "ENSEMBL:ENSP00000311291", "ENSEMBL:ENSP00000311291.4", "UMLS:C1620000", "MESH:C503526"], "information_content": 90.9}
{"id": "NCBIGene:1521", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTSW", "equivalent_identifiers": ["NCBIGene:1521", "ENSEMBL:ENSG00000172543", "HGNC:2546", "OMIM:602364", "UMLS:C1413822", "UniProtKB:P56202", "PR:P56202", "ENSEMBL:ENSP00000311300", "ENSEMBL:ENSP00000311300.3", "UMLS:C2603993", "MESH:C534187"], "information_content": 100.0}
{"id": "NCBIGene:1474", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CST6", "equivalent_identifiers": ["NCBIGene:1474", "ENSEMBL:ENSG00000175315", "HGNC:2478", "OMIM:601891", "UMLS:C1413775", "UniProtKB:Q15828", "PR:Q15828", "ENSEMBL:ENSP00000311313", "ENSEMBL:ENSP00000311313.2", "UMLS:C0534343", "MESH:C525104"], "information_content": 87.2}
{"id": "UniProtKB:Q86TL0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine protease ATG4D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86TL0-1", "PR:Q86TL0-1", "ENSEMBL:ENSP00000311318", "ENSEMBL:ENSP00000311318.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAU3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 417 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAU3-1", "PR:Q8TAU3-1", "ENSEMBL:ENSP00000311319", "ENSEMBL:ENSP00000311319.4"], "information_content": 100.0}
{"id": "MONDO:0011687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2F", "equivalent_identifiers": ["MONDO:0011687", "DOID:0110163", "OMIM:606595", "orphanet:99940", "UMLS:C1847823", "MESH:C535413", "SNOMEDCT:719510006", "medgen:335784"], "information_content": 100.0}
{"id": "UniProtKB:O60423-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid-transporting ATPase IK isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60423-2", "PR:O60423-2", "ENSEMBL:ENSP00000311336", "ENSEMBL:ENSP00000311336.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8IV35-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 337 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IV35-3", "PR:Q8IV35-3", "ENSEMBL:ENSP00000311343", "ENSEMBL:ENSP00000311343.3"], "information_content": 100.0}
{"id": "UniProtKB:P30154-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P30154-2", "PR:P30154-2", "ENSEMBL:ENSP00000311344", "ENSEMBL:ENSP00000311344.5"], "information_content": 100.0}
{"id": "NCBIGene:5883", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAD9A", "equivalent_identifiers": ["NCBIGene:5883", "ENSEMBL:ENSG00000172613", "HGNC:9827", "OMIM:603761", "UMLS:C1419245", "UniProtKB:Q99638", "PR:Q99638", "ENSEMBL:ENSP00000311360", "ENSEMBL:ENSP00000311360.2", "UMLS:C1448657"], "information_content": 95.4}
{"id": "NCBIGene:118430", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUCL1", "equivalent_identifiers": ["NCBIGene:118430", "ENSEMBL:ENSG00000172551", "HGNC:30588", "OMIM:610857", "UMLS:C1334347", "UniProtKB:Q96DR8", "PR:Q96DR8", "ENSEMBL:ENSP00000311364", "ENSEMBL:ENSP00000311364.5", "UMLS:C1335977", "MESH:C511061"], "information_content": 89.4}
{"id": "UniProtKB:O14972-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 26C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14972-1", "PR:O14972-1", "ENSEMBL:ENSP00000311399", "ENSEMBL:ENSP00000311399.6"], "information_content": 100.0}
{"id": "MONDO:0004925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic dacryocystitis", "equivalent_identifiers": ["MONDO:0004925", "DOID:9937", "UMLS:C0149506", "MEDDRA:10008854", "SNOMEDCT:84627005", "medgen:508388", "icd11.foundation:617640909", "ICD10:H04.41", "ICD9:375.42"], "information_content": 100.0}
{"id": "UniProtKB:O43306-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenylate cyclase type 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43306-1", "PR:O43306-1", "ENSEMBL:ENSP00000311405", "ENSEMBL:ENSP00000311405.4", "ENSEMBL:ENSP00000350536", "ENSEMBL:ENSP00000350536.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H900-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein zwilch homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H900-1", "PR:Q9H900-1", "ENSEMBL:ENSP00000311429", "ENSEMBL:ENSP00000311429.5"], "information_content": 100.0}
{"id": "NCBIGene:6124", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL4", "equivalent_identifiers": ["NCBIGene:6124", "ENSEMBL:ENSG00000174444", "HGNC:10353", "OMIM:180479", "UMLS:C1419676", "UniProtKB:P36578", "PR:P36578", "ENSEMBL:ENSP00000311430", "ENSEMBL:ENSP00000311430.6", "UMLS:C1506001"], "information_content": 84.8}
{"id": "NCBIGene:253982", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASPHD1", "equivalent_identifiers": ["NCBIGene:253982", "ENSEMBL:ENSG00000174939", "HGNC:27380", "UMLS:C1825090", "UniProtKB:Q5U4P2", "PR:Q5U4P2", "ENSEMBL:ENSP00000311447", "ENSEMBL:ENSP00000311447.5", "ENSEMBL:ENSP00000388036", "ENSEMBL:ENSP00000388036.2", "ENSEMBL:ENSP00000456801", "ENSEMBL:ENSP00000456801.1"], "information_content": 100.0}
{"id": "MONDO:0019675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia with joint laxity", "equivalent_identifiers": ["MONDO:0019675", "DOID:0112197", "OMIM.PS:271640", "UMLS:C0432243", "MESH:C562968", "SNOMEDCT:254100000", "medgen:98148"], "information_content": 90.9}
{"id": "UniProtKB:P20340-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-6A isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P20340-2", "PR:P20340-2", "ENSEMBL:ENSP00000311449", "ENSEMBL:ENSP00000311449.5"], "information_content": 100.0}
{"id": "UniProtKB:P09488-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione S-transferase mu 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P09488-1", "PR:P09488-1", "ENSEMBL:ENSP00000311469", "ENSEMBL:ENSP00000311469.5"], "information_content": 100.0}
{"id": "NCBIGene:282770", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10AG1", "equivalent_identifiers": ["NCBIGene:282770", "ENSEMBL:ENSG00000174970", "HGNC:19607", "UMLS:C1426274", "UniProtKB:A0A126GVM8", "UniProtKB:A0A2U3TZR9", "ENSEMBL:ENSP00000493281", "ENSEMBL:ENSP00000493281.2", "UniProtKB:Q8NH19", "PR:Q8NH19", "ENSEMBL:ENSP00000311477", "ENSEMBL:ENSP00000311477.2"], "information_content": 100.0}
{"id": "NCBIGene:144577", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KICS2", "equivalent_identifiers": ["NCBIGene:144577", "ENSEMBL:ENSG00000174206", "HGNC:26517", "OMIM:617420", "UMLS:C2681273", "UniProtKB:F5H2Q3", "ENSEMBL:ENSP00000445481", "ENSEMBL:ENSP00000445481.1", "UniProtKB:J3KNH0", "ENSEMBL:ENSP00000311486", "ENSEMBL:ENSP00000311486.8", "UniProtKB:Q96MD2", "PR:Q96MD2", "ENSEMBL:ENSP00000381132", "ENSEMBL:ENSP00000381132.4"]}
{"id": "NCBIGene:91464", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ISX", "equivalent_identifiers": ["NCBIGene:91464", "ENSEMBL:ENSG00000175329", "HGNC:28084", "OMIM:612019", "UMLS:C1825625", "UniProtKB:Q2M1V0", "PR:Q2M1V0", "ENSEMBL:ENSP00000311492", "ENSEMBL:ENSP00000311492.6", "ENSEMBL:ENSP00000386037", "ENSEMBL:ENSP00000386037.1", "UMLS:C3657794", "MESH:C579132"], "information_content": 100.0}
{"id": "NCBIGene:653784", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MZT2A", "equivalent_identifiers": ["NCBIGene:653784", "ENSEMBL:ENSG00000173272", "HGNC:33187", "OMIM:613449", "UMLS:C1825273", "UniProtKB:Q6P582", "PR:Q6P582", "ENSEMBL:ENSP00000311500", "ENSEMBL:ENSP00000311500.6", "UMLS:C3180046", "MESH:C556399"], "information_content": 95.4}
{"id": "MONDO:0011534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4G", "equivalent_identifiers": ["MONDO:0011534", "DOID:0110196", "OMIM:605285", "orphanet:99953", "UMLS:C1854449", "MESH:C535813", "SNOMEDCT:715799004", "medgen:343122", "icd11.foundation:995395080"], "information_content": 100.0}
{"id": "MONDO:0014906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;", "equivalent_identifiers": ["MONDO:0014906", "DOID:0111557", "OMIM:617087", "UMLS:C4310725", "NCIT:C150647", "medgen:934692"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULI3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein HEG homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULI3-1", "PR:Q9ULI3-1", "ENSEMBL:ENSP00000311502", "ENSEMBL:ENSP00000311502.3"], "information_content": 100.0}
{"id": "MONDO:0009757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Niemann-Pick disease, type C1", "equivalent_identifiers": ["MONDO:0009757", "DOID:0070113", "OMIM:257220", "UMLS:C0268245", "UMLS:C0268247", "UMLS:C1850363", "UMLS:C3179455", "MESH:C564941", "NCIT:C126864", "SNOMEDCT:18927009", "SNOMEDCT:67855008", "medgen:465922"], "information_content": 100.0}
{"id": "UniProtKB:Q15051-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IQ calmodulin-binding motif-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15051-1", "PR:Q15051-1", "ENSEMBL:ENSP00000311505", "ENSEMBL:ENSP00000311505.6"], "information_content": 100.0}
{"id": "UniProtKB:Q96T23-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "remodeling and spacing factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96T23-1", "PR:Q96T23-1", "ENSEMBL:ENSP00000311513", "ENSEMBL:ENSP00000311513.6"], "information_content": 100.0}
{"id": "NCBIGene:57474", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF490", "equivalent_identifiers": ["NCBIGene:57474", "ENSEMBL:ENSG00000188033", "HGNC:23705", "OMIM:620118", "UMLS:C1428207", "UniProtKB:Q9ULM2", "PR:Q9ULM2", "ENSEMBL:ENSP00000311521", "ENSEMBL:ENSP00000311521.6"], "information_content": 100.0}
{"id": "UniProtKB:Q16538-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable G-protein coupled receptor 162 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16538-1", "PR:Q16538-1", "ENSEMBL:ENSP00000311528", "ENSEMBL:ENSP00000311528.3"], "information_content": 100.0}
{"id": "UniProtKB:P36575-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arrestin-C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P36575-1", "PR:P36575-1", "ENSEMBL:ENSP00000311538", "ENSEMBL:ENSP00000311538.8"], "information_content": 100.0}
{"id": "UniProtKB:Q14246-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G protein-coupled receptor E1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14246-1", "PR:Q14246-1", "ENSEMBL:ENSP00000311545", "ENSEMBL:ENSP00000311545.3"], "information_content": 100.0}
{"id": "UniProtKB:O95271-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly [ADP-ribose] polymerase tankyrase-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95271-1", "PR:O95271-1", "ENSEMBL:ENSP00000311579", "ENSEMBL:ENSP00000311579.6", "ENSEMBL:ENSP00000493602", "ENSEMBL:ENSP00000493602.2"], "information_content": 100.0}
{"id": "NCBIGene:119765", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4B1", "equivalent_identifiers": ["NCBIGene:119765", "ENSEMBL:ENSG00000175619", "HGNC:8290", "UMLS:C1418061", "UniProtKB:A0A126GVH6", "UniProtKB:Q8NGF8", "PR:Q8NGF8", "ENSEMBL:ENSP00000311605", "ENSEMBL:ENSP00000311605.2"], "information_content": 95.4}
{"id": "NCBIGene:7368", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UGT8", "equivalent_identifiers": ["NCBIGene:7368", "ENSEMBL:ENSG00000174607", "HGNC:12555", "OMIM:601291", "UMLS:C1421347", "UniProtKB:Q16880", "PR:Q16880", "ENSEMBL:ENSP00000311648", "ENSEMBL:ENSP00000311648.6", "ENSEMBL:ENSP00000378019", "ENSEMBL:ENSP00000378019.3", "ENSEMBL:ENSP00000421446", "ENSEMBL:ENSP00000421446.2", "UMLS:C1570475", "MESH:C511211"], "information_content": 92.8}
{"id": "NCBIGene:196996", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRAMD2A", "equivalent_identifiers": ["NCBIGene:196996", "ENSEMBL:ENSG00000175318", "HGNC:27287", "OMIM:620181", "UMLS:C4320395", "UniProtKB:Q8IUY3", "PR:Q8IUY3", "ENSEMBL:ENSP00000311657", "ENSEMBL:ENSP00000311657.7", "UMLS:C5197422", "MESH:C000632290"], "information_content": 100.0}
{"id": "UniProtKB:Q12972-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear inhibitor of protein phosphatase 1 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q12972-1", "PR:Q12972-1", "ENSEMBL:ENSP00000311677", "ENSEMBL:ENSP00000311677.5"], "information_content": 100.0}
{"id": "UniProtKB:Q15772-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "striated muscle preferentially expressed protein kinase isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q15772-5", "PR:Q15772-5", "ENSEMBL:ENSP00000311684", "ENSEMBL:ENSP00000311684.7"], "information_content": 100.0}
{"id": "UniProtKB:Q0D2K0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "magnesium transporter NIPA4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q0D2K0-1", "PR:Q0D2K0-1", "ENSEMBL:ENSP00000311687", "ENSEMBL:ENSP00000311687.8"], "information_content": 100.0}
{"id": "MONDO:0011246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megaconial type congenital muscular dystrophy", "equivalent_identifiers": ["MONDO:0011246", "DOID:0110632", "OMIM:602541", "orphanet:280671", "UMLS:C1865233", "MESH:C566527", "SNOMEDCT:1230273004", "medgen:355943", "ICD10:G71.2"], "information_content": 100.0}
{"id": "MONDO:0003640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "verruciform xanthoma of skin", "equivalent_identifiers": ["MONDO:0003640", "DOID:5769", "UMLS:C0346054", "NCIT:C4478", "SNOMEDCT:254756007", "SNOMEDCT:66174008", "medgen:91076", "HP:0031517"], "information_content": 100.0}
{"id": "NCBIGene:11007", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC85B", "equivalent_identifiers": ["NCBIGene:11007", "ENSEMBL:ENSG00000175602", "HGNC:24926", "OMIM:605360", "UMLS:C1824611", "UniProtKB:Q15834", "PR:Q15834", "ENSEMBL:ENSP00000311695", "ENSEMBL:ENSP00000311695.2", "UMLS:C1438314", "MESH:C101409"], "information_content": 90.9}
{"id": "UniProtKB:P12034-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibroblast growth factor 5 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P12034-1", "PR:P12034-1", "ENSEMBL:ENSP00000311697", "ENSEMBL:ENSP00000311697.7"], "information_content": 100.0}
{"id": "NCBIGene:132112", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTP1", "equivalent_identifiers": ["NCBIGene:132112", "ENSEMBL:ENSG00000175077", "HGNC:28580", "OMIM:609137", "UMLS:C1826951", "UniProtKB:P59025", "PR:P59025", "ENSEMBL:ENSP00000311712", "ENSEMBL:ENSP00000311712.4", "ENSEMBL:ENSP00000517059", "ENSEMBL:ENSP00000517059.1", "UMLS:C1531243", "MESH:C495316"], "information_content": 95.4}
{"id": "NCBIGene:9943", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OXSR1", "equivalent_identifiers": ["NCBIGene:9943", "ENSEMBL:ENSG00000172939", "HGNC:8508", "OMIM:604046", "UMLS:C1540365", "UniProtKB:O95747", "PR:O95747", "ENSEMBL:ENSP00000311713", "ENSEMBL:ENSP00000311713.3", "UMLS:C0765196", "MESH:C118135"], "information_content": 92.8}
{"id": "NCBIGene:5655", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLK10", "equivalent_identifiers": ["NCBIGene:5655", "ENSEMBL:ENSG00000129451", "HGNC:6358", "OMIM:602673", "UMLS:C1416670", "UniProtKB:O43240", "PR:O43240", "ENSEMBL:ENSP00000311746", "ENSEMBL:ENSP00000311746.2", "ENSEMBL:ENSP00000351640", "ENSEMBL:ENSP00000351640.2", "ENSEMBL:ENSP00000375681", "ENSEMBL:ENSP00000375681.1", "UMLS:C1449006", "MESH:C100936", "UniProtKB:Q6ICR6"], "information_content": 92.8}
{"id": "UniProtKB:Q96PK6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 14 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PK6-1", "PR:Q96PK6-1", "ENSEMBL:ENSP00000311747", "ENSEMBL:ENSP00000311747.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6N2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetratricopeptide repeat protein 9B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6N2-1", "PR:Q8N6N2-1", "ENSEMBL:ENSP00000311760", "ENSEMBL:ENSP00000311760.6"], "information_content": 100.0}
{"id": "UniProtKB:Q13127-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RE1-silencing transcription factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13127-1", "PR:Q13127-1", "ENSEMBL:ENSP00000311816", "ENSEMBL:ENSP00000311816.7", "ENSEMBL:ENSP00000502313", "ENSEMBL:ENSP00000502313.1"], "information_content": 100.0}
{"id": "UniProtKB:P56545-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-terminal-binding protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P56545-2", "PR:P56545-2", "ENSEMBL:ENSP00000311825", "ENSEMBL:ENSP00000311825.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCI7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase MSL2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCI7-1", "PR:Q9HCI7-1", "ENSEMBL:ENSP00000311827", "ENSEMBL:ENSP00000311827.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TED4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glucose-6-phosphate exchanger SLC37A2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TED4-2", "PR:Q8TED4-2", "ENSEMBL:ENSP00000311833", "ENSEMBL:ENSP00000311833.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY99-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-2-syntrophin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY99-1", "PR:Q9NY99-1", "ENSEMBL:ENSP00000311837", "ENSEMBL:ENSP00000311837.5"], "information_content": 100.0}
{"id": "UniProtKB:P17706-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein phosphatase non-receptor type 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P17706-1", "PR:P17706-1", "ENSEMBL:ENSP00000311857", "ENSEMBL:ENSP00000311857.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N136-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein assembly factor with WD repeat domains 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N136-1", "PR:Q8N136-1", "ENSEMBL:ENSP00000311899", "ENSEMBL:ENSP00000311899.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N2S1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "latent-transforming growth factor beta-binding protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2S1-1", "PR:Q8N2S1-1", "ENSEMBL:ENSP00000311905", "ENSEMBL:ENSP00000311905.8"], "information_content": 100.0}
{"id": "NCBIGene:23062", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GGA2", "equivalent_identifiers": ["NCBIGene:23062", "ENSEMBL:ENSG00000103365", "HGNC:16064", "OMIM:606005", "UMLS:C1423948", "UniProtKB:Q9UJY4", "PR:Q9UJY4", "ENSEMBL:ENSP00000311962", "ENSEMBL:ENSP00000311962.4", "UMLS:C0913088", "MESH:C405944"], "information_content": 90.9}
{"id": "UniProtKB:Q96G46-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96G46-1", "PR:Q96G46-1", "ENSEMBL:ENSP00000311977", "ENSEMBL:ENSP00000311977.5"], "information_content": 100.0}
{"id": "MONDO:0012929", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Compton-North congenital myopathy", "equivalent_identifiers": ["MONDO:0012929", "DOID:0080101", "OMIM:612540", "orphanet:210163", "UMLS:C2675527", "MESH:C567261", "medgen:393406"], "information_content": 100.0}
{"id": "UniProtKB:Q8IW45-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IW45-2", "PR:Q8IW45-2", "ENSEMBL:ENSP00000311984", "ENSEMBL:ENSP00000311984.2"], "information_content": 100.0}
{"id": "MONDO:0033549", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 12", "equivalent_identifiers": ["MONDO:0033549", "DOID:0080840", "OMIM:618977", "UMLS:C5436534", "medgen:1720703"], "information_content": 100.0}
{"id": "MONDO:0014781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 29", "equivalent_identifiers": ["MONDO:0014781", "DOID:0111501", "OMIM:616811", "orphanet:478029", "UMLS:C5567607", "SNOMEDCT:1172843003", "medgen:1799030"], "information_content": 100.0}
{"id": "MONDO:0054741", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 34", "equivalent_identifiers": ["MONDO:0054741", "DOID:0111497", "OMIM:617872", "orphanet:457223", "UMLS:C4693450", "SNOMEDCT:1260133007", "medgen:1631307"], "information_content": 100.0}
{"id": "MONDO:0033569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 49", "equivalent_identifiers": ["MONDO:0033569", "DOID:0112110", "OMIM:619024", "UMLS:C5436616", "medgen:1762338"], "information_content": 100.0}
{"id": "UniProtKB:P12036-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurofilament heavy polypeptide isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P12036-1", "PR:P12036-1", "ENSEMBL:ENSP00000311997", "ENSEMBL:ENSP00000311997.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDQ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hepatitis A virus cellular receptor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDQ0-1", "PR:Q8TDQ0-1", "ENSEMBL:ENSP00000312002", "ENSEMBL:ENSP00000312002.4", "ENSEMBL:ENSP00000512960", "ENSEMBL:ENSP00000512960.1"], "information_content": 100.0}
{"id": "NCBIGene:924", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD7", "equivalent_identifiers": ["NCBIGene:924", "ENSEMBL:ENSG00000173762", "HGNC:1695", "OMIM:186820", "UMLS:C1413236", "UniProtKB:P09564", "PR:P09564", "ENSEMBL:ENSP00000312027", "ENSEMBL:ENSP00000312027.3", "UMLS:C4721551", "UniProtKB:Q29VG3"], "information_content": 95.4}
{"id": "UniProtKB:Q9UHB9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal recognition particle subunit SRP68 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHB9-1", "PR:Q9UHB9-1", "ENSEMBL:ENSP00000312066", "ENSEMBL:ENSP00000312066.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UN70-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-C3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UN70-1", "PR:Q9UN70-1", "ENSEMBL:ENSP00000312070", "ENSEMBL:ENSP00000312070.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NR97-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Toll-like receptor 8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR97-2", "PR:Q9NR97-2", "ENSEMBL:ENSP00000312082", "ENSEMBL:ENSP00000312082.5"], "information_content": 100.0}
{"id": "UniProtKB:P68543-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UBX domain-containing protein 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P68543-1", "PR:P68543-1", "ENSEMBL:ENSP00000312107", "ENSEMBL:ENSP00000312107.4", "ENSEMBL:ENSP00000385525", "ENSEMBL:ENSP00000385525.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFM4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenylate cyclase type 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFM4-1", "PR:Q8NFM4-1", "ENSEMBL:ENSP00000312126", "ENSEMBL:ENSP00000312126.4", "ENSEMBL:ENSP00000393177", "ENSEMBL:ENSP00000393177.2", "ENSEMBL:ENSP00000452250", "ENSEMBL:ENSP00000452250.2", "ENSEMBL:ENSP00000494454", "ENSEMBL:ENSP00000494454.1", "ENSEMBL:ENSP00000494977", "ENSEMBL:ENSP00000494977.1", "ENSEMBL:ENSP00000495316", "ENSEMBL:ENSP00000495316.1"], "information_content": 100.0}
{"id": "MONDO:0001015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophilic meningitis", "equivalent_identifiers": ["MONDO:0001015", "DOID:10361", "UMLS:C0154652", "MEDDRA:10014960", "MEDDRA:10027234", "NCIT:C128374", "SNOMEDCT:25671008", "medgen:509620", "ICD9:322.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDN1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated potassium channel regulatory subunit KCNG4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDN1-1", "PR:Q8TDN1-1", "ENSEMBL:ENSP00000312129", "ENSEMBL:ENSP00000312129.4"], "information_content": 100.0}
{"id": "UniProtKB:P13727-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bone marrow proteoglycan isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P13727-1", "PR:P13727-1", "ENSEMBL:ENSP00000312134", "ENSEMBL:ENSP00000312134.5", "ENSEMBL:ENSP00000433016", "ENSEMBL:ENSP00000433016.1"], "information_content": 100.0}
{"id": "MONDO:0000303", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conidiobolomycosis", "equivalent_identifiers": ["MONDO:0000303", "DOID:0050279", "UMLS:C0276712", "SNOMEDCT:240783007", "medgen:547510", "icd11.foundation:1326582778"], "information_content": 100.0}
{"id": "MONDO:0006118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast fibrosis", "equivalent_identifiers": ["MONDO:0006118", "DOID:10353", "EFO:1000145", "UMLS:C0156318", "MEDDRA:10006253", "MEDDRA:10016639", "MEDDRA:10016644", "NCIT:C3660", "SNOMEDCT:29070004", "medgen:57627", "ICD10:N60.3", "ICD9:610.3"], "information_content": 100.0}
{"id": "UniProtKB:Q68CZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tensin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68CZ2-1", "PR:Q68CZ2-1", "ENSEMBL:ENSP00000312143", "ENSEMBL:ENSP00000312143.9"], "information_content": 100.0}
{"id": "UniProtKB:Q96RU8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tribbles homolog 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RU8-1", "PR:Q96RU8-1", "ENSEMBL:ENSP00000312150", "ENSEMBL:ENSP00000312150.3"], "information_content": 100.0}
{"id": "UniProtKB:Q7KYR7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "butyrophilin subfamily 2 member A1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7KYR7-2", "PR:Q7KYR7-2", "ENSEMBL:ENSP00000312158", "ENSEMBL:ENSP00000312158.5", "ENSEMBL:ENSP00000517949", "ENSEMBL:ENSP00000517949.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92556-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "engulfment and cell motility protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92556-1", "PR:Q92556-1", "ENSEMBL:ENSP00000312185", "ENSEMBL:ENSP00000312185.4", "ENSEMBL:ENSP00000394458", "ENSEMBL:ENSP00000394458.1", "ENSEMBL:ENSP00000406952", "ENSEMBL:ENSP00000406952.1"], "information_content": 100.0}
{"id": "NCBIGene:112487", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DTD2", "equivalent_identifiers": ["NCBIGene:112487", "ENSEMBL:ENSG00000129480", "HGNC:20277", "UMLS:C1426831", "UniProtKB:Q96FN9", "PR:Q96FN9", "ENSEMBL:ENSP00000312224", "ENSEMBL:ENSP00000312224.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5Y2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MSL complex subunit 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5Y2-1", "PR:Q8N5Y2-1", "ENSEMBL:ENSP00000312244", "ENSEMBL:ENSP00000312244.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRR6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-dependent glucokinase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRR6-2", "PR:Q9BRR6-2", "ENSEMBL:ENSP00000312250", "ENSEMBL:ENSP00000312250.8"], "information_content": 100.0}
{"id": "NCBIGene:156", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRK2", "equivalent_identifiers": ["NCBIGene:156", "ENSEMBL:ENSG00000173020", "HGNC:289", "OMIM:109635", "UMLS:C1366490", "UniProtKB:A0A0S2Z392", "UniProtKB:P25098", "PR:P25098", "ENSEMBL:ENSP00000312262", "ENSEMBL:ENSP00000312262.5", "UMLS:C1505681", "MESH:C496567"], "information_content": 86.3}
{"id": "NCBIGene:388403", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YPEL2", "equivalent_identifiers": ["NCBIGene:388403", "ENSEMBL:ENSG00000175155", "HGNC:18326", "OMIM:609723", "UMLS:C1425450", "UniProtKB:Q96QA6", "PR:Q96QA6", "ENSEMBL:ENSP00000312272", "ENSEMBL:ENSP00000312272.4", "ENSEMBL:ENSP00000464285", "ENSEMBL:ENSP00000464285.1"], "information_content": 95.4}
{"id": "UniProtKB:Q8N135-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat LGI family member 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N135-1", "PR:Q8N135-1", "ENSEMBL:ENSP00000312273", "ENSEMBL:ENSP00000312273.3"], "information_content": 100.0}
{"id": "NCBIGene:246777", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPESP1", "equivalent_identifiers": ["NCBIGene:246777", "ENSEMBL:ENSG00000258484", "HGNC:15570", "OMIM:609399", "UMLS:C1423582", "UniProtKB:Q6UW49", "PR:Q6UW49", "ENSEMBL:ENSP00000312284", "ENSEMBL:ENSP00000312284.3", "UMLS:C1451194", "MESH:C484958"], "information_content": 95.4}
{"id": "DOID:2301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrophy of prostate", "equivalent_identifiers": ["DOID:2301", "UMLS:C0156296", "MEDDRA:10003709", "MEDDRA:10036941", "SNOMEDCT:29524003", "ICD9:602.2"]}
{"id": "NCBIGene:5319", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLA2G1B", "equivalent_identifiers": ["NCBIGene:5319", "ENSEMBL:ENSG00000170890", "HGNC:9030", "OMIM:172410", "UMLS:C1418617", "UniProtKB:P04054", "PR:P04054", "ENSEMBL:ENSP00000312286", "ENSEMBL:ENSP00000312286.4", "UMLS:C1871414", "UMLS:C3539768", "MESH:C516202"], "information_content": 84.2}
{"id": "UniProtKB:Q13875-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myelin-associated oligodendrocyte basic protein isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q13875-4", "PR:Q13875-4", "ENSEMBL:ENSP00000312293", "ENSEMBL:ENSP00000312293.6"], "information_content": 100.0}
{"id": "NCBIGene:100288801", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FRG2C", "equivalent_identifiers": ["NCBIGene:100288801", "ENSEMBL:ENSG00000172969", "HGNC:33626", "UMLS:C2239462", "UniProtKB:A6NGY1", "PR:A6NGY1", "ENSEMBL:ENSP00000312299", "ENSEMBL:ENSP00000312299.3", "UniProtKB:C9JUX3", "ENSEMBL:ENSP00000419432", "ENSEMBL:ENSP00000419432.1"], "information_content": 100.0}
{"id": "MONDO:0100251", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome", "equivalent_identifiers": ["MONDO:0100251", "DOID:0111063", "orphanet:306661", "UMLS:C1876187", "MESH:C566870", "NCIT:C131851", "SNOMEDCT:860796007", "medgen:360297", "ICD10:M11.2"], "information_content": 100.0}
{"id": "NCBIGene:7172", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPMT", "equivalent_identifiers": ["NCBIGene:7172", "ENSEMBL:ENSG00000137364", "HGNC:12014", "OMIM:187680", "UMLS:C1336663", "UniProtKB:P51580", "PR:P51580", "ENSEMBL:ENSP00000312304", "ENSEMBL:ENSP00000312304.4", "UMLS:C4742656", "MESH:C000628225"], "information_content": 84.2}
{"id": "NCBIGene:26589", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL46", "equivalent_identifiers": ["NCBIGene:26589", "ENSEMBL:ENSG00000259494", "HGNC:1192", "OMIM:611851", "UMLS:C1412889", "UniProtKB:Q9H2W6", "PR:Q9H2W6", "ENSEMBL:ENSP00000312311", "ENSEMBL:ENSP00000312311.4", "UMLS:C1122214", "MESH:C453839"], "information_content": 100.0}
{"id": "NCBIGene:10534", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNRD2", "equivalent_identifiers": ["NCBIGene:10534", "ENSEMBL:ENSG00000173465", "HGNC:11328", "OMIM:606044", "UMLS:C1420433", "UniProtKB:G3V1B8", "ENSEMBL:ENSP00000434381", "ENSEMBL:ENSP00000434381.1", "UniProtKB:O60232", "PR:O60232", "ENSEMBL:ENSP00000312318", "ENSEMBL:ENSP00000312318.3"], "information_content": 95.4}
{"id": "UniProtKB:Q16853-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amine oxidase [copper-containing] 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16853-1", "PR:Q16853-1", "ENSEMBL:ENSP00000312326", "ENSEMBL:ENSP00000312326.1"], "information_content": 100.0}
{"id": "NCBIGene:54931", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRMT10C", "equivalent_identifiers": ["NCBIGene:54931", "ENSEMBL:ENSG00000174173", "HGNC:26022", "OMIM:615423", "UMLS:C1428545", "UniProtKB:Q7L0Y3", "PR:Q7L0Y3", "ENSEMBL:ENSP00000312356", "ENSEMBL:ENSP00000312356.6"], "information_content": 90.9}
{"id": "UniProtKB:Q9UIB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SLAM family member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIB8-1", "PR:Q9UIB8-1", "ENSEMBL:ENSP00000312367", "ENSEMBL:ENSP00000312367.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9S9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-31 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9S9-1", "PR:Q8N9S9-1", "ENSEMBL:ENSP00000312368", "ENSEMBL:ENSP00000312368.2"], "information_content": 100.0}
{"id": "MONDO:0012250", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4H", "equivalent_identifiers": ["MONDO:0012250", "DOID:0110192", "OMIM:609311", "orphanet:99954", "UMLS:C1836336", "MESH:C563740", "SNOMEDCT:715802008", "medgen:324487", "icd11.foundation:214411126"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZD2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive histone-lysine N-methyltransferase 2E isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZD2-1", "PR:Q8IZD2-1", "ENSEMBL:ENSP00000312379", "ENSEMBL:ENSP00000312379.3"], "information_content": 100.0}
{"id": "NCBIGene:344191", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EVX2", "equivalent_identifiers": ["NCBIGene:344191", "ENSEMBL:ENSG00000174279", "HGNC:3507", "OMIM:142991", "UMLS:C1414486", "UniProtKB:Q03828", "PR:Q03828", "ENSEMBL:ENSP00000312385", "ENSEMBL:ENSP00000312385.4", "UMLS:C1450652", "MESH:C484090"], "information_content": 100.0}
{"id": "UniProtKB:Q9UH77-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 3 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9UH77-1", "PR:Q9UH77-1", "ENSEMBL:ENSP00000312397", "ENSEMBL:ENSP00000312397.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8NA47-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 63 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NA47-1", "PR:Q8NA47-1", "ENSEMBL:ENSP00000312399", "ENSEMBL:ENSP00000312399.5"], "information_content": 100.0}
{"id": "NCBIGene:134083", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2Y1", "equivalent_identifiers": ["NCBIGene:134083", "ENSEMBL:ENSG00000174339", "HGNC:14837", "UMLS:C1422982", "UniProtKB:Q8NGV0", "PR:Q8NGV0", "ENSEMBL:ENSP00000312403", "ENSEMBL:ENSP00000312403.2"], "information_content": 95.4}
{"id": "UniProtKB:Q8WY54-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1E isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WY54-2", "PR:Q8WY54-2", "ENSEMBL:ENSP00000312411", "ENSEMBL:ENSP00000312411.2"], "information_content": 100.0}
{"id": "UniProtKB:O60225-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SSX5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60225-2", "PR:O60225-2", "ENSEMBL:ENSP00000312415", "ENSEMBL:ENSP00000312415.1"], "information_content": 100.0}
{"id": "MONDO:0032831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia, type 13", "equivalent_identifiers": ["MONDO:0032831", "DOID:0112332", "OMIM:618606", "orphanet:613267", "EFO:0010636", "UMLS:C5231425", "medgen:1684708"], "information_content": 100.0}
{"id": "NCBIGene:79102", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF26", "equivalent_identifiers": ["NCBIGene:79102", "ENSEMBL:ENSG00000173456", "HGNC:14646", "OMIM:606130", "UMLS:C1422811", "UniProtKB:Q9BY78", "PR:Q9BY78", "ENSEMBL:ENSP00000312439", "ENSEMBL:ENSP00000312439.4", "UMLS:C1309924", "MESH:C427485"], "information_content": 100.0}
{"id": "NCBIGene:8906", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AP1G2", "equivalent_identifiers": ["NCBIGene:8906", "ENSEMBL:ENSG00000213983", "HGNC:556", "OMIM:603534", "UMLS:C1412436", "UniProtKB:O75843", "PR:O75843", "ENSEMBL:ENSP00000312442", "ENSEMBL:ENSP00000312442.5", "ENSEMBL:ENSP00000380309", "ENSEMBL:ENSP00000380309.3", "UniProtKB:Q86U03", "UniProtKB:Q86V28"], "information_content": 89.4}
{"id": "UniProtKB:O15519-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CASP8 and FADD-like apoptosis regulator isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15519-1", "PR:O15519-1", "ENSEMBL:ENSP00000312455", "ENSEMBL:ENSP00000312455.2", "ENSEMBL:ENSP00000399420", "ENSEMBL:ENSP00000399420.2"], "information_content": 95.4}
{"id": "UniProtKB:Q8WXS3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "brain and acute leukemia cytoplasmic protein isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXS3-2", "PR:Q8WXS3-2", "ENSEMBL:ENSP00000312457", "ENSEMBL:ENSP00000312457.5"], "information_content": 100.0}
{"id": "NCBIGene:64801", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARV1", "equivalent_identifiers": ["NCBIGene:64801", "ENSEMBL:ENSG00000173409", "HGNC:29561", "OMIM:611647", "UMLS:C1540200", "UniProtKB:Q9H2C2", "PR:Q9H2C2", "ENSEMBL:ENSP00000312458", "ENSEMBL:ENSP00000312458.2", "UMLS:C2976014", "MESH:C553399"], "information_content": 92.8}
{"id": "NCBIGene:1464", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSPG4", "equivalent_identifiers": ["NCBIGene:1464", "ENSEMBL:ENSG00000173546", "HGNC:2466", "OMIM:601172", "UMLS:C1332797", "UniProtKB:Q6UVK1", "PR:Q6UVK1", "ENSEMBL:ENSP00000312506", "ENSEMBL:ENSP00000312506.5", "UMLS:C1620108", "MESH:C101390"], "information_content": 84.8}
{"id": "NCBIGene:78999", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRFN4", "equivalent_identifiers": ["NCBIGene:78999", "ENSEMBL:ENSG00000173621", "HGNC:28456", "OMIM:612810", "UMLS:C1428712", "UniProtKB:Q6PJG9", "PR:Q6PJG9", "ENSEMBL:ENSP00000312535", "ENSEMBL:ENSP00000312535.4", "UMLS:C3252163", "MESH:C561460"], "information_content": 95.4}
{"id": "UniProtKB:Q6ZR08-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal heavy chain 12 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZR08-4", "PR:Q6ZR08-4", "ENSEMBL:ENSP00000312554", "ENSEMBL:ENSP00000312554.6"], "information_content": 100.0}
{"id": "UniProtKB:Q96MF6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coenzyme Q-binding protein COQ10 homolog A, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MF6-1", "PR:Q96MF6-1", "ENSEMBL:ENSP00000312587", "ENSEMBL:ENSP00000312587.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 70, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUB7-1", "PR:Q9BUB7-1", "ENSEMBL:ENSP00000312599", "ENSEMBL:ENSP00000312599.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6X4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 134 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6X4-1", "PR:Q9H6X4-1", "ENSEMBL:ENSP00000312615", "ENSEMBL:ENSP00000312615.2"], "information_content": 100.0}
{"id": "MONDO:0001036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypopyon", "equivalent_identifiers": ["MONDO:0001036", "DOID:10443", "UMLS:C0020641", "MEDDRA:10021086", "NCIT:C50593", "SNOMEDCT:87807004", "medgen:43802", "icd11.foundation:803985395", "ICD10:H20.05", "ICD9:364.05", "HP:0031615"], "information_content": 95.4}
{"id": "UniProtKB:Q13952-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear transcription factor Y subunit gamma isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q13952-1", "PR:Q13952-1", "ENSEMBL:ENSP00000312617", "ENSEMBL:ENSP00000312617.5"], "information_content": 100.0}
{"id": "MONDO:0005729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dicrocoeliasis", "equivalent_identifiers": ["MONDO:0005729", "DOID:1219", "EFO:0007234", "UMLS:C0012102", "UMLS:C1737210", "MESH:D004011", "MEDDRA:10080485", "SNOMEDCT:105668007", "SNOMEDCT:8410006", "medgen:3813", "icd11.foundation:1114361195", "ICD10:B66.2"], "information_content": 100.0}
{"id": "NCBIGene:28976", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACAD9", "equivalent_identifiers": ["NCBIGene:28976", "ENSEMBL:ENSG00000177646", "HGNC:21497", "OMIM:611103", "UMLS:C1427586", "UniProtKB:Q9H845", "PR:Q9H845", "ENSEMBL:ENSP00000312618", "ENSEMBL:ENSP00000312618.7", "ENSEMBL:ENSP00000506340", "ENSEMBL:ENSP00000506340.1", "UMLS:C2934081", "MESH:C549517", "UniProtKB:Q9H9W4", "ENSEMBL:ENSP00000506228", "ENSEMBL:ENSP00000506228.1"], "information_content": 90.9}
{"id": "NCBIGene:8557", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCAP", "equivalent_identifiers": ["NCBIGene:8557", "ENSEMBL:ENSG00000173991", "HGNC:11610", "OMIM:604488", "UMLS:C1420621", "UniProtKB:A2TDC0", "UMLS:C3711772", "MESH:C577292", "UniProtKB:O15273", "PR:O15273", "ENSEMBL:ENSP00000312624", "ENSEMBL:ENSP00000312624.2"], "information_content": 95.4}
{"id": "NCBIGene:3642", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INSM1", "equivalent_identifiers": ["NCBIGene:3642", "ENSEMBL:ENSG00000173404", "HGNC:6090", "OMIM:600010", "UMLS:C1416457", "UniProtKB:Q01101", "PR:Q01101", "ENSEMBL:ENSP00000312631", "ENSEMBL:ENSP00000312631.1", "UMLS:C1430028", "MESH:C087342"], "information_content": 100.0}
{"id": "MONDO:0006787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hidrocystoma", "equivalent_identifiers": ["MONDO:0006787", "DOID:3893", "EFO:1000967", "UMLS:C0206672", "UMLS:C1704334", "UMLS:C1704335", "MESH:D018251", "MEDDRA:10059019", "NCIT:C205459", "NCIT:C3760", "NCIT:C7565", "SNOMEDCT:1296894004", "SNOMEDCT:254716005", "SNOMEDCT:254725004", "SNOMEDCT:80549000", "medgen:61656", "icd11.foundation:2040265542"], "information_content": 92.8}
{"id": "UniProtKB:Q96JY6-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PDZ and LIM domain protein 2 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q96JY6-5", "PR:Q96JY6-5", "ENSEMBL:ENSP00000312634", "ENSEMBL:ENSP00000312634.7", "ENSEMBL:ENSP00000342035", "ENSEMBL:ENSP00000342035.8"], "information_content": 100.0}
{"id": "UniProtKB:Q86YN6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YN6-1", "PR:Q86YN6-1", "ENSEMBL:ENSP00000312649", "ENSEMBL:ENSP00000312649.5"], "information_content": 100.0}
{"id": "NCBIGene:3952", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LEP", "equivalent_identifiers": ["NCBIGene:3952", "ENSEMBL:ENSG00000174697", "HGNC:6553", "OMIM:164160", "UMLS:C1416825", "UniProtKB:A4D0Y8", "UniProtKB:P41159", "PR:P41159", "ENSEMBL:ENSP00000312652", "ENSEMBL:ENSP00000312652.4", "UMLS:C4742979", "MESH:C000629008"], "information_content": 89.4}
{"id": "NCBIGene:55584", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHRNA9", "equivalent_identifiers": ["NCBIGene:55584", "ENSEMBL:ENSG00000174343", "HGNC:14079", "OMIM:605116", "UMLS:C1422395", "UniProtKB:Q9UGM1", "PR:Q9UGM1", "ENSEMBL:ENSP00000312663", "ENSEMBL:ENSP00000312663.2", "UMLS:C1454184", "MESH:C498540"], "information_content": 92.8}
{"id": "UniProtKB:P42575-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P42575-1", "PR:P42575-1", "ENSEMBL:ENSP00000312664", "ENSEMBL:ENSP00000312664.5"], "information_content": 90.9}
{"id": "NCBIGene:254102", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EHBP1L1", "equivalent_identifiers": ["NCBIGene:254102", "ENSEMBL:ENSG00000173442", "HGNC:30682", "OMIM:619583", "UMLS:C1539337", "UniProtKB:Q8N3D4", "PR:Q8N3D4", "ENSEMBL:ENSP00000312671", "ENSEMBL:ENSP00000312671.4", "UMLS:C4276815", "MESH:C000608234"], "information_content": 89.4}
{"id": "UniProtKB:Q6ZRR5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TLC domain-containing protein 5 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZRR5-3", "PR:Q6ZRR5-3", "ENSEMBL:ENSP00000312672", "ENSEMBL:ENSP00000312672.2"], "information_content": 100.0}
{"id": "UniProtKB:P01241-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "somatotropin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P01241-1", "PR:P01241-1", "ENSEMBL:ENSP00000312673", "ENSEMBL:ENSP00000312673.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMU5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 72 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMU5-1", "PR:Q6ZMU5-1", "ENSEMBL:ENSP00000312675", "ENSEMBL:ENSP00000312675.3"], "information_content": 100.0}
{"id": "NCBIGene:374907", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B3GNT8", "equivalent_identifiers": ["NCBIGene:374907", "ENSEMBL:ENSG00000177191", "HGNC:24139", "OMIM:615357", "UMLS:C1825857", "UniProtKB:Q7Z7M8", "PR:Q7Z7M8", "ENSEMBL:ENSP00000312700", "ENSEMBL:ENSP00000312700.1", "ENSEMBL:ENSP00000510371", "ENSEMBL:ENSP00000510371.1", "UMLS:C1565697", "MESH:C496333"], "information_content": 100.0}
{"id": "NCBIGene:245928", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFB114", "equivalent_identifiers": ["NCBIGene:245928", "ENSEMBL:ENSG00000177684", "HGNC:18095", "OMIM:615243", "UMLS:C1425303", "UniProtKB:Q30KQ6", "PR:Q30KQ6", "ENSEMBL:ENSP00000312702", "ENSEMBL:ENSP00000312702.3"], "information_content": 100.0}
{"id": "MONDO:0001172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "salpingo-oophoritis", "equivalent_identifiers": ["MONDO:0001172", "DOID:10972", "UMLS:C0036133", "MEDDRA:10049677", "NCIT:C171201", "SNOMEDCT:46536000", "medgen:508106", "ICD10:N70", "ICD9:614.2"], "information_content": 92.8}
{"id": "UniProtKB:Q8IXS2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein regulatory complex subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXS2-1", "PR:Q8IXS2-1", "ENSEMBL:ENSP00000312706", "ENSEMBL:ENSP00000312706.4"], "information_content": 100.0}
{"id": "NCBIGene:6879", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAF7", "equivalent_identifiers": ["NCBIGene:6879", "ENSEMBL:ENSG00000178913", "HGNC:11541", "OMIM:600573", "UMLS:C1336571", "UniProtKB:Q15545", "PR:Q15545", "ENSEMBL:ENSP00000312709", "ENSEMBL:ENSP00000312709.5", "ENSEMBL:ENSP00000485510", "ENSEMBL:ENSP00000485510.2", "UMLS:C0528246", "MESH:C091537"], "information_content": 92.8}
{"id": "NCBIGene:51762", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB8B", "equivalent_identifiers": ["NCBIGene:51762", "ENSEMBL:ENSG00000166128", "HGNC:30273", "OMIM:613532", "UMLS:C1428953", "UniProtKB:Q92930", "PR:Q92930", "ENSEMBL:ENSP00000312734", "ENSEMBL:ENSP00000312734.4"], "information_content": 92.8}
{"id": "MONDO:0010986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 9", "equivalent_identifiers": ["MONDO:0010986", "DOID:0110535", "OMIM:601071", "UMLS:C1832828", "UMLS:C1832830", "MESH:C563396", "MESH:C563398", "medgen:331376"], "information_content": 100.0}
{"id": "UniProtKB:Q96RR4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium/calmodulin-dependent protein kinase kinase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RR4-1", "PR:Q96RR4-1", "ENSEMBL:ENSP00000312741", "ENSEMBL:ENSP00000312741.5", "ENSEMBL:ENSP00000384591", "ENSEMBL:ENSP00000384591.4", "ENSEMBL:ENSP00000384600", "ENSEMBL:ENSP00000384600.3", "ENSEMBL:ENSP00000498824", "ENSEMBL:ENSP00000498824.1"], "information_content": 100.0}
{"id": "NCBIGene:150368", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHETA2", "equivalent_identifiers": ["NCBIGene:150368", "ENSEMBL:ENSG00000177096", "HGNC:27161", "OMIM:614240", "UMLS:C1825240", "UniProtKB:Q6ICB4", "PR:Q6ICB4", "ENSEMBL:ENSP00000312753", "ENSEMBL:ENSP00000312753.3", "UMLS:C2932937", "MESH:C548333"], "information_content": 92.8}
{"id": "NCBIGene:100653515", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEP295NL", "equivalent_identifiers": ["NCBIGene:100653515", "ENSEMBL:ENSG00000178404", "HGNC:44659", "UMLS:C3890130", "UniProtKB:Q96MC4", "PR:Q96MC4", "ENSEMBL:ENSP00000312767", "ENSEMBL:ENSP00000312767.2"], "information_content": 100.0}
{"id": "NCBIGene:205327", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C2orf69", "equivalent_identifiers": ["NCBIGene:205327", "ENSEMBL:ENSG00000178074", "HGNC:26799", "OMIM:619219", "UMLS:C2681195", "UniProtKB:Q8N8R5", "PR:Q8N8R5", "ENSEMBL:ENSP00000312770", "ENSEMBL:ENSP00000312770.5"], "information_content": 100.0}
{"id": "NCBIGene:171169", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPACA4", "equivalent_identifiers": ["NCBIGene:171169", "ENSEMBL:ENSG00000177202", "HGNC:16441", "OMIM:609932", "UMLS:C1424282", "UniProtKB:A0A140VJU1", "UMLS:C1311494", "MESH:C477160", "UniProtKB:Q8TDM5", "PR:Q8TDM5", "ENSEMBL:ENSP00000312774", "ENSEMBL:ENSP00000312774.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2H3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 80 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2H3-1", "PR:Q9P2H3-1", "ENSEMBL:ENSP00000312778", "ENSEMBL:ENSP00000312778.7"], "information_content": 100.0}
{"id": "UniProtKB:P57789-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium channel subfamily K member 10 isoform C (human)", "equivalent_identifiers": ["UniProtKB:P57789-3", "PR:P57789-3", "ENSEMBL:ENSP00000312811", "ENSEMBL:ENSP00000312811.5"], "information_content": 100.0}
{"id": "MONDO:0007416", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Balkan nephropathy", "equivalent_identifiers": ["MONDO:0007416", "DOID:3052", "OMIM:124100", "EFO:0007164", "UMLS:C0004698", "UMLS:C4049993", "MESH:D001449", "MEDDRA:10086674", "NCIT:C123025", "SNOMEDCT:26121002", "SNOMEDCT:717770008", "medgen:495", "icd11.foundation:18497836", "ICD10:N15.0"], "information_content": 100.0}
{"id": "NCBIGene:23510", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCTD2", "equivalent_identifiers": ["NCBIGene:23510", "ENSEMBL:ENSG00000180901", "HGNC:21294", "OMIM:613422", "UMLS:C1427474", "UniProtKB:Q14681", "PR:Q14681", "ENSEMBL:ENSP00000312814", "ENSEMBL:ENSP00000312814.6", "UniProtKB:Q8IYY2"], "information_content": 95.4}
{"id": "UniProtKB:Q9HAP2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MLX-interacting protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAP2-1", "PR:Q9HAP2-1", "ENSEMBL:ENSP00000312834", "ENSEMBL:ENSP00000312834.6", "ENSEMBL:ENSP00000486569", "ENSEMBL:ENSP00000486569.2", "ENSEMBL:ENSP00000487003", "ENSEMBL:ENSP00000487003.1"], "information_content": 100.0}
{"id": "UniProtKB:Q53EL9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "seizure protein 6 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53EL9-1", "PR:Q53EL9-1", "ENSEMBL:ENSP00000312942", "ENSEMBL:ENSP00000312942.11"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stabilin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY15-1", "PR:Q9NY15-1", "ENSEMBL:ENSP00000312946", "ENSEMBL:ENSP00000312946.6"], "information_content": 100.0}
{"id": "UniProtKB:Q53GS9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 39 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53GS9-1", "PR:Q53GS9-1", "ENSEMBL:ENSP00000312981", "ENSEMBL:ENSP00000312981.6", "ENSEMBL:ENSP00000386864", "ENSEMBL:ENSP00000386864.1"], "information_content": 100.0}
{"id": "MONDO:0013940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 18", "equivalent_identifiers": ["MONDO:0013940", "DOID:0110604", "OMIM:614874", "UMLS:C3543825", "medgen:762331"], "information_content": 100.0}
{"id": "UniProtKB:P41235-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hepatocyte nuclear factor 4-alpha isoform HNF4-Alpha-1 (human)", "equivalent_identifiers": ["UniProtKB:P41235-1", "PR:P41235-1", "ENSEMBL:ENSP00000312987", "ENSEMBL:ENSP00000312987.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15653-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NF-kappa-B inhibitor beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15653-1", "PR:Q15653-1", "ENSEMBL:ENSP00000312988", "ENSEMBL:ENSP00000312988.5", "ENSEMBL:ENSP00000489138", "ENSEMBL:ENSP00000489138.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAW4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "claspin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAW4-1", "PR:Q9HAW4-1", "ENSEMBL:ENSP00000312995", "ENSEMBL:ENSP00000312995.3"], "information_content": 100.0}
{"id": "UniProtKB:P04899-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein G(i) subunit alpha-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P04899-1", "PR:P04899-1", "ENSEMBL:ENSP00000312999", "ENSEMBL:ENSP00000312999.6"], "information_content": 100.0}
{"id": "UniProtKB:P11940-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyadenylate-binding protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P11940-1", "PR:P11940-1", "ENSEMBL:ENSP00000313007", "ENSEMBL:ENSP00000313007.5", "ENSEMBL:ENSP00000428749", "ENSEMBL:ENSP00000428749.2", "ENSEMBL:ENSP00000428840", "ENSEMBL:ENSP00000428840.2", "ENSEMBL:ENSP00000429119", "ENSEMBL:ENSP00000429119.2", "ENSEMBL:ENSP00000429790", "ENSEMBL:ENSP00000429790.2", "ENSEMBL:ENSP00000429892", "ENSEMBL:ENSP00000429892.2", "ENSEMBL:ENSP00000430012", "ENSEMBL:ENSP00000430012.2"], "information_content": 100.0}
{"id": "UniProtKB:Q969U6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/WD repeat-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969U6-1", "PR:Q969U6-1", "ENSEMBL:ENSP00000313034", "ENSEMBL:ENSP00000313034.3"], "information_content": 100.0}
{"id": "UniProtKB:O75323-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein NipSnap homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75323-1", "PR:O75323-1", "ENSEMBL:ENSP00000313050", "ENSEMBL:ENSP00000313050.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDF5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuropilin and tolloid-like protein 1 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDF5-3", "PR:Q8TDF5-3", "ENSEMBL:ENSP00000313088", "ENSEMBL:ENSP00000313088.6", "ENSEMBL:ENSP00000464312", "ENSEMBL:ENSP00000464312.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5W7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5W7-1", "PR:Q9Y5W7-1", "ENSEMBL:ENSP00000313121", "ENSEMBL:ENSP00000313121.3"], "information_content": 100.0}
{"id": "MONDO:0014437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 9", "equivalent_identifiers": ["MONDO:0014437", "DOID:0110131", "OMIM:615986", "EFO:0009027", "UMLS:C1859567", "MESH:C565918", "medgen:347182"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVH0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exonuclease 3'-5' domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVH0-1", "PR:Q9NVH0-1", "ENSEMBL:ENSP00000313140", "ENSEMBL:ENSP00000313140.5", "ENSEMBL:ENSP00000387331", "ENSEMBL:ENSP00000387331.3", "ENSEMBL:ENSP00000510642", "ENSEMBL:ENSP00000510642.1"], "information_content": 100.0}
{"id": "UniProtKB:O15259-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nephrocystin-1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O15259-4", "PR:O15259-4", "ENSEMBL:ENSP00000313169", "ENSEMBL:ENSP00000313169.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96QE3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATPase family AAA domain-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QE3-1", "PR:Q96QE3-1", "ENSEMBL:ENSP00000313171", "ENSEMBL:ENSP00000313171.4"], "information_content": 100.0}
{"id": "NCBIGene:11149", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POPDC1", "equivalent_identifiers": ["NCBIGene:11149", "ENSEMBL:ENSG00000112276", "HGNC:1152", "OMIM:604577", "UMLS:C1412856", "UniProtKB:Q8NE79", "PR:Q8NE79", "ENSEMBL:ENSP00000313172", "ENSEMBL:ENSP00000313172.5", "ENSEMBL:ENSP00000337259", "ENSEMBL:ENSP00000337259.5", "ENSEMBL:ENSP00000397310", "ENSEMBL:ENSP00000397310.2", "UMLS:C2603590", "MESH:C530749"], "information_content": 100.0}
{"id": "UniProtKB:Q14103-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein D0 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14103-1", "PR:Q14103-1", "ENSEMBL:ENSP00000313199", "ENSEMBL:ENSP00000313199.7", "ENSEMBL:ENSP00000421952", "ENSEMBL:ENSP00000421952.2"], "information_content": 100.0}
{"id": "NCBIGene:404217", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTXN1", "equivalent_identifiers": ["NCBIGene:404217", "ENSEMBL:ENSG00000178531", "HGNC:31108", "OMIM:600135", "UMLS:C1429080", "UniProtKB:P60606", "PR:P60606", "ENSEMBL:ENSP00000313226", "ENSEMBL:ENSP00000313226.3"], "information_content": 95.4}
{"id": "UniProtKB:Q4G112-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heat shock factor protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4G112-1", "PR:Q4G112-1", "ENSEMBL:ENSP00000313243", "ENSEMBL:ENSP00000313243.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BT04-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein fuzzy homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BT04-1", "PR:Q9BT04-1", "ENSEMBL:ENSP00000313309", "ENSEMBL:ENSP00000313309.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96A29-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GDP-fucose transporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96A29-1", "PR:Q96A29-1", "ENSEMBL:ENSP00000313318", "ENSEMBL:ENSP00000313318.3"], "information_content": 100.0}
{"id": "NCBIGene:246243", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNASEH1", "equivalent_identifiers": ["NCBIGene:246243", "ENSEMBL:ENSG00000171865", "HGNC:18466", "OMIM:604123", "UMLS:C1425532", "UniProtKB:B3KUD4", "UMLS:C1312354", "UniProtKB:E5KN15", "UniProtKB:O60930", "PR:O60930", "ENSEMBL:ENSP00000313350", "ENSEMBL:ENSP00000313350.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZ23-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pantothenate kinase 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZ23-1", "PR:Q9BZ23-1", "ENSEMBL:ENSP00000313377", "ENSEMBL:ENSP00000313377.4"], "information_content": 100.0}
{"id": "NCBIGene:8387", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR1E1", "equivalent_identifiers": ["NCBIGene:8387", "ENSEMBL:ENSG00000180016", "HGNC:8189", "UMLS:C1417992", "UniProtKB:P30953", "PR:P30953", "ENSEMBL:ENSP00000313384", "ENSEMBL:ENSP00000313384.2"], "information_content": 100.0}
{"id": "UniProtKB:P98082-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disabled homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P98082-1", "PR:P98082-1", "ENSEMBL:ENSP00000313391", "ENSEMBL:ENSP00000313391.6"], "information_content": 100.0}
{"id": "UniProtKB:P15391-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-lymphocyte antigen CD19 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P15391-2", "PR:P15391-2", "ENSEMBL:ENSP00000313419", "ENSEMBL:ENSP00000313419.4"], "information_content": 100.0}
{"id": "UniProtKB:P78527-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-dependent protein kinase catalytic subunit isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78527-1", "PR:P78527-1", "ENSEMBL:ENSP00000313420", "ENSEMBL:ENSP00000313420.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZZ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GDNF family receptor alpha-4 isoform hGFRalpha4b (human)", "equivalent_identifiers": ["UniProtKB:Q9GZZ7-1", "PR:Q9GZZ7-1", "ENSEMBL:ENSP00000313423", "ENSEMBL:ENSP00000313423.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBQ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glyoxylate reductase/hydroxypyruvate reductase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBQ7-1", "PR:Q9UBQ7-1", "ENSEMBL:ENSP00000313432", "ENSEMBL:ENSP00000313432.6"], "information_content": 100.0}
{"id": "UniProtKB:Q99542-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "matrix metalloproteinase-19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99542-1", "PR:Q99542-1", "ENSEMBL:ENSP00000313437", "ENSEMBL:ENSP00000313437.4"], "information_content": 100.0}
{"id": "UniProtKB:A0AVT1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-like modifier-activating enzyme 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A0AVT1-1", "PR:A0AVT1-1", "ENSEMBL:ENSP00000313454", "ENSEMBL:ENSP00000313454.4"], "information_content": 100.0}
{"id": "NCBIGene:5198", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PFAS", "equivalent_identifiers": ["NCBIGene:5198", "ENSEMBL:ENSG00000178921", "HGNC:8863", "OMIM:602133", "UMLS:C1418481", "UniProtKB:A8K8N7", "UniProtKB:A8K9T9", "UMLS:C5882222", "UniProtKB:O15067", "PR:O15067", "ENSEMBL:ENSP00000313490", "ENSEMBL:ENSP00000313490.6", "UniProtKB:Q6P4B4"], "information_content": 92.8}
{"id": "UniProtKB:Q8N3J3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homologous recombination OB-fold protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3J3-1", "PR:Q8N3J3-1", "ENSEMBL:ENSP00000313500", "ENSEMBL:ENSP00000313500.4"], "information_content": 100.0}
{"id": "UniProtKB:Q93100-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphorylase b kinase regulatory subunit beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q93100-1", "PR:Q93100-1", "ENSEMBL:ENSP00000313504", "ENSEMBL:ENSP00000313504.5"], "information_content": 100.0}
{"id": "UniProtKB:P47929", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LEG7_HUMAN Galectin-7 (sprot)", "equivalent_identifiers": ["UniProtKB:P47929", "PR:P47929", "ENSEMBL:ENSP00000313571", "ENSEMBL:ENSP00000313571.3", "ENSEMBL:ENSP00000367891", "ENSEMBL:ENSP00000367891.3", "ENSEMBL:ENSP00000489395", "ENSEMBL:ENSP00000489395.1", "ENSEMBL:ENSP00000489582", "ENSEMBL:ENSP00000489582.1", "UMLS:C1447351", "MESH:C092525"], "information_content": 100.0}
{"id": "UniProtKB:P20151-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kallikrein-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20151-1", "PR:P20151-1", "ENSEMBL:ENSP00000313581", "ENSEMBL:ENSP00000313581.2"], "information_content": 100.0}
{"id": "NCBIGene:80818", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF436", "equivalent_identifiers": ["NCBIGene:80818", "ENSEMBL:ENSG00000125945", "HGNC:20814", "OMIM:611703", "UMLS:C1427144", "UniProtKB:A0AAA9YHR6", "ENSEMBL:ENSP00000518728", "ENSEMBL:ENSP00000518728.1", "ENSEMBL:ENSP00000518729", "ENSEMBL:ENSP00000518729.1", "UniProtKB:Q9C0F3", "PR:Q9C0F3", "ENSEMBL:ENSP00000313582", "ENSEMBL:ENSP00000313582.4", "ENSEMBL:ENSP00000363736", "ENSEMBL:ENSP00000363736.3", "ENSEMBL:ENSP00000489127", "ENSEMBL:ENSP00000489127.1", "ENSEMBL:ENSP00000489469", "ENSEMBL:ENSP00000489469.1", "UMLS:C1959469", "MESH:C522122"], "information_content": 100.0}
{"id": "UniProtKB:O94823-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid-transporting ATPase VB isoform A (human)", "equivalent_identifiers": ["UniProtKB:O94823-1", "PR:O94823-1", "ENSEMBL:ENSP00000313600", "ENSEMBL:ENSP00000313600.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6P1N0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil and C2 domain-containing protein 1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P1N0-1", "PR:Q6P1N0-1", "ENSEMBL:ENSP00000313601", "ENSEMBL:ENSP00000313601.6", "ENSEMBL:ENSP00000500461", "ENSEMBL:ENSP00000500461.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NE71-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family F member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NE71-1", "PR:Q8NE71-1", "ENSEMBL:ENSP00000313603", "ENSEMBL:ENSP00000313603.8", "ENSEMBL:ENSP00000373082", "ENSEMBL:ENSP00000373082.4", "ENSEMBL:ENSP00000389065", "ENSEMBL:ENSP00000389065.2", "ENSEMBL:ENSP00000411327", "ENSEMBL:ENSP00000411327.2", "ENSEMBL:ENSP00000412553", "ENSEMBL:ENSP00000412553.2", "ENSEMBL:ENSP00000413319", "ENSEMBL:ENSP00000413319.2", "ENSEMBL:ENSP00000414373", "ENSEMBL:ENSP00000414373.2"], "information_content": 100.0}
{"id": "UniProtKB:Q60I27-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ALS2 C-terminal-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q60I27-1", "PR:Q60I27-1", "ENSEMBL:ENSP00000313670", "ENSEMBL:ENSP00000313670.4", "ENSEMBL:ENSP00000413223", "ENSEMBL:ENSP00000413223.1"], "information_content": 100.0}
{"id": "MONDO:0010965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 6", "equivalent_identifiers": ["MONDO:0010965", "DOID:0110512", "OMIM:600971", "UMLS:C1832992", "MESH:C563418", "medgen:322088"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYA1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sphingosine kinase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYA1-2", "PR:Q9NYA1-2", "ENSEMBL:ENSP00000313681", "ENSEMBL:ENSP00000313681.3"], "information_content": 100.0}
{"id": "NCBIGene:94033", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FTMT", "equivalent_identifiers": ["NCBIGene:94033", "ENSEMBL:ENSG00000181867", "HGNC:17345", "OMIM:608847", "UMLS:C1539539", "UniProtKB:Q8N4E7", "PR:Q8N4E7", "ENSEMBL:ENSP00000313691", "ENSEMBL:ENSP00000313691.1"], "information_content": 95.4}
{"id": "NCBIGene:341208", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HEPHL1", "equivalent_identifiers": ["NCBIGene:341208", "ENSEMBL:ENSG00000181333", "HGNC:30477", "OMIM:618455", "UMLS:C1539663", "UniProtKB:Q6MZM0", "PR:Q6MZM0", "ENSEMBL:ENSP00000313699", "ENSEMBL:ENSP00000313699.9"], "information_content": 100.0}
{"id": "NCBIGene:8636", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSNA1", "equivalent_identifiers": ["NCBIGene:8636", "ENSEMBL:ENSG00000176101", "HGNC:11321", "OMIM:610882", "UMLS:C1420427", "UniProtKB:O43805", "PR:O43805", "ENSEMBL:ENSP00000313752", "ENSEMBL:ENSP00000313752.5"], "information_content": 95.4}
{"id": "UniProtKB:Q9NP70-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ameloblastin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP70-1", "PR:Q9NP70-1", "ENSEMBL:ENSP00000313809", "ENSEMBL:ENSP00000313809.6"], "information_content": 100.0}
{"id": "NCBIGene:10868", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP20", "equivalent_identifiers": ["NCBIGene:10868", "ENSEMBL:ENSG00000136878", "HGNC:12619", "OMIM:615143", "UMLS:C1421398", "UniProtKB:Q9Y2K6", "PR:Q9Y2K6", "ENSEMBL:ENSP00000313811", "ENSEMBL:ENSP00000313811.4", "ENSEMBL:ENSP00000351122", "ENSEMBL:ENSP00000351122.1", "ENSEMBL:ENSP00000361506", "ENSEMBL:ENSP00000361506.3", "UMLS:C1432495", "MESH:C459591"], "information_content": 95.4}
{"id": "UniProtKB:Q07666-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KH domain-containing, RNA-binding, signal transduction-associated protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q07666-1", "PR:Q07666-1", "ENSEMBL:ENSP00000313829", "ENSEMBL:ENSP00000313829.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9NTI5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sister chromatid cohesion protein PDS5 homolog B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NTI5-1", "PR:Q9NTI5-1", "ENSEMBL:ENSP00000313851", "ENSEMBL:ENSP00000313851.10"], "information_content": 100.0}
{"id": "UniProtKB:Q96KA5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lipid scramblase CLPTM1L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96KA5-1", "PR:Q96KA5-1", "ENSEMBL:ENSP00000313854", "ENSEMBL:ENSP00000313854.5", "ENSEMBL:ENSP00000480372", "ENSEMBL:ENSP00000480372.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQQ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi reassembly-stacking protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQQ3-1", "PR:Q9BQQ3-1", "ENSEMBL:ENSP00000313869", "ENSEMBL:ENSP00000313869.3"], "information_content": 100.0}
{"id": "UniProtKB:P15529-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane cofactor protein isoform B (human)", "equivalent_identifiers": ["UniProtKB:P15529-2", "PR:P15529-2", "ENSEMBL:ENSP00000313875", "ENSEMBL:ENSP00000313875.4"], "information_content": 100.0}
{"id": "UniProtKB:P43897-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "elongation factor Ts, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P43897-2", "PR:P43897-2", "ENSEMBL:ENSP00000313877", "ENSEMBL:ENSP00000313877.8"], "information_content": 100.0}
{"id": "NCBIGene:7681", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MKRN3", "equivalent_identifiers": ["NCBIGene:7681", "ENSEMBL:ENSG00000179455", "HGNC:7114", "OMIM:603856", "UMLS:C1417179", "UniProtKB:Q13064", "PR:Q13064", "ENSEMBL:ENSP00000313881", "ENSEMBL:ENSP00000313881.3", "UMLS:C1431885", "MESH:C119425"], "information_content": 95.4}
{"id": "UniProtKB:Q9UJ68-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial peptide methionine sulfoxide reductase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJ68-1", "PR:Q9UJ68-1", "ENSEMBL:ENSP00000313921", "ENSEMBL:ENSP00000313921.4", "ENSEMBL:ENSP00000493848", "ENSEMBL:ENSP00000493848.1"], "information_content": 100.0}
{"id": "NCBIGene:23506", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BICRAL", "equivalent_identifiers": ["NCBIGene:23506", "ENSEMBL:ENSG00000112624", "HGNC:21111", "OMIM:618502", "UMLS:C4319857", "UniProtKB:Q6AI39", "PR:Q6AI39", "ENSEMBL:ENSP00000313933", "ENSEMBL:ENSP00000313933.4", "ENSEMBL:ENSP00000377723", "ENSEMBL:ENSP00000377723.1", "UMLS:C4761353"], "information_content": 100.0}
{"id": "MONDO:0000515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone chondrosarcoma", "equivalent_identifiers": ["MONDO:0000515", "DOID:0050897", "UMLS:C3163843", "SNOMEDCT:447792005", "medgen:756255"], "information_content": 90.9}
{"id": "MONDO:0015452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome", "equivalent_identifiers": ["MONDO:0015452", "DOID:1925", "OMIM.PS:135900", "orphanet:1465", "UMLS:C0265338", "MESH:C536436", "MEDDRA:10083941", "NCIT:C35321", "SNOMEDCT:10007009", "medgen:75565", "icd11.foundation:734451870"], "information_content": 83.6}
{"id": "MONDO:0016474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "drug-induced lupus erythematosus", "equivalent_identifiers": ["MONDO:0016474", "DOID:0040093", "orphanet:231111", "UMLS:C0263591", "MESH:C000730515", "MEDDRA:10013706", "NCIT:C114354", "SNOMEDCT:201436003", "SNOMEDCT:80258006", "medgen:537988", "icd11.foundation:1239818910", "ICD10:M32.0"], "information_content": 95.4}
{"id": "MONDO:0020560", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical teratoid rhabdoid tumor", "equivalent_identifiers": ["MONDO:0020560", "DOID:2129", "orphanet:99966", "EFO:1002008", "UMLS:C1266184", "UMLS:CN207484", "NCIT:C6906", "SNOMEDCT:128792003", "medgen:226853", "HP:0034401"], "information_content": 80.9}
{"id": "UniProtKB:Q96GD4-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aurora kinase B isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q96GD4-5", "PR:Q96GD4-5", "ENSEMBL:ENSP00000313950", "ENSEMBL:ENSP00000313950.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZ95-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase NSD3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZ95-1", "PR:Q9BZ95-1", "ENSEMBL:ENSP00000313983", "ENSEMBL:ENSP00000313983.7"], "information_content": 100.0}
{"id": "NCBIGene:116138", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHDC3", "equivalent_identifiers": ["NCBIGene:116138", "ENSEMBL:ENSG00000124702", "HGNC:20704", "OMIM:611248", "UMLS:C1427084", "UniProtKB:Q9BQ90", "PR:Q9BQ90", "ENSEMBL:ENSP00000313995", "ENSEMBL:ENSP00000313995.4"], "information_content": 90.9}
{"id": "MONDO:0009039", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Baller-Gerold syndrome", "equivalent_identifiers": ["MONDO:0009039", "DOID:0050654", "OMIM:218600", "orphanet:1225", "UMLS:C0265308", "MESH:C536788", "MEDDRA:10083963", "SNOMEDCT:77608001", "medgen:120532", "icd11.foundation:1650688177"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJX6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anaphase-promoting complex subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJX6-1", "PR:Q9UJX6-1", "ENSEMBL:ENSP00000314004", "ENSEMBL:ENSP00000314004.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBJ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SID1 transmembrane family member 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBJ9-1", "PR:Q8NBJ9-1", "ENSEMBL:ENSP00000314023", "ENSEMBL:ENSP00000314023.4"], "information_content": 100.0}
{"id": "MONDO:0006180", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "digestive system adenoma", "equivalent_identifiers": ["MONDO:0006180", "DOID:4147", "EFO:1000217", "UMLS:C0948101", "MEDDRA:10051635", "NCIT:C36207", "medgen:184920"], "information_content": 68.6}
{"id": "NCBIGene:26168", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SENP3", "equivalent_identifiers": ["NCBIGene:26168", "ENSEMBL:ENSG00000161956", "HGNC:17862", "OMIM:612844", "UMLS:C1425138", "UniProtKB:Q9H4L4", "PR:Q9H4L4", "ENSEMBL:ENSP00000314029", "ENSEMBL:ENSP00000314029.8", "UMLS:C1567960", "MESH:C499718"], "information_content": 100.0}
{"id": "NCBIGene:10294", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJA2", "equivalent_identifiers": ["NCBIGene:10294", "ENSEMBL:ENSG00000069345", "HGNC:14884", "OMIM:611322", "UMLS:C1423023", "UniProtKB:O60884", "PR:O60884", "ENSEMBL:ENSP00000314030", "ENSEMBL:ENSP00000314030.5", "UMLS:C0960650", "MESH:C494645"], "information_content": 82.1}
{"id": "MONDO:0012105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatosis with polyangiitis", "equivalent_identifiers": ["MONDO:0012105", "DOID:12132", "OMIM:608710", "orphanet:900", "EFO:0005297", "UMLS:C3495801", "UMLS:C4050407", "MESH:D014890", "MEDDRA:10047888", "MEDDRA:10047889", "MEDDRA:10072579", "MEDDRA:10072580", "NCIT:C123111", "NCIT:C3444", "SNOMEDCT:195353004", "medgen:811223", "icd11.foundation:1020056159", "ICD10:M31.3", "ICD9:446.4"], "information_content": 95.4}
{"id": "MONDO:0030703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune vasculitis", "equivalent_identifiers": ["MONDO:0030703", "DOID:0040097", "UMLS:C1328843", "MEDDRA:10089169", "MEDDRA:10090809", "SNOMEDCT:427213005", "medgen:730236"], "information_content": 95.4}
{"id": "UniProtKB:Q9NRZ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase delta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRZ5-1", "PR:Q9NRZ5-1", "ENSEMBL:ENSP00000314036", "ENSEMBL:ENSP00000314036.4"], "information_content": 100.0}
{"id": "NCBIGene:117196", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRGPRX4", "equivalent_identifiers": ["NCBIGene:117196", "ENSEMBL:ENSG00000179817", "HGNC:17617", "OMIM:607230", "UMLS:C1826282", "UniProtKB:Q96LA9", "PR:Q96LA9", "ENSEMBL:ENSP00000314042", "ENSEMBL:ENSP00000314042.3", "UMLS:C5391375", "MESH:C000657324"], "information_content": 100.0}
{"id": "NCBIGene:5062", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAK2", "equivalent_identifiers": ["NCBIGene:5062", "ENSEMBL:ENSG00000180370", "HGNC:8591", "OMIM:605022", "UMLS:C1418260", "UniProtKB:A8K5M4", "UMLS:C1568742", "MESH:C515907", "UniProtKB:Q13177", "PR:Q13177", "ENSEMBL:ENSP00000314067", "ENSEMBL:ENSP00000314067.3"], "information_content": 84.2}
{"id": "UniProtKB:Q14526-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hypermethylated in cancer 1 protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14526-1", "PR:Q14526-1", "ENSEMBL:ENSP00000314080", "ENSEMBL:ENSP00000314080.3"], "information_content": 100.0}
{"id": "NCBIGene:11238", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CA5B", "equivalent_identifiers": ["NCBIGene:11238", "ENSEMBL:ENSG00000169239", "HGNC:1378", "OMIM:300230", "UMLS:C1413047", "UniProtKB:Q9Y2D0", "PR:Q9Y2D0", "ENSEMBL:ENSP00000314099", "ENSEMBL:ENSP00000314099.3"], "information_content": 90.9}
{"id": "UniProtKB:Q6UX40-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 107 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q6UX40-4", "PR:Q6UX40-4", "ENSEMBL:ENSP00000314116", "ENSEMBL:ENSP00000314116.5"], "information_content": 100.0}
{"id": "UniProtKB:P19532-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor E3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P19532-1", "PR:P19532-1", "ENSEMBL:ENSP00000314129", "ENSEMBL:ENSP00000314129.7", "ENSEMBL:ENSP00000518054", "ENSEMBL:ENSP00000518054.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UMX3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Bcl-2-related ovarian killer protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMX3-1", "PR:Q9UMX3-1", "ENSEMBL:ENSP00000314132", "ENSEMBL:ENSP00000314132.3"], "information_content": 100.0}
{"id": "UniProtKB:P07288-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostate-specific antigen isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P07288-1", "PR:P07288-1", "ENSEMBL:ENSP00000314151", "ENSEMBL:ENSP00000314151.1"], "information_content": 100.0}
{"id": "MONDO:0002450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prostatic adenoma", "equivalent_identifiers": ["MONDO:0002450", "DOID:2883", "UMLS:C0520477", "MEDDRA:10036906", "MEDDRA:10036940", "NCIT:C4795", "SNOMEDCT:21173002", "medgen:105447"], "information_content": 100.0}
{"id": "MONDO:0006679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bladder neck obstruction", "equivalent_identifiers": ["MONDO:0006679", "DOID:13948", "EFO:1000840", "UMLS:C0005694", "UMLS:C5848242", "MESH:D001748", "MEDDRA:10005053", "MEDDRA:10005060", "MEDDRA:10005087", "MEDDRA:10029971", "MEDDRA:10046529", "MEDDRA:10071445", "NCIT:C79541", "SNOMEDCT:399072004", "SNOMEDCT:416991005", "medgen:14151", "icd11.foundation:441939472", "ICD10:N32.0", "ICD9:596.0", "HP:0041047"], "information_content": 100.0}
{"id": "MONDO:0004826", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Urethral Stone", "equivalent_identifiers": ["MONDO:0004826", "DOID:9589", "UMLS:C0162301", "MEDDRA:10006993", "MEDDRA:10007026", "MEDDRA:10046430", "NCIT:C26995", "SNOMEDCT:20342001", "medgen:57664", "ICD10:N21.1", "ICD9:594.2"], "information_content": 100.0}
{"id": "MONDO:0004192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urethra cancer", "equivalent_identifiers": ["MONDO:0004192", "DOID:734", "UMLS:C0153620", "MEDDRA:10026610", "NCIT:C7507", "SNOMEDCT:363459007", "medgen:57565", "ICD10:C68.0", "ICD9:189.3"], "information_content": 74.2}
{"id": "UniProtKB:A0A7P0T8U4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A7P0T8U4_HUMAN Synaptosomal-associated protein 47 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A7P0T8U4", "ENSEMBL:ENSP00000314157", "ENSEMBL:ENSP00000314157.7", "ENSEMBL:ENSP00000505265", "ENSEMBL:ENSP00000505265.1"]}
{"id": "NCBIGene:401474", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAMD12", "equivalent_identifiers": ["NCBIGene:401474", "ENSEMBL:ENSG00000177570", "HGNC:31750", "OMIM:618073", "UMLS:C1539725", "UniProtKB:B8ZZB7", "ENSEMBL:ENSP00000387133", "ENSEMBL:ENSP00000387133.5", "UniProtKB:H0YEJ0", "ENSEMBL:ENSP00000435927", "ENSEMBL:ENSP00000435927.2", "UMLS:C5197095", "MESH:C000630916", "UniProtKB:Q8N8I0", "PR:Q8N8I0", "ENSEMBL:ENSP00000314173", "ENSEMBL:ENSP00000314173.4"], "information_content": 100.0}
{"id": "MONDO:0000722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "synpolydactyly", "equivalent_identifiers": ["MONDO:0000722", "DOID:0060242"], "information_content": 87.2}
{"id": "NCBIGene:84128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR75", "equivalent_identifiers": ["NCBIGene:84128", "ENSEMBL:ENSG00000115368", "HGNC:25725", "OMIM:620341", "UMLS:C1823839", "UniProtKB:Q8IWA0", "PR:Q8IWA0", "ENSEMBL:ENSP00000314193", "ENSEMBL:ENSP00000314193.4"], "information_content": 87.2}
{"id": "UniProtKB:Q96T53-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ghrelin O-acyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96T53-1", "PR:Q96T53-1", "ENSEMBL:ENSP00000314196", "ENSEMBL:ENSP00000314196.3"], "information_content": 100.0}
{"id": "NCBIGene:54112", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR88", "equivalent_identifiers": ["NCBIGene:54112", "ENSEMBL:ENSG00000181656", "HGNC:4539", "OMIM:607468", "UMLS:C1415269", "UniProtKB:Q9GZN0", "PR:Q9GZN0", "ENSEMBL:ENSP00000314223", "ENSEMBL:ENSP00000314223.4", "UMLS:C1259577", "MESH:C418740"], "information_content": 100.0}
{"id": "NCBIGene:3078", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFHR1", "equivalent_identifiers": ["NCBIGene:3078", "ENSEMBL:ENSG00000244414", "HGNC:4888", "OMIM:134371", "UMLS:C1538441", "UniProtKB:A0A8V8TNS5", "ENSEMBL:ENSP00000514391", "ENSEMBL:ENSP00000514391.1", "UniProtKB:A0A8V8TQ26", "ENSEMBL:ENSP00000514392", "ENSEMBL:ENSP00000514392.1", "UniProtKB:Q03591", "PR:Q03591", "ENSEMBL:ENSP00000314299", "ENSEMBL:ENSP00000314299.5", "UMLS:C1447757", "MESH:C517621"], "information_content": 95.4}
{"id": "NCBIGene:1662", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX10", "equivalent_identifiers": ["NCBIGene:1662", "ENSEMBL:ENSG00000178105", "HGNC:2735", "OMIM:601235", "UMLS:C1413952", "UniProtKB:Q13206", "PR:Q13206", "ENSEMBL:ENSP00000314348", "ENSEMBL:ENSP00000314348.3", "UMLS:C1567650", "MESH:C499217"], "information_content": 92.8}
{"id": "NCBIGene:2907", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRINA", "equivalent_identifiers": ["NCBIGene:2907", "ENSEMBL:ENSG00000178719", "HGNC:4589", "OMIM:138251", "UMLS:C1415303", "UniProtKB:Q7Z429", "PR:Q7Z429", "ENSEMBL:ENSP00000314380", "ENSEMBL:ENSP00000314380.5", "ENSEMBL:ENSP00000378507", "ENSEMBL:ENSP00000378507.4", "UMLS:C2976083"], "information_content": 92.8}
{"id": "UniProtKB:Q6P2P2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein arginine N-methyltransferase 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P2P2-1", "PR:Q6P2P2-1", "ENSEMBL:ENSP00000314396", "ENSEMBL:ENSP00000314396.6"], "information_content": 100.0}
{"id": "NCBIGene:767", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CA8", "equivalent_identifiers": ["NCBIGene:767", "ENSEMBL:ENSG00000178538", "HGNC:1382", "OMIM:114815", "UMLS:C1413051", "UniProtKB:P35219", "PR:P35219", "ENSEMBL:ENSP00000314407", "ENSEMBL:ENSP00000314407.4", "UMLS:C1447097", "MESH:C512818"], "information_content": 92.8}
{"id": "UniProtKB:O15534-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "period circadian protein homolog 1 isoform hRigui 4.7 (human)", "equivalent_identifiers": ["UniProtKB:O15534-1", "PR:O15534-1", "ENSEMBL:ENSP00000314420", "ENSEMBL:ENSP00000314420.4"], "information_content": 100.0}
{"id": "MONDO:0012675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corticosteroid-binding globulin deficiency", "equivalent_identifiers": ["MONDO:0012675", "DOID:0090030", "OMIM:611489", "orphanet:199247", "UMLS:C1852529", "UMLS:C1969107", "MESH:C565152", "MESH:C566934", "SNOMEDCT:773728004", "medgen:343831", "ICD10:E27.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBP6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA (guanine-N(7)-)-methyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBP6-1", "PR:Q9UBP6-1", "ENSEMBL:ENSP00000314441", "ENSEMBL:ENSP00000314441.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2L0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 35 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2L0-1", "PR:Q9P2L0-1", "ENSEMBL:ENSP00000314444", "ENSEMBL:ENSP00000314444.5"], "information_content": 100.0}
{"id": "NCBIGene:340260", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UNCX", "equivalent_identifiers": ["NCBIGene:340260", "ENSEMBL:ENSG00000164853", "HGNC:33194", "UMLS:C2240144", "UniProtKB:A6NJT0", "PR:A6NJT0", "ENSEMBL:ENSP00000314480", "ENSEMBL:ENSP00000314480.8"], "information_content": 100.0}
{"id": "UniProtKB:Q8N635-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "meiosis-specific with OB domain-containing protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N635-2", "PR:Q8N635-2", "ENSEMBL:ENSP00000314484", "ENSEMBL:ENSP00000314484.3"], "information_content": 100.0}
{"id": "UniProtKB:O14976-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-G-associated kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14976-1", "PR:O14976-1", "ENSEMBL:ENSP00000314499", "ENSEMBL:ENSP00000314499.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96FL9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypeptide N-acetylgalactosaminyltransferase 14 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96FL9-3", "PR:Q96FL9-3", "ENSEMBL:ENSP00000314500", "ENSEMBL:ENSP00000314500.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXL9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA helicase MCM9 isoform L (human)", "equivalent_identifiers": ["UniProtKB:Q9NXL9-1", "PR:Q9NXL9-1", "ENSEMBL:ENSP00000314505", "ENSEMBL:ENSP00000314505.5", "ENSEMBL:ENSP00000480469", "ENSEMBL:ENSP00000480469.1"], "information_content": 100.0}
{"id": "MONDO:0001913", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oligospermia", "equivalent_identifiers": ["MONDO:0001913", "DOID:14228", "UMLS:C0028960", "UMLS:C0868910", "MESH:D009845", "MEDDRA:10030300", "MEDDRA:10030301", "MEDDRA:10079294", "NCIT:C34860", "SNOMEDCT:88311004", "medgen:18162", "icd11.foundation:1497721709", "ICD10:N46.1", "ICD9:606.1", "HP:0000798"], "information_content": 88.2}
{"id": "UniProtKB:P04062-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal acid glucosylceramidase isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P04062-1", "PR:P04062-1", "ENSEMBL:ENSP00000314508", "ENSEMBL:ENSP00000314508.5", "ENSEMBL:ENSP00000357357", "ENSEMBL:ENSP00000357357.3"], "information_content": 100.0}
{"id": "NCBIGene:221960", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCZ1B", "equivalent_identifiers": ["NCBIGene:221960", "ENSEMBL:ENSG00000146574", "HGNC:21717", "UMLS:C1427714", "UniProtKB:P86790", "PR:P86790", "ENSEMBL:ENSP00000314544", "ENSEMBL:ENSP00000314544.8"], "information_content": 89.4}
{"id": "UniProtKB:Q9BZF9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uveal autoantigen with coiled-coil domains and ankyrin repeats isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZF9-1", "PR:Q9BZF9-1", "ENSEMBL:ENSP00000314556", "ENSEMBL:ENSP00000314556.6"], "information_content": 100.0}
{"id": "NCBIGene:79929", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAP6D1", "equivalent_identifiers": ["NCBIGene:79929", "ENSEMBL:ENSG00000180834", "HGNC:25753", "OMIM:610593", "UMLS:C1825945", "UniProtKB:Q9H9H5", "PR:Q9H9H5", "ENSEMBL:ENSP00000314560", "ENSEMBL:ENSP00000314560.4"], "information_content": 100.0}
{"id": "NCBIGene:6448", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SGSH", "equivalent_identifiers": ["NCBIGene:6448", "ENSEMBL:ENSG00000181523", "HGNC:10818", "OMIM:605270", "UMLS:C1420015", "UniProtKB:P51688", "PR:P51688", "ENSEMBL:ENSP00000314606", "ENSEMBL:ENSP00000314606.6", "UMLS:C2603588"], "information_content": 88.2}
{"id": "NCBIGene:55175", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHL11", "equivalent_identifiers": ["NCBIGene:55175", "ENSEMBL:ENSG00000178502", "HGNC:19008", "OMIM:619078", "UMLS:C1425947", "UniProtKB:Q9NVR0", "PR:Q9NVR0", "ENSEMBL:ENSP00000314608", "ENSEMBL:ENSP00000314608.3", "UMLS:C3657495", "MESH:C581033"], "information_content": 89.4}
{"id": "UniProtKB:Q8N6T3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor GTPase-activating protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6T3-2", "PR:Q8N6T3-2", "ENSEMBL:ENSP00000314615", "ENSEMBL:ENSP00000314615.3"], "information_content": 100.0}
{"id": "UniProtKB:P51649-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "succinate-semialdehyde dehydrogenase, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51649-2", "PR:P51649-2", "ENSEMBL:ENSP00000314649", "ENSEMBL:ENSP00000314649.3"], "information_content": 100.0}
{"id": "MONDO:0013166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GABA aminotransaminase deficiency", "equivalent_identifiers": ["MONDO:0013166", "DOID:0060174", "OMIM:613163", "orphanet:2066", "UMLS:C0342708", "MESH:C535407", "SNOMEDCT:237941007", "medgen:137977"], "information_content": 100.0}
{"id": "NCBIGene:22882", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZHX2", "equivalent_identifiers": ["NCBIGene:22882", "ENSEMBL:ENSG00000178764", "HGNC:18513", "OMIM:609185", "UMLS:C1425569", "UniProtKB:Q9Y6X8", "PR:Q9Y6X8", "ENSEMBL:ENSP00000314709", "ENSEMBL:ENSP00000314709.4", "UMLS:C1311228", "MESH:C476826"], "information_content": 95.4}
{"id": "UniProtKB:Q86W92-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "liprin-beta-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86W92-1", "PR:Q86W92-1", "ENSEMBL:ENSP00000314724", "ENSEMBL:ENSP00000314724.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0E2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Toll-interacting protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0E2-1", "PR:Q9H0E2-1", "ENSEMBL:ENSP00000314733", "ENSEMBL:ENSP00000314733.5", "ENSEMBL:ENSP00000516890", "ENSEMBL:ENSP00000516890.1"], "information_content": 100.0}
{"id": "UniProtKB:Q68D91-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-coenzyme A thioesterase MBLAC2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q68D91-1", "PR:Q68D91-1", "ENSEMBL:ENSP00000314776", "ENSEMBL:ENSP00000314776.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9W6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein boule-like isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9W6-3", "PR:Q8N9W6-3", "ENSEMBL:ENSP00000314792", "ENSEMBL:ENSP00000314792.7"], "information_content": 100.0}
{"id": "UniProtKB:Q6PIV2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein R1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PIV2-1", "PR:Q6PIV2-1", "ENSEMBL:ENSP00000314806", "ENSEMBL:ENSP00000314806.3"], "information_content": 100.0}
{"id": "MONDO:0006330", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ossifying fibromyxoid tumor", "equivalent_identifiers": ["MONDO:0006330", "DOID:2685", "EFO:1000408", "UMLS:C1266128", "NCIT:C6582", "SNOMEDCT:128745002", "SNOMEDCT:404076001", "medgen:226846"], "information_content": 90.9}
{"id": "UniProtKB:Q9NPH3-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-1 receptor accessory protein isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPH3-5", "PR:Q9NPH3-5", "ENSEMBL:ENSP00000314807", "ENSEMBL:ENSP00000314807.3"], "information_content": 100.0}
{"id": "NCBIGene:64184", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EDDM3B", "equivalent_identifiers": ["NCBIGene:64184", "ENSEMBL:ENSG00000181552", "HGNC:19223", "OMIM:611582", "UMLS:C1426098", "UniProtKB:P56851", "PR:P56851", "ENSEMBL:ENSP00000314810", "ENSEMBL:ENSP00000314810.3", "UniProtKB:W0UV31"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hydroperoxide isomerase ALOXE3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYJ1-1", "PR:Q9BYJ1-1", "ENSEMBL:ENSP00000314879", "ENSEMBL:ENSP00000314879.4", "ENSEMBL:ENSP00000369494", "ENSEMBL:ENSP00000369494.2", "ENSEMBL:ENSP00000400581", "ENSEMBL:ENSP00000400581.2"], "information_content": 100.0}
{"id": "UniProtKB:O15123-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "angiopoietin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15123-1", "PR:O15123-1", "ENSEMBL:ENSP00000314897", "ENSEMBL:ENSP00000314897.5"], "information_content": 100.0}
{"id": "NCBIGene:57633", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRN1", "equivalent_identifiers": ["NCBIGene:57633", "ENSEMBL:ENSG00000175928", "HGNC:20980", "OMIM:619623", "UMLS:C1427219", "UniProtKB:A8K6Q2", "UMLS:C1530486", "MESH:C494421", "UniProtKB:Q6UXK5", "PR:Q6UXK5", "ENSEMBL:ENSP00000314901", "ENSEMBL:ENSP00000314901.3"], "information_content": 90.9}
{"id": "NCBIGene:56475", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPRM", "equivalent_identifiers": ["NCBIGene:56475", "ENSEMBL:ENSG00000177519", "HGNC:24201", "OMIM:612171", "UMLS:C1539685", "UniProtKB:Q9NS64", "PR:Q9NS64", "ENSEMBL:ENSP00000314946", "ENSEMBL:ENSP00000314946.3", "UMLS:C1439144", "MESH:C412566"], "information_content": 95.4}
{"id": "UniProtKB:Q9UHF4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-20 receptor subunit alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHF4-1", "PR:Q9UHF4-1", "ENSEMBL:ENSP00000314976", "ENSEMBL:ENSP00000314976.5"], "information_content": 100.0}
{"id": "NCBIGene:10692", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RRH", "equivalent_identifiers": ["NCBIGene:10692", "ENSEMBL:ENSG00000180245", "HGNC:10450", "OMIM:605224", "UMLS:C1419759", "UniProtKB:O14718", "PR:O14718", "ENSEMBL:ENSP00000314992", "ENSEMBL:ENSP00000314992.4", "UMLS:C1613865", "MESH:C504671"], "information_content": 100.0}
{"id": "MONDO:0001091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipoma of colon", "equivalent_identifiers": ["MONDO:0001091", "DOID:10655", "UMLS:C0940607", "NCIT:C5493", "medgen:182652"], "information_content": 100.0}
{"id": "NCBIGene:9153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC28A2", "equivalent_identifiers": ["NCBIGene:9153", "ENSEMBL:ENSG00000137860", "HGNC:11002", "OMIM:606208", "UMLS:C1420170", "UniProtKB:O43868", "PR:O43868", "ENSEMBL:ENSP00000315006", "ENSEMBL:ENSP00000315006.4", "UMLS:C1621881", "UMLS:C3810553", "UniProtKB:Q2M2A7", "UniProtKB:Q53H72"], "information_content": 100.0}
{"id": "UniProtKB:P25101-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endothelin-1 receptor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P25101-1", "PR:P25101-1", "ENSEMBL:ENSP00000315011", "ENSEMBL:ENSP00000315011.5", "ENSEMBL:ENSP00000498969", "ENSEMBL:ENSP00000498969.1"], "information_content": 100.0}
{"id": "UniProtKB:P43155-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carnitine O-acetyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P43155-1", "PR:P43155-1", "ENSEMBL:ENSP00000315013", "ENSEMBL:ENSP00000315013.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z4L9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1 regulatory subunit 42 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4L9-2", "PR:Q7Z4L9-2", "ENSEMBL:ENSP00000315035", "ENSEMBL:ENSP00000315035.5"], "information_content": 100.0}
{"id": "NCBIGene:64110", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEF1", "equivalent_identifiers": ["NCBIGene:64110", "ENSEMBL:ENSG00000177383", "HGNC:29639", "OMIM:609267", "UMLS:C1537642", "UniProtKB:Q9HAY2", "PR:Q9HAY2", "ENSEMBL:ENSP00000315064", "ENSEMBL:ENSP00000315064.3", "UMLS:C0967079", "MESH:C429138"], "information_content": 100.0}
{"id": "NCBIGene:219770", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJD4", "equivalent_identifiers": ["NCBIGene:219770", "ENSEMBL:ENSG00000177291", "HGNC:23296", "OMIM:611922", "UMLS:C2239493", "UniProtKB:Q96KN9", "PR:Q96KN9", "ENSEMBL:ENSP00000315070", "ENSEMBL:ENSP00000315070.1", "UMLS:C1450625", "MESH:C484032"], "information_content": 100.0}
{"id": "MONDO:0001019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "suppression amblyopia", "equivalent_identifiers": ["MONDO:0001019", "DOID:10375", "UMLS:C0750903", "MEDDRA:10001912", "MEDDRA:10001913", "MEDDRA:10042158", "MEDDRA:10042582", "SNOMEDCT:35600002", "medgen:152911", "ICD10:H53.03", "ICD9:368.01"], "information_content": 95.4}
{"id": "NCBIGene:132228", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LSMEM2", "equivalent_identifiers": ["NCBIGene:132228", "ENSEMBL:ENSG00000179564", "HGNC:26781", "UMLS:C1824141", "UniProtKB:Q8N112", "PR:Q8N112", "ENSEMBL:ENSP00000315081", "ENSEMBL:ENSP00000315081.3"], "information_content": 100.0}
{"id": "NCBIGene:10876", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EDDM3A", "equivalent_identifiers": ["NCBIGene:10876", "ENSEMBL:ENSG00000181562", "HGNC:16978", "OMIM:611580", "UMLS:C1424671", "UniProtKB:Q14507", "PR:Q14507", "ENSEMBL:ENSP00000315098", "ENSEMBL:ENSP00000315098.2", "UniProtKB:W0UTC5"], "information_content": 100.0}
{"id": "UniProtKB:Q96EP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF31 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EP0-1", "PR:Q96EP0-1", "ENSEMBL:ENSP00000315112", "ENSEMBL:ENSP00000315112.6", "ENSEMBL:ENSP00000496609", "ENSEMBL:ENSP00000496609.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96D53-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "atypical kinase COQ8B, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96D53-1", "PR:Q96D53-1", "ENSEMBL:ENSP00000315118", "ENSEMBL:ENSP00000315118.3", "ENSEMBL:ENSP00000470876", "ENSEMBL:ENSP00000470876.2", "ENSEMBL:ENSP00000470916", "ENSEMBL:ENSP00000470916.2", "ENSEMBL:ENSP00000503480", "ENSEMBL:ENSP00000503480.1", "ENSEMBL:ENSP00000503944", "ENSEMBL:ENSP00000503944.1", "ENSEMBL:ENSP00000504072", "ENSEMBL:ENSP00000504072.1", "ENSEMBL:ENSP00000504085", "ENSEMBL:ENSP00000504085.1", "ENSEMBL:ENSP00000504845", "ENSEMBL:ENSP00000504845.1"], "information_content": 100.0}
{"id": "MONDO:0003139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesangial proliferative glomerulonephritis", "equivalent_identifiers": ["MONDO:0003139", "DOID:4783", "UMLS:C0221238", "MEDDRA:10066453", "NCIT:C35445", "SNOMEDCT:35546006", "medgen:66364"], "information_content": 100.0}
{"id": "UniProtKB:P10909-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "clusterin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P10909-1", "PR:P10909-1", "ENSEMBL:ENSP00000315130", "ENSEMBL:ENSP00000315130.10", "ENSEMBL:ENSP00000385419", "ENSEMBL:ENSP00000385419.3", "ENSEMBL:ENSP00000429620", "ENSEMBL:ENSP00000429620.1"], "information_content": 100.0}
{"id": "NCBIGene:9546", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APBA3", "equivalent_identifiers": ["NCBIGene:9546", "ENSEMBL:ENSG00000011132", "HGNC:580", "OMIM:604262", "UMLS:C1412458", "UniProtKB:O96018", "PR:O96018", "ENSEMBL:ENSP00000315136", "ENSEMBL:ENSP00000315136.2", "UMLS:C1431717", "UMLS:C3537336", "MESH:C117536"], "information_content": 95.4}
{"id": "MONDO:0001156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "borderline personality disorder", "equivalent_identifiers": ["MONDO:0001156", "DOID:10930", "UMLS:C0006012", "UMLS:C0338970", "MESH:D001883", "MEDDRA:10006033", "MEDDRA:10006034", "MEDDRA:10079255", "NCIT:C92633", "SNOMEDCT:191765005", "SNOMEDCT:20010003", "medgen:14197", "icd11.foundation:189289487", "ICD10:F60.3", "ICD9:301.83", "HP:0012076"], "information_content": 100.0}
{"id": "MONDO:0002072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melanotic neuroectodermal tumor", "equivalent_identifiers": ["MONDO:0002072", "DOID:166", "EFO:1001038", "UMLS:C0206094", "MESH:D017600", "NCIT:C3717", "SNOMEDCT:1513001", "SNOMEDCT:404042005", "SNOMEDCT:767047005", "medgen:60073"], "information_content": 95.4}
{"id": "UniProtKB:Q8IWX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sphingosine-1-phosphate phosphatase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWX5-1", "PR:Q8IWX5-1", "ENSEMBL:ENSP00000315137", "ENSEMBL:ENSP00000315137.7"], "information_content": 100.0}
{"id": "NCBIGene:254042", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "METAP1D", "equivalent_identifiers": ["NCBIGene:254042", "ENSEMBL:ENSG00000172878", "HGNC:32583", "OMIM:610267", "UMLS:C1853222", "UniProtKB:Q6UB28", "PR:Q6UB28", "ENSEMBL:ENSP00000315152", "ENSEMBL:ENSP00000315152.4", "ENSEMBL:ENSP00000517833", "ENSEMBL:ENSP00000517833.1", "UMLS:C1723413", "MESH:C511921"], "information_content": 84.8}
{"id": "MONDO:0001239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anemia of prematurity", "equivalent_identifiers": ["MONDO:0001239", "DOID:11243", "UMLS:C0158996", "MEDDRA:10002074", "MEDDRA:10002307", "NCIT:C97167", "SNOMEDCT:47100003", "medgen:472907", "ICD10:P61.2", "ICD9:776.6"], "information_content": 100.0}
{"id": "UniProtKB:Q6PI26-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SHQ1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PI26-1", "PR:Q6PI26-1", "ENSEMBL:ENSP00000315182", "ENSEMBL:ENSP00000315182.8"], "information_content": 100.0}
{"id": "UniProtKB:P26006-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin alpha-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P26006-2", "PR:P26006-2", "ENSEMBL:ENSP00000315190", "ENSEMBL:ENSP00000315190.8"], "information_content": 100.0}
{"id": "NCBIGene:200407", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CREG2", "equivalent_identifiers": ["NCBIGene:200407", "ENSEMBL:ENSG00000175874", "HGNC:14272", "OMIM:618540", "UMLS:C1422532", "UniProtKB:Q8IUH2", "PR:Q8IUH2", "ENSEMBL:ENSP00000315203", "ENSEMBL:ENSP00000315203.4", "UMLS:C1258706", "MESH:C474465"], "information_content": 100.0}
{"id": "MONDO:0009268", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "equivalent_identifiers": ["MONDO:0009268", "DOID:0112250", "OMIM:231005", "orphanet:2072", "UMLS:C1856476", "UMLS:C2931585", "MESH:C537675", "MESH:C565553", "SNOMEDCT:1156813002", "medgen:341563"], "information_content": 100.0}
{"id": "NCBIGene:51228", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLTP", "equivalent_identifiers": ["NCBIGene:51228", "ENSEMBL:ENSG00000139433", "HGNC:24867", "OMIM:608949", "UMLS:C1825375", "UniProtKB:Q9NZD2", "PR:Q9NZD2", "ENSEMBL:ENSP00000315263", "ENSEMBL:ENSP00000315263.3", "UMLS:C1723414", "MESH:C511922"], "information_content": 89.4}
{"id": "NCBIGene:284254", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYNAP", "equivalent_identifiers": ["NCBIGene:284254", "ENSEMBL:ENSG00000178690", "HGNC:26808", "OMIM:619421", "UMLS:C1540269", "UniProtKB:A0A3B3IRJ4", "ENSEMBL:ENSP00000496812", "ENSEMBL:ENSP00000496812.1", "UniProtKB:K7EMN5", "ENSEMBL:ENSP00000466577", "ENSEMBL:ENSP00000466577.1", "UniProtKB:Q8N1N2", "PR:Q8N1N2", "ENSEMBL:ENSP00000315265", "ENSEMBL:ENSP00000315265.1"], "information_content": 100.0}
{"id": "NCBIGene:810", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CALML3", "equivalent_identifiers": ["NCBIGene:810", "ENSEMBL:ENSG00000178363", "HGNC:1452", "OMIM:114184", "UMLS:C1413095", "UniProtKB:P27482", "PR:P27482", "ENSEMBL:ENSP00000315299", "ENSEMBL:ENSP00000315299.1", "UMLS:C0660916", "MESH:C082965"], "information_content": 95.4}
{"id": "UniProtKB:Q8N465-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N465-1", "PR:Q8N465-1", "ENSEMBL:ENSP00000315351", "ENSEMBL:ENSP00000315351.4"], "information_content": 100.0}
{"id": "NCBIGene:203859", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANO5", "equivalent_identifiers": ["NCBIGene:203859", "ENSEMBL:ENSG00000171714", "HGNC:27337", "OMIM:608662", "UMLS:C1428652", "UniProtKB:A0A804HKP2", "ENSEMBL:ENSP00000508009", "ENSEMBL:ENSP00000508009.1", "UniProtKB:A0A804HL91", "ENSEMBL:ENSP00000508251", "ENSEMBL:ENSP00000508251.1", "UniProtKB:Q75V66", "PR:Q75V66", "ENSEMBL:ENSP00000315371", "ENSEMBL:ENSP00000315371.9", "UMLS:C2932483", "MESH:C547813"], "information_content": 100.0}
{"id": "UniProtKB:O43395-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U4/U6 small nuclear ribonucleoprotein Prp3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43395-1", "PR:O43395-1", "ENSEMBL:ENSP00000315379", "ENSEMBL:ENSP00000315379.6"], "information_content": 100.0}
{"id": "MONDO:0001886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "midline cystocele", "equivalent_identifiers": ["MONDO:0001886", "DOID:14131", "UMLS:C1456248", "SNOMEDCT:423633003", "medgen:733480", "ICD10:N81.11", "ICD9:618.01"], "information_content": 100.0}
{"id": "UniProtKB:Q53RT3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retroviral-like aspartic protease 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q53RT3-2", "PR:Q53RT3-2", "ENSEMBL:ENSP00000315383", "ENSEMBL:ENSP00000315383.5"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z4H8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein O-glucosyltransferase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4H8-1", "PR:Q7Z4H8-1", "ENSEMBL:ENSP00000315386", "ENSEMBL:ENSP00000315386.5"], "information_content": 100.0}
{"id": "NCBIGene:284114", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM102", "equivalent_identifiers": ["NCBIGene:284114", "ENSEMBL:ENSG00000181284", "HGNC:26722", "OMIM:613936", "UMLS:C1823362", "UniProtKB:Q8N9M5", "PR:Q8N9M5", "ENSEMBL:ENSP00000315387", "ENSEMBL:ENSP00000315387.1", "ENSEMBL:ENSP00000379815", "ENSEMBL:ENSP00000379815.1", "ENSEMBL:ENSP00000491063", "ENSEMBL:ENSP00000491063.1", "ENSEMBL:ENSP00000491290", "ENSEMBL:ENSP00000491290.1", "UMLS:C3711020", "MESH:C584197"], "information_content": 100.0}
{"id": "UniProtKB:Q9H4L5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxysterol-binding protein-related protein 3 isoform h1a (human)", "equivalent_identifiers": ["UniProtKB:Q9H4L5-1", "PR:Q9H4L5-1", "ENSEMBL:ENSP00000315410", "ENSEMBL:ENSP00000315410.2"], "information_content": 100.0}
{"id": "NCBIGene:8092", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALX1", "equivalent_identifiers": ["NCBIGene:8092", "ENSEMBL:ENSG00000180318", "HGNC:1494", "OMIM:601527", "UMLS:C1413127", "UniProtKB:Q15699", "PR:Q15699", "ENSEMBL:ENSP00000315417", "ENSEMBL:ENSP00000315417.3", "UMLS:C1450827", "MESH:C489985", "UniProtKB:V9HWA7"], "information_content": 95.4}
{"id": "MONDO:0012718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotonia with lactic acidemia and hyperammonemia", "equivalent_identifiers": ["MONDO:0012718", "DOID:0111473", "OMIM:611719", "orphanet:137908", "UMLS:C2673642", "MESH:C567126", "SNOMEDCT:724279004", "medgen:435972"], "information_content": 100.0}
{"id": "NCBIGene:57453", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DSCAML1", "equivalent_identifiers": ["NCBIGene:57453", "ENSEMBL:ENSG00000177103", "HGNC:14656", "OMIM:611782", "UMLS:C1422818", "UniProtKB:A0A384DVL8", "ENSEMBL:ENSP00000315465", "ENSEMBL:ENSP00000315465.6", "ENSEMBL:ENSP00000498407", "ENSEMBL:ENSP00000498407.1", "UMLS:C0968433", "MESH:C432365", "UniProtKB:Q8TD84", "PR:Q8TD84"]}
{"id": "NCBIGene:54512", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXOSC4", "equivalent_identifiers": ["NCBIGene:54512", "ENSEMBL:ENSG00000178896", "HGNC:18189", "OMIM:606491", "UMLS:C1425367", "UniProtKB:Q9NPD3", "PR:Q9NPD3", "ENSEMBL:ENSP00000315476", "ENSEMBL:ENSP00000315476.4", "UMLS:C1447783", "MESH:C415835"], "information_content": 89.4}
{"id": "UniProtKB:Q9NNX6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD209 antigen isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NNX6-1", "PR:Q9NNX6-1", "ENSEMBL:ENSP00000315477", "ENSEMBL:ENSP00000315477.6"], "information_content": 100.0}
{"id": "NCBIGene:374768", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPEM1", "equivalent_identifiers": ["NCBIGene:374768", "ENSEMBL:ENSG00000181323", "HGNC:32429", "OMIM:615116", "UMLS:C1824475", "UniProtKB:Q8N4L4", "PR:Q8N4L4", "ENSEMBL:ENSP00000315554", "ENSEMBL:ENSP00000315554.3", "ENSEMBL:ENSP00000492561", "ENSEMBL:ENSP00000492561.1", "UMLS:C5226384", "MESH:C000655266"], "information_content": 100.0}
{"id": "UniProtKB:Q3B8N2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "galectin-9B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q3B8N2-2", "PR:Q3B8N2-2", "ENSEMBL:ENSP00000315564", "ENSEMBL:ENSP00000315564.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBF6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "late secretory pathway protein AVL9 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBF6-1", "PR:Q8NBF6-1", "ENSEMBL:ENSP00000315568", "ENSEMBL:ENSP00000315568.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DIS3-like exonuclease 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYB7-1", "PR:Q8IYB7-1", "ENSEMBL:ENSP00000315569", "ENSEMBL:ENSP00000315569.7"], "information_content": 100.0}
{"id": "UniProtKB:P32297-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal acetylcholine receptor subunit alpha-3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P32297-2", "PR:P32297-2", "ENSEMBL:ENSP00000315602", "ENSEMBL:ENSP00000315602.5", "ENSEMBL:ENSP00000452896", "ENSEMBL:ENSP00000452896.1"], "information_content": 100.0}
{"id": "NCBIGene:23075", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SWAP70", "equivalent_identifiers": ["NCBIGene:23075", "ENSEMBL:ENSG00000133789", "HGNC:17070", "OMIM:604762", "UMLS:C1858156", "UniProtKB:B3KUB9", "UMLS:C1453239", "MESH:C491873", "UniProtKB:E7EMB1", "ENSEMBL:ENSP00000399056", "ENSEMBL:ENSP00000399056.2", "UniProtKB:Q9UH65", "PR:Q9UH65", "ENSEMBL:ENSP00000315630", "ENSEMBL:ENSP00000315630.6"], "information_content": 92.8}
{"id": "UniProtKB:P04818-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thymidylate synthase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P04818-1", "PR:P04818-1", "ENSEMBL:ENSP00000315644", "ENSEMBL:ENSP00000315644.10"], "information_content": 100.0}
{"id": "NCBIGene:26251", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNG2", "equivalent_identifiers": ["NCBIGene:26251", "ENSEMBL:ENSG00000178342", "HGNC:6249", "OMIM:605696", "UMLS:C1416570", "UniProtKB:Q9UJ96", "PR:Q9UJ96", "ENSEMBL:ENSP00000315654", "ENSEMBL:ENSP00000315654.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6XZF7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynamin-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6XZF7-1", "PR:Q6XZF7-1", "ENSEMBL:ENSP00000315659", "ENSEMBL:ENSP00000315659.4"], "information_content": 100.0}
{"id": "MONDO:0009297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial renal glucosuria", "equivalent_identifiers": ["MONDO:0009297", "DOID:0070613", "DOID:9432", "OMIM:233100", "orphanet:69076", "EFO:1001151", "UMLS:C0017980", "UMLS:C3245525", "MESH:D006030", "MEDDRA:10018479", "MEDDRA:10038457", "MEDDRA:10073689", "SNOMEDCT:226309007", "SNOMEDCT:267430007", "medgen:757652", "icd11.foundation:381783069", "ICD9:271.4"], "information_content": 100.0}
{"id": "UniProtKB:P17022-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P17022-1", "PR:P17022-1", "ENSEMBL:ENSP00000315664", "ENSEMBL:ENSP00000315664.3", "ENSEMBL:ENSP00000462296", "ENSEMBL:ENSP00000462296.3", "ENSEMBL:ENSP00000463471", "ENSEMBL:ENSP00000463471.1"], "information_content": 100.0}
{"id": "UniProtKB:O00628-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal targeting signal 2 receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00628-1", "PR:O00628-1", "ENSEMBL:ENSP00000315680", "ENSEMBL:ENSP00000315680.3"], "information_content": 100.0}
{"id": "MONDO:0010822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Warburg micro syndrome 1", "equivalent_identifiers": ["MONDO:0010822", "DOID:0110716", "OMIM:600118", "UMLS:C1838625", "MESH:C536681", "medgen:333142"], "information_content": 100.0}
{"id": "NCBIGene:51025", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAM16", "equivalent_identifiers": ["NCBIGene:51025", "ENSEMBL:ENSG00000217930", "HGNC:29679", "OMIM:614336", "UMLS:C3148559", "UniProtKB:Q9Y3D7", "PR:Q9Y3D7", "ENSEMBL:ENSP00000315693", "ENSEMBL:ENSP00000315693.3", "ENSEMBL:ENSP00000461047", "ENSEMBL:ENSP00000461047.1", "ENSEMBL:ENSP00000484240", "ENSEMBL:ENSP00000484240.1", "ENSEMBL:ENSP00000487678", "ENSEMBL:ENSP00000487678.1", "UMLS:C1619987", "MESH:C503439"], "information_content": 92.8}
{"id": "NCBIGene:8208", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHAF1B", "equivalent_identifiers": ["NCBIGene:8208", "ENSEMBL:ENSG00000159259", "HGNC:1911", "OMIM:601245", "UMLS:C1413375", "UniProtKB:Q13112", "PR:Q13112", "ENSEMBL:ENSP00000315700", "ENSEMBL:ENSP00000315700.4", "UMLS:C1258498", "MESH:C533593"], "information_content": 87.2}
{"id": "UniProtKB:Q8WYL5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase Slingshot homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYL5-1", "PR:Q8WYL5-1", "ENSEMBL:ENSP00000315713", "ENSEMBL:ENSP00000315713.5"], "information_content": 100.0}
{"id": "UniProtKB:Q641Q3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "meteorin-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q641Q3-1", "PR:Q641Q3-1", "ENSEMBL:ENSP00000315731", "ENSEMBL:ENSP00000315731.6", "ENSEMBL:ENSP00000488860", "ENSEMBL:ENSP00000488860.1"], "information_content": 100.0}
{"id": "UniProtKB:Q16589-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-G2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16589-1", "PR:Q16589-1", "ENSEMBL:ENSP00000315743", "ENSEMBL:ENSP00000315743.5", "ENSEMBL:ENSP00000379002", "ENSEMBL:ENSP00000379002.1", "ENSEMBL:ENSP00000424665", "ENSEMBL:ENSP00000424665.1"], "information_content": 100.0}
{"id": "UniProtKB:P52630-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal transducer and activator of transcription 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P52630-3", "PR:P52630-3", "ENSEMBL:ENSP00000315768", "ENSEMBL:ENSP00000315768.4", "ENSEMBL:ENSP00000513599", "ENSEMBL:ENSP00000513599.1"], "information_content": 95.4}
{"id": "NCBIGene:4728", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFS8", "equivalent_identifiers": ["NCBIGene:4728", "ENSEMBL:ENSG00000110717", "HGNC:7715", "OMIM:602141", "UMLS:C1417651", "UniProtKB:O00217", "PR:O00217", "ENSEMBL:ENSP00000315774", "ENSEMBL:ENSP00000315774.5", "UMLS:C1431442", "MESH:C113982"], "information_content": 92.8}
{"id": "NCBIGene:25839", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COG4", "equivalent_identifiers": ["NCBIGene:25839", "ENSEMBL:ENSG00000103051", "HGNC:18620", "OMIM:606976", "UMLS:C1425652", "UniProtKB:A0A0A0MS45", "ENSEMBL:ENSP00000377236", "ENSEMBL:ENSP00000377236.5", "UMLS:C2717441", "MESH:C542474", "UniProtKB:A0A6I8PIQ6", "ENSEMBL:ENSP00000501405", "ENSEMBL:ENSP00000501405.1", "UniProtKB:J3KNI1", "ENSEMBL:ENSP00000315775", "ENSEMBL:ENSP00000315775.5", "UniProtKB:Q8N8L9", "UniProtKB:Q9H9E3", "PR:Q9H9E3"]}
{"id": "UniProtKB:Q12996-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cleavage stimulation factor subunit 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q12996-1", "PR:Q12996-1", "ENSEMBL:ENSP00000315791", "ENSEMBL:ENSP00000315791.4"], "information_content": 95.4}
{"id": "NCBIGene:284346", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF575", "equivalent_identifiers": ["NCBIGene:284346", "ENSEMBL:ENSG00000176472", "HGNC:27606", "UMLS:C1428656", "UniProtKB:Q86XF7", "PR:Q86XF7", "ENSEMBL:ENSP00000315870", "ENSEMBL:ENSP00000315870.4", "ENSEMBL:ENSP00000471083", "ENSEMBL:ENSP00000471083.2", "ENSEMBL:ENSP00000472578", "ENSEMBL:ENSP00000472578.1", "UMLS:C5391248", "MESH:C000656528"], "information_content": 100.0}
{"id": "NCBIGene:389289", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANXA2R", "equivalent_identifiers": ["NCBIGene:389289", "ENSEMBL:ENSG00000177721", "HGNC:33463", "OMIM:611296", "UMLS:C1969797", "UniProtKB:Q3ZCQ2", "PR:Q3ZCQ2", "ENSEMBL:ENSP00000315915", "ENSEMBL:ENSP00000315915.3", "ENSEMBL:ENSP00000479862", "ENSEMBL:ENSP00000479862.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96HN2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenosylhomocysteinase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HN2-1", "PR:Q96HN2-1", "ENSEMBL:ENSP00000315931", "ENSEMBL:ENSP00000315931.3"], "information_content": 100.0}
{"id": "UniProtKB:P13378-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Hox-D8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13378-1", "PR:P13378-1", "ENSEMBL:ENSP00000315949", "ENSEMBL:ENSP00000315949.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6NUT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable C-mannosyltransferase DPY19L2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NUT2-1", "PR:Q6NUT2-1", "ENSEMBL:ENSP00000315988", "ENSEMBL:ENSP00000315988.4"], "information_content": 100.0}
{"id": "NCBIGene:10859", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LILRB1", "equivalent_identifiers": ["NCBIGene:10859", "ENSEMBL:ENSG00000104972", "HGNC:6605", "OMIM:604811", "UMLS:C1416857", "UniProtKB:A0A087WSV6", "ENSEMBL:ENSP00000315997", "ENSEMBL:ENSP00000315997.7", "ENSEMBL:ENSP00000379608", "ENSEMBL:ENSP00000379608.1", "UniProtKB:A0A087WSX8", "ENSEMBL:ENSP00000379618", "ENSEMBL:ENSP00000379618.3", "UniProtKB:A0A0B4J1W1", "ENSEMBL:ENSP00000379622", "ENSEMBL:ENSP00000379622.1", "UniProtKB:A0A0G2JNM2", "ENSEMBL:ENSP00000481701", "ENSEMBL:ENSP00000481701.1", "UniProtKB:A0A0G2JP64", "ENSEMBL:ENSP00000482978", "ENSEMBL:ENSP00000482978.1", "UniProtKB:A0A0G2JQ15", "ENSEMBL:ENSP00000484746", "ENSEMBL:ENSP00000484746.1", "UniProtKB:A8MVE2", "ENSEMBL:ENSP00000379610", "ENSEMBL:ENSP00000379610.1", "UniProtKB:D9IDM5", "ENSEMBL:ENSP00000379623", "ENSEMBL:ENSP00000379623.4", "UniProtKB:Q8NHL6", "PR:Q8NHL6", "ENSEMBL:ENSP00000481700", "ENSEMBL:ENSP00000481700.1", "UMLS:C1741325", "MESH:C105299"]}
{"id": "NCBIGene:653423", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPAG11A", "equivalent_identifiers": ["NCBIGene:653423", "ENSEMBL:ENSG00000178287", "HGNC:33342", "UMLS:C2240039", "UniProtKB:A0A0A0MR37", "ENSEMBL:ENSP00000316012", "ENSEMBL:ENSP00000316012.5", "ENSEMBL:ENSP00000495748", "ENSEMBL:ENSP00000495748.1", "UMLS:C1174132", "MESH:C087044", "UniProtKB:A0A2R8Y853", "ENSEMBL:ENSP00000496500", "ENSEMBL:ENSP00000496500.1", "UniProtKB:A0AAG2UXL4", "ENSEMBL:ENSP00000518736", "ENSEMBL:ENSP00000518736.1", "UniProtKB:C9IZU7", "ENSEMBL:ENSP00000316648", "ENSEMBL:ENSP00000316648.5", "UniProtKB:J3KR45", "ENSEMBL:ENSP00000416991", "ENSEMBL:ENSP00000416991.2", "ENSEMBL:ENSP00000518395", "ENSEMBL:ENSP00000518395.1"]}
{"id": "MONDO:0001852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "small intestine lymphoma", "equivalent_identifiers": ["MONDO:0001852", "DOID:13996", "UMLS:C0278805", "NCIT:C4007", "SNOMEDCT:449074003", "medgen:82986"], "information_content": 80.6}
{"id": "UniProtKB:Q9Y490-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "talin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y490-1", "PR:Q9Y490-1", "ENSEMBL:ENSP00000316029", "ENSEMBL:ENSP00000316029.9"], "information_content": 100.0}
{"id": "UniProtKB:P52948-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear pore complex protein Nup98-Nup96 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P52948-5", "PR:P52948-5", "ENSEMBL:ENSP00000316032", "ENSEMBL:ENSP00000316032.7"], "information_content": 100.0}
{"id": "NCBIGene:10949", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HNRNPA0", "equivalent_identifiers": ["NCBIGene:10949", "ENSEMBL:ENSG00000177733", "HGNC:5030", "OMIM:609409", "UMLS:C1415633", "UniProtKB:Q13151", "PR:Q13151", "ENSEMBL:ENSP00000316042", "ENSEMBL:ENSP00000316042.4", "UMLS:C4044786", "MESH:C000596429"], "information_content": 90.9}
{"id": "UniProtKB:Q92997-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "segment polarity protein dishevelled homolog DVL-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92997-1", "PR:Q92997-1", "ENSEMBL:ENSP00000316054", "ENSEMBL:ENSP00000316054.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N302-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "angiogenic factor with G patch and FHA domains 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N302-1", "PR:Q8N302-1", "ENSEMBL:ENSP00000316109", "ENSEMBL:ENSP00000316109.7"], "information_content": 100.0}
{"id": "MONDO:0010842", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple cutaneous and mucosal venous malformations", "equivalent_identifiers": ["MONDO:0010842", "DOID:0050792", "OMIM:600195", "orphanet:2451", "UMLS:C1838437", "MESH:C563977", "SNOMEDCT:699301008", "medgen:325026"], "information_content": 100.0}
{"id": "MONDO:0003713", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiokeratoma circumscriptum", "equivalent_identifiers": ["MONDO:0003713", "DOID:5949", "UMLS:C0263638", "NCIT:C7751", "SNOMEDCT:21848000", "medgen:120485", "icd11.foundation:225334653", "HP:0034408"], "information_content": 100.0}
{"id": "NCBIGene:112869", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SGF29", "equivalent_identifiers": ["NCBIGene:112869", "ENSEMBL:ENSG00000176476", "HGNC:25156", "OMIM:613374", "UMLS:C1824628", "UniProtKB:Q96ES7", "PR:Q96ES7", "ENSEMBL:ENSP00000316114", "ENSEMBL:ENSP00000316114.3"], "information_content": 89.4}
{"id": "UniProtKB:Q8N205-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nesprin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N205-1", "PR:Q8N205-1", "ENSEMBL:ENSP00000316130", "ENSEMBL:ENSP00000316130.3"], "information_content": 100.0}
{"id": "NCBIGene:51233", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRICH1", "equivalent_identifiers": ["NCBIGene:51233", "ENSEMBL:ENSG00000189269", "HGNC:28031", "UMLS:C3815436", "UniProtKB:Q6PGQ1", "PR:Q6PGQ1", "ENSEMBL:ENSP00000316137", "ENSEMBL:ENSP00000316137.5"], "information_content": 100.0}
{"id": "UniProtKB:P11686-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "surfactant protein C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11686-1", "PR:P11686-1", "ENSEMBL:ENSP00000316152", "ENSEMBL:ENSP00000316152.3"], "information_content": 100.0}
{"id": "MONDO:0002732", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung benign neoplasm", "equivalent_identifiers": ["MONDO:0002732", "DOID:3683", "UMLS:C0345963", "MEDDRA:10004280", "NCIT:C4454", "SNOMEDCT:92196005", "medgen:83393"], "information_content": 77.8}
{"id": "NCBIGene:84002", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B3GNT5", "equivalent_identifiers": ["NCBIGene:84002", "ENSEMBL:ENSG00000176597", "HGNC:15684", "OMIM:615333", "UMLS:C1423656", "UniProtKB:Q9BYG0", "PR:Q9BYG0", "ENSEMBL:ENSP00000316173", "ENSEMBL:ENSP00000316173.3", "ENSEMBL:ENSP00000417868", "ENSEMBL:ENSP00000417868.1", "ENSEMBL:ENSP00000420778", "ENSEMBL:ENSP00000420778.1", "UMLS:C5565420", "MESH:C000719150"], "information_content": 100.0}
{"id": "NCBIGene:7334", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2N", "equivalent_identifiers": ["NCBIGene:7334", "ENSEMBL:ENSG00000177889", "HGNC:12492", "OMIM:603679", "UMLS:C1421290", "UniProtKB:P61088", "PR:P61088", "ENSEMBL:ENSP00000316176", "ENSEMBL:ENSP00000316176.2", "UMLS:C1174531", "MESH:C471607", "UniProtKB:V9HW41"], "information_content": 92.8}
{"id": "UniProtKB:Q9H2X3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 4 member M isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2X3-1", "PR:Q9H2X3-1", "ENSEMBL:ENSP00000316228", "ENSEMBL:ENSP00000316228.4"], "information_content": 100.0}
{"id": "NCBIGene:3350", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTR1A", "equivalent_identifiers": ["NCBIGene:3350", "ENSEMBL:ENSG00000178394", "HGNC:5286", "OMIM:109760", "UMLS:C1415803", "UniProtKB:A8K5W4", "UniProtKB:P08908", "PR:P08908", "ENSEMBL:ENSP00000316244", "ENSEMBL:ENSP00000316244.4", "UMLS:C3712806", "MESH:C583518", "UniProtKB:Q5ZGX3"], "information_content": 95.4}
{"id": "UniProtKB:Q86SK9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stearoyl-CoA desaturase 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86SK9-1", "PR:Q86SK9-1", "ENSEMBL:ENSP00000316329", "ENSEMBL:ENSP00000316329.4"], "information_content": 100.0}
{"id": "NCBIGene:10667", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FARS2", "equivalent_identifiers": ["NCBIGene:10667", "ENSEMBL:ENSG00000145982", "HGNC:21062", "OMIM:611592", "UMLS:C1539476", "UniProtKB:O95363", "PR:O95363", "ENSEMBL:ENSP00000274680", "ENSEMBL:ENSP00000274680.4", "ENSEMBL:ENSP00000316335", "ENSEMBL:ENSP00000316335.5", "UMLS:C4307898", "MESH:C000611567"], "information_content": 92.8}
{"id": "UniProtKB:Q9UQB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BAR/IMD domain-containing adapter protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQB8-1", "PR:Q9UQB8-1", "ENSEMBL:ENSP00000316338", "ENSEMBL:ENSP00000316338.6"], "information_content": 100.0}
{"id": "UniProtKB:Q93008-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 9X isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q93008-3", "PR:Q93008-3", "ENSEMBL:ENSP00000316357", "ENSEMBL:ENSP00000316357.6"], "information_content": 100.0}
{"id": "UniProtKB:O14490-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disks large-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14490-1", "PR:O14490-1", "ENSEMBL:ENSP00000316377", "ENSEMBL:ENSP00000316377.3"], "information_content": 100.0}
{"id": "NCBIGene:1442", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSH1", "equivalent_identifiers": ["NCBIGene:1442", "ENSEMBL:ENSG00000136488", "HGNC:2440", "OMIM:150200", "UMLS:C1413752", "UniProtKB:A8K6C2", "UniProtKB:P0DML2", "PR:P0DML2", "ENSEMBL:ENSP00000316416", "ENSEMBL:ENSP00000316416.8"], "information_content": 95.4}
{"id": "UniProtKB:Q6VY07-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphofurin acidic cluster sorting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6VY07-1", "PR:Q6VY07-1", "ENSEMBL:ENSP00000316454", "ENSEMBL:ENSP00000316454.4"], "information_content": 100.0}
{"id": "NCBIGene:8560", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEGS1", "equivalent_identifiers": ["NCBIGene:8560", "ENSEMBL:ENSG00000143753", "HGNC:13709", "OMIM:615843", "UMLS:C1539265", "UniProtKB:O15121", "PR:O15121", "ENSEMBL:ENSP00000316476", "ENSEMBL:ENSP00000316476.4", "UMLS:C1257307", "MESH:C106615"], "information_content": 89.4}
{"id": "UniProtKB:Q9BQ13-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000316482", "equivalent_identifiers": ["UniProtKB:Q9BQ13-1", "ENSEMBL:ENSP00000316482", "ENSEMBL:ENSP00000316482.5"]}
{"id": "UniProtKB:Q8WWV6-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWV6-6", "PR:Q8WWV6-6", "ENSEMBL:ENSP00000316491", "ENSEMBL:ENSP00000316491.4"], "information_content": 100.0}
{"id": "NCBIGene:138009", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCAF4L2", "equivalent_identifiers": ["NCBIGene:138009", "ENSEMBL:ENSG00000176566", "HGNC:26657", "OMIM:620421", "UMLS:C1538077", "UniProtKB:Q8NA75", "PR:Q8NA75", "ENSEMBL:ENSP00000316496", "ENSEMBL:ENSP00000316496.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86UE8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase tousled-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UE8-1", "PR:Q86UE8-1", "ENSEMBL:ENSP00000316512", "ENSEMBL:ENSP00000316512.9"], "information_content": 100.0}
{"id": "UniProtKB:O15014-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 609 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15014-1", "PR:O15014-1", "ENSEMBL:ENSP00000316527", "ENSEMBL:ENSP00000316527.3"], "information_content": 100.0}
{"id": "UniProtKB:Q70E73-10", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-associated and pleckstrin homology domains-containing protein 1 isoform hRMO1-RAPH1 (human)", "equivalent_identifiers": ["UniProtKB:Q70E73-10", "PR:Q70E73-10", "ENSEMBL:ENSP00000316543", "ENSEMBL:ENSP00000316543.5"], "information_content": 100.0}
{"id": "NCBIGene:23512", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUZ12", "equivalent_identifiers": ["NCBIGene:23512", "ENSEMBL:ENSG00000178691", "HGNC:17101", "OMIM:606245", "UMLS:C1539902", "UniProtKB:J3QQW9", "ENSEMBL:ENSP00000463936", "ENSEMBL:ENSP00000463936.1", "UMLS:C1432179", "MESH:C430461", "UniProtKB:Q15022", "PR:Q15022", "ENSEMBL:ENSP00000316578", "ENSEMBL:ENSP00000316578.5", "UMLS:C2347620"], "information_content": 90.9}
{"id": "UniProtKB:Q6VN20-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ran-binding protein 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6VN20-1", "PR:Q6VN20-1", "ENSEMBL:ENSP00000316589", "ENSEMBL:ENSP00000316589.3"], "information_content": 100.0}
{"id": "NCBIGene:8225", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GTPBP6", "equivalent_identifiers": ["NCBIGene:8225", "ENSEMBL:ENSG00000178605", "HGNC:30189", "OMIM:300124", "UMLS:C1539624", "UniProtKB:O43824", "PR:O43824", "ENSEMBL:ENSP00000316598", "ENSEMBL:ENSP00000316598.5", "ENSEMBL:ENSP00000518626", "ENSEMBL:ENSP00000518626.1", "ENSEMBL:ENSP00000520879", "ENSEMBL:ENSP00000520879.1", "ENSEMBL:ENSP00000520931", "ENSEMBL:ENSP00000520931.1", "UMLS:C0673054", "MESH:C111396"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic nucleotide-gated channel beta-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQW8-1", "PR:Q9NQW8-1", "ENSEMBL:ENSP00000316605", "ENSEMBL:ENSP00000316605.5"], "information_content": 100.0}
{"id": "NCBIGene:220441", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF152", "equivalent_identifiers": ["NCBIGene:220441", "ENSEMBL:ENSG00000176641", "HGNC:26811", "OMIM:616512", "UMLS:C1428625", "UniProtKB:Q8N8N0", "PR:Q8N8N0", "ENSEMBL:ENSP00000316628", "ENSEMBL:ENSP00000316628.3", "UMLS:C3181241", "MESH:C558222"], "information_content": 95.4}
{"id": "UniProtKB:Q9H1P3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxysterol-binding protein-related protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1P3-1", "PR:Q9H1P3-1", "ENSEMBL:ENSP00000316649", "ENSEMBL:ENSP00000316649.3", "ENSEMBL:ENSP00000494549", "ENSEMBL:ENSP00000494549.1", "ENSEMBL:ENSP00000495379", "ENSEMBL:ENSP00000495379.1"], "information_content": 100.0}
{"id": "NCBIGene:284382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTL9", "equivalent_identifiers": ["NCBIGene:284382", "ENSEMBL:ENSG00000181786", "HGNC:28494", "OMIM:619251", "UMLS:C2829488", "UniProtKB:Q8TC94", "PR:Q8TC94", "ENSEMBL:ENSP00000316674", "ENSEMBL:ENSP00000316674.3", "UMLS:C4077517", "MESH:C000603397"], "information_content": 100.0}
{"id": "MONDO:0007810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant ichthyosis vulgaris", "equivalent_identifiers": ["MONDO:0007810", "DOID:1702", "OMIM:146700", "UMLS:C0432300", "SNOMEDCT:254157005", "SNOMEDCT:254158000", "medgen:609440", "ICD10:Q80.0"], "information_content": 92.8}
{"id": "NCBIGene:79037", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PVRIG", "equivalent_identifiers": ["NCBIGene:79037", "ENSEMBL:ENSG00000213413", "HGNC:32190", "OMIM:617012", "UMLS:C1826741", "UniProtKB:A0A8V8TN58", "ENSEMBL:ENSP00000514123", "ENSEMBL:ENSP00000514123.1", "UniProtKB:Q6DKI7", "PR:Q6DKI7", "ENSEMBL:ENSP00000316675", "ENSEMBL:ENSP00000316675.2", "UMLS:C4276443", "UMLS:C4723729", "MESH:C000609742"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0D2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 295 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0D2-1", "PR:Q9C0D2-1", "ENSEMBL:ENSP00000316681", "ENSEMBL:ENSP00000316681.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9H4E5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho-related GTP-binding protein RhoJ isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4E5-1", "PR:Q9H4E5-1", "ENSEMBL:ENSP00000316729", "ENSEMBL:ENSP00000316729.3"], "information_content": 100.0}
{"id": "NCBIGene:353134", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCE1D", "equivalent_identifiers": ["NCBIGene:353134", "ENSEMBL:ENSG00000172155", "HGNC:29465", "OMIM:612606", "UMLS:C1537533", "UniProtKB:Q5T752", "PR:Q5T752", "ENSEMBL:ENSP00000316737", "ENSEMBL:ENSP00000316737.6"], "information_content": 100.0}
{"id": "MONDO:0014622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated focal non-epidermolytic palmoplantar keratoderma", "equivalent_identifiers": ["MONDO:0014622", "DOID:0111708", "DOID:0111711", "OMIM:616400", "orphanet:448264", "UMLS:C4225339", "medgen:895056"], "information_content": 100.0}
{"id": "UniProtKB:Q6UE05-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 270 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UE05-1", "PR:Q6UE05-1", "ENSEMBL:ENSP00000316775", "ENSEMBL:ENSP00000316775.2"], "information_content": 100.0}
{"id": "UniProtKB:O00499-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Myc box-dependent-interacting protein 1 isoform IIA (human)", "equivalent_identifiers": ["UniProtKB:O00499-1", "PR:O00499-1", "ENSEMBL:ENSP00000316779", "ENSEMBL:ENSP00000316779.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9H094-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NBPF family member NBPF3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H094-1", "PR:Q9H094-1", "ENSEMBL:ENSP00000316782", "ENSEMBL:ENSP00000316782.5"], "information_content": 100.0}
{"id": "NCBIGene:3291", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSD11B2", "equivalent_identifiers": ["NCBIGene:3291", "ENSEMBL:ENSG00000176387", "HGNC:5209", "OMIM:614232", "UMLS:C1415737", "UniProtKB:P80365", "PR:P80365", "ENSEMBL:ENSP00000316786", "ENSEMBL:ENSP00000316786.5", "UMLS:C1143944", "MESH:C468387"], "information_content": 100.0}
{"id": "NCBIGene:5306", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PITPNA", "equivalent_identifiers": ["NCBIGene:5306", "ENSEMBL:ENSG00000174238", "HGNC:9001", "OMIM:600174", "UMLS:C1538651", "UniProtKB:B4E1U1", "UniProtKB:Q00169", "PR:Q00169", "ENSEMBL:ENSP00000316809", "ENSEMBL:ENSP00000316809.7", "UMLS:C1529258", "MESH:C493463", "UniProtKB:V9HWC5"], "information_content": 95.4}
{"id": "NCBIGene:147912", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIX5", "equivalent_identifiers": ["NCBIGene:147912", "ENSEMBL:ENSG00000177045", "HGNC:10891", "OMIM:600963", "UMLS:C1420076", "UniProtKB:Q8N196", "PR:Q8N196", "ENSEMBL:ENSP00000316842", "ENSEMBL:ENSP00000316842.4", "UMLS:C0540440", "UMLS:C3816455", "MESH:C106687"], "information_content": 100.0}
{"id": "UniProtKB:Q9NR80-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR80-1", "PR:Q9NR80-1", "ENSEMBL:ENSP00000316845", "ENSEMBL:ENSP00000316845.5"], "information_content": 100.0}
{"id": "UniProtKB:Q13491-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal membrane glycoprotein M6-b isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q13491-4", "PR:Q13491-4", "ENSEMBL:ENSP00000316861", "ENSEMBL:ENSP00000316861.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVL5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prolyl 3-hydroxylase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVL5-1", "PR:Q8IVL5-1", "ENSEMBL:ENSP00000316881", "ENSEMBL:ENSP00000316881.5"], "information_content": 100.0}
{"id": "NCBIGene:94081", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SFXN1", "equivalent_identifiers": ["NCBIGene:94081", "ENSEMBL:ENSG00000164466", "HGNC:16085", "OMIM:615569", "UMLS:C1423966", "UniProtKB:Q9H9B4", "PR:Q9H9B4", "ENSEMBL:ENSP00000316905", "ENSEMBL:ENSP00000316905.5"], "information_content": 95.4}
{"id": "UniProtKB:Q8NDX2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vesicular glutamate transporter 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDX2-1", "PR:Q8NDX2-1", "ENSEMBL:ENSP00000316909", "ENSEMBL:ENSP00000316909.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUB1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetyl-coenzyme A synthetase 2-like, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUB1-1", "PR:Q9NUB1-1", "ENSEMBL:ENSP00000316924", "ENSEMBL:ENSP00000316924.4"], "information_content": 100.0}
{"id": "NCBIGene:203562", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM31", "equivalent_identifiers": ["NCBIGene:203562", "ENSEMBL:ENSG00000179363", "HGNC:28601", "OMIM:301102", "UMLS:C1540002", "UniProtKB:A0A140VK58", "UniProtKB:Q5JXX7", "PR:Q5JXX7", "ENSEMBL:ENSP00000316940", "ENSEMBL:ENSP00000316940.6"], "information_content": 100.0}
{"id": "NCBIGene:57396", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLK4", "equivalent_identifiers": ["NCBIGene:57396", "ENSEMBL:ENSG00000113240", "HGNC:13659", "OMIM:607969", "UMLS:C1422133", "UniProtKB:Q9HAZ1", "PR:Q9HAZ1", "ENSEMBL:ENSP00000316948", "ENSEMBL:ENSP00000316948.4", "UMLS:C5961277"], "information_content": 92.8}
{"id": "UniProtKB:A0A0A0MR39", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A0A0MR39_HUMAN Myelin expression factor 2 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A0A0MR39", "ENSEMBL:ENSP00000316950", "ENSEMBL:ENSP00000316950.7"]}
{"id": "UniProtKB:Q9BZW5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane 6 superfamily member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZW5-1", "PR:Q9BZW5-1", "ENSEMBL:ENSP00000317000", "ENSEMBL:ENSP00000317000.9"], "information_content": 100.0}
{"id": "NCBIGene:80010", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RMI1", "equivalent_identifiers": ["NCBIGene:80010", "ENSEMBL:ENSG00000178966", "HGNC:25764", "OMIM:610404", "UMLS:C1835856", "UniProtKB:Q9H9A7", "PR:Q9H9A7", "ENSEMBL:ENSP00000317039", "ENSEMBL:ENSP00000317039.3", "ENSEMBL:ENSP00000402433", "ENSEMBL:ENSP00000402433.2", "UMLS:C1570370", "MESH:C501527"], "information_content": 95.4}
{"id": "UniProtKB:O75643-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U5 small nuclear ribonucleoprotein 200 kDa helicase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75643-1", "PR:O75643-1", "ENSEMBL:ENSP00000317123", "ENSEMBL:ENSP00000317123.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4D7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plexin-D1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4D7-1", "PR:Q9Y4D7-1", "ENSEMBL:ENSP00000317128", "ENSEMBL:ENSP00000317128.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXW3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "progesterone-induced-blocking factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXW3-1", "PR:Q8WXW3-1", "ENSEMBL:ENSP00000317144", "ENSEMBL:ENSP00000317144.6"], "information_content": 100.0}
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{"id": "NCBIGene:400224", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLEKHD1", "equivalent_identifiers": ["NCBIGene:400224", "ENSEMBL:ENSG00000175985", "HGNC:20148", "UMLS:C1426732", "UniProtKB:A6NEE1", "PR:A6NEE1", "ENSEMBL:ENSP00000317175", "ENSEMBL:ENSP00000317175.7"], "information_content": 100.0}
{"id": "NCBIGene:201164", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLD6", "equivalent_identifiers": ["NCBIGene:201164", "ENSEMBL:ENSG00000179598", "HGNC:30447", "OMIM:614960", "UMLS:C2678560", "UniProtKB:Q8N2A8", "PR:Q8N2A8", "ENSEMBL:ENSP00000317177", "ENSEMBL:ENSP00000317177.3"], "information_content": 100.0}
{"id": "NCBIGene:827", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAPN6", "equivalent_identifiers": ["NCBIGene:827", "ENSEMBL:ENSG00000077274", "HGNC:1483", "OMIM:300146", "UMLS:C1413116", "UniProtKB:Q9Y6Q1", "PR:Q9Y6Q1", "ENSEMBL:ENSP00000317214", "ENSEMBL:ENSP00000317214.1", "UMLS:C4549044", "MESH:C000622728"], "information_content": 92.8}
{"id": "NCBIGene:55095", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAMD4B", "equivalent_identifiers": ["NCBIGene:55095", "ENSEMBL:ENSG00000179134", "HGNC:25492", "OMIM:619231", "UMLS:C1826969", "UniProtKB:M0QZ22", "ENSEMBL:ENSP00000470237", "ENSEMBL:ENSP00000470237.1", "UMLS:C2973882", "MESH:C551897", "UniProtKB:Q5PRF9", "PR:Q5PRF9", "ENSEMBL:ENSP00000317224", "ENSEMBL:ENSP00000317224.5", "ENSEMBL:ENSP00000484229", "ENSEMBL:ENSP00000484229.1", "UniProtKB:Q66K25", "UniProtKB:Q8IXP7"], "information_content": 95.4}
{"id": "MONDO:0012453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 31", "equivalent_identifiers": ["MONDO:0012453", "DOID:0110782", "OMIM:610250", "orphanet:101011", "UMLS:C1853247", "MESH:C565210", "NCIT:C189921", "SNOMEDCT:763068005", "medgen:377858"], "information_content": 100.0}
{"id": "UniProtKB:Q96AY3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidyl-prolyl cis-trans isomerase FKBP10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AY3-1", "PR:Q96AY3-1", "ENSEMBL:ENSP00000317232", "ENSEMBL:ENSP00000317232.4"], "information_content": 100.0}
{"id": "MONDO:0024507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniridia 1", "equivalent_identifiers": ["MONDO:0024507", "DOID:0070532", "OMIM:106210", "UMLS:C0344542", "UMLS:C3805349", "SNOMEDCT:253231007", "medgen:576337"], "information_content": 100.0}
{"id": "NCBIGene:8904", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPNE1", "equivalent_identifiers": ["NCBIGene:8904", "ENSEMBL:ENSG00000214078", "HGNC:2314", "OMIM:604205", "UMLS:C1413675", "UniProtKB:B0QZ18", "ENSEMBL:ENSP00000317257", "ENSEMBL:ENSP00000317257.5", "UMLS:C4548148", "MESH:C000622750", "UniProtKB:Q99829", "PR:Q99829", "ENSEMBL:ENSP00000336945", "ENSEMBL:ENSP00000336945.4", "ENSEMBL:ENSP00000380585", "ENSEMBL:ENSP00000380585.1", "UMLS:C3812672"]}
{"id": "UniProtKB:P08581-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hepatocyte growth factor receptor isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P08581-2", "PR:P08581-2", "ENSEMBL:ENSP00000317272", "ENSEMBL:ENSP00000317272.6"], "information_content": 100.0}
{"id": "NCBIGene:254531", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LPCAT4", "equivalent_identifiers": ["NCBIGene:254531", "ENSEMBL:ENSG00000176454", "HGNC:30059", "OMIM:612039", "UMLS:C1826613", "UniProtKB:Q643R3", "PR:Q643R3", "ENSEMBL:ENSP00000317300", "ENSEMBL:ENSP00000317300.6", "ENSEMBL:ENSP00000517730", "ENSEMBL:ENSP00000517730.1", "UMLS:C1700342", "MESH:C508935"], "information_content": 92.8}
{"id": "UniProtKB:Q9NZU7-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-binding protein 1 isoform Caldendrin (human)", "equivalent_identifiers": ["UniProtKB:Q9NZU7-4", "PR:Q9NZU7-4", "ENSEMBL:ENSP00000317310", "ENSEMBL:ENSP00000317310.3"], "information_content": 100.0}
{"id": "UniProtKB:P57075-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-associated and SH3 domain-containing protein A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P57075-1", "PR:P57075-1", "ENSEMBL:ENSP00000317327", "ENSEMBL:ENSP00000317327.6"], "information_content": 100.0}
{"id": "MONDO:0001634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bladder leiomyoma", "equivalent_identifiers": ["MONDO:0001634", "DOID:13109", "UMLS:C1332560", "MEDDRA:10066276", "NCIT:C6178", "medgen:272371"], "information_content": 95.4}
{"id": "NCBIGene:6748", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSR4", "equivalent_identifiers": ["NCBIGene:6748", "ENSEMBL:ENSG00000180879", "HGNC:11326", "OMIM:300090", "UMLS:C1420431", "UniProtKB:P51571", "PR:P51571", "ENSEMBL:ENSP00000317331", "ENSEMBL:ENSP00000317331.3", "ENSEMBL:ENSP00000359103", "ENSEMBL:ENSP00000359103.3", "ENSEMBL:ENSP00000359104", "ENSEMBL:ENSP00000359104.1", "UMLS:C1505382"], "information_content": 88.2}
{"id": "NCBIGene:63973", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEUROG2", "equivalent_identifiers": ["NCBIGene:63973", "ENSEMBL:ENSG00000178403", "HGNC:13805", "OMIM:606624", "UMLS:C1422204", "UniProtKB:Q9H2A3", "PR:Q9H2A3", "ENSEMBL:ENSP00000317333", "ENSEMBL:ENSP00000317333.3", "UMLS:C1505697", "MESH:C491183"], "information_content": 100.0}
{"id": "NCBIGene:6950", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCP1", "equivalent_identifiers": ["NCBIGene:6950", "ENSEMBL:ENSG00000120438", "HGNC:11655", "OMIM:186980", "UMLS:C1420655", "UniProtKB:E7EQR6", "ENSEMBL:ENSP00000376008", "ENSEMBL:ENSP00000376008.2", "UMLS:C2605467", "MESH:C533304", "UniProtKB:P17987", "PR:P17987", "ENSEMBL:ENSP00000317334", "ENSEMBL:ENSP00000317334.7"], "information_content": 86.3}
{"id": "UniProtKB:P82912-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ribosomal subunit protein uS11m isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P82912-1", "PR:P82912-1", "ENSEMBL:ENSP00000317376", "ENSEMBL:ENSP00000317376.4"], "information_content": 100.0}
{"id": "UniProtKB:O94925-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutaminase kidney isoform, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94925-1", "PR:O94925-1", "ENSEMBL:ENSP00000317379", "ENSEMBL:ENSP00000317379.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6YBV0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neutral amino acid uniporter 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6YBV0-1", "PR:Q6YBV0-1", "ENSEMBL:ENSP00000317382", "ENSEMBL:ENSP00000317382.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8NET6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carbohydrate sulfotransferase 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NET6-1", "PR:Q8NET6-1", "ENSEMBL:ENSP00000317404", "ENSEMBL:ENSP00000317404.2"], "information_content": 100.0}
{"id": "NCBIGene:285888", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNPY1", "equivalent_identifiers": ["NCBIGene:285888", "ENSEMBL:ENSG00000146910", "HGNC:27786", "OMIM:612493", "UMLS:C1824766", "UniProtKB:A0A1B0GVE0", "ENSEMBL:ENSP00000490060", "ENSEMBL:ENSP00000490060.1", "ENSEMBL:ENSP00000490477", "ENSEMBL:ENSP00000490477.3", "ENSEMBL:ENSP00000510525", "ENSEMBL:ENSP00000510525.1", "UniProtKB:Q3B7I2", "PR:Q3B7I2", "ENSEMBL:ENSP00000317439", "ENSEMBL:ENSP00000317439.5", "ENSEMBL:ENSP00000384514", "ENSEMBL:ENSP00000384514.1"], "information_content": 100.0}
{"id": "NCBIGene:768239", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSAPL1", "equivalent_identifiers": ["NCBIGene:768239", "ENSEMBL:ENSG00000178597", "HGNC:33131", "UMLS:C1826728", "UniProtKB:Q6NUJ1", "PR:Q6NUJ1", "ENSEMBL:ENSP00000317445", "ENSEMBL:ENSP00000317445.4"], "information_content": 100.0}
{"id": "NCBIGene:79643", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHMP6", "equivalent_identifiers": ["NCBIGene:79643", "ENSEMBL:ENSG00000176108", "HGNC:25675", "OMIM:610901", "UMLS:C1538461", "UniProtKB:Q96FZ7", "PR:Q96FZ7", "ENSEMBL:ENSP00000317468", "ENSEMBL:ENSP00000317468.5", "UMLS:C1434815", "MESH:C481528"], "information_content": 95.4}
{"id": "UniProtKB:Q8NFJ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BBSome complex member BBS1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFJ9-1", "PR:Q8NFJ9-1", "ENSEMBL:ENSP00000317469", "ENSEMBL:ENSP00000317469.7"], "information_content": 100.0}
{"id": "NCBIGene:5876", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RABGGTB", "equivalent_identifiers": ["NCBIGene:5876", "ENSEMBL:ENSG00000137955", "HGNC:9796", "OMIM:179080", "UMLS:C1419223", "UniProtKB:A8KAJ2", "UMLS:C5391421", "MESH:C000657424", "UniProtKB:P53611", "PR:P53611", "ENSEMBL:ENSP00000317473", "ENSEMBL:ENSP00000317473.3", "UniProtKB:Q6IB63"], "information_content": 89.4}
{"id": "NCBIGene:157", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRK3", "equivalent_identifiers": ["NCBIGene:157", "ENSEMBL:ENSG00000100077", "HGNC:290", "OMIM:109636", "UMLS:C1332030", "UniProtKB:P35626", "PR:P35626", "ENSEMBL:ENSP00000317578", "ENSEMBL:ENSP00000317578.4", "UMLS:C1505683", "MESH:C517848", "UniProtKB:Q8N433"], "information_content": 92.8}
{"id": "UniProtKB:Q96GQ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RUS family member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GQ5-1", "PR:Q96GQ5-1", "ENSEMBL:ENSP00000317579", "ENSEMBL:ENSP00000317579.2"], "information_content": 100.0}
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{"id": "NCBIGene:122664", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPPP2", "equivalent_identifiers": ["NCBIGene:122664", "ENSEMBL:ENSG00000179636", "HGNC:19293", "OMIM:616956", "UMLS:C1426147", "UniProtKB:P59282", "PR:P59282", "ENSEMBL:ENSP00000317595", "ENSEMBL:ENSP00000317595.6", "ENSEMBL:ENSP00000435356", "ENSEMBL:ENSP00000435356.2"], "information_content": 95.4}
{"id": "NCBIGene:85460", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF518B", "equivalent_identifiers": ["NCBIGene:85460", "ENSEMBL:ENSG00000178163", "HGNC:29365", "OMIM:617734", "UMLS:C2240211", "UniProtKB:Q9C0D4", "PR:Q9C0D4", "ENSEMBL:ENSP00000317614", "ENSEMBL:ENSP00000317614.3", "UMLS:C4276836", "MESH:C000608154"], "information_content": 89.4}
{"id": "UniProtKB:O94762-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent DNA helicase Q5 isoform Beta (human)", "equivalent_identifiers": ["UniProtKB:O94762-1", "PR:O94762-1", "ENSEMBL:ENSP00000317636", "ENSEMBL:ENSP00000317636.5"], "information_content": 100.0}
{"id": "UniProtKB:O14791-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apolipoprotein L1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O14791-2", "PR:O14791-2", "ENSEMBL:ENSP00000317674", "ENSEMBL:ENSP00000317674.4"], "information_content": 100.0}
{"id": "NCBIGene:132625", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFP42", "equivalent_identifiers": ["NCBIGene:132625", "ENSEMBL:ENSG00000179059", "HGNC:30949", "OMIM:614572", "UMLS:C1823950", "UniProtKB:Q96MM3", "PR:Q96MM3", "ENSEMBL:ENSP00000317686", "ENSEMBL:ENSP00000317686.4", "ENSEMBL:ENSP00000424662", "ENSEMBL:ENSP00000424662.1", "ENSEMBL:ENSP00000483363", "ENSEMBL:ENSP00000483363.1", "UMLS:C1701485", "UMLS:C2986627", "MESH:C507976"], "information_content": 100.0}
{"id": "NCBIGene:54913", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPP25", "equivalent_identifiers": ["NCBIGene:54913", "ENSEMBL:ENSG00000178718", "HGNC:30361", "OMIM:619235", "UMLS:C1428965", "UniProtKB:Q9BUL9", "PR:Q9BUL9", "ENSEMBL:ENSP00000317691", "ENSEMBL:ENSP00000317691.6", "UMLS:C1122673", "MESH:C455399"], "information_content": 95.4}
{"id": "UniProtKB:Q12846-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12846-1", "PR:Q12846-1", "ENSEMBL:ENSP00000317714", "ENSEMBL:ENSP00000317714.3"], "information_content": 100.0}
{"id": "NCBIGene:51268", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIPOX", "equivalent_identifiers": ["NCBIGene:51268", "ENSEMBL:ENSG00000179761", "HGNC:17804", "OMIM:616713", "UMLS:C1425088", "UniProtKB:Q9P0Z9", "PR:Q9P0Z9", "ENSEMBL:ENSP00000317721", "ENSEMBL:ENSP00000317721.4", "UMLS:C1434265", "MESH:C494349"], "information_content": 95.4}
{"id": "MONDO:0009945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyridoxine-dependent epilepsy", "equivalent_identifiers": ["MONDO:0009945", "DOID:0080768", "orphanet:3006", "UMLS:C1849508", "MESH:C536254", "SNOMEDCT:734434007", "medgen:340341"], "information_content": 92.8}
{"id": "NCBIGene:283254", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HARBI1", "equivalent_identifiers": ["NCBIGene:283254", "ENSEMBL:ENSG00000180423", "HGNC:26522", "OMIM:615086", "UMLS:C1824343", "UniProtKB:Q96MB7", "PR:Q96MB7", "ENSEMBL:ENSP00000317743", "ENSEMBL:ENSP00000317743.3", "UMLS:C2353025", "MESH:C528179"], "information_content": 92.8}
{"id": "MONDO:0032782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 63 with lymphoproliferation and autoimmunity", "equivalent_identifiers": ["MONDO:0032782", "DOID:0111997", "OMIM:618495", "UMLS:C5193126", "medgen:1682943"], "information_content": 100.0}
{"id": "NCBIGene:9377", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX5A", "equivalent_identifiers": ["NCBIGene:9377", "ENSEMBL:ENSG00000178741", "HGNC:2267", "OMIM:603773", "UMLS:C1413636", "UniProtKB:P20674", "PR:P20674", "ENSEMBL:ENSP00000317780", "ENSEMBL:ENSP00000317780.6", "ENSEMBL:ENSP00000456386", "ENSEMBL:ENSP00000456386.1", "UMLS:C3529978", "MESH:C576944"], "information_content": 90.9}
{"id": "NCBIGene:51332", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPTBN5", "equivalent_identifiers": ["NCBIGene:51332", "ENSEMBL:ENSG00000137877", "HGNC:15680", "OMIM:605916", "UMLS:C1423653", "UniProtKB:Q9NRC6", "PR:Q9NRC6", "ENSEMBL:ENSP00000317790", "ENSEMBL:ENSP00000317790.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5H7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH2 domain-containing protein 3C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5H7-1", "PR:Q8N5H7-1", "ENSEMBL:ENSP00000317817", "ENSEMBL:ENSP00000317817.8"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6E9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RBBP6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6E9-1", "PR:Q7Z6E9-1", "ENSEMBL:ENSP00000317872", "ENSEMBL:ENSP00000317872.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15025-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TNFAIP3-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15025-1", "PR:Q15025-1", "ENSEMBL:ENSP00000317891", "ENSEMBL:ENSP00000317891.7", "ENSEMBL:ENSP00000428187", "ENSEMBL:ENSP00000428187.1", "ENSEMBL:ENSP00000428404", "ENSEMBL:ENSP00000428404.2", "ENSEMBL:ENSP00000430279", "ENSEMBL:ENSP00000430279.2", "ENSEMBL:ENSP00000430760", "ENSEMBL:ENSP00000430760.1"], "information_content": 100.0}
{"id": "NCBIGene:126638", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPTN", "equivalent_identifiers": ["NCBIGene:126638", "ENSEMBL:ENSG00000215853", "HGNC:26809", "OMIM:613259", "UMLS:C1826941", "UniProtKB:Q6XPR3", "PR:Q6XPR3", "ENSEMBL:ENSP00000317895", "ENSEMBL:ENSP00000317895.3", "UMLS:C5197302", "MESH:C000631769"], "information_content": 100.0}
{"id": "UniProtKB:Q86XR8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 57 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XR8-1", "PR:Q86XR8-1", "ENSEMBL:ENSP00000317902", "ENSEMBL:ENSP00000317902.5"], "information_content": 100.0}
{"id": "UniProtKB:P13807-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycogen [starch] synthase, muscle isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13807-1", "PR:P13807-1", "ENSEMBL:ENSP00000317904", "ENSEMBL:ENSP00000317904.3"], "information_content": 100.0}
{"id": "NCBIGene:8411", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EEA1", "equivalent_identifiers": ["NCBIGene:8411", "ENSEMBL:ENSG00000102189", "HGNC:3185", "OMIM:605070", "UMLS:C1414266", "UniProtKB:Q15075", "PR:Q15075", "ENSEMBL:ENSP00000317955", "ENSEMBL:ENSP00000317955.8", "UMLS:C1741753"], "information_content": 90.9}
{"id": "UniProtKB:Q8N5D0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD and tetratricopeptide repeats protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5D0-1", "PR:Q8N5D0-1", "ENSEMBL:ENSP00000317971", "ENSEMBL:ENSP00000317971.3"], "information_content": 100.0}
{"id": "MONDO:0011629", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MOGS-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011629", "DOID:0070254", "OMIM:606056", "orphanet:79330", "UMLS:C1853736", "MESH:C565264", "SNOMEDCT:725028009", "medgen:342954"], "information_content": 100.0}
{"id": "NCBIGene:9475", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ROCK2", "equivalent_identifiers": ["NCBIGene:9475", "ENSEMBL:ENSG00000134318", "HGNC:10252", "OMIM:604002", "UMLS:C1419598", "UniProtKB:A0A2P9DU05", "UniProtKB:O75116", "PR:O75116", "ENSEMBL:ENSP00000317985", "ENSEMBL:ENSP00000317985.6", "UMLS:C1742459", "MESH:C515852", "UniProtKB:Q14DU5"], "information_content": 86.3}
{"id": "NCBIGene:26155", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOC2L", "equivalent_identifiers": ["NCBIGene:26155", "ENSEMBL:ENSG00000188976", "HGNC:24517", "OMIM:610770", "UMLS:C1826446", "UniProtKB:Q9Y3T9", "PR:Q9Y3T9", "ENSEMBL:ENSP00000317992", "ENSEMBL:ENSP00000317992.6", "UMLS:C1686910", "MESH:C507220"], "information_content": 86.3}
{"id": "UniProtKB:Q9NRD9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual oxidase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRD9-1", "PR:Q9NRD9-1", "ENSEMBL:ENSP00000317997", "ENSEMBL:ENSP00000317997.4", "ENSEMBL:ENSP00000373689", "ENSEMBL:ENSP00000373689.3"], "information_content": 100.0}
{"id": "NCBIGene:9897", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WASHC5", "equivalent_identifiers": ["NCBIGene:9897", "ENSEMBL:ENSG00000164961", "HGNC:28984", "OMIM:610657", "UMLS:C1825654", "UniProtKB:E7EQI7", "ENSEMBL:ENSP00000429676", "ENSEMBL:ENSP00000429676.1", "UniProtKB:Q12768", "PR:Q12768", "ENSEMBL:ENSP00000318016", "ENSEMBL:ENSP00000318016.7", "UMLS:C1872106", "MESH:C517003"], "information_content": 90.9}
{"id": "UniProtKB:Q3SX64-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein CIMAP1D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3SX64-1", "PR:Q3SX64-1", "ENSEMBL:ENSP00000318029", "ENSEMBL:ENSP00000318029.2"], "information_content": 100.0}
{"id": "UniProtKB:Q06889-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "early growth response protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q06889-1", "PR:Q06889-1", "ENSEMBL:ENSP00000318057", "ENSEMBL:ENSP00000318057.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQA5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone H4 transcription factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQA5-1", "PR:Q9BQA5-1", "ENSEMBL:ENSP00000318085", "ENSEMBL:ENSP00000318085.3"], "information_content": 100.0}
{"id": "MONDO:0008926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COFS syndrome", "equivalent_identifiers": ["MONDO:0008926", "DOID:0080910", "OMIM.PS:214150", "orphanet:1466", "UMLS:C5399761", "NCIT:C3817", "SNOMEDCT:41283003", "medgen:1762238"], "information_content": 85.5}
{"id": "UniProtKB:Q8IWC1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAP7 domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWC1-1", "PR:Q8IWC1-1", "ENSEMBL:ENSP00000318086", "ENSEMBL:ENSP00000318086.9"], "information_content": 100.0}
{"id": "UniProtKB:Q96GD3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polycomb protein SCMH1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GD3-1", "PR:Q96GD3-1", "ENSEMBL:ENSP00000318094", "ENSEMBL:ENSP00000318094.7"], "information_content": 100.0}
{"id": "NCBIGene:53842", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN22", "equivalent_identifiers": ["NCBIGene:53842", "ENSEMBL:ENSG00000177300", "HGNC:2044", "OMIM:620566", "UMLS:C1413472", "UniProtKB:Q8N7P3", "PR:Q8N7P3", "ENSEMBL:ENSP00000318113", "ENSEMBL:ENSP00000318113.5"], "information_content": 95.4}
{"id": "NCBIGene:55330", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BLOC1S4", "equivalent_identifiers": ["NCBIGene:55330", "ENSEMBL:ENSG00000186222", "HGNC:24206", "OMIM:605695", "UMLS:C1539116", "UniProtKB:Q9NUP1", "PR:Q9NUP1", "ENSEMBL:ENSP00000318128", "ENSEMBL:ENSP00000318128.3", "UMLS:C1259484", "MESH:C475463"], "information_content": 100.0}
{"id": "MONDO:0011015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 24", "equivalent_identifiers": ["MONDO:0011015", "DOID:0110257", "OMIM:601202", "UMLS:C1832609", "MESH:C537774", "medgen:371364"], "information_content": 100.0}
{"id": "NCBIGene:2529", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FUT7", "equivalent_identifiers": ["NCBIGene:2529", "ENSEMBL:ENSG00000180549", "HGNC:4018", "OMIM:602030", "UMLS:C1414868", "UniProtKB:Q11130", "PR:Q11130", "ENSEMBL:ENSP00000318142", "ENSEMBL:ENSP00000318142.6", "UMLS:C1610226", "MESH:C502597"], "information_content": 95.4}
{"id": "UniProtKB:Q9BZQ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ER degradation-enhancing alpha-mannosidase-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZQ6-1", "PR:Q9BZQ6-1", "ENSEMBL:ENSP00000318147", "ENSEMBL:ENSP00000318147.7"], "information_content": 100.0}
{"id": "NCBIGene:114932", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRFAP1L1", "equivalent_identifiers": ["NCBIGene:114932", "ENSEMBL:ENSG00000178988", "HGNC:28796", "UMLS:C1537938", "UniProtKB:A0A075DDR2", "UniProtKB:Q96HT8", "PR:Q96HT8", "ENSEMBL:ENSP00000318154", "ENSEMBL:ENSP00000318154.6"], "information_content": 100.0}
{"id": "MONDO:0011299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Huntington disease-like 1", "equivalent_identifiers": ["MONDO:0011299", "DOID:0090103", "OMIM:603218", "orphanet:157941", "UMLS:C1864112", "MESH:C566398", "SNOMEDCT:784371009", "medgen:355137", "ICD10:G10"], "information_content": 100.0}
{"id": "UniProtKB:Q13438-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein OS-9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13438-1", "PR:Q13438-1", "ENSEMBL:ENSP00000318165", "ENSEMBL:ENSP00000318165.7"], "information_content": 100.0}
{"id": "UniProtKB:O75569-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75569-1", "PR:O75569-1", "ENSEMBL:ENSP00000318176", "ENSEMBL:ENSP00000318176.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96I24-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "far upstream element-binding protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96I24-1", "PR:Q96I24-1", "ENSEMBL:ENSP00000318177", "ENSEMBL:ENSP00000318177.9"], "information_content": 100.0}
{"id": "NCBIGene:4691", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCL", "equivalent_identifiers": ["NCBIGene:4691", "ENSEMBL:ENSG00000115053", "HGNC:7667", "OMIM:164035", "UMLS:C1417613", "UniProtKB:B3KM80", "UniProtKB:P19338", "PR:P19338", "ENSEMBL:ENSP00000318195", "ENSEMBL:ENSP00000318195.4", "UMLS:C1451903", "MESH:C000728031"], "information_content": 87.2}
{"id": "NCBIGene:112714", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBA3E", "equivalent_identifiers": ["NCBIGene:112714", "ENSEMBL:ENSG00000152086", "HGNC:20765", "OMIM:619918", "UMLS:C2240134", "UniProtKB:A0AAG2UW83", "ENSEMBL:ENSP00000517877", "ENSEMBL:ENSP00000517877.1", "UniProtKB:Q6PEY2", "PR:Q6PEY2", "ENSEMBL:ENSP00000318197", "ENSEMBL:ENSP00000318197.7"], "information_content": 90.9}
{"id": "UniProtKB:Q96A83-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XXVI) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96A83-1", "PR:Q96A83-1", "ENSEMBL:ENSP00000318234", "ENSEMBL:ENSP00000318234.8"], "information_content": 100.0}
{"id": "MONDO:0005756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ethmoid sinusitis", "equivalent_identifiers": ["MONDO:0005756", "DOID:9507", "EFO:0007264", "UMLS:C0015029", "MESH:D015521", "MEDDRA:10072034", "MEDDRA:10072035", "NCIT:C34597", "SNOMEDCT:18643000", "medgen:5046"], "information_content": 92.8}
{"id": "MONDO:0004707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anal canal carcinoma in situ", "equivalent_identifiers": ["MONDO:0004707", "DOID:9087", "UMLS:C0154064", "UMLS:C2242854", "UMLS:C4521060", "MEDDRA:10002134", "MEDDRA:10002142", "MEDDRA:10007354", "MEDDRA:10007355", "NCIT:C157575", "NCIT:C7794", "SNOMEDCT:92531006", "SNOMEDCT:92537005", "medgen:412201", "ICD9:230.6"], "information_content": 95.4}
{"id": "UniProtKB:Q8WYN3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine/serine-rich nuclear protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYN3-1", "PR:Q8WYN3-1", "ENSEMBL:ENSP00000318258", "ENSEMBL:ENSP00000318258.7", "ENSEMBL:ENSP00000344042", "ENSEMBL:ENSP00000344042.4", "ENSEMBL:ENSP00000498841", "ENSEMBL:ENSP00000498841.1"], "information_content": 100.0}
{"id": "MONDO:0011458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 4", "equivalent_identifiers": ["MONDO:0011458", "DOID:0110332", "OMIM:604393", "UMLS:C1858386", "UMLS:C2751763", "UMLS:C2751764", "MESH:C565778", "medgen:346808"], "information_content": 100.0}
{"id": "UniProtKB:Q8N271-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prominin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N271-1", "PR:Q8N271-1", "ENSEMBL:ENSP00000318270", "ENSEMBL:ENSP00000318270.9", "ENSEMBL:ENSP00000318520", "ENSEMBL:ENSP00000318520.4", "ENSEMBL:ENSP00000385716", "ENSEMBL:ENSP00000385716.2", "ENSEMBL:ENSP00000517820", "ENSEMBL:ENSP00000517820.1", "ENSEMBL:ENSP00000517821", "ENSEMBL:ENSP00000517821.1", "ENSEMBL:ENSP00000517822", "ENSEMBL:ENSP00000517822.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y265-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RuvB-like 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y265-1", "PR:Q9Y265-1", "ENSEMBL:ENSP00000318297", "ENSEMBL:ENSP00000318297.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96IP4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "terminal nucleotidyltransferase 5A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96IP4-1", "PR:Q96IP4-1", "ENSEMBL:ENSP00000318298", "ENSEMBL:ENSP00000318298.6"], "information_content": 100.0}
{"id": "UniProtKB:P34949-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mannose-6-phosphate isomerase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P34949-1", "PR:P34949-1", "ENSEMBL:ENSP00000318318", "ENSEMBL:ENSP00000318318.6"], "information_content": 100.0}
{"id": "UniProtKB:P21953-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P21953-1", "PR:P21953-1", "ENSEMBL:ENSP00000318351", "ENSEMBL:ENSP00000318351.5", "ENSEMBL:ENSP00000348880", "ENSEMBL:ENSP00000348880.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96PS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aquaporin-10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PS8-1", "PR:Q96PS8-1", "ENSEMBL:ENSP00000318355", "ENSEMBL:ENSP00000318355.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N8E2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 513 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8E2-1", "PR:Q8N8E2-1", "ENSEMBL:ENSP00000318373", "ENSEMBL:ENSP00000318373.6"], "information_content": 100.0}
{"id": "MONDO:0014652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exudative vitreoretinopathy 6", "equivalent_identifiers": ["MONDO:0014652", "DOID:0111410", "OMIM:616468", "UMLS:C4225316", "medgen:902559"], "information_content": 100.0}
{"id": "MONDO:0019353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Stargardt disease", "equivalent_identifiers": ["MONDO:0019353", "DOID:0050817", "orphanet:827", "UMLS:C0271093", "MESH:D000080362", "MEDDRA:10062766", "NCIT:C85078", "SNOMEDCT:47673003", "SNOMEDCT:70099003", "medgen:75734", "icd11.foundation:1690038580"], "information_content": 90.9}
{"id": "UniProtKB:Q96PV6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukocyte receptor cluster member 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PV6-2", "PR:Q96PV6-2", "ENSEMBL:ENSP00000318374", "ENSEMBL:ENSP00000318374.5", "ENSEMBL:ENSP00000478337", "ENSEMBL:ENSP00000478337.1", "ENSEMBL:ENSP00000478975", "ENSEMBL:ENSP00000478975.1", "ENSEMBL:ENSP00000480663", "ENSEMBL:ENSP00000480663.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZA0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dyslexia-associated protein KIAA0319-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZA0-1", "PR:Q8IZA0-1", "ENSEMBL:ENSP00000318406", "ENSEMBL:ENSP00000318406.3", "ENSEMBL:ENSP00000395883", "ENSEMBL:ENSP00000395883.3", "ENSEMBL:ENSP00000419396", "ENSEMBL:ENSP00000419396.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NG48-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Lines homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NG48-1", "PR:Q8NG48-1", "ENSEMBL:ENSP00000318423", "ENSEMBL:ENSP00000318423.8"], "information_content": 100.0}
{"id": "UniProtKB:Q96M63-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "outer dynein arm-docking complex subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96M63-1", "PR:Q96M63-1", "ENSEMBL:ENSP00000318429", "ENSEMBL:ENSP00000318429.7"], "information_content": 100.0}
{"id": "NCBIGene:260436", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FDCSP", "equivalent_identifiers": ["NCBIGene:260436", "ENSEMBL:ENSG00000181617", "HGNC:19215", "OMIM:607241", "UMLS:C1426092", "UniProtKB:Q540F3", "UMLS:C1143611", "MESH:C465580", "UniProtKB:Q8NFU4", "PR:Q8NFU4", "ENSEMBL:ENSP00000318437", "ENSEMBL:ENSP00000318437.5"], "information_content": 89.4}
{"id": "UniProtKB:Q96TA2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent zinc metalloprotease YME1L1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96TA2-1", "PR:Q96TA2-1", "ENSEMBL:ENSP00000318480", "ENSEMBL:ENSP00000318480.3"], "information_content": 100.0}
{"id": "NCBIGene:8851", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDK5R1", "equivalent_identifiers": ["NCBIGene:8851", "ENSEMBL:ENSG00000176749", "HGNC:1775", "OMIM:603460", "UMLS:C1413285", "UniProtKB:Q15078", "PR:Q15078", "ENSEMBL:ENSP00000318486", "ENSEMBL:ENSP00000318486.3", "UMLS:C3640794", "UniProtKB:Q8N619"], "information_content": 89.4}
{"id": "UniProtKB:P56817-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-secretase 1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:P56817-1", "PR:P56817-1", "ENSEMBL:ENSP00000318585", "ENSEMBL:ENSP00000318585.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRG1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoribosyltransferase domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRG1-1", "PR:Q9NRG1-1", "ENSEMBL:ENSP00000318602", "ENSEMBL:ENSP00000318602.5"], "information_content": 100.0}
{"id": "MONDO:0001185", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dissociative amnesia", "equivalent_identifiers": ["MONDO:0001185", "DOID:11037", "UMLS:C0236795", "MEDDRA:10013461", "MEDDRA:10037186", "NCIT:C94328", "SNOMEDCT:84209002", "medgen:66743", "icd11.foundation:626975732", "ICD10:F44.0", "ICD9:300.12"], "information_content": 100.0}
{"id": "NCBIGene:84232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAF1", "equivalent_identifiers": ["NCBIGene:84232", "ENSEMBL:ENSG00000179632", "HGNC:24966", "OMIM:610210", "UMLS:C1825934", "UniProtKB:Q9H063", "PR:Q9H063", "ENSEMBL:ENSP00000318604", "ENSEMBL:ENSP00000318604.5", "ENSEMBL:ENSP00000436720", "ENSEMBL:ENSP00000436720.1", "ENSEMBL:ENSP00000520454", "ENSEMBL:ENSP00000520454.1", "UMLS:C1957808", "MESH:C520535"], "information_content": 92.8}
{"id": "UniProtKB:Q86YD5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "low-density lipoprotein receptor class A domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YD5-1", "PR:Q86YD5-1", "ENSEMBL:ENSP00000318607", "ENSEMBL:ENSP00000318607.5"], "information_content": 100.0}
{"id": "NCBIGene:375593", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM73", "equivalent_identifiers": ["NCBIGene:375593", "ENSEMBL:ENSG00000178809", "HGNC:18162", "OMIM:612549", "UMLS:C1823494", "UniProtKB:Q86UV7", "PR:Q86UV7", "ENSEMBL:ENSP00000318615", "ENSEMBL:ENSP00000318615.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 37A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEZ2-1", "PR:Q8NEZ2-1", "ENSEMBL:ENSP00000318629", "ENSEMBL:ENSP00000318629.4"], "information_content": 100.0}
{"id": "NCBIGene:387082", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUMO4", "equivalent_identifiers": ["NCBIGene:387082", "ENSEMBL:ENSG00000177688", "HGNC:21181", "OMIM:608829", "UMLS:C1539897", "UniProtKB:Q6EEV6", "PR:Q6EEV6", "ENSEMBL:ENSP00000318635", "ENSEMBL:ENSP00000318635.4", "UMLS:C1506216", "MESH:C489647"], "information_content": 92.8}
{"id": "UniProtKB:Q68E01-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrator complex subunit 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q68E01-2", "PR:Q68E01-2", "ENSEMBL:ENSP00000318641", "ENSEMBL:ENSP00000318641.2", "ENSEMBL:ENSP00000404290", "ENSEMBL:ENSP00000404290.2", "ENSEMBL:ENSP00000458631", "ENSEMBL:ENSP00000458631.1", "ENSEMBL:ENSP00000460221", "ENSEMBL:ENSP00000460221.1"], "information_content": 100.0}
{"id": "NCBIGene:6210", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS15A", "equivalent_identifiers": ["NCBIGene:6210", "ENSEMBL:ENSG00000134419", "HGNC:10389", "OMIM:603674", "UMLS:C1419705", "UniProtKB:P62244", "PR:P62244", "ENSEMBL:ENSP00000318646", "ENSEMBL:ENSP00000318646.4", "ENSEMBL:ENSP00000457000", "ENSEMBL:ENSP00000457000.1", "ENSEMBL:ENSP00000458115", "ENSEMBL:ENSP00000458115.1", "ENSEMBL:ENSP00000458528", "ENSEMBL:ENSP00000458528.1"], "information_content": 90.9}
{"id": "NCBIGene:64388", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GREM2", "equivalent_identifiers": ["NCBIGene:64388", "ENSEMBL:ENSG00000180875", "HGNC:17655", "OMIM:608832", "UMLS:C1539615", "UniProtKB:Q9H772", "PR:Q9H772", "ENSEMBL:ENSP00000318650", "ENSEMBL:ENSP00000318650.4", "UMLS:C1531052", "MESH:C495107"], "information_content": 92.8}
{"id": "UniProtKB:Q96IQ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-set and immunoglobulin domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96IQ7-1", "PR:Q96IQ7-1", "ENSEMBL:ENSP00000318684", "ENSEMBL:ENSP00000318684.5"], "information_content": 100.0}
{"id": "UniProtKB:P16383-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intron Large complex component GCFC2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P16383-1", "PR:P16383-1", "ENSEMBL:ENSP00000318690", "ENSEMBL:ENSP00000318690.3"], "information_content": 100.0}
{"id": "NCBIGene:84617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBB6", "equivalent_identifiers": ["NCBIGene:84617", "ENSEMBL:ENSG00000176014", "HGNC:20776", "OMIM:615103", "UMLS:C1540128", "UniProtKB:B3KS31", "UMLS:C3849625", "MESH:C000590680", "UniProtKB:B4E386", "UniProtKB:K7EJ64", "ENSEMBL:ENSP00000465040", "ENSEMBL:ENSP00000465040.1", "UniProtKB:Q9BUF5", "PR:Q9BUF5", "ENSEMBL:ENSP00000318697", "ENSEMBL:ENSP00000318697.4"], "information_content": 89.4}
{"id": "UniProtKB:Q8IZU0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM9B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZU0-1", "PR:Q8IZU0-1", "ENSEMBL:ENSP00000318716", "ENSEMBL:ENSP00000318716.5", "ENSEMBL:ENSP00000412606", "ENSEMBL:ENSP00000412606.1", "ENSEMBL:ENSP00000431456", "ENSEMBL:ENSP00000431456.2", "ENSEMBL:ENSP00000498495", "ENSEMBL:ENSP00000498495.1"], "information_content": 100.0}
{"id": "NCBIGene:282679", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AQP11", "equivalent_identifiers": ["NCBIGene:282679", "ENSEMBL:ENSG00000178301", "HGNC:19940", "OMIM:609914", "UMLS:C1426548", "UniProtKB:Q8NBQ7", "PR:Q8NBQ7", "ENSEMBL:ENSP00000318770", "ENSEMBL:ENSP00000318770.3", "UMLS:C1722742", "MESH:C511251"], "information_content": 95.4}
{"id": "NCBIGene:27319", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BHLHE22", "equivalent_identifiers": ["NCBIGene:27319", "ENSEMBL:ENSG00000180828", "HGNC:11963", "OMIM:613483", "UMLS:C1420841", "UniProtKB:B4DF88", "UMLS:C1174699", "MESH:C471854", "UniProtKB:Q8NFJ8", "PR:Q8NFJ8", "ENSEMBL:ENSP00000318799", "ENSEMBL:ENSP00000318799.1", "UMLS:C2699340"], "information_content": 95.4}
{"id": "UniProtKB:Q9HCH5-13", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptotagmin-like protein 2 isoform h10 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCH5-13", "PR:Q9HCH5-13", "ENSEMBL:ENSP00000318803", "ENSEMBL:ENSP00000318803.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUI8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytokine receptor-like factor 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUI8-1", "PR:Q8IUI8-1", "ENSEMBL:ENSP00000318804", "ENSEMBL:ENSP00000318804.6"], "information_content": 100.0}
{"id": "MONDO:0011765", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia type 5", "equivalent_identifiers": ["MONDO:0011765", "DOID:0070299", "OMIM:607078", "orphanet:93311", "UMLS:C1846843", "MESH:C535505", "SNOMEDCT:715674008", "medgen:335542", "icd11.foundation:537678813"], "information_content": 100.0}
{"id": "NCBIGene:79571", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GCC1", "equivalent_identifiers": ["NCBIGene:79571", "ENSEMBL:ENSG00000179562", "HGNC:19095", "OMIM:607418", "UMLS:C1426008", "UniProtKB:A4D0Z4", "UMLS:C1175062", "MESH:C472298", "UniProtKB:Q96CN9", "PR:Q96CN9", "ENSEMBL:ENSP00000318821", "ENSEMBL:ENSP00000318821.2"], "information_content": 100.0}
{"id": "UniProtKB:P55957-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BH3-interacting domain death agonist isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P55957-2", "PR:P55957-2", "ENSEMBL:ENSP00000318822", "ENSEMBL:ENSP00000318822.7"], "information_content": 100.0}
{"id": "NCBIGene:126541", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10H4", "equivalent_identifiers": ["NCBIGene:126541", "ENSEMBL:ENSG00000176231", "HGNC:15388", "UMLS:C1423456", "UniProtKB:A0A126GVV2", "UniProtKB:Q8NGA5", "PR:Q8NGA5", "ENSEMBL:ENSP00000318834", "ENSEMBL:ENSP00000318834.1"], "information_content": 100.0}
{"id": "NCBIGene:10992", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SF3B2", "equivalent_identifiers": ["NCBIGene:10992", "ENSEMBL:ENSG00000087365", "HGNC:10769", "OMIM:605591", "UMLS:C1419981", "UniProtKB:Q13435", "PR:Q13435", "ENSEMBL:ENSP00000318861", "ENSEMBL:ENSP00000318861.6", "UMLS:C1438706", "MESH:C486348"], "information_content": 100.0}
{"id": "NCBIGene:1582", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP8B1", "equivalent_identifiers": ["NCBIGene:1582", "ENSEMBL:ENSG00000180432", "HGNC:2653", "OMIM:602172", "UMLS:C1413895", "UniProtKB:Q9UNU6", "PR:Q9UNU6", "ENSEMBL:ENSP00000318867", "ENSEMBL:ENSP00000318867.4", "UMLS:C1522546"], "information_content": 100.0}
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{"id": "NCBIGene:377677", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CA13", "equivalent_identifiers": ["NCBIGene:377677", "ENSEMBL:ENSG00000185015", "HGNC:14914", "OMIM:611436", "UMLS:C1538426", "UniProtKB:Q8N1Q1", "PR:Q8N1Q1", "ENSEMBL:ENSP00000318912", "ENSEMBL:ENSP00000318912.3", "UMLS:C1450526", "MESH:C483903"], "information_content": 80.6}
{"id": "NCBIGene:9240", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PNMA1", "equivalent_identifiers": ["NCBIGene:9240", "ENSEMBL:ENSG00000176903", "HGNC:9158", "OMIM:604010", "UMLS:C1418711", "UniProtKB:Q8ND90", "PR:Q8ND90", "ENSEMBL:ENSP00000318914", "ENSEMBL:ENSP00000318914.3", "UMLS:C5848971"], "information_content": 95.4}
{"id": "UniProtKB:Q9UEW3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "macrophage receptor MARCO isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UEW3-1", "PR:Q9UEW3-1", "ENSEMBL:ENSP00000318916", "ENSEMBL:ENSP00000318916.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6Q0C0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRAF7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6Q0C0-1", "PR:Q6Q0C0-1", "ENSEMBL:ENSP00000318944", "ENSEMBL:ENSP00000318944.6", "ENSEMBL:ENSP00000515903", "ENSEMBL:ENSP00000515903.1"], "information_content": 100.0}
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{"id": "MONDO:0019404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "perineurioma", "equivalent_identifiers": ["MONDO:0019404", "DOID:4697", "orphanet:85102", "UMLS:C0751691", "NCIT:C4973", "SNOMEDCT:404036006", "medgen:199712", "icd11.foundation:456459236"], "information_content": 88.2}
{"id": "MONDO:0956986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "solitary fibrous tumor/hemangiopericytoma", "equivalent_identifiers": ["MONDO:0956986", "DOID:0080897"], "information_content": 100.0}
{"id": "MONDO:0003557", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic nerve sheath meningioma", "equivalent_identifiers": ["MONDO:0003557", "DOID:5632", "UMLS:C0346328", "MEDDRA:10089684", "NCIT:C4538", "SNOMEDCT:254978007", "medgen:138057", "HP:0500089"], "information_content": 100.0}
{"id": "MONDO:0004339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tuberculum sellae meningioma", "equivalent_identifiers": ["MONDO:0004339", "DOID:7713", "UMLS:C1336829", "MEDDRA:10087648", "NCIT:C5284", "medgen:277835"], "information_content": 100.0}
{"id": "NCBIGene:119774", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52K2", "equivalent_identifiers": ["NCBIGene:119774", "ENSEMBL:ENSG00000181963", "HGNC:15223", "UMLS:C1423314", "UniProtKB:A0A126GVK8", "UniProtKB:Q8NGK3", "PR:Q8NGK3", "ENSEMBL:ENSP00000318956", "ENSEMBL:ENSP00000318956.4"], "information_content": 100.0}
{"id": "MONDO:0007015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "viral meningitis", "equivalent_identifiers": ["MONDO:0007015", "DOID:10310", "EFO:1001236", "UMLS:C0025297", "MESH:D008587", "MEDDRA:10027260", "MEDDRA:10027262", "MEDDRA:10046236", "MEDDRA:10047469", "NCIT:C118298", "SNOMEDCT:58170007", "medgen:44355", "ICD10:A87", "ICD9:047.9"], "information_content": 92.8}
{"id": "UniProtKB:Q9NQQ7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 35 member C2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQQ7-3", "PR:Q9NQQ7-3", "ENSEMBL:ENSP00000318960", "ENSEMBL:ENSP00000318960.9"], "information_content": 100.0}
{"id": "NCBIGene:286499", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM133A", "equivalent_identifiers": ["NCBIGene:286499", "ENSEMBL:ENSG00000179083", "HGNC:26748", "UMLS:C2239423", "UniProtKB:Q8N9E0", "PR:Q8N9E0", "ENSEMBL:ENSP00000318974", "ENSEMBL:ENSP00000318974.4", "ENSEMBL:ENSP00000362169", "ENSEMBL:ENSP00000362169.1", "ENSEMBL:ENSP00000507109", "ENSEMBL:ENSP00000507109.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96J88-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epithelial-stromal interaction protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96J88-3", "PR:Q96J88-3", "ENSEMBL:ENSP00000318982", "ENSEMBL:ENSP00000318982.7"], "information_content": 100.0}
{"id": "NCBIGene:63899", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NSUN3", "equivalent_identifiers": ["NCBIGene:63899", "ENSEMBL:ENSG00000178694", "HGNC:26208", "OMIM:617491", "UMLS:C1538490", "UniProtKB:Q9H649", "PR:Q9H649", "ENSEMBL:ENSP00000318986", "ENSEMBL:ENSP00000318986.4", "UMLS:C4507865", "MESH:C000620888"], "information_content": 100.0}
{"id": "NCBIGene:64925", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC71", "equivalent_identifiers": ["NCBIGene:64925", "ENSEMBL:ENSG00000177352", "HGNC:25760", "UMLS:C1824595", "UniProtKB:Q8IV32", "PR:Q8IV32", "ENSEMBL:ENSP00000319006", "ENSEMBL:ENSP00000319006.6", "UMLS:C5564875", "MESH:C000720795"], "information_content": 95.4}
{"id": "NCBIGene:1068", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CETN1", "equivalent_identifiers": ["NCBIGene:1068", "ENSEMBL:ENSG00000177143", "HGNC:1866", "OMIM:603187", "UMLS:C1413350", "UniProtKB:A0A140VJG3", "UMLS:C3659657", "MESH:C580665", "UniProtKB:Q12798", "PR:Q12798", "ENSEMBL:ENSP00000319052", "ENSEMBL:ENSP00000319052.3"], "information_content": 92.8}
{"id": "NCBIGene:58492", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF77", "equivalent_identifiers": ["NCBIGene:58492", "ENSEMBL:ENSG00000175691", "HGNC:13150", "OMIM:194551", "UMLS:C1421834", "UniProtKB:Q15935", "PR:Q15935", "ENSEMBL:ENSP00000319053", "ENSEMBL:ENSP00000319053.3"], "information_content": 100.0}
{"id": "NCBIGene:818", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAMK2G", "equivalent_identifiers": ["NCBIGene:818", "ENSEMBL:ENSG00000148660", "HGNC:1463", "OMIM:602123", "UMLS:C1413102", "UniProtKB:A0A2Q3DQE3", "ENSEMBL:ENSP00000319060", "ENSEMBL:ENSP00000319060.3", "UniProtKB:B3KY86", "UniProtKB:H0Y6G2", "ENSEMBL:ENSP00000405561", "ENSEMBL:ENSP00000405561.2", "ENSEMBL:ENSP00000410298", "ENSEMBL:ENSP00000410298.3", "UniProtKB:Q13280", "UniProtKB:Q13555", "PR:Q13555", "UMLS:C3542916", "MESH:C517662", "UniProtKB:Q5SWX3", "ENSEMBL:ENSP00000361851", "ENSEMBL:ENSP00000361851.1"]}
{"id": "NCBIGene:5912", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAP2B", "equivalent_identifiers": ["NCBIGene:5912", "ENSEMBL:ENSG00000181467", "HGNC:9862", "OMIM:179541", "UMLS:C1419270", "UniProtKB:P61225", "PR:P61225", "ENSEMBL:ENSP00000319096", "ENSEMBL:ENSP00000319096.2", "UMLS:C1448635", "MESH:C065562"], "information_content": 95.4}
{"id": "UniProtKB:Q7KZ85-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription elongation factor SPT6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7KZ85-1", "PR:Q7KZ85-1", "ENSEMBL:ENSP00000319104", "ENSEMBL:ENSP00000319104.6", "ENSEMBL:ENSP00000338143", "ENSEMBL:ENSP00000338143.4"], "information_content": 100.0}
{"id": "NCBIGene:170825", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSX2", "equivalent_identifiers": ["NCBIGene:170825", "ENSEMBL:ENSG00000180613", "HGNC:24959", "OMIM:616253", "UMLS:C2239511", "UniProtKB:B2LYG3", "UniProtKB:Q9BZM3", "PR:Q9BZM3", "ENSEMBL:ENSP00000319118", "ENSEMBL:ENSP00000319118.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQ72-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pregnancy-specific beta-1-glycoprotein 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ72-1", "PR:Q9UQ72-1", "ENSEMBL:ENSP00000319140", "ENSEMBL:ENSP00000319140.7"], "information_content": 100.0}
{"id": "MONDO:0012527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 11 multiple types", "equivalent_identifiers": ["MONDO:0012527", "DOID:0110249", "OMIM:610623", "UMLS:C1864567", "UMLS:C3808029", "MESH:C535344", "medgen:351162"], "information_content": 100.0}
{"id": "UniProtKB:Q53TN4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plasma membrane ascorbate-dependent reductase CYBRD1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q53TN4-1", "PR:Q53TN4-1", "ENSEMBL:ENSP00000319141", "ENSEMBL:ENSP00000319141.4"], "information_content": 100.0}
{"id": "UniProtKB:O14744-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein arginine N-methyltransferase 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14744-1", "PR:O14744-1", "ENSEMBL:ENSP00000319169", "ENSEMBL:ENSP00000319169.8"], "information_content": 100.0}
{"id": "NCBIGene:200895", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DHFR2", "equivalent_identifiers": ["NCBIGene:200895", "ENSEMBL:ENSG00000178700", "HGNC:27309", "OMIM:616588", "UMLS:C1539290", "UniProtKB:B3KV46", "UniProtKB:Q86XF0", "PR:Q86XF0", "ENSEMBL:ENSP00000319170", "ENSEMBL:ENSP00000319170.2", "ENSEMBL:ENSP00000377768", "ENSEMBL:ENSP00000377768.2", "ENSEMBL:ENSP00000418415", "ENSEMBL:ENSP00000418415.1", "ENSEMBL:ENSP00000480823", "ENSEMBL:ENSP00000480823.1"], "information_content": 100.0}
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{"id": "MONDO:0011616", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 6", "equivalent_identifiers": ["MONDO:0011616", "DOID:0110874", "OMIM:605934", "UMLS:C1853830", "MESH:C565274", "medgen:342979"], "information_content": 100.0}
{"id": "NCBIGene:126695", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KDF1", "equivalent_identifiers": ["NCBIGene:126695", "ENSEMBL:ENSG00000175707", "HGNC:26624", "OMIM:616758", "UMLS:C1823786", "UniProtKB:Q8NAX2", "PR:Q8NAX2", "ENSEMBL:ENSP00000319179", "ENSEMBL:ENSP00000319179.5", "UMLS:C5433313", "MESH:C000710812"], "information_content": 100.0}
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{"id": "NCBIGene:122742", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4L1", "equivalent_identifiers": ["NCBIGene:122742", "ENSEMBL:ENSG00000176246", "HGNC:15356", "UMLS:C1423435", "UniProtKB:Q8NH43", "PR:Q8NH43", "ENSEMBL:ENSP00000319217", "ENSEMBL:ENSP00000319217.1", "ENSEMBL:ENSP00000517305", "ENSEMBL:ENSP00000517305.1"], "information_content": 100.0}
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{"id": "NCBIGene:55110", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGOHB", "equivalent_identifiers": ["NCBIGene:55110", "ENSEMBL:ENSG00000111196", "HGNC:25504", "OMIM:619552", "UMLS:C2239665", "UniProtKB:F5H6P7", "ENSEMBL:ENSP00000437462", "ENSEMBL:ENSP00000437462.1", "UniProtKB:Q96A72", "PR:Q96A72", "ENSEMBL:ENSP00000319240", "ENSEMBL:ENSP00000319240.2"], "information_content": 95.4}
{"id": "UniProtKB:Q9UHD1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine and histidine-rich domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHD1-1", "PR:Q9UHD1-1", "ENSEMBL:ENSP00000319255", "ENSEMBL:ENSP00000319255.6", "ENSEMBL:ENSP00000496744", "ENSEMBL:ENSP00000496744.1"], "information_content": 100.0}
{"id": "MONDO:0005808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inclusion conjunctivitis", "equivalent_identifiers": ["MONDO:0005808", "DOID:13800", "EFO:0007324", "UMLS:C0009770", "UMLS:C0343723", "UMLS:C0392644", "MESH:D003235", "MEDDRA:10008535", "MEDDRA:10010745", "MEDDRA:10021629", "MEDDRA:10053609", "MEDDRA:10053992", "MEDDRA:10053993", "MEDDRA:10062847", "NCIT:C116817", "SNOMEDCT:231861005", "SNOMEDCT:240591000", "SNOMEDCT:56009001", "medgen:1095", "ICD10:A74.0", "ICD9:077.0"], "information_content": 100.0}
{"id": "UniProtKB:P80723-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "brain acid soluble protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P80723-1", "PR:P80723-1", "ENSEMBL:ENSP00000319281", "ENSEMBL:ENSP00000319281.3", "ENSEMBL:ENSP00000482066", "ENSEMBL:ENSP00000482066.1"], "information_content": 100.0}
{"id": "NCBIGene:137209", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF572", "equivalent_identifiers": ["NCBIGene:137209", "ENSEMBL:ENSG00000180938", "HGNC:26758", "UMLS:C1428623", "UniProtKB:Q7Z3I7", "PR:Q7Z3I7", "ENSEMBL:ENSP00000319305", "ENSEMBL:ENSP00000319305.5"], "information_content": 100.0}
{"id": "MONDO:0003672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior myocardial infarction", "equivalent_identifiers": ["MONDO:0003672", "DOID:5847", "UMLS:C0340319", "MEDDRA:10057548", "SNOMEDCT:194802003", "medgen:90949"], "information_content": 100.0}
{"id": "MONDO:0000468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "third-degree atrioventricular block", "equivalent_identifiers": ["MONDO:0000468", "DOID:0050823", "UMLS:C0151517", "MEDDRA:10003673", "MEDDRA:10003678", "MEDDRA:10003848", "MEDDRA:10003852", "MEDDRA:10010141", "MEDDRA:10019256", "MEDDRA:10019260", "MEDDRA:10019262", "MEDDRA:10019271", "MEDDRA:10043440", "MEDDRA:10065659", "NCIT:C50501", "SNOMEDCT:27885002", "medgen:56230", "HP:0001709"], "information_content": 92.8}
{"id": "UniProtKB:Q9NPA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-activated potassium channel subunit beta-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPA1-1", "PR:Q9NPA1-1", "ENSEMBL:ENSP00000319370", "ENSEMBL:ENSP00000319370.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXC1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apical endosomal glycoprotein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXC1-2", "PR:Q6UXC1-2", "ENSEMBL:ENSP00000319388", "ENSEMBL:ENSP00000319388.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N2F6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "armadillo repeat-containing protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2F6-1", "PR:Q8N2F6-1", "ENSEMBL:ENSP00000319412", "ENSEMBL:ENSP00000319412.3"], "information_content": 100.0}
{"id": "MONDO:0008104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 1", "equivalent_identifiers": ["MONDO:0008104", "DOID:0060578", "OMIM:163950", "UMLS:C0041409", "UMLS:C1527404", "UMLS:C4551602", "NCIT:C75459", "medgen:1638960"], "information_content": 100.0}
{"id": "UniProtKB:Q8IX90-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spindle and kinetochore-associated protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IX90-1", "PR:Q8IX90-1", "ENSEMBL:ENSP00000319417", "ENSEMBL:ENSP00000319417.5"], "information_content": 100.0}
{"id": "NCBIGene:1370", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPN2", "equivalent_identifiers": ["NCBIGene:1370", "ENSEMBL:ENSG00000178772", "HGNC:2313", "OMIM:603104", "UMLS:C1413674", "UniProtKB:P22792", "PR:P22792", "ENSEMBL:ENSP00000319464", "ENSEMBL:ENSP00000319464.3", "ENSEMBL:ENSP00000402232", "ENSEMBL:ENSP00000402232.1"], "information_content": 89.4}
{"id": "MONDO:0003479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toxic pneumonitis", "equivalent_identifiers": ["MONDO:0003479", "DOID:551", "UMLS:C0041881", "UMLS:C3714582", "MEDDRA:10008427", "MEDDRA:10035745", "MEDDRA:10070890", "NCIT:C35316", "SNOMEDCT:233733000", "medgen:811389", "ICD9:506.9"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6W8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inducible T-cell costimulator isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6W8-1", "PR:Q9Y6W8-1", "ENSEMBL:ENSP00000319476", "ENSEMBL:ENSP00000319476.6"], "information_content": 92.8}
{"id": "UniProtKB:Q9UKR8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetraspanin-16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKR8-1", "PR:Q9UKR8-1", "ENSEMBL:ENSP00000319486", "ENSEMBL:ENSP00000319486.1"], "information_content": 100.0}
{"id": "UniProtKB:O60701-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucose 6-dehydrogenase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60701-1", "PR:O60701-1", "ENSEMBL:ENSP00000319501", "ENSEMBL:ENSP00000319501.6", "ENSEMBL:ENSP00000421757", "ENSEMBL:ENSP00000421757.1"], "information_content": 100.0}
{"id": "NCBIGene:79317", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4K5", "equivalent_identifiers": ["NCBIGene:79317", "ENSEMBL:ENSG00000176281", "HGNC:14745", "UMLS:C1422895", "UniProtKB:A0A126GVN5", "UniProtKB:Q8NGD3", "PR:Q8NGD3", "ENSEMBL:ENSP00000319511", "ENSEMBL:ENSP00000319511.3", "ENSEMBL:ENSP00000517391", "ENSEMBL:ENSP00000517391.1"], "information_content": 100.0}
{"id": "NCBIGene:2653", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GCSH", "equivalent_identifiers": ["NCBIGene:2653", "ENSEMBL:ENSG00000140905", "HGNC:4208", "OMIM:238330", "UMLS:C1415025", "UniProtKB:P23434", "PR:P23434", "ENSEMBL:ENSP00000319531", "ENSEMBL:ENSP00000319531.3", "ENSEMBL:ENSP00000517634", "ENSEMBL:ENSP00000517634.1"], "information_content": 90.9}
{"id": "NCBIGene:285800", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRR18", "equivalent_identifiers": ["NCBIGene:285800", "ENSEMBL:ENSG00000176381", "HGNC:28574", "UMLS:C2239846", "UniProtKB:Q8N4B5", "PR:Q8N4B5", "ENSEMBL:ENSP00000319590", "ENSEMBL:ENSP00000319590.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UK17-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-type voltage-gated potassium channel KCND3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UK17-1", "PR:Q9UK17-1", "ENSEMBL:ENSP00000306923", "ENSEMBL:ENSP00000306923.4", "ENSEMBL:ENSP00000319591", "ENSEMBL:ENSP00000319591.2"], "information_content": 100.0}
{"id": "UniProtKB:O75971-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "snRNA-activating protein complex subunit 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75971-1", "PR:O75971-1", "ENSEMBL:ENSP00000319597", "ENSEMBL:ENSP00000319597.5", "ENSEMBL:ENSP00000378954", "ENSEMBL:ENSP00000378954.2", "ENSEMBL:ENSP00000454421", "ENSEMBL:ENSP00000454421.1", "ENSEMBL:ENSP00000457892", "ENSEMBL:ENSP00000457892.1"], "information_content": 100.0}
{"id": "UniProtKB:O00338-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sulfotransferase 1C2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O00338-2", "PR:O00338-2", "ENSEMBL:ENSP00000319622", "ENSEMBL:ENSP00000319622.5"], "information_content": 100.0}
{"id": "NCBIGene:3579", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCR2", "equivalent_identifiers": ["NCBIGene:3579", "ENSEMBL:ENSG00000180871", "HGNC:6027", "OMIM:146928", "UMLS:C1334126", "UniProtKB:P25025", "PR:P25025", "ENSEMBL:ENSP00000319635", "ENSEMBL:ENSP00000319635.2", "UMLS:C4082290", "UMLS:C5196654", "MESH:C000629781", "UniProtKB:Q53PC4"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0J1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0J1-1", "PR:Q9C0J1-1", "ENSEMBL:ENSP00000319636", "ENSEMBL:ENSP00000319636.4"], "information_content": 100.0}
{"id": "NCBIGene:63951", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DMRTA1", "equivalent_identifiers": ["NCBIGene:63951", "ENSEMBL:ENSG00000176399", "HGNC:13826", "OMIM:614803", "UMLS:C1422220", "UniProtKB:Q5VZB9", "PR:Q5VZB9", "ENSEMBL:ENSP00000319651", "ENSEMBL:ENSP00000319651.1", "UMLS:C4077431", "MESH:C000602986"], "information_content": 100.0}
{"id": "NCBIGene:10726", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUDC", "equivalent_identifiers": ["NCBIGene:10726", "ENSEMBL:ENSG00000090273", "HGNC:8045", "OMIM:610325", "UMLS:C1417876", "UniProtKB:Q9Y266", "PR:Q9Y266", "ENSEMBL:ENSP00000319664", "ENSEMBL:ENSP00000319664.5", "UMLS:C1563410", "MESH:C512648"], "information_content": 85.5}
{"id": "UniProtKB:B7ZAQ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi pH regulator A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:B7ZAQ6-1", "PR:B7ZAQ6-1", "ENSEMBL:ENSP00000319673", "ENSEMBL:ENSP00000319673.9"], "information_content": 100.0}
{"id": "UniProtKB:Q1HG44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual oxidase maturation factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q1HG44-1", "PR:Q1HG44-1", "ENSEMBL:ENSP00000319705", "ENSEMBL:ENSP00000319705.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6RW13-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "type-1 angiotensin II receptor-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6RW13-1", "PR:Q6RW13-1", "ENSEMBL:ENSP00000319713", "ENSEMBL:ENSP00000319713.5"], "information_content": 100.0}
{"id": "UniProtKB:Q16651-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostasin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16651-1", "PR:Q16651-1", "ENSEMBL:ENSP00000319730", "ENSEMBL:ENSP00000319730.6"], "information_content": 100.0}
{"id": "UniProtKB:Q14257-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reticulocalbin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q14257-2", "PR:Q14257-2", "ENSEMBL:ENSP00000319739", "ENSEMBL:ENSP00000319739.5"], "information_content": 100.0}
{"id": "NCBIGene:2828", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR4", "equivalent_identifiers": ["NCBIGene:2828", "ENSEMBL:ENSG00000177464", "HGNC:4497", "OMIM:600551", "UMLS:C1415233", "UniProtKB:P46093", "PR:P46093", "ENSEMBL:ENSP00000319744", "ENSEMBL:ENSP00000319744.3", "UMLS:C0293561", "MESH:C091670"], "information_content": 100.0}
{"id": "UniProtKB:Q63HR2-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tensin-2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q63HR2-4", "PR:Q63HR2-4", "ENSEMBL:ENSP00000319756", "ENSEMBL:ENSP00000319756.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86YS6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-43 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YS6-1", "PR:Q86YS6-1", "ENSEMBL:ENSP00000319781", "ENSEMBL:ENSP00000319781.6", "ENSEMBL:ENSP00000376981", "ENSEMBL:ENSP00000376981.1", "ENSEMBL:ENSP00000376982", "ENSEMBL:ENSP00000376982.1", "ENSEMBL:ENSP00000376984", "ENSEMBL:ENSP00000376984.1", "ENSEMBL:ENSP00000376985", "ENSEMBL:ENSP00000376985.1"], "information_content": 100.0}
{"id": "UniProtKB:P15559-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NAD(P)H dehydrogenase [quinone] 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P15559-1", "PR:P15559-1", "ENSEMBL:ENSP00000319788", "ENSEMBL:ENSP00000319788.5"], "information_content": 95.4}
{"id": "UniProtKB:A6NH21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine incorporator 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NH21-1", "PR:A6NH21-1", "ENSEMBL:ENSP00000319796", "ENSEMBL:ENSP00000319796.6"], "information_content": 100.0}
{"id": "MONDO:0005665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bell's palsy", "equivalent_identifiers": ["MONDO:0005665", "DOID:12506", "EFO:0007167", "UMLS:C0376175", "UMLS:C1858719", "MESH:D020330", "MEDDRA:10004223", "MEDDRA:10033559", "MEDDRA:10080910", "NCIT:C26769", "SNOMEDCT:193093009", "medgen:87660", "ICD10:G51.0", "ICD9:351.0", "HP:0010628"], "information_content": 87.2}
{"id": "UniProtKB:Q8IZA3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone H1.8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZA3-1", "PR:Q8IZA3-1", "ENSEMBL:ENSP00000319799", "ENSEMBL:ENSP00000319799.2"], "information_content": 100.0}
{"id": "UniProtKB:P35558-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoenolpyruvate carboxykinase, cytosolic [GTP] isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35558-1", "PR:P35558-1", "ENSEMBL:ENSP00000319814", "ENSEMBL:ENSP00000319814.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6K4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "optic atrophy 3 protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6K4-2", "PR:Q9H6K4-2", "ENSEMBL:ENSP00000319817", "ENSEMBL:ENSP00000319817.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N1G0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 687 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1G0-1", "PR:Q8N1G0-1", "ENSEMBL:ENSP00000319829", "ENSEMBL:ENSP00000319829.5", "ENSEMBL:ENSP00000336620", "ENSEMBL:ENSP00000336620.5"], "information_content": 100.0}
{"id": "NCBIGene:50619", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEF6", "equivalent_identifiers": ["NCBIGene:50619", "ENSEMBL:ENSG00000023892", "HGNC:2760", "OMIM:610094", "UMLS:C1413972", "UniProtKB:Q9H4E7", "PR:Q9H4E7", "ENSEMBL:ENSP00000319831", "ENSEMBL:ENSP00000319831.5", "UMLS:C1432805", "MESH:C479750"], "information_content": 95.4}
{"id": "MONDO:0032723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 60", "equivalent_identifiers": ["MONDO:0032723", "DOID:0111954", "OMIM:618394", "UMLS:C5193072", "medgen:1681890"], "information_content": 100.0}
{"id": "NCBIGene:432355", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLURP2", "equivalent_identifiers": ["NCBIGene:432355", "ENSEMBL:ENSG00000283992", "HGNC:25549", "UMLS:C4085417", "UniProtKB:P0DP57", "PR:P0DP57", "ENSEMBL:ENSP00000319846", "ENSEMBL:ENSP00000319846.7"], "information_content": 100.0}
{"id": "NCBIGene:55349", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHDH", "equivalent_identifiers": ["NCBIGene:55349", "ENSEMBL:ENSG00000016391", "HGNC:24288", "UMLS:C1538452", "UniProtKB:Q8NE62", "PR:Q8NE62", "ENSEMBL:ENSP00000319851", "ENSEMBL:ENSP00000319851.5", "UMLS:C3542407"], "information_content": 95.4}
{"id": "UniProtKB:Q9UHX3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G protein-coupled receptor E2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHX3-1", "PR:Q9UHX3-1", "ENSEMBL:ENSP00000319883", "ENSEMBL:ENSP00000319883.3"], "information_content": 100.0}
{"id": "NCBIGene:56892", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCIM", "equivalent_identifiers": ["NCBIGene:56892", "ENSEMBL:ENSG00000176907", "HGNC:1357", "OMIM:607702", "UMLS:C1413028", "UniProtKB:Q9NR00", "PR:Q9NR00", "ENSEMBL:ENSP00000319914", "ENSEMBL:ENSP00000319914.3", "UMLS:C1309767", "MESH:C418741"], "information_content": 100.0}
{"id": "MONDO:0007787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ambras syndrome", "equivalent_identifiers": ["MONDO:0007787", "DOID:0111060", "OMIM:145701", "orphanet:1023", "UMLS:C1840362", "MESH:C536605", "medgen:333542", "ICD10:Q84.2"], "information_content": 100.0}
{"id": "NCBIGene:81533", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITFG1", "equivalent_identifiers": ["NCBIGene:81533", "ENSEMBL:ENSG00000129636", "HGNC:30697", "OMIM:611803", "UMLS:C1825626", "UniProtKB:B4DXC2", "UMLS:C4550054", "MESH:C000624320", "UniProtKB:F5GXC5", "ENSEMBL:ENSP00000441062", "ENSEMBL:ENSP00000441062.2", "UniProtKB:Q8TB96", "PR:Q8TB96", "ENSEMBL:ENSP00000319918", "ENSEMBL:ENSP00000319918.6"], "information_content": 100.0}
{"id": "NCBIGene:146712", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "QTGAL", "equivalent_identifiers": ["NCBIGene:146712", "ENSEMBL:ENSG00000175711", "HGNC:21727", "OMIM:615337", "UMLS:C1427724", "UniProtKB:I3L232", "ENSEMBL:ENSP00000459327", "ENSEMBL:ENSP00000459327.1", "ENSEMBL:ENSP00000487755", "ENSEMBL:ENSP00000487755.1", "UMLS:C1568136", "MESH:C499844", "UniProtKB:I3L4B6", "ENSEMBL:ENSP00000461127", "ENSEMBL:ENSP00000461127.1", "ENSEMBL:ENSP00000488207", "ENSEMBL:ENSP00000488207.1", "UniProtKB:Q67FW5", "PR:Q67FW5", "ENSEMBL:ENSP00000319979", "ENSEMBL:ENSP00000319979.4", "ENSEMBL:ENSP00000480784", "ENSEMBL:ENSP00000480784.1"], "information_content": 92.8}
{"id": "NCBIGene:9120", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC16A6", "equivalent_identifiers": ["NCBIGene:9120", "ENSEMBL:ENSG00000108932", "HGNC:10927", "OMIM:603880", "UMLS:C1420107", "UniProtKB:O15403", "PR:O15403", "ENSEMBL:ENSP00000319991", "ENSEMBL:ENSP00000319991.4", "ENSEMBL:ENSP00000462985", "ENSEMBL:ENSP00000462985.1", "UMLS:C5433366", "MESH:C000710048"], "information_content": 100.0}
{"id": "NCBIGene:8834", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM11", "equivalent_identifiers": ["NCBIGene:8834", "ENSEMBL:ENSG00000178307", "HGNC:16823", "OMIM:618817", "UMLS:C1823304", "UniProtKB:P17152", "PR:P17152", "ENSEMBL:ENSP00000319992", "ENSEMBL:ENSP00000319992.6"], "information_content": 90.9}
{"id": "MONDO:0014170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex cortical dysplasia with other brain malformations 3", "equivalent_identifiers": ["MONDO:0014170", "DOID:0090134", "OMIM:615411", "UMLS:C3809414", "medgen:815744"], "information_content": 100.0}
{"id": "UniProtKB:O75970-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multiple PDZ domain protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75970-1", "PR:O75970-1", "ENSEMBL:ENSP00000320006", "ENSEMBL:ENSP00000320006.7"], "information_content": 100.0}
{"id": "NCBIGene:9796", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHYHIP", "equivalent_identifiers": ["NCBIGene:9796", "ENSEMBL:ENSG00000168490", "HGNC:16865", "OMIM:608511", "UMLS:C1424604", "UniProtKB:Q92561", "PR:Q92561", "ENSEMBL:ENSP00000320017", "ENSEMBL:ENSP00000320017.3", "ENSEMBL:ENSP00000415491", "ENSEMBL:ENSP00000415491.2"], "information_content": 92.8}
{"id": "UniProtKB:Q08289-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent L-type calcium channel subunit beta-2 isoform h2d (human)", "equivalent_identifiers": ["UniProtKB:Q08289-1", "PR:Q08289-1", "ENSEMBL:ENSP00000320025", "ENSEMBL:ENSP00000320025.8"], "information_content": 100.0}
{"id": "UniProtKB:O14559-11", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 33 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O14559-11", "PR:O14559-11", "ENSEMBL:ENSP00000320038", "ENSEMBL:ENSP00000320038.4"], "information_content": 100.0}
{"id": "UniProtKB:O75608-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-protein thioesterase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75608-1", "PR:O75608-1", "ENSEMBL:ENSP00000320043", "ENSEMBL:ENSP00000320043.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDZ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "divergent protein kinase domain 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDZ4-1", "PR:Q8NDZ4-1", "ENSEMBL:ENSP00000320081", "ENSEMBL:ENSP00000320081.4"], "information_content": 100.0}
{"id": "MONDO:0014489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "limb-girdle muscular dystrophy due to POMK deficiency", "equivalent_identifiers": ["MONDO:0014489", "DOID:0112381", "OMIM:616094", "orphanet:445110", "UMLS:C4015184", "SNOMEDCT:1234819007", "medgen:863621"], "information_content": 100.0}
{"id": "MONDO:0003865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acral lentiginous melanoma", "equivalent_identifiers": ["MONDO:0003865", "DOID:6367", "UMLS:C0346037", "MEDDRA:10000583", "NCIT:C4022", "SNOMEDCT:16974005", "SNOMEDCT:254732008", "medgen:87530", "HP:0012060"], "information_content": 86.3}
{"id": "MONDO:0014101", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "equivalent_identifiers": ["MONDO:0014101", "DOID:0111235", "OMIM:615249", "UMLS:C3808964", "medgen:815294"], "information_content": 100.0}
{"id": "UniProtKB:Q5ZPR3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD276 antigen isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5ZPR3-1", "PR:Q5ZPR3-1", "ENSEMBL:ENSP00000320084", "ENSEMBL:ENSP00000320084.5"], "information_content": 100.0}
{"id": "NCBIGene:137814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKX2-6", "equivalent_identifiers": ["NCBIGene:137814", "ENSEMBL:ENSG00000180053", "HGNC:32940", "OMIM:611770", "UMLS:C1826429", "UniProtKB:A6NCS4", "PR:A6NCS4", "ENSEMBL:ENSP00000320089", "ENSEMBL:ENSP00000320089.3", "UMLS:C1570801", "MESH:C501915"], "information_content": 100.0}
{"id": "MONDO:0010239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly type 1 due to doublecortin gene mutation", "equivalent_identifiers": ["MONDO:0010239", "DOID:0112239", "OMIM:300067", "orphanet:2148", "UMLS:C1848070", "UMLS:C1848200", "UMLS:C4275012", "UMLS:C4551968", "MESH:C531731", "MESH:C564722", "SNOMEDCT:715780008", "medgen:1644310", "icd11.foundation:891064255"], "information_content": 100.0}
{"id": "UniProtKB:Q99963-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endophilin-A3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q99963-3", "PR:Q99963-3", "ENSEMBL:ENSP00000320092", "ENSEMBL:ENSP00000320092.5", "ENSEMBL:ENSP00000517115", "ENSEMBL:ENSP00000517115.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15642-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Cdc42-interacting protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15642-1", "PR:Q15642-1", "ENSEMBL:ENSP00000320117", "ENSEMBL:ENSP00000320117.7"], "information_content": 100.0}
{"id": "MONDO:0009813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic recurrent multifocal osteomyelitis", "equivalent_identifiers": ["MONDO:0009813", "DOID:0060645", "OMIM.PS:609628", "orphanet:324964", "UMLS:C0410422", "MESH:C535456", "MEDDRA:10071530", "MEDDRA:10071531", "NCIT:C119042", "SNOMEDCT:240151005", "medgen:140822", "icd11.foundation:1256384247", "ICD10:M86.3"], "information_content": 90.9}
{"id": "UniProtKB:O14576-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoplasmic dynein 1 intermediate chain 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14576-1", "PR:O14576-1", "ENSEMBL:ENSP00000320130", "ENSEMBL:ENSP00000320130.6"], "information_content": 100.0}
{"id": "UniProtKB:Q15910-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase EZH2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15910-2", "PR:Q15910-2", "ENSEMBL:ENSP00000320147", "ENSEMBL:ENSP00000320147.2"], "information_content": 100.0}
{"id": "UniProtKB:P14618-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyruvate kinase PKM isoform M1 (human)", "equivalent_identifiers": ["UniProtKB:P14618-2", "PR:P14618-2", "ENSEMBL:ENSP00000320171", "ENSEMBL:ENSP00000320171.6", "ENSEMBL:ENSP00000456970", "ENSEMBL:ENSP00000456970.1"], "information_content": 95.4}
{"id": "UniProtKB:P14317-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hematopoietic lineage cell-specific protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P14317-1", "PR:P14317-1", "ENSEMBL:ENSP00000320176", "ENSEMBL:ENSP00000320176.3"], "information_content": 100.0}
{"id": "NCBIGene:2692", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GHRHR", "equivalent_identifiers": ["NCBIGene:2692", "ENSEMBL:ENSG00000106128", "HGNC:4266", "OMIM:139191", "UMLS:C1415064", "UniProtKB:A0A090N8Y6", "UMLS:C5196738", "MESH:C000629967", "UniProtKB:Q02643", "PR:Q02643", "ENSEMBL:ENSP00000320180", "ENSEMBL:ENSP00000320180.2"], "information_content": 92.8}
{"id": "NCBIGene:51649", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPS23", "equivalent_identifiers": ["NCBIGene:51649", "ENSEMBL:ENSG00000181610", "HGNC:14509", "OMIM:611985", "UMLS:C1422714", "UniProtKB:Q9Y3D9", "PR:Q9Y3D9", "ENSEMBL:ENSP00000320184", "ENSEMBL:ENSP00000320184.8"], "information_content": 95.4}
{"id": "NCBIGene:1149", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIDEA", "equivalent_identifiers": ["NCBIGene:1149", "ENSEMBL:ENSG00000176194", "HGNC:1976", "OMIM:604440", "UMLS:C1413421", "UniProtKB:B3KVA2", "UMLS:C1610218", "MESH:C502539", "UniProtKB:O60543", "PR:O60543", "ENSEMBL:ENSP00000320209", "ENSEMBL:ENSP00000320209.8", "UniProtKB:Q8N5P9"], "information_content": 100.0}
{"id": "MONDO:0013454", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 11", "equivalent_identifiers": ["MONDO:0013454", "DOID:0110216", "OMIM:613837", "UMLS:C1840284", "MESH:C564140", "medgen:326698"], "information_content": 100.0}
{"id": "NCBIGene:79642", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARSJ", "equivalent_identifiers": ["NCBIGene:79642", "ENSEMBL:ENSG00000180801", "HGNC:26286", "OMIM:610010", "UMLS:C1825085", "UniProtKB:Q5FYB0", "PR:Q5FYB0", "ENSEMBL:ENSP00000320219", "ENSEMBL:ENSP00000320219.7", "UMLS:C1722660", "MESH:C511171"], "information_content": 95.4}
{"id": "NCBIGene:643677", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRTM3", "equivalent_identifiers": ["NCBIGene:643677", "ENSEMBL:ENSG00000175820", "HGNC:26851", "UMLS:C3469802", "UniProtKB:Q8NDH2", "PR:Q8NDH2", "ENSEMBL:ENSP00000320232", "ENSEMBL:ENSP00000320232.3"], "information_content": 100.0}
{"id": "NCBIGene:29928", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMM22", "equivalent_identifiers": ["NCBIGene:29928", "ENSEMBL:ENSG00000177370", "HGNC:17317", "OMIM:607251", "UMLS:C1424897", "UniProtKB:Q9Y584", "PR:Q9Y584", "ENSEMBL:ENSP00000320236", "ENSEMBL:ENSP00000320236.2", "ENSEMBL:ENSP00000478463", "ENSEMBL:ENSP00000478463.1", "ENSEMBL:ENSP00000482204", "ENSEMBL:ENSP00000482204.1"], "information_content": 90.9}
{"id": "MONDO:0017136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "omodysplasia", "equivalent_identifiers": ["MONDO:0017136", "DOID:0060288", "OMIM.PS:258315", "orphanet:2733", "UMLS:C4510897", "SNOMEDCT:725164008", "medgen:1388973", "icd11.foundation:1081897527"], "information_content": 92.8}
{"id": "NCBIGene:285195", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC9A9", "equivalent_identifiers": ["NCBIGene:285195", "ENSEMBL:ENSG00000181804", "HGNC:20653", "OMIM:608396", "UMLS:C1427060", "UniProtKB:Q8IVB4", "PR:Q8IVB4", "ENSEMBL:ENSP00000320246", "ENSEMBL:ENSP00000320246.6", "UMLS:C1312870", "MESH:C478541"], "information_content": 100.0}
{"id": "NCBIGene:363", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AQP6", "equivalent_identifiers": ["NCBIGene:363", "ENSEMBL:ENSG00000086159", "HGNC:639", "OMIM:601383", "UMLS:C1412496", "UniProtKB:Q13520", "PR:Q13520", "ENSEMBL:ENSP00000320247", "ENSEMBL:ENSP00000320247.5", "UMLS:C1430493", "MESH:C102226"], "information_content": 100.0}
{"id": "UniProtKB:Q6NW34-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolus and neural progenitor protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NW34-1", "PR:Q6NW34-1", "ENSEMBL:ENSP00000320251", "ENSEMBL:ENSP00000320251.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXW6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxysterol-binding protein-related protein 1 isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q9BXW6-1", "PR:Q9BXW6-1", "ENSEMBL:ENSP00000320291", "ENSEMBL:ENSP00000320291.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13509-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin beta-3 chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13509-1", "PR:Q13509-1", "ENSEMBL:ENSP00000320295", "ENSEMBL:ENSP00000320295.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y285-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phenylalanine--tRNA ligase alpha subunit isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y285-1", "PR:Q9Y285-1", "ENSEMBL:ENSP00000320309", "ENSEMBL:ENSP00000320309.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWR8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialidase-4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWR8-3", "PR:Q8WWR8-3", "ENSEMBL:ENSP00000320318", "ENSEMBL:ENSP00000320318.6", "ENSEMBL:ENSP00000485701", "ENSEMBL:ENSP00000485701.1"], "information_content": 100.0}
{"id": "UniProtKB:P55786-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "puromycin-sensitive aminopeptidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P55786-1", "PR:P55786-1", "ENSEMBL:ENSP00000320324", "ENSEMBL:ENSP00000320324.4", "ENSEMBL:ENSP00000503682", "ENSEMBL:ENSP00000503682.1"], "information_content": 100.0}
{"id": "NCBIGene:11145", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLAAT3", "equivalent_identifiers": ["NCBIGene:11145", "ENSEMBL:ENSG00000176485", "HGNC:17825", "OMIM:613867", "UMLS:C1425107", "UniProtKB:P53816", "PR:P53816", "ENSEMBL:ENSP00000320337", "ENSEMBL:ENSP00000320337.5", "ENSEMBL:ENSP00000389124", "ENSEMBL:ENSP00000389124.1", "UMLS:C1452100", "MESH:C490065"], "information_content": 95.4}
{"id": "UniProtKB:Q9HB65-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA polymerase II elongation factor ELL3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HB65-1", "PR:Q9HB65-1", "ENSEMBL:ENSP00000320346", "ENSEMBL:ENSP00000320346.3"], "information_content": 100.0}
{"id": "NCBIGene:124961", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFP3", "equivalent_identifiers": ["NCBIGene:124961", "ENSEMBL:ENSG00000180787", "HGNC:12861", "OMIM:194480", "UMLS:C1421570", "UniProtKB:Q96NJ6", "PR:Q96NJ6", "ENSEMBL:ENSP00000320347", "ENSEMBL:ENSP00000320347.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H7X7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 22 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H7X7-1", "PR:Q9H7X7-1", "ENSEMBL:ENSP00000320359", "ENSEMBL:ENSP00000320359.4", "ENSEMBL:ENSP00000392087", "ENSEMBL:ENSP00000392087.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BPV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "P2Y purinoceptor 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BPV8-1", "PR:Q9BPV8-1", "ENSEMBL:ENSP00000320376", "ENSEMBL:ENSP00000320376.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHI5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large neutral amino acids transporter small subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHI5-1", "PR:Q9UHI5-1", "ENSEMBL:ENSP00000320378", "ENSEMBL:ENSP00000320378.7"], "information_content": 100.0}
{"id": "NCBIGene:7367", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UGT2B17", "equivalent_identifiers": ["NCBIGene:7367", "ENSEMBL:ENSG00000197888", "HGNC:12547", "OMIM:601903", "UMLS:C1421339", "UniProtKB:O75795", "PR:O75795", "ENSEMBL:ENSP00000320401", "ENSEMBL:ENSP00000320401.2", "UMLS:C1569087", "MESH:C500513"], "information_content": 95.4}
{"id": "NCBIGene:155382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VPS37D", "equivalent_identifiers": ["NCBIGene:155382", "ENSEMBL:ENSG00000176428", "HGNC:18287", "OMIM:610039", "UMLS:C1425422", "UniProtKB:Q86XT2", "PR:Q86XT2", "ENSEMBL:ENSP00000320416", "ENSEMBL:ENSP00000320416.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBT7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-catulin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBT7-1", "PR:Q9UBT7-1", "ENSEMBL:ENSP00000320434", "ENSEMBL:ENSP00000320434.4"], "information_content": 100.0}
{"id": "UniProtKB:O14497-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AT-rich interactive domain-containing protein 1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14497-1", "PR:O14497-1", "ENSEMBL:ENSP00000320485", "ENSEMBL:ENSP00000320485.7"], "information_content": 100.0}
{"id": "NCBIGene:266812", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAP1L5", "equivalent_identifiers": ["NCBIGene:266812", "ENSEMBL:ENSG00000177432", "HGNC:19968", "OMIM:612203", "UMLS:C1426570", "UniProtKB:Q96NT1", "PR:Q96NT1", "ENSEMBL:ENSP00000320488", "ENSEMBL:ENSP00000320488.5", "UMLS:C1258248", "MESH:C473950"], "information_content": 100.0}
{"id": "UniProtKB:Q96GF1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF185 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GF1-1", "PR:Q96GF1-1", "ENSEMBL:ENSP00000320508", "ENSEMBL:ENSP00000320508.5", "ENSEMBL:ENSP00000427755", "ENSEMBL:ENSP00000427755.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDB2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-cell scaffold protein with ankyrin repeats isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDB2-1", "PR:Q8NDB2-1", "ENSEMBL:ENSP00000320509", "ENSEMBL:ENSP00000320509.4"], "information_content": 100.0}
{"id": "UniProtKB:Q2VPJ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 75B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2VPJ9-1", "PR:Q2VPJ9-1", "ENSEMBL:ENSP00000320520", "ENSEMBL:ENSP00000320520.8"], "information_content": 100.0}
{"id": "NCBIGene:60343", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM3A", "equivalent_identifiers": ["NCBIGene:60343", "ENSEMBL:ENSG00000071889", "HGNC:13749", "OMIM:300492", "UMLS:C1422181", "UniProtKB:D3DWX8", "ENSEMBL:ENSP00000320521", "ENSEMBL:ENSP00000320521.7", "UMLS:C3656982", "MESH:C582880", "UniProtKB:P98173", "PR:P98173", "UniProtKB:Q5HY75", "ENSEMBL:ENSP00000358655", "ENSEMBL:ENSP00000358655.3", "UniProtKB:Q9BU27", "ENSEMBL:ENSP00000396243", "ENSEMBL:ENSP00000396243.3", "ENSEMBL:ENSP00000404171", "ENSEMBL:ENSP00000404171.1", "ENSEMBL:ENSP00000406340", "ENSEMBL:ENSP00000406340.1", "ENSEMBL:ENSP00000478650", "ENSEMBL:ENSP00000478650.1"]}
{"id": "NCBIGene:259240", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WFDC9", "equivalent_identifiers": ["NCBIGene:259240", "ENSEMBL:ENSG00000180205", "HGNC:20380", "UMLS:C1426904", "UniProtKB:Q8NEX5", "PR:Q8NEX5", "ENSEMBL:ENSP00000320532", "ENSEMBL:ENSP00000320532.1"], "information_content": 100.0}
{"id": "UniProtKB:O95208-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epsin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95208-1", "PR:O95208-1", "ENSEMBL:ENSP00000320543", "ENSEMBL:ENSP00000320543.5"], "information_content": 100.0}
{"id": "NCBIGene:3338", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJC4", "equivalent_identifiers": ["NCBIGene:3338", "ENSEMBL:ENSG00000110011", "HGNC:5271", "OMIM:604189", "UMLS:C1415792", "UniProtKB:J3KNJ8", "ENSEMBL:ENSP00000320548", "ENSEMBL:ENSP00000320548.5", "UMLS:C1308413", "MESH:C110778", "UniProtKB:Q6PIN0", "UniProtKB:Q86VG4", "UniProtKB:Q9NNZ3", "PR:Q9NNZ3", "ENSEMBL:ENSP00000396896", "ENSEMBL:ENSP00000396896.2", "ENSEMBL:ENSP00000486499", "ENSEMBL:ENSP00000486499.2"]}
{"id": "NCBIGene:120775", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2D3", "equivalent_identifiers": ["NCBIGene:120775", "ENSEMBL:ENSG00000178358", "HGNC:15146", "UMLS:C1423241", "UniProtKB:Q8NGH3", "PR:Q8NGH3", "ENSEMBL:ENSP00000320560", "ENSEMBL:ENSP00000320560.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZS81-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat- and FYVE domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZS81-1", "PR:Q6ZS81-1", "ENSEMBL:ENSP00000320563", "ENSEMBL:ENSP00000320563.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXR8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inhibitor of growth protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXR8-1", "PR:Q9NXR8-1", "ENSEMBL:ENSP00000320566", "ENSEMBL:ENSP00000320566.5"], "information_content": 100.0}
{"id": "NCBIGene:51650", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPS33", "equivalent_identifiers": ["NCBIGene:51650", "ENSEMBL:ENSG00000090263", "HGNC:16634", "OMIM:611993", "UMLS:C1424454", "UniProtKB:A4D1T3", "UniProtKB:Q3KRB4", "UniProtKB:Q9Y291", "PR:Q9Y291", "ENSEMBL:ENSP00000320567", "ENSEMBL:ENSP00000320567.5", "ENSEMBL:ENSP00000376732", "ENSEMBL:ENSP00000376732.3", "ENSEMBL:ENSP00000417287", "ENSEMBL:ENSP00000417287.1", "ENSEMBL:ENSP00000418451", "ENSEMBL:ENSP00000418451.1"], "information_content": 92.8}
{"id": "UniProtKB:Q9UIG8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier organic anion transporter family member 3A1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIG8-1", "PR:Q9UIG8-1", "ENSEMBL:ENSP00000320634", "ENSEMBL:ENSP00000320634.6"], "information_content": 100.0}
{"id": "UniProtKB:A6NE52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 97 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NE52-1", "PR:A6NE52-1", "ENSEMBL:ENSP00000320648", "ENSEMBL:ENSP00000320648.8"], "information_content": 100.0}
{"id": "MONDO:0001502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retroperitoneum carcinoma", "equivalent_identifiers": ["MONDO:0001502", "DOID:12342", "UMLS:C0948749", "MEDDRA:10051974", "NCIT:C7352", "medgen:215301"], "information_content": 75.2}
{"id": "NCBIGene:220388", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC89", "equivalent_identifiers": ["NCBIGene:220388", "ENSEMBL:ENSG00000179071", "HGNC:26762", "UMLS:C1824615", "UniProtKB:Q8N998", "PR:Q8N998", "ENSEMBL:ENSP00000320649", "ENSEMBL:ENSP00000320649.3"], "information_content": 100.0}
{"id": "NCBIGene:51067", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YARS2", "equivalent_identifiers": ["NCBIGene:51067", "ENSEMBL:ENSG00000139131", "HGNC:24249", "OMIM:610957", "UMLS:C1823881", "UniProtKB:Q9Y2Z4", "PR:Q9Y2Z4", "ENSEMBL:ENSP00000320658", "ENSEMBL:ENSP00000320658.8"], "information_content": 95.4}
{"id": "UniProtKB:Q9HC35-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "echinoderm microtubule-associated protein-like 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HC35-1", "PR:Q9HC35-1", "ENSEMBL:ENSP00000320663", "ENSEMBL:ENSP00000320663.5"], "information_content": 100.0}
{"id": "NCBIGene:415117", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STX19", "equivalent_identifiers": ["NCBIGene:415117", "ENSEMBL:ENSG00000178750", "HGNC:19300", "UMLS:C1823144", "UniProtKB:Q8N4C7", "PR:Q8N4C7", "ENSEMBL:ENSP00000320679", "ENSEMBL:ENSP00000320679.2"], "information_content": 95.4}
{"id": "UniProtKB:Q96CQ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 25 member 36 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CQ1-1", "PR:Q96CQ1-1", "ENSEMBL:ENSP00000320688", "ENSEMBL:ENSP00000320688.6"], "information_content": 100.0}
{"id": "MONDO:0005803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinemic hypoglycemia", "equivalent_identifiers": ["MONDO:0005803", "DOID:13317", "OMIM.PS:256450", "orphanet:443095", "EFO:0007318", "UMLS:C1864903", "MEDDRA:10077216", "MEDDRA:10077227", "SNOMEDCT:42681006", "medgen:351247", "ICD10:E16.9", "HP:0000825"], "information_content": 78.3}
{"id": "NCBIGene:284417", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM150B", "equivalent_identifiers": ["NCBIGene:284417", "ENSEMBL:ENSG00000180061", "HGNC:34415", "OMIM:617291", "UMLS:C2680488", "UniProtKB:A6NC51", "PR:A6NC51", "ENSEMBL:ENSP00000320757", "ENSEMBL:ENSP00000320757.4", "UMLS:C4276798", "MESH:C000608261"], "information_content": 100.0}
{"id": "NCBIGene:205717", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USF3", "equivalent_identifiers": ["NCBIGene:205717", "ENSEMBL:ENSG00000176542", "HGNC:30494", "OMIM:617568", "UMLS:C4085399", "UniProtKB:Q68DE3", "PR:Q68DE3", "ENSEMBL:ENSP00000320794", "ENSEMBL:ENSP00000320794.4", "ENSEMBL:ENSP00000420721", "ENSEMBL:ENSP00000420721.1", "UMLS:C4522229", "UMLS:C4550016", "MESH:C000622661"], "information_content": 92.8}
{"id": "MONDO:0009509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Landau-Kleffner syndrome", "equivalent_identifiers": ["MONDO:0009509", "DOID:2538", "OMIM:245570", "orphanet:98818", "EFO:1001010", "UMLS:C0282512", "UMLS:C1832814", "MESH:C563392", "MESH:D018887", "MEDDRA:10052075", "MEDDRA:10052083", "NCIT:C168598", "NCIT:C84806", "SNOMEDCT:230438007", "medgen:79465", "icd11.foundation:348544271"], "information_content": 95.4}
{"id": "UniProtKB:Q9UJT1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin delta chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJT1-1", "PR:Q9UJT1-1", "ENSEMBL:ENSP00000320797", "ENSEMBL:ENSP00000320797.3", "ENSEMBL:ENSP00000468518", "ENSEMBL:ENSP00000468518.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WTQ1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D104A_HUMAN Beta-defensin 104 (sprot)", "equivalent_identifiers": ["UniProtKB:Q8WTQ1", "PR:Q8WTQ1", "ENSEMBL:ENSP00000320813", "ENSEMBL:ENSP00000320813.2", "ENSEMBL:ENSP00000322191", "ENSEMBL:ENSP00000322191.2", "ENSEMBL:ENSP00000481976", "ENSEMBL:ENSP00000481976.1", "ENSEMBL:ENSP00000494886", "ENSEMBL:ENSP00000494886.1", "ENSEMBL:ENSP00000495491", "ENSEMBL:ENSP00000495491.1"], "information_content": 100.0}
{"id": "MONDO:0032912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome 11", "equivalent_identifiers": ["MONDO:0032912", "DOID:0112372", "OMIM:618779", "UMLS:C5241442", "medgen:1717402"], "information_content": 100.0}
{"id": "UniProtKB:Q6W3E5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycerophosphodiester phosphodiesterase domain-containing protein 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6W3E5-2", "PR:Q6W3E5-2", "ENSEMBL:ENSP00000320815", "ENSEMBL:ENSP00000320815.4"], "information_content": 100.0}
{"id": "NCBIGene:10749", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIF1C", "equivalent_identifiers": ["NCBIGene:10749", "ENSEMBL:ENSG00000129250", "HGNC:6317", "OMIM:603060", "UMLS:C1416632", "UniProtKB:O43896", "PR:O43896", "ENSEMBL:ENSP00000320821", "ENSEMBL:ENSP00000320821.5", "UMLS:C1431451", "UMLS:C5444819", "MESH:C114063"], "information_content": 95.4}
{"id": "MONDO:0007990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple benign circumferential skin creases on limbs", "equivalent_identifiers": ["MONDO:0007990", "DOID:0112241", "orphanet:2505", "UMLS:C0473586", "MESH:C537575", "SNOMEDCT:239142006", "medgen:96881"], "information_content": 92.8}
{"id": "NCBIGene:811", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CALR", "equivalent_identifiers": ["NCBIGene:811", "ENSEMBL:ENSG00000179218", "HGNC:1455", "OMIM:109091", "UMLS:C1413096", "UniProtKB:P27797", "PR:P27797", "ENSEMBL:ENSP00000320866", "ENSEMBL:ENSP00000320866.4", "ENSEMBL:ENSP00000466037", "ENSEMBL:ENSP00000466037.2", "UMLS:C3529617", "MESH:C576483", "UniProtKB:V9HW88"], "information_content": 90.9}
{"id": "UniProtKB:Q8WV44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM41 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WV44-1", "PR:Q8WV44-1", "ENSEMBL:ENSP00000320869", "ENSEMBL:ENSP00000320869.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spastin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBP0-1", "PR:Q9UBP0-1", "ENSEMBL:ENSP00000320885", "ENSEMBL:ENSP00000320885.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NP71-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carbohydrate-responsive element-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP71-1", "PR:Q9NP71-1", "ENSEMBL:ENSP00000320886", "ENSEMBL:ENSP00000320886.3"], "information_content": 100.0}
{"id": "NCBIGene:165918", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF168", "equivalent_identifiers": ["NCBIGene:165918", "ENSEMBL:ENSG00000163961", "HGNC:26661", "OMIM:612688", "UMLS:C1538866", "UniProtKB:Q8IYW5", "PR:Q8IYW5", "ENSEMBL:ENSP00000320898", "ENSEMBL:ENSP00000320898.3", "UMLS:C2713934", "MESH:C535210"], "information_content": 95.4}
{"id": "UniProtKB:Q8TF74-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WAS/WASL-interacting protein family member 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF74-1", "PR:Q8TF74-1", "ENSEMBL:ENSP00000320924", "ENSEMBL:ENSP00000320924.4", "ENSEMBL:ENSP00000462350", "ENSEMBL:ENSP00000462350.1", "ENSEMBL:ENSP00000462826", "ENSEMBL:ENSP00000462826.1"], "information_content": 100.0}
{"id": "UniProtKB:P14672-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 2, facilitated glucose transporter member 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P14672-1", "PR:P14672-1", "ENSEMBL:ENSP00000320935", "ENSEMBL:ENSP00000320935.8", "ENSEMBL:ENSP00000499804", "ENSEMBL:ENSP00000499804.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96F46-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-17 receptor A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96F46-1", "PR:Q96F46-1", "ENSEMBL:ENSP00000320936", "ENSEMBL:ENSP00000320936.6"], "information_content": 100.0}
{"id": "UniProtKB:A5YKK6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCR4-NOT transcription complex subunit 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:A5YKK6-1", "PR:A5YKK6-1", "ENSEMBL:ENSP00000320949", "ENSEMBL:ENSP00000320949.5"], "information_content": 100.0}
{"id": "UniProtKB:P81534", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D103A_HUMAN Beta-defensin 103 (sprot)", "equivalent_identifiers": ["UniProtKB:P81534", "PR:P81534", "ENSEMBL:ENSP00000320951", "ENSEMBL:ENSP00000320951.3", "ENSEMBL:ENSP00000324633", "ENSEMBL:ENSP00000324633.3", "ENSEMBL:ENSP00000480773", "ENSEMBL:ENSP00000480773.1", "ENSEMBL:ENSP00000493616", "ENSEMBL:ENSP00000493616.1", "ENSEMBL:ENSP00000495040", "ENSEMBL:ENSP00000495040.1", "UMLS:C2984540"], "information_content": 92.8}
{"id": "MONDO:0018018", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wild type ATTR amyloidosis", "equivalent_identifiers": ["MONDO:0018018", "DOID:0080937", "orphanet:330001", "UMLS:C0342623", "MEDDRA:10083919", "SNOMEDCT:237877004", "medgen:87446"], "information_content": 100.0}
{"id": "UniProtKB:Q8N8G2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription cofactor vestigial-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8G2-1", "PR:Q8N8G2-1", "ENSEMBL:ENSP00000320957", "ENSEMBL:ENSP00000320957.5"], "information_content": 100.0}
{"id": "MONDO:0000452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive relapsing multiple sclerosis", "equivalent_identifiers": ["MONDO:0000452", "DOID:0050785", "UMLS:C0393666", "MEDDRA:10067063", "SNOMEDCT:230374002", "SNOMEDCT:724778008", "medgen:95982"], "information_content": 100.0}
{"id": "MONDO:0956985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lipofibromatosis-like neural tumor", "equivalent_identifiers": ["MONDO:0956985", "DOID:0080894"], "information_content": 100.0}
{"id": "MONDO:0018761", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SMARCA4-deficient sarcoma of thorax", "equivalent_identifiers": ["MONDO:0018761", "DOID:0080532", "orphanet:466962", "UMLS:C5554190", "MEDDRA:10086058", "NCIT:C183115", "medgen:1806595"], "information_content": 92.8}
{"id": "UniProtKB:Q6UXG3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CMRF35-like molecule 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXG3-1", "PR:Q6UXG3-1", "ENSEMBL:ENSP00000321005", "ENSEMBL:ENSP00000321005.3"], "information_content": 100.0}
{"id": "NCBIGene:286343", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LURAP1L", "equivalent_identifiers": ["NCBIGene:286343", "ENSEMBL:ENSG00000153714", "HGNC:31452", "OMIM:616130", "UMLS:C1538365", "UniProtKB:Q8IV03", "PR:Q8IV03", "ENSEMBL:ENSP00000321026", "ENSEMBL:ENSP00000321026.3"], "information_content": 100.0}
{"id": "MONDO:0012813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 29", "equivalent_identifiers": ["MONDO:0012813", "DOID:0110378", "OMIM:612165", "UMLS:C2677325", "MESH:C567403", "medgen:393710"], "information_content": 100.0}
{"id": "NCBIGene:255043", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM86B", "equivalent_identifiers": ["NCBIGene:255043", "ENSEMBL:ENSG00000180089", "HGNC:28448", "OMIM:617806", "UMLS:C1823347", "UniProtKB:Q8N661", "PR:Q8N661", "ENSEMBL:ENSP00000321038", "ENSEMBL:ENSP00000321038.3"], "information_content": 95.4}
{"id": "UniProtKB:P23368-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NAD-dependent malic enzyme, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P23368-1", "PR:P23368-1", "ENSEMBL:ENSP00000321070", "ENSEMBL:ENSP00000321070.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYZ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialic acid-binding Ig-like lectin 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYZ4-1", "PR:Q9NYZ4-1", "ENSEMBL:ENSP00000321077", "ENSEMBL:ENSP00000321077.2"], "information_content": 100.0}
{"id": "UniProtKB:P20366-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protachykinin-1 isoform Beta (human)", "equivalent_identifiers": ["UniProtKB:P20366-1", "PR:P20366-1", "ENSEMBL:ENSP00000321106", "ENSEMBL:ENSP00000321106.5"], "information_content": 100.0}
{"id": "MONDO:0006868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurogenic bowel", "equivalent_identifiers": ["MONDO:0006868", "DOID:13419", "EFO:1001061", "UMLS:C0695242", "MESH:D055496", "MEDDRA:10048657", "SNOMEDCT:425671009", "medgen:151969", "ICD9:564.81"], "information_content": 100.0}
{"id": "UniProtKB:Q92563-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testican-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92563-1", "PR:Q92563-1", "ENSEMBL:ENSP00000321108", "ENSEMBL:ENSP00000321108.4", "ENSEMBL:ENSP00000362201", "ENSEMBL:ENSP00000362201.2"], "information_content": 100.0}
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{"id": "NCBIGene:196335", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR56B4", "equivalent_identifiers": ["NCBIGene:196335", "ENSEMBL:ENSG00000180919", "HGNC:15248", "UMLS:C1423337", "UniProtKB:Q8NH76", "PR:Q8NH76", "ENSEMBL:ENSP00000321196", "ENSEMBL:ENSP00000321196.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFZ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TNFAIP3-interacting protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFZ5-1", "PR:Q8NFZ5-1", "ENSEMBL:ENSP00000321203", "ENSEMBL:ENSP00000321203.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH2B adapter protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRF2-1", "PR:Q9NRF2-1", "ENSEMBL:ENSP00000321221", "ENSEMBL:ENSP00000321221.7", "ENSEMBL:ENSP00000481709", "ENSEMBL:ENSP00000481709.1", "ENSEMBL:ENSP00000507475", "ENSEMBL:ENSP00000507475.1"], "information_content": 100.0}
{"id": "MONDO:0013267", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal 16p11.2 microdeletion syndrome", "equivalent_identifiers": ["MONDO:0013267", "DOID:0060398", "OMIM:613444", "orphanet:261222", "UMLS:C3150701", "UMLS:C3150702", "UMLS:C4518824", "SNOMEDCT:733521003", "medgen:462051"], "information_content": 100.0}
{"id": "MONDO:0044721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to LAT deficiency", "equivalent_identifiers": ["MONDO:0044721", "DOID:0111983", "OMIM:617514", "orphanet:504523", "UMLS:C4479588", "SNOMEDCT:1179284005", "medgen:1384124"], "information_content": 100.0}
{"id": "UniProtKB:Q96PM5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RING finger and CHY zinc finger domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PM5-1", "PR:Q96PM5-1", "ENSEMBL:ENSP00000321239", "ENSEMBL:ENSP00000321239.5"], "information_content": 100.0}
{"id": "UniProtKB:P37837-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transaldolase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P37837-1", "PR:P37837-1", "ENSEMBL:ENSP00000321259", "ENSEMBL:ENSP00000321259.3"], "information_content": 100.0}
{"id": "NCBIGene:1351", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX8A", "equivalent_identifiers": ["NCBIGene:1351", "ENSEMBL:ENSG00000176340", "HGNC:2294", "OMIM:123870", "UMLS:C1413661", "UniProtKB:P10176", "PR:P10176", "ENSEMBL:ENSP00000321260", "ENSEMBL:ENSP00000321260.3", "UniProtKB:Q53XN1"], "information_content": 89.4}
{"id": "NCBIGene:5827", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PXMP2", "equivalent_identifiers": ["NCBIGene:5827", "ENSEMBL:ENSG00000176894", "HGNC:9716", "OMIM:617399", "UMLS:C1419148", "UniProtKB:Q9NR77", "PR:Q9NR77", "ENSEMBL:ENSP00000321271", "ENSEMBL:ENSP00000321271.3", "UMLS:C1454354", "MESH:C489785"], "information_content": 100.0}
{"id": "MONDO:0014625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 33", "equivalent_identifiers": ["MONDO:0014625", "DOID:0080463", "OMIM:616409", "UMLS:C4225337", "medgen:897930"], "information_content": 100.0}
{"id": "NCBIGene:51480", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VCX2", "equivalent_identifiers": ["NCBIGene:51480", "ENSEMBL:ENSG00000177504", "HGNC:18158", "OMIM:300532", "UMLS:C1540174", "UniProtKB:Q9H322", "PR:Q9H322", "ENSEMBL:ENSP00000321309", "ENSEMBL:ENSP00000321309.4"], "information_content": 100.0}
{"id": "NCBIGene:51236", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HGH1", "equivalent_identifiers": ["NCBIGene:51236", "ENSEMBL:ENSG00000235173", "HGNC:24161", "OMIM:620684", "UMLS:C1824240", "UniProtKB:Q96BK8", "UniProtKB:Q9BTY7", "PR:Q9BTY7", "ENSEMBL:ENSP00000321320", "ENSEMBL:ENSP00000321320.5"], "information_content": 92.8}
{"id": "NCBIGene:2149", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "F2R", "equivalent_identifiers": ["NCBIGene:2149", "ENSEMBL:ENSG00000181104", "HGNC:3537", "OMIM:187930", "UMLS:C1366449", "UniProtKB:P25116", "PR:P25116", "ENSEMBL:ENSP00000321326", "ENSEMBL:ENSP00000321326.4", "UMLS:C4048327"], "information_content": 79.6}
{"id": "NCBIGene:9781", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF144A", "equivalent_identifiers": ["NCBIGene:9781", "ENSEMBL:ENSG00000151692", "HGNC:20457", "OMIM:619454", "UMLS:C1426950", "UniProtKB:P50876", "PR:P50876", "ENSEMBL:ENSP00000321330", "ENSEMBL:ENSP00000321330.6", "UMLS:C3491311", "MESH:C571196"], "information_content": 95.4}
{"id": "NCBIGene:4018", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LPA", "equivalent_identifiers": ["NCBIGene:4018", "ENSEMBL:ENSG00000198670", "HGNC:6667", "OMIM:152200", "UMLS:C1439335", "UniProtKB:P08519", "PR:P08519", "ENSEMBL:ENSP00000321334", "ENSEMBL:ENSP00000321334.6", "UMLS:C4553379", "UMLS:C5433300", "MESH:C000708987"], "information_content": 78.3}
{"id": "UniProtKB:Q5VWK5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-23 receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VWK5-1", "PR:Q5VWK5-1", "ENSEMBL:ENSP00000321345", "ENSEMBL:ENSP00000321345.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHH1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin polyglutamylase TTLL11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHH1-1", "PR:Q8NHH1-1", "ENSEMBL:ENSP00000321346", "ENSEMBL:ENSP00000321346.6"], "information_content": 100.0}
{"id": "UniProtKB:O60879-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein diaphanous homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60879-1", "PR:O60879-1", "ENSEMBL:ENSP00000321348", "ENSEMBL:ENSP00000321348.8"], "information_content": 100.0}
{"id": "MONDO:0012196", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant auditory neuropathy 1", "equivalent_identifiers": ["MONDO:0012196", "DOID:0060690", "OMIM:609129", "UMLS:C1836743", "MESH:C563790", "medgen:322984"], "information_content": 100.0}
{"id": "MONDO:0008259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial spontaneous pneumothorax", "equivalent_identifiers": ["MONDO:0008259", "DOID:0080218", "OMIM:173600", "orphanet:2903", "UMLS:C1868193", "UMLS:C4275252", "MESH:C566795", "MEDDRA:10073762", "SNOMEDCT:328561000119107", "SNOMEDCT:715219001", "medgen:357445", "icd11.foundation:319022944"], "information_content": 100.0}
{"id": "NCBIGene:162517", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXO39", "equivalent_identifiers": ["NCBIGene:162517", "ENSEMBL:ENSG00000177294", "HGNC:28565", "OMIM:609106", "UMLS:C1539493", "UniProtKB:Q8N4B4", "PR:Q8N4B4", "ENSEMBL:ENSP00000321386", "ENSEMBL:ENSP00000321386.4", "UMLS:C3177780", "MESH:C559726"], "information_content": 100.0}
{"id": "UniProtKB:Q06495-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium-dependent phosphate transport protein 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q06495-1", "PR:Q06495-1", "ENSEMBL:ENSP00000321424", "ENSEMBL:ENSP00000321424.4"], "information_content": 100.0}
{"id": "MONDO:0004736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inborn disorder of amino acid metabolism", "equivalent_identifiers": ["MONDO:0004736", "DOID:9252", "UMLS:C0002514", "UMLS:C5886841", "MESH:D000592", "MEDDRA:10001938", "MEDDRA:10021602", "MEDDRA:10045768", "MEDDRA:10084108", "NCIT:C97090", "SNOMEDCT:42930003", "medgen:1857273", "ICD10:E72.9", "ICD9:270"], "information_content": 61.4}
{"id": "UniProtKB:Q8NCM2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated delayed rectifier potassium channel KCNH5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCM2-1", "PR:Q8NCM2-1", "ENSEMBL:ENSP00000321427", "ENSEMBL:ENSP00000321427.7"], "information_content": 100.0}
{"id": "NCBIGene:9242", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MSC", "equivalent_identifiers": ["NCBIGene:9242", "ENSEMBL:ENSG00000178860", "HGNC:7321", "OMIM:603628", "UMLS:C1334531", "UniProtKB:O60682", "PR:O60682", "ENSEMBL:ENSP00000321445", "ENSEMBL:ENSP00000321445.4", "UMLS:C1431322", "MESH:C112467"], "information_content": 100.0}
{"id": "NCBIGene:256148", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4S1", "equivalent_identifiers": ["NCBIGene:256148", "ENSEMBL:ENSG00000176555", "HGNC:14705", "UMLS:C1422859", "UniProtKB:A0A126GVU1", "UniProtKB:Q8NGB4", "PR:Q8NGB4", "ENSEMBL:ENSP00000321447", "ENSEMBL:ENSP00000321447.1"], "information_content": 100.0}
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{"id": "MONDO:0011327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal intranuclear inclusion disease", "equivalent_identifiers": ["MONDO:0011327", "DOID:0081294", "OMIM:603472", "orphanet:2289", "UMLS:C1863843", "MESH:C537395", "MEDDRA:10084235", "NCIT:C122655", "SNOMEDCT:715437003", "medgen:355075", "icd11.foundation:693937860"], "information_content": 100.0}
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{"id": "NCBIGene:147685", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C19orf18", "equivalent_identifiers": ["NCBIGene:147685", "ENSEMBL:ENSG00000177025", "HGNC:28642", "UMLS:C1428726", "UniProtKB:Q8NEA5", "PR:Q8NEA5", "ENSEMBL:ENSP00000321519", "ENSEMBL:ENSP00000321519.2"], "information_content": 95.4}
{"id": "MONDO:0013254", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly, seizures, and developmental delay", "equivalent_identifiers": ["MONDO:0013254", "DOID:0080457", "OMIM:613402", "UMLS:C3150667", "medgen:462017"], "information_content": 100.0}
{"id": "NCBIGene:3996", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LLGL1", "equivalent_identifiers": ["NCBIGene:3996", "ENSEMBL:ENSG00000131899", "HGNC:6628", "OMIM:600966", "UMLS:C1416871", "UniProtKB:Q15334", "PR:Q15334", "ENSEMBL:ENSP00000321537", "ENSEMBL:ENSP00000321537.4", "UMLS:C0300210", "UMLS:C2984547", "MESH:C097906"], "information_content": 92.8}
{"id": "NCBIGene:9920", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KBTBD11", "equivalent_identifiers": ["NCBIGene:9920", "ENSEMBL:ENSG00000176595", "HGNC:29104", "OMIM:618794", "UMLS:C1825643", "UniProtKB:O94819", "PR:O94819", "ENSEMBL:ENSP00000321544", "ENSEMBL:ENSP00000321544.3", "ENSEMBL:ENSP00000481889", "ENSEMBL:ENSP00000481889.1"], "information_content": 95.4}
{"id": "UniProtKB:Q969J3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BLOC-1-related complex subunit 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969J3-1", "PR:Q969J3-1", "ENSEMBL:ENSP00000321546", "ENSEMBL:ENSP00000321546.4", "ENSEMBL:ENSP00000486120", "ENSEMBL:ENSP00000486120.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96PD2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "discoidin, CUB and LCCL domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PD2-1", "PR:Q96PD2-1", "ENSEMBL:ENSP00000321573", "ENSEMBL:ENSP00000321573.6"], "information_content": 100.0}
{"id": "NCBIGene:3615", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IMPDH2", "equivalent_identifiers": ["NCBIGene:3615", "ENSEMBL:ENSG00000178035", "HGNC:6053", "OMIM:146691", "UMLS:C1416428", "UniProtKB:A0A7I2YQK5", "ENSEMBL:ENSP00000503874", "ENSEMBL:ENSP00000503874.1", "UniProtKB:E7ETK5", "ENSEMBL:ENSP00000403502", "ENSEMBL:ENSP00000403502.2", "UniProtKB:H0Y4R1", "ENSEMBL:ENSP00000393525", "ENSEMBL:ENSP00000393525.2", "UniProtKB:P12268", "PR:P12268", "ENSEMBL:ENSP00000321584", "ENSEMBL:ENSP00000321584.4", "UMLS:C1512600"], "information_content": 89.4}
{"id": "UniProtKB:Q14194-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dihydropyrimidinase-related protein 1 isoform hLCRMP-1 (human)", "equivalent_identifiers": ["UniProtKB:Q14194-2", "PR:Q14194-2", "ENSEMBL:ENSP00000321606", "ENSEMBL:ENSP00000321606.7"], "information_content": 100.0}
{"id": "NCBIGene:55139", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKZF1", "equivalent_identifiers": ["NCBIGene:55139", "ENSEMBL:ENSG00000163516", "HGNC:25527", "OMIM:617541", "UMLS:C1823698", "UniProtKB:B8ZZS4", "ENSEMBL:ENSP00000386815", "ENSEMBL:ENSP00000386815.1", "UMLS:C4508081", "MESH:C000621130", "UniProtKB:Q9H8Y5", "PR:Q9H8Y5", "ENSEMBL:ENSP00000321617", "ENSEMBL:ENSP00000321617.5", "ENSEMBL:ENSP00000386337", "ENSEMBL:ENSP00000386337.3"], "information_content": 95.4}
{"id": "UniProtKB:Q8N957-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N957-2", "PR:Q8N957-2", "ENSEMBL:ENSP00000321627", "ENSEMBL:ENSP00000321627.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13472-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA topoisomerase 3-alpha isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q13472-1", "PR:Q13472-1", "ENSEMBL:ENSP00000321636", "ENSEMBL:ENSP00000321636.5", "ENSEMBL:ENSP00000491689", "ENSEMBL:ENSP00000491689.1"], "information_content": 100.0}
{"id": "UniProtKB:P30307-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M-phase inducer phosphatase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30307-1", "PR:P30307-1", "ENSEMBL:ENSP00000321656", "ENSEMBL:ENSP00000321656.6", "ENSEMBL:ENSP00000424795", "ENSEMBL:ENSP00000424795.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86SG2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86SG2-1", "PR:Q86SG2-1", "ENSEMBL:ENSP00000321679", "ENSEMBL:ENSP00000321679.4", "ENSEMBL:ENSP00000398987", "ENSEMBL:ENSP00000398987.1"], "information_content": 100.0}
{"id": "UniProtKB:P50221-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein MOX-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P50221-1", "PR:P50221-1", "ENSEMBL:ENSP00000321684", "ENSEMBL:ENSP00000321684.4"], "information_content": 100.0}
{"id": "MONDO:0008059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Naegeli-Franceschetti-Jadassohn syndrome", "equivalent_identifiers": ["MONDO:0008059", "DOID:0111528", "OMIM:161000", "orphanet:69087", "UMLS:C0343111", "MESH:C538331", "SNOMEDCT:239084001", "medgen:91010", "icd11.foundation:352035640"], "information_content": 100.0}
{"id": "UniProtKB:O75410-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transforming acidic coiled-coil-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75410-1", "PR:O75410-1", "ENSEMBL:ENSP00000321703", "ENSEMBL:ENSP00000321703.4"], "information_content": 100.0}
{"id": "MONDO:0858959", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polymorphous low grade neuroepithelial tumor of the young", "equivalent_identifiers": ["MONDO:0858959", "DOID:0081305", "UMLS:C5556330", "NCIT:C180378", "medgen:1792771"], "information_content": 95.4}
{"id": "NCBIGene:50628", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GEMIN4", "equivalent_identifiers": ["NCBIGene:50628", "ENSEMBL:ENSG00000179409", "HGNC:15717", "OMIM:606969", "UMLS:C1423680", "UniProtKB:I3L2C7", "ENSEMBL:ENSP00000459565", "ENSEMBL:ENSP00000459565.1", "UMLS:C1438904", "MESH:C406815", "UniProtKB:P57678", "PR:P57678", "ENSEMBL:ENSP00000321706", "ENSEMBL:ENSP00000321706.5", "UniProtKB:Q8WUM5", "UniProtKB:Q9HC39"], "information_content": 83.6}
{"id": "UniProtKB:Q8TF46-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DIS3-like exonuclease 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF46-1", "PR:Q8TF46-1", "ENSEMBL:ENSP00000321711", "ENSEMBL:ENSP00000321711.4"], "information_content": 100.0}
{"id": "NCBIGene:23539", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC16A8", "equivalent_identifiers": ["NCBIGene:23539", "ENSEMBL:ENSG00000100156", "HGNC:16270", "OMIM:610409", "UMLS:C1424140", "UniProtKB:O95907", "PR:O95907", "ENSEMBL:ENSP00000321735", "ENSEMBL:ENSP00000321735.5", "ENSEMBL:ENSP00000506669", "ENSEMBL:ENSP00000506669.1", "UMLS:C4521277"], "information_content": 100.0}
{"id": "UniProtKB:P62807", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H2B1C_HUMAN Histone H2B type 1-C/E/F/G/I (sprot)", "equivalent_identifiers": ["UniProtKB:P62807", "PR:P62807", "ENSEMBL:ENSP00000321744", "ENSEMBL:ENSP00000321744.4", "ENSEMBL:ENSP00000348924", "ENSEMBL:ENSP00000348924.3", "ENSEMBL:ENSP00000366962", "ENSEMBL:ENSP00000366962.3", "ENSEMBL:ENSP00000380180", "ENSEMBL:ENSP00000380180.1", "ENSEMBL:ENSP00000445633", "ENSEMBL:ENSP00000445633.2", "ENSEMBL:ENSP00000483237", "ENSEMBL:ENSP00000483237.2", "ENSEMBL:ENSP00000489317", "ENSEMBL:ENSP00000489317.1", "ENSEMBL:ENSP00000516775", "ENSEMBL:ENSP00000516775.1", "UMLS:C5202735"], "information_content": 82.1}
{"id": "UniProtKB:P55075-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibroblast growth factor 8 isoform hFGF-8F (human)", "equivalent_identifiers": ["UniProtKB:P55075-4", "PR:P55075-4", "ENSEMBL:ENSP00000321797", "ENSEMBL:ENSP00000321797.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4S7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "progestin and adipoQ receptor family member 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4S7-1", "PR:Q8N4S7-1", "ENSEMBL:ENSP00000321804", "ENSEMBL:ENSP00000321804.8"], "information_content": 100.0}
{"id": "MONDO:0013780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 63", "equivalent_identifiers": ["MONDO:0013780", "DOID:0110385", "OMIM:614494", "UMLS:C3281002", "medgen:482632"], "information_content": 100.0}
{"id": "MONDO:0024569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 8", "equivalent_identifiers": ["MONDO:0024569", "DOID:0111439", "OMIM:616648", "UMLS:C4085249", "medgen:898923"], "information_content": 100.0}
{"id": "UniProtKB:Q99578-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTP-binding protein Rit2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99578-1", "PR:Q99578-1", "ENSEMBL:ENSP00000321805", "ENSEMBL:ENSP00000321805.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3H1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA dimethylallyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3H1-1", "PR:Q9H3H1-1", "ENSEMBL:ENSP00000321810", "ENSEMBL:ENSP00000321810.5"], "information_content": 100.0}
{"id": "UniProtKB:Q5T5C0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-binding protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T5C0-1", "PR:Q5T5C0-1", "ENSEMBL:ENSP00000321826", "ENSEMBL:ENSP00000321826.6"], "information_content": 100.0}
{"id": "UniProtKB:P43268-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS translocation variant 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43268-1", "PR:P43268-1", "ENSEMBL:ENSP00000321835", "ENSEMBL:ENSP00000321835.4", "ENSEMBL:ENSP00000377273", "ENSEMBL:ENSP00000377273.1", "ENSEMBL:ENSP00000465718", "ENSEMBL:ENSP00000465718.1"], "information_content": 100.0}
{"id": "NCBIGene:79891", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF671", "equivalent_identifiers": ["NCBIGene:79891", "ENSEMBL:ENSG00000083814", "HGNC:26279", "UMLS:C1538235", "UniProtKB:B7Z1N1", "UMLS:C4276526", "MESH:C000609488", "UniProtKB:Q8TAW3", "PR:Q8TAW3", "ENSEMBL:ENSP00000321848", "ENSEMBL:ENSP00000321848.5"], "information_content": 95.4}
{"id": "UniProtKB:P08697-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-2-antiplasmin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08697-1", "PR:P08697-1", "ENSEMBL:ENSP00000321853", "ENSEMBL:ENSP00000321853.3", "ENSEMBL:ENSP00000371493", "ENSEMBL:ENSP00000371493.4", "ENSEMBL:ENSP00000402286", "ENSEMBL:ENSP00000402286.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96HD1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein disulfide isomerase CRELD1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96HD1-2", "PR:Q96HD1-2", "ENSEMBL:ENSP00000321856", "ENSEMBL:ENSP00000321856.5"], "information_content": 100.0}
{"id": "NCBIGene:10331", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B3GNT3", "equivalent_identifiers": ["NCBIGene:10331", "ENSEMBL:ENSG00000179913", "HGNC:13528", "OMIM:605863", "UMLS:C1422039", "UniProtKB:Q9Y2A9", "PR:Q9Y2A9", "ENSEMBL:ENSP00000321874", "ENSEMBL:ENSP00000321874.5", "ENSEMBL:ENSP00000472638", "ENSEMBL:ENSP00000472638.1", "UMLS:C4276548", "MESH:C000609418"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEE6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box and leucine-rich repeat protein 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEE6-1", "PR:Q8NEE6-1", "ENSEMBL:ENSP00000321927", "ENSEMBL:ENSP00000321927.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BWQ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein lifeguard 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWQ8-1", "PR:Q9BWQ8-1", "ENSEMBL:ENSP00000321951", "ENSEMBL:ENSP00000321951.3"], "information_content": 100.0}
{"id": "NCBIGene:387758", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FIBIN", "equivalent_identifiers": ["NCBIGene:387758", "ENSEMBL:ENSG00000176971", "HGNC:33747", "OMIM:617085", "UMLS:C2681529", "UniProtKB:Q8TAL6", "PR:Q8TAL6", "ENSEMBL:ENSP00000321962", "ENSEMBL:ENSP00000321962.2"], "information_content": 100.0}
{"id": "MONDO:0010581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetes insipidus, nephrogenic, X-linked", "equivalent_identifiers": ["MONDO:0010581", "DOID:0081060", "OMIM:304800", "UMLS:C1563705", "medgen:288785"], "information_content": 100.0}
{"id": "MONDO:0012289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 5", "equivalent_identifiers": ["MONDO:0012289", "DOID:0080096", "OMIM:609524", "orphanet:171445", "UMLS:C1836050", "MESH:C537932", "medgen:372186"], "information_content": 100.0}
{"id": "MONDO:0012215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myotilinopathy", "equivalent_identifiers": ["MONDO:0012215", "DOID:0080094", "OMIM:609200", "orphanet:266", "orphanet:268129", "orphanet:98911", "UMLS:C1834659", "UMLS:C1866785", "UMLS:C3714934", "UMLS:C4304304", "UMLS:C4707358", "MESH:C000598645", "MESH:C535906", "MESH:C563775", "SNOMEDCT:719985001", "SNOMEDCT:765092004", "SNOMEDCT:765196004", "medgen:811509"], "information_content": 100.0}
{"id": "NCBIGene:201516", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZSCAN4", "equivalent_identifiers": ["NCBIGene:201516", "ENSEMBL:ENSG00000180532", "HGNC:23709", "OMIM:613419", "UMLS:C1538256", "UniProtKB:Q8NAM6", "PR:Q8NAM6", "ENSEMBL:ENSP00000321963", "ENSEMBL:ENSP00000321963.4", "UMLS:C3711709", "MESH:C582979"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXI1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial Rho GTPase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXI1-1", "PR:Q8IXI1-1", "ENSEMBL:ENSP00000321971", "ENSEMBL:ENSP00000321971.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8WU66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thrombospondin-type laminin G domain and EAR repeat-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WU66-1", "PR:Q8WU66-1", "ENSEMBL:ENSP00000321987", "ENSEMBL:ENSP00000321987.4"], "information_content": 100.0}
{"id": "MONDO:0010261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, syndromic 2", "equivalent_identifiers": ["MONDO:0010261", "DOID:0111809", "OMIM:300166", "orphanet:2712", "UMLS:C1846265", "MESH:C537465", "SNOMEDCT:699300009", "medgen:337547"], "information_content": 100.0}
{"id": "NCBIGene:79751", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A22", "equivalent_identifiers": ["NCBIGene:79751", "ENSEMBL:ENSG00000177542", "HGNC:19954", "OMIM:609302", "UMLS:C1426556", "UniProtKB:Q9H936", "PR:Q9H936", "ENSEMBL:ENSP00000322020", "ENSEMBL:ENSP00000322020.5", "ENSEMBL:ENSP00000437236", "ENSEMBL:ENSP00000437236.1", "ENSEMBL:ENSP00000486058", "ENSEMBL:ENSP00000486058.1", "UMLS:C1432484", "MESH:C499215"], "information_content": 95.4}
{"id": "NCBIGene:730", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C7", "equivalent_identifiers": ["NCBIGene:730", "ENSEMBL:ENSG00000112936", "HGNC:1346", "OMIM:217070", "UMLS:C1413019", "UniProtKB:P10643", "PR:P10643", "ENSEMBL:ENSP00000322061", "ENSEMBL:ENSP00000322061.9", "ENSEMBL:ENSP00000512566", "ENSEMBL:ENSP00000512566.1", "UniProtKB:Q05CI3"], "information_content": 90.9}
{"id": "NCBIGene:84938", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATG4C", "equivalent_identifiers": ["NCBIGene:84938", "ENSEMBL:ENSG00000125703", "HGNC:16040", "OMIM:611339", "UMLS:C1825495", "UniProtKB:A0A384MTY5", "UniProtKB:Q96DT6", "PR:Q96DT6", "ENSEMBL:ENSP00000322159", "ENSEMBL:ENSP00000322159.4", "ENSEMBL:ENSP00000360161", "ENSEMBL:ENSP00000360161.3", "UMLS:C3489603"], "information_content": 89.4}
{"id": "NCBIGene:375189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PFN4", "equivalent_identifiers": ["NCBIGene:375189", "ENSEMBL:ENSG00000176732", "HGNC:31103", "OMIM:620046", "UMLS:C1429077", "UniProtKB:Q8NHR9", "PR:Q8NHR9", "ENSEMBL:ENSP00000322170", "ENSEMBL:ENSP00000322170.4"], "information_content": 95.4}
{"id": "MONDO:0001885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lateral cystocele", "equivalent_identifiers": ["MONDO:0001885", "DOID:14130", "UMLS:C2711750", "SNOMEDCT:441891001", "medgen:751516", "ICD10:N81.12", "ICD9:618.02"], "information_content": 100.0}
{"id": "NCBIGene:79075", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DSCC1", "equivalent_identifiers": ["NCBIGene:79075", "ENSEMBL:ENSG00000136982", "HGNC:24453", "OMIM:613203", "UMLS:C2239361", "UniProtKB:Q9BVC3", "PR:Q9BVC3", "ENSEMBL:ENSP00000322180", "ENSEMBL:ENSP00000322180.4", "UMLS:C1311622", "MESH:C477292"], "information_content": 89.4}
{"id": "NCBIGene:8818", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPM2", "equivalent_identifiers": ["NCBIGene:8818", "ENSEMBL:ENSG00000136908", "HGNC:3006", "OMIM:603564", "UMLS:C1414138", "UniProtKB:O94777", "PR:O94777", "ENSEMBL:ENSP00000322181", "ENSEMBL:ENSP00000322181.8", "UMLS:C0758763", "MESH:C115077"], "information_content": 90.9}
{"id": "MONDO:0000365", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary congenital glaucoma", "equivalent_identifiers": ["MONDO:0000365", "DOID:0050593", "UMLS:C1533041", "NCIT:C150251", "SNOMEDCT:415176004", "medgen:288550", "icd11.foundation:517092878", "HP:0008007"], "information_content": 88.2}
{"id": "NCBIGene:643834", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGA3", "equivalent_identifiers": ["NCBIGene:643834", "ENSEMBL:ENSG00000229859", "HGNC:8885", "OMIM:169710", "UMLS:C1418498", "UniProtKB:P0DJD8", "PR:P0DJD8", "ENSEMBL:ENSP00000322192", "ENSEMBL:ENSP00000322192.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZ72-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-associated phosphatidylinositol transfer protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZ72-1", "PR:Q9BZ72-1", "ENSEMBL:ENSP00000322218", "ENSEMBL:ENSP00000322218.4"], "information_content": 100.0}
{"id": "NCBIGene:3992", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FADS1", "equivalent_identifiers": ["NCBIGene:3992", "ENSEMBL:ENSG00000149485", "HGNC:3574", "OMIM:606148", "UMLS:C1414521", "UniProtKB:A0A0A0MR51", "ENSEMBL:ENSP00000322229", "ENSEMBL:ENSP00000322229.9", "UniProtKB:O60427", "PR:O60427"]}
{"id": "NCBIGene:55017", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C14orf119", "equivalent_identifiers": ["NCBIGene:55017", "ENSEMBL:ENSG00000179933", "HGNC:20270", "UMLS:C1426824", "UniProtKB:Q9NWQ9", "PR:Q9NWQ9", "ENSEMBL:ENSP00000322238", "ENSEMBL:ENSP00000322238.4", "ENSEMBL:ENSP00000450861", "ENSEMBL:ENSP00000450861.1"], "information_content": 95.4}
{"id": "NCBIGene:93129", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ORAI3", "equivalent_identifiers": ["NCBIGene:93129", "ENSEMBL:ENSG00000175938", "HGNC:28185", "OMIM:610930", "UMLS:C1823407", "UniProtKB:Q9BRQ5", "PR:Q9BRQ5", "ENSEMBL:ENSP00000322249", "ENSEMBL:ENSP00000322249.4"], "information_content": 90.9}
{"id": "MONDO:0007538", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta, type 3A", "equivalent_identifiers": ["MONDO:0007538", "DOID:0110055", "DOID:0111721", "OMIM:130900", "UMLS:C5886770", "MESH:C562880", "SNOMEDCT:109471001", "medgen:1854533"], "information_content": 100.0}
{"id": "UniProtKB:Q59H18-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase TNNI3K isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q59H18-2", "PR:Q59H18-2", "ENSEMBL:ENSP00000322251", "ENSEMBL:ENSP00000322251.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZNG0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 620 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZNG0-1", "PR:Q6ZNG0-1", "ENSEMBL:ENSP00000322265", "ENSEMBL:ENSP00000322265.6"], "information_content": 100.0}
{"id": "MONDO:0100135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dravet syndrome", "equivalent_identifiers": ["MONDO:0100135", "DOID:0080422", "UMLS:C0751122", "MEDDRA:10073677", "MEDDRA:10073682", "NCIT:C116573", "NCIT:C147071", "SNOMEDCT:230437002", "medgen:148243", "icd11.foundation:1255654700"], "information_content": 95.4}
{"id": "UniProtKB:Q9NRN5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "olfactomedin-like protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRN5-1", "PR:Q9NRN5-1", "ENSEMBL:ENSP00000322273", "ENSEMBL:ENSP00000322273.4"], "information_content": 100.0}
{"id": "UniProtKB:O95498-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pantetheine hydrolase VNN2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95498-1", "PR:O95498-1", "ENSEMBL:ENSP00000322276", "ENSEMBL:ENSP00000322276.6"], "information_content": 100.0}
{"id": "NCBIGene:160335", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMTC2", "equivalent_identifiers": ["NCBIGene:160335", "ENSEMBL:ENSG00000179104", "HGNC:25440", "OMIM:615856", "UMLS:C1823452", "UniProtKB:B7Z639", "UMLS:C3884358", "MESH:C000592187", "UniProtKB:F8VSH2", "ENSEMBL:ENSP00000448292", "ENSEMBL:ENSP00000448292.1", "UniProtKB:Q8N394", "PR:Q8N394", "ENSEMBL:ENSP00000322300", "ENSEMBL:ENSP00000322300.3"], "information_content": 95.4}
{"id": "MONDO:0006837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "low tension glaucoma", "equivalent_identifiers": ["MONDO:0006837", "DOID:13544", "EFO:1001022", "UMLS:C0152136", "MESH:D057066", "MEDDRA:10024931", "MEDDRA:10067013", "SNOMEDCT:50485007", "medgen:56263", "ICD10:H40.12", "ICD9:365.12"], "information_content": 95.4}
{"id": "UniProtKB:Q9H237-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-serine O-palmitoleoyltransferase porcupine isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H237-1", "PR:Q9H237-1", "ENSEMBL:ENSP00000322304", "ENSEMBL:ENSP00000322304.6"], "information_content": 100.0}
{"id": "MONDO:0001915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orbital cyst", "equivalent_identifiers": ["MONDO:0001915", "DOID:14233", "UMLS:C0155285", "MEDDRA:10031037", "MEDDRA:10031038", "SNOMEDCT:31021007", "medgen:56359", "icd11.foundation:1244231313", "ICD10:H05.81", "ICD9:376.81", "HP:0001144"], "information_content": 95.4}
{"id": "UniProtKB:Q99807-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquinone biosynthesis protein COQ7 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99807-1", "PR:Q99807-1", "ENSEMBL:ENSP00000322316", "ENSEMBL:ENSP00000322316.5", "ENSEMBL:ENSP00000456734", "ENSEMBL:ENSP00000456734.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "extracellular serine/threonine protein kinase FAM20C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXL6-1", "PR:Q8IXL6-1", "ENSEMBL:ENSP00000322323", "ENSEMBL:ENSP00000322323.5", "ENSEMBL:ENSP00000499851", "ENSEMBL:ENSP00000499851.1"], "information_content": 100.0}
{"id": "NCBIGene:57191", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VN1R1", "equivalent_identifiers": ["NCBIGene:57191", "ENSEMBL:ENSG00000178201", "HGNC:13548", "OMIM:605234", "UMLS:C1422056", "UniProtKB:Q9GZP7", "PR:Q9GZP7", "ENSEMBL:ENSP00000322339", "ENSEMBL:ENSP00000322339.3", "UMLS:C1439239", "MESH:C414724"], "information_content": 95.4}
{"id": "UniProtKB:Q8IZL9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 20 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZL9-1", "PR:Q8IZL9-1", "ENSEMBL:ENSP00000322343", "ENSEMBL:ENSP00000322343.8"], "information_content": 100.0}
{"id": "MONDO:0012980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endocrine-cerebro-osteodysplasia syndrome", "equivalent_identifiers": ["MONDO:0012980", "DOID:0060641", "OMIM:612651", "orphanet:199332", "UMLS:C2675227", "UMLS:C4509819", "MESH:C567210", "SNOMEDCT:723309006", "medgen:390740", "icd11.foundation:413985102"], "information_content": 100.0}
{"id": "NCBIGene:7776", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF236", "equivalent_identifiers": ["NCBIGene:7776", "ENSEMBL:ENSG00000130856", "HGNC:13028", "OMIM:604760", "UMLS:C1421723", "UniProtKB:J9JID5", "ENSEMBL:ENSP00000322361", "ENSEMBL:ENSP00000322361.9", "UMLS:C1309216", "MESH:C121390", "UniProtKB:Q9UL36", "PR:Q9UL36"]}
{"id": "NCBIGene:23212", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RRS1", "equivalent_identifiers": ["NCBIGene:23212", "ENSEMBL:ENSG00000179041", "HGNC:17083", "OMIM:618311", "UMLS:C1424730", "UniProtKB:Q15050", "PR:Q15050", "ENSEMBL:ENSP00000322396", "ENSEMBL:ENSP00000322396.2", "UMLS:C1434548", "MESH:C405526"], "information_content": 95.4}
{"id": "MONDO:0026722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mullegama-Klein-Martinez syndrome", "equivalent_identifiers": ["MONDO:0026722", "DOID:0111845", "OMIM:301022", "UMLS:C5193008", "medgen:1683985"], "information_content": 100.0}
{"id": "UniProtKB:Q9BY66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase 5D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY66-1", "PR:Q9BY66-1", "ENSEMBL:ENSP00000322408", "ENSEMBL:ENSP00000322408.4"], "information_content": 100.0}
{"id": "NCBIGene:7284", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUFM", "equivalent_identifiers": ["NCBIGene:7284", "ENSEMBL:ENSG00000178952", "HGNC:12420", "OMIM:602389", "UMLS:C1421238", "UniProtKB:A0A384ME17", "UMLS:C1447334", "MESH:C091648", "UniProtKB:P49411", "PR:P49411", "ENSEMBL:ENSP00000322439", "ENSEMBL:ENSP00000322439.3"], "information_content": 86.3}
{"id": "NCBIGene:6478", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIAH2", "equivalent_identifiers": ["NCBIGene:6478", "ENSEMBL:ENSG00000181788", "HGNC:10858", "OMIM:602213", "UMLS:C1420046", "UniProtKB:O43255", "PR:O43255", "ENSEMBL:ENSP00000322457", "ENSEMBL:ENSP00000322457.3", "UMLS:C1436357", "MESH:C000729867"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWT1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium channel regulatory subunit beta-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWT1-1", "PR:Q8IWT1-1", "ENSEMBL:ENSP00000322460", "ENSEMBL:ENSP00000322460.4"], "information_content": 100.0}
{"id": "NCBIGene:79077", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCTPP1", "equivalent_identifiers": ["NCBIGene:79077", "ENSEMBL:ENSG00000179958", "HGNC:28777", "OMIM:615840", "UMLS:C2681404", "UniProtKB:Q9H773", "PR:Q9H773", "ENSEMBL:ENSP00000322524", "ENSEMBL:ENSP00000322524.4"], "information_content": 92.8}
{"id": "UniProtKB:Q8N2H9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase pellino homolog 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2H9-1", "PR:Q8N2H9-1", "ENSEMBL:ENSP00000322532", "ENSEMBL:ENSP00000322532.7"], "information_content": 100.0}
{"id": "NCBIGene:125919", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF543", "equivalent_identifiers": ["NCBIGene:125919", "ENSEMBL:ENSG00000178229", "HGNC:25281", "OMIM:616847", "UMLS:C1428468", "UniProtKB:Q08ER8", "PR:Q08ER8", "ENSEMBL:ENSP00000322545", "ENSEMBL:ENSP00000322545.3", "UMLS:C4077700", "MESH:C000602810"], "information_content": 95.4}
{"id": "NCBIGene:6664", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOX11", "equivalent_identifiers": ["NCBIGene:6664", "ENSEMBL:ENSG00000176887", "HGNC:11191", "OMIM:600898", "UMLS:C1420318", "UniProtKB:P35716", "PR:P35716", "ENSEMBL:ENSP00000322568", "ENSEMBL:ENSP00000322568.3", "UMLS:C1447404", "MESH:C097473"], "information_content": 92.8}
{"id": "NCBIGene:5426", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLE", "equivalent_identifiers": ["NCBIGene:5426", "ENSEMBL:ENSG00000177084", "HGNC:9177", "OMIM:174762", "UMLS:C1418729", "UniProtKB:Q07864", "PR:Q07864", "ENSEMBL:ENSP00000322570", "ENSEMBL:ENSP00000322570.5", "UMLS:C1431890", "UMLS:C3811771", "MESH:C119525"], "information_content": 84.2}
{"id": "UniProtKB:Q9BUL5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PHD finger protein 23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUL5-1", "PR:Q9BUL5-1", "ENSEMBL:ENSP00000322579", "ENSEMBL:ENSP00000322579.3"], "information_content": 100.0}
{"id": "NCBIGene:54734", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB39A", "equivalent_identifiers": ["NCBIGene:54734", "ENSEMBL:ENSG00000179331", "HGNC:16521", "OMIM:619558", "UMLS:C1424350", "UniProtKB:Q14964", "PR:Q14964", "ENSEMBL:ENSP00000322594", "ENSEMBL:ENSP00000322594.2", "UMLS:C1258411", "MESH:C474116"], "information_content": 92.8}
{"id": "UniProtKB:Q5RHP9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate-rich protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5RHP9-1", "PR:Q5RHP9-1", "ENSEMBL:ENSP00000322609", "ENSEMBL:ENSP00000322609.5"], "information_content": 100.0}
{"id": "NCBIGene:170572", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTR3C", "equivalent_identifiers": ["NCBIGene:170572", "ENSEMBL:ENSG00000178084", "HGNC:24003", "OMIM:610121", "UMLS:C1537390", "UniProtKB:Q8WXA8", "PR:Q8WXA8", "ENSEMBL:ENSP00000322617", "ENSEMBL:ENSP00000322617.1", "UMLS:C2745599", "MESH:C543516"], "information_content": 95.4}
{"id": "MONDO:0000701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ischemic colitis", "equivalent_identifiers": ["MONDO:0000701", "DOID:0060181", "UMLS:C0162529", "MESH:D017091", "MEDDRA:10009895", "MEDDRA:10009896", "MEDDRA:10023037", "MEDDRA:10055744", "SNOMEDCT:30588004", "medgen:57930", "ICD10:K55.9"], "information_content": 100.0}
{"id": "NCBIGene:286234", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA31E1", "equivalent_identifiers": ["NCBIGene:286234", "ENSEMBL:ENSG00000177992", "HGNC:26672", "UMLS:C3470171", "UniProtKB:Q6ZUB1", "PR:Q6ZUB1", "ENSEMBL:ENSP00000322640", "ENSEMBL:ENSP00000322640.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5S1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial carrier protein SCaMC-3L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5S1-1", "PR:Q8N5S1-1", "ENSEMBL:ENSP00000322649", "ENSEMBL:ENSP00000322649.5", "ENSEMBL:ENSP00000471238", "ENSEMBL:ENSP00000471238.1"], "information_content": 100.0}
{"id": "MONDO:0011771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, autosomal recessive 3", "equivalent_identifiers": ["MONDO:0011771", "DOID:0111211", "OMIM:607088", "orphanet:139547", "UMLS:C1846823", "MESH:C564626", "SNOMEDCT:770430000", "medgen:337659"], "information_content": 100.0}
{"id": "MONDO:0000459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesenchymal glioblastoma", "equivalent_identifiers": ["MONDO:0000459", "DOID:0050805", "UMLS:C3829122", "NCIT:C111695", "medgen:821870"], "information_content": 92.8}
{"id": "NCBIGene:3157", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMGCS1", "equivalent_identifiers": ["NCBIGene:3157", "ENSEMBL:ENSG00000112972", "HGNC:5007", "OMIM:142940", "UMLS:C1415616", "UniProtKB:Q01581", "PR:Q01581", "ENSEMBL:ENSP00000322706", "ENSEMBL:ENSP00000322706.6", "ENSEMBL:ENSP00000399402", "ENSEMBL:ENSP00000399402.2", "UMLS:C4507959", "MESH:C000621002"], "information_content": 82.6}
{"id": "UniProtKB:Q49A26-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytokine-like nuclear factor N-PAC isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q49A26-1", "PR:Q49A26-1", "ENSEMBL:ENSP00000322716", "ENSEMBL:ENSP00000322716.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integral membrane protein 2C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQX7-1", "PR:Q9NQX7-1", "ENSEMBL:ENSP00000322730", "ENSEMBL:ENSP00000322730.6"], "information_content": 100.0}
{"id": "NCBIGene:119692", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR51S1", "equivalent_identifiers": ["NCBIGene:119692", "ENSEMBL:ENSG00000176922", "HGNC:15204", "UMLS:C1423295", "UniProtKB:A0A126GWN3", "UniProtKB:Q8NGJ8", "PR:Q8NGJ8", "ENSEMBL:ENSP00000322754", "ENSEMBL:ENSP00000322754.2"], "information_content": 100.0}
{"id": "MONDO:0012213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 26", "equivalent_identifiers": ["MONDO:0012213", "DOID:0110777", "OMIM:609195", "orphanet:101006", "UMLS:C1836632", "MESH:C536862", "SNOMEDCT:726607007", "medgen:373138"], "information_content": 100.0}
{"id": "UniProtKB:Q6PJF5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive rhomboid protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PJF5-1", "PR:Q6PJF5-1", "ENSEMBL:ENSP00000322775", "ENSEMBL:ENSP00000322775.3"], "information_content": 100.0}
{"id": "NCBIGene:390181", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5AK2", "equivalent_identifiers": ["NCBIGene:390181", "ENSEMBL:ENSG00000181273", "HGNC:15251", "UMLS:C1423340", "UniProtKB:A0A126GW20", "UniProtKB:Q8NH90", "PR:Q8NH90", "ENSEMBL:ENSP00000322784", "ENSEMBL:ENSP00000322784.2"], "information_content": 100.0}
{"id": "MONDO:0004699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gastrointestinal lymphoma", "equivalent_identifiers": ["MONDO:0004699", "DOID:903", "UMLS:C0740372", "MEDDRA:10017973", "NCIT:C38162", "SNOMEDCT:449072004", "medgen:148147"], "information_content": 70.6}
{"id": "NCBIGene:4312", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP1", "equivalent_identifiers": ["NCBIGene:4312", "ENSEMBL:ENSG00000196611", "HGNC:7155", "OMIM:120353", "UMLS:C1417199", "UniProtKB:B4DN15", "UniProtKB:P03956", "PR:P03956", "ENSEMBL:ENSP00000322788", "ENSEMBL:ENSP00000322788.6", "UMLS:C2001899", "MESH:C522360", "UniProtKB:Q53G95"], "information_content": 78.5}
{"id": "NCBIGene:390077", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52N2", "equivalent_identifiers": ["NCBIGene:390077", "ENSEMBL:ENSG00000180988", "HGNC:15228", "UMLS:C1423319", "UniProtKB:Q8NGI0", "PR:Q8NGI0", "ENSEMBL:ENSP00000322801", "ENSEMBL:ENSP00000322801.2"], "information_content": 100.0}
{"id": "MONDO:0006238", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth hormone-producing pituitary gland adenoma", "equivalent_identifiers": ["MONDO:0006238", "DOID:6255", "orphanet:96256", "EFO:1000287", "UMLS:C0278864", "UMLS:C0346302", "MESH:D049912", "MEDDRA:10018758", "MEDDRA:10062451", "NCIT:C7461", "SNOMEDCT:1156906001", "SNOMEDCT:254957009", "medgen:82999"], "information_content": 87.2}
{"id": "NCBIGene:85453", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPYL5", "equivalent_identifiers": ["NCBIGene:85453", "ENSEMBL:ENSG00000180543", "HGNC:29367", "OMIM:614721", "UMLS:C1428843", "UniProtKB:Q86VY4", "PR:Q86VY4", "ENSEMBL:ENSP00000322802", "ENSEMBL:ENSP00000322802.3", "UMLS:C2352698", "UMLS:C4761437", "MESH:C527859"], "information_content": 100.0}
{"id": "UniProtKB:O43312-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein MTSS 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O43312-5", "PR:O43312-5", "ENSEMBL:ENSP00000322804", "ENSEMBL:ENSP00000322804.5"], "information_content": 100.0}
{"id": "NCBIGene:79641", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ROGDI", "equivalent_identifiers": ["NCBIGene:79641", "ENSEMBL:ENSG00000067836", "HGNC:29478", "OMIM:614574", "UMLS:C1826844", "UniProtKB:Q9GZN7", "PR:Q9GZN7", "ENSEMBL:ENSP00000322832", "ENSEMBL:ENSP00000322832.6", "UMLS:C3492471", "MESH:C572461"], "information_content": 95.4}
{"id": "MONDO:0011335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia with multiple dislocations", "equivalent_identifiers": ["MONDO:0011335", "DOID:0112199", "OMIM:603546", "orphanet:93360", "UMLS:C1863732", "MESH:C535784", "NCIT:C125419", "SNOMEDCT:766820007", "medgen:350960"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 40 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWA1-1", "PR:Q8WWA1-1", "ENSEMBL:ENSP00000264728", "ENSEMBL:ENSP00000264728.8", "ENSEMBL:ENSP00000322837", "ENSEMBL:ENSP00000322837.7"], "information_content": 100.0}
{"id": "MONDO:0004641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin carcinoma in situ", "equivalent_identifiers": ["MONDO:0004641", "DOID:8687", "UMLS:C0154073", "UMLS:C0154074", "UMLS:C0154077", "UMLS:C0154078", "UMLS:C0154079", "UMLS:C0154080", "UMLS:C0154081", "UMLS:C0347139", "MEDDRA:10007390", "MEDDRA:10007391", "MEDDRA:10007393", "MEDDRA:10007394", "MEDDRA:10007396", "MEDDRA:10007397", "MEDDRA:10007398", "MEDDRA:10056763", "MEDDRA:10056764", "MEDDRA:10056787", "NCIT:C194918", "NCIT:C3640", "SNOMEDCT:189291009", "SNOMEDCT:255144005", "SNOMEDCT:92734000", "SNOMEDCT:92735004", "SNOMEDCT:92747005", "SNOMEDCT:92749008", "medgen:102308", "ICD10:D04", "ICD10:D04.0", "ICD10:D04.2", "ICD10:D04.3", "ICD10:D04.4", "ICD10:D04.6", "ICD10:D04.7", "ICD9:232", "ICD9:232.0", "ICD9:232.2", "ICD9:232.3", "ICD9:232.4", "ICD9:232.5", "ICD9:232.6", "ICD9:232.7"], "information_content": 87.2}
{"id": "UniProtKB:Q14202-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger MYM-type protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14202-1", "PR:Q14202-1", "ENSEMBL:ENSP00000322845", "ENSEMBL:ENSP00000322845.5"], "information_content": 100.0}
{"id": "UniProtKB:Q86UW9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable E3 ubiquitin-protein ligase DTX2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UW9-1", "PR:Q86UW9-1", "ENSEMBL:ENSP00000322885", "ENSEMBL:ENSP00000322885.5", "ENSEMBL:ENSP00000390218", "ENSEMBL:ENSP00000390218.2", "ENSEMBL:ENSP00000411986", "ENSEMBL:ENSP00000411986.2"], "information_content": 100.0}
{"id": "MONDO:0004714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrophic muscular disease", "equivalent_identifiers": ["MONDO:0004714", "DOID:913", "UMLS:C0752352", "MESH:D020966", "NCIT:C84574", "medgen:156267"], "information_content": 100.0}
{"id": "UniProtKB:Q9UH73-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor COE1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UH73-1", "PR:Q9UH73-1", "ENSEMBL:ENSP00000322898", "ENSEMBL:ENSP00000322898.6"], "information_content": 100.0}
{"id": "UniProtKB:Q5VZL5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger MYM-type protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VZL5-1", "PR:Q5VZL5-1", "ENSEMBL:ENSP00000322915", "ENSEMBL:ENSP00000322915.6"], "information_content": 100.0}
{"id": "NCBIGene:3355", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTR1F", "equivalent_identifiers": ["NCBIGene:3355", "ENSEMBL:ENSG00000179097", "HGNC:5292", "OMIM:182134", "UMLS:C1415808", "UniProtKB:P30939", "PR:P30939", "ENSEMBL:ENSP00000322924", "ENSEMBL:ENSP00000322924.4", "UMLS:C5226587", "MESH:C000654224"], "information_content": 95.4}
{"id": "UniProtKB:Q6UWE0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase LRSAM1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWE0-1", "PR:Q6UWE0-1", "ENSEMBL:ENSP00000300417", "ENSEMBL:ENSP00000300417.6", "ENSEMBL:ENSP00000322937", "ENSEMBL:ENSP00000322937.4", "ENSEMBL:ENSP00000362419", "ENSEMBL:ENSP00000362419.1", "ENSEMBL:ENSP00000502167", "ENSEMBL:ENSP00000502167.1"], "information_content": 100.0}
{"id": "NCBIGene:387748", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR56B1", "equivalent_identifiers": ["NCBIGene:387748", "ENSEMBL:ENSG00000181023", "HGNC:15245", "UMLS:C1423334", "UniProtKB:Q8NGI3", "PR:Q8NGI3", "ENSEMBL:ENSP00000322939", "ENSEMBL:ENSP00000322939.3"], "information_content": 100.0}
{"id": "UniProtKB:P55082-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microfibril-associated glycoprotein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P55082-1", "PR:P55082-1", "ENSEMBL:ENSP00000322956", "ENSEMBL:ENSP00000322956.5", "ENSEMBL:ENSP00000430852", "ENSEMBL:ENSP00000430852.2"], "information_content": 100.0}
{"id": "MONDO:0006839", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lutembacher syndrome", "equivalent_identifiers": ["MONDO:0006839", "DOID:1998", "EFO:1001024", "UMLS:C0024164", "MESH:D008185", "SNOMEDCT:204319006", "medgen:9825"], "information_content": 100.0}
{"id": "UniProtKB:O15382-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "branched-chain-amino-acid aminotransferase, mitochondrial isoform A (human)", "equivalent_identifiers": ["UniProtKB:O15382-1", "PR:O15382-1", "ENSEMBL:ENSP00000322991", "ENSEMBL:ENSP00000322991.5"], "information_content": 100.0}
{"id": "UniProtKB:P15309-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostatic acid phosphatase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P15309-2", "PR:P15309-2", "ENSEMBL:ENSP00000323036", "ENSEMBL:ENSP00000323036.8"], "information_content": 100.0}
{"id": "MONDO:0014190", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation defect type 17", "equivalent_identifiers": ["MONDO:0014190", "DOID:0111496", "OMIM:615440", "orphanet:369913", "UMLS:C3809526", "SNOMEDCT:775908005", "medgen:815856"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQT5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exosome complex component RRP40 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQT5-1", "PR:Q9NQT5-1", "ENSEMBL:ENSP00000323046", "ENSEMBL:ENSP00000323046.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BT17-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial ribosome-associated GTPase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BT17-1", "PR:Q9BT17-1", "ENSEMBL:ENSP00000323047", "ENSEMBL:ENSP00000323047.6"], "information_content": 100.0}
{"id": "NCBIGene:90480", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GADD45GIP1", "equivalent_identifiers": ["NCBIGene:90480", "ENSEMBL:ENSG00000179271", "HGNC:29996", "OMIM:605162", "UMLS:C1428913", "UniProtKB:Q8TAE8", "PR:Q8TAE8", "ENSEMBL:ENSP00000323065", "ENSEMBL:ENSP00000323065.1", "UMLS:C1311023", "MESH:C476586"], "information_content": 95.4}
{"id": "UniProtKB:Q9H0V1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 168 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0V1-1", "PR:Q9H0V1-1", "ENSEMBL:ENSP00000323068", "ENSEMBL:ENSP00000323068.4", "ENSEMBL:ENSP00000390696", "ENSEMBL:ENSP00000390696.1"], "information_content": 100.0}
{"id": "NCBIGene:122970", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACOT4", "equivalent_identifiers": ["NCBIGene:122970", "ENSEMBL:ENSG00000177465", "HGNC:19748", "OMIM:614314", "UMLS:C1825829", "UniProtKB:Q8N9L9", "PR:Q8N9L9", "ENSEMBL:ENSP00000323071", "ENSEMBL:ENSP00000323071.4", "UMLS:C1685370", "MESH:C506774"], "information_content": 90.9}
{"id": "UniProtKB:Q7Z5J4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinoic acid-induced protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5J4-1", "PR:Q7Z5J4-1", "ENSEMBL:ENSP00000323074", "ENSEMBL:ENSP00000323074.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BU61-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform a (human)", "equivalent_identifiers": ["UniProtKB:Q9BU61-1", "PR:Q9BU61-1", "ENSEMBL:ENSP00000323076", "ENSEMBL:ENSP00000323076.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXE1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATR-interacting protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXE1-1", "PR:Q8WXE1-1", "ENSEMBL:ENSP00000323099", "ENSEMBL:ENSP00000323099.3"], "information_content": 100.0}
{"id": "NCBIGene:7586", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZKSCAN1", "equivalent_identifiers": ["NCBIGene:7586", "ENSEMBL:ENSG00000106261", "HGNC:13101", "OMIM:601260", "UMLS:C1538174", "UniProtKB:B3KNP9", "UMLS:C3849658", "MESH:C000590232", "UniProtKB:B3KRF7", "ENSEMBL:ENSP00000443508", "ENSEMBL:ENSP00000443508.1", "UniProtKB:E9PC66", "ENSEMBL:ENSP00000409172", "ENSEMBL:ENSP00000409172.1", "ENSEMBL:ENSP00000480305", "ENSEMBL:ENSP00000480305.1", "UniProtKB:P17029", "PR:P17029", "ENSEMBL:ENSP00000323148", "ENSEMBL:ENSP00000323148.6"], "information_content": 95.4}
{"id": "NCBIGene:199699", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DAND5", "equivalent_identifiers": ["NCBIGene:199699", "ENSEMBL:ENSG00000179284", "HGNC:26780", "OMIM:609068", "UMLS:C1539218", "UniProtKB:Q8N907", "PR:Q8N907", "ENSEMBL:ENSP00000323155", "ENSEMBL:ENSP00000323155.1", "UMLS:C1531053", "MESH:C495108"], "information_content": 95.4}
{"id": "NCBIGene:57621", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB2", "equivalent_identifiers": ["NCBIGene:57621", "ENSEMBL:ENSG00000181472", "HGNC:20868", "OMIM:616595", "UMLS:C1427175", "UniProtKB:Q8N680", "PR:Q8N680", "ENSEMBL:ENSP00000323183", "ENSEMBL:ENSP00000323183.4", "UMLS:C2743861", "UMLS:C5444937", "MESH:C544396"], "information_content": 95.4}
{"id": "NCBIGene:55511", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAGE1", "equivalent_identifiers": ["NCBIGene:55511", "ENSEMBL:ENSG00000181433", "HGNC:30369", "OMIM:300359", "UMLS:C1539721", "UniProtKB:Q9NXZ1", "PR:Q9NXZ1", "ENSEMBL:ENSP00000323191", "ENSEMBL:ENSP00000323191.3", "ENSEMBL:ENSP00000359743", "ENSEMBL:ENSP00000359743.3", "UMLS:C1439122", "MESH:C412325"], "information_content": 100.0}
{"id": "UniProtKB:I6L899-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "golgin subfamily A member 8R isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:I6L899-1", "PR:I6L899-1", "ENSEMBL:ENSP00000323217", "ENSEMBL:ENSP00000323217.10"], "information_content": 100.0}
{"id": "MONDO:0007435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentatorubral-pallidoluysian atrophy", "equivalent_identifiers": ["MONDO:0007435", "DOID:0060162", "OMIM:125370", "orphanet:101", "UMLS:C0751781", "UMLS:C2931846", "MESH:C538427", "MEDDRA:10075298", "NCIT:C122653", "SNOMEDCT:68116008", "medgen:155630"], "information_content": 100.0}
{"id": "UniProtKB:Q96AV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor E2F7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AV8-1", "PR:Q96AV8-1", "ENSEMBL:ENSP00000323246", "ENSEMBL:ENSP00000323246.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4S9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MARVEL domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4S9-1", "PR:Q8N4S9-1", "ENSEMBL:ENSP00000323264", "ENSEMBL:ENSP00000323264.5", "ENSEMBL:ENSP00000494616", "ENSEMBL:ENSP00000494616.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXU2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal assembly factor 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXU2-1", "PR:Q8WXU2-1", "ENSEMBL:ENSP00000299561", "ENSEMBL:ENSP00000299561.5", "ENSEMBL:ENSP00000323275", "ENSEMBL:ENSP00000323275.3"], "information_content": 100.0}
{"id": "UniProtKB:P30203-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell differentiation antigen CD6 isoform hCD6A (human)", "equivalent_identifiers": ["UniProtKB:P30203-1", "PR:P30203-1", "ENSEMBL:ENSP00000323280", "ENSEMBL:ENSP00000323280.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZ73-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pseudouridylate synthase RPUSD2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZ73-1", "PR:Q8IZ73-1", "ENSEMBL:ENSP00000323288", "ENSEMBL:ENSP00000323288.7"], "information_content": 100.0}
{"id": "MONDO:0006989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "suppurative periapical periodontitis", "equivalent_identifiers": ["MONDO:0006989", "DOID:2562", "EFO:1001202", "UMLS:C0031024", "UMLS:C1328248", "MESH:D010482", "MEDDRA:10034460", "MEDDRA:10049607", "NCIT:C34913", "SNOMEDCT:196341005", "medgen:10652"], "information_content": 95.4}
{"id": "NCBIGene:10615", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPAG5", "equivalent_identifiers": ["NCBIGene:10615", "ENSEMBL:ENSG00000076382", "HGNC:13452", "OMIM:615562", "UMLS:C1422002", "UniProtKB:Q96R06", "PR:Q96R06", "ENSEMBL:ENSP00000323300", "ENSEMBL:ENSP00000323300.5", "UMLS:C1310320", "MESH:C486663"], "information_content": 85.5}
{"id": "UniProtKB:Q8TC44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POC1 centriolar protein homolog B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TC44-1", "PR:Q8TC44-1", "ENSEMBL:ENSP00000323302", "ENSEMBL:ENSP00000323302.3"], "information_content": 100.0}
{"id": "MONDO:0009747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)", "equivalent_identifiers": ["MONDO:0009747", "DOID:0080125", "OMIM:256810", "orphanet:255229", "UMLS:C1850406", "UMLS:C1850407", "MESH:C538344", "SNOMEDCT:784346006", "medgen:338045"], "information_content": 100.0}
{"id": "UniProtKB:Q14554-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein disulfide-isomerase A5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14554-1", "PR:Q14554-1", "ENSEMBL:ENSP00000323313", "ENSEMBL:ENSP00000323313.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y286-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialic acid-binding Ig-like lectin 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y286-1", "PR:Q9Y286-1", "ENSEMBL:ENSP00000323328", "ENSEMBL:ENSP00000323328.6"], "information_content": 100.0}
{"id": "NCBIGene:158506", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CBLL2", "equivalent_identifiers": ["NCBIGene:158506", "ENSEMBL:ENSG00000175809", "HGNC:26371", "UMLS:C1538215", "UniProtKB:Q8N7E2", "PR:Q8N7E2", "ENSEMBL:ENSP00000323348", "ENSEMBL:ENSP00000323348.2", "UMLS:C2975347", "MESH:C552601"], "information_content": 100.0}
{"id": "NCBIGene:148109", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM187B", "equivalent_identifiers": ["NCBIGene:148109", "ENSEMBL:ENSG00000177558", "HGNC:26366", "UMLS:C1823427", "UniProtKB:Q17R55", "PR:Q17R55", "ENSEMBL:ENSP00000323355", "ENSEMBL:ENSP00000323355.3"], "information_content": 100.0}
{"id": "MONDO:0011951", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 6", "equivalent_identifiers": ["MONDO:0011951", "DOID:0060198", "OMIM:608030", "UMLS:C2750729", "UMLS:C2931786", "MESH:C538251", "MESH:C567699", "NCIT:C168750", "SNOMEDCT:1204334005", "medgen:419901"], "information_content": 100.0}
{"id": "NCBIGene:8243", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMC1A", "equivalent_identifiers": ["NCBIGene:8243", "ENSEMBL:ENSG00000072501", "HGNC:11111", "OMIM:300040", "UMLS:C1822777", "UniProtKB:A0A384MR33", "UniProtKB:G8JLG1", "ENSEMBL:ENSP00000364489", "ENSEMBL:ENSP00000364489.7", "ENSEMBL:ENSP00000502524", "ENSEMBL:ENSP00000502524.1", "UniProtKB:Q14683", "PR:Q14683", "ENSEMBL:ENSP00000323421", "ENSEMBL:ENSP00000323421.3", "UMLS:C2699700", "UniProtKB:Q68EN4"], "information_content": 88.2}
{"id": "NCBIGene:81875", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ISG20L2", "equivalent_identifiers": ["NCBIGene:81875", "ENSEMBL:ENSG00000143319", "HGNC:25745", "OMIM:611930", "UMLS:C1825623", "UniProtKB:Q9H9L3", "PR:Q9H9L3", "ENSEMBL:ENSP00000323424", "ENSEMBL:ENSP00000323424.6", "ENSEMBL:ENSP00000357202", "ENSEMBL:ENSP00000357202.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96L94-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96L94-1", "PR:Q96L94-1", "ENSEMBL:ENSP00000323435", "ENSEMBL:ENSP00000323435.4"], "information_content": 100.0}
{"id": "MONDO:0022965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "desmoplastic infantile ganglioglioma", "equivalent_identifiers": ["MONDO:0022965", "DOID:0081259", "UMLS:C1321878", "MEDDRA:10089026", "NCIT:C4738", "medgen:231168"], "information_content": 100.0}
{"id": "MONDO:0019257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemochromatosis type 2", "equivalent_identifiers": ["MONDO:0019257", "DOID:0111034", "orphanet:79230", "UMLS:C0268060", "MESH:C537247", "SNOMEDCT:50855007", "medgen:82769"], "information_content": 92.8}
{"id": "UniProtKB:Q96T60-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional polynucleotide phosphatase/kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96T60-1", "PR:Q96T60-1", "ENSEMBL:ENSP00000323511", "ENSEMBL:ENSP00000323511.2", "ENSEMBL:ENSP00000472300", "ENSEMBL:ENSP00000472300.1"], "information_content": 100.0}
{"id": "NCBIGene:2837", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UTS2R", "equivalent_identifiers": ["NCBIGene:2837", "ENSEMBL:ENSG00000181408", "HGNC:4468", "OMIM:600896", "UMLS:C1540171", "UniProtKB:Q9UKP6", "PR:Q9UKP6", "ENSEMBL:ENSP00000323516", "ENSEMBL:ENSP00000323516.2", "UMLS:C0909402", "MESH:C121697"], "information_content": 100.0}
{"id": "UniProtKB:Q9UL63-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "muskelin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UL63-1", "PR:Q9UL63-1", "ENSEMBL:ENSP00000323527", "ENSEMBL:ENSP00000323527.6"], "information_content": 100.0}
{"id": "NCBIGene:348932", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC6A18", "equivalent_identifiers": ["NCBIGene:348932", "ENSEMBL:ENSG00000164363", "HGNC:26441", "OMIM:610300", "UMLS:C1428591", "UniProtKB:Q96N87", "PR:Q96N87", "ENSEMBL:ENSP00000323549", "ENSEMBL:ENSP00000323549.3"], "information_content": 90.9}
{"id": "UniProtKB:P11168-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 2, facilitated glucose transporter member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11168-1", "PR:P11168-1", "ENSEMBL:ENSP00000323568", "ENSEMBL:ENSP00000323568.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13099-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 88 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13099-1", "PR:Q13099-1", "ENSEMBL:ENSP00000323580", "ENSEMBL:ENSP00000323580.6"], "information_content": 100.0}
{"id": "NCBIGene:55600", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITLN1", "equivalent_identifiers": ["NCBIGene:55600", "ENSEMBL:ENSG00000179914", "HGNC:18259", "OMIM:609873", "UMLS:C1425400", "UniProtKB:Q8WWA0", "PR:Q8WWA0", "ENSEMBL:ENSP00000323587", "ENSEMBL:ENSP00000323587.3", "UMLS:C0968453", "MESH:C432397"], "information_content": 100.0}
{"id": "NCBIGene:6657", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOX2", "equivalent_identifiers": ["NCBIGene:6657", "ENSEMBL:ENSG00000181449", "HGNC:11195", "OMIM:184429", "UMLS:C1420322", "UniProtKB:A0A0U3FYV6", "UniProtKB:P48431", "PR:P48431", "ENSEMBL:ENSP00000323588", "ENSEMBL:ENSP00000323588.1", "UMLS:C1568630", "MESH:C527782"], "information_content": 100.0}
{"id": "NCBIGene:125228", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM210A", "equivalent_identifiers": ["NCBIGene:125228", "ENSEMBL:ENSG00000177150", "HGNC:28346", "OMIM:617975", "UMLS:C3470286", "UniProtKB:Q96ND0", "PR:Q96ND0", "ENSEMBL:ENSP00000323635", "ENSEMBL:ENSP00000323635.3", "ENSEMBL:ENSP00000386115", "ENSEMBL:ENSP00000386115.1", "ENSEMBL:ENSP00000498370", "ENSEMBL:ENSP00000498370.1", "UMLS:C4742337", "MESH:C000628109"], "information_content": 95.4}
{"id": "UniProtKB:Q8N584-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetratricopeptide repeat protein 39C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N584-1", "PR:Q8N584-1", "ENSEMBL:ENSP00000323645", "ENSEMBL:ENSP00000323645.3"], "information_content": 100.0}
{"id": "NCBIGene:51341", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB7A", "equivalent_identifiers": ["NCBIGene:51341", "ENSEMBL:ENSG00000178951", "HGNC:18078", "OMIM:605878", "UMLS:C1538143", "UniProtKB:O95365", "PR:O95365", "ENSEMBL:ENSP00000323670", "ENSEMBL:ENSP00000323670.3", "ENSEMBL:ENSP00000471865", "ENSEMBL:ENSP00000471865.1", "UMLS:C1313749", "MESH:C485514"], "information_content": 95.4}
{"id": "UniProtKB:Q8N4Q0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostaglandin reductase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4Q0-1", "PR:Q8N4Q0-1", "ENSEMBL:ENSP00000323678", "ENSEMBL:ENSP00000323678.3"], "information_content": 100.0}
{"id": "NCBIGene:63893", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2O", "equivalent_identifiers": ["NCBIGene:63893", "ENSEMBL:ENSG00000175931", "HGNC:29554", "OMIM:617649", "UMLS:C1823570", "UniProtKB:Q9C0C9", "PR:Q9C0C9", "ENSEMBL:ENSP00000323687", "ENSEMBL:ENSP00000323687.6", "UMLS:C3851786", "MESH:C000589772"], "information_content": 92.8}
{"id": "NCBIGene:10491", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRTAP", "equivalent_identifiers": ["NCBIGene:10491", "ENSEMBL:ENSG00000170275", "HGNC:2379", "OMIM:605497", "UMLS:C1413720", "UniProtKB:C9JP16", "ENSEMBL:ENSP00000409997", "ENSEMBL:ENSP00000409997.1", "UniProtKB:O75718", "PR:O75718", "ENSEMBL:ENSP00000323696", "ENSEMBL:ENSP00000323696.5", "UMLS:C1435060", "MESH:C108053"], "information_content": 89.4}
{"id": "NCBIGene:9282", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MED14", "equivalent_identifiers": ["NCBIGene:9282", "ENSEMBL:ENSG00000180182", "HGNC:2370", "OMIM:300182", "UMLS:C1332781", "UniProtKB:O60244", "PR:O60244", "ENSEMBL:ENSP00000323720", "ENSEMBL:ENSP00000323720.1", "UMLS:C1313003", "MESH:C492160"], "information_content": 84.2}
{"id": "UniProtKB:P55916-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative mitochondrial transporter UCP3 isoform hUCP3L (human)", "equivalent_identifiers": ["UniProtKB:P55916-1", "PR:P55916-1", "ENSEMBL:ENSP00000323740", "ENSEMBL:ENSP00000323740.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJ83-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-hydroxyacyl-CoA lyase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJ83-1", "PR:Q9UJ83-1", "ENSEMBL:ENSP00000323811", "ENSEMBL:ENSP00000323811.5"], "information_content": 100.0}
{"id": "MONDO:0002558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melanotic neurilemmoma", "equivalent_identifiers": ["MONDO:0002558", "DOID:3205", "UMLS:C1306247", "NCIT:C6970", "SNOMEDCT:253088003", "SNOMEDCT:404024000", "medgen:266292"], "information_content": 89.4}
{"id": "NCBIGene:57491", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AHRR", "equivalent_identifiers": ["NCBIGene:57491", "ENSEMBL:ENSG00000063438", "HGNC:346", "OMIM:606517", "UMLS:C1412294", "UniProtKB:A0A7I2PK40", "ENSEMBL:ENSP00000323816", "ENSEMBL:ENSP00000323816.6", "ENSEMBL:ENSP00000507476", "ENSEMBL:ENSP00000507476.1", "UniProtKB:A9YTQ3", "PR:A9YTQ3", "UMLS:C1452831", "UMLS:C5444319", "MESH:C492162"]}
{"id": "NCBIGene:219453", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR8K5", "equivalent_identifiers": ["NCBIGene:219453", "ENSEMBL:ENSG00000181752", "HGNC:15315", "UMLS:C1423399", "UniProtKB:Q8NH50", "PR:Q8NH50", "ENSEMBL:ENSP00000323853", "ENSEMBL:ENSP00000323853.1"], "information_content": 100.0}
{"id": "MONDO:0024432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plexopathy", "equivalent_identifiers": ["MONDO:0024432", "DOID:3688", "EFO:0009559", "UMLS:C0270891", "UMLS:C1335437", "NCIT:C27744", "SNOMEDCT:2231001", "medgen:543047"], "information_content": 79.9}
{"id": "UniProtKB:Q15149-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plectin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15149-1", "PR:Q15149-1", "ENSEMBL:ENSP00000323856", "ENSEMBL:ENSP00000323856.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDD1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent RNA helicase DDX54 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDD1-2", "PR:Q8TDD1-2", "ENSEMBL:ENSP00000323858", "ENSEMBL:ENSP00000323858.7"], "information_content": 100.0}
{"id": "UniProtKB:P54619-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5'-AMP-activated protein kinase subunit gamma-1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P54619-3", "PR:P54619-3", "ENSEMBL:ENSP00000323867", "ENSEMBL:ENSP00000323867.5"], "information_content": 100.0}
{"id": "NCBIGene:5032", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "P2RY11", "equivalent_identifiers": ["NCBIGene:5032", "ENSEMBL:ENSG00000244165", "HGNC:8540", "OMIM:602697", "UMLS:C1418218", "UniProtKB:Q96G91", "PR:Q96G91", "ENSEMBL:ENSP00000323872", "ENSEMBL:ENSP00000323872.4", "UMLS:C2745734", "MESH:C109734"], "information_content": 100.0}
{"id": "NCBIGene:2302", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXJ1", "equivalent_identifiers": ["NCBIGene:2302", "ENSEMBL:ENSG00000129654", "HGNC:3816", "OMIM:602291", "UMLS:C1414683", "UniProtKB:Q92949", "PR:Q92949", "ENSEMBL:ENSP00000323880", "ENSEMBL:ENSP00000323880.4", "UMLS:C0539777", "MESH:C106349"], "information_content": 95.4}
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{"id": "NCBIGene:2535", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FZD2", "equivalent_identifiers": ["NCBIGene:2535", "ENSEMBL:ENSG00000180340", "HGNC:4040", "OMIM:600667", "UMLS:C1333584", "UniProtKB:Q14332", "PR:Q14332", "ENSEMBL:ENSP00000323901", "ENSEMBL:ENSP00000323901.3", "UMLS:C1333637", "MESH:C489742", "UniProtKB:Q86UZ8"], "information_content": 90.9}
{"id": "UniProtKB:Q9BYV6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 55 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYV6-1", "PR:Q9BYV6-1", "ENSEMBL:ENSP00000323913", "ENSEMBL:ENSP00000323913.4"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z2W7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transient receptor potential cation channel subfamily M member 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2W7-1", "PR:Q7Z2W7-1", "ENSEMBL:ENSP00000323926", "ENSEMBL:ENSP00000323926.4"], "information_content": 100.0}
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{"id": "MONDO:0001121", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontal sinusitis", "equivalent_identifiers": ["MONDO:0001121", "DOID:10791", "UMLS:C0016735", "MESH:D015522", "NCIT:C34626", "SNOMEDCT:78737005", "medgen:8919"], "information_content": 92.8}
{"id": "NCBIGene:2", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "A2M", "equivalent_identifiers": ["NCBIGene:2", "ENSEMBL:ENSG00000175899", "HGNC:7", "OMIM:103950", "UMLS:C1412046", "UniProtKB:P01023", "PR:P01023", "ENSEMBL:ENSP00000323929", "ENSEMBL:ENSP00000323929.8", "UMLS:C3657870", "UMLS:C3813120", "MESH:C578813"], "information_content": 76.4}
{"id": "NCBIGene:51333", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF771", "equivalent_identifiers": ["NCBIGene:51333", "ENSEMBL:ENSG00000179965", "HGNC:29653", "UMLS:C1824044", "UniProtKB:B2R9V3", "UniProtKB:Q7L3S4", "PR:Q7L3S4", "ENSEMBL:ENSP00000323945", "ENSEMBL:ENSP00000323945.5", "ENSEMBL:ENSP00000416197", "ENSEMBL:ENSP00000416197.1"], "information_content": 95.4}
{"id": "UniProtKB:Q969G3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969G3-1", "PR:Q969G3-1", "ENSEMBL:ENSP00000323967", "ENSEMBL:ENSP00000323967.6", "ENSEMBL:ENSP00000496094", "ENSEMBL:ENSP00000496094.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NS87-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NS87-1", "PR:Q9NS87-1", "ENSEMBL:ENSP00000324020", "ENSEMBL:ENSP00000324020.4", "ENSEMBL:ENSP00000486004", "ENSEMBL:ENSP00000486004.1"], "information_content": 100.0}
{"id": "NCBIGene:977", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD151", "equivalent_identifiers": ["NCBIGene:977", "ENSEMBL:ENSG00000177697", "HGNC:1630", "OMIM:602243", "UMLS:C1413203", "UniProtKB:P48509", "PR:P48509", "ENSEMBL:ENSP00000324101", "ENSEMBL:ENSP00000324101.4", "ENSEMBL:ENSP00000380565", "ENSEMBL:ENSP00000380565.3", "ENSEMBL:ENSP00000380566", "ENSEMBL:ENSP00000380566.1", "ENSEMBL:ENSP00000432385", "ENSEMBL:ENSP00000432385.1", "UMLS:C0389372", "MESH:C554715", "UniProtKB:Q6ZNZ0"], "information_content": 95.4}
{"id": "UniProtKB:P13929-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-enolase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P13929-1", "PR:P13929-1", "ENSEMBL:ENSP00000324105", "ENSEMBL:ENSP00000324105.6", "ENSEMBL:ENSP00000430055", "ENSEMBL:ENSP00000430055.2", "ENSEMBL:ENSP00000431087", "ENSEMBL:ENSP00000431087.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWY3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U4/U6 small nuclear ribonucleoprotein Prp31 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWY3-1", "PR:Q8WWY3-1", "ENSEMBL:ENSP00000324122", "ENSEMBL:ENSP00000324122.4", "ENSEMBL:ENSP00000480434", "ENSEMBL:ENSP00000480434.1", "ENSEMBL:ENSP00000480725", "ENSEMBL:ENSP00000480725.1", "ENSEMBL:ENSP00000480726", "ENSEMBL:ENSP00000480726.1", "ENSEMBL:ENSP00000481201", "ENSEMBL:ENSP00000481201.1", "ENSEMBL:ENSP00000481654", "ENSEMBL:ENSP00000481654.1", "ENSEMBL:ENSP00000482626", "ENSEMBL:ENSP00000482626.1", "ENSEMBL:ENSP00000483929", "ENSEMBL:ENSP00000483929.1", "ENSEMBL:ENSP00000484896", "ENSEMBL:ENSP00000484896.1", "ENSEMBL:ENSP00000485017", "ENSEMBL:ENSP00000485017.1"], "information_content": 100.0}
{"id": "NCBIGene:5441", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR2L", "equivalent_identifiers": ["NCBIGene:5441", "ENSEMBL:ENSG00000177700", "HGNC:9199", "OMIM:601189", "UMLS:C1418750", "UniProtKB:P62875", "PR:P62875", "ENSEMBL:ENSP00000324124", "ENSEMBL:ENSP00000324124.4", "ENSEMBL:ENSP00000432807", "ENSEMBL:ENSP00000432807.1"], "information_content": 89.4}
{"id": "UniProtKB:Q9NYI0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PH and SEC7 domain-containing protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYI0-2", "PR:Q9NYI0-2", "ENSEMBL:ENSP00000324127", "ENSEMBL:ENSP00000324127.8"], "information_content": 100.0}
{"id": "NCBIGene:3309", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPA5", "equivalent_identifiers": ["NCBIGene:3309", "ENSEMBL:ENSG00000044574", "HGNC:5238", "OMIM:138120", "UMLS:C1415761", "UniProtKB:P11021", "PR:P11021", "ENSEMBL:ENSP00000324173", "ENSEMBL:ENSP00000324173.6", "UMLS:C4759837", "UMLS:C5565076", "MESH:C000717247", "MESH:D000091342", "UniProtKB:V9HWB4"], "information_content": 80.9}
{"id": "UniProtKB:Q6ZN01-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MEF2-activating motif and SAP domain-containing transcriptional regulator isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZN01-1", "PR:Q6ZN01-1", "ENSEMBL:ENSP00000324175", "ENSEMBL:ENSP00000324175.5"], "information_content": 100.0}
{"id": "MONDO:0010047", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 5A", "equivalent_identifiers": ["MONDO:0010047", "DOID:0110810", "OMIM:270800", "orphanet:100986", "UMLS:C1849115", "MESH:C564811", "NCIT:C177250", "SNOMEDCT:763373005", "medgen:376521"], "information_content": 100.0}
{"id": "MONDO:0014975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spastic paraplegia type 78", "equivalent_identifiers": ["MONDO:0014975", "DOID:0112348", "OMIM:617225", "orphanet:513436", "UMLS:C5567893", "SNOMEDCT:1177168007", "medgen:1799316"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5I3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium channel regulatory protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5I3-1", "PR:Q8N5I3-1", "ENSEMBL:ENSP00000324191", "ENSEMBL:ENSP00000324191.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMQ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase LMTK1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMQ8-1", "PR:Q6ZMQ8-1", "ENSEMBL:ENSP00000324196", "ENSEMBL:ENSP00000324196.4"], "information_content": 100.0}
{"id": "NCBIGene:55135", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WRAP53", "equivalent_identifiers": ["NCBIGene:55135", "ENSEMBL:ENSG00000141499", "HGNC:25522", "OMIM:612661", "UMLS:C1823843", "UniProtKB:Q9BUR4", "PR:Q9BUR4", "ENSEMBL:ENSP00000324203", "ENSEMBL:ENSP00000324203.5", "ENSEMBL:ENSP00000379727", "ENSEMBL:ENSP00000379727.3", "ENSEMBL:ENSP00000397219", "ENSEMBL:ENSP00000397219.2", "ENSEMBL:ENSP00000411061", "ENSEMBL:ENSP00000411061.2", "UMLS:C2713854", "UMLS:C3537359", "MESH:C535133"], "information_content": 95.4}
{"id": "NCBIGene:5021", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OXTR", "equivalent_identifiers": ["NCBIGene:5021", "ENSEMBL:ENSG00000180914", "HGNC:8529", "OMIM:167055", "UMLS:C1418209", "UniProtKB:B2R9L7", "UMLS:C3489838", "MESH:C569600", "UniProtKB:P30559", "PR:P30559", "ENSEMBL:ENSP00000324270", "ENSEMBL:ENSP00000324270.2"], "information_content": 90.9}
{"id": "MONDO:0010888", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenomyosis", "equivalent_identifiers": ["MONDO:0010888", "DOID:288", "OMIM:600458", "EFO:1001757", "UMLS:C0341858", "UMLS:C5574708", "MESH:D062788", "MEDDRA:10014787", "MEDDRA:10056268", "MEDDRA:10057288", "MEDDRA:10058953", "NCIT:C6996", "SNOMEDCT:237115002", "SNOMEDCT:76376003", "SNOMEDCT:784314006", "medgen:1805484", "icd11.foundation:171294592", "ICD10:N80.0", "ICD9:617.0", "HP:0034326"], "information_content": 95.4}
{"id": "UniProtKB:Q96LR9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apolipoprotein L domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LR9-1", "PR:Q96LR9-1", "ENSEMBL:ENSP00000324277", "ENSEMBL:ENSP00000324277.6"], "information_content": 100.0}
{"id": "NCBIGene:23527", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACAP2", "equivalent_identifiers": ["NCBIGene:23527", "ENSEMBL:ENSG00000114331", "HGNC:16469", "OMIM:607766", "UMLS:C1424304", "UniProtKB:Q15057", "PR:Q15057", "ENSEMBL:ENSP00000324287", "ENSEMBL:ENSP00000324287.6", "UMLS:C2741950", "MESH:C545104"], "information_content": 95.4}
{"id": "UniProtKB:Q8NFX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-binding protein 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFX7-1", "PR:Q8NFX7-1", "ENSEMBL:ENSP00000324302", "ENSEMBL:ENSP00000324302.5", "ENSEMBL:ENSP00000379928", "ENSEMBL:ENSP00000379928.1", "ENSEMBL:ENSP00000397212", "ENSEMBL:ENSP00000397212.2", "ENSEMBL:ENSP00000449379", "ENSEMBL:ENSP00000449379.1", "ENSEMBL:ENSP00000449536", "ENSEMBL:ENSP00000449536.1"], "information_content": 100.0}
{"id": "NCBIGene:51112", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRAPPC12", "equivalent_identifiers": ["NCBIGene:51112", "ENSEMBL:ENSG00000171853", "HGNC:24284", "OMIM:614139", "UMLS:C1428367", "UniProtKB:A0A0J9YXQ9", "ENSEMBL:ENSP00000488507", "ENSEMBL:ENSP00000488507.1", "UMLS:C4742084", "MESH:C000629061", "UniProtKB:Q8WVT3", "PR:Q8WVT3", "ENSEMBL:ENSP00000324318", "ENSEMBL:ENSP00000324318.5", "ENSEMBL:ENSP00000371544", "ENSEMBL:ENSP00000371544.2"], "information_content": 100.0}
{"id": "NCBIGene:255758", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYNLT2B", "equivalent_identifiers": ["NCBIGene:255758", "ENSEMBL:ENSG00000213123", "HGNC:28482", "OMIM:617353", "UMLS:C2240073", "UniProtKB:Q8WW35", "PR:Q8WW35", "ENSEMBL:ENSP00000324323", "ENSEMBL:ENSP00000324323.5", "UMLS:C3884545", "MESH:C000593114"], "information_content": 100.0}
{"id": "MONDO:0016002", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Nevo syndrome", "equivalent_identifiers": ["MONDO:0016002", "DOID:0080734", "OMIM:225400", "orphanet:1900", "UMLS:C0268342", "UMLS:C2936777", "UMLS:C4551497", "MESH:C536113", "MESH:C536198", "NCIT:C125700", "SNOMEDCT:25606004", "SNOMEDCT:718211004", "medgen:75672"], "information_content": 100.0}
{"id": "NCBIGene:51733", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UPB1", "equivalent_identifiers": ["NCBIGene:51733", "ENSEMBL:ENSG00000100024", "HGNC:16297", "OMIM:606673", "UMLS:C1424165", "UniProtKB:B3KNC1", "UMLS:C5197373", "MESH:C000632164", "UniProtKB:Q9UBR1", "PR:Q9UBR1", "ENSEMBL:ENSP00000324343", "ENSEMBL:ENSP00000324343.5"], "information_content": 95.4}
{"id": "UniProtKB:Q96EK2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PHD finger protein 21B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EK2-1", "PR:Q96EK2-1", "ENSEMBL:ENSP00000324403", "ENSEMBL:ENSP00000324403.5"], "information_content": 100.0}
{"id": "MONDO:0011283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 1", "equivalent_identifiers": ["MONDO:0011283", "DOID:0080119", "OMIM:603041", "UMLS:C4551995", "NCIT:C11967", "medgen:1631838"], "information_content": 100.0}
{"id": "NCBIGene:84260", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCHP", "equivalent_identifiers": ["NCBIGene:84260", "ENSEMBL:ENSG00000139437", "HGNC:28135", "OMIM:612654", "UMLS:C1823256", "UniProtKB:Q9BT92", "PR:Q9BT92", "ENSEMBL:ENSP00000324404", "ENSEMBL:ENSP00000324404.5", "ENSEMBL:ENSP00000384520", "ENSEMBL:ENSP00000384520.4", "ENSEMBL:ENSP00000440838", "ENSEMBL:ENSP00000440838.1", "UMLS:C1571223", "MESH:C502303"], "information_content": 100.0}
{"id": "UniProtKB:Q15942-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zyxin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15942-1", "PR:Q15942-1", "ENSEMBL:ENSP00000324422", "ENSEMBL:ENSP00000324422.5", "ENSEMBL:ENSP00000494798", "ENSEMBL:ENSP00000494798.1"], "information_content": 100.0}
{"id": "UniProtKB:P49750-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "YLP motif-containing protein 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P49750-4", "PR:P49750-4", "ENSEMBL:ENSP00000324463", "ENSEMBL:ENSP00000324463.7"], "information_content": 100.0}
{"id": "MONDO:0004742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary cerebellar degeneration", "equivalent_identifiers": ["MONDO:0004742", "DOID:9277", "UMLS:C0033132", "UMLS:C0037952", "MESH:D013132", "MEDDRA:10036686", "MEDDRA:10041620", "MEDDRA:10041621", "MEDDRA:10041622", "MEDDRA:10046176", "MEDDRA:10061551", "SNOMEDCT:23732000", "SNOMEDCT:91502009", "medgen:19466", "ICD9:334.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8WYJ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "septin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYJ6-1", "PR:Q8WYJ6-1", "ENSEMBL:ENSP00000324511", "ENSEMBL:ENSP00000324511.5", "ENSEMBL:ENSP00000498586", "ENSEMBL:ENSP00000498586.2"], "information_content": 100.0}
{"id": "NCBIGene:4642", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYO1D", "equivalent_identifiers": ["NCBIGene:4642", "ENSEMBL:ENSG00000176658", "HGNC:7598", "OMIM:606539", "UMLS:C1417561", "UniProtKB:J3KRL0", "ENSEMBL:ENSP00000462055", "ENSEMBL:ENSP00000462055.1", "UniProtKB:J3QRN6", "ENSEMBL:ENSP00000464305", "ENSEMBL:ENSP00000464305.1", "UniProtKB:K7EIG7", "ENSEMBL:ENSP00000464741", "ENSEMBL:ENSP00000464741.1", "UniProtKB:O94832", "PR:O94832", "ENSEMBL:ENSP00000324527", "ENSEMBL:ENSP00000324527.5", "UniProtKB:Q8N618"], "information_content": 86.3}
{"id": "UniProtKB:Q16787-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "laminin subunit alpha-3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16787-2", "PR:Q16787-2", "ENSEMBL:ENSP00000324532", "ENSEMBL:ENSP00000324532.8"], "information_content": 100.0}
{"id": "NCBIGene:127066", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR14C36", "equivalent_identifiers": ["NCBIGene:127066", "ENSEMBL:ENSG00000177174", "HGNC:15026", "UMLS:C2678540", "UniProtKB:Q8NHC7", "PR:Q8NHC7", "ENSEMBL:ENSP00000324534", "ENSEMBL:ENSP00000324534.1"], "information_content": 100.0}
{"id": "MONDO:0019134", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Neurocytoma", "equivalent_identifiers": ["MONDO:0019134", "DOID:14174", "orphanet:73256", "EFO:1000856", "UMLS:C0206719", "UMLS:C1622510", "MESH:D018306", "MEDDRA:10063564", "NCIT:C3791", "SNOMEDCT:128858006", "medgen:104924", "icd11.foundation:1247650801", "icd11.foundation:2039766091", "HP:0030064"], "information_content": 100.0}
{"id": "NCBIGene:8408", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ULK1", "equivalent_identifiers": ["NCBIGene:8408", "ENSEMBL:ENSG00000177169", "HGNC:12558", "OMIM:603168", "UMLS:C1421350", "UniProtKB:O75385", "PR:O75385", "ENSEMBL:ENSP00000324560", "ENSEMBL:ENSP00000324560.3", "UMLS:C1313678", "MESH:C484754"], "information_content": 89.4}
{"id": "UniProtKB:Q13045-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein flightless-1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13045-1", "PR:Q13045-1", "ENSEMBL:ENSP00000324573", "ENSEMBL:ENSP00000324573.4", "ENSEMBL:ENSP00000491480", "ENSEMBL:ENSP00000491480.1"], "information_content": 100.0}
{"id": "UniProtKB:P78312-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM193A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78312-1", "PR:P78312-1", "ENSEMBL:ENSP00000324587", "ENSEMBL:ENSP00000324587.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDQ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 540 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDQ6-1", "PR:Q8NDQ6-1", "ENSEMBL:ENSP00000324598", "ENSEMBL:ENSP00000324598.3", "ENSEMBL:ENSP00000343768", "ENSEMBL:ENSP00000343768.5", "ENSEMBL:ENSP00000466274", "ENSEMBL:ENSP00000466274.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99747-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-soluble NSF attachment protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99747-1", "PR:Q99747-1", "ENSEMBL:ENSP00000324628", "ENSEMBL:ENSP00000324628.6"], "information_content": 100.0}
{"id": "UniProtKB:P20813-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 2B6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20813-1", "PR:P20813-1", "ENSEMBL:ENSP00000324648", "ENSEMBL:ENSP00000324648.2"], "information_content": 100.0}
{"id": "MONDO:0001912", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute frontal sinusitis", "equivalent_identifiers": ["MONDO:0001912", "DOID:14225", "UMLS:C0155805", "MEDDRA:10000750", "SNOMEDCT:91038008", "medgen:510087", "icd11.foundation:86893536", "ICD10:J01.1", "ICD9:461.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXF1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 108 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXF1-1", "PR:Q6UXF1-1", "ENSEMBL:ENSP00000324651", "ENSEMBL:ENSP00000324651.6", "ENSEMBL:ENSP00000376838", "ENSEMBL:ENSP00000376838.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6UX73-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UPF0764 protein C16orf89 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UX73-1", "PR:Q6UX73-1", "ENSEMBL:ENSP00000324672", "ENSEMBL:ENSP00000324672.5"], "information_content": 100.0}
{"id": "MONDO:0008810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial apolipoprotein C-II deficiency", "equivalent_identifiers": ["MONDO:0008810", "DOID:0111418", "OMIM:207750", "orphanet:309020", "UMLS:C0268199", "UMLS:C1720779", "SNOMEDCT:33513003", "medgen:328375", "icd11.foundation:877401371"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZI5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "grainyhead-like protein 1 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZI5-1", "PR:Q9NZI5-1", "ENSEMBL:ENSP00000324693", "ENSEMBL:ENSP00000324693.9"], "information_content": 100.0}
{"id": "NCBIGene:10586", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAB21L2", "equivalent_identifiers": ["NCBIGene:10586", "ENSEMBL:ENSG00000181541", "HGNC:6758", "OMIM:604357", "UMLS:C1416955", "UniProtKB:Q9Y586", "PR:Q9Y586", "ENSEMBL:ENSP00000324701", "ENSEMBL:ENSP00000324701.4", "UMLS:C3849675", "MESH:C000589992"], "information_content": 95.4}
{"id": "NCBIGene:60485", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAV1", "equivalent_identifiers": ["NCBIGene:60485", "ENSEMBL:ENSG00000151748", "HGNC:17795", "OMIM:607203", "UMLS:C1425082", "UniProtKB:B3KTQ1", "UMLS:C1431969", "MESH:C415864", "UniProtKB:Q9H4B6", "PR:Q9H4B6", "ENSEMBL:ENSP00000324729", "ENSEMBL:ENSP00000324729.4"], "information_content": 92.8}
{"id": "UniProtKB:Q8WVR3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trafficking protein particle complex subunit 14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVR3-1", "PR:Q8WVR3-1", "ENSEMBL:ENSP00000324741", "ENSEMBL:ENSP00000324741.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCF5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NFATC2-interacting protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCF5-1", "PR:Q8NCF5-1", "ENSEMBL:ENSP00000324792", "ENSEMBL:ENSP00000324792.4"], "information_content": 100.0}
{"id": "NCBIGene:5518", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP2R1A", "equivalent_identifiers": ["NCBIGene:5518", "ENSEMBL:ENSG00000105568", "HGNC:9302", "OMIM:605983", "UMLS:C1418837", "UniProtKB:A8K7B7", "UMLS:C1871283", "MESH:C517191", "UniProtKB:B3KQV6", "ENSEMBL:ENSP00000470504", "ENSEMBL:ENSP00000470504.1", "ENSEMBL:ENSP00000515286", "ENSEMBL:ENSP00000515286.1", "ENSEMBL:ENSP00000515287", "ENSEMBL:ENSP00000515287.1", "ENSEMBL:ENSP00000515293", "ENSEMBL:ENSP00000515293.1", "UniProtKB:P30153", "PR:P30153", "ENSEMBL:ENSP00000324804", "ENSEMBL:ENSP00000324804.6", "UMLS:C2985164"], "information_content": 83.1}
{"id": "UniProtKB:P49841-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycogen synthase kinase-3 beta isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P49841-2", "PR:P49841-2", "ENSEMBL:ENSP00000324806", "ENSEMBL:ENSP00000324806.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96EY5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multivesicular body subunit 12A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EY5-1", "PR:Q96EY5-1", "ENSEMBL:ENSP00000324810", "ENSEMBL:ENSP00000324810.6"], "information_content": 100.0}
{"id": "UniProtKB:Q02040-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-kinase anchor protein 17A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02040-1", "PR:Q02040-1", "ENSEMBL:ENSP00000324827", "ENSEMBL:ENSP00000324827.3", "ENSEMBL:ENSP00000518597", "ENSEMBL:ENSP00000518597.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86V21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetoacetyl-CoA synthetase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86V21-1", "PR:Q86V21-1", "ENSEMBL:ENSP00000324842", "ENSEMBL:ENSP00000324842.6"], "information_content": 100.0}
{"id": "UniProtKB:Q15831-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase STK11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15831-1", "PR:Q15831-1", "ENSEMBL:ENSP00000324856", "ENSEMBL:ENSP00000324856.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFY4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "semaphorin-6D isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFY4-1", "PR:Q8NFY4-1", "ENSEMBL:ENSP00000324857", "ENSEMBL:ENSP00000324857.5", "ENSEMBL:ENSP00000446152", "ENSEMBL:ENSP00000446152.3"], "information_content": 100.0}
{"id": "UniProtKB:P10747-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell-specific surface glycoprotein CD28 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P10747-1", "PR:P10747-1", "ENSEMBL:ENSP00000324890", "ENSEMBL:ENSP00000324890.7"], "information_content": 95.4}
{"id": "UniProtKB:Q8N0W5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IQ domain-containing protein K isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N0W5-1", "PR:Q8N0W5-1", "ENSEMBL:ENSP00000324901", "ENSEMBL:ENSP00000324901.6", "ENSEMBL:ENSP00000511791", "ENSEMBL:ENSP00000511791.1"], "information_content": 100.0}
{"id": "NCBIGene:317761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C14orf39", "equivalent_identifiers": ["NCBIGene:317761", "ENSEMBL:ENSG00000179008", "HGNC:19849", "OMIM:617307", "UMLS:C1426476", "UniProtKB:Q8N1H7", "PR:Q8N1H7", "ENSEMBL:ENSP00000324920", "ENSEMBL:ENSP00000324920.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZNC8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysophospholipid acyltransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZNC8-1", "PR:Q6ZNC8-1", "ENSEMBL:ENSP00000324944", "ENSEMBL:ENSP00000324944.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBS8-1", "PR:Q9UBS8-1", "ENSEMBL:ENSP00000324956", "ENSEMBL:ENSP00000324956.3", "ENSEMBL:ENSP00000348462", "ENSEMBL:ENSP00000348462.1", "ENSEMBL:ENSP00000378027", "ENSEMBL:ENSP00000378027.1", "ENSEMBL:ENSP00000378028", "ENSEMBL:ENSP00000378028.2"], "information_content": 100.0}
{"id": "NCBIGene:81309", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4C15", "equivalent_identifiers": ["NCBIGene:81309", "ENSEMBL:ENSG00000181939", "HGNC:15171", "UMLS:C1423265", "UniProtKB:A0A2C9F2M4", "ENSEMBL:ENSP00000324958", "ENSEMBL:ENSP00000324958.2", "UniProtKB:Q8NGM1", "PR:Q8NGM1", "ENSEMBL:ENSP00000493126", "ENSEMBL:ENSP00000493126.1"]}
{"id": "MONDO:0005806", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypopharynx cancer", "equivalent_identifiers": ["MONDO:0005806", "DOID:8533", "EFO:0007321", "UMLS:C0153398", "UMLS:C0496770", "MESH:D007012", "MEDDRA:10021042", "MEDDRA:10025963", "MEDDRA:10025970", "MEDDRA:10026363", "NCIT:C194061", "NCIT:C7190", "SNOMEDCT:303012000", "SNOMEDCT:363399006", "medgen:102266", "ICD10:C13", "ICD10:C13.2", "ICD9:148", "ICD9:148.3"], "information_content": 73.7}
{"id": "UniProtKB:P57796-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-binding protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P57796-1", "PR:P57796-1", "ENSEMBL:ENSP00000324960", "ENSEMBL:ENSP00000324960.5"], "information_content": 100.0}
{"id": "MONDO:0013963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 93", "equivalent_identifiers": ["MONDO:0013963", "DOID:0110537", "OMIM:614899", "UMLS:C3888355", "medgen:854875"], "information_content": 100.0}
{"id": "NCBIGene:22820", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COPG1", "equivalent_identifiers": ["NCBIGene:22820", "ENSEMBL:ENSG00000181789", "HGNC:2236", "OMIM:615525", "UMLS:C1413610", "UniProtKB:Q9Y678", "PR:Q9Y678", "ENSEMBL:ENSP00000325002", "ENSEMBL:ENSP00000325002.6", "UMLS:C4307648", "MESH:C000612051"], "information_content": 84.8}
{"id": "NCBIGene:9918", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCAPD2", "equivalent_identifiers": ["NCBIGene:9918", "ENSEMBL:ENSG00000010292", "HGNC:24305", "OMIM:615638", "UMLS:C1826380", "UniProtKB:B3KMS0", "UMLS:C1439186", "MESH:C413383", "UniProtKB:B3KY03", "UniProtKB:Q15021", "PR:Q15021", "ENSEMBL:ENSP00000325017", "ENSEMBL:ENSP00000325017.5"], "information_content": 79.9}
{"id": "UniProtKB:Q5MCW4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 569 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5MCW4-1", "PR:Q5MCW4-1", "ENSEMBL:ENSP00000325018", "ENSEMBL:ENSP00000325018.5", "ENSEMBL:ENSP00000375992", "ENSEMBL:ENSP00000375992.2"], "information_content": 100.0}
{"id": "UniProtKB:P63151-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P63151-2", "PR:P63151-2", "ENSEMBL:ENSP00000325074", "ENSEMBL:ENSP00000325074.7"], "information_content": 100.0}
{"id": "UniProtKB:Q5VUJ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat and calponin homology domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VUJ6-1", "PR:Q5VUJ6-1", "ENSEMBL:ENSP00000325091", "ENSEMBL:ENSP00000325091.8"], "information_content": 100.0}
{"id": "MONDO:0033479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 44", "equivalent_identifiers": ["MONDO:0033479", "DOID:0080286", "OMIM:617691", "orphanet:631095", "UMLS:C4521563", "medgen:1611168"], "information_content": 100.0}
{"id": "MONDO:0013905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 13", "equivalent_identifiers": ["MONDO:0013905", "DOID:0080062", "OMIM:614831", "orphanet:324262", "UMLS:C3553816", "medgen:766730"], "information_content": 100.0}
{"id": "UniProtKB:P06401-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "progesterone receptor isoform B (human)", "equivalent_identifiers": ["UniProtKB:P06401-1", "PR:P06401-1", "ENSEMBL:ENSP00000325120", "ENSEMBL:ENSP00000325120.5"], "information_content": 100.0}
{"id": "MONDO:0006036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulosa cell tumor", "equivalent_identifiers": ["MONDO:0006036", "DOID:2999", "EFO:1000032", "UMLS:C0018206", "UMLS:C0334401", "MESH:D006106", "NCIT:C3070", "NCIT:C4205", "SNOMEDCT:18861007", "medgen:6676"], "information_content": 82.6}
{"id": "MONDO:0005094", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemangiopericytoma", "equivalent_identifiers": ["MONDO:0005094", "DOID:264", "UMLS:C0018922", "MESH:D006393", "MEDDRA:10018825", "MEDDRA:10060541", "NCIT:C3087", "SNOMEDCT:128736003", "SNOMEDCT:134335004", "medgen:5478"], "information_content": 78.0}
{"id": "MONDO:0018523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic mucinous cystadenoma", "equivalent_identifiers": ["MONDO:0018523", "DOID:7235", "DOID:7735", "orphanet:424053", "UMLS:C1335309", "MEDDRA:10087708", "NCIT:C5718", "SNOMEDCT:690751000119102", "medgen:277492"], "information_content": 100.0}
{"id": "NCBIGene:81327", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4A16", "equivalent_identifiers": ["NCBIGene:81327", "ENSEMBL:ENSG00000181961", "HGNC:15153", "UMLS:C1423248", "UniProtKB:A0A126GW87", "UniProtKB:Q8NH70", "PR:Q8NH70", "ENSEMBL:ENSP00000325128", "ENSEMBL:ENSP00000325128.2"], "information_content": 100.0}
{"id": "UniProtKB:P55084-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trifunctional enzyme subunit beta, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P55084-1", "PR:P55084-1", "ENSEMBL:ENSP00000325136", "ENSEMBL:ENSP00000325136.5"], "information_content": 100.0}
{"id": "UniProtKB:Q99715-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XII) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99715-1", "PR:Q99715-1", "ENSEMBL:ENSP00000325146", "ENSEMBL:ENSP00000325146.8"], "information_content": 100.0}
{"id": "NCBIGene:29895", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYL11", "equivalent_identifiers": ["NCBIGene:29895", "ENSEMBL:ENSG00000180209", "HGNC:29824", "OMIM:617378", "UMLS:C2681932", "UniProtKB:Q96A32", "PR:Q96A32", "ENSEMBL:ENSP00000325239", "ENSEMBL:ENSP00000325239.7"], "information_content": 90.9}
{"id": "UniProtKB:Q14847-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM and SH3 domain protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14847-1", "PR:Q14847-1", "ENSEMBL:ENSP00000325240", "ENSEMBL:ENSP00000325240.6"], "information_content": 100.0}
{"id": "NCBIGene:9110", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTMR4", "equivalent_identifiers": ["NCBIGene:9110", "ENSEMBL:ENSG00000108389", "HGNC:7452", "OMIM:603559", "UMLS:C1417438", "UniProtKB:A0A804HJV7", "ENSEMBL:ENSP00000507664", "ENSEMBL:ENSP00000507664.1", "UniProtKB:Q9NYA4", "PR:Q9NYA4", "ENSEMBL:ENSP00000325285", "ENSEMBL:ENSP00000325285.5", "UMLS:C1309920", "MESH:C427064"], "information_content": 87.2}
{"id": "MONDO:0100316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "long QT syndrome 1", "equivalent_identifiers": ["MONDO:0100316", "DOID:0110644", "OMIM:192500", "UMLS:C1843738", "UMLS:C3277700", "UMLS:C4551647", "MESH:D029597", "MEDDRA:10039211", "NCIT:C85049", "SNOMEDCT:20852007", "medgen:1641146", "ICD10:I45.8"], "information_content": 100.0}
{"id": "UniProtKB:Q8TF76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase haspin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF76-1", "PR:Q8TF76-1", "ENSEMBL:ENSP00000325290", "ENSEMBL:ENSP00000325290.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9P0L9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polycystin-2-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0L9-1", "PR:Q9P0L9-1", "ENSEMBL:ENSP00000325296", "ENSEMBL:ENSP00000325296.3"], "information_content": 100.0}
{"id": "NCBIGene:150383", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDPF1", "equivalent_identifiers": ["NCBIGene:150383", "ENSEMBL:ENSG00000205643", "HGNC:33710", "UMLS:C2681318", "UniProtKB:F6UL18", "ENSEMBL:ENSP00000385460", "ENSEMBL:ENSP00000385460.1", "UniProtKB:Q6NVV7", "PR:Q6NVV7", "ENSEMBL:ENSP00000325301", "ENSEMBL:ENSP00000325301.3"], "information_content": 100.0}
{"id": "MONDO:0018921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome", "equivalent_identifiers": ["MONDO:0018921", "DOID:0050778", "OMIM.PS:249000", "orphanet:564", "UMLS:C0265215", "NCIT:C98978", "SNOMEDCT:29076005", "medgen:120513", "icd11.foundation:695796893", "ICD9:753.1"], "information_content": 82.1}
{"id": "UniProtKB:P50579-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methionine aminopeptidase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50579-1", "PR:P50579-1", "ENSEMBL:ENSP00000325312", "ENSEMBL:ENSP00000325312.5"], "information_content": 100.0}
{"id": "UniProtKB:Q66K74-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-associated protein 1S isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q66K74-1", "PR:Q66K74-1", "ENSEMBL:ENSP00000325313", "ENSEMBL:ENSP00000325313.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H4Z2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 335 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4Z2-1", "PR:Q9H4Z2-1", "ENSEMBL:ENSP00000325326", "ENSEMBL:ENSP00000325326.2"], "information_content": 100.0}
{"id": "MONDO:0014117", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4B3", "equivalent_identifiers": ["MONDO:0014117", "DOID:0110194", "OMIM:615284", "orphanet:363981", "UMLS:C3695063", "NCIT:C190871", "SNOMEDCT:763345008", "medgen:811329"], "information_content": 100.0}
{"id": "NCBIGene:1176", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AP3S1", "equivalent_identifiers": ["NCBIGene:1176", "ENSEMBL:ENSG00000177879", "HGNC:2013", "OMIM:601507", "UMLS:C1413445", "UniProtKB:F5H459", "ENSEMBL:ENSP00000446179", "ENSEMBL:ENSP00000446179.1", "UMLS:C1308788", "MESH:C115637", "UniProtKB:Q92572", "PR:Q92572", "ENSEMBL:ENSP00000325369", "ENSEMBL:ENSP00000325369.7"], "information_content": 95.4}
{"id": "UniProtKB:P52272-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein M isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P52272-1", "PR:P52272-1", "ENSEMBL:ENSP00000325376", "ENSEMBL:ENSP00000325376.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0J8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pre-mRNA 3' end processing protein WDR33 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0J8-1", "PR:Q9C0J8-1", "ENSEMBL:ENSP00000325377", "ENSEMBL:ENSP00000325377.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3C4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EKC/KEOPS complex subunit TPRKB isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3C4-3", "PR:Q9Y3C4-3", "ENSEMBL:ENSP00000325398", "ENSEMBL:ENSP00000325398.7", "ENSEMBL:ENSP00000386936", "ENSEMBL:ENSP00000386936.2", "ENSEMBL:ENSP00000516940", "ENSEMBL:ENSP00000516940.1", "ENSEMBL:ENSP00000516941", "ENSEMBL:ENSP00000516941.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H300-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "presenilin-associated rhomboid-like protein, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H300-1", "PR:Q9H300-1", "ENSEMBL:ENSP00000325421", "ENSEMBL:ENSP00000325421.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZL9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methionine adenosyltransferase 2 subunit beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZL9-1", "PR:Q9NZL9-1", "ENSEMBL:ENSP00000325425", "ENSEMBL:ENSP00000325425.6"], "information_content": 100.0}
{"id": "UniProtKB:Q15046-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine--tRNA ligase isoform Mitochondrial (human)", "equivalent_identifiers": ["UniProtKB:Q15046-2", "PR:Q15046-2", "ENSEMBL:ENSP00000325448", "ENSEMBL:ENSP00000325448.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5B7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ceramide synthase 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5B7-1", "PR:Q8N5B7-1", "ENSEMBL:ENSP00000325485", "ENSEMBL:ENSP00000325485.6"], "information_content": 100.0}
{"id": "UniProtKB:Q6IPW1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C11orf71 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6IPW1-2", "PR:Q6IPW1-2", "ENSEMBL:ENSP00000325508", "ENSEMBL:ENSP00000325508.4"], "information_content": 100.0}
{"id": "UniProtKB:P43630-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "killer cell immunoglobulin-like receptor 3DL2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43630-1", "PR:P43630-1", "ENSEMBL:ENSP00000325525", "ENSEMBL:ENSP00000325525.3", "ENSEMBL:ENSP00000477516", "ENSEMBL:ENSP00000477516.1", "ENSEMBL:ENSP00000479772", "ENSEMBL:ENSP00000479772.1", "ENSEMBL:ENSP00000479903", "ENSEMBL:ENSP00000479903.1", "ENSEMBL:ENSP00000481579", "ENSEMBL:ENSP00000481579.1", "ENSEMBL:ENSP00000482110", "ENSEMBL:ENSP00000482110.1"], "information_content": 100.0}
{"id": "NCBIGene:7481", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT11", "equivalent_identifiers": ["NCBIGene:7481", "ENSEMBL:ENSG00000085741", "HGNC:12776", "OMIM:603699", "UMLS:C1421512", "UniProtKB:M4IS22", "UniProtKB:O96014", "PR:O96014", "ENSEMBL:ENSP00000325526", "ENSEMBL:ENSP00000325526.3", "UMLS:C1458138", "MESH:C540523"], "information_content": 89.4}
{"id": "NCBIGene:2200", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBN1", "equivalent_identifiers": ["NCBIGene:2200", "ENSEMBL:ENSG00000166147", "HGNC:3603", "OMIM:134797", "UMLS:C1414542", "UniProtKB:P35555", "PR:P35555", "ENSEMBL:ENSP00000325527", "ENSEMBL:ENSP00000325527.5", "UMLS:C4308213", "MESH:C000605722"], "information_content": 78.0}
{"id": "MONDO:0015333", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progeroid syndrome", "equivalent_identifiers": ["MONDO:0015333", "DOID:0081332", "orphanet:139033", "UMLS:C5848146", "medgen:1864204"], "information_content": 79.3}
{"id": "MONDO:0009153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectopia lentis et pupillae", "equivalent_identifiers": ["MONDO:0009153", "DOID:0111648", "OMIM:225200", "UMLS:C1644196", "MESH:C563268", "SNOMEDCT:419237004", "medgen:301316"], "information_content": 100.0}
{"id": "MONDO:0007036", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Achard syndrome", "equivalent_identifiers": ["MONDO:0007036", "DOID:6686", "OMIM:100700", "UMLS:C1332135", "MESH:C536012", "NCIT:C35809", "medgen:272277"], "information_content": 100.0}
{"id": "UniProtKB:Q6DJT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein PLAG1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6DJT9-1", "PR:Q6DJT9-1", "ENSEMBL:ENSP00000325546", "ENSEMBL:ENSP00000325546.3", "ENSEMBL:ENSP00000416537", "ENSEMBL:ENSP00000416537.2"], "information_content": 100.0}
{"id": "MONDO:0002200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eccrine mixed tumor of skin", "equivalent_identifiers": ["MONDO:0002200", "DOID:2079", "EFO:1000385", "UMLS:C0346026", "NCIT:C4474", "SNOMEDCT:254720009", "SNOMEDCT:400144002", "medgen:91074"], "information_content": 95.4}
{"id": "MONDO:0002804", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "apocrine adenoma", "equivalent_identifiers": ["MONDO:0002804", "DOID:3895", "UMLS:C0334345", "UMLS:C5970487", "MEDDRA:10072669", "NCIT:C27527", "NCIT:C4168", "SNOMEDCT:307596009", "SNOMEDCT:36318001", "medgen:90767"], "information_content": 89.4}
{"id": "UniProtKB:Q96KP4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic non-specific dipeptidase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96KP4-1", "PR:Q96KP4-1", "ENSEMBL:ENSP00000325548", "ENSEMBL:ENSP00000325548.4", "ENSEMBL:ENSP00000462311", "ENSEMBL:ENSP00000462311.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IU68-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane channel-like protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IU68-1", "PR:Q8IU68-1", "ENSEMBL:ENSP00000325561", "ENSEMBL:ENSP00000325561.4"], "information_content": 100.0}
{"id": "MONDO:0001795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plantar wart", "equivalent_identifiers": ["MONDO:0001795", "DOID:13775", "EFO:1002023", "UMLS:C0042548", "MEDDRA:10035158", "NCIT:C26913", "SNOMEDCT:1296907001", "SNOMEDCT:63440008", "medgen:53003", "ICD10:B07.0", "ICD9:078.12", "HP:0033005"], "information_content": 100.0}
{"id": "MONDO:0011708", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 36", "equivalent_identifiers": ["MONDO:0011708", "DOID:0110563", "OMIM:606705", "UMLS:C1847626", "MESH:C564675", "NCIT:C174444", "medgen:376173"], "information_content": 100.0}
{"id": "UniProtKB:Q5TGZ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MICOS complex subunit MIC10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TGZ0-1", "PR:Q5TGZ0-1", "ENSEMBL:ENSP00000325562", "ENSEMBL:ENSP00000325562.6"], "information_content": 100.0}
{"id": "NCBIGene:342898", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYCN", "equivalent_identifiers": ["NCBIGene:342898", "ENSEMBL:ENSG00000179751", "HGNC:18442", "OMIM:620140", "UMLS:C1539904", "UniProtKB:Q0VAF6", "PR:Q0VAF6", "ENSEMBL:ENSP00000325564", "ENSEMBL:ENSP00000325564.6"], "information_content": 95.4}
{"id": "UniProtKB:Q96T51-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RUN and FYVE domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96T51-1", "PR:Q96T51-1", "ENSEMBL:ENSP00000325594", "ENSEMBL:ENSP00000325594.4", "ENSEMBL:ENSP00000492748", "ENSEMBL:ENSP00000492748.1"], "information_content": 100.0}
{"id": "MONDO:0014282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 72", "equivalent_identifiers": ["MONDO:0014282", "DOID:0070642", "DOID:0110817", "OMIM:615625", "orphanet:401849", "UMLS:C5882669", "medgen:1847422"], "information_content": 100.0}
{"id": "MONDO:0011522", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 14", "equivalent_identifiers": ["MONDO:0011522", "DOID:0110767", "OMIM:605229", "orphanet:100995", "UMLS:C1854568", "MESH:C537486", "SNOMEDCT:783094006", "medgen:343157"], "information_content": 100.0}
{"id": "MONDO:0011992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 25", "equivalent_identifiers": ["MONDO:0011992", "DOID:0110776", "OMIM:608220", "orphanet:101005", "UMLS:C2936860", "MESH:C536861", "SNOMEDCT:732933009", "medgen:424835"], "information_content": 100.0}
{"id": "NCBIGene:51193", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF639", "equivalent_identifiers": ["NCBIGene:51193", "ENSEMBL:ENSG00000121864", "HGNC:30950", "OMIM:619214", "UMLS:C1538211", "UniProtKB:Q9UID6", "PR:Q9UID6", "ENSEMBL:ENSP00000325634", "ENSEMBL:ENSP00000325634.3", "ENSEMBL:ENSP00000417740", "ENSEMBL:ENSP00000417740.1", "ENSEMBL:ENSP00000418766", "ENSEMBL:ENSP00000418766.1", "ENSEMBL:ENSP00000477626", "ENSEMBL:ENSP00000477626.1", "UMLS:C1313507", "MESH:C479231"], "information_content": 92.8}
{"id": "MONDO:0004650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant carotid body paraganglioma", "equivalent_identifiers": ["MONDO:0004650", "DOID:8731", "UMLS:C0153656", "UMLS:C5972501", "MEDDRA:10025816", "NCIT:C3574", "SNOMEDCT:16822006", "SNOMEDCT:447883002", "medgen:56318", "ICD10:C75.4", "ICD9:194.5"], "information_content": 100.0}
{"id": "MONDO:0013994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 20", "equivalent_identifiers": ["MONDO:0013994", "DOID:0110989", "OMIM:614970", "UMLS:C3554235", "medgen:767149"], "information_content": 100.0}
{"id": "NCBIGene:58531", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRM3", "equivalent_identifiers": ["NCBIGene:58531", "ENSEMBL:ENSG00000178257", "HGNC:13732", "UMLS:C1422170", "UniProtKB:Q9NNZ6", "PR:Q9NNZ6", "ENSEMBL:ENSP00000325638", "ENSEMBL:ENSP00000325638.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSY4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSY4-1", "PR:Q9BSY4-1", "ENSEMBL:ENSP00000325655", "ENSEMBL:ENSP00000325655.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYH8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NF-kappa-B inhibitor zeta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYH8-1", "PR:Q9BYH8-1", "ENSEMBL:ENSP00000325663", "ENSEMBL:ENSP00000325663.5"], "information_content": 100.0}
{"id": "UniProtKB:O75150-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase BRE1B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75150-1", "PR:O75150-1", "ENSEMBL:ENSP00000325677", "ENSEMBL:ENSP00000325677.6"], "information_content": 100.0}
{"id": "UniProtKB:P86791", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCZ1_HUMAN Vacuolar fusion protein CCZ1 homolog (sprot)", "equivalent_identifiers": ["UniProtKB:P86791", "PR:P86791", "ENSEMBL:ENSP00000325681", "ENSEMBL:ENSP00000325681.6"], "information_content": 88.2}
{"id": "UniProtKB:Q86X55-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-arginine methyltransferase CARM1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q86X55-3", "PR:Q86X55-3", "ENSEMBL:ENSP00000325690", "ENSEMBL:ENSP00000325690.4"], "information_content": 100.0}
{"id": "UniProtKB:P11049-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukocyte antigen CD37 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11049-1", "PR:P11049-1", "ENSEMBL:ENSP00000325708", "ENSEMBL:ENSP00000325708.3"], "information_content": 100.0}
{"id": "NCBIGene:7142", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNP2", "equivalent_identifiers": ["NCBIGene:7142", "ENSEMBL:ENSG00000178279", "HGNC:11952", "OMIM:190232", "UMLS:C1420831", "UniProtKB:Q05952", "PR:Q05952", "ENSEMBL:ENSP00000325738", "ENSEMBL:ENSP00000325738.3", "UMLS:C1504710", "UniProtKB:Q4VB56"], "information_content": 100.0}
{"id": "UniProtKB:O00506-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase 25 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00506-1", "PR:O00506-1", "ENSEMBL:ENSP00000325748", "ENSEMBL:ENSP00000325748.4", "ENSEMBL:ENSP00000384162", "ENSEMBL:ENSP00000384162.3", "ENSEMBL:ENSP00000385687", "ENSEMBL:ENSP00000385687.1"], "information_content": 100.0}
{"id": "NCBIGene:349149", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJC3", "equivalent_identifiers": ["NCBIGene:349149", "ENSEMBL:ENSG00000176402", "HGNC:17495", "OMIM:611925", "UMLS:C2677835", "UniProtKB:Q8NFK1", "PR:Q8NFK1", "ENSEMBL:ENSP00000325775", "ENSEMBL:ENSP00000325775.2", "UMLS:C1143032", "MESH:C464674"], "information_content": 100.0}
{"id": "UniProtKB:Q69YQ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytospin-A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q69YQ0-1", "PR:Q69YQ0-1", "ENSEMBL:ENSP00000325785", "ENSEMBL:ENSP00000325785.8", "ENSEMBL:ENSP00000393363", "ENSEMBL:ENSP00000393363.1"], "information_content": 100.0}
{"id": "MONDO:0016824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Myofibromatosis", "equivalent_identifiers": ["MONDO:0016824", "DOID:0080109", "OMIM.PS:228550", "orphanet:2591", "UMLS:C0206648", "UMLS:C0432284", "MESH:D018224", "NCIT:C3742", "SNOMEDCT:1285183007", "SNOMEDCT:238860001", "SNOMEDCT:73767002", "medgen:140933", "HP:0020135"], "information_content": 87.2}
{"id": "NCBIGene:7025", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NR2F1", "equivalent_identifiers": ["NCBIGene:7025", "ENSEMBL:ENSG00000175745", "HGNC:7975", "OMIM:132890", "UMLS:C1417833", "UniProtKB:A0A8V8TQQ6", "ENSEMBL:ENSP00000514863", "ENSEMBL:ENSP00000514863.1", "UniProtKB:P10589", "PR:P10589", "ENSEMBL:ENSP00000325819", "ENSEMBL:ENSP00000325819.3", "UMLS:C1429743", "MESH:C497589"], "information_content": 100.0}
{"id": "NCBIGene:1585", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP11B2", "equivalent_identifiers": ["NCBIGene:1585", "ENSEMBL:ENSG00000179142", "HGNC:2592", "OMIM:124080", "UMLS:C1413857", "UniProtKB:P19099", "PR:P19099", "ENSEMBL:ENSP00000325822", "ENSEMBL:ENSP00000325822.2", "UMLS:C1527416"], "information_content": 87.2}
{"id": "MONDO:0008803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Antley-Bixler syndrome", "equivalent_identifiers": ["MONDO:0008803", "DOID:0050462", "DOID:0081289", "orphanet:83", "UMLS:C5234850", "MEDDRA:10083864", "SNOMEDCT:62964007", "medgen:1714404", "icd11.foundation:2027710139"], "information_content": 92.8}
{"id": "UniProtKB:O15027-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein transport protein Sec16A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15027-1", "PR:O15027-1", "ENSEMBL:ENSP00000325827", "ENSEMBL:ENSP00000325827.7", "ENSEMBL:ENSP00000508822", "ENSEMBL:ENSP00000508822.1"], "information_content": 100.0}
{"id": "MONDO:0013897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Loeys-Dietz syndrome 4", "equivalent_identifiers": ["MONDO:0013897", "DOID:0070233", "OMIM:614816", "UMLS:C3553762", "medgen:766676"], "information_content": 100.0}
{"id": "UniProtKB:P49959-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "double-strand break repair protein MRE11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49959-1", "PR:P49959-1", "ENSEMBL:ENSP00000325863", "ENSEMBL:ENSP00000325863.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96PU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ciliary microtubule associated protein 1A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PU9-1", "PR:Q96PU9-1", "ENSEMBL:ENSP00000325868", "ENSEMBL:ENSP00000325868.5"], "information_content": 100.0}
{"id": "UniProtKB:Q16629-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/arginine-rich splicing factor 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16629-1", "PR:Q16629-1", "ENSEMBL:ENSP00000325905", "ENSEMBL:ENSP00000325905.6"], "information_content": 100.0}
{"id": "NCBIGene:9159", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCSK7", "equivalent_identifiers": ["NCBIGene:9159", "ENSEMBL:ENSG00000160613", "HGNC:8748", "OMIM:604872", "UMLS:C1418392", "UniProtKB:Q16549", "PR:Q16549", "ENSEMBL:ENSP00000325917", "ENSEMBL:ENSP00000325917.3", "ENSEMBL:ENSP00000433841", "ENSEMBL:ENSP00000433841.2", "ENSEMBL:ENSP00000501995", "ENSEMBL:ENSP00000501995.1", "UMLS:C1438155", "MESH:C099101"], "information_content": 92.8}
{"id": "UniProtKB:Q969U7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome assembly chaperone 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969U7-1", "PR:Q969U7-1", "ENSEMBL:ENSP00000325919", "ENSEMBL:ENSP00000325919.6"], "information_content": 100.0}
{"id": "NCBIGene:222484", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LNX2", "equivalent_identifiers": ["NCBIGene:222484", "ENSEMBL:ENSG00000139517", "HGNC:20421", "OMIM:609733", "UMLS:C1426929", "UniProtKB:Q8N448", "PR:Q8N448", "ENSEMBL:ENSP00000325929", "ENSEMBL:ENSP00000325929.3", "ENSEMBL:ENSP00000497224", "ENSEMBL:ENSP00000497224.1", "UMLS:C3490939", "MESH:C570847"], "information_content": 95.4}
{"id": "UniProtKB:Q9NPQ8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chaperone Ric-8A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPQ8-3", "PR:Q9NPQ8-3", "ENSEMBL:ENSP00000325941", "ENSEMBL:ENSP00000325941.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZTQ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-related family member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZTQ4-1", "PR:Q6ZTQ4-1", "ENSEMBL:ENSP00000325954", "ENSEMBL:ENSP00000325954.9"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUK0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUK0-1", "PR:Q8WUK0-1", "ENSEMBL:ENSP00000325958", "ENSEMBL:ENSP00000325958.9"], "information_content": 100.0}
{"id": "UniProtKB:Q6UY01-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 31 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UY01-1", "PR:Q6UY01-1", "ENSEMBL:ENSP00000325978", "ENSEMBL:ENSP00000325978.5"], "information_content": 100.0}
{"id": "NCBIGene:150962", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PUS10", "equivalent_identifiers": ["NCBIGene:150962", "ENSEMBL:ENSG00000162927", "HGNC:26505", "OMIM:612787", "UMLS:C2239865", "UniProtKB:A8K6R4", "UniProtKB:Q3MIT2", "PR:Q3MIT2", "ENSEMBL:ENSP00000326003", "ENSEMBL:ENSP00000326003.6", "ENSEMBL:ENSP00000386074", "ENSEMBL:ENSP00000386074.1"], "information_content": 92.8}
{"id": "UniProtKB:Q9BXM0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "periaxin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXM0-1", "PR:Q9BXM0-1", "ENSEMBL:ENSP00000326018", "ENSEMBL:ENSP00000326018.6"], "information_content": 100.0}
{"id": "NCBIGene:9457", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FHL5", "equivalent_identifiers": ["NCBIGene:9457", "ENSEMBL:ENSG00000112214", "HGNC:17371", "OMIM:605126", "UMLS:C1424942", "UniProtKB:Q5TD97", "PR:Q5TD97", "ENSEMBL:ENSP00000326022", "ENSEMBL:ENSP00000326022.2", "ENSEMBL:ENSP00000396390", "ENSEMBL:ENSP00000396390.2", "ENSEMBL:ENSP00000442357", "ENSEMBL:ENSP00000442357.1", "UMLS:C1615519", "MESH:C504656"], "information_content": 95.4}
{"id": "UniProtKB:P62136-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase PP1-alpha catalytic subunit isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P62136-2", "PR:P62136-2", "ENSEMBL:ENSP00000326031", "ENSEMBL:ENSP00000326031.7"], "information_content": 100.0}
{"id": "NCBIGene:113457", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBA3D", "equivalent_identifiers": ["NCBIGene:113457", "ENSEMBL:ENSG00000075886", "HGNC:24071", "OMIM:617878", "UMLS:C2240133", "UniProtKB:P0DPH8", "PR:P0DPH8", "ENSEMBL:ENSP00000326042", "ENSEMBL:ENSP00000326042.6"], "information_content": 89.4}
{"id": "NCBIGene:84987", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX14", "equivalent_identifiers": ["NCBIGene:84987", "ENSEMBL:ENSG00000178449", "HGNC:28216", "OMIM:614478", "UMLS:C1824382", "UniProtKB:Q96I36", "PR:Q96I36", "ENSEMBL:ENSP00000326052", "ENSEMBL:ENSP00000326052.2", "ENSEMBL:ENSP00000446524", "ENSEMBL:ENSP00000446524.1", "ENSEMBL:ENSP00000447776", "ENSEMBL:ENSP00000447776.1", "ENSEMBL:ENSP00000450331", "ENSEMBL:ENSP00000450331.1", "UMLS:C3490695", "MESH:C570605"], "information_content": 90.9}
{"id": "UniProtKB:Q9NV64-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 39A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NV64-1", "PR:Q9NV64-1", "ENSEMBL:ENSP00000326063", "ENSEMBL:ENSP00000326063.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96GZ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 41 member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GZ6-1", "PR:Q96GZ6-1", "ENSEMBL:ENSP00000326070", "ENSEMBL:ENSP00000326070.6"], "information_content": 100.0}
{"id": "UniProtKB:Q96A37-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF166 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96A37-1", "PR:Q96A37-1", "ENSEMBL:ENSP00000326095", "ENSEMBL:ENSP00000326095.4"], "information_content": 100.0}
{"id": "NCBIGene:90355", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MACIR", "equivalent_identifiers": ["NCBIGene:90355", "ENSEMBL:ENSG00000181751", "HGNC:25052", "OMIM:616608", "UMLS:C1824191", "UniProtKB:Q96GV9", "PR:Q96GV9", "ENSEMBL:ENSP00000326110", "ENSEMBL:ENSP00000326110.2", "ENSEMBL:ENSP00000421270", "ENSEMBL:ENSP00000421270.1", "ENSEMBL:ENSP00000422836", "ENSEMBL:ENSP00000422836.1", "UMLS:C3711294", "MESH:C586223"], "information_content": 95.4}
{"id": "UniProtKB:Q13794-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phorbol-12-myristate-13-acetate-induced protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13794-1", "PR:Q13794-1", "ENSEMBL:ENSP00000326119", "ENSEMBL:ENSP00000326119.7"], "information_content": 100.0}
{"id": "NCBIGene:23185", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LARP4B", "equivalent_identifiers": ["NCBIGene:23185", "ENSEMBL:ENSG00000107929", "HGNC:28987", "OMIM:616513", "UMLS:C1825790", "UniProtKB:Q92615", "PR:Q92615", "ENSEMBL:ENSP00000326128", "ENSEMBL:ENSP00000326128.3", "UMLS:C4554237", "UMLS:C5391765", "MESH:C000707167"], "information_content": 95.4}
{"id": "NCBIGene:9622", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLK4", "equivalent_identifiers": ["NCBIGene:9622", "ENSEMBL:ENSG00000167749", "HGNC:6365", "OMIM:603767", "UMLS:C1416675", "UniProtKB:A0A0C4DFQ5", "ENSEMBL:ENSP00000326159", "ENSEMBL:ENSP00000326159.1", "UniProtKB:Q5BQA0", "ENSEMBL:ENSP00000472091", "ENSEMBL:ENSP00000472091.1", "UniProtKB:Q9Y5K2", "PR:Q9Y5K2"]}
{"id": "UniProtKB:Q8WZ73-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase rififylin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WZ73-1", "PR:Q8WZ73-1", "ENSEMBL:ENSP00000326170", "ENSEMBL:ENSP00000326170.7", "ENSEMBL:ENSP00000378096", "ENSEMBL:ENSP00000378096.3", "ENSEMBL:ENSP00000389832", "ENSEMBL:ENSP00000389832.2", "ENSEMBL:ENSP00000412322", "ENSEMBL:ENSP00000412322.2"], "information_content": 100.0}
{"id": "NCBIGene:27107", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB11", "equivalent_identifiers": ["NCBIGene:27107", "ENSEMBL:ENSG00000066422", "HGNC:16740", "OMIM:618181", "UMLS:C1538147", "UniProtKB:O95625", "PR:O95625", "ENSEMBL:ENSP00000326200", "ENSEMBL:ENSP00000326200.4", "UMLS:C5772920", "MESH:C000723673", "UniProtKB:Q59H97"], "information_content": 90.9}
{"id": "NCBIGene:2595", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GANC", "equivalent_identifiers": ["NCBIGene:2595", "ENSEMBL:ENSG00000214013", "HGNC:4139", "OMIM:104180", "UMLS:C1414966", "UniProtKB:B4DWC5", "UniProtKB:E7EWB6", "ENSEMBL:ENSP00000399557", "ENSEMBL:ENSP00000399557.2", "UniProtKB:H3BN99", "ENSEMBL:ENSP00000454747", "ENSEMBL:ENSP00000454747.1", "UniProtKB:Q8TET4", "PR:Q8TET4", "ENSEMBL:ENSP00000326227", "ENSEMBL:ENSP00000326227.8"], "information_content": 95.4}
{"id": "NCBIGene:93661", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAPZA3", "equivalent_identifiers": ["NCBIGene:93661", "ENSEMBL:ENSG00000177938", "HGNC:24205", "OMIM:608722", "UMLS:C1428357", "UniProtKB:A0A140VKF6", "UniProtKB:Q96KX2", "PR:Q96KX2", "ENSEMBL:ENSP00000326238", "ENSEMBL:ENSP00000326238.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9NPC7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myoneurin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPC7-1", "PR:Q9NPC7-1", "ENSEMBL:ENSP00000326240", "ENSEMBL:ENSP00000326240.4", "ENSEMBL:ENSP00000349150", "ENSEMBL:ENSP00000349150.3"], "information_content": 100.0}
{"id": "NCBIGene:256472", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM151A", "equivalent_identifiers": ["NCBIGene:256472", "ENSEMBL:ENSG00000179292", "HGNC:28497", "OMIM:620108", "UMLS:C1823416", "UniProtKB:Q8N4L1", "PR:Q8N4L1", "ENSEMBL:ENSP00000326244", "ENSEMBL:ENSP00000326244.4", "UMLS:C5773177", "MESH:C000723966"], "information_content": 95.4}
{"id": "MONDO:0003563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse pulmonary fibrosis", "equivalent_identifiers": ["MONDO:0003563", "DOID:5641", "UMLS:C0865849", "NCIT:C27216", "medgen:167847"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVG5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sterile alpha motif domain-containing protein 9-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVG5-1", "PR:Q8IVG5-1", "ENSEMBL:ENSP00000326247", "ENSEMBL:ENSP00000326247.4", "ENSEMBL:ENSP00000391387", "ENSEMBL:ENSP00000391387.2", "ENSEMBL:ENSP00000391699", "ENSEMBL:ENSP00000391699.2", "ENSEMBL:ENSP00000396137", "ENSEMBL:ENSP00000396137.2", "ENSEMBL:ENSP00000405760", "ENSEMBL:ENSP00000405760.1", "ENSEMBL:ENSP00000408796", "ENSEMBL:ENSP00000408796.1", "ENSEMBL:ENSP00000410062", "ENSEMBL:ENSP00000410062.2", "ENSEMBL:ENSP00000514494", "ENSEMBL:ENSP00000514494.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSG5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retbindin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSG5-2", "PR:Q9BSG5-2", "ENSEMBL:ENSP00000326253", "ENSEMBL:ENSP00000326253.4"], "information_content": 100.0}
{"id": "MONDO:0016718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "choroid plexus carcinoma", "equivalent_identifiers": ["MONDO:0016718", "DOID:5648", "orphanet:251899", "UMLS:C0431109", "MESH:C562943", "MEDDRA:10002225", "MEDDRA:10067478", "NCIT:C4715", "SNOMEDCT:1156471001", "SNOMEDCT:188292007", "SNOMEDCT:88252006", "medgen:96557", "icd11.foundation:1128449352", "HP:0030392"], "information_content": 88.2}
{"id": "MONDO:0001527", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conjugate gaze palsy", "equivalent_identifiers": ["MONDO:0001527", "DOID:12445", "UMLS:C0702143", "MEDDRA:10033562", "SNOMEDCT:1534008", "medgen:675273", "ICD9:378.81"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYB3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/arginine repetitive matrix protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYB3-1", "PR:Q8IYB3-1", "ENSEMBL:ENSP00000326261", "ENSEMBL:ENSP00000326261.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EF-hand calcium-binding domain-containing protein 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUY7-1", "PR:Q9BUY7-1", "ENSEMBL:ENSP00000326267", "ENSEMBL:ENSP00000326267.7"], "information_content": 100.0}
{"id": "NCBIGene:2300", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXL1", "equivalent_identifiers": ["NCBIGene:2300", "ENSEMBL:ENSG00000176678", "HGNC:3817", "OMIM:603252", "UMLS:C1414684", "UniProtKB:Q12952", "PR:Q12952", "ENSEMBL:ENSP00000326272", "ENSEMBL:ENSP00000326272.3", "UMLS:C1452226", "MESH:C491001", "UniProtKB:Q498Y4"], "information_content": 100.0}
{"id": "NCBIGene:81469", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2G3", "equivalent_identifiers": ["NCBIGene:81469", "ENSEMBL:ENSG00000177476", "HGNC:15008", "UMLS:C1423131", "UniProtKB:A0A126GVX0", "UniProtKB:Q8NGZ4", "PR:Q8NGZ4", "ENSEMBL:ENSP00000326301", "ENSEMBL:ENSP00000326301.2"], "information_content": 100.0}
{"id": "MONDO:0002960", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "polyradiculopathy", "equivalent_identifiers": ["MONDO:0002960", "DOID:4307", "UMLS:C0032586", "MESH:D011128", "MEDDRA:10036140", "NCIT:C34934", "SNOMEDCT:75572007", "medgen:46011"], "information_content": 100.0}
{"id": "NCBIGene:788", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A20", "equivalent_identifiers": ["NCBIGene:788", "ENSEMBL:ENSG00000178537", "HGNC:1421", "OMIM:613698", "UMLS:C1413076", "UniProtKB:O43772", "PR:O43772", "ENSEMBL:ENSP00000326305", "ENSEMBL:ENSP00000326305.4", "UMLS:C1436655", "MESH:C120109"], "information_content": 92.8}
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{"id": "NCBIGene:245937", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFB124", "equivalent_identifiers": ["NCBIGene:245937", "ENSEMBL:ENSG00000180383", "HGNC:18104", "UMLS:C1425311", "UniProtKB:Q8NES8", "PR:Q8NES8", "ENSEMBL:ENSP00000326309", "ENSEMBL:ENSP00000326309.2"], "information_content": 100.0}
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{"id": "MONDO:0000257", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute diarrhea", "equivalent_identifiers": ["MONDO:0000257", "DOID:0050140", "UMLS:C0740441", "MEDDRA:10000706", "MEDDRA:10055955", "SNOMEDCT:409966000", "medgen:677005"], "information_content": 64.3}
{"id": "NCBIGene:9884", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC37A", "equivalent_identifiers": ["NCBIGene:9884", "ENSEMBL:ENSG00000176681", "HGNC:29069", "OMIM:616555", "UMLS:C1537612", "UniProtKB:A0A0G2JQV0", "ENSEMBL:ENSP00000486192", "ENSEMBL:ENSP00000486192.1", "UniProtKB:A6NMS7", "PR:A6NMS7", "ENSEMBL:ENSP00000326324", "ENSEMBL:ENSP00000326324.5", "UniProtKB:E9PP10", "ENSEMBL:ENSP00000437021", "ENSEMBL:ENSP00000437021.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NAA4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Atg16l2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NAA4-1", "PR:Q8NAA4-1", "ENSEMBL:ENSP00000326340", "ENSEMBL:ENSP00000326340.5"], "information_content": 100.0}
{"id": "NCBIGene:255520", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELMOD2", "equivalent_identifiers": ["NCBIGene:255520", "ENSEMBL:ENSG00000179387", "HGNC:28111", "OMIM:610196", "UMLS:C1539354", "UniProtKB:Q8IZ81", "PR:Q8IZ81", "ENSEMBL:ENSP00000326342", "ENSEMBL:ENSP00000326342.3", "UMLS:C1741697", "MESH:C512339"], "information_content": 92.8}
{"id": "UniProtKB:P49768-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "presenilin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49768-1", "PR:P49768-1", "ENSEMBL:ENSP00000326366", "ENSEMBL:ENSP00000326366.5", "ENSEMBL:ENSP00000451915", "ENSEMBL:ENSP00000451915.2", "ENSEMBL:ENSP00000514903", "ENSEMBL:ENSP00000514903.1", "ENSEMBL:ENSP00000514904", "ENSEMBL:ENSP00000514904.1", "ENSEMBL:ENSP00000514905", "ENSEMBL:ENSP00000514905.1", "ENSEMBL:ENSP00000514933", "ENSEMBL:ENSP00000514933.1", "ENSEMBL:ENSP00000514944", "ENSEMBL:ENSP00000514944.1", "ENSEMBL:ENSP00000514948", "ENSEMBL:ENSP00000514948.1", "ENSEMBL:ENSP00000514950", "ENSEMBL:ENSP00000514950.1", "ENSEMBL:ENSP00000514966", "ENSEMBL:ENSP00000514966.1", "ENSEMBL:ENSP00000514968", "ENSEMBL:ENSP00000514968.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14240-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic initiation factor 4A-II isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14240-1", "PR:Q14240-1", "ENSEMBL:ENSP00000326381", "ENSEMBL:ENSP00000326381.5"], "information_content": 95.4}
{"id": "NCBIGene:51267", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLEC1A", "equivalent_identifiers": ["NCBIGene:51267", "ENSEMBL:ENSG00000150048", "HGNC:24355", "OMIM:606782", "UMLS:C1539085", "UniProtKB:B3KRP6", "UniProtKB:B4DV89", "UniProtKB:E7ESV9", "ENSEMBL:ENSP00000417010", "ENSEMBL:ENSP00000417010.2", "UniProtKB:E9PFB4", "ENSEMBL:ENSP00000415048", "ENSEMBL:ENSP00000415048.2", "UniProtKB:Q8NC01", "PR:Q8NC01", "ENSEMBL:ENSP00000326407", "ENSEMBL:ENSP00000326407.4"], "information_content": 89.4}
{"id": "UniProtKB:Q69YN2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CWF19-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q69YN2-1", "PR:Q69YN2-1", "ENSEMBL:ENSP00000326411", "ENSEMBL:ENSP00000326411.6"], "information_content": 100.0}
{"id": "MONDO:0014940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset", "equivalent_identifiers": ["MONDO:0014940", "DOID:0081364", "OMIM:617145", "UMLS:C4310693", "medgen:934660"], "information_content": 100.0}
{"id": "UniProtKB:Q6IA69-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamine-dependent NAD(+) synthetase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IA69-1", "PR:Q6IA69-1", "ENSEMBL:ENSP00000326424", "ENSEMBL:ENSP00000326424.2"], "information_content": 100.0}
{"id": "UniProtKB:P51685-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-C chemokine receptor type 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51685-1", "PR:P51685-1", "ENSEMBL:ENSP00000326432", "ENSEMBL:ENSP00000326432.4"], "information_content": 100.0}
{"id": "NCBIGene:152573", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SHISA3", "equivalent_identifiers": ["NCBIGene:152573", "ENSEMBL:ENSG00000178343", "HGNC:25159", "OMIM:617325", "UMLS:C2680378", "UniProtKB:A0PJX4", "PR:A0PJX4", "ENSEMBL:ENSP00000326445", "ENSEMBL:ENSP00000326445.4", "UMLS:C5226383", "MESH:C000655132"], "information_content": 100.0}
{"id": "UniProtKB:Q96SE0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ABHD1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96SE0-1", "PR:Q96SE0-1", "ENSEMBL:ENSP00000326491", "ENSEMBL:ENSP00000326491.4"], "information_content": 100.0}
{"id": "NCBIGene:79447", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAGR1", "equivalent_identifiers": ["NCBIGene:79447", "ENSEMBL:ENSG00000280789", "HGNC:28707", "OMIM:612033", "UMLS:C1540252", "UniProtKB:Q9BTK6", "PR:Q9BTK6", "ENSEMBL:ENSP00000326519", "ENSEMBL:ENSP00000326519.6", "UMLS:C2713773", "UMLS:C3814458", "MESH:C535048"], "information_content": 100.0}
{"id": "UniProtKB:Q86W42-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "THO complex subunit 6 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86W42-1", "PR:Q86W42-1", "ENSEMBL:ENSP00000326531", "ENSEMBL:ENSP00000326531.8"], "information_content": 100.0}
{"id": "NCBIGene:10460", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TACC3", "equivalent_identifiers": ["NCBIGene:10460", "ENSEMBL:ENSG00000013810", "HGNC:11524", "OMIM:605303", "UMLS:C1336558", "UniProtKB:A0A087WUE2", "ENSEMBL:ENSP00000478580", "ENSEMBL:ENSP00000478580.2", "UniProtKB:Q9Y6A5", "PR:Q9Y6A5", "ENSEMBL:ENSP00000326550", "ENSEMBL:ENSP00000326550.4", "ENSEMBL:ENSP00000498361", "ENSEMBL:ENSP00000498361.1", "UMLS:C1309183", "UMLS:C1336803", "MESH:C120551"], "information_content": 79.9}
{"id": "UniProtKB:Q7LBC6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7LBC6-1", "PR:Q7LBC6-1", "ENSEMBL:ENSP00000326563", "ENSEMBL:ENSP00000326563.5"], "information_content": 100.0}
{"id": "NCBIGene:79147", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FKRP", "equivalent_identifiers": ["NCBIGene:79147", "ENSEMBL:ENSG00000181027", "HGNC:17997", "OMIM:606596", "UMLS:C1425226", "UniProtKB:Q9H9S5", "PR:Q9H9S5", "ENSEMBL:ENSP00000326570", "ENSEMBL:ENSP00000326570.4", "ENSEMBL:ENSP00000375776", "ENSEMBL:ENSP00000375776.2", "UMLS:C1448221", "MESH:C443107"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZU2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paternally-expressed gene 3 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZU2-1", "PR:Q9GZU2-1", "ENSEMBL:ENSP00000326581", "ENSEMBL:ENSP00000326581.7", "ENSEMBL:ENSP00000469486", "ENSEMBL:ENSP00000469486.1", "ENSEMBL:ENSP00000472395", "ENSEMBL:ENSP00000472395.1"], "information_content": 100.0}
{"id": "NCBIGene:29122", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS50", "equivalent_identifiers": ["NCBIGene:29122", "ENSEMBL:ENSG00000283706", "HGNC:17910", "OMIM:607950", "UMLS:C1842761", "UniProtKB:A0A140VJY3", "UniProtKB:Q9UI38", "PR:Q9UI38", "ENSEMBL:ENSP00000326598", "ENSEMBL:ENSP00000326598.7"], "information_content": 95.4}
{"id": "UniProtKB:A6NHR9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "structural maintenance of chromosomes flexible hinge domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NHR9-1", "PR:A6NHR9-1", "ENSEMBL:ENSP00000326603", "ENSEMBL:ENSP00000326603.7"], "information_content": 100.0}
{"id": "MONDO:0007953", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Binder syndrome", "equivalent_identifiers": ["MONDO:0007953", "DOID:14683", "OMIM:155050", "orphanet:1248", "UMLS:C0220692", "MESH:C536036", "MEDDRA:10075843", "MEDDRA:10075844", "SNOMEDCT:715985008", "medgen:66318"], "information_content": 100.0}
{"id": "UniProtKB:Q8WVP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "limb region 1 protein homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVP7-1", "PR:Q8WVP7-1", "ENSEMBL:ENSP00000326604", "ENSEMBL:ENSP00000326604.7"], "information_content": 100.0}
{"id": "NCBIGene:161882", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFPM1", "equivalent_identifiers": ["NCBIGene:161882", "ENSEMBL:ENSG00000179588", "HGNC:19762", "OMIM:601950", "UMLS:C1426391", "UniProtKB:Q8IX07", "PR:Q8IX07", "ENSEMBL:ENSP00000326630", "ENSEMBL:ENSP00000326630.2", "UMLS:C1506431", "UMLS:C2827368", "MESH:C498432"], "information_content": 95.4}
{"id": "UniProtKB:Q92902-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BLOC-3 complex member HPS1 isoform I (human)", "equivalent_identifiers": ["UniProtKB:Q92902-1", "PR:Q92902-1", "ENSEMBL:ENSP00000326649", "ENSEMBL:ENSP00000326649.6", "ENSEMBL:ENSP00000355310", "ENSEMBL:ENSP00000355310.4", "ENSEMBL:ENSP00000514159", "ENSEMBL:ENSP00000514159.1", "ENSEMBL:ENSP00000514162", "ENSEMBL:ENSP00000514162.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96KD3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi-associated RAB2 interactor protein 1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96KD3-1", "PR:Q96KD3-1", "ENSEMBL:ENSP00000326652", "ENSEMBL:ENSP00000326652.4"], "information_content": 100.0}
{"id": "UniProtKB:Q86VL8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multidrug and toxin extrusion protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VL8-1", "PR:Q86VL8-1", "ENSEMBL:ENSP00000326671", "ENSEMBL:ENSP00000326671.5"], "information_content": 100.0}
{"id": "NCBIGene:284439", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A42", "equivalent_identifiers": ["NCBIGene:284439", "ENSEMBL:ENSG00000181035", "HGNC:28380", "OMIM:610823", "UMLS:C1822751", "UniProtKB:Q86VD7", "PR:Q86VD7", "ENSEMBL:ENSP00000326693", "ENSEMBL:ENSP00000326693.6", "UMLS:C2743863", "MESH:C544398", "UniProtKB:Q8NHH2"], "information_content": 95.4}
{"id": "UniProtKB:Q7RTY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ovochymase-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTY7-1", "PR:Q7RTY7-1", "ENSEMBL:ENSP00000326708", "ENSEMBL:ENSP00000326708.5"], "information_content": 100.0}
{"id": "MONDO:0000707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diversion colitis", "equivalent_identifiers": ["MONDO:0000707", "DOID:0060187", "UMLS:C0267532", "MEDDRA:10084068", "SNOMEDCT:51290000", "medgen:540758", "icd11.foundation:553304993"], "information_content": 100.0}
{"id": "UniProtKB:Q9NP84-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 12A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP84-1", "PR:Q9NP84-1", "ENSEMBL:ENSP00000326737", "ENSEMBL:ENSP00000326737.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXM1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeats and immunoglobulin-like domains protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXM1-1", "PR:Q6UXM1-1", "ENSEMBL:ENSP00000326759", "ENSEMBL:ENSP00000326759.3"], "information_content": 100.0}
{"id": "MONDO:0015867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vaginal carcinoma", "equivalent_identifiers": ["MONDO:0015867", "DOID:0050918", "orphanet:180247", "UMLS:C0262659", "NCIT:C3917", "SNOMEDCT:254893005", "medgen:82653"], "information_content": 72.7}
{"id": "UniProtKB:Q71SY5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 25 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q71SY5-1", "PR:Q71SY5-1", "ENSEMBL:ENSP00000326767", "ENSEMBL:ENSP00000326767.5"], "information_content": 100.0}
{"id": "MONDO:0011570", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2B2", "equivalent_identifiers": ["MONDO:0011570", "DOID:0110179", "OMIM:605589", "orphanet:101101", "UMLS:C1854150", "MESH:C537991", "SNOMEDCT:719981005", "medgen:381352", "icd11.foundation:2009111705"], "information_content": 100.0}
{"id": "MONDO:0011889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2I", "equivalent_identifiers": ["MONDO:0011889", "DOID:0110158", "OMIM:607677", "orphanet:99942", "UMLS:C3888087", "MESH:C535416", "SNOMEDCT:717013009", "medgen:854756", "icd11.foundation:1858507973"], "information_content": 100.0}
{"id": "MONDO:0020340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral perisylvian polymicrogyria", "equivalent_identifiers": ["MONDO:0020340", "DOID:0080924", "orphanet:98889", "UMLS:C1845668", "MESH:C536658", "MEDDRA:10082716", "medgen:337000", "icd11.foundation:1882677643", "HP:0032407"], "information_content": 87.2}
{"id": "MONDO:0007790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 3", "equivalent_identifiers": ["MONDO:0007790", "DOID:0050540", "OMIM:145900", "orphanet:64748", "UMLS:C0011195", "NCIT:C133087", "SNOMEDCT:111499002", "medgen:3710"], "information_content": 100.0}
{"id": "NCBIGene:8454", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CUL1", "equivalent_identifiers": ["NCBIGene:8454", "ENSEMBL:ENSG00000055130", "HGNC:2551", "OMIM:603134", "UMLS:C1332809", "UniProtKB:A0A090N7U0", "UniProtKB:B3KTW0", "UniProtKB:Q13616", "PR:Q13616", "ENSEMBL:ENSP00000326804", "ENSEMBL:ENSP00000326804.3", "ENSEMBL:ENSP00000387160", "ENSEMBL:ENSP00000387160.1", "ENSEMBL:ENSP00000473318", "ENSEMBL:ENSP00000473318.1", "ENSEMBL:ENSP00000499255", "ENSEMBL:ENSP00000499255.1", "ENSEMBL:ENSP00000499277", "ENSEMBL:ENSP00000499277.1", "ENSEMBL:ENSP00000499398", "ENSEMBL:ENSP00000499398.1", "UMLS:C0755299"], "information_content": 88.2}
{"id": "UniProtKB:P52298-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear cap-binding protein subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P52298-1", "PR:P52298-1", "ENSEMBL:ENSP00000326806", "ENSEMBL:ENSP00000326806.5"], "information_content": 100.0}
{"id": "UniProtKB:Q5VVQ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin thioesterase OTU1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VVQ6-1", "PR:Q5VVQ6-1", "ENSEMBL:ENSP00000326813", "ENSEMBL:ENSP00000326813.4"], "information_content": 100.0}
{"id": "NCBIGene:122525", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DORIP1", "equivalent_identifiers": ["NCBIGene:122525", "ENSEMBL:ENSG00000179476", "HGNC:19834", "UMLS:C1426461", "UniProtKB:Q4W4Y0", "PR:Q4W4Y0", "ENSEMBL:ENSP00000326846", "ENSEMBL:ENSP00000326846.3", "UMLS:C4743080", "MESH:C000627926"], "information_content": 100.0}
{"id": "UniProtKB:Q5TFE4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5'-nucleotidase domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TFE4-1", "PR:Q5TFE4-1", "ENSEMBL:ENSP00000326858", "ENSEMBL:ENSP00000326858.3"], "information_content": 100.0}
{"id": "MONDO:0030054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 86", "equivalent_identifiers": ["MONDO:0030054", "DOID:0112220", "OMIM:618910", "UMLS:C5394462", "medgen:1711964"], "information_content": 100.0}
{"id": "NCBIGene:94101", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ORMDL1", "equivalent_identifiers": ["NCBIGene:94101", "ENSEMBL:ENSG00000128699", "HGNC:16036", "OMIM:610073", "UMLS:C1423928", "UniProtKB:Q9P0S3", "PR:Q9P0S3", "ENSEMBL:ENSP00000326869", "ENSEMBL:ENSP00000326869.3", "ENSEMBL:ENSP00000376160", "ENSEMBL:ENSP00000376160.4", "ENSEMBL:ENSP00000376161", "ENSEMBL:ENSP00000376161.3", "UMLS:C1142833", "MESH:C464259"], "information_content": 92.8}
{"id": "UniProtKB:Q7Z4I7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM and senescent cell antigen-like-containing domain protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4I7-2", "PR:Q7Z4I7-2", "ENSEMBL:ENSP00000326888", "ENSEMBL:ENSP00000326888.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UET6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UET6-1", "PR:Q9UET6-1", "ENSEMBL:ENSP00000326948", "ENSEMBL:ENSP00000326948.2"], "information_content": 100.0}
{"id": "MONDO:0032815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 17", "equivalent_identifiers": ["MONDO:0032815", "DOID:0070448", "OMIM:618567", "UMLS:C5231412", "medgen:1684823"], "information_content": 100.0}
{"id": "NCBIGene:55272", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IMP3", "equivalent_identifiers": ["NCBIGene:55272", "ENSEMBL:ENSG00000177971", "HGNC:14497", "OMIM:612980", "UMLS:C1825597", "UniProtKB:Q9NV31", "PR:Q9NV31", "ENSEMBL:ENSP00000326981", "ENSEMBL:ENSP00000326981.2", "ENSEMBL:ENSP00000385217", "ENSEMBL:ENSP00000385217.1", "UMLS:C3889627", "UMLS:C4760590", "MESH:C000632406"], "information_content": 95.4}
{"id": "MONDO:0006579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melanoacanthoma", "equivalent_identifiers": ["MONDO:0006579", "DOID:11684", "EFO:1000733", "UMLS:C1321683", "NCIT:C27548", "SNOMEDCT:394727000", "medgen:272110"], "information_content": 100.0}
{"id": "MONDO:0007446", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatosis papulosa nigra", "equivalent_identifiers": ["MONDO:0007446", "DOID:4400", "OMIM:125600", "EFO:1000686", "UMLS:C0011645", "MESH:C562379", "MEDDRA:10057063", "NCIT:C2984", "SNOMEDCT:103672009", "SNOMEDCT:254669003", "medgen:4238", "icd11.foundation:168986957", "ICD10:L82"], "information_content": 100.0}
{"id": "MONDO:0003727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "animal phobia", "equivalent_identifiers": ["MONDO:0003727", "DOID:600", "EFO:1001876", "UMLS:C0233711", "MESH:C000719220", "MEDDRA:10002518", "MEDDRA:10016276", "NCIT:C35273", "SNOMEDCT:247848003", "SNOMEDCT:54307006", "medgen:65440"], "information_content": 100.0}
{"id": "UniProtKB:P51449-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor ROR-gamma isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P51449-1", "PR:P51449-1", "ENSEMBL:ENSP00000327025", "ENSEMBL:ENSP00000327025.6"], "information_content": 100.0}
{"id": "UniProtKB:O75444-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor Maf isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75444-1", "PR:O75444-1", "ENSEMBL:ENSP00000327048", "ENSEMBL:ENSP00000327048.4"], "information_content": 100.0}
{"id": "MONDO:0008152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multicentric carpo-tarsal osteolysis with or without nephropathy", "equivalent_identifiers": ["MONDO:0008152", "DOID:0111534", "OMIM:166300", "orphanet:2774", "UMLS:C2674705", "MESH:C567171", "NCIT:C178416", "SNOMEDCT:766992008", "medgen:436237"], "information_content": 100.0}
{"id": "NCBIGene:84823", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LMNB2", "equivalent_identifiers": ["NCBIGene:84823", "ENSEMBL:ENSG00000176619", "HGNC:6638", "OMIM:150341", "UMLS:C1416878", "UniProtKB:Q03252", "PR:Q03252", "ENSEMBL:ENSP00000327054", "ENSEMBL:ENSP00000327054.3", "UMLS:C1743048", "MESH:C000727940"], "information_content": 90.9}
{"id": "UniProtKB:P40926-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "malate dehydrogenase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P40926-1", "PR:P40926-1", "ENSEMBL:ENSP00000327070", "ENSEMBL:ENSP00000327070.5"], "information_content": 100.0}
{"id": "UniProtKB:Q15154-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pericentriolar material 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15154-1", "PR:Q15154-1", "ENSEMBL:ENSP00000327077", "ENSEMBL:ENSP00000327077.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZN3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EH domain-containing protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZN3-1", "PR:Q9NZN3-1", "ENSEMBL:ENSP00000327116", "ENSEMBL:ENSP00000327116.5"], "information_content": 100.0}
{"id": "UniProtKB:Q14315-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "filamin-C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14315-1", "PR:Q14315-1", "ENSEMBL:ENSP00000327145", "ENSEMBL:ENSP00000327145.8"], "information_content": 100.0}
{"id": "UniProtKB:Q8TB68-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TB68-1", "PR:Q8TB68-1", "ENSEMBL:ENSP00000327168", "ENSEMBL:ENSP00000327168.3", "ENSEMBL:ENSP00000420872", "ENSEMBL:ENSP00000420872.1", "ENSEMBL:ENSP00000421039", "ENSEMBL:ENSP00000421039.1"], "information_content": 100.0}
{"id": "UniProtKB:Q969X6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U3 small nucleolar RNA-associated protein 4 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969X6-1", "PR:Q969X6-1", "ENSEMBL:ENSP00000327179", "ENSEMBL:ENSP00000327179.7"], "information_content": 100.0}
{"id": "MONDO:0054727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 23", "equivalent_identifiers": ["MONDO:0054727", "DOID:0070181", "OMIM:617707", "UMLS:C4540185", "medgen:1626589"], "information_content": 100.0}
{"id": "MONDO:0054729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 25", "equivalent_identifiers": ["MONDO:0054729", "DOID:0111920", "OMIM:617960", "UMLS:C4693765", "medgen:1646677"], "information_content": 100.0}
{"id": "UniProtKB:Q92526-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-complex protein 1 subunit zeta-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92526-1", "PR:Q92526-1", "ENSEMBL:ENSP00000327191", "ENSEMBL:ENSP00000327191.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96HI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sentrin-specific protease 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HI0-1", "PR:Q96HI0-1", "ENSEMBL:ENSP00000327197", "ENSEMBL:ENSP00000327197.5"], "information_content": 100.0}
{"id": "NCBIGene:8204", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NRIP1", "equivalent_identifiers": ["NCBIGene:8204", "ENSEMBL:ENSG00000180530", "HGNC:8001", "OMIM:602490", "UMLS:C1334904", "UniProtKB:A8K171", "UniProtKB:P48552", "PR:P48552", "ENSEMBL:ENSP00000327213", "ENSEMBL:ENSP00000327213.4", "ENSEMBL:ENSP00000383060", "ENSEMBL:ENSP00000383060.1", "ENSEMBL:ENSP00000383063", "ENSEMBL:ENSP00000383063.1", "UMLS:C4742231", "MESH:C000627127"], "information_content": 89.4}
{"id": "UniProtKB:Q9NQ11-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyamine-transporting ATPase 13A2 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ11-1", "PR:Q9NQ11-1", "ENSEMBL:ENSP00000327214", "ENSEMBL:ENSP00000327214.8"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6Q1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane and coiled-coil domain-containing protein 5A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6Q1-1", "PR:Q8N6Q1-1", "ENSEMBL:ENSP00000327234", "ENSEMBL:ENSP00000327234.4"], "information_content": 100.0}
{"id": "UniProtKB:P32241-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vasoactive intestinal polypeptide receptor 1 isoform Short (human)", "equivalent_identifiers": ["UniProtKB:P32241-1", "PR:P32241-1", "ENSEMBL:ENSP00000327246", "ENSEMBL:ENSP00000327246.4"], "information_content": 100.0}
{"id": "UniProtKB:P35228-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nitric oxide synthase, inducible isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35228-1", "PR:P35228-1", "ENSEMBL:ENSP00000327251", "ENSEMBL:ENSP00000327251.6"], "information_content": 100.0}
{"id": "UniProtKB:P35813-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P35813-3", "PR:P35813-3", "ENSEMBL:ENSP00000327255", "ENSEMBL:ENSP00000327255.3"], "information_content": 100.0}
{"id": "NCBIGene:4729", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFV2", "equivalent_identifiers": ["NCBIGene:4729", "ENSEMBL:ENSG00000178127", "HGNC:7717", "OMIM:600532", "UMLS:C1417653", "UniProtKB:P19404", "PR:P19404", "ENSEMBL:ENSP00000327268", "ENSEMBL:ENSP00000327268.6", "UMLS:C1528061", "MESH:C492562"], "information_content": 92.8}
{"id": "UniProtKB:Q9UKX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin alpha-11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKX5-1", "PR:Q9UKX5-1", "ENSEMBL:ENSP00000327290", "ENSEMBL:ENSP00000327290.7"], "information_content": 100.0}
{"id": "UniProtKB:Q86YJ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "threonine synthase-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YJ6-1", "PR:Q86YJ6-1", "ENSEMBL:ENSP00000327323", "ENSEMBL:ENSP00000327323.5", "ENSEMBL:ENSP00000501453", "ENSEMBL:ENSP00000501453.1"], "information_content": 100.0}
{"id": "NCBIGene:633", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BGN", "equivalent_identifiers": ["NCBIGene:633", "ENSEMBL:ENSG00000182492", "HGNC:1044", "OMIM:301870", "UMLS:C1412792", "UniProtKB:B4DNL4", "UniProtKB:P21810", "PR:P21810", "ENSEMBL:ENSP00000327336", "ENSEMBL:ENSP00000327336.4", "UMLS:C1620161", "MESH:C546884"], "information_content": 78.5}
{"id": "NCBIGene:1300", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL10A1", "equivalent_identifiers": ["NCBIGene:1300", "ENSEMBL:ENSG00000123500", "HGNC:2185", "OMIM:120110", "UMLS:C1413569", "UniProtKB:A0A650AXN9", "UMLS:C5226241", "MESH:C000655285", "UniProtKB:Q03692", "PR:Q03692", "ENSEMBL:ENSP00000243222", "ENSEMBL:ENSP00000243222.4", "ENSEMBL:ENSP00000327368", "ENSEMBL:ENSP00000327368.4", "ENSEMBL:ENSP00000498802", "ENSEMBL:ENSP00000498802.1"], "information_content": 84.2}
{"id": "NCBIGene:2863", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR39", "equivalent_identifiers": ["NCBIGene:2863", "ENSEMBL:ENSG00000183840", "HGNC:4496", "OMIM:602886", "UMLS:C1333694", "UniProtKB:O43194", "PR:O43194", "ENSEMBL:ENSP00000327417", "ENSEMBL:ENSP00000327417.3", "UMLS:C1333733", "MESH:C495797"], "information_content": 100.0}
{"id": "NCBIGene:3047", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HBG1", "equivalent_identifiers": ["NCBIGene:3047", "ENSEMBL:ENSG00000213934", "HGNC:4831", "OMIM:142200", "UMLS:C1415485", "UniProtKB:D9YZU8", "UniProtKB:P69891", "PR:P69891", "ENSEMBL:ENSP00000327431", "ENSEMBL:ENSP00000327431.4", "UMLS:C2827574"], "information_content": 95.4}
{"id": "UniProtKB:Q86TU7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin-histidine N-methyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86TU7-1", "PR:Q86TU7-1", "ENSEMBL:ENSP00000327436", "ENSEMBL:ENSP00000327436.5"], "information_content": 100.0}
{"id": "NCBIGene:353500", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BMP8A", "equivalent_identifiers": ["NCBIGene:353500", "ENSEMBL:ENSG00000183682", "HGNC:21650", "OMIM:620847", "UMLS:C1427673", "UniProtKB:Q7Z5Y6", "PR:Q7Z5Y6", "ENSEMBL:ENSP00000327440", "ENSEMBL:ENSP00000327440.5", "UMLS:C1436827", "MESH:C485773"], "information_content": 95.4}
{"id": "MONDO:0002317", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dizziness", "equivalent_identifiers": ["MONDO:0002317", "DOID:2479", "EFO:0009847", "UMLS:C0012833", "UMLS:C0042571", "UMLS:C0155503", "UMLS:C0476206", "MESH:D004244", "MESH:D014717", "MEDDRA:10013573", "MEDDRA:10013580", "MEDDRA:10019201", "MEDDRA:10019202", "MEDDRA:10019203", "MEDDRA:10041619", "MEDDRA:10047340", "MEDDRA:10047343", "MEDDRA:10047347", "MEDDRA:10047349", "MEDDRA:10048019", "MEDDRA:10058708", "NCIT:C37943", "NCIT:C38057", "SNOMEDCT:271789005", "SNOMEDCT:38403006", "SNOMEDCT:399090003", "SNOMEDCT:399153001", "SNOMEDCT:404640003", "medgen:56365", "ICD10:H81.4", "ICD9:386.2", "HP:0002321"], "information_content": 65.3}
{"id": "UniProtKB:Q9UH17-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA dC->dU-editing enzyme APOBEC-3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UH17-1", "PR:Q9UH17-1", "ENSEMBL:ENSP00000327459", "ENSEMBL:ENSP00000327459.3"], "information_content": 100.0}
{"id": "NCBIGene:91689", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMDT1", "equivalent_identifiers": ["NCBIGene:91689", "ENSEMBL:ENSG00000183172", "HGNC:25055", "OMIM:615588", "UMLS:C1824513", "UniProtKB:Q9H4I9", "PR:Q9H4I9", "ENSEMBL:ENSP00000327467", "ENSEMBL:ENSP00000327467.3", "ENSEMBL:ENSP00000459368", "ENSEMBL:ENSP00000459368.1", "ENSEMBL:ENSP00000475471", "ENSEMBL:ENSP00000475471.1", "ENSEMBL:ENSP00000485029", "ENSEMBL:ENSP00000485029.1", "UMLS:C3710630", "MESH:C585180"], "information_content": 95.4}
{"id": "NCBIGene:200942", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHDC8B", "equivalent_identifiers": ["NCBIGene:200942", "ENSEMBL:ENSG00000185909", "HGNC:28557", "OMIM:613169", "UMLS:C1825723", "UniProtKB:Q8IXV7", "PR:Q8IXV7", "ENSEMBL:ENSP00000327468", "ENSEMBL:ENSP00000327468.2", "UMLS:C2934326", "MESH:C549813", "UniProtKB:Q96DZ8"], "information_content": 95.4}
{"id": "MONDO:0004952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hodgkin Disease", "equivalent_identifiers": ["MONDO:0004952", "DOID:8567", "orphanet:98293", "EFO:0000183", "MESH:D006689", "NCIT:C9357", "icd11.foundation:1528863768", "ICD10:C81", "ICD9:201"], "information_content": 64.7}
{"id": "MONDO:0005710", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "composite lymphoma", "equivalent_identifiers": ["MONDO:0005710", "DOID:5820", "orphanet:168966", "EFO:0007215", "UMLS:C0545080", "UMLS:C1266191", "MESH:D058617", "MEDDRA:10073957", "NCIT:C38661", "SNOMEDCT:1156403002", "SNOMEDCT:128798004", "medgen:107468"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6J9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA-splicing endonuclease subunit Sen54 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6J9-1", "PR:Q7Z6J9-1", "ENSEMBL:ENSP00000327487", "ENSEMBL:ENSP00000327487.6"], "information_content": 100.0}
{"id": "NCBIGene:283897", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C16orf54", "equivalent_identifiers": ["NCBIGene:283897", "ENSEMBL:ENSG00000185905", "HGNC:26649", "UMLS:C1540253", "UniProtKB:Q6UWD8", "PR:Q6UWD8", "ENSEMBL:ENSP00000327506", "ENSEMBL:ENSP00000327506.3", "UMLS:C5771915", "MESH:C000726061"], "information_content": 95.4}
{"id": "UniProtKB:P09603-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "macrophage colony-stimulating factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P09603-1", "PR:P09603-1", "ENSEMBL:ENSP00000327513", "ENSEMBL:ENSP00000327513.6", "ENSEMBL:ENSP00000358817", "ENSEMBL:ENSP00000358817.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86SG7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysozyme g-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86SG7-1", "PR:Q86SG7-1", "ENSEMBL:ENSP00000327533", "ENSEMBL:ENSP00000327533.2", "ENSEMBL:ENSP00000386939", "ENSEMBL:ENSP00000386939.1"], "information_content": 100.0}
{"id": "NCBIGene:23467", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPTXR", "equivalent_identifiers": ["NCBIGene:23467", "ENSEMBL:ENSG00000221890", "HGNC:7954", "OMIM:609474", "UMLS:C1417814", "UniProtKB:O95502", "PR:O95502", "ENSEMBL:ENSP00000327545", "ENSEMBL:ENSP00000327545.3", "UMLS:C1455027"], "information_content": 90.9}
{"id": "NCBIGene:390928", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACP7", "equivalent_identifiers": ["NCBIGene:390928", "ENSEMBL:ENSG00000183760", "HGNC:33781", "OMIM:610490", "UMLS:C1864845", "UniProtKB:M0R045", "ENSEMBL:ENSP00000470989", "ENSEMBL:ENSP00000470989.1", "UniProtKB:Q6ZNF0", "PR:Q6ZNF0", "ENSEMBL:ENSP00000327557", "ENSEMBL:ENSP00000327557.4"], "information_content": 95.4}
{"id": "MONDO:0007508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rapp-Hodgkin syndrome", "equivalent_identifiers": ["MONDO:0007508", "DOID:0060330", "OMIM:129400", "UMLS:C1706004", "UMLS:C1785148", "MESH:C535289", "SNOMEDCT:7731005", "medgen:315656", "icd11.foundation:1455333054", "HP:0007476"], "information_content": 100.0}
{"id": "NCBIGene:2747", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLUD2", "equivalent_identifiers": ["NCBIGene:2747", "ENSEMBL:ENSG00000182890", "HGNC:4336", "OMIM:300144", "UMLS:C1415114", "UniProtKB:A0A140VK14", "UniProtKB:P49448", "PR:P49448", "ENSEMBL:ENSP00000327589", "ENSEMBL:ENSP00000327589.1", "ENSEMBL:ENSP00000500546", "ENSEMBL:ENSP00000500546.1", "UMLS:C1958407", "MESH:C521120"], "information_content": 90.9}
{"id": "NCBIGene:339390", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLEC4G", "equivalent_identifiers": ["NCBIGene:339390", "ENSEMBL:ENSG00000182566", "HGNC:24591", "OMIM:616256", "UMLS:C1539098", "UniProtKB:B7ZKQ2", "UniProtKB:Q08G24", "UniProtKB:Q6UXB4", "PR:Q6UXB4", "ENSEMBL:ENSP00000327599", "ENSEMBL:ENSP00000327599.4", "UMLS:C1622713", "MESH:C505228", "UniProtKB:Q6XYD1"], "information_content": 84.2}
{"id": "NCBIGene:339366", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAMTSL5", "equivalent_identifiers": ["NCBIGene:339366", "ENSEMBL:ENSG00000185761", "HGNC:27912", "UMLS:C1826408", "UniProtKB:A4QPG6", "UniProtKB:Q0VD77", "ENSEMBL:ENSP00000378850", "ENSEMBL:ENSP00000378850.2", "UMLS:C3657494", "MESH:C581035", "UniProtKB:Q6ZMM2", "PR:Q6ZMM2", "UniProtKB:X6R4H8", "ENSEMBL:ENSP00000327608", "ENSEMBL:ENSP00000327608.3"]}
{"id": "MONDO:0010402", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability 94", "equivalent_identifiers": ["MONDO:0010402", "DOID:0060823", "OMIM:300699", "UMLS:C2678051", "MESH:C567479", "medgen:437111", "ICD10:F72"], "information_content": 100.0}
{"id": "NCBIGene:56660", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNK12", "equivalent_identifiers": ["NCBIGene:56660", "ENSEMBL:ENSG00000184261", "HGNC:6274", "OMIM:607366", "UMLS:C1416593", "UniProtKB:Q9HB15", "PR:Q9HB15", "ENSEMBL:ENSP00000327611", "ENSEMBL:ENSP00000327611.3", "UMLS:C3851442", "MESH:C586367"], "information_content": 95.4}
{"id": "UniProtKB:Q9H267-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 33B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H267-1", "PR:Q9H267-1", "ENSEMBL:ENSP00000327650", "ENSEMBL:ENSP00000327650.4"], "information_content": 100.0}
{"id": "MONDO:0016383", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrogenic diabetes insipidus", "equivalent_identifiers": ["MONDO:0016383", "DOID:12387", "orphanet:223", "UMLS:C0162283", "MESH:D018500", "MEDDRA:10012600", "MEDDRA:10029147", "NCIT:C84919", "SNOMEDCT:111395007", "medgen:57876", "icd11.foundation:1417669099", "ICD10:N25.1", "ICD9:588.1", "HP:0009806"], "information_content": 92.8}
{"id": "MONDO:0012556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DK1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012556", "DOID:0080565", "OMIM:610768", "orphanet:91131", "UMLS:C1835849", "MESH:C563666", "SNOMEDCT:718712005", "medgen:332072"], "information_content": 100.0}
{"id": "NCBIGene:389257", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC14B", "equivalent_identifiers": ["NCBIGene:389257", "ENSEMBL:ENSG00000185028", "HGNC:37268", "UMLS:C2829639", "UniProtKB:A6NHZ5", "PR:A6NHZ5", "ENSEMBL:ENSP00000327675", "ENSEMBL:ENSP00000327675.3"], "information_content": 100.0}
{"id": "NCBIGene:2897", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRIK1", "equivalent_identifiers": ["NCBIGene:2897", "ENSEMBL:ENSG00000171189", "HGNC:4579", "OMIM:138245", "UMLS:C1415293", "UniProtKB:B7Z256", "UMLS:C1744472", "UniProtKB:B7Z3V7", "UniProtKB:E7ENK3", "ENSEMBL:ENSP00000327687", "ENSEMBL:ENSP00000327687.4", "UniProtKB:E7EPY9", "ENSEMBL:ENSP00000382798", "ENSEMBL:ENSP00000382798.1", "UniProtKB:E7EPZ0", "ENSEMBL:ENSP00000382793", "ENSEMBL:ENSP00000382793.1", "UniProtKB:E9PD61", "ENSEMBL:ENSP00000382797", "ENSEMBL:ENSP00000382797.1", "UniProtKB:P39086", "PR:P39086"]}
{"id": "UniProtKB:O94973-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-2 complex subunit alpha-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O94973-2", "PR:O94973-2", "ENSEMBL:ENSP00000327694", "ENSEMBL:ENSP00000327694.5"], "information_content": 100.0}
{"id": "NCBIGene:338398", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R60", "equivalent_identifiers": ["NCBIGene:338398", "ENSEMBL:ENSG00000185899", "HGNC:20639", "OMIM:613968", "UMLS:C1427048", "UniProtKB:P59551", "PR:P59551", "ENSEMBL:ENSP00000327724", "ENSEMBL:ENSP00000327724.1", "ENSEMBL:ENSP00000494922", "ENSEMBL:ENSP00000494922.1"], "information_content": 100.0}
{"id": "NCBIGene:402573", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPACDR", "equivalent_identifiers": ["NCBIGene:402573", "ENSEMBL:ENSG00000185955", "HGNC:22135", "OMIM:619782", "UMLS:C2681246", "UniProtKB:Q8IZ16", "PR:Q8IZ16", "ENSEMBL:ENSP00000327732", "ENSEMBL:ENSP00000327732.3"], "information_content": 100.0}
{"id": "NCBIGene:339976", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIML1", "equivalent_identifiers": ["NCBIGene:339976", "ENSEMBL:ENSG00000184108", "HGNC:26698", "OMIM:620979", "UMLS:C2240118", "UniProtKB:Q8N9V2", "PR:Q8N9V2", "ENSEMBL:ENSP00000327738", "ENSEMBL:ENSP00000327738.3"], "information_content": 100.0}
{"id": "MONDO:0013058", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystic leukoencephalopathy without megalencephaly", "equivalent_identifiers": ["MONDO:0013058", "DOID:0081007", "OMIM:612951", "orphanet:85136", "UMLS:C2751843", "MESH:C567845", "SNOMEDCT:720825005", "medgen:416646", "icd11.foundation:1081165012"], "information_content": 100.0}
{"id": "MONDO:0010598", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease IXa1", "equivalent_identifiers": ["MONDO:0010598", "DOID:0111042", "DOID:2751", "OMIM:306000", "UMLS:C0017927", "UMLS:C1844412", "UMLS:C3694531", "MESH:C564421", "MESH:D006015", "MEDDRA:10053242", "MEDDRA:10053253", "MEDDRA:10053256", "SNOMEDCT:297255007", "SNOMEDCT:41527003", "medgen:854172"], "information_content": 100.0}
{"id": "UniProtKB:P52952-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Nkx-2.5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P52952-1", "PR:P52952-1", "ENSEMBL:ENSP00000327758", "ENSEMBL:ENSP00000327758.4"], "information_content": 100.0}
{"id": "UniProtKB:E7ENG2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E7ENG2_HUMAN Cytoplasmic linker associated protein 2 (trembl)", "equivalent_identifiers": ["UniProtKB:E7ENG2", "ENSEMBL:ENSP00000327760", "ENSEMBL:ENSP00000327760.6"]}
{"id": "NCBIGene:338322", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NLRP10", "equivalent_identifiers": ["NCBIGene:338322", "ENSEMBL:ENSG00000182261", "HGNC:21464", "OMIM:609662", "UMLS:C1826441", "UniProtKB:Q86W26", "PR:Q86W26", "ENSEMBL:ENSP00000327763", "ENSEMBL:ENSP00000327763.2", "ENSEMBL:ENSP00000478480", "ENSEMBL:ENSP00000478480.1", "ENSEMBL:ENSP00000486762", "ENSEMBL:ENSP00000486762.1", "ENSEMBL:ENSP00000509542", "ENSEMBL:ENSP00000509542.1", "UMLS:C1530408", "MESH:C494352"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYV9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "izumo sperm-egg fusion protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYV9-1", "PR:Q8IYV9-1", "ENSEMBL:ENSP00000327786", "ENSEMBL:ENSP00000327786.2"], "information_content": 100.0}
{"id": "MONDO:0015200", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anisakiasis", "equivalent_identifiers": ["MONDO:0015200", "DOID:7033", "orphanet:1070", "EFO:0007146", "UMLS:C0162576", "MESH:D017129", "MEDDRA:10002533", "MEDDRA:10020007", "NCIT:C128393", "SNOMEDCT:442652006", "medgen:102418", "icd11.foundation:2005274000", "ICD10:B81.0", "ICD9:127.1"], "information_content": 100.0}
{"id": "NCBIGene:285429", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCAF4L1", "equivalent_identifiers": ["NCBIGene:285429", "ENSEMBL:ENSG00000182308", "HGNC:27723", "UMLS:C1538076", "UniProtKB:Q3SXM0", "PR:Q3SXM0", "ENSEMBL:ENSP00000327796", "ENSEMBL:ENSP00000327796.5"], "information_content": 95.4}
{"id": "NCBIGene:5034", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "P4HB", "equivalent_identifiers": ["NCBIGene:5034", "ENSEMBL:ENSG00000185624", "HGNC:8548", "OMIM:176790", "UMLS:C1418224", "UniProtKB:A0A024R8S5", "UMLS:C2351327", "MESH:C526497", "UniProtKB:P07237", "PR:P07237", "ENSEMBL:ENSP00000327801", "ENSEMBL:ENSP00000327801.4"], "information_content": 83.1}
{"id": "NCBIGene:11260", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XPOT", "equivalent_identifiers": ["NCBIGene:11260", "ENSEMBL:ENSG00000184575", "HGNC:12826", "OMIM:603180", "UMLS:C1421545", "UniProtKB:O43592", "PR:O43592", "ENSEMBL:ENSP00000327821", "ENSEMBL:ENSP00000327821.5", "UMLS:C1610363", "MESH:C503618"], "information_content": 90.9}
{"id": "UniProtKB:Q8IU57-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon lambda receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IU57-1", "PR:Q8IU57-1", "ENSEMBL:ENSP00000327824", "ENSEMBL:ENSP00000327824.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5SQI0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-tubulin N-acetyltransferase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5SQI0-2", "PR:Q5SQI0-2", "ENSEMBL:ENSP00000327832", "ENSEMBL:ENSP00000327832.5", "ENSEMBL:ENSP00000373076", "ENSEMBL:ENSP00000373076.4", "ENSEMBL:ENSP00000389129", "ENSEMBL:ENSP00000389129.2", "ENSEMBL:ENSP00000391244", "ENSEMBL:ENSP00000391244.2", "ENSEMBL:ENSP00000398374", "ENSEMBL:ENSP00000398374.2", "ENSEMBL:ENSP00000412993", "ENSEMBL:ENSP00000412993.2", "ENSEMBL:ENSP00000416925", "ENSEMBL:ENSP00000416925.2"], "information_content": 100.0}
{"id": "NCBIGene:80789", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INTS5", "equivalent_identifiers": ["NCBIGene:80789", "ENSEMBL:ENSG00000185085", "HGNC:29352", "OMIM:611349", "UMLS:C1825607", "UniProtKB:Q6P9B9", "PR:Q6P9B9", "ENSEMBL:ENSP00000327889", "ENSEMBL:ENSP00000327889.2"], "information_content": 89.4}
{"id": "UniProtKB:P26951-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-3 receptor subunit alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P26951-1", "PR:P26951-1", "ENSEMBL:ENSP00000327890", "ENSEMBL:ENSP00000327890.4", "ENSEMBL:ENSP00000518590", "ENSEMBL:ENSP00000518590.1"], "information_content": 100.0}
{"id": "UniProtKB:P31639-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/glucose cotransporter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P31639-1", "PR:P31639-1", "ENSEMBL:ENSP00000327943", "ENSEMBL:ENSP00000327943.3"], "information_content": 100.0}
{"id": "MONDO:0100160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alcoholic ketoacidosis", "equivalent_identifiers": ["MONDO:0100160", "DOID:0080949", "UMLS:C0268039", "MEDDRA:10079252", "SNOMEDCT:55571001", "medgen:541151"], "information_content": 100.0}
{"id": "NCBIGene:100128569", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEKTIP1", "equivalent_identifiers": ["NCBIGene:100128569", "ENSEMBL:ENSG00000183397", "HGNC:34496", "UMLS:C2681314", "UniProtKB:A0A804HK34", "ENSEMBL:ENSP00000507755", "ENSEMBL:ENSP00000507755.1", "UniProtKB:A6NCJ1", "PR:A6NCJ1", "ENSEMBL:ENSP00000327950", "ENSEMBL:ENSP00000327950.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15583-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein TGIF1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q15583-4", "PR:Q15583-4", "ENSEMBL:ENSP00000327959", "ENSEMBL:ENSP00000327959.6", "ENSEMBL:ENSP00000343969", "ENSEMBL:ENSP00000343969.5", "ENSEMBL:ENSP00000383031", "ENSEMBL:ENSP00000383031.2", "ENSEMBL:ENSP00000384970", "ENSEMBL:ENSP00000384970.2", "ENSEMBL:ENSP00000385206", "ENSEMBL:ENSP00000385206.1", "ENSEMBL:ENSP00000447747", "ENSEMBL:ENSP00000447747.2", "ENSEMBL:ENSP00000449501", "ENSEMBL:ENSP00000449501.1", "ENSEMBL:ENSP00000450025", "ENSEMBL:ENSP00000450025.1"], "information_content": 100.0}
{"id": "NCBIGene:333929", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNAI3", "equivalent_identifiers": ["NCBIGene:333929", "ENSEMBL:ENSG00000185669", "HGNC:18411", "OMIM:612741", "UMLS:C1425507", "UniProtKB:Q3KNW1", "PR:Q3KNW1", "ENSEMBL:ENSP00000327968", "ENSEMBL:ENSP00000327968.5", "UMLS:C1433549", "MESH:C480364"], "information_content": 92.8}
{"id": "UniProtKB:Q86XT4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM50 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q86XT4-1", "PR:Q86XT4-1", "ENSEMBL:ENSP00000327994", "ENSEMBL:ENSP00000327994.2", "ENSEMBL:ENSP00000413875", "ENSEMBL:ENSP00000413875.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IY57-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "YY1-associated factor 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY57-5", "PR:Q8IY57-5", "ENSEMBL:ENSP00000328004", "ENSEMBL:ENSP00000328004.5"], "information_content": 100.0}
{"id": "NCBIGene:388121", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFAIP8L3", "equivalent_identifiers": ["NCBIGene:388121", "ENSEMBL:ENSG00000183578", "HGNC:20620", "OMIM:616438", "UMLS:C1823459", "UniProtKB:A0A1B0GTK8", "ENSEMBL:ENSP00000489743", "ENSEMBL:ENSP00000489743.1", "UMLS:C3884442", "MESH:C000593651", "UniProtKB:Q5GJ75", "PR:Q5GJ75", "ENSEMBL:ENSP00000328016", "ENSEMBL:ENSP00000328016.5"], "information_content": 100.0}
{"id": "UniProtKB:P08240-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal recognition particle receptor subunit alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08240-1", "PR:P08240-1", "ENSEMBL:ENSP00000328023", "ENSEMBL:ENSP00000328023.5"], "information_content": 100.0}
{"id": "NCBIGene:347516", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DGAT2L6", "equivalent_identifiers": ["NCBIGene:347516", "ENSEMBL:ENSG00000184210", "HGNC:23250", "OMIM:300926", "UMLS:C1824928", "UniProtKB:Q6ZPD8", "PR:Q6ZPD8", "ENSEMBL:ENSP00000328036", "ENSEMBL:ENSP00000328036.3"], "information_content": 95.4}
{"id": "MONDO:0019307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized junctional epidermolysis bullosa non-Herlitz type", "equivalent_identifiers": ["MONDO:0019307", "DOID:0060738", "orphanet:79402", "UMLS:C0432326", "SNOMEDCT:254196004", "SNOMEDCT:724225008", "medgen:609458"], "information_content": 100.0}
{"id": "MONDO:0012866", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 35", "equivalent_identifiers": ["MONDO:0012866", "DOID:0110786", "OMIM:612319", "orphanet:171629", "UMLS:C3496228", "MESH:C567311", "SNOMEDCT:764688002", "medgen:501249"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVW2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RLIM isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVW2-1", "PR:Q9NVW2-1", "ENSEMBL:ENSP00000253571", "ENSEMBL:ENSP00000253571.3", "ENSEMBL:ENSP00000328059", "ENSEMBL:ENSP00000328059.6"], "information_content": 100.0}
{"id": "NCBIGene:201243", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPEM2", "equivalent_identifiers": ["NCBIGene:201243", "ENSEMBL:ENSG00000184560", "HGNC:27315", "UMLS:C4555142", "UniProtKB:Q0P670", "PR:Q0P670", "ENSEMBL:ENSP00000328061", "ENSEMBL:ENSP00000328061.3", "ENSEMBL:ENSP00000492107", "ENSEMBL:ENSP00000492107.1"], "information_content": 100.0}
{"id": "NCBIGene:348793", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR53", "equivalent_identifiers": ["NCBIGene:348793", "ENSEMBL:ENSG00000185798", "HGNC:28786", "OMIM:615110", "UMLS:C1538098", "UniProtKB:C9JBE7", "ENSEMBL:ENSP00000410677", "ENSEMBL:ENSP00000410677.1", "UniProtKB:C9JJZ8", "ENSEMBL:ENSP00000396668", "ENSEMBL:ENSP00000396668.1", "UniProtKB:Q7Z5U6", "PR:Q7Z5U6", "ENSEMBL:ENSP00000328079", "ENSEMBL:ENSP00000328079.5"], "information_content": 95.4}
{"id": "NCBIGene:389337", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGEF37", "equivalent_identifiers": ["NCBIGene:389337", "ENSEMBL:ENSG00000183111", "HGNC:34430", "OMIM:620664", "UMLS:C2828661", "UniProtKB:A1IGU5", "PR:A1IGU5", "ENSEMBL:ENSP00000328083", "ENSEMBL:ENSP00000328083.6"], "information_content": 95.4}
{"id": "MONDO:0007550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 1A, generalized severe", "equivalent_identifiers": ["MONDO:0007550", "DOID:0060735", "OMIM:131760", "orphanet:79396", "UMLS:C0079295", "SNOMEDCT:254179000", "medgen:38194", "ICD10:Q81.0"], "information_content": 100.0}
{"id": "NCBIGene:5074", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAWR", "equivalent_identifiers": ["NCBIGene:5074", "ENSEMBL:ENSG00000177425", "HGNC:8614", "OMIM:601936", "UMLS:C1335191", "UniProtKB:Q96IZ0", "PR:Q96IZ0", "ENSEMBL:ENSP00000328088", "ENSEMBL:ENSP00000328088.4", "UMLS:C1453703"], "information_content": 95.4}
{"id": "UniProtKB:Q9H293-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-25 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H293-1", "PR:Q9H293-1", "ENSEMBL:ENSP00000328111", "ENSEMBL:ENSP00000328111.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86YR7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable guanine nucleotide exchange factor MCF2L2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YR7-1", "PR:Q86YR7-1", "ENSEMBL:ENSP00000328118", "ENSEMBL:ENSP00000328118.3"], "information_content": 100.0}
{"id": "MONDO:0011415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 3", "equivalent_identifiers": ["MONDO:0011415", "DOID:0110331", "OMIM:604232", "UMLS:C1858677", "MESH:C565814", "medgen:346964"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXL0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-20 receptor subunit beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXL0-1", "PR:Q6UXL0-1", "ENSEMBL:ENSP00000328133", "ENSEMBL:ENSP00000328133.4"], "information_content": 100.0}
{"id": "UniProtKB:P04732-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metallothionein-1E isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P04732-2", "PR:P04732-2", "ENSEMBL:ENSP00000328137", "ENSEMBL:ENSP00000328137.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y219-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein jagged-2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9Y219-1", "PR:Q9Y219-1", "ENSEMBL:ENSP00000328169", "ENSEMBL:ENSP00000328169.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H611-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent DNA helicase PIF1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9H611-3", "PR:Q9H611-3", "ENSEMBL:ENSP00000328174", "ENSEMBL:ENSP00000328174.6"], "information_content": 100.0}
{"id": "NCBIGene:9241", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOG", "equivalent_identifiers": ["NCBIGene:9241", "ENSEMBL:ENSG00000183691", "HGNC:7866", "OMIM:602991", "UMLS:C1417753", "UniProtKB:Q13253", "PR:Q13253", "ENSEMBL:ENSP00000328181", "ENSEMBL:ENSP00000328181.4", "UMLS:C4084599"], "information_content": 82.1}
{"id": "NCBIGene:2055", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLN8", "equivalent_identifiers": ["NCBIGene:2055", "ENSEMBL:ENSG00000182372", "HGNC:2079", "OMIM:607837", "UMLS:C1413500", "UniProtKB:Q9UBY8", "PR:Q9UBY8", "ENSEMBL:ENSP00000328182", "ENSEMBL:ENSP00000328182.4", "ENSEMBL:ENSP00000482713", "ENSEMBL:ENSP00000482713.1", "ENSEMBL:ENSP00000489694", "ENSEMBL:ENSP00000489694.1", "ENSEMBL:ENSP00000490016", "ENSEMBL:ENSP00000490016.1", "ENSEMBL:ENSP00000490235", "ENSEMBL:ENSP00000490235.1", "ENSEMBL:ENSP00000490439", "ENSEMBL:ENSP00000490439.1", "ENSEMBL:ENSP00000490458", "ENSEMBL:ENSP00000490458.1", "UMLS:C1449295", "MESH:C121767"], "information_content": 100.0}
{"id": "MONDO:0054654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 32", "equivalent_identifiers": ["MONDO:0054654", "DOID:0111492", "OMIM:617664", "UMLS:C4540029", "medgen:1617600"], "information_content": 100.0}
{"id": "UniProtKB:O94952-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 21 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94952-2", "PR:O94952-2", "ENSEMBL:ENSP00000328187", "ENSEMBL:ENSP00000328187.5"], "information_content": 100.0}
{"id": "NCBIGene:10293", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRAIP", "equivalent_identifiers": ["NCBIGene:10293", "ENSEMBL:ENSG00000183763", "HGNC:30764", "OMIM:605958", "UMLS:C2608049", "UniProtKB:Q9BWF2", "PR:Q9BWF2", "ENSEMBL:ENSP00000328203", "ENSEMBL:ENSP00000328203.2", "UMLS:C4084847", "UMLS:C4277065", "MESH:C000607340"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y5U5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 18 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5U5-2", "PR:Q9Y5U5-2", "ENSEMBL:ENSP00000328207", "ENSEMBL:ENSP00000328207.6"], "information_content": 100.0}
{"id": "NCBIGene:120793", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR56A4", "equivalent_identifiers": ["NCBIGene:120793", "ENSEMBL:ENSG00000183389", "HGNC:14791", "UMLS:C1422938", "UniProtKB:A0A126GWQ5", "UniProtKB:A0A2C9F2M6", "ENSEMBL:ENSP00000328215", "ENSEMBL:ENSP00000328215.4", "UniProtKB:Q8NGH8", "PR:Q8NGH8", "ENSEMBL:ENSP00000492932", "ENSEMBL:ENSP00000492932.1", "ENSEMBL:ENSP00000492934", "ENSEMBL:ENSP00000492934.1", "ENSEMBL:ENSP00000493371", "ENSEMBL:ENSP00000493371.1"]}
{"id": "UniProtKB:Q69YH5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell division cycle-associated protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q69YH5-1", "PR:Q69YH5-1", "ENSEMBL:ENSP00000328228", "ENSEMBL:ENSP00000328228.3"], "information_content": 100.0}
{"id": "NCBIGene:2865", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FFAR3", "equivalent_identifiers": ["NCBIGene:2865", "ENSEMBL:ENSG00000185897", "HGNC:4499", "OMIM:603821", "UMLS:C1825294", "UniProtKB:A0A0K0PUW7", "UMLS:C0539602", "MESH:C106262", "UniProtKB:O14843", "PR:O14843", "ENSEMBL:ENSP00000328230", "ENSEMBL:ENSP00000328230.3", "ENSEMBL:ENSP00000469522", "ENSEMBL:ENSP00000469522.1"], "information_content": 100.0}
{"id": "UniProtKB:P50748-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinetochore-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P50748-1", "PR:P50748-1", "ENSEMBL:ENSP00000328236", "ENSEMBL:ENSP00000328236.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUF8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal oxygenase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUF8-1", "PR:Q8IUF8-1", "ENSEMBL:ENSP00000328251", "ENSEMBL:ENSP00000328251.6", "ENSEMBL:ENSP00000377748", "ENSEMBL:ENSP00000377748.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9P0W2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0W2-1", "PR:Q9P0W2-1", "ENSEMBL:ENSP00000328269", "ENSEMBL:ENSP00000328269.6"], "information_content": 100.0}
{"id": "NCBIGene:81871", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP4-6", "equivalent_identifiers": ["NCBIGene:81871", "ENSEMBL:ENSG00000198090", "HGNC:18909", "UMLS:C1425877", "UniProtKB:Q9BYQ5", "PR:Q9BYQ5", "ENSEMBL:ENSP00000328270", "ENSEMBL:ENSP00000328270.5", "ENSEMBL:ENSP00000517800", "ENSEMBL:ENSP00000517800.1"], "information_content": 100.0}
{"id": "MONDO:0015404", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rapidly involuting congenital hemangioma", "equivalent_identifiers": ["MONDO:0015404", "DOID:0080895", "orphanet:141184", "UMLS:C1275421", "NCIT:C172207", "SNOMEDCT:400162006", "SNOMEDCT:703294004", "medgen:698687"], "information_content": 100.0}
{"id": "UniProtKB:Q5XPI4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF123 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5XPI4-1", "PR:Q5XPI4-1", "ENSEMBL:ENSP00000328287", "ENSEMBL:ENSP00000328287.6"], "information_content": 100.0}
{"id": "NCBIGene:754", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTTG1IP", "equivalent_identifiers": ["NCBIGene:754", "ENSEMBL:ENSG00000183255", "HGNC:13524", "OMIM:603784", "UMLS:C1422035", "UniProtKB:B4DPZ0", "ENSEMBL:ENSP00000395374", "ENSEMBL:ENSP00000395374.2", "UMLS:C1308567", "MESH:C112633", "UniProtKB:P53801", "PR:P53801", "ENSEMBL:ENSP00000328325", "ENSEMBL:ENSP00000328325.3"], "information_content": 92.8}
{"id": "NCBIGene:114786", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XKR4", "equivalent_identifiers": ["NCBIGene:114786", "ENSEMBL:ENSG00000206579", "HGNC:29394", "UMLS:C1823871", "UniProtKB:Q5GH76", "PR:Q5GH76", "ENSEMBL:ENSP00000328326", "ENSEMBL:ENSP00000328326.5", "UMLS:C3492964", "MESH:C573063"], "information_content": 92.8}
{"id": "MONDO:0018945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "McLeod syndrome", "equivalent_identifiers": ["MONDO:0018945", "DOID:0112107", "OMIM:300842", "orphanet:59306", "UMLS:C0398568", "UMLS:C0878670", "MESH:C564038", "SNOMEDCT:115845005", "SNOMEDCT:234411007", "medgen:140765", "icd11.foundation:1749275115"], "information_content": 100.0}
{"id": "MONDO:0008151", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gnathodiaphyseal dysplasia", "equivalent_identifiers": ["MONDO:0008151", "DOID:0111533", "OMIM:166260", "orphanet:53697", "UMLS:C1833736", "MESH:C536039", "SNOMEDCT:715568002", "medgen:331575", "icd11.foundation:1984860886"], "information_content": 100.0}
{"id": "UniProtKB:Q9H672-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and SOCS box protein 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H672-1", "PR:Q9H672-1", "ENSEMBL:ENSP00000328327", "ENSEMBL:ENSP00000328327.8"], "information_content": 100.0}
{"id": "MONDO:0009964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 9 with or without polydactyly", "equivalent_identifiers": ["MONDO:0009964", "DOID:0110097", "OMIM:266920", "orphanet:140969", "UMLS:C1849437", "MESH:C535463", "MEDDRA:10088468", "SNOMEDCT:254092004", "medgen:341455"], "information_content": 100.0}
{"id": "MONDO:0007705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Heinz body anemia", "equivalent_identifiers": ["MONDO:0007705", "DOID:0111363", "OMIM:140700", "UMLS:C0700299", "MESH:C563030", "MEDDRA:10002058", "MEDDRA:10002283", "medgen:148583", "HP:0005511"], "information_content": 100.0}
{"id": "NCBIGene:644538", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM10", "equivalent_identifiers": ["NCBIGene:644538", "ENSEMBL:ENSG00000184785", "HGNC:41913", "UMLS:C3543509", "UniProtKB:Q96HG1", "PR:Q96HG1", "ENSEMBL:ENSP00000328335", "ENSEMBL:ENSP00000328335.4", "UMLS:C5196805", "MESH:C000630144"], "information_content": 95.4}
{"id": "NCBIGene:51286", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEND1", "equivalent_identifiers": ["NCBIGene:51286", "ENSEMBL:ENSG00000184524", "HGNC:24153", "OMIM:608213", "UMLS:C1824699", "UniProtKB:Q8N111", "PR:Q8N111", "ENSEMBL:ENSP00000328336", "ENSEMBL:ENSP00000328336.4", "UMLS:C0966290", "MESH:C426444"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUD6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF135 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUD6-1", "PR:Q8IUD6-1", "ENSEMBL:ENSP00000328340", "ENSEMBL:ENSP00000328340.5", "ENSEMBL:ENSP00000517221", "ENSEMBL:ENSP00000517221.1"], "information_content": 100.0}
{"id": "NCBIGene:642273", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM110C", "equivalent_identifiers": ["NCBIGene:642273", "ENSEMBL:ENSG00000184731", "HGNC:33340", "OMIM:611395", "UMLS:C1969643", "UniProtKB:Q1W6H9", "PR:Q1W6H9", "ENSEMBL:ENSP00000328347", "ENSEMBL:ENSP00000328347.4", "UMLS:C2002400", "MESH:C523019"], "information_content": 100.0}
{"id": "NCBIGene:338785", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT79", "equivalent_identifiers": ["NCBIGene:338785", "ENSEMBL:ENSG00000185640", "HGNC:28930", "OMIM:611160", "UMLS:C1970031", "UniProtKB:Q5XKE5", "PR:Q5XKE5", "ENSEMBL:ENSP00000328358", "ENSEMBL:ENSP00000328358.5"], "information_content": 95.4}
{"id": "NCBIGene:1668", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFA3", "equivalent_identifiers": ["NCBIGene:1668", "ENSEMBL:ENSG00000239839", "HGNC:2762", "OMIM:604522", "UMLS:C1413974", "UniProtKB:P59666", "PR:P59666", "ENSEMBL:ENSP00000328359", "ENSEMBL:ENSP00000328359.2", "UMLS:C0122160", "MESH:C406427", "UniProtKB:Q6EZE9"], "information_content": 92.8}
{"id": "NCBIGene:389692", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAFA", "equivalent_identifiers": ["NCBIGene:389692", "ENSEMBL:ENSG00000182759", "HGNC:23145", "OMIM:610303", "UMLS:C1427946", "UniProtKB:Q8NHW3", "PR:Q8NHW3", "ENSEMBL:ENSP00000328364", "ENSEMBL:ENSP00000328364.2", "UMLS:C1436437", "MESH:C485159"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z5L0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vitelline membrane outer layer protein 1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5L0-1", "PR:Q7Z5L0-1", "ENSEMBL:ENSP00000328397", "ENSEMBL:ENSP00000328397.5"], "information_content": 100.0}
{"id": "NCBIGene:390326", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR6C76", "equivalent_identifiers": ["NCBIGene:390326", "ENSEMBL:ENSG00000185821", "HGNC:31305", "UMLS:C1429161", "UniProtKB:A0A126GW16", "UniProtKB:A6NM76", "PR:A6NM76", "ENSEMBL:ENSP00000328402", "ENSEMBL:ENSP00000328402.3"], "information_content": 100.0}
{"id": "NCBIGene:5148", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDE6G", "equivalent_identifiers": ["NCBIGene:5148", "ENSEMBL:ENSG00000185527", "HGNC:8789", "OMIM:180073", "UMLS:C1418429", "UniProtKB:P18545", "PR:P18545", "ENSEMBL:ENSP00000328412", "ENSEMBL:ENSP00000328412.5", "ENSEMBL:ENSP00000458167", "ENSEMBL:ENSP00000458167.1", "ENSEMBL:ENSP00000461464", "ENSEMBL:ENSP00000461464.1", "UMLS:C1721301", "MESH:C517433"], "information_content": 95.4}
{"id": "NCBIGene:283677", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "REC114", "equivalent_identifiers": ["NCBIGene:283677", "ENSEMBL:ENSG00000183324", "HGNC:25065", "OMIM:618421", "UMLS:C2681290", "UniProtKB:H0YKR2", "ENSEMBL:ENSP00000452908", "ENSEMBL:ENSP00000452908.1", "UMLS:C4507522", "MESH:C000620271", "UniProtKB:Q7Z4M0", "PR:Q7Z4M0", "ENSEMBL:ENSP00000328423", "ENSEMBL:ENSP00000328423.6"], "information_content": 100.0}
{"id": "UniProtKB:Q5VWN6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein TASOR 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VWN6-1", "PR:Q5VWN6-1", "ENSEMBL:ENSP00000328426", "ENSEMBL:ENSP00000328426.5", "ENSEMBL:ENSP00000512130", "ENSEMBL:ENSP00000512130.1", "ENSEMBL:ENSP00000512207", "ENSEMBL:ENSP00000512207.1"], "information_content": 100.0}
{"id": "MONDO:0013674", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with brain iron accumulation 4", "equivalent_identifiers": ["MONDO:0013674", "DOID:0110738", "OMIM:614298", "orphanet:289560", "UMLS:C3280371", "NCIT:C175707", "SNOMEDCT:709415008", "medgen:482001"], "information_content": 100.0}
{"id": "NCBIGene:728224", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP4-8", "equivalent_identifiers": ["NCBIGene:728224", "ENSEMBL:ENSG00000204880", "HGNC:17230", "UMLS:C1424840", "UniProtKB:A0A0G2JLE6", "ENSEMBL:ENSP00000461030", "ENSEMBL:ENSP00000461030.2", "UniProtKB:Q9BYQ9", "PR:Q9BYQ9", "ENSEMBL:ENSP00000328444", "ENSEMBL:ENSP00000328444.4", "ENSEMBL:ENSP00000517793", "ENSEMBL:ENSP00000517793.1"], "information_content": 100.0}
{"id": "MONDO:0010355", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Claes-Jensen type", "equivalent_identifiers": ["MONDO:0010355", "DOID:0060809", "OMIM:300534", "orphanet:85279", "UMLS:C1845243", "UMLS:C4304915", "MESH:C564494", "SNOMEDCT:719161008", "medgen:335139"], "information_content": 100.0}
{"id": "UniProtKB:Q9H228-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sphingosine 1-phosphate receptor 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H228-1", "PR:Q9H228-1", "ENSEMBL:ENSP00000328472", "ENSEMBL:ENSP00000328472.3", "ENSEMBL:ENSP00000416915", "ENSEMBL:ENSP00000416915.2"], "information_content": 100.0}
{"id": "NCBIGene:1260", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNGA2", "equivalent_identifiers": ["NCBIGene:1260", "ENSEMBL:ENSG00000183862", "HGNC:2149", "OMIM:300338", "UMLS:C1413544", "UniProtKB:B3KXY3", "UMLS:C1451591", "MESH:C518241", "UniProtKB:Q16280", "PR:Q16280", "ENSEMBL:ENSP00000328478", "ENSEMBL:ENSP00000328478.4"], "information_content": 100.0}
{"id": "MONDO:0013922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 7", "equivalent_identifiers": ["MONDO:0013922", "DOID:0070011", "OMIM:614851", "orphanet:319675", "UMLS:C3553870", "medgen:766784"], "information_content": 100.0}
{"id": "MONDO:0009795", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome IX", "equivalent_identifiers": ["MONDO:0009795", "DOID:0060382", "OMIM:258865", "orphanet:141007", "UMLS:C0796102", "MESH:C557818", "SNOMEDCT:718680001", "medgen:162908"], "information_content": 100.0}
{"id": "NCBIGene:55231", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC87", "equivalent_identifiers": ["NCBIGene:55231", "ENSEMBL:ENSG00000182791", "HGNC:25579", "UMLS:C1824613", "UniProtKB:Q9NVE4", "PR:Q9NVE4", "ENSEMBL:ENSP00000328487", "ENSEMBL:ENSP00000328487.3"], "information_content": 100.0}
{"id": "NCBIGene:3739", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNA4", "equivalent_identifiers": ["NCBIGene:3739", "ENSEMBL:ENSG00000182255", "HGNC:6222", "OMIM:176266", "UMLS:C1416547", "UniProtKB:P22459", "PR:P22459", "ENSEMBL:ENSP00000328511", "ENSEMBL:ENSP00000328511.6", "UMLS:C1566186", "MESH:C496977"], "information_content": 100.0}
{"id": "UniProtKB:Q6IQ26-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DENN domain-containing protein 5A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IQ26-1", "PR:Q6IQ26-1", "ENSEMBL:ENSP00000328524", "ENSEMBL:ENSP00000328524.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBC3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA (cytosine-5)-methyltransferase 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBC3-1", "PR:Q9UBC3-1", "ENSEMBL:ENSP00000328547", "ENSEMBL:ENSP00000328547.2"], "information_content": 100.0}
{"id": "UniProtKB:P51157-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-28 isoform S (human)", "equivalent_identifiers": ["UniProtKB:P51157-1", "PR:P51157-1", "ENSEMBL:ENSP00000328551", "ENSEMBL:ENSP00000328551.5"], "information_content": 100.0}
{"id": "MONDO:0012411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "giant axonal neuropathy 2", "equivalent_identifiers": ["MONDO:0012411", "DOID:0090069", "OMIM:610100", "orphanet:401964", "UMLS:C1864695", "MESH:C566444", "medgen:400593"], "information_content": 100.0}
{"id": "NCBIGene:51218", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLRX5", "equivalent_identifiers": ["NCBIGene:51218", "ENSEMBL:ENSG00000182512", "HGNC:20134", "OMIM:609588", "UMLS:C1825372", "UniProtKB:A0A384MDT9", "UMLS:C1870395", "MESH:C516011", "UniProtKB:Q86SX6", "PR:Q86SX6", "ENSEMBL:ENSP00000328570", "ENSEMBL:ENSP00000328570.4"], "information_content": 95.4}
{"id": "NCBIGene:4990", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIX6", "equivalent_identifiers": ["NCBIGene:4990", "ENSEMBL:ENSG00000184302", "HGNC:10892", "OMIM:606326", "UMLS:C1420077", "UniProtKB:O95475", "PR:O95475", "ENSEMBL:ENSP00000328596", "ENSEMBL:ENSP00000328596.5", "UMLS:C1452985", "MESH:C491945", "UniProtKB:Q6P051"], "information_content": 95.4}
{"id": "NCBIGene:3231", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXD1", "equivalent_identifiers": ["NCBIGene:3231", "ENSEMBL:ENSG00000128645", "HGNC:5132", "OMIM:142987", "UMLS:C1415683", "UniProtKB:Q96CA4", "UMLS:C1099885", "MESH:C442019", "UniProtKB:Q9GZZ0", "PR:Q9GZZ0", "ENSEMBL:ENSP00000328598", "ENSEMBL:ENSP00000328598.4"], "information_content": 100.0}
{"id": "NCBIGene:375387", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NRROS", "equivalent_identifiers": ["NCBIGene:375387", "ENSEMBL:ENSG00000174004", "HGNC:24613", "OMIM:615322", "UMLS:C1537608", "UniProtKB:Q86YC3", "PR:Q86YC3", "ENSEMBL:ENSP00000328625", "ENSEMBL:ENSP00000328625.4", "UMLS:C3657191", "MESH:C582014"], "information_content": 85.5}
{"id": "UniProtKB:Q70IA6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MOB kinase activator 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q70IA6-3", "PR:Q70IA6-3", "ENSEMBL:ENSP00000328694", "ENSEMBL:ENSP00000328694.6", "ENSEMBL:ENSP00000516915", "ENSEMBL:ENSP00000516915.1"], "information_content": 100.0}
{"id": "NCBIGene:219621", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CABCOCO1", "equivalent_identifiers": ["NCBIGene:219621", "ENSEMBL:ENSG00000183346", "HGNC:28678", "UMLS:C1538407", "UniProtKB:A0A7I2UT39", "ENSEMBL:ENSP00000496918", "ENSEMBL:ENSP00000496918.2", "UniProtKB:Q8IVU9", "PR:Q8IVU9", "ENSEMBL:ENSP00000328698", "ENSEMBL:ENSP00000328698.2", "UMLS:C3889635"], "information_content": 100.0}
{"id": "NCBIGene:51289", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RXFP3", "equivalent_identifiers": ["NCBIGene:51289", "ENSEMBL:ENSG00000182631", "HGNC:24883", "OMIM:609445", "UMLS:C1812639", "UniProtKB:Q9NSD7", "PR:Q9NSD7", "ENSEMBL:ENSP00000328708", "ENSEMBL:ENSP00000328708.3", "ENSEMBL:ENSP00000480733", "ENSEMBL:ENSP00000480733.1", "UMLS:C0915240", "MESH:C410092"], "information_content": 100.0}
{"id": "UniProtKB:P85037-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein K1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P85037-1", "PR:P85037-1", "ENSEMBL:ENSP00000328720", "ENSEMBL:ENSP00000328720.4"], "information_content": 100.0}
{"id": "UniProtKB:O60613-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "selenoprotein F isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60613-1", "PR:O60613-1", "ENSEMBL:ENSP00000328729", "ENSEMBL:ENSP00000328729.6"], "information_content": 100.0}
{"id": "NCBIGene:389151", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRR23B", "equivalent_identifiers": ["NCBIGene:389151", "ENSEMBL:ENSG00000184814", "HGNC:33764", "UMLS:C2828562", "UniProtKB:Q6ZRT6", "PR:Q6ZRT6", "ENSEMBL:ENSP00000328768", "ENSEMBL:ENSP00000328768.5"], "information_content": 100.0}
{"id": "DOID:0040021", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cephalosporin allergy", "equivalent_identifiers": ["DOID:0040021", "UMLS:C0571444", "SNOMEDCT:294532003"]}
{"id": "NCBIGene:10614", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HEXIM1", "equivalent_identifiers": ["NCBIGene:10614", "ENSEMBL:ENSG00000186834", "HGNC:24953", "OMIM:607328", "UMLS:C1825463", "UniProtKB:O94992", "PR:O94992", "ENSEMBL:ENSP00000328773", "ENSEMBL:ENSP00000328773.3", "UMLS:C1260118", "UMLS:C3813181", "MESH:C476123"], "information_content": 80.2}
{"id": "NCBIGene:1946", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EFNA5", "equivalent_identifiers": ["NCBIGene:1946", "ENSEMBL:ENSG00000184349", "HGNC:3225", "OMIM:601535", "UMLS:C1414304", "UniProtKB:D6RDV5", "ENSEMBL:ENSP00000426989", "ENSEMBL:ENSP00000426989.1", "UniProtKB:P52803", "PR:P52803", "ENSEMBL:ENSP00000328777", "ENSEMBL:ENSP00000328777.6"], "information_content": 89.4}
{"id": "UniProtKB:Q96L42-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated delayed rectifier potassium channel KCNH8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96L42-1", "PR:Q96L42-1", "ENSEMBL:ENSP00000328813", "ENSEMBL:ENSP00000328813.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable G-protein coupled receptor 132 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNW8-1", "PR:Q9UNW8-1", "ENSEMBL:ENSP00000328818", "ENSEMBL:ENSP00000328818.3", "ENSEMBL:ENSP00000438094", "ENSEMBL:ENSP00000438094.2"], "information_content": 100.0}
{"id": "UniProtKB:Q969P6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA topoisomerase I, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969P6-1", "PR:Q969P6-1", "ENSEMBL:ENSP00000328835", "ENSEMBL:ENSP00000328835.3"], "information_content": 100.0}
{"id": "UniProtKB:P98175-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000328848", "equivalent_identifiers": ["UniProtKB:P98175-5", "ENSEMBL:ENSP00000328848", "ENSEMBL:ENSP00000328848.8"]}
{"id": "NCBIGene:79050", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOC4L", "equivalent_identifiers": ["NCBIGene:79050", "ENSEMBL:ENSG00000184967", "HGNC:28461", "OMIM:612819", "UMLS:C1826447", "UniProtKB:Q9BVI4", "PR:Q9BVI4", "ENSEMBL:ENSP00000328854", "ENSEMBL:ENSP00000328854.1", "ENSEMBL:ENSP00000500901", "ENSEMBL:ENSP00000500901.1"], "information_content": 90.9}
{"id": "UniProtKB:O60296-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trafficking kinesin-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60296-1", "PR:O60296-1", "ENSEMBL:ENSP00000328875", "ENSEMBL:ENSP00000328875.3"], "information_content": 100.0}
{"id": "NCBIGene:390078", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52E6", "equivalent_identifiers": ["NCBIGene:390078", "ENSEMBL:ENSG00000205409", "HGNC:15215", "UMLS:C1423306", "UniProtKB:A0A126GVK5", "UniProtKB:Q96RD3", "PR:Q96RD3", "ENSEMBL:ENSP00000328878", "ENSEMBL:ENSP00000328878.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6NY19-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KN motif and ankyrin repeat domain-containing protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6NY19-2", "PR:Q6NY19-2", "ENSEMBL:ENSP00000328923", "ENSEMBL:ENSP00000328923.2"], "information_content": 100.0}
{"id": "MONDO:0013217", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 10", "equivalent_identifiers": ["MONDO:0013217", "DOID:0111888", "OMIM:613309", "UMLS:C2750080", "MESH:C567649", "NCIT:C176919", "medgen:412873"], "information_content": 100.0}
{"id": "NCBIGene:3214", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXB4", "equivalent_identifiers": ["NCBIGene:3214", "ENSEMBL:ENSG00000182742", "HGNC:5115", "OMIM:142965", "UMLS:C1415667", "UniProtKB:P17483", "PR:P17483", "ENSEMBL:ENSP00000328928", "ENSEMBL:ENSP00000328928.5", "UMLS:C0290908", "UMLS:C3642158", "MESH:C090460"], "information_content": 100.0}
{"id": "UniProtKB:Q63HM1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kynurenine formamidase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q63HM1-2", "PR:Q63HM1-2", "ENSEMBL:ENSP00000328938", "ENSEMBL:ENSP00000328938.5"], "information_content": 100.0}
{"id": "UniProtKB:Q14524-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium channel protein type 5 subunit alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14524-1", "PR:Q14524-1", "ENSEMBL:ENSP00000328968", "ENSEMBL:ENSP00000328968.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNE2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab effector Noc2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNE2-1", "PR:Q9UNE2-1", "ENSEMBL:ENSP00000328977", "ENSEMBL:ENSP00000328977.7", "ENSEMBL:ENSP00000479485", "ENSEMBL:ENSP00000479485.1", "ENSEMBL:ENSP00000483035", "ENSEMBL:ENSP00000483035.1", "ENSEMBL:ENSP00000487649", "ENSEMBL:ENSP00000487649.1"], "information_content": 100.0}
{"id": "NCBIGene:4166", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHST6", "equivalent_identifiers": ["NCBIGene:4166", "ENSEMBL:ENSG00000183196", "HGNC:6938", "OMIM:605294", "UMLS:C1417068", "UniProtKB:Q9GZX3", "PR:Q9GZX3", "ENSEMBL:ENSP00000328983", "ENSEMBL:ENSP00000328983.4", "ENSEMBL:ENSP00000375079", "ENSEMBL:ENSP00000375079.2", "ENSEMBL:ENSP00000496806", "ENSEMBL:ENSP00000496806.1", "ENSEMBL:ENSP00000497635", "ENSEMBL:ENSP00000497635.1", "UMLS:C1313612", "MESH:C000728087"], "information_content": 85.5}
{"id": "MONDO:0009515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Norum disease", "equivalent_identifiers": ["MONDO:0009515", "DOID:1391", "OMIM:245900", "orphanet:79293", "UMLS:C0023195", "MESH:D007863", "MEDDRA:10077917", "MEDDRA:10077928", "NCIT:C84813", "SNOMEDCT:1264565005", "SNOMEDCT:238091006", "medgen:9698", "icd11.foundation:1848131619"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5B6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PAX3- and PAX7-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5B6-1", "PR:Q9Y5B6-1", "ENSEMBL:ENSP00000328992", "ENSEMBL:ENSP00000328992.4"], "information_content": 100.0}
{"id": "MONDO:0014562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome", "equivalent_identifiers": ["MONDO:0014562", "DOID:0070244", "OMIM:616276", "orphanet:457185", "UMLS:C5568562", "SNOMEDCT:1186718008", "medgen:1799985"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPV9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trafficking kinesin-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPV9-1", "PR:Q9UPV9-1", "ENSEMBL:ENSP00000328998", "ENSEMBL:ENSP00000328998.5"], "information_content": 100.0}
{"id": "UniProtKB:O00165-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HCLS1-associated protein X-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00165-1", "PR:O00165-1", "ENSEMBL:ENSP00000329002", "ENSEMBL:ENSP00000329002.7", "ENSEMBL:ENSP00000512979", "ENSEMBL:ENSP00000512979.1"], "information_content": 100.0}
{"id": "NCBIGene:83733", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A18", "equivalent_identifiers": ["NCBIGene:83733", "ENSEMBL:ENSG00000182902", "HGNC:10988", "OMIM:609303", "UMLS:C1420159", "UniProtKB:Q9H1K4", "PR:Q9H1K4", "ENSEMBL:ENSP00000329033", "ENSEMBL:ENSP00000329033.5", "ENSEMBL:ENSP00000382710", "ENSEMBL:ENSP00000382710.1", "UMLS:C1432485", "MESH:C499216"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tryptophan 5-hydroxylase 2 isoform a (human)", "equivalent_identifiers": ["UniProtKB:Q8IWU9-1", "PR:Q8IWU9-1", "ENSEMBL:ENSP00000329093", "ENSEMBL:ENSP00000329093.3"], "information_content": 100.0}
{"id": "MONDO:0013976", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 9, hair/nail type", "equivalent_identifiers": ["MONDO:0013976", "DOID:0111656", "OMIM:614931", "UMLS:C3554127", "medgen:767041"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWS0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PHD finger protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWS0-1", "PR:Q8IWS0-1", "ENSEMBL:ENSP00000329097", "ENSEMBL:ENSP00000329097.3", "ENSEMBL:ENSP00000359839", "ENSEMBL:ENSP00000359839.4", "ENSEMBL:ENSP00000510211", "ENSEMBL:ENSP00000510211.1"], "information_content": 100.0}
{"id": "MONDO:0013222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Miyoshi muscular dystrophy 3", "equivalent_identifiers": ["MONDO:0013222", "DOID:0070201", "OMIM:613319", "orphanet:399096", "UMLS:C2750076", "MESH:C567645", "SNOMEDCT:783166000", "medgen:413750"], "information_content": 100.0}
{"id": "UniProtKB:Q5TKA1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein lin-9 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5TKA1-2", "PR:Q5TKA1-2", "ENSEMBL:ENSP00000329102", "ENSEMBL:ENSP00000329102.5"], "information_content": 100.0}
{"id": "UniProtKB:O14599", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "VCY2_HUMAN Testis-specific basic protein Y 2 (sprot)", "equivalent_identifiers": ["UniProtKB:O14599", "PR:O14599", "ENSEMBL:ENSP00000329106", "ENSEMBL:ENSP00000329106.3", "ENSEMBL:ENSP00000371724", "ENSEMBL:ENSP00000371724.1", "ENSEMBL:ENSP00000371829", "ENSEMBL:ENSP00000371829.1", "ENSEMBL:ENSP00000372028", "ENSEMBL:ENSP00000372028.1", "ENSEMBL:ENSP00000480184", "ENSEMBL:ENSP00000480184.1", "ENSEMBL:ENSP00000480751", "ENSEMBL:ENSP00000480751.1"], "information_content": 100.0}
{"id": "UniProtKB:P24723-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein kinase C eta type isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P24723-1", "PR:P24723-1", "ENSEMBL:ENSP00000329127", "ENSEMBL:ENSP00000329127.5"], "information_content": 100.0}
{"id": "NCBIGene:388581", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1QTNF12", "equivalent_identifiers": ["NCBIGene:388581", "ENSEMBL:ENSG00000184163", "HGNC:32308", "OMIM:616593", "UMLS:C1823201", "UniProtKB:Q5T7M4", "PR:Q5T7M4", "ENSEMBL:ENSP00000329137", "ENSEMBL:ENSP00000329137.2", "UMLS:C3711447", "MESH:C584654"], "information_content": 100.0}
{"id": "UniProtKB:Q70SY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic AMP-responsive element-binding protein 3-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q70SY1-1", "PR:Q70SY1-1", "ENSEMBL:ENSP00000329140", "ENSEMBL:ENSP00000329140.6"], "information_content": 100.0}
{"id": "UniProtKB:P58418-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "clarin-1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P58418-4", "PR:P58418-4", "ENSEMBL:ENSP00000329158", "ENSEMBL:ENSP00000329158.4"], "information_content": 100.0}
{"id": "MONDO:0010911", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prolactinoma", "equivalent_identifiers": ["MONDO:0010911", "DOID:5394", "OMIM:600634", "orphanet:2965", "EFO:1000496", "UMLS:C0033375", "MESH:D015175", "MEDDRA:10036832", "NCIT:C3342", "SNOMEDCT:134209002", "SNOMEDCT:34337008", "medgen:10936", "HP:0006767"], "information_content": 89.4}
{"id": "UniProtKB:O76013-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin, type I cuticular Ha6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O76013-1", "PR:O76013-1", "ENSEMBL:ENSP00000329165", "ENSEMBL:ENSP00000329165.6"], "information_content": 100.0}
{"id": "UniProtKB:P20265-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POU domain, class 3, transcription factor 2 isoform hN-OCT 3 (human)", "equivalent_identifiers": ["UniProtKB:P20265-1", "PR:P20265-1", "ENSEMBL:ENSP00000329170", "ENSEMBL:ENSP00000329170.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96MF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH3 and cysteine-rich domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MF2-1", "PR:Q96MF2-1", "ENSEMBL:ENSP00000329200", "ENSEMBL:ENSP00000329200.2"], "information_content": 100.0}
{"id": "UniProtKB:O15304-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptosis regulatory protein Siva isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15304-1", "PR:O15304-1", "ENSEMBL:ENSP00000329213", "ENSEMBL:ENSP00000329213.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDV1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDV1-1", "PR:Q8NDV1-1", "ENSEMBL:ENSP00000329214", "ENSEMBL:ENSP00000329214.3"], "information_content": 100.0}
{"id": "UniProtKB:O95466-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "formin-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95466-1", "PR:O95466-1", "ENSEMBL:ENSP00000329219", "ENSEMBL:ENSP00000329219.2"], "information_content": 100.0}
{"id": "NCBIGene:3855", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT7", "equivalent_identifiers": ["NCBIGene:3855", "ENSEMBL:ENSG00000135480", "HGNC:6445", "OMIM:148059", "UMLS:C1416745", "UniProtKB:P08729", "PR:P08729", "ENSEMBL:ENSP00000329243", "ENSEMBL:ENSP00000329243.5", "UMLS:C1667781", "UMLS:C3272783", "MESH:C507497"], "information_content": 92.8}
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{"id": "NCBIGene:200504", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GKN2", "equivalent_identifiers": ["NCBIGene:200504", "ENSEMBL:ENSG00000183607", "HGNC:24588", "OMIM:618589", "UMLS:C2239494", "UniProtKB:Q86XP6", "PR:Q86XP6", "ENSEMBL:ENSP00000329292", "ENSEMBL:ENSP00000329292.4", "UMLS:C1610287", "MESH:C503073"], "information_content": 95.4}
{"id": "NCBIGene:11248", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NXPH3", "equivalent_identifiers": ["NCBIGene:11248", "ENSEMBL:ENSG00000182575", "HGNC:8077", "OMIM:604636", "UMLS:C1417904", "UniProtKB:O95157", "PR:O95157", "ENSEMBL:ENSP00000329295", "ENSEMBL:ENSP00000329295.6", "UMLS:C1608806"], "information_content": 95.4}
{"id": "UniProtKB:P15814-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "immunoglobulin lambda-like polypeptide 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P15814-1", "PR:P15814-1", "ENSEMBL:ENSP00000329312", "ENSEMBL:ENSP00000329312.2"], "information_content": 100.0}
{"id": "MONDO:0001902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital agammaglobulinemia", "equivalent_identifiers": ["MONDO:0001902", "DOID:14177", "UMLS:C1457897", "UMLS:C5574711", "MEDDRA:10010509", "MEDDRA:10060747", "MEDDRA:10071120", "MEDDRA:10071133", "SNOMEDCT:116133005", "SNOMEDCT:267460002", "medgen:1806025", "ICD9:279.04"], "information_content": 92.8}
{"id": "UniProtKB:Q9BXQ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 121B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXQ6-1", "PR:Q9BXQ6-1", "ENSEMBL:ENSP00000329318", "ENSEMBL:ENSP00000329318.3"], "information_content": 100.0}
{"id": "UniProtKB:P08047-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor Sp1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P08047-1", "PR:P08047-1", "ENSEMBL:ENSP00000329357", "ENSEMBL:ENSP00000329357.4"], "information_content": 84.8}
{"id": "NCBIGene:339230", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC137", "equivalent_identifiers": ["NCBIGene:339230", "ENSEMBL:ENSG00000185298", "HGNC:33451", "OMIM:614271", "UMLS:C2240342", "UniProtKB:Q6PK04", "PR:Q6PK04", "ENSEMBL:ENSP00000329360", "ENSEMBL:ENSP00000329360.8", "ENSEMBL:ENSP00000458884", "ENSEMBL:ENSP00000458884.1", "UMLS:C5771941", "MESH:C000726242"], "information_content": 100.0}
{"id": "MONDO:0008379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 10", "equivalent_identifiers": ["MONDO:0008379", "DOID:0110388", "OMIM:180105", "UMLS:C1867299", "MESH:C566715", "medgen:357247"], "information_content": 100.0}
{"id": "NCBIGene:6906", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINA7", "equivalent_identifiers": ["NCBIGene:6906", "ENSEMBL:ENSG00000123561", "HGNC:11583", "OMIM:314200", "UMLS:C1420598", "UniProtKB:P05543", "PR:P05543", "ENSEMBL:ENSP00000329374", "ENSEMBL:ENSP00000329374.4", "ENSEMBL:ENSP00000361644", "ENSEMBL:ENSP00000361644.1", "UMLS:C2713677", "MESH:C534944"], "information_content": 86.3}
{"id": "MONDO:0000627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign endocrine neoplasm", "equivalent_identifiers": ["MONDO:0000627", "DOID:0060089", "UMLS:C0347524", "MEDDRA:10004252", "MEDDRA:10004322", "MEDDRA:10014710", "MEDDRA:10060994", "NCIT:C4621", "SNOMEDCT:253004003", "SNOMEDCT:92085000", "medgen:87577"], "information_content": 72.9}
{"id": "NCBIGene:2811", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GP1BA", "equivalent_identifiers": ["NCBIGene:2811", "ENSEMBL:ENSG00000185245", "HGNC:4439", "OMIM:606672", "UMLS:C1415186", "UniProtKB:L7UYB8", "UniProtKB:P07359", "PR:P07359", "ENSEMBL:ENSP00000329380", "ENSEMBL:ENSP00000329380.5", "UMLS:C1454968"], "information_content": 75.7}
{"id": "MONDO:0012848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 6", "equivalent_identifiers": ["MONDO:0012848", "DOID:0070120", "OMIM:612284", "UMLS:C2676790", "MESH:C567365", "medgen:382942"], "information_content": 100.0}
{"id": "NCBIGene:5121", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCP4", "equivalent_identifiers": ["NCBIGene:5121", "ENSEMBL:ENSG00000183036", "HGNC:8742", "OMIM:601629", "UMLS:C1418387", "UniProtKB:P48539", "PR:P48539", "ENSEMBL:ENSP00000329403", "ENSEMBL:ENSP00000329403.5", "ENSEMBL:ENSP00000517069", "ENSEMBL:ENSP00000517069.1", "UMLS:C1451572", "MESH:C050394"], "information_content": 95.4}
{"id": "UniProtKB:P35606-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coatomer subunit beta' isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35606-1", "PR:P35606-1", "ENSEMBL:ENSP00000329419", "ENSEMBL:ENSP00000329419.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQT8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial 2-oxodicarboxylate carrier isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQT8-1", "PR:Q9BQT8-1", "ENSEMBL:ENSP00000329452", "ENSEMBL:ENSP00000329452.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRC8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NAD-dependent protein deacetylase sirtuin-7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRC8-1", "PR:Q9NRC8-1", "ENSEMBL:ENSP00000329466", "ENSEMBL:ENSP00000329466.6"], "information_content": 100.0}
{"id": "UniProtKB:P24390-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ER lumen protein-retaining receptor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P24390-1", "PR:P24390-1", "ENSEMBL:ENSP00000329471", "ENSEMBL:ENSP00000329471.2"], "information_content": 100.0}
{"id": "MONDO:0012563", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 9", "equivalent_identifiers": ["MONDO:0012563", "DOID:0110873", "OMIM:610829", "UMLS:C1835819", "MESH:C563659", "medgen:324369"], "information_content": 100.0}
{"id": "NCBIGene:100528020", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM187A", "equivalent_identifiers": ["NCBIGene:100528020", "ENSEMBL:ENSG00000214447", "HGNC:35153", "UMLS:C2681522", "UniProtKB:A6NFU0", "PR:A6NFU0", "ENSEMBL:ENSP00000329499", "ENSEMBL:ENSP00000329499.4"], "information_content": 100.0}
{"id": "NCBIGene:10871", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD300C", "equivalent_identifiers": ["NCBIGene:10871", "ENSEMBL:ENSG00000167850", "HGNC:19320", "OMIM:606786", "UMLS:C1540295", "UniProtKB:Q08708", "PR:Q08708", "ENSEMBL:ENSP00000329507", "ENSEMBL:ENSP00000329507.1", "ENSEMBL:ENSP00000517558", "ENSEMBL:ENSP00000517558.1", "UMLS:C1100676", "MESH:C444139"], "information_content": 84.8}
{"id": "NCBIGene:388333", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPDYE4", "equivalent_identifiers": ["NCBIGene:388333", "ENSEMBL:ENSG00000183318", "HGNC:35463", "OMIM:617628", "UMLS:C2680440", "UniProtKB:A6NLX3", "PR:A6NLX3", "ENSEMBL:ENSP00000329522", "ENSEMBL:ENSP00000329522.6", "ENSEMBL:ENSP00000509506", "ENSEMBL:ENSP00000509506.1", "ENSEMBL:ENSP00000510287", "ENSEMBL:ENSP00000510287.1"], "information_content": 100.0}
{"id": "NCBIGene:286753", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRARG1", "equivalent_identifiers": ["NCBIGene:286753", "ENSEMBL:ENSG00000184811", "HGNC:29592", "OMIM:612211", "UMLS:C1540132", "UniProtKB:Q8IXB3", "PR:Q8IXB3", "ENSEMBL:ENSP00000329548", "ENSEMBL:ENSP00000329548.3", "UMLS:C2001847", "MESH:C524856"], "information_content": 100.0}
{"id": "MONDO:0012591", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 5", "equivalent_identifiers": ["MONDO:0012591", "DOID:0110344", "OMIM:610967", "orphanet:216828", "UMLS:C2931093", "MESH:C567042", "SNOMEDCT:1003379004", "medgen:419332", "icd11.foundation:1718903422"], "information_content": 100.0}
{"id": "MONDO:0017615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign familial infantile epilepsy", "equivalent_identifiers": ["MONDO:0017615", "DOID:0060169", "OMIM.PS:601764", "orphanet:306", "UMLS:C5575231", "NCIT:C183308", "SNOMEDCT:1237571004", "SNOMEDCT:230410004", "medgen:1806836", "icd11.foundation:1944845279"], "information_content": 88.2}
{"id": "UniProtKB:Q8TAA5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GrpE protein homolog 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAA5-1", "PR:Q8TAA5-1", "ENSEMBL:ENSP00000329558", "ENSEMBL:ENSP00000329558.3"], "information_content": 100.0}
{"id": "UniProtKB:A6NKU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "speedy protein E3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NKU9-1", "PR:A6NKU9-1", "ENSEMBL:ENSP00000329565", "ENSEMBL:ENSP00000329565.6"], "information_content": 100.0}
{"id": "MONDO:0012321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Alzheimer disease 10", "equivalent_identifiers": ["MONDO:0012321", "DOID:0110043", "OMIM:609636", "UMLS:C1864828", "MESH:C566465", "medgen:351228"], "information_content": 100.0}
{"id": "NCBIGene:161753", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIMAP1C", "equivalent_identifiers": ["NCBIGene:161753", "ENSEMBL:ENSG00000182950", "HGNC:28735", "UMLS:C1538509", "UniProtKB:Q8IXM7", "PR:Q8IXM7", "ENSEMBL:ENSP00000329584", "ENSEMBL:ENSP00000329584.2"], "information_content": 100.0}
{"id": "UniProtKB:P58557-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endoribonuclease YbeY isoform A (human)", "equivalent_identifiers": ["UniProtKB:P58557-1", "PR:P58557-1", "ENSEMBL:ENSP00000329614", "ENSEMBL:ENSP00000329614.3", "ENSEMBL:ENSP00000380805", "ENSEMBL:ENSP00000380805.1", "ENSEMBL:ENSP00000380813", "ENSEMBL:ENSP00000380813.4"], "information_content": 100.0}
{"id": "MONDO:0011552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "schizophrenia 10", "equivalent_identifiers": ["MONDO:0011552", "DOID:0070086", "OMIM:605419", "UMLS:C0036344", "UMLS:C0543918", "MESH:D012560", "MEDDRA:10007780", "MEDDRA:10007782", "MEDDRA:10039637", "NCIT:C35003", "SNOMEDCT:191542003", "medgen:107776"], "information_content": 100.0}
{"id": "NCBIGene:219578", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF804B", "equivalent_identifiers": ["NCBIGene:219578", "ENSEMBL:ENSG00000182348", "HGNC:21958", "UMLS:C1824070", "UniProtKB:A4D1E1", "PR:A4D1E1", "ENSEMBL:ENSP00000329638", "ENSEMBL:ENSP00000329638.4"], "information_content": 100.0}
{"id": "NCBIGene:64409", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GALNT17", "equivalent_identifiers": ["NCBIGene:64409", "ENSEMBL:ENSG00000185274", "HGNC:16347", "OMIM:615137", "UMLS:C1424206", "UniProtKB:Q2L4S5", "UniProtKB:Q6IS24", "PR:Q6IS24", "ENSEMBL:ENSP00000329654", "ENSEMBL:ENSP00000329654.5"], "information_content": 92.8}
{"id": "NCBIGene:8971", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H1-10", "equivalent_identifiers": ["NCBIGene:8971", "ENSEMBL:ENSG00000184897", "HGNC:4722", "OMIM:602785", "UMLS:C5203085", "UniProtKB:Q92522", "PR:Q92522", "ENSEMBL:ENSP00000329662", "ENSEMBL:ENSP00000329662.4", "UMLS:C2003362", "UMLS:C5203086", "MESH:C525594"], "information_content": 92.8}
{"id": "UniProtKB:Q6S5L8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SHC-transforming protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6S5L8-1", "PR:Q6S5L8-1", "ENSEMBL:ENSP00000329668", "ENSEMBL:ENSP00000329668.4"], "information_content": 100.0}
{"id": "NCBIGene:8811", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GALR2", "equivalent_identifiers": ["NCBIGene:8811", "ENSEMBL:ENSG00000182687", "HGNC:4133", "OMIM:603691", "UMLS:C1333658", "UniProtKB:O43603", "PR:O43603", "ENSEMBL:ENSP00000329684", "ENSEMBL:ENSP00000329684.3", "UMLS:C4082588"], "information_content": 100.0}
{"id": "UniProtKB:O43688-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid phosphatase 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O43688-2", "PR:O43688-2", "ENSEMBL:ENSP00000329697", "ENSEMBL:ENSP00000329697.1"], "information_content": 100.0}
{"id": "NCBIGene:4733", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRG1", "equivalent_identifiers": ["NCBIGene:4733", "ENSEMBL:ENSG00000185721", "HGNC:3029", "OMIM:603952", "UMLS:C1414151", "UniProtKB:Q9Y295", "PR:Q9Y295", "ENSEMBL:ENSP00000329715", "ENSEMBL:ENSP00000329715.4", "UMLS:C0905573"], "information_content": 86.3}
{"id": "UniProtKB:Q86YQ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "copine-8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YQ8-1", "PR:Q86YQ8-1", "ENSEMBL:ENSP00000329748", "ENSEMBL:ENSP00000329748.5"], "information_content": 100.0}
{"id": "NCBIGene:527", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP6V0C", "equivalent_identifiers": ["NCBIGene:527", "ENSEMBL:ENSG00000185883", "HGNC:855", "OMIM:108745", "UMLS:C1412675", "UniProtKB:P27449", "PR:P27449", "ENSEMBL:ENSP00000329757", "ENSEMBL:ENSP00000329757.4", "UMLS:C2716528", "MESH:C541389"], "information_content": 90.9}
{"id": "UniProtKB:Q03923-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 85 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q03923-1", "PR:Q03923-1", "ENSEMBL:ENSP00000329793", "ENSEMBL:ENSP00000329793.7", "ENSEMBL:ENSP00000483118", "ENSEMBL:ENSP00000483118.1"], "information_content": 100.0}
{"id": "NCBIGene:56849", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCEAL7", "equivalent_identifiers": ["NCBIGene:56849", "ENSEMBL:ENSG00000182916", "HGNC:28336", "OMIM:300771", "UMLS:C1539945", "UniProtKB:Q9BRU2", "PR:Q9BRU2", "ENSEMBL:ENSP00000329794", "ENSEMBL:ENSP00000329794.4", "ENSEMBL:ENSP00000361751", "ENSEMBL:ENSP00000361751.1", "UMLS:C1619940", "MESH:C503109"], "information_content": 100.0}
{"id": "UniProtKB:Q9BY67-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell adhesion molecule 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY67-3", "PR:Q9BY67-3", "ENSEMBL:ENSP00000329797", "ENSEMBL:ENSP00000329797.6"], "information_content": 100.0}
{"id": "NCBIGene:326340", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZAR1", "equivalent_identifiers": ["NCBIGene:326340", "ENSEMBL:ENSG00000182223", "HGNC:20436", "OMIM:607520", "UMLS:C1426934", "UniProtKB:B9EG67", "UniProtKB:Q86SH2", "PR:Q86SH2", "ENSEMBL:ENSP00000329803", "ENSEMBL:ENSP00000329803.4"], "information_content": 100.0}
{"id": "NCBIGene:50614", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GALNT9", "equivalent_identifiers": ["NCBIGene:50614", "ENSEMBL:ENSG00000182870", "HGNC:4131", "OMIM:606251", "UMLS:C1414959", "UniProtKB:J3KNN1", "ENSEMBL:ENSP00000329846", "ENSEMBL:ENSP00000329846.8", "ENSEMBL:ENSP00000500791", "ENSEMBL:ENSP00000500791.1", "UMLS:C3657592", "MESH:C580736", "UniProtKB:Q9HCQ5", "PR:Q9HCQ5"]}
{"id": "NCBIGene:374355", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC172", "equivalent_identifiers": ["NCBIGene:374355", "ENSEMBL:ENSG00000182645", "HGNC:30524", "UMLS:C1428979", "UniProtKB:P0C7W6", "PR:P0C7W6", "ENSEMBL:ENSP00000329860", "ENSEMBL:ENSP00000329860.3"], "information_content": 100.0}
{"id": "MONDO:0007710", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial hemiatrophy", "equivalent_identifiers": ["MONDO:0007710", "DOID:1757", "OMIM:141300", "orphanet:1214", "UMLS:C0015458", "MESH:D005150", "MEDDRA:10053874", "MEDDRA:10053918", "MEDDRA:10073006", "NCIT:C116916", "NCIT:C84703", "SNOMEDCT:718224004", "SNOMEDCT:95834000", "medgen:8761", "HP:0011331"], "information_content": 100.0}
{"id": "UniProtKB:P07202-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thyroid peroxidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P07202-1", "PR:P07202-1", "ENSEMBL:ENSP00000318820", "ENSEMBL:ENSP00000318820.7", "ENSEMBL:ENSP00000329869", "ENSEMBL:ENSP00000329869.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0D0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatase and actin regulator 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0D0-1", "PR:Q9C0D0-1", "ENSEMBL:ENSP00000329880", "ENSEMBL:ENSP00000329880.8", "ENSEMBL:ENSP00000501634", "ENSEMBL:ENSP00000501634.1", "ENSEMBL:ENSP00000501921", "ENSEMBL:ENSP00000501921.1"], "information_content": 100.0}
{"id": "NCBIGene:1670", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFA5", "equivalent_identifiers": ["NCBIGene:1670", "ENSEMBL:ENSG00000164816", "HGNC:2764", "OMIM:600472", "UMLS:C1413976", "UniProtKB:Q01523", "PR:Q01523", "ENSEMBL:ENSP00000329890", "ENSEMBL:ENSP00000329890.2", "ENSEMBL:ENSP00000494799", "ENSEMBL:ENSP00000494799.1", "UMLS:C1568753", "MESH:C500225"], "information_content": 92.8}
{"id": "UniProtKB:O95456-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome assembly chaperone 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95456-1", "PR:O95456-1", "ENSEMBL:ENSP00000329915", "ENSEMBL:ENSP00000329915.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZN04-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein MEX3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZN04-1", "PR:Q6ZN04-1", "ENSEMBL:ENSP00000329918", "ENSEMBL:ENSP00000329918.4"], "information_content": 100.0}
{"id": "NCBIGene:255022", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CALHM1", "equivalent_identifiers": ["NCBIGene:255022", "ENSEMBL:ENSG00000185933", "HGNC:23494", "OMIM:612234", "UMLS:C1539418", "UniProtKB:Q8IU99", "PR:Q8IU99", "ENSEMBL:ENSP00000329926", "ENSEMBL:ENSP00000329926.6", "UMLS:C2355039", "MESH:C530077"], "information_content": 100.0}
{"id": "NCBIGene:654346", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LGALS9C", "equivalent_identifiers": ["NCBIGene:654346", "ENSEMBL:ENSG00000171916", "HGNC:33874", "UMLS:C2681644", "UniProtKB:J3KSY2", "ENSEMBL:ENSP00000462708", "ENSEMBL:ENSP00000462708.1", "ENSEMBL:ENSP00000492141", "ENSEMBL:ENSP00000492141.1", "UniProtKB:Q6DKI2", "PR:Q6DKI2", "ENSEMBL:ENSP00000329932", "ENSEMBL:ENSP00000329932.6", "ENSEMBL:ENSP00000491587", "ENSEMBL:ENSP00000491587.1"], "information_content": 95.4}
{"id": "UniProtKB:Q96QT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PHD finger protein 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QT6-1", "PR:Q96QT6-1", "ENSEMBL:ENSP00000329933", "ENSEMBL:ENSP00000329933.4"], "information_content": 100.0}
{"id": "UniProtKB:Q1X8D7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 36 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q1X8D7-1", "PR:Q1X8D7-1", "ENSEMBL:ENSP00000329943", "ENSEMBL:ENSP00000329943.6"], "information_content": 100.0}
{"id": "NCBIGene:29110", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBK1", "equivalent_identifiers": ["NCBIGene:29110", "ENSEMBL:ENSG00000183735", "HGNC:11584", "OMIM:604834", "UMLS:C1336579", "UniProtKB:Q9UHD2", "PR:Q9UHD2", "ENSEMBL:ENSP00000329967", "ENSEMBL:ENSP00000329967.5", "ENSEMBL:ENSP00000498995", "ENSEMBL:ENSP00000498995.1", "UMLS:C1449326", "MESH:C403191"], "information_content": 84.8}
{"id": "UniProtKB:Q6IEY1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "OR4F3_HUMAN Olfactory receptor 4F3/4F16/4F29 (sprot)", "equivalent_identifiers": ["UniProtKB:Q6IEY1", "PR:Q6IEY1", "ENSEMBL:ENSP00000329982", "ENSEMBL:ENSP00000329982.2", "ENSEMBL:ENSP00000394282", "ENSEMBL:ENSP00000394282.1", "ENSEMBL:ENSP00000409316", "ENSEMBL:ENSP00000409316.1"], "information_content": 100.0}
{"id": "MONDO:0032648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations", "equivalent_identifiers": ["MONDO:0032648", "DOID:0111403", "OMIM:618273", "UMLS:C4748927", "medgen:1648439"], "information_content": 100.0}
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{"id": "NCBIGene:121006", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM186A", "equivalent_identifiers": ["NCBIGene:121006", "ENSEMBL:ENSG00000185958", "HGNC:26980", "UMLS:C2681521", "UniProtKB:A6NE01", "PR:A6NE01", "ENSEMBL:ENSP00000329995", "ENSEMBL:ENSP00000329995.5"], "information_content": 100.0}
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{"id": "UniProtKB:Q16831-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uridine phosphorylase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16831-1", "PR:Q16831-1", "ENSEMBL:ENSP00000330032", "ENSEMBL:ENSP00000330032.4", "ENSEMBL:ENSP00000378931", "ENSEMBL:ENSP00000378931.4"], "information_content": 100.0}
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{"id": "MONDO:0009672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal muscular atrophy, type III", "equivalent_identifiers": ["MONDO:0009672", "DOID:12376", "OMIM:253400", "orphanet:83419", "UMLS:C0152109", "MEDDRA:10023494", "MEDDRA:10079415", "NCIT:C118847", "SNOMEDCT:54280009", "medgen:101816", "icd11.foundation:677572815", "ICD9:335.11"], "information_content": 100.0}
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{"id": "NCBIGene:3009", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H1-5", "equivalent_identifiers": ["NCBIGene:3009", "ENSEMBL:ENSG00000184357", "HGNC:4719", "OMIM:142711", "UMLS:C1415389", "UniProtKB:P16401", "PR:P16401", "ENSEMBL:ENSP00000330074", "ENSEMBL:ENSP00000330074.4", "UMLS:C1307976", "UMLS:C5202968", "MESH:C104345"], "information_content": 83.6}
{"id": "UniProtKB:Q6PK18-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6PK18-2", "PR:Q6PK18-2", "ENSEMBL:ENSP00000330075", "ENSEMBL:ENSP00000330075.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8N531-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/LRR-repeat protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N531-1", "PR:Q8N531-1", "ENSEMBL:ENSP00000330098", "ENSEMBL:ENSP00000330098.5", "ENSEMBL:ENSP00000495082", "ENSEMBL:ENSP00000495082.1"], "information_content": 100.0}
{"id": "NCBIGene:51350", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT76", "equivalent_identifiers": ["NCBIGene:51350", "ENSEMBL:ENSG00000185069", "HGNC:24430", "OMIM:616671", "UMLS:C1825764", "UniProtKB:Q01546", "PR:Q01546", "ENSEMBL:ENSP00000330101", "ENSEMBL:ENSP00000330101.2", "UMLS:C3849281", "MESH:C587433"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULK0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor ionotropic, delta-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULK0-1", "PR:Q9ULK0-1", "ENSEMBL:ENSP00000330148", "ENSEMBL:ENSP00000330148.7"], "information_content": 100.0}
{"id": "NCBIGene:388662", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC6A17", "equivalent_identifiers": ["NCBIGene:388662", "ENSEMBL:ENSG00000197106", "HGNC:31399", "OMIM:610299", "UMLS:C1429203", "UniProtKB:Q9H1V8", "PR:Q9H1V8", "ENSEMBL:ENSP00000330199", "ENSEMBL:ENSP00000330199.3", "UMLS:C4044331", "MESH:C000597609"], "information_content": 95.4}
{"id": "DOID:0111368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholesterol-ester transfer protein deficiency", "equivalent_identifiers": ["DOID:0111368"]}
{"id": "MONDO:0002470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "photosensitive trichothiodystrophy", "equivalent_identifiers": ["MONDO:0002470", "DOID:2960", "UMLS:C1848412", "MESH:C564733", "medgen:336339"], "information_content": 90.9}
{"id": "UniProtKB:Q6UXG8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "butyrophilin-like protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXG8-1", "PR:Q6UXG8-1", "ENSEMBL:ENSP00000330200", "ENSEMBL:ENSP00000330200.9"], "information_content": 100.0}
{"id": "NCBIGene:6656", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOX1", "equivalent_identifiers": ["NCBIGene:6656", "ENSEMBL:ENSG00000182968", "HGNC:11189", "OMIM:602148", "UMLS:C1420316", "UniProtKB:O00570", "PR:O00570", "ENSEMBL:ENSP00000330218", "ENSEMBL:ENSP00000330218.1", "UMLS:C1455077", "MESH:C490906"], "information_content": 95.4}
{"id": "NCBIGene:80176", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPSB1", "equivalent_identifiers": ["NCBIGene:80176", "ENSEMBL:ENSG00000171621", "HGNC:30628", "OMIM:611657", "UMLS:C1823117", "UniProtKB:Q96BD6", "PR:Q96BD6", "ENSEMBL:ENSP00000330221", "ENSEMBL:ENSP00000330221.6", "ENSEMBL:ENSP00000350573", "ENSEMBL:ENSP00000350573.3", "ENSEMBL:ENSP00000366616", "ENSEMBL:ENSP00000366616.2", "UMLS:C4077159", "MESH:C000602043"], "information_content": 95.4}
{"id": "MONDO:0013835", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7", "equivalent_identifiers": ["MONDO:0013835", "DOID:0111234", "OMIM:614643", "UMLS:C3553330", "medgen:766244"], "information_content": 100.0}
{"id": "UniProtKB:P55211-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase-9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P55211-1", "PR:P55211-1", "ENSEMBL:ENSP00000330237", "ENSEMBL:ENSP00000330237.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96HJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 34 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HJ3-1", "PR:Q96HJ3-1", "ENSEMBL:ENSP00000330240", "ENSEMBL:ENSP00000330240.5"], "information_content": 100.0}
{"id": "UniProtKB:Q86SZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trafficking protein particle complex subunit 6B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86SZ2-1", "PR:Q86SZ2-1", "ENSEMBL:ENSP00000330289", "ENSEMBL:ENSP00000330289.5"], "information_content": 100.0}
{"id": "NCBIGene:338751", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52L1", "equivalent_identifiers": ["NCBIGene:338751", "ENSEMBL:ENSG00000183313", "HGNC:14785", "UMLS:C1422932", "UniProtKB:Q8NGH7", "PR:Q8NGH7", "ENSEMBL:ENSP00000330338", "ENSEMBL:ENSP00000330338.4"], "information_content": 100.0}
{"id": "NCBIGene:9021", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOCS3", "equivalent_identifiers": ["NCBIGene:9021", "ENSEMBL:ENSG00000184557", "HGNC:19391", "OMIM:604176", "UMLS:C1426212", "UniProtKB:O14543", "PR:O14543", "ENSEMBL:ENSP00000330341", "ENSEMBL:ENSP00000330341.2", "UMLS:C1434775", "UMLS:C3275257", "MESH:C106644", "UniProtKB:Q6FI39"], "information_content": 95.4}
{"id": "NCBIGene:51428", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX41", "equivalent_identifiers": ["NCBIGene:51428", "ENSEMBL:ENSG00000183258", "HGNC:18674", "OMIM:608170", "UMLS:C1425698", "UniProtKB:B3KRK2", "UMLS:C1570040", "MESH:C501226", "UniProtKB:Q9UJV9", "PR:Q9UJV9", "ENSEMBL:ENSP00000330349", "ENSEMBL:ENSP00000330349.8", "UMLS:C4723705"], "information_content": 86.3}
{"id": "UniProtKB:P01127-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "platelet-derived growth factor subunit B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P01127-1", "PR:P01127-1", "ENSEMBL:ENSP00000330382", "ENSEMBL:ENSP00000330382.6"], "information_content": 100.0}
{"id": "NCBIGene:391356", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTRHD1", "equivalent_identifiers": ["NCBIGene:391356", "ENSEMBL:ENSG00000184924", "HGNC:33782", "OMIM:617342", "UMLS:C2681204", "UniProtKB:Q6GMV3", "PR:Q6GMV3", "ENSEMBL:ENSP00000330389", "ENSEMBL:ENSP00000330389.4"], "information_content": 95.4}
{"id": "MONDO:0018808", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Caroli syndrome", "equivalent_identifiers": ["MONDO:0018808", "DOID:0081394", "orphanet:480520", "UMLS:C5700203", "MEDDRA:10007672", "SNOMEDCT:1237346001", "medgen:1814547"], "information_content": 100.0}
{"id": "NCBIGene:6707", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPRR3", "equivalent_identifiers": ["NCBIGene:6707", "ENSEMBL:ENSG00000163209", "HGNC:11268", "OMIM:182271", "UMLS:C1420381", "UniProtKB:Q9UBC9", "PR:Q9UBC9", "ENSEMBL:ENSP00000295367", "ENSEMBL:ENSP00000295367.4", "ENSEMBL:ENSP00000330391", "ENSEMBL:ENSP00000330391.3", "UMLS:C1308529", "MESH:C112254"], "information_content": 95.4}
{"id": "UniProtKB:P48357-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leptin receptor isoform B (human)", "equivalent_identifiers": ["UniProtKB:P48357-1", "PR:P48357-1", "ENSEMBL:ENSP00000330393", "ENSEMBL:ENSP00000330393.7"], "information_content": 92.8}
{"id": "NCBIGene:390664", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1QTNF8", "equivalent_identifiers": ["NCBIGene:390664", "ENSEMBL:ENSG00000184471", "HGNC:31374", "OMIM:614147", "UMLS:C1429194", "UniProtKB:A0A3B0IWW5", "UMLS:C2744329", "MESH:C543616", "UniProtKB:P60827", "PR:P60827", "ENSEMBL:ENSP00000330426", "ENSEMBL:ENSP00000330426.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEG4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM83F isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEG4-1", "PR:Q8NEG4-1", "ENSEMBL:ENSP00000330432", "ENSEMBL:ENSP00000330432.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRN9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TM2 domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRN9-1", "PR:Q9BRN9-1", "ENSEMBL:ENSP00000330433", "ENSEMBL:ENSP00000330433.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6P1J6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipase B1, membrane-associated isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P1J6-1", "PR:Q6P1J6-1", "ENSEMBL:ENSP00000330442", "ENSEMBL:ENSP00000330442.5"], "information_content": 100.0}
{"id": "UniProtKB:Q5T1V6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable ATP-dependent RNA helicase DDX59 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T1V6-1", "PR:Q5T1V6-1", "ENSEMBL:ENSP00000330460", "ENSEMBL:ENSP00000330460.6"], "information_content": 100.0}
{"id": "NCBIGene:132724", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMPRSS11B", "equivalent_identifiers": ["NCBIGene:132724", "ENSEMBL:ENSG00000185873", "HGNC:25398", "UMLS:C1540025", "UniProtKB:Q86T26", "PR:Q86T26", "ENSEMBL:ENSP00000330475", "ENSEMBL:ENSP00000330475.5"], "information_content": 100.0}
{"id": "UniProtKB:P0DTE7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AMY1B_HUMAN Alpha-amylase 1B (sprot)", "equivalent_identifiers": ["UniProtKB:P0DTE7", "PR:P0DTE7", "ENSEMBL:ENSP00000330484", "ENSEMBL:ENSP00000330484.5", "ENSEMBL:ENSP00000359097", "ENSEMBL:ENSP00000359097.3"], "information_content": 95.4}
{"id": "UniProtKB:Q8TB03-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein CXorf38 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TB03-1", "PR:Q8TB03-1", "ENSEMBL:ENSP00000330488", "ENSEMBL:ENSP00000330488.5"], "information_content": 100.0}
{"id": "MONDO:0850271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myeloid leukemia associated with down syndrome", "equivalent_identifiers": ["MONDO:0850271", "DOID:0080798", "UMLS:C2825149", "NCIT:C43223", "SNOMEDCT:450935006", "SNOMEDCT:724644005", "medgen:416725"], "information_content": 92.8}
{"id": "UniProtKB:Q96CG8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen triple helix repeat-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CG8-1", "PR:Q96CG8-1", "ENSEMBL:ENSP00000330523", "ENSEMBL:ENSP00000330523.5"], "information_content": 100.0}
{"id": "UniProtKB:Q13387-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-Jun-amino-terminal kinase-interacting protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13387-1", "PR:Q13387-1", "ENSEMBL:ENSP00000330572", "ENSEMBL:ENSP00000330572.4"], "information_content": 100.0}
{"id": "NCBIGene:4496", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT1H", "equivalent_identifiers": ["NCBIGene:4496", "ENSEMBL:ENSG00000205358", "HGNC:7400", "OMIM:156354", "UMLS:C1417396", "UniProtKB:A0A140VJP7", "UMLS:C4547337", "MESH:C000625495", "UniProtKB:P80294", "PR:P80294", "ENSEMBL:ENSP00000330587", "ENSEMBL:ENSP00000330587.5"], "information_content": 100.0}
{"id": "NCBIGene:386746", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRGPRG", "equivalent_identifiers": ["NCBIGene:386746", "ENSEMBL:ENSG00000182170", "HGNC:24829", "OMIM:607234", "UMLS:C1428416", "UniProtKB:Q86SM5", "PR:Q86SM5", "ENSEMBL:ENSP00000330612", "ENSEMBL:ENSP00000330612.3"], "information_content": 100.0}
{"id": "MONDO:0012610", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 10", "equivalent_identifiers": ["MONDO:0012610", "DOID:0110885", "OMIM:611081", "UMLS:C1970207", "MESH:C567021", "medgen:370205"], "information_content": 100.0}
{"id": "NCBIGene:146760", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTN4RL1", "equivalent_identifiers": ["NCBIGene:146760", "ENSEMBL:ENSG00000185924", "HGNC:21329", "OMIM:610461", "UMLS:C1427489", "UniProtKB:Q86UN2", "PR:Q86UN2", "ENSEMBL:ENSP00000330631", "ENSEMBL:ENSP00000330631.4", "UMLS:C1258610", "MESH:C474328"], "information_content": 100.0}
{"id": "NCBIGene:6900", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNTN2", "equivalent_identifiers": ["NCBIGene:6900", "ENSEMBL:ENSG00000184144", "HGNC:2172", "OMIM:190197", "UMLS:C1413560", "UniProtKB:A1L3A3", "UMLS:C1437544", "MESH:C548674", "UniProtKB:Q02246", "PR:Q02246", "ENSEMBL:ENSP00000330633", "ENSEMBL:ENSP00000330633.4", "ENSEMBL:ENSP00000491671", "ENSEMBL:ENSP00000491671.1", "ENSEMBL:ENSP00000492495", "ENSEMBL:ENSP00000492495.1", "ENSEMBL:ENSP00000492617", "ENSEMBL:ENSP00000492617.1"], "information_content": 92.8}
{"id": "NCBIGene:5069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAPPA", "equivalent_identifiers": ["NCBIGene:5069", "ENSEMBL:ENSG00000182752", "HGNC:8602", "OMIM:176385", "UMLS:C1442932", "UniProtKB:B4DTA8", "UMLS:C3657764", "MESH:C579283", "UniProtKB:Q13219", "PR:Q13219", "ENSEMBL:ENSP00000330658", "ENSEMBL:ENSP00000330658.3", "UMLS:C2984583", "UniProtKB:Q7Z613"], "information_content": 87.2}
{"id": "MONDO:0006375", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chorioangioma", "equivalent_identifiers": ["MONDO:0006375", "DOID:277", "EFO:1000480", "UMLS:C0677608", "MEDDRA:10056718", "NCIT:C4868", "SNOMEDCT:237268002", "SNOMEDCT:699948001", "medgen:195606", "HP:0100883"], "information_content": 100.0}
{"id": "NCBIGene:56160", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NSMCE3", "equivalent_identifiers": ["NCBIGene:56160", "ENSEMBL:ENSG00000185115", "HGNC:7677", "OMIM:608243", "UMLS:C1417615", "UniProtKB:Q96MG7", "PR:Q96MG7", "ENSEMBL:ENSP00000330694", "ENSEMBL:ENSP00000330694.4", "ENSEMBL:ENSP00000487893", "ENSEMBL:ENSP00000487893.1", "UMLS:C1173120", "MESH:C469927"], "information_content": 100.0}
{"id": "UniProtKB:Q99572-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "P2X purinoceptor 7 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q99572-1", "PR:Q99572-1", "ENSEMBL:ENSP00000330696", "ENSEMBL:ENSP00000330696.6"], "information_content": 100.0}
{"id": "NCBIGene:493753", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COA5", "equivalent_identifiers": ["NCBIGene:493753", "ENSEMBL:ENSG00000183513", "HGNC:33848", "OMIM:613920", "UMLS:C2240258", "UniProtKB:Q86WW8", "PR:Q86WW8", "ENSEMBL:ENSP00000330730", "ENSEMBL:ENSP00000330730.3"], "information_content": 92.8}
{"id": "UniProtKB:Q9UI09-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UI09-1", "PR:Q9UI09-1", "ENSEMBL:ENSP00000330737", "ENSEMBL:ENSP00000330737.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSI6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain and WD repeat-containing protein 1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9NSI6-1", "PR:Q9NSI6-1", "ENSEMBL:ENSP00000330753", "ENSEMBL:ENSP00000330753.2"], "information_content": 100.0}
{"id": "NCBIGene:131149", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTOL1", "equivalent_identifiers": ["NCBIGene:131149", "ENSEMBL:ENSG00000182447", "HGNC:34071", "UMLS:C3148557", "UniProtKB:A6NHN0", "PR:A6NHN0", "ENSEMBL:ENSP00000330808", "ENSEMBL:ENSP00000330808.4"], "information_content": 100.0}
{"id": "NCBIGene:8519", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFITM1", "equivalent_identifiers": ["NCBIGene:8519", "ENSEMBL:ENSG00000185885", "HGNC:5412", "OMIM:604456", "UMLS:C1334078", "UniProtKB:P13164", "PR:P13164", "ENSEMBL:ENSP00000330825", "ENSEMBL:ENSP00000330825.5", "ENSEMBL:ENSP00000386187", "ENSEMBL:ENSP00000386187.3", "ENSEMBL:ENSP00000437057", "ENSEMBL:ENSP00000437057.1", "ENSEMBL:ENSP00000505380", "ENSEMBL:ENSP00000505380.1", "UMLS:C1312248"], "information_content": 89.4}
{"id": "NCBIGene:285971", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF775", "equivalent_identifiers": ["NCBIGene:285971", "ENSEMBL:ENSG00000196456", "HGNC:28501", "UMLS:C1824048", "UniProtKB:Q96BV0", "PR:Q96BV0", "ENSEMBL:ENSP00000330838", "ENSEMBL:ENSP00000330838.5"], "information_content": 100.0}
{"id": "MONDO:0017600", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HCL-V", "equivalent_identifiers": ["MONDO:0017600", "DOID:713", "orphanet:300878", "UMLS:C0349633", "MEDDRA:10019054", "MEDDRA:10019056", "NCIT:C7401", "SNOMEDCT:1187193000", "SNOMEDCT:277568007", "medgen:91160"], "information_content": 92.8}
{"id": "UniProtKB:Q14982-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "opioid-binding protein/cell adhesion molecule isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14982-1", "PR:Q14982-1", "ENSEMBL:ENSP00000330862", "ENSEMBL:ENSP00000330862.7"], "information_content": 100.0}
{"id": "NCBIGene:2188", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FANCF", "equivalent_identifiers": ["NCBIGene:2188", "ENSEMBL:ENSG00000183161", "HGNC:3587", "OMIM:613897", "UMLS:C1414532", "UniProtKB:A3KME0", "UniProtKB:Q9NPI8", "PR:Q9NPI8", "ENSEMBL:ENSP00000330875", "ENSEMBL:ENSP00000330875.3", "UMLS:C0911827", "MESH:C499901"], "information_content": 92.8}
{"id": "NCBIGene:402569", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KPNA7", "equivalent_identifiers": ["NCBIGene:402569", "ENSEMBL:ENSG00000185467", "HGNC:21839", "OMIM:614107", "UMLS:C2681636", "UniProtKB:A9QM74", "PR:A9QM74", "ENSEMBL:ENSP00000330878", "ENSEMBL:ENSP00000330878.6", "ENSEMBL:ENSP00000491331", "ENSEMBL:ENSP00000491331.1", "ENSEMBL:ENSP00000506489", "ENSEMBL:ENSP00000506489.1", "UMLS:C3849184", "MESH:C587929"], "information_content": 95.4}
{"id": "MONDO:0016532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lennox-Gastaut syndrome", "equivalent_identifiers": ["MONDO:0016532", "DOID:0050561", "OMIM:606369", "orphanet:2382", "UMLS:C0238111", "UMLS:C3807541", "MESH:D065768", "MEDDRA:10048816", "NCIT:C84816", "SNOMEDCT:230418006", "medgen:116044", "icd11.foundation:651135242"], "information_content": 90.9}
{"id": "NCBIGene:127068", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2T34", "equivalent_identifiers": ["NCBIGene:127068", "ENSEMBL:ENSG00000183310", "HGNC:31256", "UMLS:C1429112", "UniProtKB:Q8NGX1", "PR:Q8NGX1", "ENSEMBL:ENSP00000330904", "ENSEMBL:ENSP00000330904.2"], "information_content": 100.0}
{"id": "NCBIGene:283871", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGP", "equivalent_identifiers": ["NCBIGene:283871", "ENSEMBL:ENSG00000184207", "HGNC:8909", "OMIM:172280", "UMLS:C1418520", "UniProtKB:A6NDG6", "PR:A6NDG6", "ENSEMBL:ENSP00000330918", "ENSEMBL:ENSP00000330918.7", "UMLS:C3814453", "MESH:C000730136"], "information_content": 87.2}
{"id": "UniProtKB:P27930-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-1 receptor type 2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P27930-1", "PR:P27930-1", "ENSEMBL:ENSP00000330959", "ENSEMBL:ENSP00000330959.3", "ENSEMBL:ENSP00000377066", "ENSEMBL:ENSP00000377066.2"], "information_content": 100.0}
{"id": "NCBIGene:399814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C10orf120", "equivalent_identifiers": ["NCBIGene:399814", "ENSEMBL:ENSG00000183559", "HGNC:25707", "UMLS:C1538420", "UniProtKB:Q5SQS8", "PR:Q5SQS8", "ENSEMBL:ENSP00000331012", "ENSEMBL:ENSP00000331012.4"], "information_content": 100.0}
{"id": "NCBIGene:51065", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS27L", "equivalent_identifiers": ["NCBIGene:51065", "ENSEMBL:ENSG00000185088", "HGNC:18476", "OMIM:612055", "UMLS:C1425541", "UniProtKB:Q71UM5", "PR:Q71UM5", "ENSEMBL:ENSP00000331019", "ENSEMBL:ENSP00000331019.5", "UMLS:C3711325", "MESH:C586073"], "information_content": 92.8}
{"id": "NCBIGene:10215", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OLIG2", "equivalent_identifiers": ["NCBIGene:10215", "ENSEMBL:ENSG00000205927", "HGNC:9398", "OMIM:606386", "UMLS:C1418915", "UniProtKB:Q13516", "PR:Q13516", "ENSEMBL:ENSP00000331040", "ENSEMBL:ENSP00000331040.3", "ENSEMBL:ENSP00000371794", "ENSEMBL:ENSP00000371794.3", "UMLS:C0912988", "MESH:C405708"], "information_content": 95.4}
{"id": "NCBIGene:219670", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ENKUR", "equivalent_identifiers": ["NCBIGene:219670", "ENSEMBL:ENSG00000151023", "HGNC:28388", "OMIM:611025", "UMLS:C1428701", "UniProtKB:A0A087WUX1", "ENSEMBL:ENSP00000478989", "ENSEMBL:ENSP00000478989.1", "UMLS:C1529108", "MESH:C493290", "UniProtKB:Q8TC29", "PR:Q8TC29", "ENSEMBL:ENSP00000331044", "ENSEMBL:ENSP00000331044.4", "ENSEMBL:ENSP00000432930", "ENSEMBL:ENSP00000432930.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IW00-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-set and transmembrane domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IW00-1", "PR:Q8IW00-1", "ENSEMBL:ENSP00000331062", "ENSEMBL:ENSP00000331062.3"], "information_content": 100.0}
{"id": "MONDO:0001660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proliferative diabetic retinopathy", "equivalent_identifiers": ["MONDO:0001660", "DOID:13207", "EFO:0009322", "UMLS:C0154830", "MEDDRA:10036857", "NCIT:C84457", "SNOMEDCT:59276001", "medgen:56347", "icd11.foundation:348602398", "ICD9:362.02"], "information_content": 100.0}
{"id": "NCBIGene:116729", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R27", "equivalent_identifiers": ["NCBIGene:116729", "ENSEMBL:ENSG00000182676", "HGNC:16813", "UMLS:C3471435", "UniProtKB:Q86WC6", "PR:Q86WC6", "ENSEMBL:ENSP00000331065", "ENSEMBL:ENSP00000331065.4", "ENSEMBL:ENSP00000500294", "ENSEMBL:ENSP00000500294.1"], "information_content": 92.8}
{"id": "NCBIGene:146852", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ODF4", "equivalent_identifiers": ["NCBIGene:146852", "ENSEMBL:ENSG00000184650", "HGNC:19056", "OMIM:610097", "UMLS:C1425981", "UniProtKB:C3TX97", "ENSEMBL:ENSP00000461942", "ENSEMBL:ENSP00000461942.1", "UMLS:C1451520", "MESH:C485357", "UniProtKB:Q2M2E3", "PR:Q2M2E3", "ENSEMBL:ENSP00000331086", "ENSEMBL:ENSP00000331086.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5U2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U5 small nuclear ribonucleoprotein TSSC4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5U2-1", "PR:Q9Y5U2-1", "ENSEMBL:ENSP00000331087", "ENSEMBL:ENSP00000331087.6", "ENSEMBL:ENSP00000411224", "ENSEMBL:ENSP00000411224.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHH9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol hexakisphosphate kinase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHH9-1", "PR:Q9UHH9-1", "ENSEMBL:ENSP00000331103", "ENSEMBL:ENSP00000331103.5"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z412-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisome assembly protein 26 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z412-1", "PR:Q7Z412-1", "ENSEMBL:ENSP00000331106", "ENSEMBL:ENSP00000331106.5", "ENSEMBL:ENSP00000382648", "ENSEMBL:ENSP00000382648.4"], "information_content": 100.0}
{"id": "NCBIGene:30834", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR1H", "equivalent_identifiers": ["NCBIGene:30834", "ENSEMBL:ENSG00000066379", "HGNC:13182", "OMIM:607525", "UMLS:C1421863", "UniProtKB:Q2L6J2", "UMLS:C1438879", "MESH:C406241", "UniProtKB:Q9P1U0", "PR:Q9P1U0", "ENSEMBL:ENSP00000331111", "ENSEMBL:ENSP00000331111.5", "ENSEMBL:ENSP00000352333", "ENSEMBL:ENSP00000352333.4", "ENSEMBL:ENSP00000365978", "ENSEMBL:ENSP00000365978.2", "ENSEMBL:ENSP00000365981", "ENSEMBL:ENSP00000365981.2", "ENSEMBL:ENSP00000373108", "ENSEMBL:ENSP00000373108.2", "ENSEMBL:ENSP00000383500", "ENSEMBL:ENSP00000383500.1", "ENSEMBL:ENSP00000383501", "ENSEMBL:ENSP00000383501.3", "ENSEMBL:ENSP00000383503", "ENSEMBL:ENSP00000383503.3", "ENSEMBL:ENSP00000387914", "ENSEMBL:ENSP00000387914.1", "ENSEMBL:ENSP00000391809", "ENSEMBL:ENSP00000391809.2", "ENSEMBL:ENSP00000393236", "ENSEMBL:ENSP00000393236.2", "ENSEMBL:ENSP00000394779", "ENSEMBL:ENSP00000394779.2", "ENSEMBL:ENSP00000395065", "ENSEMBL:ENSP00000395065.1", "ENSEMBL:ENSP00000395397", "ENSEMBL:ENSP00000395397.2", "ENSEMBL:ENSP00000396661", "ENSEMBL:ENSP00000396661.1", "ENSEMBL:ENSP00000396922", "ENSEMBL:ENSP00000396922.1", "ENSEMBL:ENSP00000397636", "ENSEMBL:ENSP00000397636.2", "ENSEMBL:ENSP00000399302", "ENSEMBL:ENSP00000399302.2", "ENSEMBL:ENSP00000399966", "ENSEMBL:ENSP00000399966.2", "ENSEMBL:ENSP00000402198", "ENSEMBL:ENSP00000402198.2", "ENSEMBL:ENSP00000405264", "ENSEMBL:ENSP00000405264.1", "ENSEMBL:ENSP00000405636", "ENSEMBL:ENSP00000405636.1", "ENSEMBL:ENSP00000407364", "ENSEMBL:ENSP00000407364.1", "ENSEMBL:ENSP00000407715", "ENSEMBL:ENSP00000407715.2", "ENSEMBL:ENSP00000410127", "ENSEMBL:ENSP00000410127.2", "ENSEMBL:ENSP00000410530", "ENSEMBL:ENSP00000410530.1", "ENSEMBL:ENSP00000410954", "ENSEMBL:ENSP00000410954.1", "ENSEMBL:ENSP00000412369", "ENSEMBL:ENSP00000412369.1", "ENSEMBL:ENSP00000413265", "ENSEMBL:ENSP00000413265.2", "ENSEMBL:ENSP00000414110", "ENSEMBL:ENSP00000414110.1", "ENSEMBL:ENSP00000414720", "ENSEMBL:ENSP00000414720.2", "ENSEMBL:ENSP00000416599", "ENSEMBL:ENSP00000416599.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9H3K6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BolA-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3K6-1", "PR:Q9H3K6-1", "ENSEMBL:ENSP00000331127", "ENSEMBL:ENSP00000331127.4", "ENSEMBL:ENSP00000498355", "ENSEMBL:ENSP00000498355.1"], "information_content": 100.0}
{"id": "UniProtKB:P50539-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "max-interacting protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P50539-3", "PR:P50539-3", "ENSEMBL:ENSP00000331152", "ENSEMBL:ENSP00000331152.5"], "information_content": 100.0}
{"id": "UniProtKB:P10966-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell surface glycoprotein CD8 beta chain isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P10966-6", "PR:P10966-6", "ENSEMBL:ENSP00000331172", "ENSEMBL:ENSP00000331172.2"], "information_content": 100.0}
{"id": "UniProtKB:O14964-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hepatocyte growth factor-regulated tyrosine kinase substrate isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14964-1", "PR:O14964-1", "ENSEMBL:ENSP00000331201", "ENSEMBL:ENSP00000331201.4", "ENSEMBL:ENSP00000504106", "ENSEMBL:ENSP00000504106.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0W9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ester hydrolase C11orf54 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0W9-1", "PR:Q9H0W9-1", "ENSEMBL:ENSP00000331209", "ENSEMBL:ENSP00000331209.4", "ENSEMBL:ENSP00000346403", "ENSEMBL:ENSP00000346403.3", "ENSEMBL:ENSP00000435113", "ENSEMBL:ENSP00000435113.1"], "information_content": 100.0}
{"id": "MONDO:0010325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Stocco dos Santos type", "equivalent_identifiers": ["MONDO:0010325", "DOID:0112126", "OMIM:300434", "orphanet:85288", "UMLS:C1845530", "UMLS:C4305076", "MESH:C537495", "SNOMEDCT:718910006", "medgen:335202"], "information_content": 100.0}
{"id": "UniProtKB:Q96GW7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "brevican core protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GW7-1", "PR:Q96GW7-1", "ENSEMBL:ENSP00000331210", "ENSEMBL:ENSP00000331210.4"], "information_content": 100.0}
{"id": "NCBIGene:375287", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBM43", "equivalent_identifiers": ["NCBIGene:375287", "ENSEMBL:ENSG00000184898", "HGNC:24790", "UMLS:C1824105", "UniProtKB:Q6ZSC3", "PR:Q6ZSC3", "ENSEMBL:ENSP00000331211", "ENSEMBL:ENSP00000331211.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96MU8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Kremen protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96MU8-2", "PR:Q96MU8-2", "ENSEMBL:ENSP00000331242", "ENSEMBL:ENSP00000331242.5"], "information_content": 100.0}
{"id": "NCBIGene:84197", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POMK", "equivalent_identifiers": ["NCBIGene:84197", "ENSEMBL:ENSG00000185900", "HGNC:26267", "OMIM:615247", "UMLS:C3808960", "UniProtKB:Q9H5K3", "PR:Q9H5K3", "ENSEMBL:ENSP00000331258", "ENSEMBL:ENSP00000331258.5", "ENSEMBL:ENSP00000502774", "ENSEMBL:ENSP00000502774.1", "UMLS:C3711215", "MESH:C583116"], "information_content": 92.8}
{"id": "MONDO:0044701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder", "equivalent_identifiers": ["MONDO:0044701", "DOID:0070474", "OMIM:617672", "orphanet:500180", "UMLS:C4540086", "UMLS:C5567227", "SNOMEDCT:1167373005", "medgen:1626007"], "information_content": 100.0}
{"id": "UniProtKB:Q5TZF3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 45 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TZF3-2", "PR:Q5TZF3-2", "ENSEMBL:ENSP00000331268", "ENSEMBL:ENSP00000331268.2"], "information_content": 100.0}
{"id": "DOID:0060498", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Timothy grass allergy", "equivalent_identifiers": ["DOID:0060498"]}
{"id": "NCBIGene:51224", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELOA2", "equivalent_identifiers": ["NCBIGene:51224", "ENSEMBL:ENSG00000206181", "HGNC:30771", "OMIM:609522", "UMLS:C1428998", "UniProtKB:Q8IYF1", "PR:Q8IYF1", "ENSEMBL:ENSP00000331302", "ENSEMBL:ENSP00000331302.4", "UMLS:C4547177", "MESH:C000616398"], "information_content": 100.0}
{"id": "UniProtKB:Q14106-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Tob2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14106-1", "PR:Q14106-1", "ENSEMBL:ENSP00000331305", "ENSEMBL:ENSP00000331305.3", "ENSEMBL:ENSP00000388549", "ENSEMBL:ENSP00000388549.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBU8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mortality factor 4-like protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBU8-1", "PR:Q9UBU8-1", "ENSEMBL:ENSP00000331310", "ENSEMBL:ENSP00000331310.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYB4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein subunit beta-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYB4-1", "PR:Q9BYB4-1", "ENSEMBL:ENSP00000331313", "ENSEMBL:ENSP00000331313.6", "ENSEMBL:ENSP00000385154", "ENSEMBL:ENSP00000385154.1"], "information_content": 100.0}
{"id": "MONDO:0004109", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiglottis neoplasm", "equivalent_identifiers": ["MONDO:0004109", "DOID:7105", "UMLS:C1290353", "MEDDRA:10087266", "NCIT:C4933", "SNOMEDCT:126699008", "medgen:266215"], "information_content": 88.2}
{"id": "UniProtKB:Q6WKZ4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab11 family-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6WKZ4-4", "PR:Q6WKZ4-4", "ENSEMBL:ENSP00000331342", "ENSEMBL:ENSP00000331342.4"], "information_content": 100.0}
{"id": "NCBIGene:2520", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GAST", "equivalent_identifiers": ["NCBIGene:2520", "ENSEMBL:ENSG00000184502", "HGNC:4164", "OMIM:137250", "UMLS:C1439341", "UniProtKB:A0A0E3VY36", "UniProtKB:P01350", "PR:P01350", "ENSEMBL:ENSP00000331358", "ENSEMBL:ENSP00000331358.3", "UMLS:C4520797", "UMLS:C5781084"], "information_content": 100.0}
{"id": "MONDO:0006916", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "postcholecystectomy syndrome", "equivalent_identifiers": ["MONDO:0006916", "DOID:9740", "EFO:1001117", "UMLS:C0152099", "MESH:D017562", "MEDDRA:10057229", "SNOMEDCT:90782003", "medgen:101815", "icd11.foundation:157319976", "ICD10:K91.5", "ICD9:576.0"], "information_content": 100.0}
{"id": "UniProtKB:P50452-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serpin B8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50452-1", "PR:P50452-1", "ENSEMBL:ENSP00000331368", "ENSEMBL:ENSP00000331368.3", "ENSEMBL:ENSP00000381072", "ENSEMBL:ENSP00000381072.2"], "information_content": 100.0}
{"id": "UniProtKB:Q53S33-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BolA-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53S33-1", "PR:Q53S33-1", "ENSEMBL:ENSP00000331369", "ENSEMBL:ENSP00000331369.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8IV33-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein KIAA0825 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IV33-2", "PR:Q8IV33-2", "ENSEMBL:ENSP00000331385", "ENSEMBL:ENSP00000331385.6"], "information_content": 100.0}
{"id": "MONDO:0008831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asphyxiating thoracic dystrophy 1", "equivalent_identifiers": ["MONDO:0008831", "DOID:0110085", "OMIM:208500", "UMLS:C4551856", "medgen:1648057"], "information_content": 100.0}
{"id": "UniProtKB:Q53RD9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibulin-7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53RD9-1", "PR:Q53RD9-1", "ENSEMBL:ENSP00000331411", "ENSEMBL:ENSP00000331411.2"], "information_content": 100.0}
{"id": "NCBIGene:284428", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MBD3L5", "equivalent_identifiers": ["NCBIGene:284428", "ENSEMBL:ENSG00000237247", "HGNC:37204", "UMLS:C3470942", "UniProtKB:A6NJ08", "ENSEMBL:ENSP00000331435", "ENSEMBL:ENSP00000331435.4"]}
{"id": "NCBIGene:619279", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF704", "equivalent_identifiers": ["NCBIGene:619279", "ENSEMBL:ENSG00000164684", "HGNC:32291", "UMLS:C1824003", "UniProtKB:E5RGL7", "ENSEMBL:ENSP00000427715", "ENSEMBL:ENSP00000427715.2", "UniProtKB:Q6ZNC4", "PR:Q6ZNC4", "ENSEMBL:ENSP00000331462", "ENSEMBL:ENSP00000331462.3", "UMLS:C5391380", "MESH:C000657329"], "information_content": 100.0}
{"id": "NCBIGene:7637", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF84", "equivalent_identifiers": ["NCBIGene:7637", "ENSEMBL:ENSG00000198040", "HGNC:13159", "OMIM:618554", "UMLS:C1421842", "UniProtKB:P51523", "PR:P51523", "ENSEMBL:ENSP00000331465", "ENSEMBL:ENSP00000331465.7", "ENSEMBL:ENSP00000376133", "ENSEMBL:ENSP00000376133.2", "ENSEMBL:ENSP00000445549", "ENSEMBL:ENSP00000445549.1", "UMLS:C1310457", "MESH:C451412"], "information_content": 89.4}
{"id": "MONDO:0003052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatous endometritis", "equivalent_identifiers": ["MONDO:0003052", "DOID:4561", "UMLS:C1333876", "NCIT:C27626", "medgen:234322"], "information_content": 100.0}
{"id": "NCBIGene:646658", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYNDIG1L", "equivalent_identifiers": ["NCBIGene:646658", "ENSEMBL:ENSG00000183379", "HGNC:32388", "OMIM:609999", "UMLS:C1823352", "UniProtKB:A6NDD5", "PR:A6NDD5", "ENSEMBL:ENSP00000331474", "ENSEMBL:ENSP00000331474.3", "ENSEMBL:ENSP00000450439", "ENSEMBL:ENSP00000450439.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear protein localization protein 4 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAT6-1", "PR:Q8TAT6-1", "ENSEMBL:ENSP00000331487", "ENSEMBL:ENSP00000331487.5"], "information_content": 100.0}
{"id": "NCBIGene:400629", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX19", "equivalent_identifiers": ["NCBIGene:400629", "ENSEMBL:ENSG00000182459", "HGNC:33802", "OMIM:615647", "UMLS:C2828861", "UniProtKB:Q8NA77", "PR:Q8NA77", "ENSEMBL:ENSP00000331500", "ENSEMBL:ENSP00000331500.4"], "information_content": 100.0}
{"id": "UniProtKB:P07332-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase Fes/Fps isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P07332-1", "PR:P07332-1", "ENSEMBL:ENSP00000331504", "ENSEMBL:ENSP00000331504.3"], "information_content": 100.0}
{"id": "MONDO:0008745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 1A", "equivalent_identifiers": ["MONDO:0008745", "DOID:0070094", "OMIM:203100", "orphanet:79431", "UMLS:C4551504", "NCIT:C168731", "SNOMEDCT:6483008", "medgen:1643910", "icd11.foundation:1168847652"], "information_content": 95.4}
{"id": "NCBIGene:124783", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA32", "equivalent_identifiers": ["NCBIGene:124783", "ENSEMBL:ENSG00000184361", "HGNC:26349", "UMLS:C3469985", "UniProtKB:B7Z7K7", "UniProtKB:Q96LK8", "PR:Q96LK8", "ENSEMBL:ENSP00000331532", "ENSEMBL:ENSP00000331532.4"], "information_content": 100.0}
{"id": "MONDO:0010453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 92", "equivalent_identifiers": ["MONDO:0010453", "DOID:0112032", "OMIM:300851", "UMLS:C1845144", "MESH:C564483", "medgen:335109"], "information_content": 100.0}
{"id": "UniProtKB:P23142-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibulin-1 isoform D (human)", "equivalent_identifiers": ["UniProtKB:P23142-1", "PR:P23142-1", "ENSEMBL:ENSP00000331544", "ENSEMBL:ENSP00000331544.6"], "information_content": 100.0}
{"id": "NCBIGene:1538", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYLC1", "equivalent_identifiers": ["NCBIGene:1538", "ENSEMBL:ENSG00000183035", "HGNC:2582", "OMIM:300768", "UMLS:C1413848", "UniProtKB:A0A087WXC8", "ENSEMBL:ENSP00000480907", "ENSEMBL:ENSP00000480907.1", "UniProtKB:P35663", "PR:P35663", "ENSEMBL:ENSP00000331556", "ENSEMBL:ENSP00000331556.4", "UniProtKB:Q6PEK4"], "information_content": 100.0}
{"id": "MONDO:0001539", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal break", "equivalent_identifiers": ["MONDO:0001539", "DOID:12514", "EFO:0010698", "UMLS:C0035321", "MESH:D012167", "MEDDRA:10038897", "MEDDRA:10066422", "NCIT:C50732", "SNOMEDCT:1275615004", "SNOMEDCT:232003005", "SNOMEDCT:95690009", "medgen:48435", "HP:0011958"], "information_content": 90.9}
{"id": "UniProtKB:Q8NF99-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 397 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NF99-1", "PR:Q8NF99-1", "ENSEMBL:ENSP00000331577", "ENSEMBL:ENSP00000331577.6"], "information_content": 100.0}
{"id": "NCBIGene:54328", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR173", "equivalent_identifiers": ["NCBIGene:54328", "ENSEMBL:ENSG00000184194", "HGNC:18186", "OMIM:300253", "UMLS:C1539609", "UniProtKB:Q9NS66", "PR:Q9NS66", "ENSEMBL:ENSP00000331600", "ENSEMBL:ENSP00000331600.5"], "information_content": 95.4}
{"id": "UniProtKB:Q05655-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein kinase C delta type isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q05655-1", "PR:Q05655-1", "ENSEMBL:ENSP00000331602", "ENSEMBL:ENSP00000331602.3", "ENSEMBL:ENSP00000378217", "ENSEMBL:ENSP00000378217.2", "ENSEMBL:ENSP00000498400", "ENSEMBL:ENSP00000498400.1", "ENSEMBL:ENSP00000498623", "ENSEMBL:ENSP00000498623.1", "ENSEMBL:ENSP00000499558", "ENSEMBL:ENSP00000499558.1"], "information_content": 100.0}
{"id": "NCBIGene:79191", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IRX3", "equivalent_identifiers": ["NCBIGene:79191", "ENSEMBL:ENSG00000177508", "HGNC:14360", "OMIM:612985", "UMLS:C1422592", "UniProtKB:P78415", "PR:P78415", "ENSEMBL:ENSP00000331608", "ENSEMBL:ENSP00000331608.3", "UMLS:C1570425", "MESH:C501598"], "information_content": 100.0}
{"id": "UniProtKB:Q13422-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-binding protein Ikaros isoform Ik1 (human)", "equivalent_identifiers": ["UniProtKB:Q13422-1", "PR:Q13422-1", "ENSEMBL:ENSP00000331614", "ENSEMBL:ENSP00000331614.3"], "information_content": 100.0}
{"id": "NCBIGene:147968", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAPN12", "equivalent_identifiers": ["NCBIGene:147968", "ENSEMBL:ENSG00000182472", "HGNC:13249", "OMIM:608839", "UMLS:C1421904", "UniProtKB:Q6ZSI9", "PR:Q6ZSI9", "ENSEMBL:ENSP00000331636", "ENSEMBL:ENSP00000331636.3", "UMLS:C1571542", "MESH:C418723"], "information_content": 100.0}
{"id": "NCBIGene:25880", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM186", "equivalent_identifiers": ["NCBIGene:25880", "ENSEMBL:ENSG00000184857", "HGNC:24530", "OMIM:620433", "UMLS:C1540250", "UniProtKB:Q96B77", "PR:Q96B77", "ENSEMBL:ENSP00000331640", "ENSEMBL:ENSP00000331640.6"], "information_content": 100.0}
{"id": "UniProtKB:Q6P3X8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "piggyBac transposable element-derived protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P3X8-1", "PR:Q6P3X8-1", "ENSEMBL:ENSP00000331643", "ENSEMBL:ENSP00000331643.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y446-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plakophilin-3 isoform PKP3a (human)", "equivalent_identifiers": ["UniProtKB:Q9Y446-1", "PR:Q9Y446-1", "ENSEMBL:ENSP00000331678", "ENSEMBL:ENSP00000331678.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14129-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein DGCR6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14129-1", "PR:Q14129-1", "ENSEMBL:ENSP00000331681", "ENSEMBL:ENSP00000331681.6"], "information_content": 100.0}
{"id": "MONDO:0013195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 13", "equivalent_identifiers": ["MONDO:0013195", "DOID:0110319", "OMIM:613243", "UMLS:C2750472", "MESH:C567686", "medgen:442487"], "information_content": 100.0}
{"id": "UniProtKB:Q53GT1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 22 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q53GT1-1", "PR:Q53GT1-1", "ENSEMBL:ENSP00000331682", "ENSEMBL:ENSP00000331682.4"], "information_content": 100.0}
{"id": "NCBIGene:144608", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C12orf60", "equivalent_identifiers": ["NCBIGene:144608", "ENSEMBL:ENSG00000182993", "HGNC:28726", "UMLS:C1824380", "UniProtKB:Q5U649", "PR:Q5U649", "ENSEMBL:ENSP00000331691", "ENSEMBL:ENSP00000331691.2"], "information_content": 100.0}
{"id": "NCBIGene:150165", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XKR3", "equivalent_identifiers": ["NCBIGene:150165", "ENSEMBL:ENSG00000172967", "HGNC:28778", "OMIM:611674", "UMLS:C1823870", "UniProtKB:B7ZMN2", "UMLS:C1721952", "MESH:C510504", "UniProtKB:Q5GH77", "PR:Q5GH77", "ENSEMBL:ENSP00000331704", "ENSEMBL:ENSP00000331704.5", "ENSEMBL:ENSP00000507478", "ENSEMBL:ENSP00000507478.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14CZ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HUWE1-associated protein modifying stress responses 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14CZ0-1", "PR:Q14CZ0-1", "ENSEMBL:ENSP00000331720", "ENSEMBL:ENSP00000331720.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9NS40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated inwardly rectifying potassium channel KCNH7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NS40-1", "PR:Q9NS40-1", "ENSEMBL:ENSP00000331727", "ENSEMBL:ENSP00000331727.5"], "information_content": 100.0}
{"id": "UniProtKB:P57055-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ripply3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P57055-1", "PR:P57055-1", "ENSEMBL:ENSP00000331734", "ENSEMBL:ENSP00000331734.2"], "information_content": 100.0}
{"id": "NCBIGene:6401", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SELE", "equivalent_identifiers": ["NCBIGene:6401", "ENSEMBL:ENSG00000007908", "HGNC:10718", "OMIM:131210", "UMLS:C1337114", "UniProtKB:P16581", "PR:P16581", "ENSEMBL:ENSP00000331736", "ENSEMBL:ENSP00000331736.7", "UMLS:C2742136", "MESH:C546936"], "information_content": 83.6}
{"id": "NCBIGene:3212", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXB2", "equivalent_identifiers": ["NCBIGene:3212", "ENSEMBL:ENSG00000173917", "HGNC:5113", "OMIM:142967", "UMLS:C1415665", "UniProtKB:P14652", "PR:P14652", "ENSEMBL:ENSP00000331741", "ENSEMBL:ENSP00000331741.4", "UMLS:C0252286", "MESH:C086061"], "information_content": 100.0}
{"id": "NCBIGene:9573", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GDF3", "equivalent_identifiers": ["NCBIGene:9573", "ENSEMBL:ENSG00000184344", "HGNC:4218", "OMIM:606522", "UMLS:C1415034", "UniProtKB:Q9NR23", "PR:Q9NR23", "ENSEMBL:ENSP00000331745", "ENSEMBL:ENSP00000331745.3", "UMLS:C2003670", "MESH:C525974"], "information_content": 100.0}
{"id": "UniProtKB:P01258-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcitonin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P01258-1", "PR:P01258-1", "ENSEMBL:ENSP00000331746", "ENSEMBL:ENSP00000331746.4", "ENSEMBL:ENSP00000379657", "ENSEMBL:ENSP00000379657.2"], "information_content": 92.8}
{"id": "MONDO:0014276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined immunodeficiency due to CD3gamma deficiency", "equivalent_identifiers": ["MONDO:0014276", "DOID:0060018", "DOID:0111973", "OMIM:615607", "orphanet:169082", "UMLS:C3810107", "UMLS:C4510864", "SNOMEDCT:725135004", "medgen:816437"], "information_content": 100.0}
{"id": "UniProtKB:O43435-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-box transcription factor TBX1 isoform C (human)", "equivalent_identifiers": ["UniProtKB:O43435-3", "PR:O43435-3", "ENSEMBL:ENSP00000331791", "ENSEMBL:ENSP00000331791.4"], "information_content": 100.0}
{"id": "UniProtKB:Q14393-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "growth arrest-specific protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14393-2", "PR:Q14393-2", "ENSEMBL:ENSP00000331831", "ENSEMBL:ENSP00000331831.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9UND3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NPIA1_HUMAN Nuclear pore complex-interacting protein family member A1 (sprot)", "equivalent_identifiers": ["UniProtKB:Q9UND3", "PR:Q9UND3", "ENSEMBL:ENSP00000331843", "ENSEMBL:ENSP00000331843.6"], "information_content": 100.0}
{"id": "UniProtKB:Q5THK1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein PRR14L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5THK1-1", "PR:Q5THK1-1", "ENSEMBL:ENSP00000331845", "ENSEMBL:ENSP00000331845.6"], "information_content": 100.0}
{"id": "NCBIGene:116541", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL54", "equivalent_identifiers": ["NCBIGene:116541", "ENSEMBL:ENSG00000183617", "HGNC:16685", "OMIM:611858", "UMLS:C1424484", "UniProtKB:Q6P161", "PR:Q6P161", "ENSEMBL:ENSP00000331849", "ENSEMBL:ENSP00000331849.3"], "information_content": 95.4}
{"id": "UniProtKB:Q7RTR0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NACHT, LRR and PYD domains-containing protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTR0-1", "PR:Q7RTR0-1", "ENSEMBL:ENSP00000331857", "ENSEMBL:ENSP00000331857.2"], "information_content": 100.0}
{"id": "MONDO:0013450", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness 1D", "equivalent_identifiers": ["MONDO:0013450", "DOID:0110868", "OMIM:613830", "UMLS:C3151193", "medgen:462543"], "information_content": 100.0}
{"id": "UniProtKB:Q7RTX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "taste receptor type 1 member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTX1-1", "PR:Q7RTX1-1", "ENSEMBL:ENSP00000331867", "ENSEMBL:ENSP00000331867.6"], "information_content": 100.0}
{"id": "UniProtKB:O60678-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein arginine N-methyltransferase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60678-1", "PR:O60678-1", "ENSEMBL:ENSP00000331879", "ENSEMBL:ENSP00000331879.6"], "information_content": 100.0}
{"id": "UniProtKB:P48735-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "isocitrate dehydrogenase [NADP], mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48735-1", "PR:P48735-1", "ENSEMBL:ENSP00000331897", "ENSEMBL:ENSP00000331897.4"], "information_content": 100.0}
{"id": "UniProtKB:P26641-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "elongation factor 1-gamma isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P26641-1", "PR:P26641-1", "ENSEMBL:ENSP00000331901", "ENSEMBL:ENSP00000331901.4"], "information_content": 100.0}
{"id": "UniProtKB:P29400-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-5(IV) chain isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P29400-2", "PR:P29400-2", "ENSEMBL:ENSP00000331902", "ENSEMBL:ENSP00000331902.7"], "information_content": 100.0}
{"id": "NCBIGene:9704", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DHX34", "equivalent_identifiers": ["NCBIGene:9704", "ENSEMBL:ENSG00000134815", "HGNC:16719", "OMIM:615475", "UMLS:C1424505", "UniProtKB:Q14147", "PR:Q14147", "ENSEMBL:ENSP00000331907", "ENSEMBL:ENSP00000331907.4", "ENSEMBL:ENSP00000520696", "ENSEMBL:ENSP00000520696.1", "UMLS:C3177858", "MESH:C559844"], "information_content": 95.4}
{"id": "NCBIGene:359845", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RFLNB", "equivalent_identifiers": ["NCBIGene:359845", "ENSEMBL:ENSG00000183688", "HGNC:28705", "OMIM:615928", "UMLS:C1825225", "UniProtKB:Q8N5W9", "PR:Q8N5W9", "ENSEMBL:ENSP00000331915", "ENSEMBL:ENSP00000331915.4", "ENSEMBL:ENSP00000491376", "ENSEMBL:ENSP00000491376.2"], "information_content": 100.0}
{"id": "MONDO:0008137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome X", "equivalent_identifiers": ["MONDO:0008137", "DOID:0060380", "OMIM:165590", "UMLS:C1833796", "MESH:C563491", "SNOMEDCT:722075004", "medgen:322280"], "information_content": 100.0}
{"id": "UniProtKB:Q5FWF6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 789 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5FWF6-1", "PR:Q5FWF6-1", "ENSEMBL:ENSP00000331927", "ENSEMBL:ENSP00000331927.5"], "information_content": 100.0}
{"id": "MONDO:0003957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult pineoblastoma", "equivalent_identifiers": ["MONDO:0003957", "DOID:6648", "UMLS:C0281332", "NCIT:C8292", "medgen:83794"], "information_content": 100.0}
{"id": "UniProtKB:Q8WTP8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptosis-enhancing nuclease isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WTP8-1", "PR:Q8WTP8-1", "ENSEMBL:ENSP00000331944", "ENSEMBL:ENSP00000331944.3"], "information_content": 100.0}
{"id": "NCBIGene:727910", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLCD2", "equivalent_identifiers": ["NCBIGene:727910", "ENSEMBL:ENSG00000185561", "HGNC:33522", "OMIM:620967", "UMLS:C2680471", "UniProtKB:A6NGC4", "PR:A6NGC4", "ENSEMBL:ENSP00000331965", "ENSEMBL:ENSP00000331965.6", "ENSEMBL:ENSP00000479301", "ENSEMBL:ENSP00000479301.1", "UMLS:C5196895", "MESH:C000630373"], "information_content": 100.0}
{"id": "UniProtKB:Q5VZK9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-actin-uncapping protein LRRC16A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VZK9-1", "PR:Q5VZK9-1", "ENSEMBL:ENSP00000331983", "ENSEMBL:ENSP00000331983.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5A5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger CCCH-type with G patch domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5A5-1", "PR:Q8N5A5-1", "ENSEMBL:ENSP00000332013", "ENSEMBL:ENSP00000332013.5"], "information_content": 100.0}
{"id": "UniProtKB:P42081-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-lymphocyte activation antigen CD86 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P42081-1", "PR:P42081-1", "ENSEMBL:ENSP00000332049", "ENSEMBL:ENSP00000332049.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z614-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z614-1", "PR:Q7Z614-1", "ENSEMBL:ENSP00000332062", "ENSEMBL:ENSP00000332062.4"], "information_content": 100.0}
{"id": "MONDO:0002528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "synovium neoplasm", "equivalent_identifiers": ["MONDO:0002528", "DOID:315", "UMLS:C0476203", "NCIT:C8964", "medgen:99197"], "information_content": 84.2}
{"id": "NCBIGene:4245", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MGAT1", "equivalent_identifiers": ["NCBIGene:4245", "ENSEMBL:ENSG00000131446", "HGNC:7044", "OMIM:160995", "UMLS:C1417133", "UniProtKB:P26572", "PR:P26572", "ENSEMBL:ENSP00000311888", "ENSEMBL:ENSP00000311888.4", "ENSEMBL:ENSP00000332073", "ENSEMBL:ENSP00000332073.3", "ENSEMBL:ENSP00000377010", "ENSEMBL:ENSP00000377010.3", "ENSEMBL:ENSP00000402838", "ENSEMBL:ENSP00000402838.2", "ENSEMBL:ENSP00000404718", "ENSEMBL:ENSP00000404718.2", "UMLS:C3254305", "MESH:C561128"], "information_content": 92.8}
{"id": "UniProtKB:Q9BRA0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRA0-2", "PR:Q9BRA0-2", "ENSEMBL:ENSP00000332103", "ENSEMBL:ENSP00000332103.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8IY85-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EF-hand calcium-binding domain-containing protein 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY85-1", "PR:Q8IY85-1", "ENSEMBL:ENSP00000332111", "ENSEMBL:ENSP00000332111.2"], "information_content": 100.0}
{"id": "NCBIGene:2049", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPHB3", "equivalent_identifiers": ["NCBIGene:2049", "ENSEMBL:ENSG00000182580", "HGNC:3394", "OMIM:601839", "UMLS:C1333341", "UniProtKB:P54753", "PR:P54753", "ENSEMBL:ENSP00000332118", "ENSEMBL:ENSP00000332118.2", "UMLS:C1333409"], "information_content": 89.4}
{"id": "NCBIGene:65121", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF1", "equivalent_identifiers": ["NCBIGene:65121", "ENSEMBL:ENSG00000116721", "HGNC:28840", "UMLS:C1826673", "UniProtKB:B7ZM17", "UniProtKB:O95521", "PR:O95521", "ENSEMBL:ENSP00000332134", "ENSEMBL:ENSP00000332134.7"], "information_content": 95.4}
{"id": "UniProtKB:Q8IYY4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilium assembly protein DZIP1L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYY4-1", "PR:Q8IYY4-1", "ENSEMBL:ENSP00000332148", "ENSEMBL:ENSP00000332148.2"], "information_content": 100.0}
{"id": "MONDO:0011037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "renal dysplasia, cystic, susceptibility to", "equivalent_identifiers": ["MONDO:0011037", "DOID:0111682", "OMIM:601331", "UMLS:C1832471", "UMLS:C3275898", "MESH:C537755", "medgen:477529"], "information_content": 100.0}
{"id": "NCBIGene:163778", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPRR4", "equivalent_identifiers": ["NCBIGene:163778", "ENSEMBL:ENSG00000184148", "HGNC:23173", "OMIM:616363", "UMLS:C1427965", "UniProtKB:Q96PI1", "PR:Q96PI1", "ENSEMBL:ENSP00000332163", "ENSEMBL:ENSP00000332163.2", "UMLS:C1432402", "MESH:C444462"], "information_content": 100.0}
{"id": "UniProtKB:O75094-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "slit homolog 3 protein isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O75094-4", "PR:O75094-4", "ENSEMBL:ENSP00000332164", "ENSEMBL:ENSP00000332164.8"], "information_content": 100.0}
{"id": "NCBIGene:8338", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2AC20", "equivalent_identifiers": ["NCBIGene:8338", "ENSEMBL:ENSG00000184260", "HGNC:4738", "OMIM:602797", "UMLS:C5203144", "UniProtKB:Q16777", "PR:Q16777", "ENSEMBL:ENSP00000332194", "ENSEMBL:ENSP00000332194.3", "UMLS:C5203143"], "information_content": 80.2}
{"id": "NCBIGene:55505", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOP10", "equivalent_identifiers": ["NCBIGene:55505", "ENSEMBL:ENSG00000182117", "HGNC:14378", "OMIM:606471", "UMLS:C1422602", "UniProtKB:Q9NPE3", "PR:Q9NPE3", "ENSEMBL:ENSP00000332198", "ENSEMBL:ENSP00000332198.5", "ENSEMBL:ENSP00000517739", "ENSEMBL:ENSP00000517739.1", "UMLS:C0962525", "MESH:C416930"], "information_content": 90.9}
{"id": "NCBIGene:222546", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RFX6", "equivalent_identifiers": ["NCBIGene:222546", "ENSEMBL:ENSG00000185002", "HGNC:21478", "OMIM:612659", "UMLS:C1427569", "UniProtKB:Q8HWS3", "PR:Q8HWS3", "ENSEMBL:ENSP00000332208", "ENSEMBL:ENSP00000332208.2"], "information_content": 100.0}
{"id": "MONDO:0009044", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crigler-Najjar syndrome", "equivalent_identifiers": ["MONDO:0009044", "DOID:3803", "orphanet:205", "UMLS:C5551003", "MESH:D003414", "MEDDRA:10011386", "NCIT:C84656", "SNOMEDCT:28259009", "medgen:1789261", "icd11.foundation:291439191"], "information_content": 92.8}
{"id": "NCBIGene:5671", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSG3", "equivalent_identifiers": ["NCBIGene:5671", "ENSEMBL:ENSG00000221826", "HGNC:9520", "OMIM:176392", "UMLS:C1418995", "UniProtKB:Q16557", "PR:Q16557", "ENSEMBL:ENSP00000332215", "ENSEMBL:ENSP00000332215.5", "ENSEMBL:ENSP00000480223", "ENSEMBL:ENSP00000480223.1"], "information_content": 95.4}
{"id": "NCBIGene:5367", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PMCH", "equivalent_identifiers": ["NCBIGene:5367", "ENSEMBL:ENSG00000183395", "HGNC:9109", "OMIM:176795", "UMLS:C1418669", "UniProtKB:P20382", "PR:P20382", "ENSEMBL:ENSP00000332225", "ENSEMBL:ENSP00000332225.4"], "information_content": 100.0}
{"id": "MONDO:0054723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 19", "equivalent_identifiers": ["MONDO:0054723", "DOID:0070170", "OMIM:617592", "UMLS:C4539818", "medgen:1614356"], "information_content": 100.0}
{"id": "NCBIGene:23545", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP6V0A2", "equivalent_identifiers": ["NCBIGene:23545", "ENSEMBL:ENSG00000185344", "HGNC:18481", "OMIM:611716", "UMLS:C1425544", "UniProtKB:Q9Y487", "PR:Q9Y487", "ENSEMBL:ENSP00000332247", "ENSEMBL:ENSP00000332247.2", "UMLS:C2003295", "MESH:C525845"], "information_content": 88.2}
{"id": "NCBIGene:220", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALDH1A3", "equivalent_identifiers": ["NCBIGene:220", "ENSEMBL:ENSG00000184254", "HGNC:409", "OMIM:600463", "UMLS:C1412340", "UniProtKB:H0Y2X5", "ENSEMBL:ENSP00000343294", "ENSEMBL:ENSP00000343294.6", "UMLS:C3492278", "UniProtKB:P47895", "PR:P47895", "ENSEMBL:ENSP00000332256", "ENSEMBL:ENSP00000332256.5"], "information_content": 92.8}
{"id": "UniProtKB:O43759-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptogyrin-1 isoform h1A (human)", "equivalent_identifiers": ["UniProtKB:O43759-1", "PR:O43759-1", "ENSEMBL:ENSP00000332287", "ENSEMBL:ENSP00000332287.5"], "information_content": 100.0}
{"id": "MONDO:0011459", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 5", "equivalent_identifiers": ["MONDO:0011459", "DOID:0110074", "OMIM:604400", "UMLS:C1858379", "MESH:C565776", "NCIT:C173470", "medgen:346805"], "information_content": 100.0}
{"id": "NCBIGene:391712", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM61", "equivalent_identifiers": ["NCBIGene:391712", "ENSEMBL:ENSG00000183439", "HGNC:24339", "OMIM:619417", "UMLS:C1540065", "UniProtKB:A0A494C0U7", "ENSEMBL:ENSP00000498736", "ENSEMBL:ENSP00000498736.1", "ENSEMBL:ENSP00000518164", "ENSEMBL:ENSP00000518164.1", "UniProtKB:Q5EBN2", "PR:Q5EBN2", "ENSEMBL:ENSP00000332288", "ENSEMBL:ENSP00000332288.5", "UMLS:C3710934", "MESH:C584090"], "information_content": 100.0}
{"id": "NCBIGene:430", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASCL2", "equivalent_identifiers": ["NCBIGene:430", "ENSEMBL:ENSG00000183734", "HGNC:739", "OMIM:601886", "UMLS:C1412575", "UniProtKB:Q99929", "PR:Q99929", "ENSEMBL:ENSP00000332293", "ENSEMBL:ENSP00000332293.4", "UMLS:C0526618", "MESH:C065501"], "information_content": 100.0}
{"id": "UniProtKB:P10826-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinoic acid receptor beta isoform hBeta-2 (human)", "equivalent_identifiers": ["UniProtKB:P10826-2", "PR:P10826-2", "ENSEMBL:ENSP00000332296", "ENSEMBL:ENSP00000332296.4"], "information_content": 100.0}
{"id": "NCBIGene:80139", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF703", "equivalent_identifiers": ["NCBIGene:80139", "ENSEMBL:ENSG00000183779", "HGNC:25883", "OMIM:617045", "UMLS:C1824002", "UniProtKB:Q9H7S9", "PR:Q9H7S9", "ENSEMBL:ENSP00000332325", "ENSEMBL:ENSP00000332325.4", "UMLS:C2716192", "UMLS:C3275269", "MESH:C541016"], "information_content": 100.0}
{"id": "NCBIGene:55794", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX28", "equivalent_identifiers": ["NCBIGene:55794", "ENSEMBL:ENSG00000182810", "HGNC:17330", "OMIM:607618", "UMLS:C1424908", "UniProtKB:Q9NUL7", "PR:Q9NUL7", "ENSEMBL:ENSP00000332340", "ENSEMBL:ENSP00000332340.6", "UMLS:C1432261", "MESH:C434959"], "information_content": 95.4}
{"id": "UniProtKB:Q13635-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein patched homolog 1 isoform L (human)", "equivalent_identifiers": ["UniProtKB:Q13635-1", "PR:Q13635-1", "ENSEMBL:ENSP00000332353", "ENSEMBL:ENSP00000332353.6"], "information_content": 100.0}
{"id": "MONDO:0004325", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular thecoma", "equivalent_identifiers": ["MONDO:0004325", "DOID:7676", "UMLS:C1515299", "NCIT:C39952", "medgen:308260"], "information_content": 100.0}
{"id": "UniProtKB:Q02388-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(VII) chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q02388-1", "PR:Q02388-1", "ENSEMBL:ENSP00000332371", "ENSEMBL:ENSP00000332371.8", "ENSEMBL:ENSP00000506558", "ENSEMBL:ENSP00000506558.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXZ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane and immunoglobulin domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXZ0-1", "PR:Q6UXZ0-1", "ENSEMBL:ENSP00000332404", "ENSEMBL:ENSP00000332404.4"], "information_content": 100.0}
{"id": "MONDO:0017048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudomyxoma peritonei", "equivalent_identifiers": ["MONDO:0017048", "DOID:3559", "orphanet:26790", "EFO:0007456", "UMLS:C0033822", "MESH:D011553", "MEDDRA:10028666", "MEDDRA:10037138", "NCIT:C3345", "SNOMEDCT:112679004", "SNOMEDCT:307601000", "medgen:18726", "icd11.foundation:1849365560", "HP:0040414"], "information_content": 84.8}
{"id": "NCBIGene:93517", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDR42E1", "equivalent_identifiers": ["NCBIGene:93517", "ENSEMBL:ENSG00000184860", "HGNC:29834", "OMIM:616164", "UMLS:C2680368", "UniProtKB:Q8WUS8", "PR:Q8WUS8", "ENSEMBL:ENSP00000332407", "ENSEMBL:ENSP00000332407.4"], "information_content": 100.0}
{"id": "MONDO:0100340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Friedreich ataxia 1", "equivalent_identifiers": ["MONDO:0100340", "DOID:0111218", "OMIM:229300", "UMLS:C1856689", "MESH:C565561", "medgen:383962"], "information_content": 100.0}
{"id": "UniProtKB:Q8N1M1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bestrophin-3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1M1-2", "PR:Q8N1M1-2", "ENSEMBL:ENSP00000332413", "ENSEMBL:ENSP00000332413.5"], "information_content": 100.0}
{"id": "NCBIGene:23283", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSTF2T", "equivalent_identifiers": ["NCBIGene:23283", "ENSEMBL:ENSG00000177613", "HGNC:17086", "OMIM:611968", "UMLS:C1424733", "UniProtKB:Q9H0L4", "PR:Q9H0L4", "ENSEMBL:ENSP00000332444", "ENSEMBL:ENSP00000332444.4", "UMLS:C1258707", "MESH:C474466"], "information_content": 95.4}
{"id": "NCBIGene:113179", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAT3", "equivalent_identifiers": ["NCBIGene:113179", "ENSEMBL:ENSG00000213638", "HGNC:25151", "OMIM:615302", "UMLS:C2239292", "UniProtKB:D6W601", "ENSEMBL:ENSP00000332448", "ENSEMBL:ENSP00000332448.2", "UMLS:C5391301", "UniProtKB:Q96EY9", "PR:Q96EY9"]}
{"id": "MONDO:0014480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 9", "equivalent_identifiers": ["MONDO:0014480", "DOID:0111770", "OMIM:616067", "UMLS:C4015129", "medgen:863566"], "information_content": 100.0}
{"id": "NCBIGene:1396", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRIP1", "equivalent_identifiers": ["NCBIGene:1396", "ENSEMBL:ENSG00000213145", "HGNC:2360", "OMIM:123875", "UMLS:C1413712", "UniProtKB:P50238", "PR:P50238", "ENSEMBL:ENSP00000332449", "ENSEMBL:ENSP00000332449.7", "ENSEMBL:ENSP00000376315", "ENSEMBL:ENSP00000376315.3", "ENSEMBL:ENSP00000386340", "ENSEMBL:ENSP00000386340.2", "UMLS:C0287653", "MESH:C486181"], "information_content": 90.9}
{"id": "UniProtKB:P57078-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-interacting serine/threonine-protein kinase 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P57078-2", "PR:P57078-2", "ENSEMBL:ENSP00000332454", "ENSEMBL:ENSP00000332454.3"], "information_content": 100.0}
{"id": "NCBIGene:162540", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPPL2C", "equivalent_identifiers": ["NCBIGene:162540", "ENSEMBL:ENSG00000185294", "HGNC:28902", "OMIM:608284", "UMLS:C1842308", "UniProtKB:Q8IUH8", "PR:Q8IUH8", "ENSEMBL:ENSP00000332488", "ENSEMBL:ENSP00000332488.5", "UMLS:C5391695", "MESH:C000706975"], "information_content": 100.0}
{"id": "MONDO:0013298", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 17q21.31 duplication syndrome", "equivalent_identifiers": ["MONDO:0013298", "DOID:0060434", "OMIM:613533", "orphanet:217340", "UMLS:C4274345", "SNOMEDCT:716683005", "medgen:901723"], "information_content": 100.0}
{"id": "NCBIGene:2826", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCR10", "equivalent_identifiers": ["NCBIGene:2826", "ENSEMBL:ENSG00000184451", "HGNC:4474", "OMIM:600240", "UMLS:C1333692", "UniProtKB:P46092", "PR:P46092", "ENSEMBL:ENSP00000332504", "ENSEMBL:ENSP00000332504.4", "UMLS:C0667720", "MESH:C515706"], "information_content": 92.8}
{"id": "NCBIGene:6450", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SH3BGR", "equivalent_identifiers": ["NCBIGene:6450", "ENSEMBL:ENSG00000185437", "HGNC:10822", "OMIM:602230", "UMLS:C1420019", "UniProtKB:A0A804CBI3", "ENSEMBL:ENSP00000332513", "ENSEMBL:ENSP00000332513.5", "UniProtKB:C9JJT2", "ENSEMBL:ENSP00000404980", "ENSEMBL:ENSP00000404980.1", "UMLS:C1430683", "MESH:C104671", "UniProtKB:P55822", "PR:P55822"]}
{"id": "NCBIGene:92736", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTOP2", "equivalent_identifiers": ["NCBIGene:92736", "ENSEMBL:ENSG00000183034", "HGNC:19657", "OMIM:607827", "UMLS:C1426307", "UniProtKB:Q7RTS6", "PR:Q7RTS6", "ENSEMBL:ENSP00000332528", "ENSEMBL:ENSP00000332528.4", "UMLS:C5197499", "MESH:C000632555"], "information_content": 95.4}
{"id": "UniProtKB:Q5VYX0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "renalase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VYX0-1", "PR:Q5VYX0-1", "ENSEMBL:ENSP00000332530", "ENSEMBL:ENSP00000332530.4"], "information_content": 100.0}
{"id": "MONDO:0007925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "5q-syndrome", "equivalent_identifiers": ["MONDO:0007925", "DOID:0090016", "OMIM:153550", "orphanet:86841", "UMLS:C0740302", "UMLS:C1292779", "UMLS:C1835193", "MESH:C535323", "MEDDRA:10000031", "MEDDRA:10068532", "NCIT:C6867", "SNOMEDCT:128837000", "SNOMEDCT:277597005", "medgen:196625", "icd11.foundation:420472577", "ICD10:D46.7"], "information_content": 100.0}
{"id": "UniProtKB:Q12879-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor ionotropic, NMDA 2A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q12879-1", "PR:Q12879-1", "ENSEMBL:ENSP00000332549", "ENSEMBL:ENSP00000332549.3", "ENSEMBL:ENSP00000379818", "ENSEMBL:ENSP00000379818.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BR01-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sulfotransferase 4A1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BR01-1", "PR:Q9BR01-1", "ENSEMBL:ENSP00000332565", "ENSEMBL:ENSP00000332565.4"], "information_content": 100.0}
{"id": "MONDO:0032636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex 1 deficiency, nuclear type 33", "equivalent_identifiers": ["MONDO:0032636", "DOID:0112097", "OMIM:618253", "UMLS:C4748840", "medgen:1648420"], "information_content": 100.0}
{"id": "UniProtKB:Q969R2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxysterol-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969R2-1", "PR:Q969R2-1", "ENSEMBL:ENSP00000332576", "ENSEMBL:ENSP00000332576.6"], "information_content": 100.0}
{"id": "NCBIGene:4887", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPY2R", "equivalent_identifiers": ["NCBIGene:4887", "ENSEMBL:ENSG00000185149", "HGNC:7957", "OMIM:162642", "UMLS:C1417817", "UniProtKB:P49146", "PR:P49146", "ENSEMBL:ENSP00000332591", "ENSEMBL:ENSP00000332591.3", "ENSEMBL:ENSP00000426366", "ENSEMBL:ENSP00000426366.1", "UMLS:C3642155"], "information_content": 100.0}
{"id": "UniProtKB:Q8N0X2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sperm-associated antigen 16 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N0X2-1", "PR:Q8N0X2-1", "ENSEMBL:ENSP00000332592", "ENSEMBL:ENSP00000332592.5"], "information_content": 100.0}
{"id": "UniProtKB:Q03936-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 92 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q03936-1", "PR:Q03936-1", "ENSEMBL:ENSP00000332595", "ENSEMBL:ENSP00000332595.8"], "information_content": 100.0}
{"id": "UniProtKB:P78358-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cancer/testis antigen 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78358-1", "PR:P78358-1", "ENSEMBL:ENSP00000332602", "ENSEMBL:ENSP00000332602.2", "ENSEMBL:ENSP00000469441", "ENSEMBL:ENSP00000469441.1"], "information_content": 100.0}
{"id": "MONDO:0006294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pleural cancer", "equivalent_identifiers": ["MONDO:0006294", "DOID:5158", "EFO:1000362", "UMLS:C0153494", "MEDDRA:10026351", "MEDDRA:10026352", "MEDDRA:10026354", "NCIT:C3547", "SNOMEDCT:363433009", "medgen:56307", "ICD10:C38.4", "ICD9:163"], "information_content": 75.0}
{"id": "UniProtKB:Q99613-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 3 subunit C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99613-1", "PR:Q99613-1", "ENSEMBL:ENSP00000332604", "ENSEMBL:ENSP00000332604.7", "ENSEMBL:ENSP00000378953", "ENSEMBL:ENSP00000378953.1", "ENSEMBL:ENSP00000457418", "ENSEMBL:ENSP00000457418.1", "ENSEMBL:ENSP00000457963", "ENSEMBL:ENSP00000457963.1"], "information_content": 100.0}
{"id": "NCBIGene:220323", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OAF", "equivalent_identifiers": ["NCBIGene:220323", "ENSEMBL:ENSG00000184232", "HGNC:28752", "OMIM:621070", "UMLS:C1826502", "UniProtKB:Q86UD1", "PR:Q86UD1", "ENSEMBL:ENSP00000332613", "ENSEMBL:ENSP00000332613.3"], "information_content": 100.0}
{"id": "NCBIGene:10227", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC75A1", "equivalent_identifiers": ["NCBIGene:10227", "ENSEMBL:ENSG00000109736", "HGNC:16894", "OMIM:610977", "UMLS:C1970410", "UniProtKB:D6R9N3", "ENSEMBL:ENSP00000423509", "ENSEMBL:ENSP00000423509.1", "UniProtKB:D6RA47", "ENSEMBL:ENSP00000423402", "ENSEMBL:ENSP00000423402.1", "UniProtKB:D6RE79", "ENSEMBL:ENSP00000426907", "ENSEMBL:ENSP00000426907.1", "UniProtKB:Q14728", "PR:Q14728", "ENSEMBL:ENSP00000332646", "ENSEMBL:ENSP00000332646.4", "ENSEMBL:ENSP00000347619", "ENSEMBL:ENSP00000347619.4", "UMLS:C1957270", "MESH:C519998"], "information_content": 100.0}
{"id": "NCBIGene:339221", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ENPP7", "equivalent_identifiers": ["NCBIGene:339221", "ENSEMBL:ENSG00000182156", "HGNC:23764", "OMIM:616997", "UMLS:C1539359", "UniProtKB:Q6UWV6", "PR:Q6UWV6", "ENSEMBL:ENSP00000332656", "ENSEMBL:ENSP00000332656.5", "UMLS:C1701046", "MESH:C508908"], "information_content": 89.4}
{"id": "NCBIGene:1233", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCR4", "equivalent_identifiers": ["NCBIGene:1233", "ENSEMBL:ENSG00000183813", "HGNC:1605", "OMIM:604836", "UMLS:C1413190", "UniProtKB:A0N0Q1", "UMLS:C1438056", "MESH:C515354", "UniProtKB:P51679", "PR:P51679", "ENSEMBL:ENSP00000332659", "ENSEMBL:ENSP00000332659.5", "ENSEMBL:ENSP00000520802", "ENSEMBL:ENSP00000520802.1", "UMLS:C4284283"], "information_content": 90.9}
{"id": "NCBIGene:1553", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP2A13", "equivalent_identifiers": ["NCBIGene:1553", "ENSEMBL:ENSG00000197838", "HGNC:2608", "OMIM:608055", "UMLS:C1413867", "UniProtKB:Q16696", "PR:Q16696", "ENSEMBL:ENSP00000332679", "ENSEMBL:ENSP00000332679.1", "UMLS:C0961212", "MESH:C414206"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2M1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LRP2-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2M1-1", "PR:Q9P2M1-1", "ENSEMBL:ENSP00000332681", "ENSEMBL:ENSP00000332681.7", "ENSEMBL:ENSP00000426203", "ENSEMBL:ENSP00000426203.1"], "information_content": 100.0}
{"id": "NCBIGene:5813", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PURA", "equivalent_identifiers": ["NCBIGene:5813", "ENSEMBL:ENSG00000185129", "HGNC:9701", "OMIM:600473", "UMLS:C1335290", "UniProtKB:Q00577", "PR:Q00577", "ENSEMBL:ENSP00000332706", "ENSEMBL:ENSP00000332706.3", "ENSEMBL:ENSP00000499133", "ENSEMBL:ENSP00000499133.1", "UMLS:C0291181", "UMLS:C1571480", "MESH:C501130"], "information_content": 100.0}
{"id": "NCBIGene:10584", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COLEC10", "equivalent_identifiers": ["NCBIGene:10584", "ENSEMBL:ENSG00000184374", "HGNC:2220", "OMIM:607620", "UMLS:C1413598", "UniProtKB:Q9Y6Z7", "PR:Q9Y6Z7", "ENSEMBL:ENSP00000332723", "ENSEMBL:ENSP00000332723.2", "UMLS:C0752684", "MESH:C445459"], "information_content": 90.9}
{"id": "UniProtKB:Q6ZN44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "netrin receptor UNC5A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZN44-1", "PR:Q6ZN44-1", "ENSEMBL:ENSP00000332737", "ENSEMBL:ENSP00000332737.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15776-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein with KRAB and SCAN domains 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15776-1", "PR:Q15776-1", "ENSEMBL:ENSP00000332750", "ENSEMBL:ENSP00000332750.5", "ENSEMBL:ENSP00000402948", "ENSEMBL:ENSP00000402948.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NB49-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid-transporting ATPase IG isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NB49-1", "PR:Q8NB49-1", "ENSEMBL:ENSP00000332756", "ENSEMBL:ENSP00000332756.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6P4F1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-(1,3)-fucosyltransferase 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P4F1-1", "PR:Q6P4F1-1", "ENSEMBL:ENSP00000332757", "ENSEMBL:ENSP00000332757.5"], "information_content": 100.0}
{"id": "MONDO:0001154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Siberian tick typhus", "equivalent_identifiers": ["MONDO:0001154", "DOID:10921", "UMLS:C0549160", "MEDDRA:10029786", "MEDDRA:10029787", "SNOMEDCT:186781003", "medgen:639822", "ICD10:A77.2", "ICD9:082.2"], "information_content": 100.0}
{"id": "NCBIGene:256933", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPB", "equivalent_identifiers": ["NCBIGene:256933", "ENSEMBL:ENSG00000183979", "HGNC:30099", "OMIM:607996", "UMLS:C1826460", "UniProtKB:Q8NG41", "PR:Q8NG41", "ENSEMBL:ENSP00000332766", "ENSEMBL:ENSP00000332766.7"], "information_content": 100.0}
{"id": "UniProtKB:P51800-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chloride channel protein ClC-Ka isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P51800-1", "PR:P51800-1", "ENSEMBL:ENSP00000332771", "ENSEMBL:ENSP00000332771.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N8F6-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein YIPF7 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8F6-5", "PR:Q8N8F6-5", "ENSEMBL:ENSP00000332772", "ENSEMBL:ENSP00000332772.6"], "information_content": 100.0}
{"id": "NCBIGene:9543", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGDCC3", "equivalent_identifiers": ["NCBIGene:9543", "ENSEMBL:ENSG00000174498", "HGNC:9700", "OMIM:604184", "UMLS:C1419137", "UniProtKB:Q8IVU1", "PR:Q8IVU1", "ENSEMBL:ENSP00000332773", "ENSEMBL:ENSP00000332773.4", "UMLS:C2352244", "MESH:C527430"], "information_content": 100.0}
{"id": "UniProtKB:A1A5B4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anoctamin-9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A1A5B4-1", "PR:A1A5B4-1", "ENSEMBL:ENSP00000332788", "ENSEMBL:ENSP00000332788.6"], "information_content": 100.0}
{"id": "MONDO:0014266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "age related macular degeneration 15", "equivalent_identifiers": ["MONDO:0014266", "DOID:0110027", "OMIM:615591", "UMLS:C3810042", "medgen:816372"], "information_content": 100.0}
{"id": "NCBIGene:80311", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHL15", "equivalent_identifiers": ["NCBIGene:80311", "ENSEMBL:ENSG00000174010", "HGNC:29347", "OMIM:300980", "UMLS:C1537495", "UniProtKB:Q96M94", "PR:Q96M94", "ENSEMBL:ENSP00000332791", "ENSEMBL:ENSP00000332791.8", "ENSEMBL:ENSP00000508713", "ENSEMBL:ENSP00000508713.1", "ENSEMBL:ENSP00000509439", "ENSEMBL:ENSP00000509439.1", "ENSEMBL:ENSP00000509509", "ENSEMBL:ENSP00000509509.1", "ENSEMBL:ENSP00000509774", "ENSEMBL:ENSP00000509774.1", "UMLS:C1620025", "MESH:C503716", "UniProtKB:V9HWF1"], "information_content": 89.4}
{"id": "NCBIGene:337879", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP8-1", "equivalent_identifiers": ["NCBIGene:337879", "ENSEMBL:ENSG00000183640", "HGNC:18935", "UMLS:C1425903", "UniProtKB:Q8IUC2", "PR:Q8IUC2", "ENSEMBL:ENSP00000332805", "ENSEMBL:ENSP00000332805.4", "UMLS:C3849345", "MESH:C587173"], "information_content": 100.0}
{"id": "MONDO:0018233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otopalatodigital syndrome spectrum disorder", "equivalent_identifiers": ["MONDO:0018233", "DOID:0111782", "orphanet:364541", "UMLS:C2748918", "MESH:C567577", "MEDDRA:10084408", "SNOMEDCT:784010006", "medgen:411701"], "information_content": 86.3}
{"id": "UniProtKB:Q9NT22-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EMILIN-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NT22-1", "PR:Q9NT22-1", "ENSEMBL:ENSP00000332806", "ENSEMBL:ENSP00000332806.3"], "information_content": 100.0}
{"id": "MONDO:0019086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carcinoma of esophagus", "equivalent_identifiers": ["MONDO:0019086", "DOID:1107", "orphanet:70482", "EFO:0002916", "UMLS:C0152018", "MEDDRA:10007425", "MEDDRA:10007444", "MEDDRA:10007445", "MEDDRA:10015366", "MEDDRA:10015372", "MEDDRA:10030155", "MEDDRA:10030157", "NCIT:C3513", "SNOMEDCT:372138000", "medgen:56256", "HP:0011459"], "information_content": 65.6}
{"id": "NCBIGene:388939", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCARE", "equivalent_identifiers": ["NCBIGene:388939", "ENSEMBL:ENSG00000179270", "HGNC:34383", "OMIM:613425", "UMLS:C2681197", "UniProtKB:A6NGG8", "PR:A6NGG8", "ENSEMBL:ENSP00000332809", "ENSEMBL:ENSP00000332809.4", "UMLS:C2934652", "MESH:C550125"], "information_content": 100.0}
{"id": "NCBIGene:11251", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTGDR2", "equivalent_identifiers": ["NCBIGene:11251", "ENSEMBL:ENSG00000183134", "HGNC:4502", "OMIM:604837", "UMLS:C1415238", "UniProtKB:Q9Y5Y4", "PR:Q9Y5Y4", "ENSEMBL:ENSP00000332812", "ENSEMBL:ENSP00000332812.4", "UMLS:C1455377"], "information_content": 95.4}
{"id": "NCBIGene:23768", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FLRT2", "equivalent_identifiers": ["NCBIGene:23768", "ENSEMBL:ENSG00000185070", "HGNC:3761", "OMIM:604807", "UMLS:C1414641", "UniProtKB:O43155", "PR:O43155", "ENSEMBL:ENSP00000332879", "ENSEMBL:ENSP00000332879.4", "ENSEMBL:ENSP00000451050", "ENSEMBL:ENSP00000451050.1", "ENSEMBL:ENSP00000507088", "ENSEMBL:ENSP00000507088.1", "ENSEMBL:ENSP00000507815", "ENSEMBL:ENSP00000507815.1", "UMLS:C1309389", "MESH:C404491"], "information_content": 90.9}
{"id": "NCBIGene:166752", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FREM3", "equivalent_identifiers": ["NCBIGene:166752", "ENSEMBL:ENSG00000183090", "HGNC:25172", "OMIM:608946", "UMLS:C1539532", "UniProtKB:P0C091", "PR:P0C091", "ENSEMBL:ENSP00000332886", "ENSEMBL:ENSP00000332886.5", "UMLS:C3501271", "MESH:C575351"], "information_content": 92.8}
{"id": "UniProtKB:Q9UDW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome b-c1 complex subunit 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UDW1-1", "PR:Q9UDW1-1", "ENSEMBL:ENSP00000332887", "ENSEMBL:ENSP00000332887.6"], "information_content": 100.0}
{"id": "NCBIGene:222487", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADGRG3", "equivalent_identifiers": ["NCBIGene:222487", "ENSEMBL:ENSG00000182885", "HGNC:13728", "OMIM:618441", "UMLS:C1422167", "UniProtKB:B4DVW2", "UMLS:C5226485", "MESH:C000634088", "UniProtKB:F8W8F7", "ENSEMBL:ENSP00000404803", "ENSEMBL:ENSP00000404803.3", "UniProtKB:H3BRU4", "ENSEMBL:ENSP00000456409", "ENSEMBL:ENSP00000456409.1", "UniProtKB:Q86Y34", "PR:Q86Y34", "ENSEMBL:ENSP00000332900", "ENSEMBL:ENSP00000332900.4"], "information_content": 95.4}
{"id": "MONDO:0011937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peeling skin syndrome 4", "equivalent_identifiers": ["MONDO:0011937", "DOID:0070523", "OMIM:607936", "UMLS:C1842797", "UMLS:C4225407", "MESH:C564309", "medgen:895692"], "information_content": 100.0}
{"id": "UniProtKB:A6ND01-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sperm-egg fusion protein Juno isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6ND01-1", "PR:A6ND01-1", "ENSEMBL:ENSP00000332963", "ENSEMBL:ENSP00000332963.5", "ENSEMBL:ENSP00000510041", "ENSEMBL:ENSP00000510041.1"], "information_content": 100.0}
{"id": "UniProtKB:P84022-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mothers against decapentaplegic homolog 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P84022-1", "PR:P84022-1", "ENSEMBL:ENSP00000332973", "ENSEMBL:ENSP00000332973.4"], "information_content": 92.8}
{"id": "UniProtKB:Q9Y5Z0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-secretase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5Z0-1", "PR:Q9Y5Z0-1", "ENSEMBL:ENSP00000332979", "ENSEMBL:ENSP00000332979.6"], "information_content": 100.0}
{"id": "NCBIGene:164684", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WBP2NL", "equivalent_identifiers": ["NCBIGene:164684", "ENSEMBL:ENSG00000183066", "HGNC:28389", "OMIM:610981", "UMLS:C1823657", "UniProtKB:Q6ICG8", "PR:Q6ICG8", "ENSEMBL:ENSP00000328800", "ENSEMBL:ENSP00000328800.5", "ENSEMBL:ENSP00000332983", "ENSEMBL:ENSP00000332983.9", "ENSEMBL:ENSP00000401002", "ENSEMBL:ENSP00000401002.1", "UMLS:C1957116", "MESH:C519840"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWB4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine protease 55 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWB4-1", "PR:Q6UWB4-1", "ENSEMBL:ENSP00000333003", "ENSEMBL:ENSP00000333003.3"], "information_content": 100.0}
{"id": "UniProtKB:O75177-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-responsive transactivator isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75177-1", "PR:O75177-1", "ENSEMBL:ENSP00000333012", "ENSEMBL:ENSP00000333012.3"], "information_content": 100.0}
{"id": "NCBIGene:130502", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTC32", "equivalent_identifiers": ["NCBIGene:130502", "ENSEMBL:ENSG00000183891", "HGNC:32954", "UMLS:C1823537", "UniProtKB:Q5I0X7", "PR:Q5I0X7", "ENSEMBL:ENSP00000333018", "ENSEMBL:ENSP00000333018.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N142-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenylosuccinate synthetase isozyme 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N142-2", "PR:Q8N142-2", "ENSEMBL:ENSP00000333019", "ENSEMBL:ENSP00000333019.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BWX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PHD finger protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWX1-1", "PR:Q9BWX1-1", "ENSEMBL:ENSP00000333024", "ENSEMBL:ENSP00000333024.3"], "information_content": 100.0}
{"id": "NCBIGene:400258", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C14orf180", "equivalent_identifiers": ["NCBIGene:400258", "ENSEMBL:ENSG00000184601", "HGNC:33795", "OMIM:619392", "UMLS:C2240305", "UniProtKB:B4DN93", "UniProtKB:J3KNP8", "ENSEMBL:ENSP00000333041", "ENSEMBL:ENSP00000333041.2", "ENSEMBL:ENSP00000481876", "ENSEMBL:ENSP00000481876.2", "UniProtKB:Q8N912", "PR:Q8N912", "ENSEMBL:ENSP00000386487", "ENSEMBL:ENSP00000386487.1", "ENSEMBL:ENSP00000452502", "ENSEMBL:ENSP00000452502.1", "ENSEMBL:ENSP00000480567", "ENSEMBL:ENSP00000480567.1", "ENSEMBL:ENSP00000487058", "ENSEMBL:ENSP00000487058.1"]}
{"id": "NCBIGene:344018", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FIGLA", "equivalent_identifiers": ["NCBIGene:344018", "ENSEMBL:ENSG00000183733", "HGNC:24669", "OMIM:608697", "UMLS:C1825298", "UniProtKB:Q6QHK4", "PR:Q6QHK4", "ENSEMBL:ENSP00000333097", "ENSEMBL:ENSP00000333097.6", "UMLS:C2714369", "MESH:C539077"], "information_content": 100.0}
{"id": "UniProtKB:O60733-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "85/88 kDa calcium-independent phospholipase A2 isoform hLH-iPLA2 (human)", "equivalent_identifiers": ["UniProtKB:O60733-1", "PR:O60733-1", "ENSEMBL:ENSP00000333142", "ENSEMBL:ENSP00000333142.3", "ENSEMBL:ENSP00000499555", "ENSEMBL:ENSP00000499555.1", "ENSEMBL:ENSP00000499665", "ENSEMBL:ENSP00000499665.1", "ENSEMBL:ENSP00000499712", "ENSEMBL:ENSP00000499712.1"], "information_content": 100.0}
{"id": "MONDO:0017719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gangliosidosis", "equivalent_identifiers": ["MONDO:0017719", "DOID:2368", "orphanet:309144", "UMLS:C0017083", "MESH:D005733", "NCIT:C195514", "SNOMEDCT:50967008", "medgen:42149", "icd11.foundation:797306953", "ICD10:E75.10"], "information_content": 81.7}
{"id": "UniProtKB:P01242-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "growth hormone variant isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P01242-2", "PR:P01242-2", "ENSEMBL:ENSP00000333157", "ENSEMBL:ENSP00000333157.7"], "information_content": 100.0}
{"id": "UniProtKB:A6NNE9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase MARCHF11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NNE9-1", "PR:A6NNE9-1", "ENSEMBL:ENSP00000333181", "ENSEMBL:ENSP00000333181.7"], "information_content": 100.0}
{"id": "NCBIGene:653657", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MBD3L3", "equivalent_identifiers": ["NCBIGene:653657", "ENSEMBL:ENSG00000182315", "HGNC:37205", "UMLS:C3470940", "UniProtKB:A6NE82", "ENSEMBL:ENSP00000333183", "ENSEMBL:ENSP00000333183.4", "ENSEMBL:ENSP00000508603", "ENSEMBL:ENSP00000508603.1", "ENSEMBL:ENSP00000509049", "ENSEMBL:ENSP00000509049.1"]}
{"id": "NCBIGene:390649", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4F15", "equivalent_identifiers": ["NCBIGene:390649", "ENSEMBL:ENSG00000182854", "HGNC:15078", "UMLS:C1423182", "UniProtKB:A0A126GW41", "UniProtKB:Q8NGB8", "PR:Q8NGB8", "ENSEMBL:ENSP00000333184", "ENSEMBL:ENSP00000333184.4"], "information_content": 100.0}
{"id": "NCBIGene:5104", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINA5", "equivalent_identifiers": ["NCBIGene:5104", "ENSEMBL:ENSG00000188488", "HGNC:8723", "OMIM:601841", "UMLS:C1418370", "UniProtKB:B4DDH1", "UniProtKB:P05154", "PR:P05154", "ENSEMBL:ENSP00000333203", "ENSEMBL:ENSP00000333203.7", "ENSEMBL:ENSP00000450837", "ENSEMBL:ENSP00000450837.1", "ENSEMBL:ENSP00000451126", "ENSEMBL:ENSP00000451126.1", "ENSEMBL:ENSP00000451610", "ENSEMBL:ENSP00000451610.1", "UMLS:C2713669", "MESH:C534934"], "information_content": 87.2}
{"id": "UniProtKB:Q7Z449-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 2U1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z449-1", "PR:Q7Z449-1", "ENSEMBL:ENSP00000333212", "ENSEMBL:ENSP00000333212.6"], "information_content": 100.0}
{"id": "UniProtKB:Q6ECI4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 470 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ECI4-1", "PR:Q6ECI4-1", "ENSEMBL:ENSP00000333223", "ENSEMBL:ENSP00000333223.7", "ENSEMBL:ENSP00000375590", "ENSEMBL:ENSP00000375590.3"], "information_content": 100.0}
{"id": "MONDO:0000387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypochromic microcytic anemia", "equivalent_identifiers": ["MONDO:0000387", "DOID:0050642", "UMLS:C0271901", "MESH:C536357", "MEDDRA:10002083", "MEDDRA:10020972", "MEDDRA:10055199", "MEDDRA:10055212", "SNOMEDCT:44666001", "medgen:124413", "HP:0004840"], "information_content": 89.4}
{"id": "NCBIGene:245911", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFB108B", "equivalent_identifiers": ["NCBIGene:245911", "ENSEMBL:ENSG00000184276", "HGNC:29966", "UMLS:C1539251", "UniProtKB:Q8NET1", "PR:Q8NET1", "ENSEMBL:ENSP00000333234", "ENSEMBL:ENSP00000333234.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15735-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15735-1", "PR:Q15735-1", "ENSEMBL:ENSP00000333262", "ENSEMBL:ENSP00000333262.5"], "information_content": 100.0}
{"id": "NCBIGene:7318", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBA7", "equivalent_identifiers": ["NCBIGene:7318", "ENSEMBL:ENSG00000182179", "HGNC:12471", "OMIM:191325", "UMLS:C1421270", "UniProtKB:P41226", "PR:P41226", "ENSEMBL:ENSP00000333266", "ENSEMBL:ENSP00000333266.3", "UMLS:C2607702", "MESH:C534879"], "information_content": 90.9}
{"id": "UniProtKB:P13056-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor subfamily 2 group C member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13056-1", "PR:P13056-1", "ENSEMBL:ENSP00000333275", "ENSEMBL:ENSP00000333275.4"], "information_content": 100.0}
{"id": "UniProtKB:Q71DI3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Histone H3.2", "equivalent_identifiers": ["UniProtKB:Q71DI3", "PR:Q71DI3", "ENSEMBL:ENSP00000333277", "ENSEMBL:ENSP00000333277.2", "ENSEMBL:ENSP00000358154", "ENSEMBL:ENSP00000358154.1", "ENSEMBL:ENSP00000385479", "ENSEMBL:ENSP00000385479.1", "UMLS:C4688347"], "information_content": 72.0}
{"id": "UniProtKB:Q0VG06-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fanconi anemia core complex-associated protein 100 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q0VG06-1", "PR:Q0VG06-1", "ENSEMBL:ENSP00000333283", "ENSEMBL:ENSP00000333283.8"], "information_content": 100.0}
{"id": "NCBIGene:124976", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPNS2", "equivalent_identifiers": ["NCBIGene:124976", "ENSEMBL:ENSG00000183018", "HGNC:26992", "OMIM:612584", "UMLS:C2240044", "UniProtKB:Q8IVW8", "PR:Q8IVW8", "ENSEMBL:ENSP00000333292", "ENSEMBL:ENSP00000333292.3", "UMLS:C4041956", "MESH:C000598727"], "information_content": 100.0}
{"id": "UniProtKB:P11279-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosome-associated membrane glycoprotein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11279-1", "PR:P11279-1", "ENSEMBL:ENSP00000333298", "ENSEMBL:ENSP00000333298.4"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z5P4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "17-beta-hydroxysteroid dehydrogenase 13 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5P4-1", "PR:Q7Z5P4-1", "ENSEMBL:ENSP00000333300", "ENSEMBL:ENSP00000333300.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6IMI6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sulfotransferase 1C3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IMI6-1", "PR:Q6IMI6-1", "ENSEMBL:ENSP00000333310", "ENSEMBL:ENSP00000333310.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY65-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin alpha-8 chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY65-1", "PR:Q9NY65-1", "ENSEMBL:ENSP00000333326", "ENSEMBL:ENSP00000333326.3"], "information_content": 100.0}
{"id": "NCBIGene:377630", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP17L2", "equivalent_identifiers": ["NCBIGene:377630", "ENSEMBL:ENSG00000223443", "HGNC:34434", "OMIM:610186", "UMLS:C1857782", "UniProtKB:Q6R6M4", "PR:Q6R6M4", "ENSEMBL:ENSP00000333329", "ENSEMBL:ENSP00000333329.3", "UMLS:C1451084", "MESH:C484854"], "information_content": 100.0}
{"id": "NCBIGene:8690", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JRKL", "equivalent_identifiers": ["NCBIGene:8690", "ENSEMBL:ENSG00000183340", "HGNC:6200", "OMIM:603211", "UMLS:C1416532", "UniProtKB:Q9Y4A0", "PR:Q9Y4A0", "ENSEMBL:ENSP00000333350", "ENSEMBL:ENSP00000333350.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5GAN6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive ribonuclease-like protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5GAN6-1", "PR:Q5GAN6-1", "ENSEMBL:ENSP00000333358", "ENSEMBL:ENSP00000333358.5", "ENSEMBL:ENSP00000392996", "ENSEMBL:ENSP00000392996.2", "ENSEMBL:ENSP00000517382", "ENSEMBL:ENSP00000517382.1", "ENSEMBL:ENSP00000517383", "ENSEMBL:ENSP00000517383.1"], "information_content": 100.0}
{"id": "NCBIGene:1769", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAH8", "equivalent_identifiers": ["NCBIGene:1769", "ENSEMBL:ENSG00000124721", "HGNC:2952", "OMIM:603337", "UMLS:C1414103", "UniProtKB:A0A075B6F3", "ENSEMBL:ENSP00000333363", "ENSEMBL:ENSP00000333363.7", "UniProtKB:Q8IU65", "ENSEMBL:ENSP00000362375", "ENSEMBL:ENSP00000362375.4", "UniProtKB:Q96JB1", "PR:Q96JB1"]}
{"id": "NCBIGene:160777", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC60", "equivalent_identifiers": ["NCBIGene:160777", "ENSEMBL:ENSG00000183273", "HGNC:28610", "UMLS:C1824585", "UniProtKB:Q8IWA6", "PR:Q8IWA6", "ENSEMBL:ENSP00000333374", "ENSEMBL:ENSP00000333374.2"], "information_content": 100.0}
{"id": "MONDO:0013158", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6", "equivalent_identifiers": ["MONDO:0013158", "DOID:0111242", "OMIM:613154", "UMLS:C3150414", "NCIT:C126743", "medgen:461764"], "information_content": 100.0}
{"id": "UniProtKB:Q70EL2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 45 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q70EL2-1", "PR:Q70EL2-1", "ENSEMBL:ENSP00000333376", "ENSEMBL:ENSP00000333376.6", "ENSEMBL:ENSP00000424372", "ENSEMBL:ENSP00000424372.1"], "information_content": 100.0}
{"id": "MONDO:0013620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 16", "equivalent_identifiers": ["MONDO:0013620", "DOID:0110682", "OMIM:614198", "UMLS:C3280112", "medgen:481742"], "information_content": 100.0}
{"id": "UniProtKB:Q5FYB1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arylsulfatase I isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5FYB1-1", "PR:Q5FYB1-1", "ENSEMBL:ENSP00000333395", "ENSEMBL:ENSP00000333395.7"], "information_content": 100.0}
{"id": "NCBIGene:64976", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL40", "equivalent_identifiers": ["NCBIGene:64976", "ENSEMBL:ENSG00000185608", "HGNC:14491", "OMIM:605089", "UMLS:C1422697", "UniProtKB:Q9NQ50", "PR:Q9NQ50", "ENSEMBL:ENSP00000333401", "ENSEMBL:ENSP00000333401.3", "UMLS:C1308807", "MESH:C115777"], "information_content": 92.8}
{"id": "UniProtKB:Q8WVK7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spindle and kinetochore-associated protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVK7-1", "PR:Q8WVK7-1", "ENSEMBL:ENSP00000333433", "ENSEMBL:ENSP00000333433.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQ50-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "three prime repair exonuclease 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQ50-2", "PR:Q9BQ50-2", "ENSEMBL:ENSP00000333441", "ENSEMBL:ENSP00000333441.2", "ENSEMBL:ENSP00000345218", "ENSEMBL:ENSP00000345218.2", "ENSEMBL:ENSP00000359251", "ENSEMBL:ENSP00000359251.2", "ENSEMBL:ENSP00000377442", "ENSEMBL:ENSP00000377442.2"], "information_content": 100.0}
{"id": "UniProtKB:P43356", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAGA2_HUMAN Melanoma-associated antigen 2 (sprot)", "equivalent_identifiers": ["UniProtKB:P43356", "PR:P43356", "ENSEMBL:ENSP00000333487", "ENSEMBL:ENSP00000333487.2", "ENSEMBL:ENSP00000359316", "ENSEMBL:ENSP00000359316.2", "ENSEMBL:ENSP00000469919", "ENSEMBL:ENSP00000469919.1", "ENSEMBL:ENSP00000470872", "ENSEMBL:ENSP00000470872.1", "ENSEMBL:ENSP00000480491", "ENSEMBL:ENSP00000480491.1", "ENSEMBL:ENSP00000480738", "ENSEMBL:ENSP00000480738.1", "ENSEMBL:ENSP00000484290", "ENSEMBL:ENSP00000484290.1", "ENSEMBL:ENSP00000485391", "ENSEMBL:ENSP00000485391.1", "ENSEMBL:ENSP00000485541", "ENSEMBL:ENSP00000485541.1", "ENSEMBL:ENSP00000507594", "ENSEMBL:ENSP00000507594.1", "ENSEMBL:ENSP00000507899", "ENSEMBL:ENSP00000507899.1", "ENSEMBL:ENSP00000517963", "ENSEMBL:ENSP00000517963.1", "ENSEMBL:ENSP00000517964", "ENSEMBL:ENSP00000517964.1", "ENSEMBL:ENSP00000517967", "ENSEMBL:ENSP00000517967.1", "UMLS:C3539826"], "information_content": 100.0}
{"id": "NCBIGene:3751", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCND2", "equivalent_identifiers": ["NCBIGene:3751", "ENSEMBL:ENSG00000184408", "HGNC:6238", "OMIM:605410", "UMLS:C1416561", "UniProtKB:A4D0V9", "UMLS:C1566252", "MESH:C497018", "UniProtKB:Q9NZV8", "PR:Q9NZV8", "ENSEMBL:ENSP00000333496", "ENSEMBL:ENSP00000333496.4"], "information_content": 92.8}
{"id": "NCBIGene:57419", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC24A3", "equivalent_identifiers": ["NCBIGene:57419", "ENSEMBL:ENSG00000185052", "HGNC:10977", "OMIM:609839", "UMLS:C1420148", "UniProtKB:Q9HC58", "PR:Q9HC58", "ENSEMBL:ENSP00000333519", "ENSEMBL:ENSP00000333519.5", "UMLS:C1448032", "MESH:C430914"], "information_content": 95.4}
{"id": "UniProtKB:P24903-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 2F1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P24903-1", "PR:P24903-1", "ENSEMBL:ENSP00000333534", "ENSEMBL:ENSP00000333534.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TD10-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mirror-image polydactyly gene 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TD10-1", "PR:Q8TD10-1", "ENSEMBL:ENSP00000333539", "ENSEMBL:ENSP00000333539.7", "ENSEMBL:ENSP00000379589", "ENSEMBL:ENSP00000379589.2", "ENSEMBL:ENSP00000506738", "ENSEMBL:ENSP00000506738.1", "ENSEMBL:ENSP00000513762", "ENSEMBL:ENSP00000513762.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15907-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-11B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15907-1", "PR:Q15907-1", "ENSEMBL:ENSP00000333547", "ENSEMBL:ENSP00000333547.5"], "information_content": 100.0}
{"id": "NCBIGene:11212", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLPBP", "equivalent_identifiers": ["NCBIGene:11212", "ENSEMBL:ENSG00000147471", "HGNC:9457", "OMIM:604436", "UMLS:C1418949", "UniProtKB:O94903", "PR:O94903", "ENSEMBL:ENSP00000333551", "ENSEMBL:ENSP00000333551.3", "UMLS:C1312901", "MESH:C485670"], "information_content": 81.7}
{"id": "MONDO:0009394", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile Paget disease", "equivalent_identifiers": ["MONDO:0009394", "DOID:0081368", "OMIM:239000", "orphanet:2801", "UMLS:C0268414", "MESH:C537701", "MEDDRA:10078977", "NCIT:C131861", "SNOMEDCT:9723006", "medgen:75678", "icd11.foundation:762002965"], "information_content": 100.0}
{"id": "MONDO:0009288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease Ib", "equivalent_identifiers": ["MONDO:0009288", "DOID:0081330", "DOID:0081331", "OMIM:232220", "OMIM:232240", "orphanet:79259", "UMLS:C0268146", "UMLS:C0342749", "MESH:C562594", "MESH:C562805", "MEDDRA:10056897", "NCIT:C122661", "SNOMEDCT:237965005", "SNOMEDCT:30102006", "medgen:78644"], "information_content": 100.0}
{"id": "MONDO:0009287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to glucose-6-phosphatase deficiency type IA", "equivalent_identifiers": ["MONDO:0009287", "DOID:2749", "OMIM:232200", "orphanet:79258", "UMLS:C2919796", "MESH:C538655", "MEDDRA:10056911", "NCIT:C162398", "SNOMEDCT:444707001", "medgen:415885"], "information_content": 100.0}
{"id": "NCBIGene:340146", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC35D3", "equivalent_identifiers": ["NCBIGene:340146", "ENSEMBL:ENSG00000182747", "HGNC:15621", "OMIM:612519", "UMLS:C1423626", "UniProtKB:B7Z9Y0", "UniProtKB:Q5M8T2", "PR:Q5M8T2", "ENSEMBL:ENSP00000333591", "ENSEMBL:ENSP00000333591.4"], "information_content": 100.0}
{"id": "MONDO:0030922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 56", "equivalent_identifiers": ["MONDO:0030922", "DOID:0080226", "OMIM:617854", "UMLS:C4693389", "medgen:1638835"], "information_content": 100.0}
{"id": "NCBIGene:11247", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NXPH4", "equivalent_identifiers": ["NCBIGene:11247", "ENSEMBL:ENSG00000182379", "HGNC:8078", "OMIM:604637", "UMLS:C1417905", "UniProtKB:O95158", "PR:O95158", "ENSEMBL:ENSP00000333593", "ENSEMBL:ENSP00000333593.6", "UMLS:C1612148"], "information_content": 90.9}
{"id": "UniProtKB:Q13330-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metastasis-associated protein MTA1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13330-1", "PR:Q13330-1", "ENSEMBL:ENSP00000333633", "ENSEMBL:ENSP00000333633.7"], "information_content": 95.4}
{"id": "NCBIGene:282616", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFNL2", "equivalent_identifiers": ["NCBIGene:282616", "ENSEMBL:ENSG00000183709", "HGNC:18364", "OMIM:607401", "UMLS:C1425474", "UniProtKB:Q8IZJ0", "PR:Q8IZJ0", "ENSEMBL:ENSP00000333639", "ENSEMBL:ENSP00000333639.5", "ENSEMBL:ENSP00000517479", "ENSEMBL:ENSP00000517479.1", "UMLS:C1174093", "UMLS:C3539861"], "information_content": 95.4}
{"id": "UniProtKB:O00167-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase EYA2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00167-1", "PR:O00167-1", "ENSEMBL:ENSP00000333640", "ENSEMBL:ENSP00000333640.5"], "information_content": 100.0}
{"id": "UniProtKB:P20592-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon-induced GTP-binding protein Mx2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20592-1", "PR:P20592-1", "ENSEMBL:ENSP00000333657", "ENSEMBL:ENSP00000333657.3", "ENSEMBL:ENSP00000389256", "ENSEMBL:ENSP00000389256.2", "ENSEMBL:ENSP00000506423", "ENSEMBL:ENSP00000506423.1"], "information_content": 100.0}
{"id": "UniProtKB:P09110-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3-ketoacyl-CoA thiolase, peroxisomal isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P09110-1", "PR:P09110-1", "ENSEMBL:ENSP00000333664", "ENSEMBL:ENSP00000333664.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9BV57-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acireductone dioxygenase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BV57-1", "PR:Q9BV57-1", "ENSEMBL:ENSP00000333666", "ENSEMBL:ENSP00000333666.3"], "information_content": 100.0}
{"id": "UniProtKB:P34897-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine hydroxymethyltransferase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P34897-1", "PR:P34897-1", "ENSEMBL:ENSP00000333667", "ENSEMBL:ENSP00000333667.3"], "information_content": 100.0}
{"id": "NCBIGene:150372", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NFAM1", "equivalent_identifiers": ["NCBIGene:150372", "ENSEMBL:ENSG00000235568", "HGNC:29872", "OMIM:608740", "UMLS:C1538055", "UniProtKB:Q8NET5", "PR:Q8NET5", "ENSEMBL:ENSP00000333680", "ENSEMBL:ENSP00000333680.5", "UMLS:C1259228", "MESH:C475087"], "information_content": 95.4}
{"id": "UniProtKB:Q15759-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15759-1", "PR:Q15759-1", "ENSEMBL:ENSP00000333685", "ENSEMBL:ENSP00000333685.6", "ENSEMBL:ENSP00000379113", "ENSEMBL:ENSP00000379113.1"], "information_content": 100.0}
{"id": "NCBIGene:374395", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM179B", "equivalent_identifiers": ["NCBIGene:374395", "ENSEMBL:ENSG00000185475", "HGNC:33744", "UMLS:C2240089", "UniProtKB:G3V185", "ENSEMBL:ENSP00000433055", "ENSEMBL:ENSP00000433055.1", "UniProtKB:Q7Z7N9", "PR:Q7Z7N9", "ENSEMBL:ENSP00000333697", "ENSEMBL:ENSP00000333697.3"], "information_content": 90.9}
{"id": "NCBIGene:390260", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR6X1", "equivalent_identifiers": ["NCBIGene:390260", "ENSEMBL:ENSG00000221931", "HGNC:14737", "UMLS:C1422887", "UniProtKB:A0A126GVM0", "UniProtKB:Q8NH79", "PR:Q8NH79", "ENSEMBL:ENSP00000333724", "ENSEMBL:ENSP00000333724.2"], "information_content": 100.0}
{"id": "MONDO:0001641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe pre-eclampsia", "equivalent_identifiers": ["MONDO:0001641", "DOID:13129", "UMLS:C0156669", "UMLS:C0341950", "NCIT:C112843", "SNOMEDCT:46764007", "medgen:574734", "icd11.foundation:479404771", "ICD9:642.50"], "information_content": 95.4}
{"id": "MONDO:0005484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colorectal adenoma", "equivalent_identifiers": ["MONDO:0005484", "DOID:0050860", "DOID:0050914", "EFO:0005406", "UMLS:C1302401", "MEDDRA:10087276", "NCIT:C5673", "SNOMEDCT:399432003", "medgen:224904"], "information_content": 76.2}
{"id": "NCBIGene:23742", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPAP1", "equivalent_identifiers": ["NCBIGene:23742", "ENSEMBL:ENSG00000185823", "HGNC:1190", "OMIM:610922", "UMLS:C1412887", "UniProtKB:Q9NZP6", "PR:Q9NZP6", "ENSEMBL:ENSP00000333735", "ENSEMBL:ENSP00000333735.3", "UMLS:C2935302", "MESH:C550773"], "information_content": 100.0}
{"id": "UniProtKB:P35613-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "basigin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35613-1", "PR:P35613-1", "ENSEMBL:ENSP00000333769", "ENSEMBL:ENSP00000333769.3"], "information_content": 100.0}
{"id": "NCBIGene:90827", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF479", "equivalent_identifiers": ["NCBIGene:90827", "ENSEMBL:ENSG00000185177", "HGNC:23258", "OMIM:617444", "UMLS:C1428020", "UniProtKB:Q96JC4", "PR:Q96JC4", "ENSEMBL:ENSP00000324518", "ENSEMBL:ENSP00000324518.6", "ENSEMBL:ENSP00000333776", "ENSEMBL:ENSP00000333776.4", "UMLS:C4553834", "MESH:C000707034"], "information_content": 100.0}
{"id": "UniProtKB:P34910-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein EVI2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P34910-1", "PR:P34910-1", "ENSEMBL:ENSP00000333779", "ENSEMBL:ENSP00000333779.4", "ENSEMBL:ENSP00000462682", "ENSEMBL:ENSP00000462682.1", "ENSEMBL:ENSP00000517226", "ENSEMBL:ENSP00000517226.1", "ENSEMBL:ENSP00000517227", "ENSEMBL:ENSP00000517227.1"], "information_content": 100.0}
{"id": "NCBIGene:117194", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRGPRX2", "equivalent_identifiers": ["NCBIGene:117194", "ENSEMBL:ENSG00000183695", "HGNC:17983", "OMIM:607228", "UMLS:C1826280", "UniProtKB:Q96LB1", "PR:Q96LB1", "ENSEMBL:ENSP00000333800", "ENSEMBL:ENSP00000333800.2", "UMLS:C1433192", "MESH:C480039"], "information_content": 100.0}
{"id": "UniProtKB:Q96NL3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 599 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NL3-1", "PR:Q96NL3-1", "ENSEMBL:ENSP00000333802", "ENSEMBL:ENSP00000333802.6"], "information_content": 100.0}
{"id": "NCBIGene:79087", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALG12", "equivalent_identifiers": ["NCBIGene:79087", "ENSEMBL:ENSG00000182858", "HGNC:19358", "OMIM:607144", "UMLS:C1426190", "UniProtKB:Q9BV10", "PR:Q9BV10", "ENSEMBL:ENSP00000333813", "ENSEMBL:ENSP00000333813.5", "UMLS:C5690340", "MESH:C000721128"], "information_content": 88.2}
{"id": "NCBIGene:4158", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MC2R", "equivalent_identifiers": ["NCBIGene:4158", "ENSEMBL:ENSG00000185231", "HGNC:6930", "OMIM:607397", "UMLS:C1417062", "UniProtKB:Q01718", "PR:Q01718", "ENSEMBL:ENSP00000333821", "ENSEMBL:ENSP00000333821.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZR5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CKLF-like MARVEL transmembrane domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZR5-1", "PR:Q8IZR5-1", "ENSEMBL:ENSP00000333833", "ENSEMBL:ENSP00000333833.4"], "information_content": 100.0}
{"id": "NCBIGene:55137", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FIGN", "equivalent_identifiers": ["NCBIGene:55137", "ENSEMBL:ENSG00000182263", "HGNC:13285", "OMIM:605295", "UMLS:C1421922", "UniProtKB:Q5HY92", "PR:Q5HY92", "ENSEMBL:ENSP00000333836", "ENSEMBL:ENSP00000333836.3", "UMLS:C4548252", "MESH:C000613810"], "information_content": 95.4}
{"id": "MONDO:0009076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 1A", "equivalent_identifiers": ["MONDO:0009076", "DOID:0110475", "OMIM:220290", "UMLS:C2673759", "UMLS:C2673760", "UMLS:C2673761", "MESH:C567134", "NCIT:C129022", "medgen:388720"], "information_content": 100.0}
{"id": "NCBIGene:6182", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL12", "equivalent_identifiers": ["NCBIGene:6182", "ENSEMBL:ENSG00000262814", "HGNC:10378", "OMIM:602375", "UMLS:C1419694", "UniProtKB:P52815", "PR:P52815", "ENSEMBL:ENSP00000333837", "ENSEMBL:ENSP00000333837.3", "UMLS:C1307715", "MESH:C099418"], "information_content": 95.4}
{"id": "UniProtKB:Q6PI97-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein HOATZ isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6PI97-3", "PR:Q6PI97-3", "ENSEMBL:ENSP00000333845", "ENSEMBL:ENSP00000333845.6"], "information_content": 100.0}
{"id": "NCBIGene:337979", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP22-1", "equivalent_identifiers": ["NCBIGene:337979", "ENSEMBL:ENSG00000186924", "HGNC:18947", "UMLS:C1425915", "UniProtKB:Q3MIV0", "PR:Q3MIV0", "ENSEMBL:ENSP00000333887", "ENSEMBL:ENSP00000333887.2"], "information_content": 100.0}
{"id": "UniProtKB:O75676-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal protein S6 kinase alpha-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75676-1", "PR:O75676-1", "ENSEMBL:ENSP00000333896", "ENSEMBL:ENSP00000333896.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWZ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oncoprotein-induced transcript 3 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWZ8-1", "PR:Q8WWZ8-1", "ENSEMBL:ENSP00000333900", "ENSEMBL:ENSP00000333900.5"], "information_content": 100.0}
{"id": "NCBIGene:387885", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP73", "equivalent_identifiers": ["NCBIGene:387885", "ENSEMBL:ENSG00000186710", "HGNC:37100", "UMLS:C2828944", "UniProtKB:A6NFT4", "PR:A6NFT4", "ENSEMBL:ENSP00000333915", "ENSEMBL:ENSP00000333915.6"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6A9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B- and T-lymphocyte attenuator isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6A9-1", "PR:Q7Z6A9-1", "ENSEMBL:ENSP00000333919", "ENSEMBL:ENSP00000333919.5"], "information_content": 100.0}
{"id": "NCBIGene:7270", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTF1", "equivalent_identifiers": ["NCBIGene:7270", "ENSEMBL:ENSG00000125482", "HGNC:12397", "OMIM:600777", "UMLS:C1421218", "UniProtKB:A0A087WY09", "ENSEMBL:ENSP00000481441", "ENSEMBL:ENSP00000481441.1", "UniProtKB:Q15361", "PR:Q15361", "ENSEMBL:ENSP00000333920", "ENSEMBL:ENSP00000333920.2", "UMLS:C1610981", "MESH:C504003"], "information_content": 100.0}
{"id": "UniProtKB:O15440-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family C member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15440-1", "PR:O15440-1", "ENSEMBL:ENSP00000333926", "ENSEMBL:ENSP00000333926.6"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z4G4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA (guanine(10)-N(2))-methyltransferase homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4G4-1", "PR:Q7Z4G4-1", "ENSEMBL:ENSP00000333934", "ENSEMBL:ENSP00000333934.5"], "information_content": 100.0}
{"id": "UniProtKB:Q0ZGT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nexilin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q0ZGT2-1", "PR:Q0ZGT2-1", "ENSEMBL:ENSP00000333938", "ENSEMBL:ENSP00000333938.7"], "information_content": 100.0}
{"id": "MONDO:0032879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megabladder, congenital", "equivalent_identifiers": ["MONDO:0032879", "DOID:0112014", "OMIM:618719", "EFO:0010655", "UMLS:C5231472", "medgen:1684806"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2Z9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2Z9-1", "PR:Q9Y2Z9-1", "ENSEMBL:ENSP00000333946", "ENSEMBL:ENSP00000333946.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7LFX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carbohydrate sulfotransferase 15 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7LFX5-1", "PR:Q7LFX5-1", "ENSEMBL:ENSP00000333947", "ENSEMBL:ENSP00000333947.6", "ENSEMBL:ENSP00000402394", "ENSEMBL:ENSP00000402394.1"], "information_content": 100.0}
{"id": "NCBIGene:91582", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS19BP1", "equivalent_identifiers": ["NCBIGene:91582", "ENSEMBL:ENSG00000187051", "HGNC:28749", "OMIM:610225", "UMLS:C1826912", "UniProtKB:Q86WX3", "PR:Q86WX3", "ENSEMBL:ENSP00000333948", "ENSEMBL:ENSP00000333948.3", "UMLS:C2001379", "MESH:C524448"], "information_content": 100.0}
{"id": "NCBIGene:254910", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCE5A", "equivalent_identifiers": ["NCBIGene:254910", "ENSEMBL:ENSG00000186207", "HGNC:16614", "OMIM:612619", "UMLS:C1537546", "UniProtKB:Q5TCM9", "PR:Q5TCM9", "ENSEMBL:ENSP00000333952", "ENSEMBL:ENSP00000333952.2", "UMLS:C2000561", "MESH:C524772"], "information_content": 100.0}
{"id": "NCBIGene:348303", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SELENOV", "equivalent_identifiers": ["NCBIGene:348303", "ENSEMBL:ENSG00000186838", "HGNC:30399", "OMIM:607919", "UMLS:C1842828", "UniProtKB:P59797", "PR:P59797", "ENSEMBL:ENSP00000333956", "ENSEMBL:ENSP00000333956.4"], "information_content": 100.0}
{"id": "NCBIGene:388567", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF749", "equivalent_identifiers": ["NCBIGene:388567", "ENSEMBL:ENSG00000186230", "HGNC:32783", "UMLS:C1824034", "UniProtKB:O43361", "PR:O43361", "ENSEMBL:ENSP00000333980", "ENSEMBL:ENSP00000333980.4"], "information_content": 100.0}
{"id": "MONDO:0001647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign renovascular hypertension", "equivalent_identifiers": ["MONDO:0001647", "DOID:13145", "UMLS:C0155621", "MEDDRA:10004450", "medgen:1843496", "icd11.foundation:1396824741", "ICD9:405.11"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZM8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear distribution protein nudE-like 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZM8-1", "PR:Q9GZM8-1", "ENSEMBL:ENSP00000333982", "ENSEMBL:ENSP00000333982.7"], "information_content": 100.0}
{"id": "UniProtKB:Q13061-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "triadin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13061-1", "PR:Q13061-1", "ENSEMBL:ENSP00000333984", "ENSEMBL:ENSP00000333984.5"], "information_content": 100.0}
{"id": "NCBIGene:83902", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP17-1", "equivalent_identifiers": ["NCBIGene:83902", "ENSEMBL:ENSG00000186860", "HGNC:18917", "UMLS:C1425885", "UniProtKB:Q9BYP8", "PR:Q9BYP8", "ENSEMBL:ENSP00000333993", "ENSEMBL:ENSP00000333993.3", "ENSEMBL:ENSP00000460320", "ENSEMBL:ENSP00000460320.1", "ENSEMBL:ENSP00000517781", "ENSEMBL:ENSP00000517781.1"], "information_content": 100.0}
{"id": "MONDO:0016358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerodactyly", "equivalent_identifiers": ["MONDO:0016358", "DOID:1577", "orphanet:220402", "EFO:1001017", "UMLS:C0150988", "UMLS:C0748540", "UMLS:C5574860", "MESH:D045745", "MEDDRA:10000606", "NCIT:C197966", "SNOMEDCT:201051000", "SNOMEDCT:298285004", "SNOMEDCT:299276009", "medgen:148187", "ICD10:L94.3", "HP:0011838"], "information_content": 95.4}
{"id": "UniProtKB:P54257-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "huntingtin-associated protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P54257-2", "PR:P54257-2", "ENSEMBL:ENSP00000334002", "ENSEMBL:ENSP00000334002.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULD6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein inturned isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULD6-1", "PR:Q9ULD6-1", "ENSEMBL:ENSP00000334003", "ENSEMBL:ENSP00000334003.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVD7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-parvin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVD7-1", "PR:Q9NVD7-1", "ENSEMBL:ENSP00000334008", "ENSEMBL:ENSP00000334008.9"], "information_content": 100.0}
{"id": "UniProtKB:Q5UCC4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ER membrane protein complex subunit 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5UCC4-1", "PR:Q5UCC4-1", "ENSEMBL:ENSP00000334037", "ENSEMBL:ENSP00000334037.6"], "information_content": 100.0}
{"id": "UniProtKB:Q6PCB5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase RSBN1L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PCB5-1", "PR:Q6PCB5-1", "ENSEMBL:ENSP00000334040", "ENSEMBL:ENSP00000334040.7"], "information_content": 100.0}
{"id": "UniProtKB:Q86UU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tachykinin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UU9-1", "PR:Q86UU9-1", "ENSEMBL:ENSP00000334042", "ENSEMBL:ENSP00000334042.4"], "information_content": 100.0}
{"id": "NCBIGene:353164", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R42", "equivalent_identifiers": ["NCBIGene:353164", "ENSEMBL:ENSG00000186136", "HGNC:18888", "OMIM:613966", "UMLS:C1425857", "UniProtKB:A0A0G2JPZ2", "UniProtKB:Q7RTR8", "PR:Q7RTR8", "ENSEMBL:ENSP00000334050", "ENSEMBL:ENSP00000334050.1", "ENSEMBL:ENSP00000484611", "ENSEMBL:ENSP00000484611.1"], "information_content": 100.0}
{"id": "UniProtKB:P38405-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein G(olf) subunit alpha isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P38405-2", "PR:P38405-2", "ENSEMBL:ENSP00000334051", "ENSEMBL:ENSP00000334051.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPT5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exocyst complex component 7 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPT5-3", "PR:Q9UPT5-3", "ENSEMBL:ENSP00000334100", "ENSEMBL:ENSP00000334100.6"], "information_content": 100.0}
{"id": "NCBIGene:207063", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DHRSX", "equivalent_identifiers": ["NCBIGene:207063", "ENSEMBL:ENSG00000169084", "HGNC:18399", "OMIM:301034", "UMLS:C1425497", "UniProtKB:Q8N5I4", "PR:Q8N5I4", "ENSEMBL:ENSP00000334113", "ENSEMBL:ENSP00000334113.5", "ENSEMBL:ENSP00000518604", "ENSEMBL:ENSP00000518604.1"], "information_content": 95.4}
{"id": "NCBIGene:128360", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10T2", "equivalent_identifiers": ["NCBIGene:128360", "ENSEMBL:ENSG00000186306", "HGNC:14816", "UMLS:C1422962", "UniProtKB:A0A126GV74", "UniProtKB:Q8NGX3", "PR:Q8NGX3", "ENSEMBL:ENSP00000334115", "ENSEMBL:ENSP00000334115.1"], "information_content": 100.0}
{"id": "NCBIGene:2248", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGF3", "equivalent_identifiers": ["NCBIGene:2248", "ENSEMBL:ENSG00000186895", "HGNC:3681", "OMIM:164950", "UMLS:C0812290", "UniProtKB:A0A7U3JVY0", "UniProtKB:P11487", "PR:P11487", "ENSEMBL:ENSP00000334122", "ENSEMBL:ENSP00000334122.2", "UMLS:C0208989", "MESH:C496444"], "information_content": 95.4}
{"id": "NCBIGene:388531", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RGS9BP", "equivalent_identifiers": ["NCBIGene:388531", "ENSEMBL:ENSG00000186326", "HGNC:30304", "OMIM:607814", "UMLS:C1826821", "UniProtKB:Q6ZS82", "PR:Q6ZS82", "ENSEMBL:ENSP00000334134", "ENSEMBL:ENSP00000334134.3", "UMLS:C1143015", "MESH:C464657"], "information_content": 100.0}
{"id": "UniProtKB:Q6PID8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch domain-containing protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PID8-1", "PR:Q6PID8-1", "ENSEMBL:ENSP00000334140", "ENSEMBL:ENSP00000334140.4"], "information_content": 100.0}
{"id": "UniProtKB:P13726-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tissue factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13726-1", "PR:P13726-1", "ENSEMBL:ENSP00000334145", "ENSEMBL:ENSP00000334145.7"], "information_content": 100.0}
{"id": "MONDO:0009234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "FLAUJEAC TRAIT", "equivalent_identifiers": ["MONDO:0009234", "DOID:0111676", "OMIM:228960", "orphanet:483", "UMLS:C0272340", "UMLS:C1856719", "UMLS:C2673570", "UMLS:C2673571", "UMLS:C2673572", "MESH:C537060", "MESH:C567116", "NCIT:C98946", "SNOMEDCT:27312002", "medgen:75780", "icd11.foundation:453135247", "HP:0005527"], "information_content": 100.0}
{"id": "UniProtKB:Q64LD2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 25 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q64LD2-1", "PR:Q64LD2-1", "ENSEMBL:ENSP00000334148", "ENSEMBL:ENSP00000334148.6", "ENSEMBL:ENSP00000385540", "ENSEMBL:ENSP00000385540.3", "ENSEMBL:ENSP00000450661", "ENSEMBL:ENSP00000450661.1"], "information_content": 100.0}
{"id": "MONDO:0007205", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diaphyseal medullary stenosis-bone malignancy syndrome", "equivalent_identifiers": ["MONDO:0007205", "DOID:0080664", "OMIM:112250", "orphanet:85182", "UMLS:C1862177", "MESH:C536169", "NCIT:C122660", "medgen:350613"], "information_content": 100.0}
{"id": "NCBIGene:23180", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RFTN1", "equivalent_identifiers": ["NCBIGene:23180", "ENSEMBL:ENSG00000131378", "HGNC:30278", "OMIM:618210", "UMLS:C1826809", "UniProtKB:Q14699", "PR:Q14699", "ENSEMBL:ENSP00000334153", "ENSEMBL:ENSP00000334153.4", "UMLS:C1310832", "MESH:C476398", "UniProtKB:Q8N5I0"], "information_content": 95.4}
{"id": "NCBIGene:55693", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KDM4D", "equivalent_identifiers": ["NCBIGene:55693", "ENSEMBL:ENSG00000186280", "HGNC:25498", "OMIM:609766", "UMLS:C1428494", "UniProtKB:Q6B0I6", "PR:Q6B0I6", "ENSEMBL:ENSP00000334181", "ENSEMBL:ENSP00000334181.5", "ENSEMBL:ENSP00000460897", "ENSEMBL:ENSP00000460897.1", "ENSEMBL:ENSP00000482224", "ENSEMBL:ENSP00000482224.1", "UMLS:C1959021", "MESH:C521694"], "information_content": 100.0}
{"id": "UniProtKB:Q96DN2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "von Willebrand factor C and EGF domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DN2-1", "PR:Q96DN2-1", "ENSEMBL:ENSP00000334186", "ENSEMBL:ENSP00000334186.5"], "information_content": 100.0}
{"id": "MONDO:0010191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "von Willebrand disease 3", "equivalent_identifiers": ["MONDO:0010191", "DOID:0111054", "OMIM:277480", "orphanet:166096", "UMLS:C1264041", "MESH:D056729", "NCIT:C85213", "SNOMEDCT:128108002", "medgen:266075", "ICD10:D68.03"], "information_content": 100.0}
{"id": "NCBIGene:353137", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCE1F", "equivalent_identifiers": ["NCBIGene:353137", "ENSEMBL:ENSG00000240386", "HGNC:29467", "OMIM:612608", "UMLS:C1537535", "UniProtKB:Q5T754", "PR:Q5T754", "ENSEMBL:ENSP00000334187", "ENSEMBL:ENSP00000334187.2"], "information_content": 100.0}
{"id": "MONDO:0005092", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "signet ring cell carcinoma", "equivalent_identifiers": ["MONDO:0005092", "DOID:3493", "EFO:0000698", "UMLS:C0206696", "MESH:D018279", "MEDDRA:10057266", "NCIT:C3774", "SNOMEDCT:87737001", "medgen:61663"], "information_content": 79.6}
{"id": "NCBIGene:386678", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP10-11", "equivalent_identifiers": ["NCBIGene:386678", "ENSEMBL:ENSG00000243489", "HGNC:20528", "UMLS:C1537511", "UniProtKB:P60412", "PR:P60412", "ENSEMBL:ENSP00000334197", "ENSEMBL:ENSP00000334197.8"], "information_content": 100.0}
{"id": "MONDO:0002937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nodular basal cell carcinoma", "equivalent_identifiers": ["MONDO:0002937", "DOID:4280", "UMLS:C0862887", "UMLS:C1304300", "UMLS:C1879347", "UMLS:C4083056", "MEDDRA:10029496", "MEDDRA:10073093", "NCIT:C5568", "NCIT:C5616", "NCIT:C62282", "SNOMEDCT:128636006", "SNOMEDCT:403910009", "SNOMEDCT:403911008", "SNOMEDCT:716274007", "medgen:908229"], "information_content": 87.2}
{"id": "UniProtKB:O95180-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent T-type calcium channel subunit alpha-1H isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95180-1", "PR:O95180-1", "ENSEMBL:ENSP00000334198", "ENSEMBL:ENSP00000334198.7", "ENSEMBL:ENSP00000518775", "ENSEMBL:ENSP00000518775.1"], "information_content": 100.0}
{"id": "NCBIGene:496", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP4B", "equivalent_identifiers": ["NCBIGene:496", "ENSEMBL:ENSG00000186009", "HGNC:820", "OMIM:137217", "UMLS:C1412646", "UniProtKB:P51164", "PR:P51164", "ENSEMBL:ENSP00000334216", "ENSEMBL:ENSP00000334216.3"], "information_content": 100.0}
{"id": "UniProtKB:Q495M3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proton-coupled amino acid transporter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q495M3-1", "PR:Q495M3-1", "ENSEMBL:ENSP00000334223", "ENSEMBL:ENSP00000334223.4"], "information_content": 100.0}
{"id": "MONDO:0001246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "typhus", "equivalent_identifiers": ["MONDO:0001246", "DOID:11256", "orphanet:102023", "EFO:0009117", "UMLS:C0041471", "UMLS:C0343758", "MEDDRA:10045276", "MEDDRA:10045277", "MEDDRA:10045278", "MEDDRA:10061393", "SNOMEDCT:240613006", "medgen:11976", "icd11.foundation:292650041", "ICD10:A75.0", "ICD10:A75.2", "ICD10:A75.9", "ICD9:080", "ICD9:081.0", "ICD9:081.9"], "information_content": 88.2}
{"id": "MONDO:0001118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Queensland tick typhus", "equivalent_identifiers": ["MONDO:0001118", "DOID:10784", "UMLS:C2979888", "MEDDRA:10037731", "MEDDRA:10039127", "SNOMEDCT:68981009", "medgen:755996"], "information_content": 100.0}
{"id": "MONDO:0019359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rocky mountain spotted fever", "equivalent_identifiers": ["MONDO:0019359", "DOID:0050052", "orphanet:83311", "UMLS:C0035793", "UMLS:C0343759", "MESH:D012373", "MEDDRA:10039130", "MEDDRA:10039207", "NCIT:C128410", "SNOMEDCT:186772009", "medgen:48500", "icd11.foundation:215936800"], "information_content": 100.0}
{"id": "NCBIGene:199974", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP4Z1", "equivalent_identifiers": ["NCBIGene:199974", "ENSEMBL:ENSG00000186160", "HGNC:20583", "OMIM:618953", "UMLS:C1539214", "UniProtKB:Q86W10", "PR:Q86W10", "ENSEMBL:ENSP00000334246", "ENSEMBL:ENSP00000334246.3", "UMLS:C1451408", "MESH:C485207"], "information_content": 100.0}
{"id": "UniProtKB:Q9BY64-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 2B28 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY64-1", "PR:Q9BY64-1", "ENSEMBL:ENSP00000334276", "ENSEMBL:ENSP00000334276.5"], "information_content": 100.0}
{"id": "NCBIGene:337978", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP21-2", "equivalent_identifiers": ["NCBIGene:337978", "ENSEMBL:ENSG00000187026", "HGNC:18946", "UMLS:C1425914", "UniProtKB:Q3LI59", "PR:Q3LI59", "ENSEMBL:ENSP00000334287", "ENSEMBL:ENSP00000334287.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96MD7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C9orf85 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96MD7-1", "PR:Q96MD7-1", "ENSEMBL:ENSP00000334289", "ENSEMBL:ENSP00000334289.2"], "information_content": 100.0}
{"id": "MONDO:0011351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 21", "equivalent_identifiers": ["MONDO:0011351", "DOID:0110479", "OMIM:603629", "UMLS:C1863655", "MESH:C566353", "medgen:355030"], "information_content": 100.0}
{"id": "UniProtKB:Q9UL49-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor-like 5 protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UL49-3", "PR:Q9UL49-3", "ENSEMBL:ENSP00000334294", "ENSEMBL:ENSP00000334294.3"], "information_content": 100.0}
{"id": "NCBIGene:10881", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTL7A", "equivalent_identifiers": ["NCBIGene:10881", "ENSEMBL:ENSG00000187003", "HGNC:161", "OMIM:604303", "UMLS:C1412163", "UniProtKB:A0A140VK03", "UMLS:C0769563", "MESH:C120133", "UniProtKB:Q9Y615", "PR:Q9Y615", "ENSEMBL:ENSP00000334300", "ENSEMBL:ENSP00000334300.3"], "information_content": 100.0}
{"id": "MONDO:0032768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 76", "equivalent_identifiers": ["MONDO:0032768", "DOID:0112212", "OMIM:618468", "UMLS:C5193113", "NCIT:C179296", "medgen:1673011"], "information_content": 100.0}
{"id": "MONDO:0014296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Warburg micro syndrome 4", "equivalent_identifiers": ["MONDO:0014296", "DOID:0110719", "OMIM:615663", "UMLS:C3810265", "medgen:816595"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMZ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nesprin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMZ3-1", "PR:Q6ZMZ3-1", "ENSEMBL:ENSP00000334308", "ENSEMBL:ENSP00000334308.4", "ENSEMBL:ENSP00000507501", "ENSEMBL:ENSP00000507501.1"], "information_content": 100.0}
{"id": "UniProtKB:O00423-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "echinoderm microtubule-associated protein-like 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O00423-3", "PR:O00423-3", "ENSEMBL:ENSP00000334314", "ENSEMBL:ENSP00000334314.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6V0-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein piccolo isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6V0-5", "PR:Q9Y6V0-5", "ENSEMBL:ENSP00000334319", "ENSEMBL:ENSP00000334319.8"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "netrin receptor UNC5B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZJ1-1", "PR:Q8IZJ1-1", "ENSEMBL:ENSP00000334329", "ENSEMBL:ENSP00000334329.6"], "information_content": 100.0}
{"id": "MONDO:0011236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinism due to glucokinase deficiency", "equivalent_identifiers": ["MONDO:0011236", "DOID:0070216", "OMIM:602485", "orphanet:79299", "UMLS:C1865290", "UMLS:C4274019", "MESH:C538374", "SNOMEDCT:717182006", "medgen:355435"], "information_content": 100.0}
{"id": "UniProtKB:Q8NG35", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D105A_HUMAN Beta-defensin 105 (sprot)", "equivalent_identifiers": ["UniProtKB:Q8NG35", "PR:Q8NG35", "ENSEMBL:ENSP00000334330", "ENSEMBL:ENSP00000334330.6", "ENSEMBL:ENSP00000335281", "ENSEMBL:ENSP00000335281.6", "ENSEMBL:ENSP00000482176", "ENSEMBL:ENSP00000482176.1", "ENSEMBL:ENSP00000495658", "ENSEMBL:ENSP00000495658.1", "ENSEMBL:ENSP00000496561", "ENSEMBL:ENSP00000496561.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N104", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D106A_HUMAN Beta-defensin 106 (sprot)", "equivalent_identifiers": ["UniProtKB:Q8N104", "PR:Q8N104", "ENSEMBL:ENSP00000334364", "ENSEMBL:ENSP00000334364.2", "ENSEMBL:ENSP00000335307", "ENSEMBL:ENSP00000335307.2", "ENSEMBL:ENSP00000477883", "ENSEMBL:ENSP00000477883.1", "ENSEMBL:ENSP00000496662", "ENSEMBL:ENSP00000496662.1", "ENSEMBL:ENSP00000497538", "ENSEMBL:ENSP00000497538.1"], "information_content": 100.0}
{"id": "NCBIGene:3840", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KPNA4", "equivalent_identifiers": ["NCBIGene:3840", "ENSEMBL:ENSG00000186432", "HGNC:6397", "OMIM:602970", "UMLS:C1416702", "UniProtKB:O00629", "PR:O00629", "ENSEMBL:ENSP00000334373", "ENSEMBL:ENSP00000334373.4", "UMLS:C1430809", "MESH:C106259"], "information_content": 88.2}
{"id": "UniProtKB:Q9H156-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SLIT and NTRK-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H156-1", "PR:Q9H156-1", "ENSEMBL:ENSP00000334374", "ENSEMBL:ENSP00000334374.5", "ENSEMBL:ENSP00000359521", "ENSEMBL:ENSP00000359521.1"], "information_content": 100.0}
{"id": "UniProtKB:Q4AC94-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C2 domain-containing protein 3 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q4AC94-5", "PR:Q4AC94-5", "ENSEMBL:ENSP00000334379", "ENSEMBL:ENSP00000334379.7"], "information_content": 100.0}
{"id": "UniProtKB:Q86YM7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homer protein homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YM7-1", "PR:Q86YM7-1", "ENSEMBL:ENSP00000334382", "ENSEMBL:ENSP00000334382.6"], "information_content": 100.0}
{"id": "NCBIGene:729528", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF14", "equivalent_identifiers": ["NCBIGene:729528", "ENSEMBL:ENSG00000204481", "HGNC:13576", "UMLS:C1826686", "UniProtKB:Q5SWL7", "PR:Q5SWL7", "ENSEMBL:ENSP00000334410", "ENSEMBL:ENSP00000334410.5"], "information_content": 95.4}
{"id": "NCBIGene:440585", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP144", "equivalent_identifiers": ["NCBIGene:440585", "ENSEMBL:ENSG00000186973", "HGNC:34347", "OMIM:621114", "UMLS:C2681516", "UniProtKB:A6NL82", "PR:A6NL82", "ENSEMBL:ENSP00000334415", "ENSEMBL:ENSP00000334415.3", "UMLS:C5197087", "MESH:C000630906"], "information_content": 100.0}
{"id": "NCBIGene:283093", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4C12", "equivalent_identifiers": ["NCBIGene:283093", "ENSEMBL:ENSG00000221954", "HGNC:15168", "UMLS:C1423262", "UniProtKB:Q96R67", "PR:Q96R67", "ENSEMBL:ENSP00000334418", "ENSEMBL:ENSP00000334418.4", "ENSEMBL:ENSP00000491819", "ENSEMBL:ENSP00000491819.1"], "information_content": 100.0}
{"id": "MONDO:0016722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pineoblastoma", "equivalent_identifiers": ["MONDO:0016722", "DOID:1664", "orphanet:251909", "EFO:1000475", "UMLS:C0205898", "MEDDRA:10035056", "MEDDRA:10035058", "MEDDRA:10050487", "NCIT:C9344", "SNOMEDCT:31671006", "SNOMEDCT:767448007", "medgen:104745", "HP:0030408"], "information_content": 80.6}
{"id": "MONDO:0000640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central nervous system primitive neuroectodermal neoplasm", "equivalent_identifiers": ["MONDO:0000640", "DOID:0060103", "UMLS:C3887678", "NCIT:C5398", "medgen:854517", "HP:0030070"], "information_content": 80.9}
{"id": "NCBIGene:54331", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNG2", "equivalent_identifiers": ["NCBIGene:54331", "ENSEMBL:ENSG00000186469", "HGNC:4404", "OMIM:606981", "UMLS:C1415155", "UniProtKB:P59768", "PR:P59768", "ENSEMBL:ENSP00000334448", "ENSEMBL:ENSP00000334448.4", "ENSEMBL:ENSP00000451102", "ENSEMBL:ENSP00000451102.1", "ENSEMBL:ENSP00000451231", "ENSEMBL:ENSP00000451231.1", "ENSEMBL:ENSP00000451576", "ENSEMBL:ENSP00000451576.1", "ENSEMBL:ENSP00000452014", "ENSEMBL:ENSP00000452014.1", "ENSEMBL:ENSP00000484021", "ENSEMBL:ENSP00000484021.1", "UMLS:C0915426", "UMLS:C3814431", "MESH:C410342"], "information_content": 100.0}
{"id": "NCBIGene:219436", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5D14", "equivalent_identifiers": ["NCBIGene:219436", "ENSEMBL:ENSG00000186113", "HGNC:15281", "UMLS:C1423366", "UniProtKB:Q8NGL3", "PR:Q8NGL3", "ENSEMBL:ENSP00000334456", "ENSEMBL:ENSP00000334456.1"], "information_content": 100.0}
{"id": "MONDO:0008050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MYH7-related skeletal myopathy", "equivalent_identifiers": ["MONDO:0008050", "DOID:0070197", "OMIM:160500", "orphanet:59135", "UMLS:C4552004", "SNOMEDCT:764859001", "medgen:1647391"], "information_content": 100.0}
{"id": "MONDO:0018889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyaline body myopathy", "equivalent_identifiers": ["MONDO:0018889", "DOID:0111267", "orphanet:53698", "icd11.foundation:352828432"], "information_content": 100.0}
{"id": "UniProtKB:Q86Y78-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ly6/PLAUR domain-containing protein 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86Y78-1", "PR:Q86Y78-1", "ENSEMBL:ENSP00000334463", "ENSEMBL:ENSP00000334463.4", "ENSEMBL:ENSP00000386413", "ENSEMBL:ENSP00000386413.1", "ENSEMBL:ENSP00000498455", "ENSEMBL:ENSP00000498455.1"], "information_content": 100.0}
{"id": "NCBIGene:2301", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXE3", "equivalent_identifiers": ["NCBIGene:2301", "ENSEMBL:ENSG00000186790", "HGNC:3808", "OMIM:601094", "UMLS:C1414676", "UniProtKB:A0A0A1EII5", "UMLS:C1449346", "MESH:C404285", "UniProtKB:Q13461", "PR:Q13461", "ENSEMBL:ENSP00000334472", "ENSEMBL:ENSP00000334472.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULJ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger MIZ domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULJ6-1", "PR:Q9ULJ6-1", "ENSEMBL:ENSP00000334474", "ENSEMBL:ENSP00000334474.5"], "information_content": 100.0}
{"id": "UniProtKB:Q5HYR2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "doublesex- and mab-3-related transcription factor C1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5HYR2-1", "PR:Q5HYR2-1", "ENSEMBL:ENSP00000334501", "ENSEMBL:ENSP00000334501.5", "ENSEMBL:ENSP00000362632", "ENSEMBL:ENSP00000362632.3", "ENSEMBL:ENSP00000471224", "ENSEMBL:ENSP00000471224.1", "ENSEMBL:ENSP00000484718", "ENSEMBL:ENSP00000484718.2"], "information_content": 100.0}
{"id": "NCBIGene:6887", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAL2", "equivalent_identifiers": ["NCBIGene:6887", "ENSEMBL:ENSG00000186051", "HGNC:11557", "OMIM:186855", "UMLS:C1336574", "UniProtKB:Q16559", "PR:Q16559", "ENSEMBL:ENSP00000334547", "ENSEMBL:ENSP00000334547.3", "UMLS:C1447263", "MESH:C086540"], "information_content": 92.8}
{"id": "MONDO:0009776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 1", "equivalent_identifiers": ["MONDO:0009776", "DOID:0070188", "OMIM:258150", "UMLS:C0403810", "MESH:C562902", "SNOMEDCT:236803007", "medgen:140793"], "information_content": 100.0}
{"id": "NCBIGene:10623", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR3C", "equivalent_identifiers": ["NCBIGene:10623", "ENSEMBL:ENSG00000186141", "HGNC:30076", "OMIM:617454", "UMLS:C1538697", "UniProtKB:Q9BUI4", "PR:Q9BUI4", "ENSEMBL:ENSP00000334564", "ENSEMBL:ENSP00000334564.3", "ENSEMBL:ENSP00000513913", "ENSEMBL:ENSP00000513913.1", "UMLS:C4309293", "MESH:C000610570"], "information_content": 95.4}
{"id": "NCBIGene:120227", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP2R1", "equivalent_identifiers": ["NCBIGene:120227", "ENSEMBL:ENSG00000186104", "HGNC:20580", "OMIM:608713", "UMLS:C1427014", "UniProtKB:E9PJT9", "ENSEMBL:ENSP00000435484", "ENSEMBL:ENSP00000435484.1", "UniProtKB:Q6VVX0", "PR:Q6VVX0", "ENSEMBL:ENSP00000334592", "ENSEMBL:ENSP00000334592.5", "UMLS:C1690849", "MESH:C506833"], "information_content": 92.8}
{"id": "UniProtKB:Q6ZMR5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protease serine 11A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMR5-1", "PR:Q6ZMR5-1", "ENSEMBL:ENSP00000334611", "ENSEMBL:ENSP00000334611.7"], "information_content": 100.0}
{"id": "NCBIGene:118987", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDZD8", "equivalent_identifiers": ["NCBIGene:118987", "ENSEMBL:ENSG00000165650", "HGNC:26974", "OMIM:614235", "UMLS:C1428638", "UniProtKB:Q8NEN9", "PR:Q8NEN9", "ENSEMBL:ENSP00000334642", "ENSEMBL:ENSP00000334642.5", "UMLS:C2974355", "MESH:C552110"], "information_content": 95.4}
{"id": "NCBIGene:353144", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCE3C", "equivalent_identifiers": ["NCBIGene:353144", "ENSEMBL:ENSG00000244057", "HGNC:16612", "OMIM:612615", "UMLS:C1537542", "UniProtKB:Q5T5A8", "PR:Q5T5A8", "ENSEMBL:ENSP00000334644", "ENSEMBL:ENSP00000334644.3", "ENSEMBL:ENSP00000507204", "ENSEMBL:ENSP00000507204.1", "UMLS:C2000558", "MESH:C524768"], "information_content": 100.0}
{"id": "NCBIGene:338567", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNK18", "equivalent_identifiers": ["NCBIGene:338567", "ENSEMBL:ENSG00000186795", "HGNC:19439", "OMIM:613655", "UMLS:C1537435", "UniProtKB:Q7Z418", "PR:Q7Z418", "ENSEMBL:ENSP00000334650", "ENSEMBL:ENSP00000334650.1", "UMLS:C1311011", "UMLS:C2986623", "MESH:C476574"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z4K8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 46 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4K8-1", "PR:Q7Z4K8-1", "ENSEMBL:ENSP00000334657", "ENSEMBL:ENSP00000334657.4"], "information_content": 100.0}
{"id": "UniProtKB:O14926-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fascin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O14926-2", "PR:O14926-2", "ENSEMBL:ENSP00000334665", "ENSEMBL:ENSP00000334665.7"], "information_content": 100.0}
{"id": "MONDO:0003004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular degeneration", "equivalent_identifiers": ["MONDO:0003004", "DOID:4448", "EFO:0009606", "UMLS:C0024437", "MESH:D008268", "MEDDRA:10012148", "MEDDRA:10025400", "MEDDRA:10025409", "MEDDRA:10025414", "MEDDRA:10038876", "NCIT:C123330", "SNOMEDCT:422338006", "medgen:7434", "HP:0000608"], "information_content": 74.2}
{"id": "NCBIGene:54821", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERCC6L", "equivalent_identifiers": ["NCBIGene:54821", "ENSEMBL:ENSG00000186871", "HGNC:20794", "OMIM:300687", "UMLS:C2239388", "UniProtKB:B5MDQ0", "ENSEMBL:ENSP00000362761", "ENSEMBL:ENSP00000362761.1", "UniProtKB:Q2NKX8", "PR:Q2NKX8", "ENSEMBL:ENSP00000334675", "ENSEMBL:ENSP00000334675.3", "UMLS:C1872570", "MESH:C516980"], "information_content": 95.4}
{"id": "UniProtKB:Q8IZN7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D107A_HUMAN Beta-defensin 107 (sprot)", "equivalent_identifiers": ["UniProtKB:Q8IZN7", "PR:Q8IZN7", "ENSEMBL:ENSP00000334681", "ENSEMBL:ENSP00000334681.2", "ENSEMBL:ENSP00000347810", "ENSEMBL:ENSP00000347810.2", "ENSEMBL:ENSP00000478422", "ENSEMBL:ENSP00000478422.1", "ENSEMBL:ENSP00000493774", "ENSEMBL:ENSP00000493774.1", "ENSEMBL:ENSP00000495534", "ENSEMBL:ENSP00000495534.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3ZCX4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 568 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3ZCX4-1", "PR:Q3ZCX4-1", "ENSEMBL:ENSP00000334685", "ENSEMBL:ENSP00000334685.7", "ENSEMBL:ENSP00000516249", "ENSEMBL:ENSP00000516249.1"], "information_content": 100.0}
{"id": "NCBIGene:338657", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CENATAC", "equivalent_identifiers": ["NCBIGene:338657", "ENSEMBL:ENSG00000186166", "HGNC:30460", "OMIM:620142", "UMLS:C1824609", "UniProtKB:Q86UT8", "PR:Q86UT8", "ENSEMBL:ENSP00000334767", "ENSEMBL:ENSP00000334767.1", "ENSEMBL:ENSP00000487197", "ENSEMBL:ENSP00000487197.1"], "information_content": 95.4}
{"id": "UniProtKB:Q96BS2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcineurin B homologous protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BS2-1", "PR:Q96BS2-1", "ENSEMBL:ENSP00000334785", "ENSEMBL:ENSP00000334785.7"], "information_content": 100.0}
{"id": "NCBIGene:353288", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT26", "equivalent_identifiers": ["NCBIGene:353288", "ENSEMBL:ENSG00000186393", "HGNC:30840", "OMIM:616675", "UMLS:C1825744", "UniProtKB:Q7Z3Y9", "PR:Q7Z3Y9", "ENSEMBL:ENSP00000334798", "ENSEMBL:ENSP00000334798.4"], "information_content": 100.0}
{"id": "NCBIGene:341567", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H1-7", "equivalent_identifiers": ["NCBIGene:341567", "ENSEMBL:ENSG00000187166", "HGNC:24893", "OMIM:618565", "UMLS:C5203088", "UniProtKB:A0A140VK96", "UMLS:C1723711", "MESH:C512208", "UniProtKB:Q75WM6", "PR:Q75WM6", "ENSEMBL:ENSP00000334805", "ENSEMBL:ENSP00000334805.1", "UMLS:C5203087"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5T5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5T5-1", "PR:Q9Y5T5-1", "ENSEMBL:ENSP00000334808", "ENSEMBL:ENSP00000334808.4", "ENSEMBL:ENSP00000382858", "ENSEMBL:ENSP00000382858.2", "ENSEMBL:ENSP00000517013", "ENSEMBL:ENSP00000517013.1", "ENSEMBL:ENSP00000517014", "ENSEMBL:ENSP00000517014.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2V3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinal homeobox protein Rx isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2V3-1", "PR:Q9Y2V3-1", "ENSEMBL:ENSP00000334813", "ENSEMBL:ENSP00000334813.3"], "information_content": 100.0}
{"id": "MONDO:0001579", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal staphyloma", "equivalent_identifiers": ["MONDO:0001579", "DOID:12753", "UMLS:C0152440", "MEDDRA:10011048", "SNOMEDCT:52476003", "medgen:509034", "icd11.foundation:212928655", "ICD10:H18.72", "ICD9:371.73"], "information_content": 100.0}
{"id": "UniProtKB:Q9P0N5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 216 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0N5-3", "PR:Q9P0N5-3", "ENSEMBL:ENSP00000334844", "ENSEMBL:ENSP00000334844.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8NE00-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 104 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NE00-1", "PR:Q8NE00-1", "ENSEMBL:ENSP00000334849", "ENSEMBL:ENSP00000334849.5", "ENSEMBL:ENSP00000461922", "ENSEMBL:ENSP00000461922.1"], "information_content": 100.0}
{"id": "MONDO:0002338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extratemporal epilepsy", "equivalent_identifiers": ["MONDO:0002338", "DOID:2544", "UMLS:C0270849", "NCIT:C7760", "SNOMEDCT:111498005", "medgen:78737"], "information_content": 100.0}
{"id": "NCBIGene:401190", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RGS7BP", "equivalent_identifiers": ["NCBIGene:401190", "ENSEMBL:ENSG00000186479", "HGNC:23271", "OMIM:610890", "UMLS:C1826820", "UniProtKB:B4DKB7", "UMLS:C2717319", "MESH:C542323", "UniProtKB:Q6MZT1", "PR:Q6MZT1", "ENSEMBL:ENSP00000334851", "ENSEMBL:ENSP00000334851.2"], "information_content": 95.4}
{"id": "UniProtKB:Q8NEP9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 555 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEP9-1", "PR:Q8NEP9-1", "ENSEMBL:ENSP00000334853", "ENSEMBL:ENSP00000334853.3"], "information_content": 100.0}
{"id": "UniProtKB:Q401N2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ligand-gated cation channel ZACN isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q401N2-1", "PR:Q401N2-1", "ENSEMBL:ENSP00000334854", "ENSEMBL:ENSP00000334854.5"], "information_content": 100.0}
{"id": "NCBIGene:353131", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCE1A", "equivalent_identifiers": ["NCBIGene:353131", "ENSEMBL:ENSG00000186844", "HGNC:29459", "OMIM:612603", "UMLS:C1537530", "UniProtKB:Q5T7P2", "PR:Q5T7P2", "ENSEMBL:ENSP00000334869", "ENSEMBL:ENSP00000334869.2"], "information_content": 100.0}
{"id": "NCBIGene:4494", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT1F", "equivalent_identifiers": ["NCBIGene:4494", "ENSEMBL:ENSG00000198417", "HGNC:7398", "OMIM:156352", "UMLS:C1417394", "UniProtKB:H3BRY8", "ENSEMBL:ENSP00000456462", "ENSEMBL:ENSP00000456462.1", "UMLS:C1570792", "MESH:C501902", "UniProtKB:P04733", "PR:P04733", "ENSEMBL:ENSP00000334872", "ENSEMBL:ENSP00000334872.6"], "information_content": 100.0}
{"id": "NCBIGene:6011", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRK1", "equivalent_identifiers": ["NCBIGene:6011", "ENSEMBL:ENSG00000185974", "HGNC:10013", "OMIM:180381", "UMLS:C1335620", "UniProtKB:Q15835", "PR:Q15835", "ENSEMBL:ENSP00000334876", "ENSEMBL:ENSP00000334876.5", "ENSEMBL:ENSP00000499886", "ENSEMBL:ENSP00000499886.1", "UMLS:C1384522", "MESH:C496764"], "information_content": 100.0}
{"id": "NCBIGene:345079", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOWAHB", "equivalent_identifiers": ["NCBIGene:345079", "ENSEMBL:ENSG00000186212", "HGNC:32958", "UMLS:C3469861", "UniProtKB:A6NEL2", "PR:A6NEL2", "ENSEMBL:ENSP00000334879", "ENSEMBL:ENSP00000334879.2"], "information_content": 100.0}
{"id": "UniProtKB:O00408-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cGMP-dependent 3',5'-cyclic phosphodiesterase isoform hPDE2A3 (human)", "equivalent_identifiers": ["UniProtKB:O00408-1", "PR:O00408-1", "ENSEMBL:ENSP00000334910", "ENSEMBL:ENSP00000334910.5"], "information_content": 100.0}
{"id": "UniProtKB:P23467-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase beta isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P23467-3", "PR:P23467-3", "ENSEMBL:ENSP00000334928", "ENSEMBL:ENSP00000334928.6"], "information_content": 100.0}
{"id": "MONDO:0001661", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "background diabetic retinopathy", "equivalent_identifiers": ["MONDO:0001661", "DOID:13208", "EFO:0009760", "UMLS:C0004606", "MEDDRA:10003995", "MEDDRA:10054109", "NCIT:C35668", "SNOMEDCT:390834004", "medgen:2531", "ICD9:362.03"], "information_content": 95.4}
{"id": "UniProtKB:Q9BT76-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uroplakin-3b isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BT76-3", "PR:Q9BT76-3", "ENSEMBL:ENSP00000334938", "ENSEMBL:ENSP00000334938.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86UU5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gametogenetin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UU5-1", "PR:Q86UU5-1", "ENSEMBL:ENSP00000334940", "ENSEMBL:ENSP00000334940.5"], "information_content": 100.0}
{"id": "MONDO:0009291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease III", "equivalent_identifiers": ["MONDO:0009291", "DOID:2748", "OMIM:232400", "orphanet:366", "UMLS:C0017922", "UMLS:C1968739", "UMLS:C1968740", "UMLS:C1968741", "UMLS:C1968742", "MESH:C566889", "MESH:C566890", "MESH:C566891", "MESH:C566892", "MESH:D006010", "MEDDRA:10011945", "MEDDRA:10016983", "MEDDRA:10053250", "NCIT:C84736", "SNOMEDCT:66937008", "medgen:6641", "ICD10:E74.03"], "information_content": 100.0}
{"id": "UniProtKB:Q92729-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase U isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92729-1", "PR:Q92729-1", "ENSEMBL:ENSP00000334941", "ENSEMBL:ENSP00000334941.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWK6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G protein-coupled receptor A3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWK6-1", "PR:Q8IWK6-1", "ENSEMBL:ENSP00000334952", "ENSEMBL:ENSP00000334952.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6F5E8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "capping protein, Arp2/3 and myosin-I linker protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6F5E8-1", "PR:Q6F5E8-1", "ENSEMBL:ENSP00000334958", "ENSEMBL:ENSP00000334958.5"], "information_content": 100.0}
{"id": "MONDO:0010421", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bruton-type agammaglobulinemia", "equivalent_identifiers": ["MONDO:0010421", "DOID:14179", "OMIM:300755", "orphanet:47", "UMLS:C0221026", "UMLS:C0241932", "MESH:C537409", "MESH:C562478", "MEDDRA:10049485", "MEDDRA:10060360", "MEDDRA:10086890", "MEDDRA:10086891", "NCIT:C3822", "SNOMEDCT:65880007", "medgen:65123"], "information_content": 100.0}
{"id": "NCBIGene:881", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCIN", "equivalent_identifiers": ["NCBIGene:881", "ENSEMBL:ENSG00000185972", "HGNC:1568", "OMIM:603960", "UMLS:C1413166", "UniProtKB:Q13939", "PR:Q13939", "ENSEMBL:ENSP00000334996", "ENSEMBL:ENSP00000334996.2", "UMLS:C1608747", "MESH:C503855", "UniProtKB:Q8WWB2", "UniProtKB:Q8WX35"], "information_content": 95.4}
{"id": "MONDO:0002309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papillary conjunctivitis", "equivalent_identifiers": ["MONDO:0002309", "DOID:2458", "UMLS:C0854165", "MEDDRA:10010753", "NCIT:C35616", "SNOMEDCT:416878008", "medgen:167698", "icd11.foundation:392841027"], "information_content": 95.4}
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{"id": "NCBIGene:4490", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT1B", "equivalent_identifiers": ["NCBIGene:4490", "ENSEMBL:ENSG00000169688", "HGNC:7394", "OMIM:156349", "UMLS:C1417390", "UniProtKB:P07438", "PR:P07438", "ENSEMBL:ENSP00000334998", "ENSEMBL:ENSP00000334998.2"], "information_content": 100.0}
{"id": "NCBIGene:353142", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCE3A", "equivalent_identifiers": ["NCBIGene:353142", "ENSEMBL:ENSG00000185962", "HGNC:29461", "OMIM:612613", "UMLS:C1537540", "UniProtKB:Q5TA76", "PR:Q5TA76", "ENSEMBL:ENSP00000335006", "ENSEMBL:ENSP00000335006.1", "UMLS:C4506170", "MESH:C000616471"], "information_content": 100.0}
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{"id": "NCBIGene:256394", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINA11", "equivalent_identifiers": ["NCBIGene:256394", "ENSEMBL:ENSG00000186910", "HGNC:19193", "OMIM:619619", "UMLS:C1539753", "UniProtKB:Q86U17", "PR:Q86U17", "ENSEMBL:ENSP00000335024", "ENSEMBL:ENSP00000335024.3", "UMLS:C2713681", "MESH:C534948"], "information_content": 92.8}
{"id": "NCBIGene:219438", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5D18", "equivalent_identifiers": ["NCBIGene:219438", "ENSEMBL:ENSG00000186119", "HGNC:15285", "UMLS:C1423370", "UniProtKB:Q8NGL1", "PR:Q8NGL1", "ENSEMBL:ENSP00000335025", "ENSEMBL:ENSP00000335025.4"], "information_content": 100.0}
{"id": "UniProtKB:Q14644-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras GTPase-activating protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14644-1", "PR:Q14644-1", "ENSEMBL:ENSP00000335029", "ENSEMBL:ENSP00000335029.7", "ENSEMBL:ENSP00000486064", "ENSEMBL:ENSP00000486064.1"], "information_content": 100.0}
{"id": "NCBIGene:342865", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VSTM2B", "equivalent_identifiers": ["NCBIGene:342865", "ENSEMBL:ENSG00000187135", "HGNC:33595", "UMLS:C2240167", "UniProtKB:A6NLU5", "PR:A6NLU5", "ENSEMBL:ENSP00000335038", "ENSEMBL:ENSP00000335038.6"], "information_content": 100.0}
{"id": "UniProtKB:Q68CP9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AT-rich interactive domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68CP9-1", "PR:Q68CP9-1", "ENSEMBL:ENSP00000335044", "ENSEMBL:ENSP00000335044.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPY6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin-binding protein WASF3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPY6-1", "PR:Q9UPY6-1", "ENSEMBL:ENSP00000335055", "ENSEMBL:ENSP00000335055.5"], "information_content": 100.0}
{"id": "NCBIGene:84842", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HPDL", "equivalent_identifiers": ["NCBIGene:84842", "ENSEMBL:ENSG00000186603", "HGNC:28242", "OMIM:618994", "UMLS:C1825370", "UniProtKB:Q96IR7", "PR:Q96IR7", "ENSEMBL:ENSP00000335060", "ENSEMBL:ENSP00000335060.3", "UMLS:C5772022", "MESH:C000726273"], "information_content": 92.8}
{"id": "MONDO:0011829", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coenzyme Q10 deficiency, primary, 1", "equivalent_identifiers": ["MONDO:0011829", "DOID:0070238", "OMIM:607426", "UMLS:C3551954", "medgen:764868"], "information_content": 100.0}
{"id": "MONDO:0033615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coenzyme q10 deficiency, primary, 9", "equivalent_identifiers": ["MONDO:0033615", "DOID:0112138", "OMIM:619028", "UMLS:C5436638", "medgen:1740444"], "information_content": 100.0}
{"id": "MONDO:0013838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coenzyme Q10 deficiency, primary, 3", "equivalent_identifiers": ["MONDO:0013838", "DOID:0070240", "OMIM:614652", "UMLS:C3553358", "medgen:766272"], "information_content": 100.0}
{"id": "MONDO:0013840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome", "equivalent_identifiers": ["MONDO:0013840", "DOID:0070242", "OMIM:614654", "orphanet:319678", "UMLS:C3553374", "medgen:766288"], "information_content": 100.0}
{"id": "MONDO:0014754", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary coenzyme Q10 deficiency 8", "equivalent_identifiers": ["MONDO:0014754", "DOID:0070245", "OMIM:616733", "UMLS:C4225226", "medgen:908648"], "information_content": 100.0}
{"id": "MONDO:0013836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial steroid-resistant nephrotic syndrome with sensorineural deafness", "equivalent_identifiers": ["MONDO:0013836", "DOID:0070243", "OMIM:614650", "orphanet:280406", "UMLS:C3553349", "medgen:766263"], "information_content": 100.0}
{"id": "MONDO:0013837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-encephaloneuropathy-obesity-valvulopathy syndrome", "equivalent_identifiers": ["MONDO:0013837", "DOID:0070239", "OMIM:614651", "orphanet:254898", "UMLS:C3553354", "medgen:766268"], "information_content": 100.0}
{"id": "NCBIGene:5133", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDCD1", "equivalent_identifiers": ["NCBIGene:5133", "ENSEMBL:ENSG00000188389", "HGNC:8760", "OMIM:600244", "UMLS:C1418401", "UniProtKB:A0A0M3M0G7", "UniProtKB:Q15116", "PR:Q15116", "ENSEMBL:ENSP00000335062", "ENSEMBL:ENSP00000335062.5", "ENSEMBL:ENSP00000480684", "ENSEMBL:ENSP00000480684.1", "UMLS:C0135710", "MESH:C105992"], "information_content": 86.3}
{"id": "UniProtKB:Q9UBU3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "appetite-regulating hormone isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBU3-1", "PR:Q9UBU3-1", "ENSEMBL:ENSP00000335074", "ENSEMBL:ENSP00000335074.8", "ENSEMBL:ENSP00000391406", "ENSEMBL:ENSP00000391406.1", "ENSEMBL:ENSP00000414819", "ENSEMBL:ENSP00000414819.1"], "information_content": 88.2}
{"id": "UniProtKB:Q8WWZ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ectodysplasin-A receptor-associated adapter protein isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q8WWZ3-1", "PR:Q8WWZ3-1", "ENSEMBL:ENSP00000335076", "ENSEMBL:ENSP00000335076.4"], "information_content": 100.0}
{"id": "MONDO:0014578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 17", "equivalent_identifiers": ["MONDO:0014578", "DOID:0110674", "OMIM:616304", "UMLS:C4225377", "medgen:895078"], "information_content": 100.0}
{"id": "NCBIGene:157769", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM91A1", "equivalent_identifiers": ["NCBIGene:157769", "ENSEMBL:ENSG00000176853", "HGNC:26306", "UMLS:C1825206", "UniProtKB:B4DUD8", "UniProtKB:E7ER68", "ENSEMBL:ENSP00000429491", "ENSEMBL:ENSP00000429491.1", "UniProtKB:Q658Y4", "PR:Q658Y4", "ENSEMBL:ENSP00000335082", "ENSEMBL:ENSP00000335082.7"], "information_content": 95.4}
{"id": "UniProtKB:Q8ND25-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase ZNRF1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8ND25-1", "PR:Q8ND25-1", "ENSEMBL:ENSP00000335091", "ENSEMBL:ENSP00000335091.4", "ENSEMBL:ENSP00000455601", "ENSEMBL:ENSP00000455601.1"], "information_content": 100.0}
{"id": "NCBIGene:200728", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM17", "equivalent_identifiers": ["NCBIGene:200728", "ENSEMBL:ENSG00000186889", "HGNC:26623", "OMIM:614950", "UMLS:C1428612", "UniProtKB:Q86X19", "PR:Q86X19", "ENSEMBL:ENSP00000335094", "ENSEMBL:ENSP00000335094.5"], "information_content": 90.9}
{"id": "NCBIGene:353322", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD37", "equivalent_identifiers": ["NCBIGene:353322", "ENSEMBL:ENSG00000186352", "HGNC:29593", "OMIM:619021", "UMLS:C1538295", "UniProtKB:B4E066", "UMLS:C5828642", "MESH:C000726796", "UniProtKB:Q7Z713", "PR:Q7Z713", "ENSEMBL:ENSP00000335147", "ENSEMBL:ENSP00000335147.4"], "information_content": 92.8}
{"id": "MONDO:0001356", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "iron deficiency anemia", "equivalent_identifiers": ["MONDO:0001356", "DOID:11758", "UMLS:C0008272", "UMLS:C0029810", "UMLS:C0162316", "MESH:D018798", "MEDDRA:10002062", "MEDDRA:10002295", "MEDDRA:10022972", "MEDDRA:10022974", "MEDDRA:10022977", "MEDDRA:10053783", "MEDDRA:10053784", "MEDDRA:10055738", "MEDDRA:10064647", "MEDDRA:10064648", "MEDDRA:10071378", "MEDDRA:10071379", "NCIT:C84484", "SNOMEDCT:87522002", "medgen:57668", "ICD9:280.8", "HP:0001891"], "information_content": 100.0}
{"id": "UniProtKB:P07900-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heat shock protein HSP 90-alpha isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P07900-2", "PR:P07900-2", "ENSEMBL:ENSP00000335153", "ENSEMBL:ENSP00000335153.7"], "information_content": 100.0}
{"id": "NCBIGene:350383", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR142", "equivalent_identifiers": ["NCBIGene:350383", "ENSEMBL:ENSG00000257008", "HGNC:20088", "OMIM:609046", "UMLS:C1426674", "UniProtKB:J3QSD0", "ENSEMBL:ENSP00000464632", "ENSEMBL:ENSP00000464632.2", "UMLS:C1570380", "MESH:C501537", "UniProtKB:Q7Z601", "PR:Q7Z601", "ENSEMBL:ENSP00000335158", "ENSEMBL:ENSP00000335158.4"], "information_content": 100.0}
{"id": "MONDO:0013982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant", "equivalent_identifiers": ["MONDO:0013982", "DOID:0111653", "OMIM:614940", "UMLS:C3541517", "medgen:762105"], "information_content": 100.0}
{"id": "NCBIGene:347853", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBX10", "equivalent_identifiers": ["NCBIGene:347853", "ENSEMBL:ENSG00000167800", "HGNC:11593", "OMIM:604648", "UMLS:C1420604", "UniProtKB:O75333", "PR:O75333", "ENSEMBL:ENSP00000335191", "ENSEMBL:ENSP00000335191.3", "UMLS:C0675823", "MESH:C112683"], "information_content": 95.4}
{"id": "UniProtKB:Q96JC1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Vam6/Vps39-like protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JC1-1", "PR:Q96JC1-1", "ENSEMBL:ENSP00000335193", "ENSEMBL:ENSP00000335193.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMI3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gliomedin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMI3-1", "PR:Q6ZMI3-1", "ENSEMBL:ENSP00000335196", "ENSEMBL:ENSP00000335196.6"], "information_content": 100.0}
{"id": "NCBIGene:144233", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCDIN3D", "equivalent_identifiers": ["NCBIGene:144233", "ENSEMBL:ENSG00000186666", "HGNC:27050", "OMIM:619601", "UMLS:C2240206", "UniProtKB:Q7Z5W3", "PR:Q7Z5W3", "ENSEMBL:ENSP00000335201", "ENSEMBL:ENSP00000335201.4", "UMLS:C4549862", "MESH:C000622632"], "information_content": 100.0}
{"id": "UniProtKB:Q9UII2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATPase inhibitor, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UII2-1", "PR:Q9UII2-1", "ENSEMBL:ENSP00000335203", "ENSEMBL:ENSP00000335203.5", "ENSEMBL:ENSP00000494248", "ENSEMBL:ENSP00000494248.1"], "information_content": 100.0}
{"id": "NCBIGene:957", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ENTPD5", "equivalent_identifiers": ["NCBIGene:957", "ENSEMBL:ENSG00000187097", "HGNC:3367", "OMIM:603162", "UMLS:C1414416", "UniProtKB:G3V4I0", "ENSEMBL:ENSP00000451810", "ENSEMBL:ENSP00000451810.1", "UMLS:C1438916", "MESH:C117634", "UniProtKB:O75356", "PR:O75356", "ENSEMBL:ENSP00000335246", "ENSEMBL:ENSP00000335246.6"], "information_content": 89.4}
{"id": "NCBIGene:10809", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STARD10", "equivalent_identifiers": ["NCBIGene:10809", "ENSEMBL:ENSG00000214530", "HGNC:10666", "OMIM:617382", "UMLS:C1419899", "UniProtKB:Q9Y365", "PR:Q9Y365", "ENSEMBL:ENSP00000335247", "ENSEMBL:ENSP00000335247.6", "ENSEMBL:ENSP00000438792", "ENSEMBL:ENSP00000438792.1", "UMLS:C1454597", "MESH:C488090"], "information_content": 90.9}
{"id": "NCBIGene:253935", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANGPTL5", "equivalent_identifiers": ["NCBIGene:253935", "ENSEMBL:ENSG00000187151", "HGNC:19705", "OMIM:607666", "UMLS:C1426346", "UniProtKB:Q86XS5", "PR:Q86XS5", "ENSEMBL:ENSP00000335255", "ENSEMBL:ENSP00000335255.3", "UMLS:C1176098", "MESH:C473567"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVH6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trimethyllysine dioxygenase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVH6-1", "PR:Q9NVH6-1", "ENSEMBL:ENSP00000335261", "ENSEMBL:ENSP00000335261.3"], "information_content": 100.0}
{"id": "NCBIGene:338761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1QL4", "equivalent_identifiers": ["NCBIGene:338761", "ENSEMBL:ENSG00000186897", "HGNC:31416", "OMIM:615229", "UMLS:C1538978", "UniProtKB:A0A3B0INP7", "UniProtKB:Q86Z23", "PR:Q86Z23", "ENSEMBL:ENSP00000335285", "ENSEMBL:ENSP00000335285.3"], "information_content": 100.0}
{"id": "MONDO:0004881", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myositis fibrosa", "equivalent_identifiers": ["MONDO:0004881", "DOID:9788", "UMLS:C0158362", "MEDDRA:10022613", "NCIT:C26985", "SNOMEDCT:55925001", "medgen:57855", "ICD10:M60.1", "ICD9:728.81"], "information_content": 100.0}
{"id": "NCBIGene:123264", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC51B", "equivalent_identifiers": ["NCBIGene:123264", "ENSEMBL:ENSG00000186198", "HGNC:29956", "OMIM:612085", "UMLS:C2677530", "UniProtKB:Q86UW2", "PR:Q86UW2", "ENSEMBL:ENSP00000335292", "ENSEMBL:ENSP00000335292.2", "UMLS:C1311014", "MESH:C476577"], "information_content": 100.0}
{"id": "UniProtKB:P36957-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P36957-1", "PR:P36957-1", "ENSEMBL:ENSP00000335304", "ENSEMBL:ENSP00000335304.4"], "information_content": 100.0}
{"id": "MONDO:0013401", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 51", "equivalent_identifiers": ["MONDO:0013401", "DOID:0110803", "OMIM:613744", "UMLS:C3151056", "medgen:462406"], "information_content": 100.0}
{"id": "NCBIGene:55211", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPPA4", "equivalent_identifiers": ["NCBIGene:55211", "ENSEMBL:ENSG00000121570", "HGNC:19200", "OMIM:614125", "UMLS:C1426085", "UniProtKB:Q7L190", "PR:Q7L190", "ENSEMBL:ENSP00000335306", "ENSEMBL:ENSP00000335306.6", "UMLS:C4307663", "MESH:C000611651"], "information_content": 100.0}
{"id": "MONDO:0002599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "teratocarcinoma", "equivalent_identifiers": ["MONDO:0002599", "DOID:3305", "UMLS:C0206664", "MESH:D018243", "NCIT:C3756", "SNOMEDCT:67830002", "medgen:104913"], "information_content": 87.2}
{"id": "UniProtKB:Q86UU0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-cell CLL/lymphoma 9-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UU0-1", "PR:Q86UU0-1", "ENSEMBL:ENSP00000335320", "ENSEMBL:ENSP00000335320.3", "ENSEMBL:ENSP00000507778", "ENSEMBL:ENSP00000507778.1"], "information_content": 100.0}
{"id": "UniProtKB:O75533-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "splicing factor 3B subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75533-1", "PR:O75533-1", "ENSEMBL:ENSP00000335321", "ENSEMBL:ENSP00000335321.6"], "information_content": 100.0}
{"id": "UniProtKB:Q16667-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase inhibitor 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16667-1", "PR:Q16667-1", "ENSEMBL:ENSP00000335357", "ENSEMBL:ENSP00000335357.6"], "information_content": 100.0}
{"id": "NCBIGene:353143", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCE3B", "equivalent_identifiers": ["NCBIGene:353143", "ENSEMBL:ENSG00000187238", "HGNC:29462", "OMIM:612614", "UMLS:C1537541", "UniProtKB:Q5TA77", "PR:Q5TA77", "ENSEMBL:ENSP00000335358", "ENSEMBL:ENSP00000335358.1", "UMLS:C2934278", "MESH:C549748"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z392-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trafficking protein particle complex subunit 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z392-1", "PR:Q7Z392-1", "ENSEMBL:ENSP00000335371", "ENSEMBL:ENSP00000335371.6"], "information_content": 100.0}
{"id": "NCBIGene:245939", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFB128", "equivalent_identifiers": ["NCBIGene:245939", "ENSEMBL:ENSG00000185982", "HGNC:18106", "UMLS:C1425313", "UniProtKB:Q7Z7B8", "PR:Q7Z7B8", "ENSEMBL:ENSP00000335382", "ENSEMBL:ENSP00000335382.4", "UMLS:C4705695", "MESH:C000627152"], "information_content": 100.0}
{"id": "UniProtKB:Q6X784-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zona pellucida-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6X784-1", "PR:Q6X784-1", "ENSEMBL:ENSP00000335384", "ENSEMBL:ENSP00000335384.5"], "information_content": 100.0}
{"id": "NCBIGene:353324", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA12", "equivalent_identifiers": ["NCBIGene:353324", "ENSEMBL:ENSG00000186451", "HGNC:23221", "OMIM:609869", "UMLS:C1427999", "UniProtKB:A0A140VJV7", "UMLS:C2000656", "MESH:C523865", "UniProtKB:Q7Z6I5", "PR:Q7Z6I5", "ENSEMBL:ENSP00000335392", "ENSEMBL:ENSP00000335392.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86UN3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reticulon-4 receptor-like 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UN3-1", "PR:Q86UN3-1", "ENSEMBL:ENSP00000335397", "ENSEMBL:ENSP00000335397.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86XW9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin domain-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XW9-1", "PR:Q86XW9-1", "ENSEMBL:ENSP00000335444", "ENSEMBL:ENSP00000335444.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8NG31-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "outer kinetochore KNL1 complex subunit KNL1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NG31-1", "PR:Q8NG31-1", "ENSEMBL:ENSP00000335463", "ENSEMBL:ENSP00000335463.6"], "information_content": 100.0}
{"id": "UniProtKB:Q96A84-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EMI domain-containing protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96A84-3", "PR:Q96A84-3", "ENSEMBL:ENSP00000335481", "ENSEMBL:ENSP00000335481.6"], "information_content": 100.0}
{"id": "NCBIGene:2306", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXD2", "equivalent_identifiers": ["NCBIGene:2306", "ENSEMBL:ENSG00000186564", "HGNC:3803", "OMIM:602211", "UMLS:C1414671", "UniProtKB:O60548", "PR:O60548", "ENSEMBL:ENSP00000335493", "ENSEMBL:ENSP00000335493.6", "UMLS:C0668938", "MESH:C109562"], "information_content": 92.8}
{"id": "NCBIGene:337975", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP20-1", "equivalent_identifiers": ["NCBIGene:337975", "ENSEMBL:ENSG00000244624", "HGNC:18943", "UMLS:C1425911", "UniProtKB:Q3LI63", "PR:Q3LI63", "ENSEMBL:ENSP00000335503", "ENSEMBL:ENSP00000335503.2"], "information_content": 100.0}
{"id": "NCBIGene:128710", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLX4IP", "equivalent_identifiers": ["NCBIGene:128710", "ENSEMBL:ENSG00000149346", "HGNC:16225", "OMIM:615958", "UMLS:C1424101", "UniProtKB:Q5VYV7", "PR:Q5VYV7", "ENSEMBL:ENSP00000335557", "ENSEMBL:ENSP00000335557.5", "UMLS:C3885600", "MESH:C000592625"], "information_content": 100.0}
{"id": "MONDO:0008340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ptosis, hereditary congenital, 1", "equivalent_identifiers": ["MONDO:0008340", "DOID:0060261", "OMIM:178300", "orphanet:91411", "UMLS:C0266573", "UMLS:C1867438", "MESH:C566737", "MEDDRA:10010596", "MEDDRA:10010597", "MEDDRA:10015996", "NCIT:C27049", "SNOMEDCT:268163008", "SNOMEDCT:61989004", "medgen:357987", "ICD10:Q10.0", "ICD9:743.61", "HP:0007970"], "information_content": 95.4}
{"id": "UniProtKB:Q86VW2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 25 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q86VW2-3", "PR:Q86VW2-3", "ENSEMBL:ENSP00000335560", "ENSEMBL:ENSP00000335560.7"], "information_content": 100.0}
{"id": "NCBIGene:386681", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP10-8", "equivalent_identifiers": ["NCBIGene:386681", "ENSEMBL:ENSG00000187766", "HGNC:20525", "UMLS:C1537510", "UniProtKB:P60410", "PR:P60410", "ENSEMBL:ENSP00000335565", "ENSEMBL:ENSP00000335565.2"], "information_content": 100.0}
{"id": "NCBIGene:337977", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP21-1", "equivalent_identifiers": ["NCBIGene:337977", "ENSEMBL:ENSG00000187005", "HGNC:18945", "UMLS:C1425913", "UniProtKB:Q3LI58", "PR:Q3LI58", "ENSEMBL:ENSP00000335566", "ENSEMBL:ENSP00000335566.3"], "information_content": 100.0}
{"id": "MONDO:0010210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum group A", "equivalent_identifiers": ["MONDO:0010210", "DOID:0110843", "OMIM:278700", "UMLS:C0268135", "NCIT:C3965", "SNOMEDCT:43477006", "medgen:82775"], "information_content": 89.4}
{"id": "NCBIGene:337971", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP19-4", "equivalent_identifiers": ["NCBIGene:337971", "ENSEMBL:ENSG00000186967", "HGNC:18939", "UMLS:C1425907", "UniProtKB:Q3LI73", "PR:Q3LI73", "ENSEMBL:ENSP00000335567", "ENSEMBL:ENSP00000335567.2"], "information_content": 100.0}
{"id": "NCBIGene:26740", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR1J2", "equivalent_identifiers": ["NCBIGene:26740", "ENSEMBL:ENSG00000197233", "HGNC:8209", "UMLS:C1418001", "UniProtKB:A0A126GW18", "UniProtKB:Q8NGS2", "PR:Q8NGS2", "ENSEMBL:ENSP00000335575", "ENSEMBL:ENSP00000335575.5"], "information_content": 100.0}
{"id": "NCBIGene:503582", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARGFX", "equivalent_identifiers": ["NCBIGene:503582", "ENSEMBL:ENSG00000186103", "HGNC:30146", "OMIM:611164", "UMLS:C1824195", "UniProtKB:A6NJG6", "PR:A6NJG6", "ENSEMBL:ENSP00000335578", "ENSEMBL:ENSP00000335578.3", "ENSEMBL:ENSP00000498601", "ENSEMBL:ENSP00000498601.1"], "information_content": 100.0}
{"id": "NCBIGene:55346", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCP11L1", "equivalent_identifiers": ["NCBIGene:55346", "ENSEMBL:ENSG00000176148", "HGNC:25655", "UMLS:C1823257", "UniProtKB:B3KQZ4", "UniProtKB:Q9NUJ3", "PR:Q9NUJ3", "ENSEMBL:ENSP00000335595", "ENSEMBL:ENSP00000335595.4", "ENSEMBL:ENSP00000395070", "ENSEMBL:ENSP00000395070.1", "ENSEMBL:ENSP00000433067", "ENSEMBL:ENSP00000433067.1"], "information_content": 95.4}
{"id": "UniProtKB:Q96FZ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CKLF-like MARVEL transmembrane domain-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FZ5-1", "PR:Q96FZ5-1", "ENSEMBL:ENSP00000335605", "ENSEMBL:ENSP00000335605.5"], "information_content": 100.0}
{"id": "MONDO:0032787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 12 with or without pancreatic agenesis", "equivalent_identifiers": ["MONDO:0032787", "DOID:0081398", "OMIM:618500", "UMLS:C5193131", "medgen:1684550"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z572-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis-associated protein 21 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z572-1", "PR:Q7Z572-1", "ENSEMBL:ENSP00000335612", "ENSEMBL:ENSP00000335612.1", "ENSEMBL:ENSP00000516863", "ENSEMBL:ENSP00000516863.1"], "information_content": 100.0}
{"id": "UniProtKB:O75145-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "liprin-alpha-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75145-1", "PR:O75145-1", "ENSEMBL:ENSP00000335614", "ENSEMBL:ENSP00000335614.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9P203-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P203-1", "PR:Q9P203-1", "ENSEMBL:ENSP00000335615", "ENSEMBL:ENSP00000335615.5", "ENSEMBL:ENSP00000479193", "ENSEMBL:ENSP00000479193.1"], "information_content": 100.0}
{"id": "MONDO:0020770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3", "equivalent_identifiers": ["MONDO:0020770", "DOID:0070465", "OMIM:618387", "EFO:0010249", "UMLS:C5193070", "medgen:1673607"], "information_content": 100.0}
{"id": "NCBIGene:2938", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSTA1", "equivalent_identifiers": ["NCBIGene:2938", "ENSEMBL:ENSG00000243955", "HGNC:4626", "OMIM:138359", "UMLS:C1415328", "UniProtKB:A0A140VJK4", "UniProtKB:B7Z1F9", "UniProtKB:P08263", "PR:P08263", "ENSEMBL:ENSP00000335620", "ENSEMBL:ENSP00000335620.5", "UMLS:C1436224", "MESH:C484555"], "information_content": 82.6}
{"id": "UniProtKB:Q86VR7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-set and immunoglobulin domain-containing protein 10-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VR7-1", "PR:Q86VR7-1", "ENSEMBL:ENSP00000335623", "ENSEMBL:ENSP00000335623.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5MJ70-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "speedy protein A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5MJ70-2", "PR:Q5MJ70-2", "ENSEMBL:ENSP00000335628", "ENSEMBL:ENSP00000335628.5", "ENSEMBL:ENSP00000368898", "ENSEMBL:ENSP00000368898.4"], "information_content": 100.0}
{"id": "NCBIGene:11261", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHP1", "equivalent_identifiers": ["NCBIGene:11261", "ENSEMBL:ENSG00000187446", "HGNC:17433", "OMIM:606988", "UMLS:C1846989", "UniProtKB:H0YKE7", "ENSEMBL:ENSP00000452772", "ENSEMBL:ENSP00000452772.1", "UMLS:C1172951", "MESH:C469743", "UniProtKB:Q99653", "PR:Q99653", "ENSEMBL:ENSP00000335632", "ENSEMBL:ENSP00000335632.5"], "information_content": 90.9}
{"id": "UniProtKB:P61599-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-alpha-acetyltransferase 20 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61599-1", "PR:P61599-1", "ENSEMBL:ENSP00000335636", "ENSEMBL:ENSP00000335636.4"], "information_content": 100.0}
{"id": "UniProtKB:A1L4K1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibronectin type III and SPRY domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A1L4K1-1", "PR:A1L4K1-1", "ENSEMBL:ENSP00000335651", "ENSEMBL:ENSP00000335651.8"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVF7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "formin-like protein 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVF7-3", "PR:Q8IVF7-3", "ENSEMBL:ENSP00000335655", "ENSEMBL:ENSP00000335655.5"], "information_content": 100.0}
{"id": "UniProtKB:Q01167-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein K2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01167-1", "PR:Q01167-1", "ENSEMBL:ENSP00000335677", "ENSEMBL:ENSP00000335677.5"], "information_content": 100.0}
{"id": "NCBIGene:80011", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSME3IP1", "equivalent_identifiers": ["NCBIGene:80011", "ENSEMBL:ENSG00000172775", "HGNC:29856", "OMIM:617766", "UMLS:C2829371", "UniProtKB:Q9GZU8", "PR:Q9GZU8", "ENSEMBL:ENSP00000335808", "ENSEMBL:ENSP00000335808.6", "ENSEMBL:ENSP00000456211", "ENSEMBL:ENSP00000456211.1", "ENSEMBL:ENSP00000457740", "ENSEMBL:ENSP00000457740.1", "ENSEMBL:ENSP00000457850", "ENSEMBL:ENSP00000457850.1", "UMLS:C5433535", "MESH:C000710669"], "information_content": 100.0}
{"id": "MONDO:0002186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute maxillary sinusitis", "equivalent_identifiers": ["MONDO:0002186", "DOID:2050", "UMLS:C0155804", "MEDDRA:10000858", "MEDDRA:10001078", "SNOMEDCT:68272006", "medgen:510086", "icd11.foundation:1617309258", "ICD10:J01.0", "ICD9:461.0"], "information_content": 100.0}
{"id": "UniProtKB:Q86TV6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetratricopeptide repeat protein 7B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86TV6-1", "PR:Q86TV6-1", "ENSEMBL:ENSP00000336127", "ENSEMBL:ENSP00000336127.4"], "information_content": 100.0}
{"id": "UniProtKB:O75469-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor subfamily 1 group I member 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O75469-7", "PR:O75469-7", "ENSEMBL:ENSP00000336528", "ENSEMBL:ENSP00000336528.4"], "information_content": 100.0}
{"id": "NCBIGene:9075", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN2", "equivalent_identifiers": ["NCBIGene:9075", "ENSEMBL:ENSG00000165376", "HGNC:2041", "OMIM:300520", "UMLS:C1413469", "UniProtKB:P57739", "PR:P57739", "ENSEMBL:ENSP00000336571", "ENSEMBL:ENSP00000336571.1", "ENSEMBL:ENSP00000441283", "ENSEMBL:ENSP00000441283.1", "ENSEMBL:ENSP00000443230", "ENSEMBL:ENSP00000443230.1", "UMLS:C1505483", "MESH:C491875"], "information_content": 95.4}
{"id": "NCBIGene:30850", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDR2L", "equivalent_identifiers": ["NCBIGene:30850", "ENSEMBL:ENSG00000109089", "HGNC:29999", "UMLS:C1824688", "UniProtKB:Q86X02", "PR:Q86X02", "ENSEMBL:ENSP00000336587", "ENSEMBL:ENSP00000336587.5"], "information_content": 95.4}
{"id": "MONDO:0018556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lambert-Eaton myasthenic syndrome", "equivalent_identifiers": ["MONDO:0018556", "DOID:0050214", "orphanet:43393", "EFO:0020094", "UMLS:C0022972", "MESH:D015624", "MEDDRA:10014070", "MEDDRA:10067685", "NCIT:C3155", "SNOMEDCT:56989000", "medgen:6005", "icd11:8C62", "icd11.foundation:796417193", "ICD10:G70.80", "ICD10:G73.1", "ICD9:358.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y620-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA repair and recombination protein RAD54B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y620-1", "PR:Q9Y620-1", "ENSEMBL:ENSP00000336606", "ENSEMBL:ENSP00000336606.5"], "information_content": 100.0}
{"id": "UniProtKB:Q7RTN6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "STE20-related kinase adapter protein alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTN6-1", "PR:Q7RTN6-1", "ENSEMBL:ENSP00000336655", "ENSEMBL:ENSP00000336655.6"], "information_content": 100.0}
{"id": "UniProtKB:P61966-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-1 complex subunit sigma-1A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61966-1", "PR:P61966-1", "ENSEMBL:ENSP00000336666", "ENSEMBL:ENSP00000336666.5", "ENSEMBL:ENSP00000410780", "ENSEMBL:ENSP00000410780.1"], "information_content": 100.0}
{"id": "NCBIGene:11335", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CBX3", "equivalent_identifiers": ["NCBIGene:11335", "ENSEMBL:ENSG00000122565", "HGNC:1553", "OMIM:604477", "UMLS:C1413158", "UniProtKB:A4D177", "UMLS:C1873406", "MESH:C518294", "UniProtKB:B8ZZ43", "ENSEMBL:ENSP00000387348", "ENSEMBL:ENSP00000387348.1", "UniProtKB:Q13185", "PR:Q13185", "ENSEMBL:ENSP00000336687", "ENSEMBL:ENSP00000336687.4", "ENSEMBL:ENSP00000379670", "ENSEMBL:ENSP00000379670.2", "UMLS:C2347768"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z5M8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ABHD12B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5M8-1", "PR:Q7Z5M8-1", "ENSEMBL:ENSP00000336693", "ENSEMBL:ENSP00000336693.2"], "information_content": 100.0}
{"id": "UniProtKB:O43502-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA repair protein RAD51 homolog 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43502-1", "PR:O43502-1", "ENSEMBL:ENSP00000336701", "ENSEMBL:ENSP00000336701.4"], "information_content": 100.0}
{"id": "UniProtKB:P63241-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 5A-1 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P63241-2", "PR:P63241-2", "ENSEMBL:ENSP00000336702", "ENSEMBL:ENSP00000336702.7", "ENSEMBL:ENSP00000500669", "ENSEMBL:ENSP00000500669.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92973-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transportin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92973-1", "PR:Q92973-1", "ENSEMBL:ENSP00000336712", "ENSEMBL:ENSP00000336712.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6PKG0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "La-related protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6PKG0-3", "PR:Q6PKG0-3", "ENSEMBL:ENSP00000336721", "ENSEMBL:ENSP00000336721.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUA7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 22A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUA7-1", "PR:Q8WUA7-1", "ENSEMBL:ENSP00000336724", "ENSEMBL:ENSP00000336724.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N428-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypeptide N-acetylgalactosaminyltransferase 16 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N428-1", "PR:Q8N428-1", "ENSEMBL:ENSP00000336729", "ENSEMBL:ENSP00000336729.4", "ENSEMBL:ENSP00000402970", "ENSEMBL:ENSP00000402970.3"], "information_content": 100.0}
{"id": "NCBIGene:27090", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ST6GALNAC4", "equivalent_identifiers": ["NCBIGene:27090", "ENSEMBL:ENSG00000136840", "HGNC:17846", "OMIM:606378", "UMLS:C1539870", "UniProtKB:A8K7N4", "UMLS:C1175896", "MESH:C485573", "UniProtKB:Q9H4F1", "PR:Q9H4F1", "ENSEMBL:ENSP00000336733", "ENSEMBL:ENSP00000336733.5"], "information_content": 100.0}
{"id": "UniProtKB:P53667-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM domain kinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P53667-1", "PR:P53667-1", "ENSEMBL:ENSP00000336740", "ENSEMBL:ENSP00000336740.2"], "information_content": 100.0}
{"id": "NCBIGene:1665", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DHX15", "equivalent_identifiers": ["NCBIGene:1665", "ENSEMBL:ENSG00000109606", "HGNC:2738", "OMIM:603403", "UMLS:C1413955", "UniProtKB:O43143", "PR:O43143", "ENSEMBL:ENSP00000336741", "ENSEMBL:ENSP00000336741.4", "UMLS:C2714743", "UMLS:C5444320", "MESH:C539469"], "information_content": 88.2}
{"id": "UniProtKB:O00291-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "huntingtin-interacting protein 1 isoform hHIP1-1 (human)", "equivalent_identifiers": ["UniProtKB:O00291-1", "PR:O00291-1", "ENSEMBL:ENSP00000336747", "ENSEMBL:ENSP00000336747.6"], "information_content": 100.0}
{"id": "MONDO:0007493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "torsion dystonia 4", "equivalent_identifiers": ["MONDO:0007493", "DOID:0090041", "OMIM:128101", "orphanet:98805", "UMLS:C1851943", "UMLS:C1860315", "MESH:C536698", "MESH:C538004", "SNOMEDCT:719276005", "medgen:342124"], "information_content": 100.0}
{"id": "MONDO:0004671", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "penis carcinoma in situ", "equivalent_identifiers": ["MONDO:0004671", "DOID:8872", "UMLS:C0154089", "MEDDRA:10007384", "MEDDRA:10034328", "MEDDRA:10037732", "NCIT:C27790", "SNOMEDCT:18348002", "SNOMEDCT:398831006", "SNOMEDCT:400092004", "SNOMEDCT:92679008", "medgen:102309", "ICD10:D07.4", "ICD9:233.5"], "information_content": 90.9}
{"id": "MONDO:0011532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 13", "equivalent_identifiers": ["MONDO:0011532", "DOID:0110766", "OMIM:605280", "orphanet:100994", "UMLS:C1854467", "MESH:C537485", "SNOMEDCT:783698005", "medgen:344289"], "information_content": 100.0}
{"id": "UniProtKB:Q6UN15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pre-mRNA 3'-end-processing factor FIP1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UN15-1", "PR:Q6UN15-1", "ENSEMBL:ENSP00000336752", "ENSEMBL:ENSP00000336752.6", "ENSEMBL:ENSP00000515339", "ENSEMBL:ENSP00000515339.1"], "information_content": 100.0}
{"id": "NCBIGene:283", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANG", "equivalent_identifiers": ["NCBIGene:283", "ENSEMBL:ENSG00000214274", "HGNC:483", "OMIM:105850", "UMLS:C1367482", "UniProtKB:P03950", "PR:P03950", "ENSEMBL:ENSP00000336762", "ENSEMBL:ENSP00000336762.6", "ENSEMBL:ENSP00000381077", "ENSEMBL:ENSP00000381077.4", "UMLS:C3179204", "UniProtKB:W0UV28"], "information_content": 88.2}
{"id": "UniProtKB:P43626-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "killer cell immunoglobulin-like receptor 2DL1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43626-1", "PR:P43626-1", "ENSEMBL:ENSP00000336769", "ENSEMBL:ENSP00000336769.5", "ENSEMBL:ENSP00000477690", "ENSEMBL:ENSP00000477690.1", "ENSEMBL:ENSP00000478054", "ENSEMBL:ENSP00000478054.1", "ENSEMBL:ENSP00000478202", "ENSEMBL:ENSP00000478202.1", "ENSEMBL:ENSP00000478567", "ENSEMBL:ENSP00000478567.1", "ENSEMBL:ENSP00000478604", "ENSEMBL:ENSP00000478604.1", "ENSEMBL:ENSP00000478633", "ENSEMBL:ENSP00000478633.1", "ENSEMBL:ENSP00000479644", "ENSEMBL:ENSP00000479644.1", "ENSEMBL:ENSP00000480247", "ENSEMBL:ENSP00000480247.1", "ENSEMBL:ENSP00000480989", "ENSEMBL:ENSP00000480989.1", "ENSEMBL:ENSP00000482449", "ENSEMBL:ENSP00000482449.1", "ENSEMBL:ENSP00000482501", "ENSEMBL:ENSP00000482501.1", "ENSEMBL:ENSP00000482506", "ENSEMBL:ENSP00000482506.1", "ENSEMBL:ENSP00000483525", "ENSEMBL:ENSP00000483525.1", "ENSEMBL:ENSP00000491348", "ENSEMBL:ENSP00000491348.1", "ENSEMBL:ENSP00000491930", "ENSEMBL:ENSP00000491930.1", "ENSEMBL:ENSP00000492250", "ENSEMBL:ENSP00000492250.1", "ENSEMBL:ENSP00000492477", "ENSEMBL:ENSP00000492477.1"], "information_content": 100.0}
{"id": "UniProtKB:O15061-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synemin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15061-1", "PR:O15061-1", "ENSEMBL:ENSP00000336775", "ENSEMBL:ENSP00000336775.7"], "information_content": 100.0}
{"id": "NCBIGene:468", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATF4", "equivalent_identifiers": ["NCBIGene:468", "ENSEMBL:ENSG00000128272", "HGNC:786", "OMIM:604064", "UMLS:C1412617", "UniProtKB:P18848", "PR:P18848", "ENSEMBL:ENSP00000336790", "ENSEMBL:ENSP00000336790.2", "ENSEMBL:ENSP00000379912", "ENSEMBL:ENSP00000379912.1", "ENSEMBL:ENSP00000384587", "ENSEMBL:ENSP00000384587.2", "ENSEMBL:ENSP00000501783", "ENSEMBL:ENSP00000501783.2", "ENSEMBL:ENSP00000501863", "ENSEMBL:ENSP00000501863.1", "ENSEMBL:ENSP00000502400", "ENSEMBL:ENSP00000502400.2", "ENSEMBL:ENSP00000502610", "ENSEMBL:ENSP00000502610.2", "ENSEMBL:ENSP00000505360", "ENSEMBL:ENSP00000505360.1", "UMLS:C1566322", "MESH:C497109"], "information_content": 92.8}
{"id": "UniProtKB:P68363-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin alpha-1B chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P68363-1", "PR:P68363-1", "ENSEMBL:ENSP00000336799", "ENSEMBL:ENSP00000336799.5"], "information_content": 100.0}
{"id": "NCBIGene:64410", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHL25", "equivalent_identifiers": ["NCBIGene:64410", "ENSEMBL:ENSG00000183655", "HGNC:25732", "OMIM:619893", "UMLS:C1825727", "UniProtKB:Q9H0H3", "PR:Q9H0H3", "ENSEMBL:ENSP00000336800", "ENSEMBL:ENSP00000336800.5", "UMLS:C4507465", "MESH:C000620120"], "information_content": 92.8}
{"id": "UniProtKB:Q86TE4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine zipper protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86TE4-1", "PR:Q86TE4-1", "ENSEMBL:ENSP00000336817", "ENSEMBL:ENSP00000336817.6"], "information_content": 100.0}
{"id": "MONDO:0008746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oculocutaneous albinism type 2", "equivalent_identifiers": ["MONDO:0008746", "DOID:0070096", "OMIM:203200", "orphanet:79432", "UMLS:C0268495", "UMLS:C0268497", "MESH:C537730", "MESH:C562662", "SNOMEDCT:11160000", "SNOMEDCT:26336006", "medgen:82810", "icd11.foundation:2019316252"], "information_content": 100.0}
{"id": "UniProtKB:P02679-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibrinogen gamma chain isoform Gamma-B (human)", "equivalent_identifiers": ["UniProtKB:P02679-1", "PR:P02679-1", "ENSEMBL:ENSP00000336829", "ENSEMBL:ENSP00000336829.3"], "information_content": 100.0}
{"id": "NCBIGene:5357", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLS1", "equivalent_identifiers": ["NCBIGene:5357", "ENSEMBL:ENSG00000120756", "HGNC:9090", "OMIM:602734", "UMLS:C1418657", "UniProtKB:Q14651", "PR:Q14651", "ENSEMBL:ENSP00000336831", "ENSEMBL:ENSP00000336831.3", "ENSEMBL:ENSP00000387890", "ENSEMBL:ENSP00000387890.2", "ENSEMBL:ENSP00000418700", "ENSEMBL:ENSP00000418700.1", "UMLS:C1505793"], "information_content": 90.9}
{"id": "UniProtKB:Q86VS3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IQ domain-containing protein H isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VS3-1", "PR:Q86VS3-1", "ENSEMBL:ENSP00000336861", "ENSEMBL:ENSP00000336861.4"], "information_content": 100.0}
{"id": "UniProtKB:O75884-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine hydrolase RBBP9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75884-1", "PR:O75884-1", "ENSEMBL:ENSP00000336866", "ENSEMBL:ENSP00000336866.4"], "information_content": 100.0}
{"id": "UniProtKB:P49450-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone H3-like centromeric protein A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49450-1", "PR:P49450-1", "ENSEMBL:ENSP00000336868", "ENSEMBL:ENSP00000336868.4"], "information_content": 100.0}
{"id": "MONDO:0008364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Raynaud disease", "equivalent_identifiers": ["MONDO:0008364", "DOID:10300", "OMIM:179600", "EFO:1001145", "UMLS:C0034734", "UMLS:C0034735", "UMLS:C1282916", "MESH:D011928", "MEDDRA:10037910", "MEDDRA:10037912", "MEDDRA:10037914", "MEDDRA:10037917", "NCIT:C116359", "NCIT:C50724", "SNOMEDCT:195295006", "SNOMEDCT:266261006", "SNOMEDCT:356198000", "medgen:20473", "ICD10:I73.0", "HP:0030880"], "information_content": 92.8}
{"id": "UniProtKB:Q9NUM3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc transporter ZIP9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUM3-1", "PR:Q9NUM3-1", "ENSEMBL:ENSP00000336887", "ENSEMBL:ENSP00000336887.5", "ENSEMBL:ENSP00000450639", "ENSEMBL:ENSP00000450639.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13506-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NGFI-A-binding protein 1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q13506-1", "PR:Q13506-1", "ENSEMBL:ENSP00000336894", "ENSEMBL:ENSP00000336894.5", "ENSEMBL:ENSP00000387089", "ENSEMBL:ENSP00000387089.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5JSP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FYVE, RhoGEF and PH domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JSP0-1", "PR:Q5JSP0-1", "ENSEMBL:ENSP00000336914", "ENSEMBL:ENSP00000336914.6", "ENSEMBL:ENSP00000364631", "ENSEMBL:ENSP00000364631.3", "ENSEMBL:ENSP00000496819", "ENSEMBL:ENSP00000496819.1"], "information_content": 100.0}
{"id": "NCBIGene:79658", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGAP10", "equivalent_identifiers": ["NCBIGene:79658", "ENSEMBL:ENSG00000071205", "HGNC:26099", "OMIM:609746", "UMLS:C1538921", "UniProtKB:A0A2X0SFB3", "UMLS:C1144101", "MESH:C486050", "UniProtKB:A1A4S6", "PR:A1A4S6", "ENSEMBL:ENSP00000336923", "ENSEMBL:ENSP00000336923.3"], "information_content": 95.4}
{"id": "UniProtKB:Q12796-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich nuclear receptor coactivator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12796-1", "PR:Q12796-1", "ENSEMBL:ENSP00000336931", "ENSEMBL:ENSP00000336931.3"], "information_content": 100.0}
{"id": "UniProtKB:O96005-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative lipid scramblase CLPTM1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O96005-1", "PR:O96005-1", "ENSEMBL:ENSP00000336994", "ENSEMBL:ENSP00000336994.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZVN8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hemojuvelin isoform a (human)", "equivalent_identifiers": ["UniProtKB:Q6ZVN8-1", "PR:Q6ZVN8-1", "ENSEMBL:ENSP00000337014", "ENSEMBL:ENSP00000337014.5"], "information_content": 100.0}
{"id": "UniProtKB:Q13432-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein unc-119 homolog A isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q13432-1", "PR:Q13432-1", "ENSEMBL:ENSP00000337040", "ENSEMBL:ENSP00000337040.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBV2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein sel-1 homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBV2-1", "PR:Q9UBV2-1", "ENSEMBL:ENSP00000337053", "ENSEMBL:ENSP00000337053.4"], "information_content": 100.0}
{"id": "UniProtKB:P15531-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoside diphosphate kinase A isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P15531-2", "PR:P15531-2", "ENSEMBL:ENSP00000013034", "ENSEMBL:ENSP00000013034.3", "ENSEMBL:ENSP00000337060", "ENSEMBL:ENSP00000337060.3"], "information_content": 100.0}
{"id": "NCBIGene:9547", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCL14", "equivalent_identifiers": ["NCBIGene:9547", "ENSEMBL:ENSG00000145824", "HGNC:10640", "OMIM:604186", "UMLS:C1332818", "UniProtKB:O95715", "PR:O95715", "ENSEMBL:ENSP00000337065", "ENSEMBL:ENSP00000337065.5", "UMLS:C1335988", "MESH:C118056"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJU3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 112 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJU3-1", "PR:Q9UJU3-1", "ENSEMBL:ENSP00000337081", "ENSEMBL:ENSP00000337081.3"], "information_content": 100.0}
{"id": "MONDO:0015688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2", "equivalent_identifiers": ["MONDO:0015688", "DOID:0080164", "orphanet:168943", "UMLS:C2827356", "NCIT:C84270", "medgen:417664"], "information_content": 79.9}
{"id": "UniProtKB:P28329-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choline O-acetyltransferase isoform M (human)", "equivalent_identifiers": ["UniProtKB:P28329-1", "PR:P28329-1", "ENSEMBL:ENSP00000337103", "ENSEMBL:ENSP00000337103.2"], "information_content": 100.0}
{"id": "NCBIGene:6940", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF354A", "equivalent_identifiers": ["NCBIGene:6940", "ENSEMBL:ENSG00000169131", "HGNC:11628", "OMIM:602444", "UMLS:C1420634", "UniProtKB:O60765", "PR:O60765", "ENSEMBL:ENSP00000337122", "ENSEMBL:ENSP00000337122.2", "UMLS:C1308898", "MESH:C410184", "UniProtKB:V9HWI2"], "information_content": 100.0}
{"id": "UniProtKB:P14138-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endothelin-3 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P14138-1", "PR:P14138-1", "ENSEMBL:ENSP00000337128", "ENSEMBL:ENSP00000337128.2", "ENSEMBL:ENSP00000360067", "ENSEMBL:ENSP00000360067.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86WD7-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serpin A9 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q86WD7-7", "PR:Q86WD7-7", "ENSEMBL:ENSP00000337133", "ENSEMBL:ENSP00000337133.5"], "information_content": 100.0}
{"id": "MONDO:0018905", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse large B-cell lymphoma", "equivalent_identifiers": ["MONDO:0018905", "DOID:0050745", "orphanet:544", "EFO:0000403", "UMLS:C0079744", "UMLS:C2699777", "MESH:D016403", "MEDDRA:10012818", "MEDDRA:10012819", "MEDDRA:10012820", "NCIT:C80280", "NCIT:C8851", "SNOMEDCT:109969005", "SNOMEDCT:1172695008", "medgen:86954", "icd11:2A81.Z", "icd11.foundation:1946973604"], "information_content": 64.2}
{"id": "MONDO:0007243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Burkitt lymphoma", "equivalent_identifiers": ["MONDO:0007243", "DOID:8584", "OMIM:113970", "orphanet:543", "EFO:0000309", "UMLS:C0006413", "UMLS:C0079770", "UMLS:C1368771", "MESH:D002051", "MEDDRA:10006595", "MEDDRA:10006596", "MEDDRA:10006597", "MEDDRA:10006604", "MEDDRA:10006605", "MEDDRA:10006627", "MEDDRA:10053518", "MEDDRA:10073809", "NCIT:C2912", "NCIT:C6917", "SNOMEDCT:118617000", "SNOMEDCT:22197008", "SNOMEDCT:397400006", "SNOMEDCT:77381001", "medgen:2377", "icd11.foundation:2100138081", "ICD10:C83.7", "ICD9:200.2", "HP:0030080"], "information_content": 72.1}
{"id": "MONDO:0018906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "follicular lymphoma", "equivalent_identifiers": ["MONDO:0018906", "DOID:0050873", "orphanet:545", "UMLS:C0024301", "MESH:D008224", "MEDDRA:10029473", "MEDDRA:10029478", "MEDDRA:10085128", "MEDDRA:10085262", "NCIT:C3209", "SNOMEDCT:303055001", "SNOMEDCT:307637005", "SNOMEDCT:308121000", "SNOMEDCT:55150002", "medgen:7417", "icd11.foundation:797822185", "HP:0033125"], "information_content": 71.2}
{"id": "MONDO:0017604", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "marginal zone lymphoma", "equivalent_identifiers": ["MONDO:0017604", "DOID:0050748", "orphanet:300912", "EFO:1000630", "UMLS:C1367654", "MEDDRA:10076596", "NCIT:C4341", "SNOMEDCT:447100004", "medgen:277950"], "information_content": 73.0}
{"id": "MONDO:0018876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mantle cell lymphoma", "equivalent_identifiers": ["MONDO:0018876", "DOID:0050746", "orphanet:52416", "EFO:1001469", "UMLS:C0334638", "UMLS:C4721414", "MESH:D020522", "MEDDRA:10026798", "MEDDRA:10026799", "MEDDRA:10026806", "MEDDRA:10061275", "NCIT:C4337", "NCIT:C4339", "SNOMEDCT:443487006", "SNOMEDCT:74654000", "medgen:1668377", "icd11.foundation:1804127841"], "information_content": 75.3}
{"id": "UniProtKB:Q16206-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ecto-NOX disulfide-thiol exchanger 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16206-1", "PR:Q16206-1", "ENSEMBL:ENSP00000337146", "ENSEMBL:ENSP00000337146.3", "ENSEMBL:ENSP00000359965", "ENSEMBL:ENSP00000359965.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H4G0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "band 4.1-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4G0-1", "PR:Q9H4G0-1", "ENSEMBL:ENSP00000337168", "ENSEMBL:ENSP00000337168.2"], "information_content": 100.0}
{"id": "NCBIGene:51582", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AZIN1", "equivalent_identifiers": ["NCBIGene:51582", "ENSEMBL:ENSG00000155096", "HGNC:16432", "OMIM:607909", "UMLS:C1538311", "UniProtKB:A0A804HLH4", "ENSEMBL:ENSP00000508352", "ENSEMBL:ENSP00000508352.1", "UniProtKB:B3KTF6", "UMLS:C1433971", "MESH:C484011", "UniProtKB:O14977", "PR:O14977", "ENSEMBL:ENSP00000321507", "ENSEMBL:ENSP00000321507.4", "ENSEMBL:ENSP00000337180", "ENSEMBL:ENSP00000337180.5", "ENSEMBL:ENSP00000506895", "ENSEMBL:ENSP00000506895.1", "ENSEMBL:ENSP00000506898", "ENSEMBL:ENSP00000506898.1", "ENSEMBL:ENSP00000507451", "ENSEMBL:ENSP00000507451.1"], "information_content": 95.4}
{"id": "NCBIGene:8899", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRP4K", "equivalent_identifiers": ["NCBIGene:8899", "ENSEMBL:ENSG00000112739", "HGNC:17346", "OMIM:602338", "UMLS:C1424919", "UniProtKB:Q13523", "PR:Q13523", "ENSEMBL:ENSP00000337194", "ENSEMBL:ENSP00000337194.6", "ENSEMBL:ENSP00000433547", "ENSEMBL:ENSP00000433547.1", "UMLS:C1434297", "MESH:C489984"], "information_content": 90.9}
{"id": "NCBIGene:9227", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRAT", "equivalent_identifiers": ["NCBIGene:9227", "ENSEMBL:ENSG00000121207", "HGNC:6685", "OMIM:604863", "UMLS:C1416905", "UniProtKB:O95237", "PR:O95237", "ENSEMBL:ENSP00000337224", "ENSEMBL:ENSP00000337224.3", "ENSEMBL:ENSP00000426761", "ENSEMBL:ENSP00000426761.1"], "information_content": 95.4}
{"id": "NCBIGene:55038", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDCA4", "equivalent_identifiers": ["NCBIGene:55038", "ENSEMBL:ENSG00000170779", "HGNC:14625", "OMIM:612270", "UMLS:C1422797", "UniProtKB:Q9BXL8", "PR:Q9BXL8", "ENSEMBL:ENSP00000337226", "ENSEMBL:ENSP00000337226.3", "ENSEMBL:ENSP00000376369", "ENSEMBL:ENSP00000376369.3", "UMLS:C1872852", "MESH:C515965"], "information_content": 92.8}
{"id": "UniProtKB:Q92888-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q92888-3", "PR:Q92888-3", "ENSEMBL:ENSP00000337261", "ENSEMBL:ENSP00000337261.3"], "information_content": 100.0}
{"id": "NCBIGene:55166", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CENPQ", "equivalent_identifiers": ["NCBIGene:55166", "ENSEMBL:ENSG00000031691", "HGNC:21347", "OMIM:611506", "UMLS:C1824706", "UniProtKB:Q7L2Z9", "PR:Q7L2Z9", "ENSEMBL:ENSP00000337289", "ENSEMBL:ENSP00000337289.2", "UMLS:C3177897", "MESH:C559900"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6T7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NAD-dependent protein deacylase sirtuin-6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6T7-1", "PR:Q8N6T7-1", "ENSEMBL:ENSP00000337332", "ENSEMBL:ENSP00000337332.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCC7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "organic anion transporter 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCC7-1", "PR:Q8TCC7-1", "ENSEMBL:ENSP00000337335", "ENSEMBL:ENSP00000337335.2", "ENSEMBL:ENSP00000398548", "ENSEMBL:ENSP00000398548.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosyl-DNA phosphodiesterase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUW8-1", "PR:Q9NUW8-1", "ENSEMBL:ENSP00000337353", "ENSEMBL:ENSP00000337353.4", "ENSEMBL:ENSP00000377099", "ENSEMBL:ENSP00000377099.2"], "information_content": 100.0}
{"id": "UniProtKB:P38571-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal acid lipase/cholesteryl ester hydrolase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P38571-1", "PR:P38571-1", "ENSEMBL:ENSP00000337354", "ENSEMBL:ENSP00000337354.5"], "information_content": 100.0}
{"id": "NCBIGene:7767", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF224", "equivalent_identifiers": ["NCBIGene:7767", "ENSEMBL:ENSG00000267680", "HGNC:13017", "OMIM:194555", "UMLS:C1421713", "UniProtKB:Q9NZL3", "PR:Q9NZL3", "ENSEMBL:ENSP00000337368", "ENSEMBL:ENSP00000337368.5", "ENSEMBL:ENSP00000508532", "ENSEMBL:ENSP00000508532.1", "ENSEMBL:ENSP00000509045", "ENSEMBL:ENSP00000509045.1", "UMLS:C1173181", "MESH:C470003"], "information_content": 100.0}
{"id": "NCBIGene:114548", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NLRP3", "equivalent_identifiers": ["NCBIGene:114548", "ENSEMBL:ENSG00000162711", "HGNC:16400", "OMIM:606416", "UMLS:C1424250", "UniProtKB:A0A7I2PJH0", "ENSEMBL:ENSP00000294752", "ENSEMBL:ENSP00000294752.4", "UniProtKB:A0A7I2PMC6", "ENSEMBL:ENSP00000355452", "ENSEMBL:ENSP00000355452.3", "ENSEMBL:ENSP00000520480", "ENSEMBL:ENSP00000520480.1", "UniProtKB:A0A7I2PRX0", "ENSEMBL:ENSP00000375703", "ENSEMBL:ENSP00000375703.3", "UniProtKB:A0A7I2R3P8", "ENSEMBL:ENSP00000337383", "ENSEMBL:ENSP00000337383.4", "ENSEMBL:ENSP00000375704", "ENSEMBL:ENSP00000375704.4", "ENSEMBL:ENSP00000513275", "ENSEMBL:ENSP00000513275.1", "UniProtKB:Q96P20", "PR:Q96P20", "UMLS:C1384660", "MESH:C453881"]}
{"id": "NCBIGene:677", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFP36L1", "equivalent_identifiers": ["NCBIGene:677", "ENSEMBL:ENSG00000185650", "HGNC:1107", "OMIM:601064", "UMLS:C1412824", "UniProtKB:B3KNA8", "UMLS:C1430468", "MESH:C102034", "UniProtKB:Q07352", "PR:Q07352", "ENSEMBL:ENSP00000337386", "ENSEMBL:ENSP00000337386.3", "ENSEMBL:ENSP00000388402", "ENSEMBL:ENSP00000388402.2"], "information_content": 84.2}
{"id": "UniProtKB:Q9UBK9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein UXT isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBK9-2", "PR:Q9UBK9-2", "ENSEMBL:ENSP00000337393", "ENSEMBL:ENSP00000337393.2"], "information_content": 100.0}
{"id": "NCBIGene:112744", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL17F", "equivalent_identifiers": ["NCBIGene:112744", "ENSEMBL:ENSG00000112116", "HGNC:16404", "OMIM:606496", "UMLS:C1424252", "UniProtKB:Q96PD4", "PR:Q96PD4", "ENSEMBL:ENSP00000337432", "ENSEMBL:ENSP00000337432.4", "ENSEMBL:ENSP00000514702", "ENSEMBL:ENSP00000514702.1", "UMLS:C1432339", "MESH:C440021"], "information_content": 95.4}
{"id": "UniProtKB:Q9NYF0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dapper homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYF0-1", "PR:Q9NYF0-1", "ENSEMBL:ENSP00000337439", "ENSEMBL:ENSP00000337439.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6DKJ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoredoxin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6DKJ4-1", "PR:Q6DKJ4-1", "ENSEMBL:ENSP00000337443", "ENSEMBL:ENSP00000337443.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQ52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc phosphodiesterase ELAC protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQ52-1", "PR:Q9BQ52-1", "ENSEMBL:ENSP00000337445", "ENSEMBL:ENSP00000337445.4"], "information_content": 100.0}
{"id": "MONDO:0015301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary cutaneous amyloidosis", "equivalent_identifiers": ["MONDO:0015301", "DOID:0050639", "orphanet:137807", "UMLS:C0268397", "MESH:C562642", "NCIT:C199391", "SNOMEDCT:282834007", "SNOMEDCT:733729003", "medgen:120635"], "information_content": 85.5}
{"id": "UniProtKB:Q14849-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "StAR-related lipid transfer protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14849-1", "PR:Q14849-1", "ENSEMBL:ENSP00000337446", "ENSEMBL:ENSP00000337446.5"], "information_content": 100.0}
{"id": "UniProtKB:P24462-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 3A7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P24462-1", "PR:P24462-1", "ENSEMBL:ENSP00000337450", "ENSEMBL:ENSP00000337450.2"], "information_content": 100.0}
{"id": "MONDO:0005566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal abstinence syndrome", "equivalent_identifiers": ["MONDO:0005566", "DOID:9828", "EFO:0005799", "UMLS:C0027609", "UMLS:C1332133", "MESH:D009357", "MEDDRA:10013755", "MEDDRA:10013756", "MEDDRA:10048012", "MEDDRA:10074192", "NCIT:C35808", "NCIT:C87101", "SNOMEDCT:414819007", "medgen:10207", "ICD10:P96.1", "ICD9:779.5"], "information_content": 100.0}
{"id": "UniProtKB:P29320-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin type-A receptor 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P29320-1", "PR:P29320-1", "ENSEMBL:ENSP00000337451", "ENSEMBL:ENSP00000337451.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7RTP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "magnesium transporter NIPA1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTP0-1", "PR:Q7RTP0-1", "ENSEMBL:ENSP00000337452", "ENSEMBL:ENSP00000337452.4", "ENSEMBL:ENSP00000500129", "ENSEMBL:ENSP00000500129.1", "ENSEMBL:ENSP00000500344", "ENSEMBL:ENSP00000500344.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUB3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein WFDC10B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUB3-2", "PR:Q8IUB3-2", "ENSEMBL:ENSP00000337466", "ENSEMBL:ENSP00000337466.2"], "information_content": 100.0}
{"id": "MONDO:0001482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular leukemia", "equivalent_identifiers": ["MONDO:0001482", "DOID:12286", "UMLS:C1336711", "NCIT:C9277", "medgen:234941"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor-like protein 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVW1-1", "PR:Q8IVW1-1", "ENSEMBL:ENSP00000337478", "ENSEMBL:ENSP00000337478.6", "ENSEMBL:ENSP00000404247", "ENSEMBL:ENSP00000404247.4", "ENSEMBL:ENSP00000481838", "ENSEMBL:ENSP00000481838.1", "ENSEMBL:ENSP00000483271", "ENSEMBL:ENSP00000483271.1", "ENSEMBL:ENSP00000516308", "ENSEMBL:ENSP00000516308.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86SE9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Polycomb group RING finger protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86SE9-1", "PR:Q86SE9-1", "ENSEMBL:ENSP00000337500", "ENSEMBL:ENSP00000337500.5", "ENSEMBL:ENSP00000445704", "ENSEMBL:ENSP00000445704.1", "ENSEMBL:ENSP00000479492", "ENSEMBL:ENSP00000479492.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQI9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor-interacting protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQI9-1", "PR:Q9BQI9-1", "ENSEMBL:ENSP00000337501", "ENSEMBL:ENSP00000337501.4"], "information_content": 100.0}
{"id": "NCBIGene:51725", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXO40", "equivalent_identifiers": ["NCBIGene:51725", "ENSEMBL:ENSG00000163833", "HGNC:29816", "OMIM:609107", "UMLS:C1539494", "UniProtKB:Q9UH90", "PR:Q9UH90", "ENSEMBL:ENSP00000337510", "ENSEMBL:ENSP00000337510.4", "UMLS:C2003506", "MESH:C525752"], "information_content": 100.0}
{"id": "NCBIGene:10011", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRA1", "equivalent_identifiers": ["NCBIGene:10011", "ENSEMBL:ENSG00000213523", "HGNC:11281", "OMIM:603819", "UMLS:C1420394", "UniProtKB:Q9HD15", "PR:Q9HD15", "ENSEMBL:ENSP00000337513", "ENSEMBL:ENSP00000337513.6", "UMLS:C2933438", "MESH:C548898"], "information_content": 100.0}
{"id": "UniProtKB:Q86XP1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diacylglycerol kinase eta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XP1-1", "PR:Q86XP1-1", "ENSEMBL:ENSP00000337572", "ENSEMBL:ENSP00000337572.4"], "information_content": 100.0}
{"id": "MONDO:0012370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 51", "equivalent_identifiers": ["MONDO:0012370", "DOID:0110508", "OMIM:609941", "UMLS:C1864968", "MESH:C538202", "medgen:355880"], "information_content": 100.0}
{"id": "NCBIGene:92086", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GGTLC1", "equivalent_identifiers": ["NCBIGene:92086", "ENSEMBL:ENSG00000149435", "HGNC:16437", "OMIM:612338", "UMLS:C1424278", "UniProtKB:Q9BX51", "PR:Q9BX51", "ENSEMBL:ENSP00000278765", "ENSEMBL:ENSP00000278765.4", "ENSEMBL:ENSP00000286890", "ENSEMBL:ENSP00000286890.4", "ENSEMBL:ENSP00000337587", "ENSEMBL:ENSP00000337587.4"], "information_content": 100.0}
{"id": "MONDO:0013437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 43", "equivalent_identifiers": ["MONDO:0013437", "DOID:0110379", "OMIM:613810", "UMLS:C3151139", "medgen:462489"], "information_content": 100.0}
{"id": "UniProtKB:P48059-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM and senescent cell antigen-like-containing domain protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P48059-3", "PR:P48059-3", "ENSEMBL:ENSP00000337598", "ENSEMBL:ENSP00000337598.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N8Q9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "magnesium transporter NIPA2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8Q9-1", "PR:Q8N8Q9-1", "ENSEMBL:ENSP00000337618", "ENSEMBL:ENSP00000337618.3", "ENSEMBL:ENSP00000381095", "ENSEMBL:ENSP00000381095.3", "ENSEMBL:ENSP00000501373", "ENSEMBL:ENSP00000501373.1", "ENSEMBL:ENSP00000501408", "ENSEMBL:ENSP00000501408.1", "ENSEMBL:ENSP00000501412", "ENSEMBL:ENSP00000501412.1", "ENSEMBL:ENSP00000501489", "ENSEMBL:ENSP00000501489.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5TBB1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribonuclease H2 subunit B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TBB1-1", "PR:Q5TBB1-1", "ENSEMBL:ENSP00000337623", "ENSEMBL:ENSP00000337623.2"], "information_content": 100.0}
{"id": "NCBIGene:84324", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SARNP", "equivalent_identifiers": ["NCBIGene:84324", "ENSEMBL:ENSG00000205323", "HGNC:24432", "OMIM:610049", "UMLS:C1864736", "UniProtKB:P82979", "PR:P82979", "ENSEMBL:ENSP00000337632", "ENSEMBL:ENSP00000337632.3", "ENSEMBL:ENSP00000449409", "ENSEMBL:ENSP00000449409.1", "UMLS:C0967083", "UMLS:C3273763", "MESH:C429143"], "information_content": 88.2}
{"id": "UniProtKB:Q16537-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16537-1", "PR:Q16537-1", "ENSEMBL:ENSP00000337641", "ENSEMBL:ENSP00000337641.3"], "information_content": 100.0}
{"id": "UniProtKB:O00559-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-binding cancer antigen expressed on SiSo cells isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00559-1", "PR:O00559-1", "ENSEMBL:ENSP00000337675", "ENSEMBL:ENSP00000337675.5", "ENSEMBL:ENSP00000379131", "ENSEMBL:ENSP00000379131.2", "ENSEMBL:ENSP00000477645", "ENSEMBL:ENSP00000477645.1", "ENSEMBL:ENSP00000514313", "ENSEMBL:ENSP00000514313.1"], "information_content": 100.0}
{"id": "NCBIGene:7095", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEC62", "equivalent_identifiers": ["NCBIGene:7095", "ENSEMBL:ENSG00000008952", "HGNC:11846", "OMIM:602173", "UMLS:C1420761", "UniProtKB:Q99442", "PR:Q99442", "ENSEMBL:ENSP00000337688", "ENSEMBL:ENSP00000337688.4", "ENSEMBL:ENSP00000420331", "ENSEMBL:ENSP00000420331.1", "UMLS:C0534375", "MESH:C103676"], "information_content": 89.4}
{"id": "UniProtKB:Q8TD08-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TD08-1", "PR:Q8TD08-1", "ENSEMBL:ENSP00000337691", "ENSEMBL:ENSP00000337691.4", "ENSEMBL:ENSP00000483093", "ENSEMBL:ENSP00000483093.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96AD5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "patatin-like phospholipase domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AD5-1", "PR:Q96AD5-1", "ENSEMBL:ENSP00000337701", "ENSEMBL:ENSP00000337701.4"], "information_content": 100.0}
{"id": "NCBIGene:27141", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIDEB", "equivalent_identifiers": ["NCBIGene:27141", "ENSEMBL:ENSG00000136305", "HGNC:1977", "OMIM:604441", "UMLS:C1413422", "UniProtKB:Q9UHD4", "PR:Q9UHD4", "ENSEMBL:ENSP00000258807", "ENSEMBL:ENSP00000258807.5", "ENSEMBL:ENSP00000337731", "ENSEMBL:ENSP00000337731.5", "ENSEMBL:ENSP00000451089", "ENSEMBL:ENSP00000451089.1", "ENSEMBL:ENSP00000493738", "ENSEMBL:ENSP00000493738.1", "ENSEMBL:ENSP00000494868", "ENSEMBL:ENSP00000494868.1", "ENSEMBL:ENSP00000495235", "ENSEMBL:ENSP00000495235.1", "UMLS:C1431327", "MESH:C112511"], "information_content": 100.0}
{"id": "UniProtKB:Q96NL0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RUN domain-containing protein 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NL0-1", "PR:Q96NL0-1", "ENSEMBL:ENSP00000337732", "ENSEMBL:ENSP00000337732.3"], "information_content": 100.0}
{"id": "MONDO:0014112", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiofaciocutaneous syndrome 2", "equivalent_identifiers": ["MONDO:0014112", "DOID:0111461", "OMIM:615278", "UMLS:C3809005", "medgen:815335"], "information_content": 100.0}
{"id": "MONDO:0014113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiofaciocutaneous syndrome 3", "equivalent_identifiers": ["MONDO:0014113", "DOID:0111462", "OMIM:615279", "UMLS:C3809006", "medgen:815336"], "information_content": 100.0}
{"id": "NCBIGene:25818", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLK5", "equivalent_identifiers": ["NCBIGene:25818", "ENSEMBL:ENSG00000167754", "HGNC:6366", "OMIM:605643", "UMLS:C1416676", "UniProtKB:Q9Y337", "PR:Q9Y337", "ENSEMBL:ENSP00000337733", "ENSEMBL:ENSP00000337733.2", "ENSEMBL:ENSP00000375685", "ENSEMBL:ENSP00000375685.1", "ENSEMBL:ENSP00000471966", "ENSEMBL:ENSP00000471966.1", "UMLS:C1438542", "MESH:C400147"], "information_content": 95.4}
{"id": "UniProtKB:Q9NPH2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol-3-phosphate synthase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPH2-1", "PR:Q9NPH2-1", "ENSEMBL:ENSP00000337746", "ENSEMBL:ENSP00000337746.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9HB75-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "p53-induced death domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HB75-1", "PR:Q9HB75-1", "ENSEMBL:ENSP00000337797", "ENSEMBL:ENSP00000337797.5"], "information_content": 100.0}
{"id": "NCBIGene:200162", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPAG17", "equivalent_identifiers": ["NCBIGene:200162", "ENSEMBL:ENSG00000155761", "HGNC:26620", "OMIM:616554", "UMLS:C1823083", "UniProtKB:Q6Q759", "PR:Q6Q759", "ENSEMBL:ENSP00000337804", "ENSEMBL:ENSP00000337804.5", "UMLS:C5197490", "MESH:C000632546"], "information_content": 95.4}
{"id": "NCBIGene:64386", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP25", "equivalent_identifiers": ["NCBIGene:64386", "ENSEMBL:ENSG00000008516", "HGNC:14246", "OMIM:608482", "UMLS:C1422507", "UniProtKB:Q9NPA2", "PR:Q9NPA2", "ENSEMBL:ENSP00000337816", "ENSEMBL:ENSP00000337816.4", "ENSEMBL:ENSP00000520889", "ENSEMBL:ENSP00000520889.1", "UMLS:C1675324"], "information_content": 95.4}
{"id": "UniProtKB:Q9NQC3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reticulon-4 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9NQC3-1", "PR:Q9NQC3-1", "ENSEMBL:ENSP00000337838", "ENSEMBL:ENSP00000337838.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y664-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KICSTOR complex protein kaptin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y664-1", "PR:Q9Y664-1", "ENSEMBL:ENSP00000337850", "ENSEMBL:ENSP00000337850.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8WVB3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hexosaminidase D isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVB3-2", "PR:Q8WVB3-2", "ENSEMBL:ENSP00000337854", "ENSEMBL:ENSP00000337854.6"], "information_content": 100.0}
{"id": "NCBIGene:5017", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OVOL1", "equivalent_identifiers": ["NCBIGene:5017", "ENSEMBL:ENSG00000172818", "HGNC:8525", "OMIM:602313", "UMLS:C1418205", "UniProtKB:G3V1B0", "ENSEMBL:ENSP00000434220", "ENSEMBL:ENSP00000434220.1", "UniProtKB:O14753", "PR:O14753", "ENSEMBL:ENSP00000337862", "ENSEMBL:ENSP00000337862.3", "UMLS:C1505322", "MESH:C490319"], "information_content": 95.4}
{"id": "MONDO:0013460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 12", "equivalent_identifiers": ["MONDO:0013460", "DOID:0110348", "OMIM:613849", "UMLS:C3151433", "medgen:462783"], "information_content": 100.0}
{"id": "NCBIGene:10608", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MXD4", "equivalent_identifiers": ["NCBIGene:10608", "ENSEMBL:ENSG00000123933", "HGNC:13906", "OMIM:620016", "UMLS:C1422260", "UniProtKB:Q14582", "PR:Q14582", "ENSEMBL:ENSP00000337889", "ENSEMBL:ENSP00000337889.2", "UMLS:C1435973", "MESH:C484347"], "information_content": 100.0}
{"id": "UniProtKB:Q96M98-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "parkin coregulated gene protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96M98-1", "PR:Q96M98-1", "ENSEMBL:ENSP00000337946", "ENSEMBL:ENSP00000337946.3"], "information_content": 100.0}
{"id": "UniProtKB:P34969-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-hydroxytryptamine receptor 7 isoform D (human)", "equivalent_identifiers": ["UniProtKB:P34969-1", "PR:P34969-1", "ENSEMBL:ENSP00000337949", "ENSEMBL:ENSP00000337949.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WTR4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycerophosphodiester phosphodiesterase domain-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WTR4-1", "PR:Q8WTR4-1", "ENSEMBL:ENSP00000337972", "ENSEMBL:ENSP00000337972.3", "ENSEMBL:ENSP00000433214", "ENSEMBL:ENSP00000433214.1"], "information_content": 100.0}
{"id": "UniProtKB:O43463-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase SUV39H1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O43463-2", "PR:O43463-2", "ENSEMBL:ENSP00000337976", "ENSEMBL:ENSP00000337976.6"], "information_content": 100.0}
{"id": "NCBIGene:50615", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL21R", "equivalent_identifiers": ["NCBIGene:50615", "ENSEMBL:ENSG00000103522", "HGNC:6006", "OMIM:605383", "UMLS:C1416407", "UniProtKB:Q9HBE5", "PR:Q9HBE5", "ENSEMBL:ENSP00000338010", "ENSEMBL:ENSP00000338010.3", "ENSEMBL:ENSP00000379103", "ENSEMBL:ENSP00000379103.4", "ENSEMBL:ENSP00000456707", "ENSEMBL:ENSP00000456707.1", "UMLS:C1431958", "MESH:C508117"], "information_content": 86.3}
{"id": "UniProtKB:Q5T5S1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 183 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T5S1-1", "PR:Q5T5S1-1", "ENSEMBL:ENSP00000338013", "ENSEMBL:ENSP00000338013.6"], "information_content": 100.0}
{"id": "UniProtKB:P25686-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily B member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P25686-3", "PR:P25686-3", "ENSEMBL:ENSP00000338019", "ENSEMBL:ENSP00000338019.5"], "information_content": 100.0}
{"id": "NCBIGene:56910", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STARD7", "equivalent_identifiers": ["NCBIGene:56910", "ENSEMBL:ENSG00000084090", "HGNC:18063", "OMIM:616712", "UMLS:C1425274", "UniProtKB:Q9NQZ5", "PR:Q9NQZ5", "ENSEMBL:ENSP00000338030", "ENSEMBL:ENSP00000338030.5", "UMLS:C1436982", "MESH:C483475"], "information_content": 90.9}
{"id": "NCBIGene:9491", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMF1", "equivalent_identifiers": ["NCBIGene:9491", "ENSEMBL:ENSG00000125818", "HGNC:9571", "OMIM:617858", "UMLS:C1419044", "UniProtKB:A0A140VJT2", "UMLS:C0909333", "MESH:C121623", "UniProtKB:B4DXW9", "UniProtKB:Q5QPM7", "ENSEMBL:ENSP00000246015", "ENSEMBL:ENSP00000246015.4", "ENSEMBL:ENSP00000499011", "ENSEMBL:ENSP00000499011.1", "UniProtKB:Q92530", "PR:Q92530", "ENSEMBL:ENSP00000327704", "ENSEMBL:ENSP00000327704.3", "ENSEMBL:ENSP00000338039", "ENSEMBL:ENSP00000338039.6"], "information_content": 86.3}
{"id": "NCBIGene:3048", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HBG2", "equivalent_identifiers": ["NCBIGene:3048", "ENSEMBL:ENSG00000196565", "HGNC:4832", "OMIM:142250", "UMLS:C1415486", "UniProtKB:D9YZU9", "UniProtKB:P69892", "PR:P69892", "ENSEMBL:ENSP00000338082", "ENSEMBL:ENSP00000338082.4", "UMLS:C2827573"], "information_content": 95.4}
{"id": "UniProtKB:A2RTX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "threonine--tRNA ligase 2, cytoplasmic isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2RTX5-1", "PR:A2RTX5-1", "ENSEMBL:ENSP00000338093", "ENSEMBL:ENSP00000338093.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13241-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "killer cell lectin-like receptor subfamily D member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13241-1", "PR:Q13241-1", "ENSEMBL:ENSP00000338130", "ENSEMBL:ENSP00000338130.4", "ENSEMBL:ENSP00000371333", "ENSEMBL:ENSP00000371333.4"], "information_content": 100.0}
{"id": "MONDO:0004234", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic lymphoproliferative disorder of NK-cells", "equivalent_identifiers": ["MONDO:0004234", "DOID:7465", "orphanet:512017", "UMLS:C1512709", "NCIT:C39591", "SNOMEDCT:722955006", "medgen:268922", "icd11.foundation:921755282"], "information_content": 100.0}
{"id": "UniProtKB:Q05516-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and BTB domain-containing protein 16 isoform PLZFB (human)", "equivalent_identifiers": ["UniProtKB:Q05516-1", "PR:Q05516-1", "ENSEMBL:ENSP00000338157", "ENSEMBL:ENSP00000338157.4", "ENSEMBL:ENSP00000376721", "ENSEMBL:ENSP00000376721.2", "ENSEMBL:ENSP00000506794", "ENSEMBL:ENSP00000506794.1", "ENSEMBL:ENSP00000506894", "ENSEMBL:ENSP00000506894.1", "ENSEMBL:ENSP00000506924", "ENSEMBL:ENSP00000506924.1", "ENSEMBL:ENSP00000506953", "ENSEMBL:ENSP00000506953.1", "ENSEMBL:ENSP00000507788", "ENSEMBL:ENSP00000507788.1", "ENSEMBL:ENSP00000508351", "ENSEMBL:ENSP00000508351.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86WV1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Src kinase-associated phosphoprotein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WV1-1", "PR:Q86WV1-1", "ENSEMBL:ENSP00000338171", "ENSEMBL:ENSP00000338171.6", "ENSEMBL:ENSP00000464311", "ENSEMBL:ENSP00000464311.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TB72-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pumilio homolog 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8TB72-3", "PR:Q8TB72-3", "ENSEMBL:ENSP00000338173", "ENSEMBL:ENSP00000338173.5", "ENSEMBL:ENSP00000354370", "ENSEMBL:ENSP00000354370.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ66-1", "PR:Q9NQ66-1", "ENSEMBL:ENSP00000338185", "ENSEMBL:ENSP00000338185.6"], "information_content": 100.0}
{"id": "UniProtKB:O75530-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polycomb protein EED isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75530-2", "PR:O75530-2", "ENSEMBL:ENSP00000338186", "ENSEMBL:ENSP00000338186.5"], "information_content": 100.0}
{"id": "UniProtKB:Q13425-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-2-syntrophin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13425-1", "PR:Q13425-1", "ENSEMBL:ENSP00000338191", "ENSEMBL:ENSP00000338191.4"], "information_content": 100.0}
{"id": "UniProtKB:P25800-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rhombotin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P25800-1", "PR:P25800-1", "ENSEMBL:ENSP00000338207", "ENSEMBL:ENSP00000338207.3"], "information_content": 100.0}
{"id": "NCBIGene:55205", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF532", "equivalent_identifiers": ["NCBIGene:55205", "ENSEMBL:ENSG00000074657", "HGNC:30940", "OMIM:619066", "UMLS:C1429015", "UniProtKB:B3KXW2", "UMLS:C5391810", "MESH:C000707750", "UniProtKB:Q9HCE3", "PR:Q9HCE3", "ENSEMBL:ENSP00000338217", "ENSEMBL:ENSP00000338217.4", "ENSEMBL:ENSP00000465709", "ENSEMBL:ENSP00000465709.1", "ENSEMBL:ENSP00000466007", "ENSEMBL:ENSP00000466007.1", "ENSEMBL:ENSP00000468238", "ENSEMBL:ENSP00000468238.1", "ENSEMBL:ENSP00000468532", "ENSEMBL:ENSP00000468532.1", "UMLS:C5238418"], "information_content": 100.0}
{"id": "NCBIGene:92140", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTDH", "equivalent_identifiers": ["NCBIGene:92140", "ENSEMBL:ENSG00000147649", "HGNC:29608", "OMIM:610323", "UMLS:C1826315", "UniProtKB:Q86UE4", "PR:Q86UE4", "ENSEMBL:ENSP00000338235", "ENSEMBL:ENSP00000338235.3", "UMLS:C1436354", "UMLS:C2985241", "MESH:C483039"], "information_content": 95.4}
{"id": "UniProtKB:Q9H3Q1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Cdc42 effector protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3Q1-1", "PR:Q9H3Q1-1", "ENSEMBL:ENSP00000338258", "ENSEMBL:ENSP00000338258.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BPW4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apolipoprotein L4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BPW4-1", "PR:Q9BPW4-1", "ENSEMBL:ENSP00000338260", "ENSEMBL:ENSP00000338260.3"], "information_content": 100.0}
{"id": "MONDO:0012138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy type B6", "equivalent_identifiers": ["MONDO:0012138", "DOID:0110637", "OMIM:608840", "UMLS:C1837229", "MESH:C563844", "medgen:373284"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5J3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hairy/enhancer-of-split related with YRPW motif protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5J3-2", "PR:Q9Y5J3-2", "ENSEMBL:ENSP00000338272", "ENSEMBL:ENSP00000338272.5"], "information_content": 100.0}
{"id": "UniProtKB:P54107-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine-rich secretory protein 1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P54107-1", "PR:P54107-1", "ENSEMBL:ENSP00000338276", "ENSEMBL:ENSP00000338276.4", "ENSEMBL:ENSP00000427589", "ENSEMBL:ENSP00000427589.1"], "information_content": 100.0}
{"id": "MONDO:0013973", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 5, hair/nail type", "equivalent_identifiers": ["MONDO:0013973", "DOID:0111657", "OMIM:614927", "UMLS:C3554108", "medgen:767022"], "information_content": 100.0}
{"id": "MONDO:0013974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 6, hair/nail type", "equivalent_identifiers": ["MONDO:0013974", "DOID:0111659", "OMIM:614928", "UMLS:C3554111", "medgen:767025"], "information_content": 100.0}
{"id": "MONDO:0013975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 7, hair/nail type", "equivalent_identifiers": ["MONDO:0013975", "DOID:0111660", "OMIM:614929", "UMLS:C3554117", "medgen:767031"], "information_content": 100.0}
{"id": "NCBIGene:4862", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPAS2", "equivalent_identifiers": ["NCBIGene:4862", "ENSEMBL:ENSG00000170485", "HGNC:7895", "OMIM:603347", "UMLS:C1417774", "UniProtKB:A2I2P5", "UMLS:C1447522", "MESH:C104264", "UniProtKB:Q99743", "PR:Q99743", "ENSEMBL:ENSP00000338283", "ENSEMBL:ENSP00000338283.5"], "information_content": 95.4}
{"id": "UniProtKB:Q9H116-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GDNF-inducible zinc finger protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H116-1", "PR:Q9H116-1", "ENSEMBL:ENSP00000338290", "ENSEMBL:ENSP00000338290.5", "ENSEMBL:ENSP00000366250", "ENSEMBL:ENSP00000366250.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6TCH4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane progestin receptor delta isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6TCH4-2", "PR:Q6TCH4-2", "ENSEMBL:ENSP00000338330", "ENSEMBL:ENSP00000338330.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92629-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "delta-sarcoglycan isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92629-2", "PR:Q92629-2", "ENSEMBL:ENSP00000338343", "ENSEMBL:ENSP00000338343.4"], "information_content": 100.0}
{"id": "UniProtKB:P60604-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 G2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P60604-1", "PR:P60604-1", "ENSEMBL:ENSP00000338348", "ENSEMBL:ENSP00000338348.3"], "information_content": 100.0}
{"id": "NCBIGene:23436", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CELA3B", "equivalent_identifiers": ["NCBIGene:23436", "ENSEMBL:ENSG00000219073", "HGNC:15945", "OMIM:618694", "UMLS:C1423849", "UniProtKB:P08861", "PR:P08861", "ENSEMBL:ENSP00000338369", "ENSEMBL:ENSP00000338369.6", "UMLS:C4506355", "MESH:C000617122"], "information_content": 78.5}
{"id": "UniProtKB:Q9NZE8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein bL35m isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZE8-1", "PR:Q9NZE8-1", "ENSEMBL:ENSP00000338389", "ENSEMBL:ENSP00000338389.4"], "information_content": 100.0}
{"id": "UniProtKB:P22314-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-like modifier-activating enzyme 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P22314-1", "PR:P22314-1", "ENSEMBL:ENSP00000338413", "ENSEMBL:ENSP00000338413.6", "ENSEMBL:ENSP00000366568", "ENSEMBL:ENSP00000366568.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQ53-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ53-3", "PR:Q9UQ53-3", "ENSEMBL:ENSP00000338487", "ENSEMBL:ENSP00000338487.5", "ENSEMBL:ENSP00000491766", "ENSEMBL:ENSP00000491766.1"], "information_content": 100.0}
{"id": "NCBIGene:23287", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGTPBP1", "equivalent_identifiers": ["NCBIGene:23287", "ENSEMBL:ENSG00000135049", "HGNC:17258", "OMIM:606830", "UMLS:C1424854", "UniProtKB:J3KNS1", "ENSEMBL:ENSP00000338512", "ENSEMBL:ENSP00000338512.5", "UMLS:C3711286", "MESH:C583027", "UniProtKB:Q9UPW5", "PR:Q9UPW5"]}
{"id": "UniProtKB:Q14153-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM53B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14153-1", "PR:Q14153-1", "ENSEMBL:ENSP00000338532", "ENSEMBL:ENSP00000338532.3", "ENSEMBL:ENSP00000376509", "ENSEMBL:ENSP00000376509.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13277-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13277-1", "PR:Q13277-1", "ENSEMBL:ENSP00000338562", "ENSEMBL:ENSP00000338562.4"], "information_content": 100.0}
{"id": "NCBIGene:7988", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF212", "equivalent_identifiers": ["NCBIGene:7988", "ENSEMBL:ENSG00000170260", "HGNC:13004", "OMIM:602386", "UMLS:C1421700", "UniProtKB:A0A090N8N3", "UMLS:C0539852", "MESH:C106386", "UniProtKB:B3KQE6", "UniProtKB:Q9UDV6", "PR:Q9UDV6", "ENSEMBL:ENSP00000338572", "ENSEMBL:ENSP00000338572.2"], "information_content": 100.0}
{"id": "MONDO:0012723", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 10", "equivalent_identifiers": ["MONDO:0012723", "DOID:0110291", "OMIM:611755", "UMLS:C1857821", "MESH:C565720", "medgen:346672"], "information_content": 100.0}
{"id": "NCBIGene:51337", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THEM6", "equivalent_identifiers": ["NCBIGene:51337", "ENSEMBL:ENSG00000130193", "HGNC:29656", "UMLS:C3469991", "UniProtKB:B4DWJ7", "UniProtKB:Q8WUY1", "PR:Q8WUY1", "ENSEMBL:ENSP00000338607", "ENSEMBL:ENSP00000338607.3"], "information_content": 100.0}
{"id": "MONDO:0011926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psoriasis 9", "equivalent_identifiers": ["MONDO:0011926", "DOID:0111284", "OMIM:607857", "UMLS:C1842897", "medgen:334635"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXF5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-crystallin N isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXF5-1", "PR:Q8WXF5-1", "ENSEMBL:ENSP00000338613", "ENSEMBL:ENSP00000338613.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6P5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "threonine aspartase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6P5-1", "PR:Q9H6P5-1", "ENSEMBL:ENSP00000338624", "ENSEMBL:ENSP00000338624.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZN6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZN6-1", "PR:Q9GZN6-1", "ENSEMBL:ENSP00000338627", "ENSEMBL:ENSP00000338627.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2R6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arginine-glutamic acid dipeptide repeats protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2R6-1", "PR:Q9P2R6-1", "ENSEMBL:ENSP00000338629", "ENSEMBL:ENSP00000338629.3", "ENSEMBL:ENSP00000383700", "ENSEMBL:ENSP00000383700.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96JQ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-spanning 4-domains subfamily A member 4A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JQ5-1", "PR:Q96JQ5-1", "ENSEMBL:ENSP00000338648", "ENSEMBL:ENSP00000338648.4"], "information_content": 100.0}
{"id": "NCBIGene:9886", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHOBTB1", "equivalent_identifiers": ["NCBIGene:9886", "ENSEMBL:ENSG00000072422", "HGNC:18738", "OMIM:607351", "UMLS:C1425748", "UniProtKB:O94844", "PR:O94844", "ENSEMBL:ENSP00000338671", "ENSEMBL:ENSP00000338671.5", "ENSEMBL:ENSP00000350595", "ENSEMBL:ENSP00000350595.4"], "information_content": 95.4}
{"id": "UniProtKB:Q15131-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15131-1", "PR:Q15131-1", "ENSEMBL:ENSP00000338673", "ENSEMBL:ENSP00000338673.7"], "information_content": 100.0}
{"id": "UniProtKB:Q16851-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UTP--glucose-1-phosphate uridylyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16851-1", "PR:Q16851-1", "ENSEMBL:ENSP00000338703", "ENSEMBL:ENSP00000338703.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y608-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat flightless-interacting protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y608-1", "PR:Q9Y608-1", "ENSEMBL:ENSP00000338727", "ENSEMBL:ENSP00000338727.4"], "information_content": 100.0}
{"id": "UniProtKB:Q3V6T2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "girdin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q3V6T2-3", "PR:Q3V6T2-3", "ENSEMBL:ENSP00000338728", "ENSEMBL:ENSP00000338728.6"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z494-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nephrocystin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z494-1", "PR:Q7Z494-1", "ENSEMBL:ENSP00000338766", "ENSEMBL:ENSP00000338766.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDY4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDY4-1", "PR:Q8TDY4-1", "ENSEMBL:ENSP00000338769", "ENSEMBL:ENSP00000338769.3", "ENSEMBL:ENSP00000488946", "ENSEMBL:ENSP00000488946.1"], "information_content": 100.0}
{"id": "UniProtKB:P59780-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-3 complex subunit sigma-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P59780-1", "PR:P59780-1", "ENSEMBL:ENSP00000338777", "ENSEMBL:ENSP00000338777.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZS9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carbohydrate sulfotransferase 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZS9-1", "PR:Q9GZS9-1", "ENSEMBL:ENSP00000338783", "ENSEMBL:ENSP00000338783.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3M8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "StAR-related lipid transfer protein 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3M8-1", "PR:Q9Y3M8-1", "ENSEMBL:ENSP00000338785", "ENSEMBL:ENSP00000338785.4"], "information_content": 100.0}
{"id": "UniProtKB:Q16385-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SSX2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16385-2", "PR:Q16385-2", "ENSEMBL:ENSP00000338796", "ENSEMBL:ENSP00000338796.5", "ENSEMBL:ENSP00000477922", "ENSEMBL:ENSP00000477922.1"], "information_content": 100.0}
{"id": "UniProtKB:O94916-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor of activated T-cells 5 isoform E (human)", "equivalent_identifiers": ["UniProtKB:O94916-5", "PR:O94916-5", "ENSEMBL:ENSP00000338806", "ENSEMBL:ENSP00000338806.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXI9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complement C1q tumor necrosis factor-related protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXI9-2", "PR:Q9BXI9-2", "ENSEMBL:ENSP00000338812", "ENSEMBL:ENSP00000338812.2", "ENSEMBL:ENSP00000380299", "ENSEMBL:ENSP00000380299.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UL15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BAG family molecular chaperone regulator 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UL15-1", "PR:Q9UL15-1", "ENSEMBL:ENSP00000299204", "ENSEMBL:ENSP00000299204.4", "ENSEMBL:ENSP00000338814", "ENSEMBL:ENSP00000338814.5", "ENSEMBL:ENSP00000391713", "ENSEMBL:ENSP00000391713.2"], "information_content": 100.0}
{"id": "NCBIGene:10483", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEC23B", "equivalent_identifiers": ["NCBIGene:10483", "ENSEMBL:ENSG00000101310", "HGNC:10702", "OMIM:610512", "UMLS:C1419926", "UniProtKB:A0A2R8YFH5", "ENSEMBL:ENSP00000496460", "ENSEMBL:ENSP00000496460.1", "UniProtKB:Q15437", "PR:Q15437", "ENSEMBL:ENSP00000262544", "ENSEMBL:ENSP00000262544.2", "ENSEMBL:ENSP00000338844", "ENSEMBL:ENSP00000338844.3", "ENSEMBL:ENSP00000366685", "ENSEMBL:ENSP00000366685.1", "ENSEMBL:ENSP00000497473", "ENSEMBL:ENSP00000497473.1", "UMLS:C2743917", "MESH:C543353"], "information_content": 84.2}
{"id": "MONDO:0011337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hemophagocytic lymphohistiocytosis 2", "equivalent_identifiers": ["MONDO:0011337", "DOID:0110922", "OMIM:603553", "UMLS:C1863727", "MESH:C537250", "NCIT:C203462", "medgen:400366"], "information_content": 92.8}
{"id": "UniProtKB:Q8N0Y2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 444 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N0Y2-1", "PR:Q8N0Y2-1", "ENSEMBL:ENSP00000338860", "ENSEMBL:ENSP00000338860.3"], "information_content": 100.0}
{"id": "MONDO:0005214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulva sarcoma", "equivalent_identifiers": ["MONDO:0005214", "DOID:2096", "EFO:0002920", "UMLS:C0238525", "NCIT:C40317", "SNOMEDCT:254897006", "medgen:65972"], "information_content": 83.1}
{"id": "MONDO:0002422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adamantinoma", "equivalent_identifiers": ["MONDO:0002422", "DOID:2775", "DOID:2776", "OMIM:102660", "orphanet:55881", "UMLS:C0334556", "MESH:C562741", "MESH:D050398", "NCIT:C7644", "SNOMEDCT:307609003", "SNOMEDCT:56763007", "medgen:83163", "icd11.foundation:2013322169", "HP:0034525"], "information_content": 95.4}
{"id": "MONDO:0003945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bone Hemangioma", "equivalent_identifiers": ["MONDO:0003945", "DOID:6610", "EFO:1000132", "UMLS:C1332575", "UMLS:C1332578", "MEDDRA:10072572", "MEDDRA:10072573", "NCIT:C5396", "NCIT:C6477", "SNOMEDCT:685021000119103", "medgen:231951"], "information_content": 92.8}
{"id": "MONDO:0011934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dermatofibrosarcoma protuberans", "equivalent_identifiers": ["MONDO:0011934", "DOID:3507", "OMIM:607907", "orphanet:31112", "UMLS:C0206647", "UMLS:C0392784", "UMLS:C3693482", "MESH:D018223", "MEDDRA:10057043", "MEDDRA:10057070", "NCIT:C4683", "NCIT:C4700", "SNOMEDCT:128742004", "SNOMEDCT:238863004", "SNOMEDCT:276799004", "SNOMEDCT:76594008", "medgen:811326", "icd11.foundation:1579898301"], "information_content": 82.6}
{"id": "UniProtKB:Q7LDG7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RAS guanyl-releasing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7LDG7-1", "PR:Q7LDG7-1", "ENSEMBL:ENSP00000338864", "ENSEMBL:ENSP00000338864.3", "ENSEMBL:ENSP00000366717", "ENSEMBL:ENSP00000366717.3", "ENSEMBL:ENSP00000377953", "ENSEMBL:ENSP00000377953.3"], "information_content": 100.0}
{"id": "UniProtKB:O14523-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid transfer protein C2CD2L isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O14523-2", "PR:O14523-2", "ENSEMBL:ENSP00000338885", "ENSEMBL:ENSP00000338885.3"], "information_content": 100.0}
{"id": "NCBIGene:55144", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC8D", "equivalent_identifiers": ["NCBIGene:55144", "ENSEMBL:ENSG00000171492", "HGNC:16992", "OMIM:612890", "UMLS:C1825879", "UniProtKB:B3KRU1", "UniProtKB:Q7L1W4", "PR:Q7L1W4", "ENSEMBL:ENSP00000338887", "ENSEMBL:ENSP00000338887.5", "ENSEMBL:ENSP00000378093", "ENSEMBL:ENSP00000378093.3", "UniProtKB:Q96GG5"], "information_content": 88.2}
{"id": "UniProtKB:Q96PM9-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 385A isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:Q96PM9-4", "PR:Q96PM9-4", "ENSEMBL:ENSP00000338927", "ENSEMBL:ENSP00000338927.5"], "information_content": 100.0}
{"id": "NCBIGene:7430", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EZR", "equivalent_identifiers": ["NCBIGene:7430", "ENSEMBL:ENSG00000092820", "HGNC:12691", "OMIM:123900", "UMLS:C1421450", "UniProtKB:P15311", "PR:P15311", "ENSEMBL:ENSP00000338934", "ENSEMBL:ENSP00000338934.7", "ENSEMBL:ENSP00000356042", "ENSEMBL:ENSP00000356042.3", "UMLS:C1701977"], "information_content": 83.6}
{"id": "UniProtKB:Q9UJ14-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione hydrolase 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJ14-1", "PR:Q9UJ14-1", "ENSEMBL:ENSP00000338964", "ENSEMBL:ENSP00000338964.5"], "information_content": 100.0}
{"id": "UniProtKB:O43182-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O43182-1", "PR:O43182-1", "ENSEMBL:ENSP00000338967", "ENSEMBL:ENSP00000338967.4"], "information_content": 100.0}
{"id": "NCBIGene:60673", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATG101", "equivalent_identifiers": ["NCBIGene:60673", "ENSEMBL:ENSG00000123395", "HGNC:25679", "OMIM:615089", "UMLS:C1824365", "UniProtKB:Q9BSB4", "PR:Q9BSB4", "ENSEMBL:ENSP00000338990", "ENSEMBL:ENSP00000338990.4", "UMLS:C2742585", "MESH:C543518"], "information_content": 92.8}
{"id": "NCBIGene:203068", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBB", "equivalent_identifiers": ["NCBIGene:203068", "ENSEMBL:ENSG00000196230", "HGNC:20778", "OMIM:191130", "UMLS:C1421231", "UniProtKB:B4DMJ5", "UniProtKB:B4DQN9", "UniProtKB:B4DY90", "UniProtKB:P07437", "PR:P07437", "ENSEMBL:ENSP00000339001", "ENSEMBL:ENSP00000339001.7", "ENSEMBL:ENSP00000373058", "ENSEMBL:ENSP00000373058.4", "ENSEMBL:ENSP00000399155", "ENSEMBL:ENSP00000399155.2", "ENSEMBL:ENSP00000400663", "ENSEMBL:ENSP00000400663.2", "ENSEMBL:ENSP00000401317", "ENSEMBL:ENSP00000401317.2", "ENSEMBL:ENSP00000406811", "ENSEMBL:ENSP00000406811.2", "ENSEMBL:ENSP00000410071", "ENSEMBL:ENSP00000410071.2", "ENSEMBL:ENSP00000410829", "ENSEMBL:ENSP00000410829.2", "UMLS:C3539817", "UniProtKB:Q5ST81", "ENSEMBL:ENSP00000365578", "ENSEMBL:ENSP00000365578.2", "ENSEMBL:ENSP00000379668", "ENSEMBL:ENSP00000379668.1", "ENSEMBL:ENSP00000383374", "ENSEMBL:ENSP00000383374.1", "ENSEMBL:ENSP00000383375", "ENSEMBL:ENSP00000383375.1", "ENSEMBL:ENSP00000391515", "ENSEMBL:ENSP00000391515.1", "ENSEMBL:ENSP00000392914", "ENSEMBL:ENSP00000392914.1", "ENSEMBL:ENSP00000393340", "ENSEMBL:ENSP00000393340.1", "ENSEMBL:ENSP00000394124", "ENSEMBL:ENSP00000394124.1", "ENSEMBL:ENSP00000394841", "ENSEMBL:ENSP00000394841.1", "ENSEMBL:ENSP00000395838", "ENSEMBL:ENSP00000395838.1", "ENSEMBL:ENSP00000399046", "ENSEMBL:ENSP00000399046.1", "ENSEMBL:ENSP00000403213", "ENSEMBL:ENSP00000403213.1", "ENSEMBL:ENSP00000406981", "ENSEMBL:ENSP00000406981.1", "ENSEMBL:ENSP00000407673", "ENSEMBL:ENSP00000407673.1", "ENSEMBL:ENSP00000414479", "ENSEMBL:ENSP00000414479.1", "ENSEMBL:ENSP00000416480", "ENSEMBL:ENSP00000416480.1", "ENSEMBL:ENSP00000506665", "ENSEMBL:ENSP00000506665.1", "UniProtKB:Q5SU16"], "information_content": 84.2}
{"id": "NCBIGene:2290", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXG1", "equivalent_identifiers": ["NCBIGene:2290", "ENSEMBL:ENSG00000176165", "HGNC:3811", "OMIM:164874", "UMLS:C0812297", "UniProtKB:P55316", "PR:P55316", "ENSEMBL:ENSP00000339004", "ENSEMBL:ENSP00000339004.3", "ENSEMBL:ENSP00000516406", "ENSEMBL:ENSP00000516406.1", "UMLS:C0290266", "MESH:C090173"], "information_content": 95.4}
{"id": "UniProtKB:Q8NBU5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "outer mitochondrial transmembrane helix translocase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBU5-1", "PR:Q8NBU5-1", "ENSEMBL:ENSP00000339016", "ENSEMBL:ENSP00000339016.2", "ENSEMBL:ENSP00000339017", "ENSEMBL:ENSP00000339017.4", "ENSEMBL:ENSP00000506333", "ENSEMBL:ENSP00000506333.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96JP5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase ZFP91 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JP5-1", "PR:Q96JP5-1", "ENSEMBL:ENSP00000339030", "ENSEMBL:ENSP00000339030.5"], "information_content": 100.0}
{"id": "NCBIGene:1915", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EEF1A1", "equivalent_identifiers": ["NCBIGene:1915", "ENSEMBL:ENSG00000156508", "HGNC:3189", "OMIM:130590", "UMLS:C1414270", "UniProtKB:P68104", "PR:P68104", "ENSEMBL:ENSP00000330054", "ENSEMBL:ENSP00000330054.2", "ENSEMBL:ENSP00000339053", "ENSEMBL:ENSP00000339053.4", "ENSEMBL:ENSP00000339063", "ENSEMBL:ENSP00000339063.7", "ENSEMBL:ENSP00000348651", "ENSEMBL:ENSP00000348651.3", "ENSEMBL:ENSP00000392366", "ENSEMBL:ENSP00000392366.2", "ENSEMBL:ENSP00000479055", "ENSEMBL:ENSP00000479055.2", "ENSEMBL:ENSP00000503192", "ENSEMBL:ENSP00000503192.1", "ENSEMBL:ENSP00000503249", "ENSEMBL:ENSP00000503249.1", "ENSEMBL:ENSP00000503823", "ENSEMBL:ENSP00000503823.1", "ENSEMBL:ENSP00000504335", "ENSEMBL:ENSP00000504335.1", "UMLS:C0300140", "MESH:C094814", "UniProtKB:Q6IPS9"], "information_content": 82.1}
{"id": "NCBIGene:51634", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBMX2", "equivalent_identifiers": ["NCBIGene:51634", "ENSEMBL:ENSG00000134597", "HGNC:24282", "UMLS:C1538796", "UniProtKB:Q9Y388", "PR:Q9Y388", "ENSEMBL:ENSP00000339090", "ENSEMBL:ENSP00000339090.4"], "information_content": 92.8}
{"id": "MONDO:0010432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia, X-linked, due to factor 9 defect", "equivalent_identifiers": ["MONDO:0010432", "DOID:0111899", "OMIM:300807", "UMLS:C2749016", "UMLS:C3275410", "MESH:C567581", "medgen:411730"], "information_content": 100.0}
{"id": "MONDO:0008871", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephalic osteodysplastic primordial dwarfism type I", "equivalent_identifiers": ["MONDO:0008871", "DOID:0060608", "OMIM:210710", "UMLS:C1859452", "MESH:C537577", "SNOMEDCT:254102008", "medgen:347149"], "information_content": 100.0}
{"id": "NCBIGene:64682", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANAPC1", "equivalent_identifiers": ["NCBIGene:64682", "ENSEMBL:ENSG00000153107", "HGNC:19988", "OMIM:608473", "UMLS:C1426585", "UniProtKB:Q9H1A4", "PR:Q9H1A4", "ENSEMBL:ENSP00000339109", "ENSEMBL:ENSP00000339109.3", "UMLS:C3711818", "MESH:C577335"], "information_content": 84.2}
{"id": "UniProtKB:Q6ZVH7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "espin-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZVH7-1", "PR:Q6ZVH7-1", "ENSEMBL:ENSP00000339115", "ENSEMBL:ENSP00000339115.3"], "information_content": 100.0}
{"id": "NCBIGene:3266", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERAS", "equivalent_identifiers": ["NCBIGene:3266", "ENSEMBL:ENSG00000187682", "HGNC:5174", "OMIM:300437", "UMLS:C1415714", "UniProtKB:Q7Z444", "PR:Q7Z444", "ENSEMBL:ENSP00000339136", "ENSEMBL:ENSP00000339136.1", "ENSEMBL:ENSP00000490793", "ENSEMBL:ENSP00000490793.1"], "information_content": 100.0}
{"id": "MONDO:0010908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Acrodynia", "equivalent_identifiers": ["MONDO:0010908", "DOID:0111702", "OMIM:600628", "orphanet:168", "EFO:1001756", "UMLS:C0406468", "MESH:D058247", "MEDDRA:10085066", "SNOMEDCT:238735005", "medgen:98351", "icd11.foundation:547259783"], "information_content": 90.9}
{"id": "MONDO:0019392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syringocystadenoma papilliferum", "equivalent_identifiers": ["MONDO:0019392", "DOID:5445", "orphanet:840", "EFO:1000558", "UMLS:C0406803", "MEDDRA:10042926", "NCIT:C4172", "SNOMEDCT:239121009", "SNOMEDCT:8934006", "medgen:98362", "icd11.foundation:530424877"], "information_content": 95.4}
{"id": "UniProtKB:Q14684-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal RNA processing protein 1 homolog B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14684-1", "PR:Q14684-1", "ENSEMBL:ENSP00000339145", "ENSEMBL:ENSP00000339145.4"], "information_content": 100.0}
{"id": "NCBIGene:1368", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPM", "equivalent_identifiers": ["NCBIGene:1368", "ENSEMBL:ENSG00000135678", "HGNC:2311", "OMIM:114860", "UMLS:C1413672", "UniProtKB:P14384", "PR:P14384", "ENSEMBL:ENSP00000339157", "ENSEMBL:ENSP00000339157.3", "ENSEMBL:ENSP00000447255", "ENSEMBL:ENSP00000447255.1", "ENSEMBL:ENSP00000448517", "ENSEMBL:ENSP00000448517.1", "UMLS:C2930480"], "information_content": 86.3}
{"id": "UniProtKB:Q6SA08-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis-specific serine/threonine-protein kinase 4 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q6SA08-2", "PR:Q6SA08-2", "ENSEMBL:ENSP00000339179", "ENSEMBL:ENSP00000339179.5", "ENSEMBL:ENSP00000496710", "ENSEMBL:ENSP00000496710.1"], "information_content": 100.0}
{"id": "UniProtKB:Q4VNC1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable cation-transporting ATPase 13A4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4VNC1-1", "PR:Q4VNC1-1", "ENSEMBL:ENSP00000339182", "ENSEMBL:ENSP00000339182.4"], "information_content": 100.0}
{"id": "UniProtKB:O75791-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GRB2-related adapter protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75791-1", "PR:O75791-1", "ENSEMBL:ENSP00000339186", "ENSEMBL:ENSP00000339186.4", "ENSEMBL:ENSP00000385607", "ENSEMBL:ENSP00000385607.3"], "information_content": 100.0}
{"id": "UniProtKB:Q03135-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caveolin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q03135-1", "PR:Q03135-1", "ENSEMBL:ENSP00000339191", "ENSEMBL:ENSP00000339191.2"], "information_content": 95.4}
{"id": "UniProtKB:Q6V1X1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dipeptidyl peptidase 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6V1X1-1", "PR:Q6V1X1-1", "ENSEMBL:ENSP00000339208", "ENSEMBL:ENSP00000339208.5", "ENSEMBL:ENSP00000453954", "ENSEMBL:ENSP00000453954.1"], "information_content": 100.0}
{"id": "NCBIGene:359787", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPPA3", "equivalent_identifiers": ["NCBIGene:359787", "ENSEMBL:ENSG00000187569", "HGNC:19199", "OMIM:608408", "UMLS:C1426084", "UniProtKB:Q6W0C5", "PR:Q6W0C5", "ENSEMBL:ENSP00000339250", "ENSEMBL:ENSP00000339250.2", "UMLS:C1143866", "MESH:C466105"], "information_content": 100.0}
{"id": "UniProtKB:P60985-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratinocyte differentiation-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P60985-1", "PR:P60985-1", "ENSEMBL:ENSP00000339251", "ENSEMBL:ENSP00000339251.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSD5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium- and chloride-dependent GABA transporter 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSD5-1", "PR:Q9NSD5-1", "ENSEMBL:ENSP00000339260", "ENSEMBL:ENSP00000339260.4"], "information_content": 100.0}
{"id": "UniProtKB:O75962-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "triple functional domain protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75962-1", "PR:O75962-1", "ENSEMBL:ENSP00000339299", "ENSEMBL:ENSP00000339299.4"], "information_content": 100.0}
{"id": "NCBIGene:7621", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF70", "equivalent_identifiers": ["NCBIGene:7621", "ENSEMBL:ENSG00000187792", "HGNC:13140", "OMIM:194544", "UMLS:C1421824", "UniProtKB:B3KV76", "UniProtKB:Q9UC06", "PR:Q9UC06", "ENSEMBL:ENSP00000339314", "ENSEMBL:ENSP00000339314.3"], "information_content": 100.0}
{"id": "MONDO:0013820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 15", "equivalent_identifiers": ["MONDO:0013820", "DOID:0070045", "OMIM:614608", "UMLS:C3553248", "medgen:766162"], "information_content": 100.0}
{"id": "NCBIGene:643155", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM15", "equivalent_identifiers": ["NCBIGene:643155", "ENSEMBL:ENSG00000188725", "HGNC:33861", "UMLS:C2681228", "UniProtKB:Q7Z3B0", "PR:Q7Z3B0", "ENSEMBL:ENSP00000339324", "ENSEMBL:ENSP00000339324.3", "ENSEMBL:ENSP00000421336", "ENSEMBL:ENSP00000421336.1"], "information_content": 100.0}
{"id": "UniProtKB:Q03405-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "urokinase plasminogen activator surface receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q03405-1", "PR:Q03405-1", "ENSEMBL:ENSP00000339328", "ENSEMBL:ENSP00000339328.3"], "information_content": 100.0}
{"id": "NCBIGene:283219", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCTD21", "equivalent_identifiers": ["NCBIGene:283219", "ENSEMBL:ENSG00000188997", "HGNC:27452", "OMIM:618790", "UMLS:C1825647", "UniProtKB:Q4G0X4", "PR:Q4G0X4", "ENSEMBL:ENSP00000339340", "ENSEMBL:ENSP00000339340.3", "UMLS:C3177455", "MESH:C559191"], "information_content": 100.0}
{"id": "UniProtKB:Q96DT0-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "galectin-12 isoform F (human)", "equivalent_identifiers": ["UniProtKB:Q96DT0-6", "PR:Q96DT0-6", "ENSEMBL:ENSP00000339374", "ENSEMBL:ENSP00000339374.6"], "information_content": 100.0}
{"id": "UniProtKB:O14924-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14924-1", "PR:O14924-1", "ENSEMBL:ENSP00000338509", "ENSEMBL:ENSP00000338509.4", "ENSEMBL:ENSP00000339381", "ENSEMBL:ENSP00000339381.5"], "information_content": 100.0}
{"id": "NCBIGene:139562", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTUD6A", "equivalent_identifiers": ["NCBIGene:139562", "ENSEMBL:ENSG00000189401", "HGNC:32312", "OMIM:300714", "UMLS:C1826522", "UniProtKB:Q7L8S5", "PR:Q7L8S5", "ENSEMBL:ENSP00000339389", "ENSEMBL:ENSP00000339389.2", "UMLS:C5544093", "MESH:C000716889"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXH8-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-like protein 26 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXH8-4", "PR:Q8IXH8-4", "ENSEMBL:ENSP00000339390", "ENSEMBL:ENSP00000339390.4"], "information_content": 100.0}
{"id": "NCBIGene:3117", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLA-DQA1", "equivalent_identifiers": ["NCBIGene:3117", "ENSEMBL:ENSG00000196735", "HGNC:4942", "OMIM:146880", "UMLS:C1415570", "UniProtKB:A0A173ADG5", "UniProtKB:A0A346FLH4", "UniProtKB:A0A649ZVH5", "UniProtKB:L8E864", "UniProtKB:P01909", "PR:P01909", "ENSEMBL:ENSP00000339398", "ENSEMBL:ENSP00000339398.5", "ENSEMBL:ENSP00000364087", "ENSEMBL:ENSP00000364087.2", "ENSEMBL:ENSP00000372738", "ENSEMBL:ENSP00000372738.2", "ENSEMBL:ENSP00000378767", "ENSEMBL:ENSP00000378767.1", "ENSEMBL:ENSP00000382583", "ENSEMBL:ENSP00000382583.1", "ENSEMBL:ENSP00000382586", "ENSEMBL:ENSP00000382586.1", "ENSEMBL:ENSP00000387892", "ENSEMBL:ENSP00000387892.1", "ENSEMBL:ENSP00000413237", "ENSEMBL:ENSP00000413237.2", "UMLS:C3641902", "UniProtKB:Q5Y7C6", "UniProtKB:Q5Y7H0", "ENSEMBL:ENSP00000392580", "ENSEMBL:ENSP00000392580.2", "ENSEMBL:ENSP00000399068", "ENSEMBL:ENSP00000399068.1", "ENSEMBL:ENSP00000404172", "ENSEMBL:ENSP00000404172.1", "ENSEMBL:ENSP00000414360", "ENSEMBL:ENSP00000414360.1", "UniProtKB:Q8MH44"], "information_content": 86.3}
{"id": "UniProtKB:Q8N9N2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "activating signal cointegrator 1 complex subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9N2-1", "PR:Q8N9N2-1", "ENSEMBL:ENSP00000339404", "ENSEMBL:ENSP00000339404.4", "ENSEMBL:ENSP00000378373", "ENSEMBL:ENSP00000378373.3"], "information_content": 100.0}
{"id": "MONDO:0011868", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lethal congenital contracture syndrome 2", "equivalent_identifiers": ["MONDO:0011868", "DOID:0060560", "OMIM:607598", "orphanet:137776", "UMLS:C1843478", "MESH:C564369", "SNOMEDCT:715419004", "medgen:334413"], "information_content": 100.0}
{"id": "NCBIGene:63826", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRR", "equivalent_identifiers": ["NCBIGene:63826", "ENSEMBL:ENSG00000167720", "HGNC:14398", "OMIM:606477", "UMLS:C1422619", "UniProtKB:Q3ZK31", "ENSEMBL:ENSP00000458814", "ENSEMBL:ENSP00000458814.1", "ENSEMBL:ENSP00000461482", "ENSEMBL:ENSP00000461482.1", "UniProtKB:Q9GZT4", "PR:Q9GZT4", "ENSEMBL:ENSP00000339435", "ENSEMBL:ENSP00000339435.5", "UMLS:C1454569"], "information_content": 92.8}
{"id": "UniProtKB:Q8N1V2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 52 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1V2-1", "PR:Q8N1V2-1", "ENSEMBL:ENSP00000339449", "ENSEMBL:ENSP00000339449.5"], "information_content": 100.0}
{"id": "NCBIGene:391", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHOG", "equivalent_identifiers": ["NCBIGene:391", "ENSEMBL:ENSG00000177105", "HGNC:672", "OMIM:179505", "UMLS:C1412519", "UniProtKB:P84095", "PR:P84095", "ENSEMBL:ENSP00000339467", "ENSEMBL:ENSP00000339467.4", "ENSEMBL:ENSP00000380175", "ENSEMBL:ENSP00000380175.1", "ENSEMBL:ENSP00000380176", "ENSEMBL:ENSP00000380176.1", "ENSEMBL:ENSP00000436932", "ENSEMBL:ENSP00000436932.1", "UMLS:C1448711", "MESH:C075397", "UniProtKB:Q6ICQ8"], "information_content": 92.8}
{"id": "UniProtKB:O75144-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ICOS ligand isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75144-2", "PR:O75144-2", "ENSEMBL:ENSP00000339477", "ENSEMBL:ENSP00000339477.4"], "information_content": 100.0}
{"id": "UniProtKB:P49902-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic purine 5'-nucleotidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49902-1", "PR:P49902-1", "ENSEMBL:ENSP00000339479", "ENSEMBL:ENSP00000339479.5", "ENSEMBL:ENSP00000383960", "ENSEMBL:ENSP00000383960.3", "ENSEMBL:ENSP00000501689", "ENSEMBL:ENSP00000501689.1", "ENSEMBL:ENSP00000502205", "ENSEMBL:ENSP00000502205.1", "ENSEMBL:ENSP00000502679", "ENSEMBL:ENSP00000502679.1", "ENSEMBL:ENSP00000502801", "ENSEMBL:ENSP00000502801.1"], "information_content": 100.0}
{"id": "NCBIGene:93550", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFAND4", "equivalent_identifiers": ["NCBIGene:93550", "ENSEMBL:ENSG00000172671", "HGNC:23504", "UMLS:C3470355", "UniProtKB:A8K8Q5", "UMLS:C4077621", "MESH:C000604251", "UniProtKB:J3KPC0", "ENSEMBL:ENSP00000363486", "ENSEMBL:ENSP00000363486.3", "UniProtKB:Q86WR3", "UniProtKB:Q86XD8", "PR:Q86XD8", "ENSEMBL:ENSP00000339484", "ENSEMBL:ENSP00000339484.5"], "information_content": 100.0}
{"id": "MONDO:0010585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked hypohidrotic ectodermal dysplasia", "equivalent_identifiers": ["MONDO:0010585", "DOID:0111664", "OMIM:305100", "orphanet:181", "UMLS:C0162359", "MESH:D053358", "MEDDRA:10072592", "SNOMEDCT:239007005", "medgen:57890", "icd11.foundation:941793098", "HP:0007607"], "information_content": 100.0}
{"id": "UniProtKB:Q8WX92-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "negative elongation factor B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WX92-2", "PR:Q8WX92-2", "ENSEMBL:ENSP00000339495", "ENSEMBL:ENSP00000339495.6"], "information_content": 100.0}
{"id": "NCBIGene:25763", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2AP", "equivalent_identifiers": ["NCBIGene:25763", "ENSEMBL:ENSG00000187516", "HGNC:18417", "UMLS:C1539178", "UniProtKB:O75409", "PR:O75409", "ENSEMBL:ENSP00000339511", "ENSEMBL:ENSP00000339511.3"], "information_content": 100.0}
{"id": "NCBIGene:1677", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DFFB", "equivalent_identifiers": ["NCBIGene:1677", "ENSEMBL:ENSG00000169598", "HGNC:2773", "OMIM:601883", "UMLS:C1413983", "UniProtKB:B4DZS0", "ENSEMBL:ENSP00000339524", "ENSEMBL:ENSP00000339524.4", "UniProtKB:O76075", "PR:O76075", "UMLS:C1504769", "MESH:C113696", "UniProtKB:Q96P72", "ENSEMBL:ENSP00000367448", "ENSEMBL:ENSP00000367448.1", "UniProtKB:Q96P73", "ENSEMBL:ENSP00000463688", "ENSEMBL:ENSP00000463688.1", "ENSEMBL:ENSP00000463704", "ENSEMBL:ENSP00000463704.1", "UniProtKB:Q96P74"]}
{"id": "UniProtKB:O43524-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein O3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43524-1", "PR:O43524-1", "ENSEMBL:ENSP00000339527", "ENSEMBL:ENSP00000339527.6", "ENSEMBL:ENSP00000385824", "ENSEMBL:ENSP00000385824.1"], "information_content": 100.0}
{"id": "NCBIGene:25917", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THUMPD3", "equivalent_identifiers": ["NCBIGene:25917", "ENSEMBL:ENSG00000134077", "HGNC:24493", "UMLS:C1539963", "UniProtKB:Q9BV44", "PR:Q9BV44", "ENSEMBL:ENSP00000339532", "ENSEMBL:ENSP00000339532.3", "ENSEMBL:ENSP00000395893", "ENSEMBL:ENSP00000395893.2", "ENSEMBL:ENSP00000424064", "ENSEMBL:ENSP00000424064.1", "UMLS:C5564691", "MESH:C000720737"], "information_content": 90.9}
{"id": "NCBIGene:3006", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H1-2", "equivalent_identifiers": ["NCBIGene:3006", "ENSEMBL:ENSG00000187837", "HGNC:4716", "OMIM:142710", "UMLS:C1415386", "UniProtKB:P16403", "PR:P16403", "ENSEMBL:ENSP00000339566", "ENSEMBL:ENSP00000339566.3", "ENSEMBL:ENSP00000520720", "ENSEMBL:ENSP00000520720.1", "UMLS:C5196825", "UMLS:C5202679", "MESH:C000630194"], "information_content": 87.2}
{"id": "UniProtKB:Q02161-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "blood group Rh(D) polypeptide isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q02161-4", "PR:Q02161-4", "ENSEMBL:ENSP00000339577", "ENSEMBL:ENSP00000339577.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6P9G9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 449 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P9G9-1", "PR:Q6P9G9-1", "ENSEMBL:ENSP00000339585", "ENSEMBL:ENSP00000339585.4"], "information_content": 100.0}
{"id": "UniProtKB:O60443-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gasdermin-E isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60443-1", "PR:O60443-1", "ENSEMBL:ENSP00000339587", "ENSEMBL:ENSP00000339587.3", "ENSEMBL:ENSP00000494186", "ENSEMBL:ENSP00000494186.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2G5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GDP-fucose protein O-fucosyltransferase 2 isoform C (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2G5-3", "PR:Q9Y2G5-3", "ENSEMBL:ENSP00000339613", "ENSEMBL:ENSP00000339613.5"], "information_content": 100.0}
{"id": "MONDO:0012396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exercise-induced hyperinsulinism", "equivalent_identifiers": ["MONDO:0012396", "DOID:0070214", "OMIM:610021", "orphanet:165991", "UMLS:C1864902", "MESH:C538376", "NCIT:C131839", "SNOMEDCT:715830008", "medgen:351246", "icd11.foundation:999935139"], "information_content": 100.0}
{"id": "NCBIGene:158062", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCN6", "equivalent_identifiers": ["NCBIGene:158062", "ENSEMBL:ENSG00000267206", "HGNC:17337", "OMIM:609379", "UMLS:C1424912", "UniProtKB:A0A024R8I9", "UMLS:C1566389", "MESH:C497171", "UniProtKB:P62502", "PR:P62502", "ENSEMBL:ENSP00000339621", "ENSEMBL:ENSP00000339621.3"], "information_content": 100.0}
{"id": "MONDO:0024358", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complex sleep apnea", "equivalent_identifiers": ["MONDO:0024358", "DOID:0080302", "UMLS:C0338495", "SNOMEDCT:230493001", "medgen:83271"], "information_content": 100.0}
{"id": "UniProtKB:Q6ICL7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 35 member E4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ICL7-1", "PR:Q6ICL7-1", "ENSEMBL:ENSP00000339626", "ENSEMBL:ENSP00000339626.4"], "information_content": 100.0}
{"id": "UniProtKB:Q99706-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "killer cell immunoglobulin-like receptor 2DL4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q99706-3", "PR:Q99706-3", "ENSEMBL:ENSP00000339634", "ENSEMBL:ENSP00000339634.5", "ENSEMBL:ENSP00000477984", "ENSEMBL:ENSP00000477984.1", "ENSEMBL:ENSP00000479175", "ENSEMBL:ENSP00000479175.1", "ENSEMBL:ENSP00000479347", "ENSEMBL:ENSP00000479347.1", "ENSEMBL:ENSP00000484469", "ENSEMBL:ENSP00000484469.1", "ENSEMBL:ENSP00000491202", "ENSEMBL:ENSP00000491202.1", "ENSEMBL:ENSP00000491623", "ENSEMBL:ENSP00000491623.1", "ENSEMBL:ENSP00000492722", "ENSEMBL:ENSP00000492722.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6PJG6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BRCA1-associated ATM activator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PJG6-1", "PR:Q6PJG6-1", "ENSEMBL:ENSP00000339637", "ENSEMBL:ENSP00000339637.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9C040-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9C040-2", "PR:Q9C040-2", "ENSEMBL:ENSP00000339659", "ENSEMBL:ENSP00000339659.5"], "information_content": 100.0}
{"id": "NCBIGene:4697", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COXFA4", "equivalent_identifiers": ["NCBIGene:4697", "ENSEMBL:ENSG00000189043", "HGNC:7687", "OMIM:603833", "UMLS:C1417624", "UniProtKB:O00483", "PR:O00483", "ENSEMBL:ENSP00000339720", "ENSEMBL:ENSP00000339720.5", "UMLS:C3529394", "MESH:C577147"], "information_content": 90.9}
{"id": "UniProtKB:Q86X95-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "corepressor interacting with RBPJ 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86X95-1", "PR:Q86X95-1", "ENSEMBL:ENSP00000339723", "ENSEMBL:ENSP00000339723.3"], "information_content": 100.0}
{"id": "NCBIGene:401994", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR14I1", "equivalent_identifiers": ["NCBIGene:401994", "ENSEMBL:ENSG00000189181", "HGNC:19575", "OMIM:618516", "UMLS:C2678541", "UniProtKB:A0AAG2UVU5", "ENSEMBL:ENSP00000517766", "ENSEMBL:ENSP00000517766.1", "UniProtKB:A6ND48", "PR:A6ND48", "ENSEMBL:ENSP00000339726", "ENSEMBL:ENSP00000339726.3", "ENSEMBL:ENSP00000511782", "ENSEMBL:ENSP00000511782.1"], "information_content": 100.0}
{"id": "NCBIGene:7060", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THBS4", "equivalent_identifiers": ["NCBIGene:7060", "ENSEMBL:ENSG00000113296", "HGNC:11788", "OMIM:600715", "UMLS:C1420722", "UniProtKB:B7Z832", "UMLS:C1611593", "UniProtKB:E7ES19", "ENSEMBL:ENSP00000422298", "ENSEMBL:ENSP00000422298.1", "UniProtKB:P35443", "PR:P35443", "ENSEMBL:ENSP00000339730", "ENSEMBL:ENSP00000339730.2"], "information_content": 84.2}
{"id": "UniProtKB:P56559-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor-like protein 4C isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P56559-2", "PR:P56559-2", "ENSEMBL:ENSP00000339754", "ENSEMBL:ENSP00000339754.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PR domain zinc finger protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQV8-1", "PR:Q9NQV8-1", "ENSEMBL:ENSP00000339764", "ENSEMBL:ENSP00000339764.4", "ENSEMBL:ENSP00000406998", "ENSEMBL:ENSP00000406998.2", "ENSEMBL:ENSP00000423985", "ENSEMBL:ENSP00000423985.1"], "information_content": 100.0}
{"id": "UniProtKB:O60488-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "long-chain-fatty-acid--CoA ligase 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60488-1", "PR:O60488-1", "ENSEMBL:ENSP00000339787", "ENSEMBL:ENSP00000339787.2", "ENSEMBL:ENSP00000419171", "ENSEMBL:ENSP00000419171.2", "ENSEMBL:ENSP00000425408", "ENSEMBL:ENSP00000425408.2", "ENSEMBL:ENSP00000500897", "ENSEMBL:ENSP00000500897.1"], "information_content": 100.0}
{"id": "NCBIGene:6129", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL7", "equivalent_identifiers": ["NCBIGene:6129", "ENSEMBL:ENSG00000147604", "HGNC:10363", "OMIM:604166", "UMLS:C1419686", "UniProtKB:A8MUD9", "ENSEMBL:ENSP00000379729", "ENSEMBL:ENSP00000379729.1", "ENSEMBL:ENSP00000379730", "ENSEMBL:ENSP00000379730.1", "ENSEMBL:ENSP00000379731", "ENSEMBL:ENSP00000379731.1", "UniProtKB:P18124", "PR:P18124", "ENSEMBL:ENSP00000339795", "ENSEMBL:ENSP00000339795.2", "UMLS:C1622948", "MESH:C053634"], "information_content": 87.2}
{"id": "UniProtKB:P22304-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "iduronate 2-sulfatase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P22304-1", "PR:P22304-1", "ENSEMBL:ENSP00000339801", "ENSEMBL:ENSP00000339801.6"], "information_content": 100.0}
{"id": "MONDO:0001288", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endometriosis of rectovaginal septum and vagina", "equivalent_identifiers": ["MONDO:0001288", "DOID:11431", "UMLS:C0156346", "UMLS:C4281749", "NCIT:C128064", "SNOMEDCT:198253003", "medgen:510250", "ICD10:N80.4", "ICD9:617.4"], "information_content": 100.0}
{"id": "NCBIGene:340120", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD34B", "equivalent_identifiers": ["NCBIGene:340120", "ENSEMBL:ENSG00000189127", "HGNC:33736", "OMIM:618581", "UMLS:C2239672", "UniProtKB:A5PLL1", "PR:A5PLL1", "ENSEMBL:ENSP00000339802", "ENSEMBL:ENSP00000339802.3"], "information_content": 100.0}
{"id": "MONDO:0004824", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal candidiasis", "equivalent_identifiers": ["MONDO:0004824", "DOID:9577", "UMLS:C0276682", "MEDDRA:10028924", "NCIT:C116810", "SNOMEDCT:414821002", "medgen:547484", "ICD10:P37.5", "ICD9:771.7"], "information_content": 100.0}
{"id": "UniProtKB:Q969D9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thymic stromal lymphopoietin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969D9-1", "PR:Q969D9-1", "ENSEMBL:ENSP00000339804", "ENSEMBL:ENSP00000339804.3"], "information_content": 100.0}
{"id": "NCBIGene:8459", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPST2", "equivalent_identifiers": ["NCBIGene:8459", "ENSEMBL:ENSG00000128294", "HGNC:12021", "OMIM:603126", "UMLS:C1420881", "UniProtKB:O60704", "PR:O60704", "ENSEMBL:ENSP00000339813", "ENSEMBL:ENSP00000339813.4", "ENSEMBL:ENSP00000381180", "ENSEMBL:ENSP00000381180.2", "ENSEMBL:ENSP00000385192", "ENSEMBL:ENSP00000385192.1", "ENSEMBL:ENSP00000400357", "ENSEMBL:ENSP00000400357.2", "UMLS:C1610201", "MESH:C114740"], "information_content": 92.8}
{"id": "NCBIGene:339327", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF546", "equivalent_identifiers": ["NCBIGene:339327", "ENSEMBL:ENSG00000187187", "HGNC:28671", "UMLS:C1428732", "UniProtKB:B3KVL3", "UniProtKB:M0QY24", "ENSEMBL:ENSP00000469540", "ENSEMBL:ENSP00000469540.1", "ENSEMBL:ENSP00000487351", "ENSEMBL:ENSP00000487351.1", "UniProtKB:Q86UE3", "PR:Q86UE3", "ENSEMBL:ENSP00000339823", "ENSEMBL:ENSP00000339823.3", "ENSEMBL:ENSP00000487125", "ENSEMBL:ENSP00000487125.1"], "information_content": 100.0}
{"id": "UniProtKB:P22607-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibroblast growth factor receptor 3 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P22607-2", "PR:P22607-2", "ENSEMBL:ENSP00000339824", "ENSEMBL:ENSP00000339824.4"], "information_content": 95.4}
{"id": "MONDO:0007793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypochondroplasia", "equivalent_identifiers": ["MONDO:0007793", "DOID:0080041", "OMIM:146000", "orphanet:429", "UMLS:C0410529", "MESH:C562937", "MEDDRA:10020967", "NCIT:C118697", "SNOMEDCT:205468002", "medgen:98376", "icd11.foundation:1930265486", "ICD10:Q77.4"], "information_content": 100.0}
{"id": "MONDO:0008150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteoglophonic dwarfism", "equivalent_identifiers": ["MONDO:0008150", "DOID:0111532", "OMIM:166250", "orphanet:2645", "UMLS:C0432283", "MESH:C536050", "SNOMEDCT:254144002", "medgen:96592"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZUJ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoinositide 3-kinase adapter protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZUJ8-1", "PR:Q6ZUJ8-1", "ENSEMBL:ENSP00000339826", "ENSEMBL:ENSP00000339826.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6IEG0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U11/U12 small nuclear ribonucleoprotein 48 kDa protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IEG0-1", "PR:Q6IEG0-1", "ENSEMBL:ENSP00000339834", "ENSEMBL:ENSP00000339834.4"], "information_content": 100.0}
{"id": "MONDO:0018865", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "striate palmoplantar keratoderma", "equivalent_identifiers": ["MONDO:0018865", "DOID:0081105", "orphanet:50942", "UMLS:C4707237", "SNOMEDCT:764958008", "medgen:1631598", "icd11.foundation:1171134598"], "information_content": 92.8}
{"id": "NCBIGene:440093", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H3-5", "equivalent_identifiers": ["NCBIGene:440093", "ENSEMBL:ENSG00000188375", "HGNC:33164", "OMIM:616134", "UMLS:C2829556", "UniProtKB:Q6NXT2", "PR:Q6NXT2", "ENSEMBL:ENSP00000339835", "ENSEMBL:ENSP00000339835.3", "UMLS:C4723738"], "information_content": 95.4}
{"id": "UniProtKB:Q8N983-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein mL43 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q8N983-6", "PR:Q8N983-6", "ENSEMBL:ENSP00000339844", "ENSEMBL:ENSP00000339844.1"], "information_content": 100.0}
{"id": "MONDO:0013165", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 45", "equivalent_identifiers": ["MONDO:0013165", "DOID:0110797", "OMIM:613162", "orphanet:320396", "UMLS:C3888209", "SNOMEDCT:765753004", "medgen:854816"], "information_content": 100.0}
{"id": "NCBIGene:10570", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPYSL4", "equivalent_identifiers": ["NCBIGene:10570", "ENSEMBL:ENSG00000151640", "HGNC:3016", "OMIM:608407", "UMLS:C1414147", "UniProtKB:O14531", "PR:O14531", "ENSEMBL:ENSP00000339850", "ENSEMBL:ENSP00000339850.3", "UMLS:C1436839", "MESH:C485780"], "information_content": 92.8}
{"id": "NCBIGene:1180", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLCN1", "equivalent_identifiers": ["NCBIGene:1180", "ENSEMBL:ENSG00000188037", "HGNC:2019", "OMIM:118425", "UMLS:C1413450", "UniProtKB:P35523", "PR:P35523", "ENSEMBL:ENSP00000339867", "ENSEMBL:ENSP00000339867.2", "UMLS:C1122075"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXC5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GATOR2 complex protein MIOS isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXC5-1", "PR:Q9NXC5-1", "ENSEMBL:ENSP00000339881", "ENSEMBL:ENSP00000339881.4", "ENSEMBL:ENSP00000384088", "ENSEMBL:ENSP00000384088.1"], "information_content": 100.0}
{"id": "NCBIGene:3930", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LBR", "equivalent_identifiers": ["NCBIGene:3930", "ENSEMBL:ENSG00000143815", "HGNC:6518", "OMIM:600024", "UMLS:C1416802", "UniProtKB:Q14739", "PR:Q14739", "ENSEMBL:ENSP00000272163", "ENSEMBL:ENSP00000272163.4", "ENSEMBL:ENSP00000339883", "ENSEMBL:ENSP00000339883.2", "UMLS:C1623377", "MESH:C000727927"], "information_content": 78.5}
{"id": "NCBIGene:23767", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FLRT3", "equivalent_identifiers": ["NCBIGene:23767", "ENSEMBL:ENSG00000125848", "HGNC:3762", "OMIM:604808", "UMLS:C1333566", "UniProtKB:Q9NZU0", "PR:Q9NZU0", "ENSEMBL:ENSP00000339912", "ENSEMBL:ENSP00000339912.4", "ENSEMBL:ENSP00000367292", "ENSEMBL:ENSP00000367292.3", "UMLS:C1309390", "MESH:C404492"], "information_content": 95.4}
{"id": "UniProtKB:P53671-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM domain kinase 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P53671-3", "PR:P53671-3", "ENSEMBL:ENSP00000339916", "ENSEMBL:ENSP00000339916.4"], "information_content": 100.0}
{"id": "NCBIGene:51616", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAF9B", "equivalent_identifiers": ["NCBIGene:51616", "ENSEMBL:ENSG00000187325", "HGNC:17306", "OMIM:300754", "UMLS:C1823225", "UniProtKB:Q9HBM6", "PR:Q9HBM6", "ENSEMBL:ENSP00000339917", "ENSEMBL:ENSP00000339917.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6P2D8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "X-ray radiation resistance-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P2D8-1", "PR:Q6P2D8-1", "ENSEMBL:ENSP00000339918", "ENSEMBL:ENSP00000339918.6"], "information_content": 100.0}
{"id": "MONDO:0010136", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid dyshormonogenesis 4", "equivalent_identifiers": ["MONDO:0010136", "DOID:0112188", "OMIM:274800", "UMLS:C0342195", "MESH:C562770", "NCIT:C131435", "SNOMEDCT:17885001", "medgen:87429"], "information_content": 100.0}
{"id": "UniProtKB:P30613-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyruvate kinase PKLR isoform R-type (human)", "equivalent_identifiers": ["UniProtKB:P30613-1", "PR:P30613-1", "ENSEMBL:ENSP00000339933", "ENSEMBL:ENSP00000339933.4", "ENSEMBL:ENSP00000459921", "ENSEMBL:ENSP00000459921.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15573-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TATA box-binding protein-associated factor RNA polymerase I subunit A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15573-1", "PR:Q15573-1", "ENSEMBL:ENSP00000327072", "ENSEMBL:ENSP00000327072.6", "ENSEMBL:ENSP00000339976", "ENSEMBL:ENSP00000339976.4"], "information_content": 100.0}
{"id": "MONDO:0015515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "carnitine palmitoyltransferase II deficiency", "equivalent_identifiers": ["MONDO:0015515", "DOID:0060235", "orphanet:157", "UMLS:C0342790", "MESH:C535589", "NCIT:C114766", "SNOMEDCT:238002005", "medgen:137978", "icd11.foundation:204058632"], "information_content": 90.9}
{"id": "UniProtKB:P10242-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcriptional activator Myb isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P10242-4", "PR:P10242-4", "ENSEMBL:ENSP00000339992", "ENSEMBL:ENSP00000339992.5"], "information_content": 100.0}
{"id": "UniProtKB:P10809-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "60 kDa heat shock protein, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P10809-1", "PR:P10809-1", "ENSEMBL:ENSP00000340019", "ENSEMBL:ENSP00000340019.2", "ENSEMBL:ENSP00000373620", "ENSEMBL:ENSP00000373620.3", "ENSEMBL:ENSP00000396460", "ENSEMBL:ENSP00000396460.2", "ENSEMBL:ENSP00000402478", "ENSEMBL:ENSP00000402478.2", "ENSEMBL:ENSP00000412227", "ENSEMBL:ENSP00000412227.2", "ENSEMBL:ENSP00000412717", "ENSEMBL:ENSP00000412717.2", "ENSEMBL:ENSP00000414446", "ENSEMBL:ENSP00000414446.2", "ENSEMBL:ENSP00000503139", "ENSEMBL:ENSP00000503139.1", "ENSEMBL:ENSP00000503894", "ENSEMBL:ENSP00000503894.1"], "information_content": 100.0}
{"id": "MONDO:0005991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trench fever", "equivalent_identifiers": ["MONDO:0005991", "DOID:11101", "orphanet:64694", "EFO:0007519", "UMLS:C0040830", "MESH:D014205", "MEDDRA:10039206", "MEDDRA:10044582", "MEDDRA:10090568", "SNOMEDCT:82214002", "medgen:21637", "icd11.foundation:1587737629", "ICD10:A79.0", "ICD9:083.1"], "information_content": 100.0}
{"id": "NCBIGene:51315", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRCC1", "equivalent_identifiers": ["NCBIGene:51315", "ENSEMBL:ENSG00000172086", "HGNC:28039", "OMIM:621175", "UMLS:C1825739", "UniProtKB:Q9NPI7", "PR:Q9NPI7", "ENSEMBL:ENSP00000340083", "ENSEMBL:ENSP00000340083.3", "ENSEMBL:ENSP00000499834", "ENSEMBL:ENSP00000499834.1", "UMLS:C4742205", "MESH:C000627928"], "information_content": 95.4}
{"id": "MONDO:0850472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ST2 diffuse large B-cell lymphoma", "equivalent_identifiers": ["MONDO:0850472", "DOID:0081068", "UMLS:C5707084", "NCIT:C187445", "medgen:1815989"], "information_content": 89.4}
{"id": "MONDO:0003460", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "clear cell adenofibroma", "equivalent_identifiers": ["MONDO:0003460", "DOID:5477", "UMLS:C0334317", "UMLS:C5848071", "NCIT:C8987", "medgen:90762"], "information_content": 86.3}
{"id": "UniProtKB:O96001-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1 regulatory subunit 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O96001-1", "PR:O96001-1", "ENSEMBL:ENSP00000340125", "ENSEMBL:ENSP00000340125.3"], "information_content": 100.0}
{"id": "UniProtKB:Q93062-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein with multiple splicing isoform C (human)", "equivalent_identifiers": ["UniProtKB:Q93062-3", "PR:Q93062-3", "ENSEMBL:ENSP00000340176", "ENSEMBL:ENSP00000340176.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6IB77-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycine N-acyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IB77-1", "PR:Q6IB77-1", "ENSEMBL:ENSP00000340200", "ENSEMBL:ENSP00000340200.3", "ENSEMBL:ENSP00000431688", "ENSEMBL:ENSP00000431688.1", "ENSEMBL:ENSP00000484592", "ENSEMBL:ENSP00000484592.1"], "information_content": 100.0}
{"id": "NCBIGene:57175", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CORO1B", "equivalent_identifiers": ["NCBIGene:57175", "ENSEMBL:ENSG00000172725", "HGNC:2253", "OMIM:609849", "UMLS:C1413623", "UniProtKB:Q9BR76", "PR:Q9BR76", "ENSEMBL:ENSP00000340211", "ENSEMBL:ENSP00000340211.5", "ENSEMBL:ENSP00000377471", "ENSEMBL:ENSP00000377471.1", "UMLS:C1663800"], "information_content": 95.4}
{"id": "UniProtKB:Q8TE12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM homeobox transcription factor 1-alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TE12-1", "PR:Q8TE12-1", "ENSEMBL:ENSP00000294816", "ENSEMBL:ENSP00000294816.2", "ENSEMBL:ENSP00000340226", "ENSEMBL:ENSP00000340226.3", "ENSEMBL:ENSP00000356868", "ENSEMBL:ENSP00000356868.4"], "information_content": 100.0}
{"id": "UniProtKB:Q13530-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine incorporator 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13530-1", "PR:Q13530-1", "ENSEMBL:ENSP00000255175", "ENSEMBL:ENSP00000255175.1", "ENSEMBL:ENSP00000340243", "ENSEMBL:ENSP00000340243.4"], "information_content": 100.0}
{"id": "NCBIGene:83860", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAF3", "equivalent_identifiers": ["NCBIGene:83860", "ENSEMBL:ENSG00000165632", "HGNC:17303", "OMIM:606576", "UMLS:C1336566", "UniProtKB:A0A8I5KR98", "ENSEMBL:ENSP00000508875", "ENSEMBL:ENSP00000508875.1", "UniProtKB:Q5VWG9", "PR:Q5VWG9", "ENSEMBL:ENSP00000340271", "ENSEMBL:ENSP00000340271.5", "UMLS:C0968617", "MESH:C432689"], "information_content": 100.0}
{"id": "NCBIGene:11315", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PARK7", "equivalent_identifiers": ["NCBIGene:11315", "ENSEMBL:ENSG00000116288", "HGNC:16369", "OMIM:602533", "UMLS:C1424222", "UniProtKB:Q99497", "PR:Q99497", "ENSEMBL:ENSP00000340278", "ENSEMBL:ENSP00000340278.5", "ENSEMBL:ENSP00000366708", "ENSEMBL:ENSP00000366708.1", "ENSEMBL:ENSP00000366711", "ENSEMBL:ENSP00000366711.1", "ENSEMBL:ENSP00000418770", "ENSEMBL:ENSP00000418770.1", "ENSEMBL:ENSP00000465404", "ENSEMBL:ENSP00000465404.1", "UMLS:C0537311", "MESH:C105131", "UniProtKB:V9HWC2"], "information_content": 80.2}
{"id": "UniProtKB:Q9Y2D8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "afadin- and alpha-actinin-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2D8-1", "PR:Q9Y2D8-1", "ENSEMBL:ENSP00000340279", "ENSEMBL:ENSP00000340279.3"], "information_content": 100.0}
{"id": "UniProtKB:P80370-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein delta homolog 1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P80370-1", "PR:P80370-1", "ENSEMBL:ENSP00000340292", "ENSEMBL:ENSP00000340292.4"], "information_content": 100.0}
{"id": "NCBIGene:29800", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZDHHC1", "equivalent_identifiers": ["NCBIGene:29800", "ENSEMBL:ENSG00000159714", "HGNC:17916", "UMLS:C1425173", "UniProtKB:I3L202", "ENSEMBL:ENSP00000459264", "ENSEMBL:ENSP00000459264.2", "UMLS:C1435159", "MESH:C486179", "UniProtKB:Q8WTX9", "PR:Q8WTX9", "ENSEMBL:ENSP00000340299", "ENSEMBL:ENSP00000340299.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13404-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 variant 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q13404-7", "PR:Q13404-7", "ENSEMBL:ENSP00000340305", "ENSEMBL:ENSP00000340305.3", "ENSEMBL:ENSP00000360742", "ENSEMBL:ENSP00000360742.3"], "information_content": 100.0}
{"id": "NCBIGene:60506", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NYX", "equivalent_identifiers": ["NCBIGene:60506", "ENSEMBL:ENSG00000188937", "HGNC:8082", "OMIM:300278", "UMLS:C1417909", "UniProtKB:Q9GZU5", "PR:Q9GZU5", "ENSEMBL:ENSP00000340328", "ENSEMBL:ENSP00000340328.3", "ENSEMBL:ENSP00000367465", "ENSEMBL:ENSP00000367465.2", "UMLS:C1447805", "MESH:C416505"], "information_content": 100.0}
{"id": "UniProtKB:Q14444-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caprin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14444-1", "PR:Q14444-1", "ENSEMBL:ENSP00000340329", "ENSEMBL:ENSP00000340329.4", "ENSEMBL:ENSP00000434150", "ENSEMBL:ENSP00000434150.1"], "information_content": 100.0}
{"id": "MONDO:0011226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 15", "equivalent_identifiers": ["MONDO:0011226", "DOID:0110546", "OMIM:602459", "UMLS:C1865366", "MESH:C566545", "medgen:355451"], "information_content": 100.0}
{"id": "UniProtKB:Q92993-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone acetyltransferase KAT5 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q92993-3", "PR:Q92993-3", "ENSEMBL:ENSP00000340330", "ENSEMBL:ENSP00000340330.4"], "information_content": 100.0}
{"id": "UniProtKB:P36402-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor 7 isoform h2L (human)", "equivalent_identifiers": ["UniProtKB:P36402-5", "PR:P36402-5", "ENSEMBL:ENSP00000340347", "ENSEMBL:ENSP00000340347.5"], "information_content": 100.0}
{"id": "UniProtKB:Q13705-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "activin receptor type-2B isoform ActR-IIB2 (human)", "equivalent_identifiers": ["UniProtKB:Q13705-1", "PR:Q13705-1", "ENSEMBL:ENSP00000340361", "ENSEMBL:ENSP00000340361.3"], "information_content": 95.4}
{"id": "MONDO:0014352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abdominal obesity-metabolic syndrome 3", "equivalent_identifiers": ["MONDO:0014352", "DOID:0060612", "OMIM:615812", "UMLS:C4014361", "medgen:862798"], "information_content": 100.0}
{"id": "NCBIGene:729025", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC15A5", "equivalent_identifiers": ["NCBIGene:729025", "ENSEMBL:ENSG00000188991", "HGNC:33455", "OMIM:620324", "UMLS:C2680382", "UniProtKB:A6NIM6", "PR:A6NIM6", "ENSEMBL:ENSP00000340402", "ENSEMBL:ENSP00000340402.3"], "information_content": 100.0}
{"id": "MONDO:0002612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontal lobe epilepsy", "equivalent_identifiers": ["MONDO:0002612", "DOID:3331", "UMLS:C0085541", "MESH:D017034", "MEDDRA:10049424", "SNOMEDCT:230394006", "medgen:39074"], "information_content": 84.2}
{"id": "UniProtKB:P17405-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sphingomyelin phosphodiesterase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P17405-1", "PR:P17405-1", "ENSEMBL:ENSP00000340409", "ENSEMBL:ENSP00000340409.4"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z2K6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endoplasmic reticulum metallopeptidase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2K6-1", "PR:Q7Z2K6-1", "ENSEMBL:ENSP00000340427", "ENSEMBL:ENSP00000340427.5", "ENSEMBL:ENSP00000417160", "ENSEMBL:ENSP00000417160.1", "ENSEMBL:ENSP00000432986", "ENSEMBL:ENSP00000432986.2", "ENSEMBL:ENSP00000509092", "ENSEMBL:ENSP00000509092.1", "ENSEMBL:ENSP00000509328", "ENSEMBL:ENSP00000509328.1", "ENSEMBL:ENSP00000509900", "ENSEMBL:ENSP00000509900.1", "ENSEMBL:ENSP00000510190", "ENSEMBL:ENSP00000510190.1"], "information_content": 100.0}
{"id": "NCBIGene:84247", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTL6", "equivalent_identifiers": ["NCBIGene:84247", "ENSEMBL:ENSG00000188636", "HGNC:13343", "OMIM:621006", "UMLS:C1537559", "UniProtKB:Q6ICC9", "PR:Q6ICC9", "ENSEMBL:ENSP00000340434", "ENSEMBL:ENSP00000340434.3"], "information_content": 100.0}
{"id": "UniProtKB:Q658L1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stabilizer of axonemal microtubules 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q658L1-1", "PR:Q658L1-1", "ENSEMBL:ENSP00000340445", "ENSEMBL:ENSP00000340445.5"], "information_content": 100.0}
{"id": "UniProtKB:P52306-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rap1 GTPase-GDP dissociation stimulator 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P52306-5", "PR:P52306-5", "ENSEMBL:ENSP00000340454", "ENSEMBL:ENSP00000340454.5"], "information_content": 100.0}
{"id": "UniProtKB:Q14697-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neutral alpha-glucosidase AB isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q14697-2", "PR:Q14697-2", "ENSEMBL:ENSP00000340466", "ENSEMBL:ENSP00000340466.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8ND23-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "capping protein, Arp2/3 and myosin-I linker protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8ND23-1", "PR:Q8ND23-1", "ENSEMBL:ENSP00000340467", "ENSEMBL:ENSP00000340467.5", "ENSEMBL:ENSP00000493710", "ENSEMBL:ENSP00000493710.1"], "information_content": 100.0}
{"id": "MONDO:0003575", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "comedocarcinoma", "equivalent_identifiers": ["MONDO:0003575", "DOID:5670", "UMLS:C0334370", "NCIT:C4188", "SNOMEDCT:36425007", "medgen:90773"], "information_content": 88.2}
{"id": "UniProtKB:Q8N9H8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exonuclease mut-7 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9H8-1", "PR:Q8N9H8-1", "ENSEMBL:ENSP00000340474", "ENSEMBL:ENSP00000340474.4"], "information_content": 100.0}
{"id": "NCBIGene:55893", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF395", "equivalent_identifiers": ["NCBIGene:55893", "ENSEMBL:ENSG00000186918", "HGNC:18737", "OMIM:609494", "UMLS:C1538187", "UniProtKB:Q7L9C8", "UniProtKB:Q9H8N7", "PR:Q9H8N7", "ENSEMBL:ENSP00000340494", "ENSEMBL:ENSP00000340494.5", "ENSEMBL:ENSP00000428452", "ENSEMBL:ENSP00000428452.1", "ENSEMBL:ENSP00000429640", "ENSEMBL:ENSP00000429640.1", "UMLS:C1450802", "MESH:C484332"], "information_content": 92.8}
{"id": "NCBIGene:123228", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SENP8", "equivalent_identifiers": ["NCBIGene:123228", "ENSEMBL:ENSG00000166192", "HGNC:22992", "OMIM:608659", "UMLS:C1427843", "UniProtKB:A8K8D3", "UMLS:C1311378", "MESH:C477008", "UniProtKB:Q96LD8", "PR:Q96LD8", "ENSEMBL:ENSP00000340505", "ENSEMBL:ENSP00000340505.4", "ENSEMBL:ENSP00000446057", "ENSEMBL:ENSP00000446057.2"], "information_content": 100.0}
{"id": "MONDO:0000273", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kunjin virus infectous disease", "equivalent_identifiers": ["MONDO:0000273", "DOID:0050174"], "information_content": 100.0}
{"id": "MONDO:0006633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acalculous cholecystitis", "equivalent_identifiers": ["MONDO:0006633", "DOID:2828", "EFO:1000790", "UMLS:C0267841", "MESH:D042101", "MEDDRA:10000347", "NCIT:C35578", "SNOMEDCT:19968009", "medgen:82762"], "information_content": 92.8}
{"id": "MONDO:0006884", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "panophthalmitis", "equivalent_identifiers": ["MONDO:0006884", "DOID:13732", "EFO:1001081", "UMLS:C0030332", "MESH:D010202", "MEDDRA:10033683", "SNOMEDCT:33382000", "medgen:10561", "icd11.foundation:349386559", "ICD9:360.02"], "information_content": 100.0}
{"id": "UniProtKB:O15164-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription intermediary factor 1-alpha isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O15164-1", "PR:O15164-1", "ENSEMBL:ENSP00000340507", "ENSEMBL:ENSP00000340507.4"], "information_content": 100.0}
{"id": "NCBIGene:5493", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPL", "equivalent_identifiers": ["NCBIGene:5493", "ENSEMBL:ENSG00000118898", "HGNC:9273", "OMIM:602871", "UMLS:C1418813", "UniProtKB:O60437", "PR:O60437", "ENSEMBL:ENSP00000340510", "ENSEMBL:ENSP00000340510.2", "UMLS:C1455317", "MESH:C491674"], "information_content": 92.8}
{"id": "UniProtKB:Q96QE4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 37B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QE4-1", "PR:Q96QE4-1", "ENSEMBL:ENSP00000340519", "ENSEMBL:ENSP00000340519.7"], "information_content": 100.0}
{"id": "NCBIGene:257313", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UTS2B", "equivalent_identifiers": ["NCBIGene:257313", "ENSEMBL:ENSG00000188958", "HGNC:30894", "OMIM:618134", "UMLS:C1540170", "UniProtKB:F8WCV4", "ENSEMBL:ENSP00000415628", "ENSEMBL:ENSP00000415628.1", "UMLS:C1313387", "MESH:C479080", "UniProtKB:Q765I0", "PR:Q765I0", "ENSEMBL:ENSP00000340526", "ENSEMBL:ENSP00000340526.5", "ENSEMBL:ENSP00000398761", "ENSEMBL:ENSP00000398761.2"], "information_content": 100.0}
{"id": "NCBIGene:85289", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP4-5", "equivalent_identifiers": ["NCBIGene:85289", "ENSEMBL:ENSG00000198271", "HGNC:18899", "UMLS:C1425867", "UniProtKB:Q9BYR2", "PR:Q9BYR2", "ENSEMBL:ENSP00000340546", "ENSEMBL:ENSP00000340546.4", "ENSEMBL:ENSP00000517791", "ENSEMBL:ENSP00000517791.1"], "information_content": 100.0}
{"id": "NCBIGene:341947", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX8C", "equivalent_identifiers": ["NCBIGene:341947", "ENSEMBL:ENSG00000187581", "HGNC:24382", "OMIM:616855", "UMLS:C1428373", "UniProtKB:Q7Z4L0", "PR:Q7Z4L0", "ENSEMBL:ENSP00000340568", "ENSEMBL:ENSP00000340568.2", "ENSEMBL:ENSP00000480706", "ENSEMBL:ENSP00000480706.1", "UMLS:C1312103", "MESH:C477826"], "information_content": 95.4}
{"id": "UniProtKB:Q6ZTQ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras association domain-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZTQ3-1", "PR:Q6ZTQ3-1", "ENSEMBL:ENSP00000340578", "ENSEMBL:ENSP00000340578.3"], "information_content": 100.0}
{"id": "NCBIGene:340595", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTL4", "equivalent_identifiers": ["NCBIGene:340595", "ENSEMBL:ENSG00000187823", "HGNC:25214", "OMIM:301131", "UMLS:C1823932", "UniProtKB:Q6ZR62", "PR:Q6ZR62", "ENSEMBL:ENSP00000340590", "ENSEMBL:ENSP00000340590.2", "ENSEMBL:ENSP00000512188", "ENSEMBL:ENSP00000512188.1", "ENSEMBL:ENSP00000512211", "ENSEMBL:ENSP00000512211.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5VT97-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein SYDE2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VT97-1", "PR:Q5VT97-1", "ENSEMBL:ENSP00000340594", "ENSEMBL:ENSP00000340594.5"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z3V4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-protein ligase E3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3V4-1", "PR:Q7Z3V4-1", "ENSEMBL:ENSP00000340596", "ENSEMBL:ENSP00000340596.3", "ENSEMBL:ENSP00000391529", "ENSEMBL:ENSP00000391529.2"], "information_content": 100.0}
{"id": "MONDO:0006987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subvalvular aortic stenosis", "equivalent_identifiers": ["MONDO:0006987", "DOID:5805", "EFO:1001199", "UMLS:C0340375", "MESH:D001020", "MEDDRA:10042431", "NCIT:C85172", "SNOMEDCT:204368006", "medgen:90950", "HP:0001682"], "information_content": 92.8}
{"id": "UniProtKB:Q9HBY8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Sgk2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBY8-2", "PR:Q9HBY8-2", "ENSEMBL:ENSP00000340608", "ENSEMBL:ENSP00000340608.5", "ENSEMBL:ENSP00000362192", "ENSEMBL:ENSP00000362192.1", "ENSEMBL:ENSP00000392795", "ENSEMBL:ENSP00000392795.3", "ENSEMBL:ENSP00000412214", "ENSEMBL:ENSP00000412214.2"], "information_content": 100.0}
{"id": "MONDO:0015705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive centronuclear myopathy", "equivalent_identifiers": ["MONDO:0015705", "DOID:0111216", "orphanet:169186", "UMLS:C3645536", "SNOMEDCT:240081004", "medgen:771131", "icd11.foundation:1844602815"], "information_content": 92.8}
{"id": "NCBIGene:338599", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUSP29", "equivalent_identifiers": ["NCBIGene:338599", "ENSEMBL:ENSG00000188716", "HGNC:23481", "OMIM:618574", "UMLS:C1428095", "UniProtKB:Q68J44", "PR:Q68J44", "ENSEMBL:ENSP00000340609", "ENSEMBL:ENSP00000340609.5", "ENSEMBL:ENSP00000487404", "ENSEMBL:ENSP00000487404.1"], "information_content": 100.0}
{"id": "MONDO:0000338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "variola major", "equivalent_identifiers": ["MONDO:0000338", "DOID:0050508", "UMLS:C1812609", "MEDDRA:10047031", "SNOMEDCT:47452006", "medgen:740750", "ICD9:050.0"], "information_content": 100.0}
{"id": "NCBIGene:145645", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TERB2", "equivalent_identifiers": ["NCBIGene:145645", "ENSEMBL:ENSG00000167014", "HGNC:28520", "OMIM:617131", "UMLS:C1824407", "UniProtKB:Q8NHR7", "PR:Q8NHR7", "ENSEMBL:ENSP00000340644", "ENSEMBL:ENSP00000340644.3", "UMLS:C5196611", "MESH:C000629705"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6Z7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase HUWE1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6Z7-1", "PR:Q7Z6Z7-1", "ENSEMBL:ENSP00000262854", "ENSEMBL:ENSP00000262854.6", "ENSEMBL:ENSP00000340648", "ENSEMBL:ENSP00000340648.3"], "information_content": 100.0}
{"id": "NCBIGene:64100", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELSPBP1", "equivalent_identifiers": ["NCBIGene:64100", "ENSEMBL:ENSG00000169393", "HGNC:14417", "OMIM:607443", "UMLS:C1422634", "UniProtKB:A0A384NKL6", "UMLS:C1957380", "MESH:C520099", "UniProtKB:Q96BH3", "PR:Q96BH3", "ENSEMBL:ENSP00000340660", "ENSEMBL:ENSP00000340660.2"], "information_content": 95.4}
{"id": "MONDO:0025699", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Coffin-Siris syndrome 12", "equivalent_identifiers": ["MONDO:0025699", "DOID:0112370", "OMIM:619325", "UMLS:C5444111", "medgen:1782096"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWD8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 248 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWD8-1", "PR:Q9NWD8-1", "ENSEMBL:ENSP00000340668", "ENSEMBL:ENSP00000340668.4"], "information_content": 100.0}
{"id": "NCBIGene:7479", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT8B", "equivalent_identifiers": ["NCBIGene:7479", "ENSEMBL:ENSG00000075290", "HGNC:12789", "OMIM:601396", "UMLS:C1421519", "UniProtKB:A0A384NKY7", "UMLS:C1453247", "MESH:C490604", "UniProtKB:Q93098", "PR:Q93098", "ENSEMBL:ENSP00000340677", "ENSEMBL:ENSP00000340677.5"], "information_content": 90.9}
{"id": "UniProtKB:P16415-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 823 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P16415-1", "PR:P16415-1", "ENSEMBL:ENSP00000340683", "ENSEMBL:ENSP00000340683.5"], "information_content": 100.0}
{"id": "UniProtKB:P21397-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amine oxidase [flavin-containing] A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P21397-1", "PR:P21397-1", "ENSEMBL:ENSP00000340684", "ENSEMBL:ENSP00000340684.3"], "information_content": 100.0}
{"id": "UniProtKB:O94910-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G protein-coupled receptor L1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94910-1", "PR:O94910-1", "ENSEMBL:ENSP00000340688", "ENSEMBL:ENSP00000340688.5", "ENSEMBL:ENSP00000500240", "ENSEMBL:ENSP00000500240.1"], "information_content": 100.0}
{"id": "NCBIGene:1978", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF4EBP1", "equivalent_identifiers": ["NCBIGene:1978", "ENSEMBL:ENSG00000187840", "HGNC:3288", "OMIM:602223", "UMLS:C1414352", "UniProtKB:Q13541", "PR:Q13541", "ENSEMBL:ENSP00000340691", "ENSEMBL:ENSP00000340691.4", "UMLS:C0254260", "MESH:C087000"], "information_content": 81.3}
{"id": "UniProtKB:P46976-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycogenin-1 isoform hGN-1L (human)", "equivalent_identifiers": ["UniProtKB:P46976-1", "PR:P46976-1", "ENSEMBL:ENSP00000340736", "ENSEMBL:ENSP00000340736.4"], "information_content": 100.0}
{"id": "NCBIGene:347468", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR13H1", "equivalent_identifiers": ["NCBIGene:347468", "ENSEMBL:ENSG00000171054", "HGNC:14755", "UMLS:C1422905", "UniProtKB:A0A126GW70", "UniProtKB:Q8NG92", "PR:Q8NG92", "ENSEMBL:ENSP00000340748", "ENSEMBL:ENSP00000340748.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZU64-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 65 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZU64-1", "PR:Q6ZU64-1", "ENSEMBL:ENSP00000340776", "ENSEMBL:ENSP00000340776.5", "ENSEMBL:ENSP00000409117", "ENSEMBL:ENSP00000409117.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5BKZ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DBIRD complex subunit ZNF326 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5BKZ1-1", "PR:Q5BKZ1-1", "ENSEMBL:ENSP00000340796", "ENSEMBL:ENSP00000340796.4"], "information_content": 100.0}
{"id": "NCBIGene:2709", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJB5", "equivalent_identifiers": ["NCBIGene:2709", "ENSEMBL:ENSG00000189280", "HGNC:4287", "OMIM:604493", "UMLS:C1415080", "UniProtKB:A0A654IE64", "UMLS:C3883871", "MESH:C000594152", "UniProtKB:O95377", "PR:O95377", "ENSEMBL:ENSP00000340811", "ENSEMBL:ENSP00000340811.1"], "information_content": 100.0}
{"id": "NCBIGene:4137", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAPT", "equivalent_identifiers": ["NCBIGene:4137", "ENSEMBL:ENSG00000186868", "HGNC:6893", "OMIM:157140", "UMLS:C1446659", "UniProtKB:A0A7I2PJZ2", "ENSEMBL:ENSP00000262410", "ENSEMBL:ENSP00000262410.6", "UniProtKB:A0A7I2PLE3", "ENSEMBL:ENSP00000340820", "ENSEMBL:ENSP00000340820.6", "UniProtKB:B3KTM0", "UniProtKB:P10636", "PR:P10636"]}
{"id": "MONDO:0007104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis-parkinsonism-dementia complex", "equivalent_identifiers": ["MONDO:0007104", "DOID:0111246", "OMIM:105500", "orphanet:90020", "UMLS:C0543859", "SNOMEDCT:838276009", "medgen:107775"], "information_content": 100.0}
{"id": "MONDO:0018687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive muscular atrophy", "equivalent_identifiers": ["MONDO:0018687", "DOID:318", "orphanet:454706", "UMLS:C0917981", "UMLS:C4082951", "MEDDRA:10036808", "NCIT:C195922", "NCIT:C85027", "SNOMEDCT:88923002", "medgen:906831", "icd11.foundation:1282359533", "ICD9:335.21", "HP:0009067"], "information_content": 95.4}
{"id": "NCBIGene:26578", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OSTF1", "equivalent_identifiers": ["NCBIGene:26578", "ENSEMBL:ENSG00000134996", "HGNC:8510", "OMIM:610180", "UMLS:C1418192", "UniProtKB:Q92882", "PR:Q92882", "ENSEMBL:ENSP00000340836", "ENSEMBL:ENSP00000340836.6", "UMLS:C1309000", "MESH:C118408"], "information_content": 92.8}
{"id": "MONDO:0001139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Masochism", "equivalent_identifiers": ["MONDO:0001139", "DOID:10849", "UMLS:C0024862", "UMLS:C0036908", "MESH:D008398", "MEDDRA:10026864", "MEDDRA:10040484", "NCIT:C94356", "SNOMEDCT:51239001", "SNOMEDCT:64031009", "medgen:20727", "ICD10:F65.51", "ICD9:302.83"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZSS3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 621 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZSS3-1", "PR:Q6ZSS3-1", "ENSEMBL:ENSP00000340841", "ENSEMBL:ENSP00000340841.5", "ENSEMBL:ENSP00000386051", "ENSEMBL:ENSP00000386051.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complement C1q tumor necrosis factor-related protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXJ1-1", "PR:Q9BXJ1-1", "ENSEMBL:ENSP00000340864", "ENSEMBL:ENSP00000340864.2", "ENSEMBL:ENSP00000343230", "ENSEMBL:ENSP00000343230.4", "ENSEMBL:ENSP00000376240", "ENSEMBL:ENSP00000376240.2", "ENSEMBL:ENSP00000462481", "ENSEMBL:ENSP00000462481.2", "ENSEMBL:ENSP00000462990", "ENSEMBL:ENSP00000462990.1", "ENSEMBL:ENSP00000463008", "ENSEMBL:ENSP00000463008.1", "ENSEMBL:ENSP00000463108", "ENSEMBL:ENSP00000463108.1", "ENSEMBL:ENSP00000463922", "ENSEMBL:ENSP00000463922.1"], "information_content": 100.0}
{"id": "UniProtKB:Q06413-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myocyte-specific enhancer factor 2C isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q06413-5", "PR:Q06413-5", "ENSEMBL:ENSP00000340874", "ENSEMBL:ENSP00000340874.5"], "information_content": 100.0}
{"id": "NCBIGene:6598", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMARCB1", "equivalent_identifiers": ["NCBIGene:6598", "ENSEMBL:ENSG00000099956", "HGNC:11103", "OMIM:601607", "UMLS:C0812273", "UniProtKB:G5E975", "ENSEMBL:ENSP00000340883", "ENSEMBL:ENSP00000340883.6", "ENSEMBL:ENSP00000486780", "ENSEMBL:ENSP00000486780.1", "UniProtKB:Q12824", "PR:Q12824", "UMLS:C0292369", "MESH:C513266", "UniProtKB:Q9H836"]}
{"id": "MONDO:0002436", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasal disorder", "equivalent_identifiers": ["MONDO:0002436", "DOID:2825", "UMLS:C0028432", "MESH:D009668", "MEDDRA:10052355", "MEDDRA:10062209", "SNOMEDCT:89488007", "medgen:10385"], "information_content": 70.3}
{"id": "UniProtKB:Q9UBL3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Set1/Ash2 histone methyltransferase complex subunit ASH2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBL3-1", "PR:Q9UBL3-1", "ENSEMBL:ENSP00000340896", "ENSEMBL:ENSP00000340896.5"], "information_content": 100.0}
{"id": "UniProtKB:Q5JRA6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transport and Golgi organization protein 1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JRA6-1", "PR:Q5JRA6-1", "ENSEMBL:ENSP00000340900", "ENSEMBL:ENSP00000340900.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y210-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "short transient receptor potential channel 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y210-1", "PR:Q9Y210-1", "ENSEMBL:ENSP00000340913", "ENSEMBL:ENSP00000340913.3"], "information_content": 100.0}
{"id": "MONDO:0004841", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kidney hypertrophy", "equivalent_identifiers": ["MONDO:0004841", "DOID:9622", "UMLS:C0156259", "MEDDRA:10020888", "MEDDRA:10038468", "NCIT:C122991", "SNOMEDCT:88531004", "medgen:510218", "ICD10:N28.81", "ICD9:593.1"], "information_content": 100.0}
{"id": "NCBIGene:84258", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYT3", "equivalent_identifiers": ["NCBIGene:84258", "ENSEMBL:ENSG00000213023", "HGNC:11511", "OMIM:600327", "UMLS:C1420558", "UniProtKB:Q9BQG1", "PR:Q9BQG1", "ENSEMBL:ENSP00000340914", "ENSEMBL:ENSP00000340914.3", "ENSEMBL:ENSP00000468982", "ENSEMBL:ENSP00000468982.1", "ENSEMBL:ENSP00000469398", "ENSEMBL:ENSP00000469398.1", "UMLS:C1530322", "MESH:C494288"], "information_content": 100.0}
{"id": "UniProtKB:Q13316-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dentin matrix acidic phosphoprotein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13316-1", "PR:Q13316-1", "ENSEMBL:ENSP00000340935", "ENSEMBL:ENSP00000340935.6"], "information_content": 100.0}
{"id": "UniProtKB:P56856-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "claudin-18 isoform hA2 (human)", "equivalent_identifiers": ["UniProtKB:P56856-2", "PR:P56856-2", "ENSEMBL:ENSP00000340939", "ENSEMBL:ENSP00000340939.4"], "information_content": 100.0}
{"id": "UniProtKB:Q13324-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "corticotropin-releasing factor receptor 2 isoform beta (human)", "equivalent_identifiers": ["UniProtKB:Q13324-2", "PR:Q13324-2", "ENSEMBL:ENSP00000340943", "ENSEMBL:ENSP00000340943.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96M20-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic nucleotide-binding domain-containing protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96M20-2", "PR:Q96M20-2", "ENSEMBL:ENSP00000340954", "ENSEMBL:ENSP00000340954.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99932-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sperm-associated antigen 8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99932-2", "PR:Q99932-2", "ENSEMBL:ENSP00000340982", "ENSEMBL:ENSP00000340982.2"], "information_content": 100.0}
{"id": "NCBIGene:126364", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC25", "equivalent_identifiers": ["NCBIGene:126364", "ENSEMBL:ENSG00000175489", "HGNC:29806", "OMIM:607518", "UMLS:C1428894", "UniProtKB:Q8N386", "PR:Q8N386", "ENSEMBL:ENSP00000340983", "ENSEMBL:ENSP00000340983.2", "ENSEMBL:ENSP00000472290", "ENSEMBL:ENSP00000472290.1", "UMLS:C1172374", "MESH:C468574"], "information_content": 89.4}
{"id": "NCBIGene:401944", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LDLRAD2", "equivalent_identifiers": ["NCBIGene:401944", "ENSEMBL:ENSG00000187942", "HGNC:32071", "UMLS:C1825805", "UniProtKB:Q5SZI1", "PR:Q5SZI1", "ENSEMBL:ENSP00000340988", "ENSEMBL:ENSP00000340988.2", "ENSEMBL:ENSP00000444097", "ENSEMBL:ENSP00000444097.1", "UMLS:C5433540", "MESH:C000710808"], "information_content": 100.0}
{"id": "UniProtKB:P31947-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "14-3-3 protein sigma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P31947-1", "PR:P31947-1", "ENSEMBL:ENSP00000340989", "ENSEMBL:ENSP00000340989.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9HB63-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "netrin-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HB63-1", "PR:Q9HB63-1", "ENSEMBL:ENSP00000340998", "ENSEMBL:ENSP00000340998.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6UX39-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amelotin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UX39-1", "PR:Q6UX39-1", "ENSEMBL:ENSP00000341013", "ENSEMBL:ENSP00000341013.4"], "information_content": 100.0}
{"id": "NCBIGene:339345", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NANOS2", "equivalent_identifiers": ["NCBIGene:339345", "ENSEMBL:ENSG00000188425", "HGNC:23292", "OMIM:608228", "UMLS:C1428026", "UniProtKB:P60321", "PR:P60321", "ENSEMBL:ENSP00000341021", "ENSEMBL:ENSP00000341021.2", "UMLS:C4506550", "MESH:C000617752"], "information_content": 100.0}
{"id": "NCBIGene:1447", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSN2", "equivalent_identifiers": ["NCBIGene:1447", "ENSEMBL:ENSG00000135222", "HGNC:2447", "OMIM:115460", "UMLS:C1384512", "UniProtKB:P05814", "PR:P05814", "ENSEMBL:ENSP00000341030", "ENSEMBL:ENSP00000341030.3", "UniProtKB:W5RWE1"], "information_content": 95.4}
{"id": "MONDO:0002334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hematopoietic and lymphoid system neoplasm", "equivalent_identifiers": ["MONDO:0002334", "DOID:2531", "UMLS:C0376545", "UMLS:C1512393", "MESH:D019337", "MEDDRA:10066476", "MEDDRA:10066481", "MEDDRA:10086698", "MEDDRA:10086808", "NCIT:C35813", "SNOMEDCT:129154003", "medgen:268180", "HP:0004377"], "information_content": 47.4}
{"id": "NCBIGene:285386", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPRG1", "equivalent_identifiers": ["NCBIGene:285386", "ENSEMBL:ENSG00000188001", "HGNC:24759", "UMLS:C1825153", "UniProtKB:Q6ZUI0", "PR:Q6ZUI0", "ENSEMBL:ENSP00000341031", "ENSEMBL:ENSP00000341031.3", "ENSEMBL:ENSP00000412547", "ENSEMBL:ENSP00000412547.1", "UMLS:C2745424", "MESH:C545607"], "information_content": 100.0}
{"id": "MONDO:0002287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glandular cystitis", "equivalent_identifiers": ["MONDO:0002287", "DOID:2392", "UMLS:C0268837", "MEDDRA:10048837", "NCIT:C39860", "SNOMEDCT:72815004", "medgen:82830"], "information_content": 95.4}
{"id": "MONDO:0020737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 10 with or without ataxia, intellectual disability, and seizures", "equivalent_identifiers": ["MONDO:0020737", "DOID:0111434", "OMIM:616732", "UMLS:C4225227", "medgen:905727"], "information_content": 100.0}
{"id": "NCBIGene:7477", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT7B", "equivalent_identifiers": ["NCBIGene:7477", "ENSEMBL:ENSG00000188064", "HGNC:12787", "OMIM:601967", "UMLS:C1421517", "UniProtKB:A8K0G1", "ENSEMBL:ENSP00000386546", "ENSEMBL:ENSP00000386546.3", "UniProtKB:P56706", "PR:P56706", "ENSEMBL:ENSP00000341032", "ENSEMBL:ENSP00000341032.4", "UMLS:C1455502", "MESH:C490675"], "information_content": 89.4}
{"id": "UniProtKB:O00763-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetyl-CoA carboxylase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00763-1", "PR:O00763-1", "ENSEMBL:ENSP00000341044", "ENSEMBL:ENSP00000341044.7", "ENSEMBL:ENSP00000367079", "ENSEMBL:ENSP00000367079.3"], "information_content": 100.0}
{"id": "NCBIGene:7366", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UGT2B15", "equivalent_identifiers": ["NCBIGene:7366", "ENSEMBL:ENSG00000196620", "HGNC:12546", "OMIM:600069", "UMLS:C1421338", "UniProtKB:P54855", "PR:P54855", "ENSEMBL:ENSP00000341045", "ENSEMBL:ENSP00000341045.5", "UMLS:C3537396"], "information_content": 90.9}
{"id": "UniProtKB:Q9NR81-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR81-2", "PR:Q9NR81-2", "ENSEMBL:ENSP00000341071", "ENSEMBL:ENSP00000341071.4"], "information_content": 100.0}
{"id": "MONDO:0014334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to LCK deficiency", "equivalent_identifiers": ["MONDO:0014334", "DOID:0111937", "OMIM:615758", "orphanet:280142", "UMLS:C4014233", "NCIT:C176808", "medgen:862670", "icd11.foundation:999642330"], "information_content": 100.0}
{"id": "UniProtKB:P20594-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "atrial natriuretic peptide receptor 2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P20594-1", "PR:P20594-1", "ENSEMBL:ENSP00000341083", "ENSEMBL:ENSP00000341083.2"], "information_content": 100.0}
{"id": "NCBIGene:3167", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMX2", "equivalent_identifiers": ["NCBIGene:3167", "ENSEMBL:ENSG00000188816", "HGNC:5018", "OMIM:600647", "UMLS:C1415623", "UniProtKB:A2RU54", "PR:A2RU54", "ENSEMBL:ENSP00000341108", "ENSEMBL:ENSP00000341108.3"], "information_content": 95.4}
{"id": "NCBIGene:113675", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDSL", "equivalent_identifiers": ["NCBIGene:113675", "ENSEMBL:ENSG00000139410", "HGNC:30404", "OMIM:620735", "UMLS:C1428977", "UniProtKB:Q96GA7", "PR:Q96GA7", "ENSEMBL:ENSP00000341117", "ENSEMBL:ENSP00000341117.4", "ENSEMBL:ENSP00000385790", "ENSEMBL:ENSP00000385790.4"], "information_content": 92.8}
{"id": "NCBIGene:375341", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C3orf62", "equivalent_identifiers": ["NCBIGene:375341", "ENSEMBL:ENSG00000188315", "HGNC:24771", "UMLS:C1824157", "UniProtKB:Q6ZUJ4", "PR:Q6ZUJ4", "ENSEMBL:ENSP00000341139", "ENSEMBL:ENSP00000341139.3", "UMLS:C5433921", "MESH:C000712512"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialoadhesin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZZ2-1", "PR:Q9BZZ2-1", "ENSEMBL:ENSP00000341141", "ENSEMBL:ENSP00000341141.4"], "information_content": 100.0}
{"id": "UniProtKB:Q49MI3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ceramide kinase-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q49MI3-1", "PR:Q49MI3-1", "ENSEMBL:ENSP00000341159", "ENSEMBL:ENSP00000341159.5"], "information_content": 100.0}
{"id": "UniProtKB:Q68DY9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 772 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68DY9-1", "PR:Q68DY9-1", "ENSEMBL:ENSP00000341165", "ENSEMBL:ENSP00000341165.4"], "information_content": 100.0}
{"id": "NCBIGene:5764", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTN", "equivalent_identifiers": ["NCBIGene:5764", "ENSEMBL:ENSG00000105894", "HGNC:9630", "OMIM:162095", "UMLS:C1335278", "UniProtKB:A0A8V8TNI1", "ENSEMBL:ENSP00000514273", "ENSEMBL:ENSP00000514273.1", "UniProtKB:P21246", "PR:P21246", "ENSEMBL:ENSP00000341170", "ENSEMBL:ENSP00000341170.2", "UMLS:C1527983"], "information_content": 89.4}
{"id": "NCBIGene:643338", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C15orf62", "equivalent_identifiers": ["NCBIGene:643338", "ENSEMBL:ENSG00000188277", "HGNC:34489", "UMLS:C2681292", "UniProtKB:A8K5M9", "PR:A8K5M9", "ENSEMBL:ENSP00000341178", "ENSEMBL:ENSP00000341178.6"], "information_content": 100.0}
{"id": "UniProtKB:Q05397-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "focal adhesion kinase 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q05397-5", "PR:Q05397-5", "ENSEMBL:ENSP00000341189", "ENSEMBL:ENSP00000341189.3"], "information_content": 100.0}
{"id": "UniProtKB:Q92859-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neogenin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92859-1", "PR:Q92859-1", "ENSEMBL:ENSP00000261908", "ENSEMBL:ENSP00000261908.6", "ENSEMBL:ENSP00000341198", "ENSEMBL:ENSP00000341198.5"], "information_content": 100.0}
{"id": "NCBIGene:10164", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHST4", "equivalent_identifiers": ["NCBIGene:10164", "ENSEMBL:ENSG00000140835", "HGNC:1972", "UMLS:C1413417", "UniProtKB:Q8NCG5", "PR:Q8NCG5", "ENSEMBL:ENSP00000341206", "ENSEMBL:ENSP00000341206.5", "ENSEMBL:ENSP00000441204", "ENSEMBL:ENSP00000441204.3", "UMLS:C2000668", "MESH:C000728085"], "information_content": 100.0}
{"id": "UniProtKB:P42229-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal transducer and activator of transcription 5A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P42229-1", "PR:P42229-1", "ENSEMBL:ENSP00000341208", "ENSEMBL:ENSP00000341208.4", "ENSEMBL:ENSP00000468749", "ENSEMBL:ENSP00000468749.1", "ENSEMBL:ENSP00000503262", "ENSEMBL:ENSP00000503262.1", "ENSEMBL:ENSP00000504449", "ENSEMBL:ENSP00000504449.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUV8-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GEL complex subunit OPTI isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUV8-5", "PR:Q9BUV8-5", "ENSEMBL:ENSP00000341213", "ENSEMBL:ENSP00000341213.3"], "information_content": 100.0}
{"id": "NCBIGene:3010", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H1-6", "equivalent_identifiers": ["NCBIGene:3010", "ENSEMBL:ENSG00000187475", "HGNC:4720", "OMIM:142712", "UMLS:C5202971", "UniProtKB:P22492", "PR:P22492", "ENSEMBL:ENSP00000341214", "ENSEMBL:ENSP00000341214.5", "UMLS:C5202970"], "information_content": 100.0}
{"id": "MONDO:0005645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ancylostomiasis", "equivalent_identifiers": ["MONDO:0005645", "DOID:12841", "orphanet:78", "EFO:0007145", "UMLS:C0002831", "MESH:D000724", "MEDDRA:10002255", "NCIT:C35805", "SNOMEDCT:63479002", "medgen:1522", "icd11.foundation:1542252776", "ICD10:B76.0"], "information_content": 90.9}
{"id": "UniProtKB:Q8IW36-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 695 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8IW36-4", "PR:Q8IW36-4", "ENSEMBL:ENSP00000341236", "ENSEMBL:ENSP00000341236.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBG7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "recombining binding protein suppressor of hairless-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBG7-1", "PR:Q9UBG7-1", "ENSEMBL:ENSP00000341243", "ENSEMBL:ENSP00000341243.3"], "information_content": 100.0}
{"id": "NCBIGene:23708", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSPT2", "equivalent_identifiers": ["NCBIGene:23708", "ENSEMBL:ENSG00000189369", "HGNC:4622", "OMIM:300418", "UMLS:C1415325", "UniProtKB:Q8IYD1", "PR:Q8IYD1", "ENSEMBL:ENSP00000341247", "ENSEMBL:ENSP00000341247.4", "UMLS:C0906221"], "information_content": 100.0}
{"id": "UniProtKB:Q15628-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor type 1-associated DEATH domain protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15628-1", "PR:Q15628-1", "ENSEMBL:ENSP00000341268", "ENSEMBL:ENSP00000341268.4"], "information_content": 100.0}
{"id": "UniProtKB:Q92833-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Jumonji isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92833-1", "PR:Q92833-1", "ENSEMBL:ENSP00000341280", "ENSEMBL:ENSP00000341280.2"], "information_content": 100.0}
{"id": "NCBIGene:10383", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBB4B", "equivalent_identifiers": ["NCBIGene:10383", "ENSEMBL:ENSG00000188229", "HGNC:20771", "OMIM:602660", "UMLS:C1823554", "UniProtKB:P68371", "PR:P68371", "ENSEMBL:ENSP00000341289", "ENSEMBL:ENSP00000341289.4", "UMLS:C4549448", "MESH:C000625758"], "information_content": 85.5}
{"id": "UniProtKB:Q9H4A3-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase WNK1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4A3-5", "PR:Q9H4A3-5", "ENSEMBL:ENSP00000341292", "ENSEMBL:ENSP00000341292.5"], "information_content": 100.0}
{"id": "NCBIGene:89857", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHL6", "equivalent_identifiers": ["NCBIGene:89857", "ENSEMBL:ENSG00000172578", "HGNC:18653", "OMIM:614214", "UMLS:C1425680", "UniProtKB:Q8WZ60", "PR:Q8WZ60", "ENSEMBL:ENSP00000341342", "ENSEMBL:ENSP00000341342.3", "UMLS:C1175920", "UMLS:C3274821", "MESH:C473356"], "information_content": 83.6}
{"id": "NCBIGene:83659", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEKT1", "equivalent_identifiers": ["NCBIGene:83659", "ENSEMBL:ENSG00000167858", "HGNC:15534", "OMIM:609002", "UMLS:C1423561", "UniProtKB:Q969V4", "PR:Q969V4", "ENSEMBL:ENSP00000341346", "ENSEMBL:ENSP00000341346.2", "UMLS:C1100860"], "information_content": 95.4}
{"id": "MONDO:0010068", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, sponastrime type", "equivalent_identifiers": ["MONDO:0010068", "DOID:5684", "OMIM:271510", "orphanet:93357", "UMLS:C0920349", "UMLS:C1300260", "MESH:C535786", "NCIT:C129031", "NCIT:C92206", "SNOMEDCT:389161008", "medgen:266247"], "information_content": 100.0}
{"id": "UniProtKB:Q96JK2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DDB1- and CUL4-associated factor 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JK2-1", "PR:Q96JK2-1", "ENSEMBL:ENSP00000341351", "ENSEMBL:ENSP00000341351.5"], "information_content": 100.0}
{"id": "UniProtKB:O43567-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF13 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43567-1", "PR:O43567-1", "ENSEMBL:ENSP00000341361", "ENSEMBL:ENSP00000341361.3", "ENSEMBL:ENSP00000376628", "ENSEMBL:ENSP00000376628.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96A57-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 230 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96A57-1", "PR:Q96A57-1", "ENSEMBL:ENSP00000202834", "ENSEMBL:ENSP00000202834.7", "ENSEMBL:ENSP00000341364", "ENSEMBL:ENSP00000341364.6", "ENSEMBL:ENSP00000368579", "ENSEMBL:ENSP00000368579.2", "ENSEMBL:ENSP00000368581", "ENSEMBL:ENSP00000368581.2", "ENSEMBL:ENSP00000368585", "ENSEMBL:ENSP00000368585.2", "ENSEMBL:ENSP00000368588", "ENSEMBL:ENSP00000368588.2", "ENSEMBL:ENSP00000368601", "ENSEMBL:ENSP00000368601.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5T0Z8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C6orf132 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T0Z8-1", "PR:Q5T0Z8-1", "ENSEMBL:ENSP00000341368", "ENSEMBL:ENSP00000341368.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NTJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "structural maintenance of chromosomes protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NTJ3-1", "PR:Q9NTJ3-1", "ENSEMBL:ENSP00000341382", "ENSEMBL:ENSP00000341382.5", "ENSEMBL:ENSP00000349961", "ENSEMBL:ENSP00000349961.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXG6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane prolyl 4-hydroxylase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXG6-3", "PR:Q9NXG6-3", "ENSEMBL:ENSP00000341422", "ENSEMBL:ENSP00000341422.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6Z4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ran-binding protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6Z4-1", "PR:Q9H6Z4-1", "ENSEMBL:ENSP00000341483", "ENSEMBL:ENSP00000341483.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZW31-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein SYDE1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZW31-1", "PR:Q6ZW31-1", "ENSEMBL:ENSP00000341489", "ENSEMBL:ENSP00000341489.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6H9L7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "isthmin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6H9L7-1", "PR:Q6H9L7-1", "ENSEMBL:ENSP00000341490", "ENSEMBL:ENSP00000341490.4"], "information_content": 100.0}
{"id": "UniProtKB:Q14141-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "septin-6 isoform II (human)", "equivalent_identifiers": ["UniProtKB:Q14141-1", "PR:Q14141-1", "ENSEMBL:ENSP00000341524", "ENSEMBL:ENSP00000341524.5"], "information_content": 100.0}
{"id": "NCBIGene:123103", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHL33", "equivalent_identifiers": ["NCBIGene:123103", "ENSEMBL:ENSG00000185271", "HGNC:31952", "UMLS:C2239566", "UniProtKB:A0A1B0GUB7", "ENSEMBL:ENSP00000490040", "ENSEMBL:ENSP00000490040.1", "ENSEMBL:ENSP00000517333", "ENSEMBL:ENSP00000517333.1", "UniProtKB:A6NCF5", "PR:A6NCF5", "ENSEMBL:ENSP00000341549", "ENSEMBL:ENSP00000341549.4", "ENSEMBL:ENSP00000517335", "ENSEMBL:ENSP00000517335.1", "UMLS:C5202837", "UniProtKB:B2RUZ8"], "information_content": 100.0}
{"id": "MONDO:0014138", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 8", "equivalent_identifiers": ["MONDO:0014138", "DOID:0110930", "OMIM:615348", "UMLS:C3809209", "NCIT:C129871", "medgen:815539"], "information_content": 100.0}
{"id": "UniProtKB:Q71RS6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/potassium/calcium exchanger 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q71RS6-1", "PR:Q71RS6-1", "ENSEMBL:ENSP00000341550", "ENSEMBL:ENSP00000341550.3"], "information_content": 100.0}
{"id": "NCBIGene:4089", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMAD4", "equivalent_identifiers": ["NCBIGene:4089", "ENSEMBL:ENSG00000141646", "HGNC:6770", "OMIM:600993", "UMLS:C0694891", "UniProtKB:A0A024R274", "UniProtKB:Q13485", "PR:Q13485", "ENSEMBL:ENSP00000341551", "ENSEMBL:ENSP00000341551.3", "ENSEMBL:ENSP00000381452", "ENSEMBL:ENSP00000381452.1", "ENSEMBL:ENSP00000464772", "ENSEMBL:ENSP00000464772.2", "ENSEMBL:ENSP00000465874", "ENSEMBL:ENSP00000465874.2", "ENSEMBL:ENSP00000465878", "ENSEMBL:ENSP00000465878.2", "ENSEMBL:ENSP00000466934", "ENSEMBL:ENSP00000466934.2", "UMLS:C0385939", "MESH:C497796"], "information_content": 69.4}
{"id": "UniProtKB:Q00973-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q00973-1", "PR:Q00973-1", "ENSEMBL:ENSP00000341562", "ENSEMBL:ENSP00000341562.4"], "information_content": 100.0}
{"id": "NCBIGene:344838", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAQR9", "equivalent_identifiers": ["NCBIGene:344838", "ENSEMBL:ENSG00000188582", "HGNC:30131", "OMIM:614580", "UMLS:C1538575", "UniProtKB:Q6ZVX9", "PR:Q6ZVX9", "ENSEMBL:ENSP00000341564", "ENSEMBL:ENSP00000341564.4", "UMLS:C2606946", "MESH:C532495"], "information_content": 100.0}
{"id": "UniProtKB:Q6SJ93-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine protease FAM111B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6SJ93-1", "PR:Q6SJ93-1", "ENSEMBL:ENSP00000341565", "ENSEMBL:ENSP00000341565.3", "ENSEMBL:ENSP00000483456", "ENSEMBL:ENSP00000483456.1"], "information_content": 100.0}
{"id": "NCBIGene:10827", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM114A2", "equivalent_identifiers": ["NCBIGene:10827", "ENSEMBL:ENSG00000055147", "HGNC:1333", "UMLS:C1413008", "UniProtKB:A0A140VKG4", "UMLS:C5226075", "MESH:C000656449", "UniProtKB:B3KTE4", "UniProtKB:B4DQT0", "UniProtKB:E7ESJ7", "ENSEMBL:ENSP00000429088", "ENSEMBL:ENSP00000429088.1", "UniProtKB:I6L9D5", "UniProtKB:Q9NRY5", "PR:Q9NRY5", "ENSEMBL:ENSP00000341597", "ENSEMBL:ENSP00000341597.4", "ENSEMBL:ENSP00000430384", "ENSEMBL:ENSP00000430384.1", "ENSEMBL:ENSP00000430489", "ENSEMBL:ENSP00000430489.1"], "information_content": 100.0}
{"id": "NCBIGene:84419", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COXFA4L3", "equivalent_identifiers": ["NCBIGene:84419", "ENSEMBL:ENSG00000166920", "HGNC:29898", "OMIM:608409", "UMLS:C1824410", "UniProtKB:Q9C002", "PR:Q9C002", "ENSEMBL:ENSP00000341610", "ENSEMBL:ENSP00000341610.3", "ENSEMBL:ENSP00000379887", "ENSEMBL:ENSP00000379887.2", "UMLS:C1143662", "MESH:C465665"], "information_content": 95.4}
{"id": "UniProtKB:P00167-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome b5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P00167-1", "PR:P00167-1", "ENSEMBL:ENSP00000341625", "ENSEMBL:ENSP00000341625.4"], "information_content": 95.4}
{"id": "NCBIGene:374383", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCR3LG1", "equivalent_identifiers": ["NCBIGene:374383", "ENSEMBL:ENSG00000188211", "HGNC:42400", "OMIM:613714", "UMLS:C3150976", "UniProtKB:Q68D85", "PR:Q68D85", "ENSEMBL:ENSP00000341637", "ENSEMBL:ENSP00000341637.4", "ENSEMBL:ENSP00000434394", "ENSEMBL:ENSP00000434394.1", "UMLS:C2717358", "MESH:C542363"], "information_content": 92.8}
{"id": "UniProtKB:Q9P016-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thymocyte nuclear protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P016-1", "PR:Q9P016-1", "ENSEMBL:ENSP00000341657", "ENSEMBL:ENSP00000341657.3", "ENSEMBL:ENSP00000376373", "ENSEMBL:ENSP00000376373.3", "ENSEMBL:ENSP00000376374", "ENSEMBL:ENSP00000376374.2"], "information_content": 100.0}
{"id": "MONDO:0007052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "growth hormone secreting pituitary adenoma 1", "equivalent_identifiers": ["MONDO:0007052", "DOID:0112009", "OMIM:102200", "EFO:0004125", "UMLS:C1863340", "UMLS:C3489630", "UMLS:C4521132", "UMLS:C4538355", "medgen:1618709"], "information_content": 100.0}
{"id": "NCBIGene:392636", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGMO", "equivalent_identifiers": ["NCBIGene:392636", "ENSEMBL:ENSG00000187546", "HGNC:33784", "OMIM:613738", "UMLS:C2240102", "UniProtKB:Q6ZNB7", "PR:Q6ZNB7", "ENSEMBL:ENSP00000341662", "ENSEMBL:ENSP00000341662.3", "UniProtKB:X5D773"], "information_content": 100.0}
{"id": "UniProtKB:Q96EV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dysbindin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EV8-1", "PR:Q96EV8-1", "ENSEMBL:ENSP00000341680", "ENSEMBL:ENSP00000341680.6"], "information_content": 100.0}
{"id": "NCBIGene:80071", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC15", "equivalent_identifiers": ["NCBIGene:80071", "ENSEMBL:ENSG00000149548", "HGNC:25798", "OMIM:621146", "UMLS:C1539073", "UniProtKB:Q0P6D6", "PR:Q0P6D6", "ENSEMBL:ENSP00000341684", "ENSEMBL:ENSP00000341684.5"], "information_content": 100.0}
{"id": "UniProtKB:O43768-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-endosulfine isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O43768-3", "PR:O43768-3", "ENSEMBL:ENSP00000341743", "ENSEMBL:ENSP00000341743.5"], "information_content": 100.0}
{"id": "NCBIGene:83893", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA16", "equivalent_identifiers": ["NCBIGene:83893", "ENSEMBL:ENSG00000144962", "HGNC:29935", "OMIM:609856", "UMLS:C1539811", "UniProtKB:A0A140VJV8", "UMLS:C1258560", "MESH:C474264", "UniProtKB:Q9BXB7", "PR:Q9BXB7", "ENSEMBL:ENSP00000341765", "ENSEMBL:ENSP00000341765.3"], "information_content": 100.0}
{"id": "UniProtKB:P36873-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase PP1-gamma catalytic subunit isoform Gamma-2 (human)", "equivalent_identifiers": ["UniProtKB:P36873-2", "PR:P36873-2", "ENSEMBL:ENSP00000341779", "ENSEMBL:ENSP00000341779.5"], "information_content": 100.0}
{"id": "NCBIGene:51094", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADIPOR1", "equivalent_identifiers": ["NCBIGene:51094", "ENSEMBL:ENSG00000159346", "HGNC:24040", "OMIM:607945", "UMLS:C1540188", "UniProtKB:Q96A54", "PR:Q96A54", "ENSEMBL:ENSP00000341785", "ENSEMBL:ENSP00000341785.5", "UMLS:C1259439", "UMLS:C3537284", "MESH:C475418"], "information_content": 92.8}
{"id": "UniProtKB:Q6UXE8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "butyrophilin-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXE8-1", "PR:Q6UXE8-1", "ENSEMBL:ENSP00000341787", "ENSEMBL:ENSP00000341787.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PHD finger protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUB8-1", "PR:Q8WUB8-1", "ENSEMBL:ENSP00000341805", "ENSEMBL:ENSP00000341805.4"], "information_content": 100.0}
{"id": "NCBIGene:54345", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOX18", "equivalent_identifiers": ["NCBIGene:54345", "ENSEMBL:ENSG00000203883", "HGNC:11194", "OMIM:601618", "UMLS:C1420321", "UniProtKB:P35713", "PR:P35713", "ENSEMBL:ENSP00000341815", "ENSEMBL:ENSP00000341815.7", "UMLS:C1448935", "MESH:C095473"], "information_content": 100.0}
{"id": "NCBIGene:2359", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FPR3", "equivalent_identifiers": ["NCBIGene:2359", "ENSEMBL:ENSG00000187474", "HGNC:3828", "OMIM:136539", "UMLS:C1414692", "UniProtKB:P25089", "PR:P25089", "ENSEMBL:ENSP00000341821", "ENSEMBL:ENSP00000341821.3", "ENSEMBL:ENSP00000470471", "ENSEMBL:ENSP00000470471.1", "UMLS:C1257760", "MESH:C469985", "UniProtKB:Q6L5J4"], "information_content": 100.0}
{"id": "UniProtKB:P09651-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein A1 isoform hA1-B (human)", "equivalent_identifiers": ["UniProtKB:P09651-1", "PR:P09651-1", "ENSEMBL:ENSP00000341826", "ENSEMBL:ENSP00000341826.7", "ENSEMBL:ENSP00000503610", "ENSEMBL:ENSP00000503610.1"], "information_content": 100.0}
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{"id": "UniProtKB:Q9Y603-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor ETV7 isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q9Y603-1", "PR:Q9Y603-1", "ENSEMBL:ENSP00000341843", "ENSEMBL:ENSP00000341843.4"], "information_content": 100.0}
{"id": "UniProtKB:O14730-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase RIO3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14730-1", "PR:O14730-1", "ENSEMBL:ENSP00000341874", "ENSEMBL:ENSP00000341874.3"], "information_content": 100.0}
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{"id": "UniProtKB:Q86YV0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RAS protein activator like-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YV0-1", "PR:Q86YV0-1", "ENSEMBL:ENSP00000341905", "ENSEMBL:ENSP00000341905.5"], "information_content": 100.0}
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{"id": "NCBIGene:344905", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP13A5", "equivalent_identifiers": ["NCBIGene:344905", "ENSEMBL:ENSG00000187527", "HGNC:31789", "OMIM:619119", "UMLS:C1540218", "UniProtKB:Q4VNC0", "PR:Q4VNC0", "ENSEMBL:ENSP00000341942", "ENSEMBL:ENSP00000341942.4"], "information_content": 100.0}
{"id": "MONDO:0007496", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 12", "equivalent_identifiers": ["MONDO:0007496", "DOID:0090056", "OMIM:128235", "orphanet:71517", "UMLS:C1868681", "MESH:C538001", "MEDDRA:10083658", "NCIT:C157577", "SNOMEDCT:702323008", "medgen:358384"], "information_content": 100.0}
{"id": "NCBIGene:339977", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC66", "equivalent_identifiers": ["NCBIGene:339977", "ENSEMBL:ENSG00000188993", "HGNC:34299", "UMLS:C2681646", "UniProtKB:Q68CR7", "PR:Q68CR7", "ENSEMBL:ENSP00000341944", "ENSEMBL:ENSP00000341944.3", "ENSEMBL:ENSP00000508002", "ENSEMBL:ENSP00000508002.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6MZP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein lin-54 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6MZP7-1", "PR:Q6MZP7-1", "ENSEMBL:ENSP00000341947", "ENSEMBL:ENSP00000341947.3", "ENSEMBL:ENSP00000425844", "ENSEMBL:ENSP00000425844.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13625-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptosis-stimulating of p53 protein 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q13625-3", "PR:Q13625-3", "ENSEMBL:ENSP00000341957", "ENSEMBL:ENSP00000341957.7"], "information_content": 100.0}
{"id": "NCBIGene:286380", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXD4L3", "equivalent_identifiers": ["NCBIGene:286380", "ENSEMBL:ENSG00000187559", "HGNC:18523", "OMIM:611086", "UMLS:C1425575", "UniProtKB:Q6VB84", "PR:Q6VB84", "ENSEMBL:ENSP00000341961", "ENSEMBL:ENSP00000341961.2"], "information_content": 100.0}
{"id": "MONDO:0013312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 55", "equivalent_identifiers": ["MONDO:0013312", "DOID:0110370", "OMIM:613575", "UMLS:C3150808", "medgen:462158"], "information_content": 100.0}
{"id": "NCBIGene:6248", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RSC1A1", "equivalent_identifiers": ["NCBIGene:6248", "ENSEMBL:ENSG00000215695", "HGNC:10458", "OMIM:601966", "UMLS:C1419765", "UniProtKB:Q92681", "PR:Q92681", "ENSEMBL:ENSP00000341963", "ENSEMBL:ENSP00000341963.1", "UMLS:C1307778", "MESH:C101014"], "information_content": 100.0}
{"id": "UniProtKB:P60323-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nanos homolog 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P60323-2", "PR:P60323-2", "ENSEMBL:ENSP00000341992", "ENSEMBL:ENSP00000341992.4", "ENSEMBL:ENSP00000500242", "ENSEMBL:ENSP00000500242.1"], "information_content": 100.0}
{"id": "UniProtKB:P35789-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 93 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35789-1", "PR:P35789-1", "ENSEMBL:ENSP00000342002", "ENSEMBL:ENSP00000342002.4"], "information_content": 100.0}
{"id": "NCBIGene:1544", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP1A2", "equivalent_identifiers": ["NCBIGene:1544", "ENSEMBL:ENSG00000140505", "HGNC:2596", "OMIM:124060", "UMLS:C1332826", "UniProtKB:P05177", "PR:P05177", "ENSEMBL:ENSP00000342007", "ENSEMBL:ENSP00000342007.4", "UMLS:C1620185", "MESH:C504573"], "information_content": 95.4}
{"id": "UniProtKB:Q6E0U4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dermokine isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6E0U4-1", "PR:Q6E0U4-1", "ENSEMBL:ENSP00000342012", "ENSEMBL:ENSP00000342012.3"], "information_content": 100.0}
{"id": "NCBIGene:90639", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX19", "equivalent_identifiers": ["NCBIGene:90639", "ENSEMBL:ENSG00000240230", "HGNC:28074", "OMIM:610429", "UMLS:C1824783", "UniProtKB:Q49B96", "PR:Q49B96", "ENSEMBL:ENSP00000342015", "ENSEMBL:ENSP00000342015.3", "UMLS:C1664684", "MESH:C506211"], "information_content": 95.4}
{"id": "UniProtKB:O75820-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 189 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75820-1", "PR:O75820-1", "ENSEMBL:ENSP00000342019", "ENSEMBL:ENSP00000342019.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6PIJ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 38 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PIJ6-1", "PR:Q6PIJ6-1", "ENSEMBL:ENSP00000342023", "ENSEMBL:ENSP00000342023.6"], "information_content": 100.0}
{"id": "NCBIGene:9588", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRDX6", "equivalent_identifiers": ["NCBIGene:9588", "ENSEMBL:ENSG00000117592", "HGNC:16753", "OMIM:602316", "UMLS:C1424518", "UniProtKB:P30041", "PR:P30041", "ENSEMBL:ENSP00000342026", "ENSEMBL:ENSP00000342026.5", "UMLS:C1434504", "MESH:C515977", "UniProtKB:V9HWC7"], "information_content": 88.2}
{"id": "MONDO:0005776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gnathomiasis", "equivalent_identifiers": ["MONDO:0005776", "DOID:11379", "EFO:0007289", "UMLS:C0018013", "MESH:D058429", "MEDDRA:10018490", "NCIT:C128395", "SNOMEDCT:44086001", "medgen:6651", "ICD10:B83.1", "ICD9:128.1"], "information_content": 100.0}
{"id": "NCBIGene:1431", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CS", "equivalent_identifiers": ["NCBIGene:1431", "ENSEMBL:ENSG00000062485", "HGNC:2422", "OMIM:118950", "UMLS:C1413745", "UniProtKB:O75390", "PR:O75390", "ENSEMBL:ENSP00000342056", "ENSEMBL:ENSP00000342056.3"], "information_content": 85.5}
{"id": "NCBIGene:6590", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLPI", "equivalent_identifiers": ["NCBIGene:6590", "ENSEMBL:ENSG00000124107", "HGNC:11092", "OMIM:107285", "UMLS:C1366565", "UniProtKB:P03973", "PR:P03973", "ENSEMBL:ENSP00000342082", "ENSEMBL:ENSP00000342082.2", "UMLS:C0663932", "MESH:C506814"], "information_content": 95.4}
{"id": "NCBIGene:29991", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OBP2A", "equivalent_identifiers": ["NCBIGene:29991", "ENSEMBL:ENSG00000122136", "HGNC:23380", "OMIM:164320", "UMLS:C1428059", "UniProtKB:B7ZLH4", "UMLS:C1723760", "MESH:C509994", "UniProtKB:Q5T8A4", "ENSEMBL:ENSP00000340950", "ENSEMBL:ENSP00000340950.4", "UniProtKB:Q5T8A5", "ENSEMBL:ENSP00000342097", "ENSEMBL:ENSP00000342097.3", "UniProtKB:Q9NY56", "PR:Q9NY56"]}
{"id": "UniProtKB:O43278-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Kunitz-type protease inhibitor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43278-1", "PR:O43278-1", "ENSEMBL:ENSP00000342098", "ENSEMBL:ENSP00000342098.4"], "information_content": 100.0}
{"id": "UniProtKB:Q92630-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity tyrosine-phosphorylation-regulated kinase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92630-1", "PR:Q92630-1", "ENSEMBL:ENSP00000342105", "ENSEMBL:ENSP00000342105.4"], "information_content": 100.0}
{"id": "NCBIGene:145264", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINA12", "equivalent_identifiers": ["NCBIGene:145264", "ENSEMBL:ENSG00000165953", "HGNC:18359", "OMIM:617471", "UMLS:C1539754", "UniProtKB:Q8IW75", "PR:Q8IW75", "ENSEMBL:ENSP00000342109", "ENSEMBL:ENSP00000342109.2", "ENSEMBL:ENSP00000451738", "ENSEMBL:ENSP00000451738.1", "ENSEMBL:ENSP00000503935", "ENSEMBL:ENSP00000503935.1", "UMLS:C1663610", "MESH:C507339"], "information_content": 100.0}
{"id": "UniProtKB:Q14773-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intercellular adhesion molecule 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q14773-3", "PR:Q14773-3", "ENSEMBL:ENSP00000342114", "ENSEMBL:ENSP00000342114.3"], "information_content": 100.0}
{"id": "UniProtKB:O43889-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic AMP-responsive element-binding protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43889-2", "PR:O43889-2", "ENSEMBL:ENSP00000342136", "ENSEMBL:ENSP00000342136.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5T2W1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T2W1-1", "PR:Q5T2W1-1", "ENSEMBL:ENSP00000342143", "ENSEMBL:ENSP00000342143.2", "ENSEMBL:ENSP00000394485", "ENSEMBL:ENSP00000394485.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86UK5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "limbin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UK5-1", "PR:Q86UK5-1", "ENSEMBL:ENSP00000342144", "ENSEMBL:ENSP00000342144.5"], "information_content": 100.0}
{"id": "NCBIGene:56900", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM167B", "equivalent_identifiers": ["NCBIGene:56900", "ENSEMBL:ENSG00000215717", "HGNC:30187", "UMLS:C1823739", "UniProtKB:A0A494C0V7", "ENSEMBL:ENSP00000498719", "ENSEMBL:ENSP00000498719.1", "UniProtKB:Q9NRX6", "PR:Q9NRX6", "ENSEMBL:ENSP00000342148", "ENSEMBL:ENSP00000342148.7"], "information_content": 90.9}
{"id": "UniProtKB:O14931-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "natural cytotoxicity triggering receptor 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14931-1", "PR:O14931-1", "ENSEMBL:ENSP00000342156", "ENSEMBL:ENSP00000342156.5", "ENSEMBL:ENSP00000372969", "ENSEMBL:ENSP00000372969.4", "ENSEMBL:ENSP00000389071", "ENSEMBL:ENSP00000389071.2", "ENSEMBL:ENSP00000390131", "ENSEMBL:ENSP00000390131.2", "ENSEMBL:ENSP00000398313", "ENSEMBL:ENSP00000398313.2", "ENSEMBL:ENSP00000405306", "ENSEMBL:ENSP00000405306.2", "ENSEMBL:ENSP00000416035", "ENSEMBL:ENSP00000416035.2", "ENSEMBL:ENSP00000416944", "ENSEMBL:ENSP00000416944.2"], "information_content": 100.0}
{"id": "NCBIGene:100130519", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM221", "equivalent_identifiers": ["NCBIGene:100130519", "ENSEMBL:ENSG00000188051", "HGNC:21943", "UMLS:C2680486", "UniProtKB:A6NGB7", "PR:A6NGB7", "ENSEMBL:ENSP00000342162", "ENSEMBL:ENSP00000342162.5"], "information_content": 100.0}
{"id": "MONDO:0011502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wolfram syndrome 2", "equivalent_identifiers": ["MONDO:0011502", "DOID:0110630", "OMIM:604928", "UMLS:C1858028", "MESH:C565733", "medgen:347604"], "information_content": 100.0}
{"id": "NCBIGene:344657", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRIQ4", "equivalent_identifiers": ["NCBIGene:344657", "ENSEMBL:ENSG00000188306", "HGNC:34298", "UMLS:C2681650", "UniProtKB:A6NIV6", "PR:A6NIV6", "ENSEMBL:ENSP00000342188", "ENSEMBL:ENSP00000342188.6"], "information_content": 100.0}
{"id": "MONDO:0017774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypobetalipoproteinemia", "equivalent_identifiers": ["MONDO:0017774", "DOID:1390", "orphanet:31154", "UMLS:C0020597", "UMLS:C0853085", "MESH:D006995", "MEDDRA:10011972", "MEDDRA:10024058", "MEDDRA:10024904", "MEDDRA:10024907", "MEDDRA:10024909", "MEDDRA:10024917", "SNOMEDCT:190786004", "medgen:6978", "icd11.foundation:1934975006", "HP:0003563"], "information_content": 89.4}
{"id": "UniProtKB:Q6UX41-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "butyrophilin-like protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UX41-1", "PR:Q6UX41-1", "ENSEMBL:ENSP00000342197", "ENSEMBL:ENSP00000342197.4"], "information_content": 100.0}
{"id": "UniProtKB:P43628-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "killer cell immunoglobulin-like receptor 2DL3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43628-1", "PR:P43628-1", "ENSEMBL:ENSP00000342215", "ENSEMBL:ENSP00000342215.3", "ENSEMBL:ENSP00000478657", "ENSEMBL:ENSP00000478657.1", "ENSEMBL:ENSP00000479121", "ENSEMBL:ENSP00000479121.1", "ENSEMBL:ENSP00000480087", "ENSEMBL:ENSP00000480087.1", "ENSEMBL:ENSP00000480464", "ENSEMBL:ENSP00000480464.1", "ENSEMBL:ENSP00000481237", "ENSEMBL:ENSP00000481237.1", "ENSEMBL:ENSP00000481355", "ENSEMBL:ENSP00000481355.1", "ENSEMBL:ENSP00000481478", "ENSEMBL:ENSP00000481478.1", "ENSEMBL:ENSP00000482830", "ENSEMBL:ENSP00000482830.1", "ENSEMBL:ENSP00000483192", "ENSEMBL:ENSP00000483192.1", "ENSEMBL:ENSP00000483419", "ENSEMBL:ENSP00000483419.1", "ENSEMBL:ENSP00000483551", "ENSEMBL:ENSP00000483551.1", "ENSEMBL:ENSP00000483883", "ENSEMBL:ENSP00000483883.1", "ENSEMBL:ENSP00000483975", "ENSEMBL:ENSP00000483975.1", "ENSEMBL:ENSP00000484459", "ENSEMBL:ENSP00000484459.1", "ENSEMBL:ENSP00000491264", "ENSEMBL:ENSP00000491264.1", "ENSEMBL:ENSP00000491273", "ENSEMBL:ENSP00000491273.1", "ENSEMBL:ENSP00000491452", "ENSEMBL:ENSP00000491452.1", "ENSEMBL:ENSP00000491955", "ENSEMBL:ENSP00000491955.1", "ENSEMBL:ENSP00000492356", "ENSEMBL:ENSP00000492356.1", "ENSEMBL:ENSP00000492856", "ENSEMBL:ENSP00000492856.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUA7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family A member 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUA7-1", "PR:Q8IUA7-1", "ENSEMBL:ENSP00000342216", "ENSEMBL:ENSP00000342216.3"], "information_content": 100.0}
{"id": "MONDO:0033005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Galloway-Mowat syndrome 1", "equivalent_identifiers": ["MONDO:0033005", "DOID:0060364", "OMIM:251300", "UMLS:C4551772", "medgen:1634188"], "information_content": 100.0}
{"id": "NCBIGene:51393", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRPV2", "equivalent_identifiers": ["NCBIGene:51393", "ENSEMBL:ENSG00000187688", "HGNC:18082", "OMIM:606676", "UMLS:C1425290", "UniProtKB:Q9Y5S1", "PR:Q9Y5S1", "ENSEMBL:ENSP00000342222", "ENSEMBL:ENSP00000342222.7", "UMLS:C1438579", "MESH:C400769"], "information_content": 89.4}
{"id": "UniProtKB:Q15303-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor tyrosine-protein kinase erbB-4 isoform JM-A CYT-1 (human)", "equivalent_identifiers": ["UniProtKB:Q15303-1", "PR:Q15303-1", "ENSEMBL:ENSP00000342235", "ENSEMBL:ENSP00000342235.4"], "information_content": 92.8}
{"id": "UniProtKB:Q8NFH3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoporin Nup43 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFH3-1", "PR:Q8NFH3-1", "ENSEMBL:ENSP00000342262", "ENSEMBL:ENSP00000342262.2"], "information_content": 100.0}
{"id": "NCBIGene:10166", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A15", "equivalent_identifiers": ["NCBIGene:10166", "ENSEMBL:ENSG00000102743", "HGNC:10985", "OMIM:603861", "UMLS:C1420156", "UniProtKB:Q9Y619", "PR:Q9Y619", "ENSEMBL:ENSP00000342267", "ENSEMBL:ENSP00000342267.4", "ENSEMBL:ENSP00000516711", "ENSEMBL:ENSP00000516711.1", "UMLS:C1448218", "MESH:C442901"], "information_content": 95.4}
{"id": "UniProtKB:Q96RF0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RF0-1", "PR:Q96RF0-1", "ENSEMBL:ENSP00000342276", "ENSEMBL:ENSP00000342276.7"], "information_content": 100.0}
{"id": "UniProtKB:P29728-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2'-5'-oligoadenylate synthase 2 isoform hp71 (human)", "equivalent_identifiers": ["UniProtKB:P29728-1", "PR:P29728-1", "ENSEMBL:ENSP00000342278", "ENSEMBL:ENSP00000342278.4"], "information_content": 100.0}
{"id": "UniProtKB:Q3KP44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 55 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3KP44-1", "PR:Q3KP44-1", "ENSEMBL:ENSP00000342295", "ENSEMBL:ENSP00000342295.4"], "information_content": 100.0}
{"id": "UniProtKB:Q08050-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein M1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q08050-3", "PR:Q08050-3", "ENSEMBL:ENSP00000342307", "ENSEMBL:ENSP00000342307.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96NU1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sterile alpha motif domain-containing protein 11 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96NU1-3", "PR:Q96NU1-3", "ENSEMBL:ENSP00000342313", "ENSEMBL:ENSP00000342313.3"], "information_content": 100.0}
{"id": "NCBIGene:51768", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TM7SF3", "equivalent_identifiers": ["NCBIGene:51768", "ENSEMBL:ENSG00000064115", "HGNC:23049", "OMIM:605181", "UMLS:C1427874", "UniProtKB:Q9NS93", "PR:Q9NS93", "ENSEMBL:ENSP00000342322", "ENSEMBL:ENSP00000342322.4", "UMLS:C1309524", "MESH:C409878"], "information_content": 92.8}
{"id": "NCBIGene:119032", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BORCS7", "equivalent_identifiers": ["NCBIGene:119032", "ENSEMBL:ENSG00000166275", "HGNC:23516", "OMIM:616600", "UMLS:C1428118", "UniProtKB:Q96B45", "PR:Q96B45", "ENSEMBL:ENSP00000342331", "ENSEMBL:ENSP00000342331.5", "ENSEMBL:ENSP00000358899", "ENSEMBL:ENSP00000358899.3"], "information_content": 100.0}
{"id": "NCBIGene:389558", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM180A", "equivalent_identifiers": ["NCBIGene:389558", "ENSEMBL:ENSG00000189320", "HGNC:33773", "UMLS:C2681511", "UniProtKB:Q6UWF9", "PR:Q6UWF9", "ENSEMBL:ENSP00000342336", "ENSEMBL:ENSP00000342336.3", "ENSEMBL:ENSP00000395467", "ENSEMBL:ENSP00000395467.1", "ENSEMBL:ENSP00000406553", "ENSEMBL:ENSP00000406553.1"], "information_content": 95.4}
{"id": "MONDO:0004301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrosarcomatous osteosarcoma", "equivalent_identifiers": ["MONDO:0004301", "DOID:7603", "UMLS:C0279602", "NCIT:C4020", "SNOMEDCT:12690005", "medgen:79012"], "information_content": 100.0}
{"id": "MONDO:0002627", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondroblastic osteosarcoma", "equivalent_identifiers": ["MONDO:0002627", "DOID:3372", "UMLS:C0279603", "MEDDRA:10008740", "NCIT:C4021", "SNOMEDCT:76312009", "medgen:79013"], "information_content": 100.0}
{"id": "MONDO:0005921", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Malaria, Vivax", "equivalent_identifiers": ["MONDO:0005921", "DOID:12978", "EFO:0007445", "UMLS:C0024537", "MESH:D016780", "MEDDRA:10043288", "MEDDRA:10047664", "MEDDRA:10047665", "NCIT:C34800", "SNOMEDCT:27052006", "medgen:6186", "ICD10:B51", "ICD9:084.1"], "information_content": 100.0}
{"id": "UniProtKB:Q16656-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear respiratory factor 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q16656-4", "PR:Q16656-4", "ENSEMBL:ENSP00000309826", "ENSEMBL:ENSP00000309826.2", "ENSEMBL:ENSP00000342351", "ENSEMBL:ENSP00000342351.5"], "information_content": 100.0}
{"id": "UniProtKB:P62316-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small nuclear ribonucleoprotein Sm D2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62316-1", "PR:P62316-1", "ENSEMBL:ENSP00000342374", "ENSEMBL:ENSP00000342374.2", "ENSEMBL:ENSP00000465216", "ENSEMBL:ENSP00000465216.1"], "information_content": 100.0}
{"id": "NCBIGene:9536", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTGES", "equivalent_identifiers": ["NCBIGene:9536", "ENSEMBL:ENSG00000148344", "HGNC:9599", "OMIM:605172", "UMLS:C1419067", "UniProtKB:O14684", "PR:O14684", "ENSEMBL:ENSP00000342385", "ENSEMBL:ENSP00000342385.4", "UMLS:C4082268", "UMLS:C4308045", "MESH:C000605862"], "information_content": 100.0}
{"id": "NCBIGene:145873", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MESP2", "equivalent_identifiers": ["NCBIGene:145873", "ENSEMBL:ENSG00000188095", "HGNC:29659", "OMIM:605195", "UMLS:C1825969", "UniProtKB:Q0VG99", "PR:Q0VG99", "ENSEMBL:ENSP00000342392", "ENSEMBL:ENSP00000342392.3", "UMLS:C3492587", "MESH:C572576"], "information_content": 100.0}
{"id": "MONDO:0013380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LEOPARD syndrome 3", "equivalent_identifiers": ["MONDO:0013380", "DOID:0080550", "OMIM:613707", "UMLS:C3150971", "medgen:462321"], "information_content": 100.0}
{"id": "UniProtKB:Q9UIG0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase BAZ1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIG0-1", "PR:Q9UIG0-1", "ENSEMBL:ENSP00000342434", "ENSEMBL:ENSP00000342434.4", "ENSEMBL:ENSP00000385442", "ENSEMBL:ENSP00000385442.1"], "information_content": 100.0}
{"id": "NCBIGene:390148", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5W2", "equivalent_identifiers": ["NCBIGene:390148", "ENSEMBL:ENSG00000187612", "HGNC:15299", "UMLS:C1423384", "UniProtKB:Q8NH69", "PR:Q8NH69", "ENSEMBL:ENSP00000342448", "ENSEMBL:ENSP00000342448.1"], "information_content": 100.0}
{"id": "UniProtKB:O75110-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable phospholipid-transporting ATPase IIA isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O75110-1", "PR:O75110-1", "ENSEMBL:ENSP00000342481", "ENSEMBL:ENSP00000342481.5"], "information_content": 100.0}
{"id": "UniProtKB:Q5T7W7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T7W7-1", "PR:Q5T7W7-1", "ENSEMBL:ENSP00000342499", "ENSEMBL:ENSP00000342499.4"], "information_content": 100.0}
{"id": "NCBIGene:388931", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MFSD2B", "equivalent_identifiers": ["NCBIGene:388931", "ENSEMBL:ENSG00000205639", "HGNC:37207", "OMIM:617845", "UMLS:C2829656", "UniProtKB:A6NFX1", "PR:A6NFX1", "ENSEMBL:ENSP00000342501", "ENSEMBL:ENSP00000342501.4"], "information_content": 100.0}
{"id": "NCBIGene:29920", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PYCR2", "equivalent_identifiers": ["NCBIGene:29920", "ENSEMBL:ENSG00000143811", "HGNC:30262", "OMIM:616406", "UMLS:C1428949", "UniProtKB:A0A087WTV6", "ENSEMBL:ENSP00000478165", "ENSEMBL:ENSP00000478165.1", "UMLS:C4507553", "MESH:C000620304", "UniProtKB:A0A0S2Z5U6", "UniProtKB:Q96C36", "PR:Q96C36", "ENSEMBL:ENSP00000342502", "ENSEMBL:ENSP00000342502.6"], "information_content": 90.9}
{"id": "UniProtKB:Q8IW35-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 97 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IW35-1", "PR:Q8IW35-1", "ENSEMBL:ENSP00000342510", "ENSEMBL:ENSP00000342510.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6P1S2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein C3orf33 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P1S2-1", "PR:Q6P1S2-1", "ENSEMBL:ENSP00000342512", "ENSEMBL:ENSP00000342512.2"], "information_content": 100.0}
{"id": "MONDO:0010936", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 7", "equivalent_identifiers": ["MONDO:0010936", "DOID:0111227", "OMIM:600795", "UMLS:C1833296", "MESH:C563708", "MESH:C579991", "SNOMEDCT:702393003", "medgen:318833"], "information_content": 100.0}
{"id": "UniProtKB:P09912-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon alpha-inducible protein 6 isoform C (human)", "equivalent_identifiers": ["UniProtKB:P09912-3", "PR:P09912-3", "ENSEMBL:ENSP00000342513", "ENSEMBL:ENSP00000342513.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5N1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histamine H3 receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5N1-1", "PR:Q9Y5N1-1", "ENSEMBL:ENSP00000342560", "ENSEMBL:ENSP00000342560.5"], "information_content": 100.0}
{"id": "NCBIGene:285852", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TREML4", "equivalent_identifiers": ["NCBIGene:285852", "ENSEMBL:ENSG00000188056", "HGNC:30807", "OMIM:614664", "UMLS:C1540051", "UniProtKB:Q6UXN2", "PR:Q6UXN2", "ENSEMBL:ENSP00000342570", "ENSEMBL:ENSP00000342570.2", "ENSEMBL:ENSP00000418078", "ENSEMBL:ENSP00000418078.1", "UMLS:C3884147"], "information_content": 95.4}
{"id": "UniProtKB:Q8NB25-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM184A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NB25-1", "PR:Q8NB25-1", "ENSEMBL:ENSP00000342604", "ENSEMBL:ENSP00000342604.7"], "information_content": 100.0}
{"id": "MONDO:0002791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "large cell medulloblastoma", "equivalent_identifiers": ["MONDO:0002791", "DOID:3857", "EFO:0008508", "UMLS:C1266180", "NCIT:C6904", "SNOMEDCT:128790006", "medgen:226852"], "information_content": 100.0}
{"id": "UniProtKB:Q5QJU3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alkaline ceramidase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5QJU3-1", "PR:Q5QJU3-1", "ENSEMBL:ENSP00000342609", "ENSEMBL:ENSP00000342609.2"], "information_content": 100.0}
{"id": "UniProtKB:Q07343-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3',5'-cyclic-AMP phosphodiesterase 4B isoform PDE4B1 (human)", "equivalent_identifiers": ["UniProtKB:Q07343-1", "PR:Q07343-1", "ENSEMBL:ENSP00000332116", "ENSEMBL:ENSP00000332116.4", "ENSEMBL:ENSP00000342637", "ENSEMBL:ENSP00000342637.4"], "information_content": 100.0}
{"id": "NCBIGene:340602", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EZHIP", "equivalent_identifiers": ["NCBIGene:340602", "ENSEMBL:ENSG00000187690", "HGNC:33738", "OMIM:301036", "UMLS:C2829198", "UniProtKB:A0A515VFR0", "UMLS:C5197263", "MESH:C000631547", "UniProtKB:Q86X51", "PR:Q86X51", "ENSEMBL:ENSP00000342680", "ENSEMBL:ENSP00000342680.2", "UMLS:C3814393"], "information_content": 100.0}
{"id": "MONDO:0002782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranial nerve palsy", "equivalent_identifiers": ["MONDO:0002782", "DOID:3817", "EFO:0009489", "UMLS:C0151311", "UMLS:C4025709", "MEDDRA:10050039", "MEDDRA:10050355", "MEDDRA:10061908", "MEDDRA:10061911", "MEDDRA:10086555", "NCIT:C26941", "medgen:57717", "HP:0006824"], "information_content": 76.2}
{"id": "NCBIGene:921", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD5", "equivalent_identifiers": ["NCBIGene:921", "ENSEMBL:ENSG00000110448", "HGNC:1685", "OMIM:153340", "UMLS:C1413227", "UniProtKB:P06127", "PR:P06127", "ENSEMBL:ENSP00000342681", "ENSEMBL:ENSP00000342681.3", "UMLS:C3887683"], "information_content": 89.4}
{"id": "UniProtKB:Q96G28-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 36 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96G28-2", "PR:Q96G28-2", "ENSEMBL:ENSP00000342699", "ENSEMBL:ENSP00000342699.3"], "information_content": 100.0}
{"id": "NCBIGene:374454", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT77", "equivalent_identifiers": ["NCBIGene:374454", "ENSEMBL:ENSG00000189182", "HGNC:20411", "OMIM:611158", "UMLS:C1825765", "UniProtKB:Q0IIN1", "UMLS:C1433325", "MESH:C486594", "UniProtKB:Q7Z794", "PR:Q7Z794", "ENSEMBL:ENSP00000342710", "ENSEMBL:ENSP00000342710.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9H4P4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase NRDP1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4P4-1", "PR:Q9H4P4-1", "ENSEMBL:ENSP00000342755", "ENSEMBL:ENSP00000342755.4", "ENSEMBL:ENSP00000447303", "ENSEMBL:ENSP00000447303.1", "ENSEMBL:ENSP00000484671", "ENSEMBL:ENSP00000484671.1"], "information_content": 100.0}
{"id": "NCBIGene:5496", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPM1G", "equivalent_identifiers": ["NCBIGene:5496", "ENSEMBL:ENSG00000115241", "HGNC:9278", "OMIM:605119", "UMLS:C1418817", "UniProtKB:O15355", "PR:O15355", "ENSEMBL:ENSP00000342778", "ENSEMBL:ENSP00000342778.4", "UMLS:C4307809", "MESH:C000607460", "UniProtKB:Q6IAU5"], "information_content": 90.9}
{"id": "UniProtKB:B3EWG3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FM25A_HUMAN Protein FAM25A (sprot)", "equivalent_identifiers": ["UniProtKB:B3EWG3", "PR:B3EWG3", "ENSEMBL:ENSP00000342790", "ENSEMBL:ENSP00000342790.4"], "information_content": 100.0}
{"id": "UniProtKB:Q13393-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipase D1 isoform PLD1A (human)", "equivalent_identifiers": ["UniProtKB:Q13393-1", "PR:Q13393-1", "ENSEMBL:ENSP00000342793", "ENSEMBL:ENSP00000342793.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVQ4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fas apoptotic inhibitory molecule 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVQ4-2", "PR:Q9NVQ4-2", "ENSEMBL:ENSP00000342805", "ENSEMBL:ENSP00000342805.4"], "information_content": 100.0}
{"id": "UniProtKB:O00507-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 9Y isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O00507-1", "PR:O00507-1", "ENSEMBL:ENSP00000342812", "ENSEMBL:ENSP00000342812.3", "ENSEMBL:ENSP00000498372", "ENSEMBL:ENSP00000498372.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96BR6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 669 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BR6-1", "PR:Q96BR6-1", "ENSEMBL:ENSP00000342818", "ENSEMBL:ENSP00000342818.6"], "information_content": 100.0}
{"id": "NCBIGene:159296", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKX2-3", "equivalent_identifiers": ["NCBIGene:159296", "ENSEMBL:ENSG00000119919", "HGNC:7836", "OMIM:606727", "UMLS:C1417736", "UniProtKB:Q8TAU0", "PR:Q8TAU0", "ENSEMBL:ENSP00000342828", "ENSEMBL:ENSP00000342828.7", "UMLS:C2713691", "MESH:C534957"], "information_content": 100.0}
{"id": "NCBIGene:29799", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YPEL1", "equivalent_identifiers": ["NCBIGene:29799", "ENSEMBL:ENSG00000100027", "HGNC:12845", "OMIM:608082", "UMLS:C1421556", "UniProtKB:O60688", "PR:O60688", "ENSEMBL:ENSP00000342832", "ENSEMBL:ENSP00000342832.3", "UMLS:C5433404", "MESH:C000710877"], "information_content": 100.0}
{"id": "UniProtKB:Q5XG99-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LysM and putative peptidoglycan-binding domain-containing protein 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5XG99-2", "PR:Q5XG99-2", "ENSEMBL:ENSP00000342840", "ENSEMBL:ENSP00000342840.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86UR1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADPH oxidase activator 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86UR1-2", "PR:Q86UR1-2", "ENSEMBL:ENSP00000342848", "ENSEMBL:ENSP00000342848.2"], "information_content": 100.0}
{"id": "NCBIGene:866", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINA6", "equivalent_identifiers": ["NCBIGene:866", "ENSEMBL:ENSG00000170099", "HGNC:1540", "OMIM:122500", "UMLS:C1413150", "UniProtKB:A0A2Z4LCH4", "UMLS:C1432589", "MESH:C534935", "UniProtKB:P08185", "PR:P08185", "ENSEMBL:ENSP00000342850", "ENSEMBL:ENSP00000342850.3", "ENSEMBL:ENSP00000484501", "ENSEMBL:ENSP00000484501.1"], "information_content": 80.6}
{"id": "UniProtKB:Q96AC1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fermitin family homolog 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96AC1-3", "PR:Q96AC1-3", "ENSEMBL:ENSP00000342858", "ENSEMBL:ENSP00000342858.4", "ENSEMBL:ENSP00000451084", "ENSEMBL:ENSP00000451084.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEM0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microcephalin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEM0-1", "PR:Q8NEM0-1", "ENSEMBL:ENSP00000342924", "ENSEMBL:ENSP00000342924.5"], "information_content": 100.0}
{"id": "UniProtKB:P28069-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pituitary-specific positive transcription factor 1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:P28069-2", "PR:P28069-2", "ENSEMBL:ENSP00000342931", "ENSEMBL:ENSP00000342931.3"], "information_content": 100.0}
{"id": "NCBIGene:100134938", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UPK3BL1", "equivalent_identifiers": ["NCBIGene:100134938", "ENSEMBL:ENSG00000267368", "HGNC:37278", "UMLS:C2829004", "UniProtKB:B0FP48", "PR:B0FP48", "ENSEMBL:ENSP00000342938", "ENSEMBL:ENSP00000342938.8"], "information_content": 100.0}
{"id": "UniProtKB:Q08462-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenylate cyclase type 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08462-1", "PR:Q08462-1", "ENSEMBL:ENSP00000342952", "ENSEMBL:ENSP00000342952.4"], "information_content": 100.0}
{"id": "NCBIGene:57515", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERINC1", "equivalent_identifiers": ["NCBIGene:57515", "ENSEMBL:ENSG00000111897", "HGNC:13464", "OMIM:614548", "UMLS:C1822679", "UniProtKB:Q9NRX5", "PR:Q9NRX5", "ENSEMBL:ENSP00000342962", "ENSEMBL:ENSP00000342962.3", "UMLS:C1312231", "MESH:C477932"], "information_content": 89.4}
{"id": "NCBIGene:221188", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADGRG5", "equivalent_identifiers": ["NCBIGene:221188", "ENSEMBL:ENSG00000159618", "HGNC:19010", "OMIM:616965", "UMLS:C1425948", "UniProtKB:B4E148", "UMLS:C5196757", "MESH:C000630009", "UniProtKB:Q8IZF4", "PR:Q8IZF4", "ENSEMBL:ENSP00000290823", "ENSEMBL:ENSP00000290823.4", "ENSEMBL:ENSP00000342981", "ENSEMBL:ENSP00000342981.4"], "information_content": 95.4}
{"id": "UniProtKB:O95155-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin conjugation factor E4 B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95155-1", "PR:O95155-1", "ENSEMBL:ENSP00000343001", "ENSEMBL:ENSP00000343001.6"], "information_content": 100.0}
{"id": "NCBIGene:145173", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B3GLCT", "equivalent_identifiers": ["NCBIGene:145173", "ENSEMBL:ENSG00000187676", "HGNC:20207", "OMIM:610308", "UMLS:C1825855", "UniProtKB:Q6Y288", "PR:Q6Y288", "ENSEMBL:ENSP00000343002", "ENSEMBL:ENSP00000343002.4", "UMLS:C1739937", "MESH:C514116"], "information_content": 95.4}
{"id": "UniProtKB:P23497-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear autoantigen Sp-100 isoform hSp100-C (human)", "equivalent_identifiers": ["UniProtKB:P23497-4", "PR:P23497-4", "ENSEMBL:ENSP00000343023", "ENSEMBL:ENSP00000343023.4"], "information_content": 100.0}
{"id": "UniProtKB:P52756-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P52756-1", "PR:P52756-1", "ENSEMBL:ENSP00000343054", "ENSEMBL:ENSP00000343054.3"], "information_content": 100.0}
{"id": "UniProtKB:A8MQT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "golgin subfamily A member 8B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A8MQT2-1", "PR:A8MQT2-1", "ENSEMBL:ENSP00000343064", "ENSEMBL:ENSP00000343064.5", "ENSEMBL:ENSP00000507830", "ENSEMBL:ENSP00000507830.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0K6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pseudouridylate synthase PUS7L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0K6-1", "PR:Q9H0K6-1", "ENSEMBL:ENSP00000343081", "ENSEMBL:ENSP00000343081.5", "ENSEMBL:ENSP00000415899", "ENSEMBL:ENSP00000415899.2", "ENSEMBL:ENSP00000447706", "ENSEMBL:ENSP00000447706.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVM4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein arginine N-methyltransferase 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVM4-1", "PR:Q9NVM4-1", "ENSEMBL:ENSP00000343103", "ENSEMBL:ENSP00000343103.5", "ENSEMBL:ENSP00000409324", "ENSEMBL:ENSP00000409324.2", "ENSEMBL:ENSP00000509003", "ENSEMBL:ENSP00000509003.1", "ENSEMBL:ENSP00000510748", "ENSEMBL:ENSP00000510748.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14134-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 29 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q14134-1", "PR:Q14134-1", "ENSEMBL:ENSP00000343129", "ENSEMBL:ENSP00000343129.5"], "information_content": 100.0}
{"id": "UniProtKB:Q702N8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Xin actin-binding repeat-containing protein 1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q702N8-1", "PR:Q702N8-1", "ENSEMBL:ENSP00000343140", "ENSEMBL:ENSP00000343140.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYG4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "partitioning defective 6 homolog gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYG4-1", "PR:Q9BYG4-1", "ENSEMBL:ENSP00000343144", "ENSEMBL:ENSP00000343144.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2J2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "band 4.1-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2J2-1", "PR:Q9Y2J2-1", "ENSEMBL:ENSP00000343158", "ENSEMBL:ENSP00000343158.2"], "information_content": 100.0}
{"id": "NCBIGene:389073", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C2orf80", "equivalent_identifiers": ["NCBIGene:389073", "ENSEMBL:ENSG00000188674", "HGNC:34352", "OMIM:615536", "UMLS:C2681205", "UniProtKB:Q0P641", "PR:Q0P641", "ENSEMBL:ENSP00000343171", "ENSEMBL:ENSP00000343171.4"], "information_content": 100.0}
{"id": "MONDO:0014433", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 4", "equivalent_identifiers": ["MONDO:0014433", "DOID:0110126", "OMIM:615982", "EFO:0009024", "UMLS:C2936864", "MESH:C537912", "medgen:423627"], "information_content": 100.0}
{"id": "NCBIGene:401137", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRR27", "equivalent_identifiers": ["NCBIGene:401137", "ENSEMBL:ENSG00000187533", "HGNC:33193", "UMLS:C3813424", "UniProtKB:Q6MZM9", "PR:Q6MZM9", "ENSEMBL:ENSP00000343172", "ENSEMBL:ENSP00000343172.5", "ENSEMBL:ENSP00000426249", "ENSEMBL:ENSP00000426249.1", "ENSEMBL:ENSP00000489097", "ENSEMBL:ENSP00000489097.1", "ENSEMBL:ENSP00000489399", "ENSEMBL:ENSP00000489399.1"], "information_content": 95.4}
{"id": "UniProtKB:Q96CD2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphopantothenoylcysteine decarboxylase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CD2-1", "PR:Q96CD2-1", "ENSEMBL:ENSP00000343190", "ENSEMBL:ENSP00000343190.3"], "information_content": 100.0}
{"id": "MONDO:0011792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid dyshormonogenesis 6", "equivalent_identifiers": ["MONDO:0011792", "DOID:0112189", "OMIM:607200", "UMLS:C1846632", "MESH:C564608", "medgen:375935"], "information_content": 100.0}
{"id": "MONDO:0008890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive bulbar palsy", "equivalent_identifiers": ["MONDO:0008890", "DOID:681", "EFO:0003783", "UMLS:C0030442", "MESH:D010244", "MEDDRA:10036800", "NCIT:C85026", "SNOMEDCT:54304004", "medgen:18290", "icd11.foundation:1143049440", "ICD10:G12.22", "ICD9:335.22"], "information_content": 92.8}
{"id": "MONDO:0024182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dry beriberi", "equivalent_identifiers": ["MONDO:0024182", "DOID:0070318", "UMLS:C0268670", "SNOMEDCT:71021002", "SNOMEDCT:79389008", "medgen:541401", "icd11.foundation:582233757", "ICD10:E51.11"], "information_content": 100.0}
{"id": "MONDO:0024183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wet beriberi", "equivalent_identifiers": ["MONDO:0024183", "DOID:0070317", "UMLS:C0268669", "SNOMEDCT:67360000", "medgen:541400", "icd11.foundation:1753713002", "ICD10:E51.12"], "information_content": 100.0}
{"id": "UniProtKB:P84550-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SKI family transcriptional corepressor 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P84550-2", "PR:P84550-2", "ENSEMBL:ENSP00000343200", "ENSEMBL:ENSP00000343200.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZNQ3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 69 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZNQ3-2", "PR:Q6ZNQ3-2", "ENSEMBL:ENSP00000343221", "ENSEMBL:ENSP00000343221.3"], "information_content": 100.0}
{"id": "NCBIGene:9623", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCL1B", "equivalent_identifiers": ["NCBIGene:9623", "ENSEMBL:ENSG00000213231", "HGNC:11649", "OMIM:603769", "UMLS:C1336598", "UniProtKB:O95988", "PR:O95988", "ENSEMBL:ENSP00000343223", "ENSEMBL:ENSP00000343223.6", "UMLS:C1309046", "MESH:C118783"], "information_content": 100.0}
{"id": "NCBIGene:388228", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SBK1", "equivalent_identifiers": ["NCBIGene:388228", "ENSEMBL:ENSG00000188322", "HGNC:17699", "OMIM:620212", "UMLS:C1539728", "UniProtKB:Q52WX2", "PR:Q52WX2", "ENSEMBL:ENSP00000343248", "ENSEMBL:ENSP00000343248.4", "UMLS:C3254134", "MESH:C561879"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXQ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXQ5-1", "PR:Q8IXQ5-1", "ENSEMBL:ENSP00000343273", "ENSEMBL:ENSP00000343273.4"], "information_content": 100.0}
{"id": "MONDO:0010407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked syndromic, Turner type", "equivalent_identifiers": ["MONDO:0010407", "DOID:0060811", "OMIM:309590", "UMLS:C0796003", "UMLS:C2678046", "MESH:C563154", "MESH:C567476", "SNOMEDCT:721875000", "SNOMEDCT:725912001", "medgen:394425"], "information_content": 100.0}
{"id": "UniProtKB:O00409-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein N3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00409-1", "PR:O00409-1", "ENSEMBL:ENSP00000261302", "ENSEMBL:ENSP00000261302.5", "ENSEMBL:ENSP00000343288", "ENSEMBL:ENSP00000343288.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZQR2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 77 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZQR2-1", "PR:Q6ZQR2-1", "ENSEMBL:ENSP00000343290", "ENSEMBL:ENSP00000343290.2"], "information_content": 100.0}
{"id": "UniProtKB:Q16512-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase N1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16512-2", "PR:Q16512-2", "ENSEMBL:ENSP00000343325", "ENSEMBL:ENSP00000343325.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBL9-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "P2X purinoceptor 2 isoform D (human)", "equivalent_identifiers": ["UniProtKB:Q9UBL9-4", "PR:Q9UBL9-4", "ENSEMBL:ENSP00000343339", "ENSEMBL:ENSP00000343339.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6UX27-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-set and transmembrane domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UX27-1", "PR:Q6UX27-1", "ENSEMBL:ENSP00000343366", "ENSEMBL:ENSP00000343366.2", "ENSEMBL:ENSP00000478582", "ENSEMBL:ENSP00000478582.1", "ENSEMBL:ENSP00000480533", "ENSEMBL:ENSP00000480533.1", "ENSEMBL:ENSP00000480547", "ENSEMBL:ENSP00000480547.1", "ENSEMBL:ENSP00000482197", "ENSEMBL:ENSP00000482197.1", "ENSEMBL:ENSP00000482555", "ENSEMBL:ENSP00000482555.1", "ENSEMBL:ENSP00000482985", "ENSEMBL:ENSP00000482985.1", "ENSEMBL:ENSP00000483412", "ENSEMBL:ENSP00000483412.1", "ENSEMBL:ENSP00000484806", "ENSEMBL:ENSP00000484806.1", "ENSEMBL:ENSP00000484844", "ENSEMBL:ENSP00000484844.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZT21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein with metallophosphoesterase domain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZT21-1", "PR:Q6ZT21-1", "ENSEMBL:ENSP00000343398", "ENSEMBL:ENSP00000343398.4"], "information_content": 100.0}
{"id": "UniProtKB:P53992-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein transport protein Sec24C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P53992-1", "PR:P53992-1", "ENSEMBL:ENSP00000321845", "ENSEMBL:ENSP00000321845.6", "ENSEMBL:ENSP00000343405", "ENSEMBL:ENSP00000343405.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXR7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BRISC and BRCA1-A complex member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXR7-1", "PR:Q9NXR7-1", "ENSEMBL:ENSP00000343412", "ENSEMBL:ENSP00000343412.2"], "information_content": 100.0}
{"id": "NCBIGene:2841", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR18", "equivalent_identifiers": ["NCBIGene:2841", "ENSEMBL:ENSG00000125245", "HGNC:4472", "OMIM:602042", "UMLS:C1415211", "UniProtKB:Q14330", "PR:Q14330", "ENSEMBL:ENSP00000343428", "ENSEMBL:ENSP00000343428.3", "ENSEMBL:ENSP00000380610", "ENSEMBL:ENSP00000380610.2", "ENSEMBL:ENSP00000380613", "ENSEMBL:ENSP00000380613.2", "ENSEMBL:ENSP00000401611", "ENSEMBL:ENSP00000401611.2"], "information_content": 95.4}
{"id": "NCBIGene:6318", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINB4", "equivalent_identifiers": ["NCBIGene:6318", "ENSEMBL:ENSG00000206073", "HGNC:10570", "OMIM:600518", "UMLS:C1419845", "UniProtKB:P48594", "PR:P48594", "ENSEMBL:ENSP00000343445", "ENSEMBL:ENSP00000343445.5", "UMLS:C1451613", "UniProtKB:Q9BYF7"], "information_content": 92.8}
{"id": "MONDO:0004384", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maxillary sinus inverted papilloma", "equivalent_identifiers": ["MONDO:0004384", "DOID:7868", "UMLS:C1334645", "NCIT:C6840", "medgen:277347"], "information_content": 100.0}
{"id": "MONDO:0032846", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta, type 20", "equivalent_identifiers": ["MONDO:0032846", "DOID:0111849", "OMIM:618644", "UMLS:C5231439", "medgen:1684751"], "information_content": 100.0}
{"id": "UniProtKB:Q14596-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "next to BRCA1 gene 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14596-1", "PR:Q14596-1", "ENSEMBL:ENSP00000343479", "ENSEMBL:ENSP00000343479.5", "ENSEMBL:ENSP00000466667", "ENSEMBL:ENSP00000466667.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWM7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lactase-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWM7-1", "PR:Q6UWM7-1", "ENSEMBL:ENSP00000343490", "ENSEMBL:ENSP00000343490.5", "ENSEMBL:ENSP00000512002", "ENSEMBL:ENSP00000512002.1"], "information_content": 100.0}
{"id": "NCBIGene:100141515", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C17orf99", "equivalent_identifiers": ["NCBIGene:100141515", "ENSEMBL:ENSG00000187997", "HGNC:34490", "UMLS:C2681303", "UniProtKB:Q6UX52", "PR:Q6UX52", "ENSEMBL:ENSP00000343493", "ENSEMBL:ENSP00000343493.4", "UMLS:C5690316", "MESH:C000721031"], "information_content": 100.0}
{"id": "NCBIGene:51070", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOSIP", "equivalent_identifiers": ["NCBIGene:51070", "ENSEMBL:ENSG00000142546", "HGNC:17946", "OMIM:616759", "UMLS:C1425195", "UniProtKB:A0A075B6F9", "ENSEMBL:ENSP00000343497", "ENSEMBL:ENSP00000343497.3", "UMLS:C1432051", "MESH:C419706", "UniProtKB:Q9Y314", "PR:Q9Y314", "ENSEMBL:ENSP00000470034", "ENSEMBL:ENSP00000470034.1"]}
{"id": "UniProtKB:O75888-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor ligand superfamily member 13 isoform alpha (human)", "equivalent_identifiers": ["UniProtKB:O75888-1", "PR:O75888-1", "ENSEMBL:ENSP00000343505", "ENSEMBL:ENSP00000343505.4"], "information_content": 100.0}
{"id": "NCBIGene:130612", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM198", "equivalent_identifiers": ["NCBIGene:130612", "ENSEMBL:ENSG00000188760", "HGNC:33704", "UMLS:C2240104", "UniProtKB:Q66K66", "PR:Q66K66", "ENSEMBL:ENSP00000343507", "ENSEMBL:ENSP00000343507.2", "ENSEMBL:ENSP00000362990", "ENSEMBL:ENSP00000362990.3", "UMLS:C3178309", "MESH:C560429"], "information_content": 95.4}
{"id": "UniProtKB:Q15560-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription elongation factor A protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15560-1", "PR:Q15560-1", "ENSEMBL:ENSP00000343515", "ENSEMBL:ENSP00000343515.5"], "information_content": 100.0}
{"id": "NCBIGene:7398", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP1", "equivalent_identifiers": ["NCBIGene:7398", "ENSEMBL:ENSG00000162607", "HGNC:12607", "OMIM:603478", "UMLS:C1421386", "UniProtKB:O94782", "PR:O94782", "ENSEMBL:ENSP00000343526", "ENSEMBL:ENSP00000343526.4", "ENSEMBL:ENSP00000360188", "ENSEMBL:ENSP00000360188.1", "UMLS:C3711185", "MESH:C579228"], "information_content": 95.4}
{"id": "UniProtKB:Q93009-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q93009-1", "PR:Q93009-1", "ENSEMBL:ENSP00000343535", "ENSEMBL:ENSP00000343535.4"], "information_content": 100.0}
{"id": "NCBIGene:23463", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ICMT", "equivalent_identifiers": ["NCBIGene:23463", "ENSEMBL:ENSG00000116237", "HGNC:5350", "OMIM:605851", "UMLS:C1415845", "UniProtKB:B3KS61", "UMLS:C5391640", "MESH:C000706752", "UniProtKB:O60725", "PR:O60725", "ENSEMBL:ENSP00000343552", "ENSEMBL:ENSP00000343552.5", "UniProtKB:Q7Z750", "ENSEMBL:ENSP00000466222", "ENSEMBL:ENSP00000466222.1"], "information_content": 90.9}
{"id": "UniProtKB:Q15661-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tryptase alpha/beta-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15661-1", "PR:Q15661-1", "ENSEMBL:ENSP00000343577", "ENSEMBL:ENSP00000343577.3", "ENSEMBL:ENSP00000502948", "ENSEMBL:ENSP00000502948.1", "ENSEMBL:ENSP00000518727", "ENSEMBL:ENSP00000518727.1"], "information_content": 100.0}
{"id": "NCBIGene:3205", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXA9", "equivalent_identifiers": ["NCBIGene:3205", "ENSEMBL:ENSG00000078399", "HGNC:5109", "OMIM:142956", "UMLS:C1333922", "UniProtKB:P31269", "PR:P31269", "ENSEMBL:ENSP00000343619", "ENSEMBL:ENSP00000343619.6", "UMLS:C1568680"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y520-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein PRRC2C isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y520-4", "PR:Q9Y520-4", "ENSEMBL:ENSP00000343629", "ENSEMBL:ENSP00000343629.4", "ENSEMBL:ENSP00000410219", "ENSEMBL:ENSP00000410219.3"], "information_content": 100.0}
{"id": "UniProtKB:P32314-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein N2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P32314-1", "PR:P32314-1", "ENSEMBL:ENSP00000343633", "ENSEMBL:ENSP00000343633.3"], "information_content": 100.0}
{"id": "NCBIGene:57707", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MEAK7", "equivalent_identifiers": ["NCBIGene:57707", "ENSEMBL:ENSG00000140950", "HGNC:29325", "OMIM:619331", "UMLS:C3540898", "UniProtKB:A8K5C2", "UMLS:C5773122", "MESH:C000723908", "UniProtKB:Q6P9B6", "PR:Q6P9B6", "ENSEMBL:ENSP00000343635", "ENSEMBL:ENSP00000343635.6"], "information_content": 95.4}
{"id": "NCBIGene:389400", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GFRAL", "equivalent_identifiers": ["NCBIGene:389400", "ENSEMBL:ENSG00000187871", "HGNC:32789", "OMIM:617837", "UMLS:C1825343", "UniProtKB:Q6UXV0", "PR:Q6UXV0", "ENSEMBL:ENSP00000343636", "ENSEMBL:ENSP00000343636.2", "UMLS:C5400890"], "information_content": 100.0}
{"id": "NCBIGene:9771", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAPGEF5", "equivalent_identifiers": ["NCBIGene:9771", "ENSEMBL:ENSG00000136237", "HGNC:16862", "OMIM:609527", "UMLS:C1424601", "UniProtKB:A0A0S2Z561", "UniProtKB:A8MQ07", "ENSEMBL:ENSP00000343656", "ENSEMBL:ENSP00000343656.6", "UMLS:C0962744", "MESH:C417242", "UniProtKB:Q92565", "PR:Q92565"]}
{"id": "UniProtKB:Q9HCC0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCC0-1", "PR:Q9HCC0-1", "ENSEMBL:ENSP00000343657", "ENSEMBL:ENSP00000343657.6"], "information_content": 100.0}
{"id": "UniProtKB:O95819-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase kinase 4 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:O95819-6", "PR:O95819-6", "ENSEMBL:ENSP00000343658", "ENSEMBL:ENSP00000343658.5"], "information_content": 100.0}
{"id": "NCBIGene:431705", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASTL", "equivalent_identifiers": ["NCBIGene:431705", "ENSEMBL:ENSG00000188886", "HGNC:31704", "OMIM:608860", "UMLS:C1540209", "UniProtKB:Q6HA08", "PR:Q6HA08", "ENSEMBL:ENSP00000343674", "ENSEMBL:ENSP00000343674.2", "UMLS:C1454022", "MESH:C487826"], "information_content": 100.0}
{"id": "NCBIGene:2701", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJA4", "equivalent_identifiers": ["NCBIGene:2701", "ENSEMBL:ENSG00000187513", "HGNC:4278", "OMIM:121012", "UMLS:C1415072", "UniProtKB:P35212", "PR:P35212", "ENSEMBL:ENSP00000343676", "ENSEMBL:ENSP00000343676.4", "UMLS:C5828898", "MESH:C000727615"], "information_content": 95.4}
{"id": "UniProtKB:Q14195-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dihydropyrimidinase-related protein 3 isoform hLCRMP-4 (human)", "equivalent_identifiers": ["UniProtKB:Q14195-2", "PR:Q14195-2", "ENSEMBL:ENSP00000343690", "ENSEMBL:ENSP00000343690.5"], "information_content": 100.0}
{"id": "NCBIGene:3836", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KPNA1", "equivalent_identifiers": ["NCBIGene:3836", "ENSEMBL:ENSG00000114030", "HGNC:6394", "OMIM:600686", "UMLS:C1416699", "UniProtKB:P52294", "PR:P52294", "ENSEMBL:ENSP00000343701", "ENSEMBL:ENSP00000343701.6", "UMLS:C1447299", "MESH:C423142"], "information_content": 89.4}
{"id": "NCBIGene:28986", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEH1", "equivalent_identifiers": ["NCBIGene:28986", "ENSEMBL:ENSG00000187601", "HGNC:24092", "OMIM:300548", "UMLS:C1537643", "UniProtKB:Q9H213", "PR:Q9H213", "ENSEMBL:ENSP00000343706", "ENSEMBL:ENSP00000343706.1", "UMLS:C1611289"], "information_content": 100.0}
{"id": "UniProtKB:Q13535-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase ATR isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13535-1", "PR:Q13535-1", "ENSEMBL:ENSP00000343741", "ENSEMBL:ENSP00000343741.4"], "information_content": 100.0}
{"id": "NCBIGene:7464", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CORO2A", "equivalent_identifiers": ["NCBIGene:7464", "ENSEMBL:ENSG00000106789", "HGNC:2255", "OMIM:602159", "UMLS:C1413625", "UniProtKB:A8K9S3", "UMLS:C1307907", "UniProtKB:Q92828", "PR:Q92828", "ENSEMBL:ENSP00000343746", "ENSEMBL:ENSP00000343746.5", "ENSEMBL:ENSP00000364218", "ENSEMBL:ENSP00000364218.4"], "information_content": 95.4}
{"id": "NCBIGene:155", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADRB3", "equivalent_identifiers": ["NCBIGene:155", "ENSEMBL:ENSG00000188778", "HGNC:288", "OMIM:109691", "UMLS:C1439274", "UniProtKB:A8KAG8", "UniProtKB:P13945", "PR:P13945", "ENSEMBL:ENSP00000343782", "ENSEMBL:ENSP00000343782.3", "UMLS:C3252518", "MESH:C568534"], "information_content": 100.0}
{"id": "MONDO:0002407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Spider nevus", "equivalent_identifiers": ["MONDO:0002407", "DOID:2725", "UMLS:C0085666", "UMLS:C0206733", "MESH:D018324", "MEDDRA:10002462", "MEDDRA:10007197", "MEDDRA:10019404", "MEDDRA:10041516", "MEDDRA:10041518", "MEDDRA:10041519", "MEDDRA:10041520", "MEDDRA:10041521", "MEDDRA:10042171", "MEDDRA:10042172", "MEDDRA:10055906", "MEDDRA:10062789", "MEDDRA:10062803", "MEDDRA:10077462", "MEDDRA:10087485", "MEDDRA:10087487", "NCIT:C3481", "NCIT:C7457", "SNOMEDCT:1197658008", "SNOMEDCT:195382003", "SNOMEDCT:254206003", "SNOMEDCT:402867006", "SNOMEDCT:56975005", "SNOMEDCT:83343001", "medgen:64643", "ICD10:Q82.5", "HP:0005306"], "information_content": 80.9}
{"id": "UniProtKB:Q96SN8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CDK5 regulatory subunit-associated protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96SN8-1", "PR:Q96SN8-1", "ENSEMBL:ENSP00000343818", "ENSEMBL:ENSP00000343818.4"], "information_content": 100.0}
{"id": "MONDO:0013553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 2", "equivalent_identifiers": ["MONDO:0013553", "DOID:0090009", "OMIM:614069", "UMLS:C3279748", "medgen:481378"], "information_content": 100.0}
{"id": "MONDO:0014853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 70", "equivalent_identifiers": ["MONDO:0014853", "DOID:0110592", "OMIM:616968", "UMLS:C4310775", "medgen:934742"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 1A10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAW8-1", "PR:Q9HAW8-1", "ENSEMBL:ENSP00000343838", "ENSEMBL:ENSP00000343838.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZWH5-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Nek10 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZWH5-4", "PR:Q6ZWH5-4", "ENSEMBL:ENSP00000343847", "ENSEMBL:ENSP00000343847.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96E11-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosome-recycling factor, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96E11-1", "PR:Q96E11-1", "ENSEMBL:ENSP00000343867", "ENSEMBL:ENSP00000343867.3"], "information_content": 100.0}
{"id": "MONDO:0002885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrasma", "equivalent_identifiers": ["MONDO:0002885", "DOID:4131", "EFO:1000696", "UMLS:C0014752", "UMLS:C2364003", "MESH:D004894", "MEDDRA:10015248", "SNOMEDCT:238418005", "SNOMEDCT:264207005", "medgen:4529", "icd11.foundation:272312002", "ICD10:L08.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5T4D3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein O-mannosyl-transferase TMTC4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5T4D3-3", "PR:Q5T4D3-3", "ENSEMBL:ENSP00000343871", "ENSEMBL:ENSP00000343871.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2U2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inorganic pyrophosphatase 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2U2-1", "PR:Q9H2U2-1", "ENSEMBL:ENSP00000343885", "ENSEMBL:ENSP00000343885.5"], "information_content": 100.0}
{"id": "NCBIGene:80772", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPTP", "equivalent_identifiers": ["NCBIGene:80772", "ENSEMBL:ENSG00000224051", "HGNC:28116", "OMIM:615467", "UMLS:C2239498", "UniProtKB:Q5TA50", "PR:Q5TA50", "ENSEMBL:ENSP00000343890", "ENSEMBL:ENSP00000343890.4", "UMLS:C3710858", "MESH:C583333", "UniProtKB:S4S694"], "information_content": 95.4}
{"id": "NCBIGene:126204", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NLRP13", "equivalent_identifiers": ["NCBIGene:126204", "ENSEMBL:ENSG00000173572", "HGNC:22937", "OMIM:609660", "UMLS:C1427792", "UniProtKB:A0A0C4DGQ4", "ENSEMBL:ENSP00000467899", "ENSEMBL:ENSP00000467899.1", "UniProtKB:Q86W25", "PR:Q86W25", "ENSEMBL:ENSP00000343891", "ENSEMBL:ENSP00000343891.3"], "information_content": 100.0}
{"id": "MONDO:0001109", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "petrositis", "equivalent_identifiers": ["MONDO:0001109", "DOID:10755", "UMLS:C0155448", "UMLS:C0155449", "UMLS:C0155450", "MESH:D059270", "MEDDRA:10001001", "MEDDRA:10009104", "MEDDRA:10034762", "MEDDRA:10034763", "SNOMEDCT:28593007", "SNOMEDCT:34997001", "SNOMEDCT:51211002", "medgen:452133", "icd11.foundation:716546173", "ICD10:H70.2", "ICD10:H70.21", "ICD10:H70.22", "ICD9:383.2", "ICD9:383.21", "ICD9:383.22"], "information_content": 100.0}
{"id": "UniProtKB:P51532-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription activator BRG1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51532-1", "PR:P51532-1", "ENSEMBL:ENSP00000343896", "ENSEMBL:ENSP00000343896.4", "ENSEMBL:ENSP00000395654", "ENSEMBL:ENSP00000395654.1"], "information_content": 100.0}
{"id": "MONDO:0001735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paranasal sinus disorder", "equivalent_identifiers": ["MONDO:0001735", "DOID:1352", "EFO:0009481", "UMLS:C0030469", "MESH:D010254", "MEDDRA:10051829", "MEDDRA:10062244", "NCIT:C26843", "SNOMEDCT:7393007", "medgen:14608"], "information_content": 70.3}
{"id": "UniProtKB:Q96NE9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FERM domain-containing protein 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NE9-1", "PR:Q96NE9-1", "ENSEMBL:ENSP00000343899", "ENSEMBL:ENSP00000343899.6"], "information_content": 100.0}
{"id": "NCBIGene:642843", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPSF4L", "equivalent_identifiers": ["NCBIGene:642843", "ENSEMBL:ENSG00000187959", "HGNC:33632", "UMLS:C2239309", "UniProtKB:A6NMK7", "PR:A6NMK7", "ENSEMBL:ENSP00000343900", "ENSEMBL:ENSP00000343900.4"], "information_content": 100.0}
{"id": "MONDO:0014432", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 2", "equivalent_identifiers": ["MONDO:0014432", "DOID:0110124", "OMIM:615981", "UMLS:C2936863", "MESH:C537910", "medgen:422453"], "information_content": 100.0}
{"id": "NCBIGene:5549", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRELP", "equivalent_identifiers": ["NCBIGene:5549", "ENSEMBL:ENSG00000188783", "HGNC:9357", "OMIM:601914", "UMLS:C1418884", "UniProtKB:P51888", "PR:P51888", "ENSEMBL:ENSP00000343924", "ENSEMBL:ENSP00000343924.2", "UMLS:C1448959", "MESH:C096382"], "information_content": 84.8}
{"id": "UniProtKB:Q92731-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "estrogen receptor beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92731-1", "PR:Q92731-1", "ENSEMBL:ENSP00000343925", "ENSEMBL:ENSP00000343925.4"], "information_content": 100.0}
{"id": "NCBIGene:339451", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHL17", "equivalent_identifiers": ["NCBIGene:339451", "ENSEMBL:ENSG00000187961", "HGNC:24023", "OMIM:619262", "UMLS:C1537496", "UniProtKB:Q6TDP4", "PR:Q6TDP4", "ENSEMBL:ENSP00000343930", "ENSEMBL:ENSP00000343930.3"], "information_content": 95.4}
{"id": "NCBIGene:1235", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCR6", "equivalent_identifiers": ["NCBIGene:1235", "ENSEMBL:ENSG00000112486", "HGNC:1607", "OMIM:601835", "UMLS:C1332701", "UniProtKB:P51684", "PR:P51684", "ENSEMBL:ENSP00000339393", "ENSEMBL:ENSP00000339393.4", "ENSEMBL:ENSP00000343952", "ENSEMBL:ENSP00000343952.5", "ENSEMBL:ENSP00000383715", "ENSEMBL:ENSP00000383715.2", "ENSEMBL:ENSP00000493637", "ENSEMBL:ENSP00000493637.1", "UMLS:C1308121", "MESH:C106311"], "information_content": 95.4}
{"id": "UniProtKB:P48551-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon alpha/beta receptor 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48551-1", "PR:P48551-1", "ENSEMBL:ENSP00000343957", "ENSEMBL:ENSP00000343957.5", "ENSEMBL:ENSP00000508013", "ENSEMBL:ENSP00000508013.1"], "information_content": 95.4}
{"id": "MONDO:0014727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 45", "equivalent_identifiers": ["MONDO:0014727", "DOID:0111994", "OMIM:616669", "UMLS:C4225252", "medgen:901044"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXF1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paraspeckle component 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXF1-1", "PR:Q8WXF1-1", "ENSEMBL:ENSP00000343966", "ENSEMBL:ENSP00000343966.4", "ENSEMBL:ENSP00000481916", "ENSEMBL:ENSP00000481916.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "autism susceptibility gene 2 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXX7-1", "PR:Q8WXX7-1", "ENSEMBL:ENSP00000344087", "ENSEMBL:ENSP00000344087.4"], "information_content": 100.0}
{"id": "MONDO:0003969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amphetamine abuse", "equivalent_identifiers": ["MONDO:0003969", "DOID:670", "UMLS:C0154536", "UMLS:C0236733", "UMLS:C0236807", "MESH:D019969", "MEDDRA:10068729", "SNOMEDCT:83367009", "SNOMEDCT:84758004", "medgen:66744", "icd11.foundation:879494155", "ICD9:305.7"], "information_content": 100.0}
{"id": "MONDO:0011537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macrocephaly-autism syndrome", "equivalent_identifiers": ["MONDO:0011537", "DOID:0060867", "OMIM:605309", "orphanet:210548", "UMLS:C1854416", "MESH:C565342", "medgen:381416"], "information_content": 100.0}
{"id": "NCBIGene:84892", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POMGNT2", "equivalent_identifiers": ["NCBIGene:84892", "ENSEMBL:ENSG00000144647", "HGNC:25902", "OMIM:614828", "UMLS:C1824135", "UniProtKB:Q8NAT1", "PR:Q8NAT1", "ENSEMBL:ENSP00000344125", "ENSEMBL:ENSP00000344125.2", "ENSEMBL:ENSP00000408992", "ENSEMBL:ENSP00000408992.1", "ENSEMBL:ENSP00000509123", "ENSEMBL:ENSP00000509123.1", "ENSEMBL:ENSP00000509610", "ENSEMBL:ENSP00000509610.1", "ENSEMBL:ENSP00000510571", "ENSEMBL:ENSP00000510571.1", "ENSEMBL:ENSP00000510646", "ENSEMBL:ENSP00000510646.1", "ENSEMBL:ENSP00000510801", "ENSEMBL:ENSP00000510801.1", "UMLS:C3529551", "MESH:C576562"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z5V6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stabilizer of axonemal microtubules 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5V6-1", "PR:Q7Z5V6-1", "ENSEMBL:ENSP00000344140", "ENSEMBL:ENSP00000344140.2"], "information_content": 100.0}
{"id": "MONDO:0016700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anaplastic ependymoma", "equivalent_identifiers": ["MONDO:0016700", "DOID:5074", "DOID:5889", "orphanet:251646", "UMLS:C0280788", "MEDDRA:10002226", "MEDDRA:10014968", "NCIT:C4049", "SNOMEDCT:1156903009", "medgen:128891"], "information_content": 85.5}
{"id": "MONDO:0003478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood ependymoma", "equivalent_identifiers": ["MONDO:0003478", "DOID:5509", "UMLS:C1851584", "MESH:C531673", "NCIT:C8578", "medgen:343609"], "information_content": 79.3}
{"id": "MONDO:0850339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior fossa ependymoma", "equivalent_identifiers": ["MONDO:0850339", "DOID:0080889", "UMLS:C5670542", "NCIT:C186443", "medgen:1811888"], "information_content": 89.4}
{"id": "UniProtKB:Q9BZC7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family A member 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZC7-3", "PR:Q9BZC7-3", "ENSEMBL:ENSP00000344155", "ENSEMBL:ENSP00000344155.6"], "information_content": 100.0}
{"id": "NCBIGene:7695", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF136", "equivalent_identifiers": ["NCBIGene:7695", "ENSEMBL:ENSG00000196646", "HGNC:12920", "OMIM:604078", "UMLS:C1421628", "UniProtKB:A0A494C0J2", "ENSEMBL:ENSP00000498578", "ENSEMBL:ENSP00000498578.1", "UMLS:C1438066", "MESH:C095225", "UniProtKB:B4DS70", "UniProtKB:P52737", "PR:P52737", "ENSEMBL:ENSP00000344162", "ENSEMBL:ENSP00000344162.4"], "information_content": 92.8}
{"id": "MONDO:0003078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extraocular retinoblastoma", "equivalent_identifiers": ["MONDO:0003078", "DOID:4656", "UMLS:C0278719", "MEDDRA:10015831", "NCIT:C7848", "medgen:75861"], "information_content": 95.4}
{"id": "NCBIGene:387522", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PEDS1-UBE2V1", "equivalent_identifiers": ["NCBIGene:387522", "ENSEMBL:ENSG00000124208", "HGNC:33521", "UMLS:C2828874", "UniProtKB:I3L0A0", "ENSEMBL:ENSP00000344166", "ENSEMBL:ENSP00000344166.2"]}
{"id": "UniProtKB:Q14142-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 14 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q14142-1", "PR:Q14142-1", "ENSEMBL:ENSP00000343990", "ENSEMBL:ENSP00000343990.3", "ENSEMBL:ENSP00000344208", "ENSEMBL:ENSP00000344208.2", "ENSEMBL:ENSP00000364239", "ENSEMBL:ENSP00000364239.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96A56-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor protein p53-inducible nuclear protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96A56-1", "PR:Q96A56-1", "ENSEMBL:ENSP00000344215", "ENSEMBL:ENSP00000344215.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5VX71-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sushi domain-containing protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VX71-1", "PR:Q5VX71-1", "ENSEMBL:ENSP00000344219", "ENSEMBL:ENSP00000344219.3", "ENSEMBL:ENSP00000355843", "ENSEMBL:ENSP00000355843.4", "ENSEMBL:ENSP00000505262", "ENSEMBL:ENSP00000505262.1", "ENSEMBL:ENSP00000505495", "ENSEMBL:ENSP00000505495.1"], "information_content": 100.0}
{"id": "UniProtKB:O15530-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3-phosphoinositide-dependent protein kinase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15530-1", "PR:O15530-1", "ENSEMBL:ENSP00000344220", "ENSEMBL:ENSP00000344220.4"], "information_content": 100.0}
{"id": "NCBIGene:8720", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MBTPS1", "equivalent_identifiers": ["NCBIGene:8720", "ENSEMBL:ENSG00000140943", "HGNC:15456", "OMIM:603355", "UMLS:C1423502", "UniProtKB:Q14703", "PR:Q14703", "ENSEMBL:ENSP00000344223", "ENSEMBL:ENSP00000344223.3", "UMLS:C2713482"], "information_content": 90.9}
{"id": "UniProtKB:Q8N309-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 43 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N309-1", "PR:Q8N309-1", "ENSEMBL:ENSP00000344233", "ENSEMBL:ENSP00000344233.4"], "information_content": 100.0}
{"id": "MONDO:0013352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0013352", "DOID:0111331", "OMIM:613670", "orphanet:391372", "UMLS:C4013764", "medgen:862201"], "information_content": 100.0}
{"id": "NCBIGene:55954", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZMAT5", "equivalent_identifiers": ["NCBIGene:55954", "ENSEMBL:ENSG00000100319", "HGNC:28046", "OMIM:619741", "UMLS:C1823955", "UniProtKB:Q9UDW3", "PR:Q9UDW3", "ENSEMBL:ENSP00000344241", "ENSEMBL:ENSP00000344241.3"], "information_content": 95.4}
{"id": "MONDO:0012941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 25", "equivalent_identifiers": ["MONDO:0012941", "DOID:0110909", "OMIM:612567", "UMLS:C2675508", "MESH:C567251", "medgen:393403"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6Y2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6Y2-1", "PR:Q8N6Y2-1", "ENSEMBL:ENSP00000344242", "ENSEMBL:ENSP00000344242.4"], "information_content": 100.0}
{"id": "NCBIGene:117248", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GALNT15", "equivalent_identifiers": ["NCBIGene:117248", "ENSEMBL:ENSG00000131386", "HGNC:21531", "OMIM:615131", "UMLS:C1427591", "UniProtKB:C9JGI4", "ENSEMBL:ENSP00000395873", "ENSEMBL:ENSP00000395873.1", "UniProtKB:Q4G146", "UniProtKB:Q8N3T1", "PR:Q8N3T1", "ENSEMBL:ENSP00000344260", "ENSEMBL:ENSP00000344260.5"], "information_content": 95.4}
{"id": "NCBIGene:390259", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BSX", "equivalent_identifiers": ["NCBIGene:390259", "ENSEMBL:ENSG00000188909", "HGNC:20450", "OMIM:611074", "UMLS:C1970208", "UniProtKB:Q3C1V8", "PR:Q3C1V8", "ENSEMBL:ENSP00000344285", "ENSEMBL:ENSP00000344285.2", "UMLS:C2717435"], "information_content": 95.4}
{"id": "UniProtKB:O75665-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centriole and centriolar satellite protein OFD1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75665-1", "PR:O75665-1", "ENSEMBL:ENSP00000344314", "ENSEMBL:ENSP00000344314.6"], "information_content": 100.0}
{"id": "UniProtKB:Q0P6D2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "divergent protein kinase domain 1C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q0P6D2-1", "PR:Q0P6D2-1", "ENSEMBL:ENSP00000344331", "ENSEMBL:ENSP00000344331.6"], "information_content": 100.0}
{"id": "UniProtKB:P18847-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic AMP-dependent transcription factor ATF-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P18847-1", "PR:P18847-1", "ENSEMBL:ENSP00000344352", "ENSEMBL:ENSP00000344352.4", "ENSEMBL:ENSP00000355954", "ENSEMBL:ENSP00000355954.2"], "information_content": 100.0}
{"id": "NCBIGene:23059", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLUAP1", "equivalent_identifiers": ["NCBIGene:23059", "ENSEMBL:ENSG00000103351", "HGNC:19009", "OMIM:616787", "UMLS:C1539108", "UniProtKB:J3KNW5", "ENSEMBL:ENSP00000344392", "ENSEMBL:ENSP00000344392.5", "UMLS:C1870803", "MESH:C518614", "UniProtKB:Q96AJ1", "PR:Q96AJ1"]}
{"id": "NCBIGene:51077", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FCF1", "equivalent_identifiers": ["NCBIGene:51077", "ENSEMBL:ENSG00000119616", "HGNC:20220", "UMLS:C1426785", "UniProtKB:G3V1S4", "ENSEMBL:ENSP00000444939", "ENSEMBL:ENSP00000444939.2", "UMLS:C4276647", "MESH:C000609024", "UniProtKB:Q4FZ45", "UniProtKB:Q9Y324", "PR:Q9Y324", "ENSEMBL:ENSP00000344393", "ENSEMBL:ENSP00000344393.4"], "information_content": 95.4}
{"id": "UniProtKB:Q6ZN17-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein lin-28 homolog B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZN17-1", "PR:Q6ZN17-1", "ENSEMBL:ENSP00000344401", "ENSEMBL:ENSP00000344401.4"], "information_content": 100.0}
{"id": "NCBIGene:83756", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS1R3", "equivalent_identifiers": ["NCBIGene:83756", "ENSEMBL:ENSG00000169962", "HGNC:15661", "OMIM:605865", "UMLS:C1423638", "UniProtKB:Q7RTX0", "PR:Q7RTX0", "ENSEMBL:ENSP00000344411", "ENSEMBL:ENSP00000344411.5", "UMLS:C1176226"], "information_content": 95.4}
{"id": "NCBIGene:81850", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP1-3", "equivalent_identifiers": ["NCBIGene:81850", "ENSEMBL:ENSG00000221880", "HGNC:16771", "OMIM:608820", "UMLS:C1424531", "UniProtKB:Q8IUG1", "PR:Q8IUG1", "ENSEMBL:ENSP00000344420", "ENSEMBL:ENSP00000344420.5", "ENSEMBL:ENSP00000461303", "ENSEMBL:ENSP00000461303.1", "UMLS:C1453258", "MESH:C489804"], "information_content": 100.0}
{"id": "NCBIGene:9766", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUSD6", "equivalent_identifiers": ["NCBIGene:9766", "ENSEMBL:ENSG00000100647", "HGNC:19956", "OMIM:616761", "UMLS:C3889187", "UniProtKB:Q92537", "PR:Q92537", "ENSEMBL:ENSP00000344424", "ENSEMBL:ENSP00000344424.4", "UMLS:C2936088", "MESH:C551654"], "information_content": 95.4}
{"id": "MONDO:0000908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 13", "equivalent_identifiers": ["MONDO:0000908", "DOID:0110084", "OMIM:615616", "UMLS:C3810138", "NCIT:C176008", "medgen:816468"], "information_content": 100.0}
{"id": "NCBIGene:402778", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFITM10", "equivalent_identifiers": ["NCBIGene:402778", "ENSEMBL:ENSG00000244242", "HGNC:40022", "OMIM:618293", "UMLS:C3147645", "UniProtKB:A6NMD0", "PR:A6NMD0", "ENSEMBL:ENSP00000344430", "ENSEMBL:ENSP00000344430.4"], "information_content": 100.0}
{"id": "UniProtKB:P59910-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily B member 13 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P59910-1", "PR:P59910-1", "ENSEMBL:ENSP00000344431", "ENSEMBL:ENSP00000344431.1"], "information_content": 100.0}
{"id": "UniProtKB:Q18PE1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Dok-7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q18PE1-1", "PR:Q18PE1-1", "ENSEMBL:ENSP00000344432", "ENSEMBL:ENSP00000344432.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZV73-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FYVE, RhoGEF and PH domain-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZV73-1", "PR:Q6ZV73-1", "ENSEMBL:ENSP00000344446", "ENSEMBL:ENSP00000344446.4"], "information_content": 100.0}
{"id": "UniProtKB:P22891-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vitamin K-dependent protein Z isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P22891-2", "PR:P22891-2", "ENSEMBL:ENSP00000344458", "ENSEMBL:ENSP00000344458.4"], "information_content": 100.0}
{"id": "MONDO:0010149", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transcobalamin II deficiency", "equivalent_identifiers": ["MONDO:0010149", "DOID:0050818", "OMIM:275350", "orphanet:859", "UMLS:C0342701", "NCIT:C142806", "SNOMEDCT:237934001", "medgen:137976"], "information_content": 100.0}
{"id": "NCBIGene:375033", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PEAR1", "equivalent_identifiers": ["NCBIGene:375033", "ENSEMBL:ENSG00000187800", "HGNC:33631", "OMIM:610278", "UMLS:C1853216", "UniProtKB:Q5VY43", "PR:Q5VY43", "ENSEMBL:ENSP00000292357", "ENSEMBL:ENSP00000292357.7", "ENSEMBL:ENSP00000344465", "ENSEMBL:ENSP00000344465.3", "UMLS:C1609148", "MESH:C502809"], "information_content": 83.1}
{"id": "NCBIGene:9672", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDC3", "equivalent_identifiers": ["NCBIGene:9672", "ENSEMBL:ENSG00000162512", "HGNC:10660", "OMIM:186357", "UMLS:C1419893", "UniProtKB:O75056", "PR:O75056", "ENSEMBL:ENSP00000344468", "ENSEMBL:ENSP00000344468.6", "UMLS:C1608836", "MESH:C508301"], "information_content": 86.3}
{"id": "UniProtKB:P43354-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor subfamily 4 group A member 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P43354-1", "PR:P43354-1", "ENSEMBL:ENSP00000344479", "ENSEMBL:ENSP00000344479.4", "ENSEMBL:ENSP00000386747", "ENSEMBL:ENSP00000386747.1"], "information_content": 100.0}
{"id": "NCBIGene:56704", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JPH1", "equivalent_identifiers": ["NCBIGene:56704", "ENSEMBL:ENSG00000104369", "HGNC:14201", "OMIM:605266", "UMLS:C1422482", "UniProtKB:Q86VR1", "UniProtKB:Q9HDC5", "PR:Q9HDC5", "ENSEMBL:ENSP00000344488", "ENSEMBL:ENSP00000344488.4"], "information_content": 100.0}
{"id": "NCBIGene:168433", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF133", "equivalent_identifiers": ["NCBIGene:168433", "ENSEMBL:ENSG00000188050", "HGNC:21154", "OMIM:620556", "UMLS:C1427369", "UniProtKB:Q8WVZ7", "PR:Q8WVZ7", "ENSEMBL:ENSP00000344489", "ENSEMBL:ENSP00000344489.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5SNT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 201 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SNT2-1", "PR:Q5SNT2-1", "ENSEMBL:ENSP00000344503", "ENSEMBL:ENSP00000344503.6"], "information_content": 100.0}
{"id": "UniProtKB:P07305-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone H1.0 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P07305-1", "PR:P07305-1", "ENSEMBL:ENSP00000344504", "ENSEMBL:ENSP00000344504.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein Aiolos isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKT9-1", "PR:Q9UKT9-1", "ENSEMBL:ENSP00000344544", "ENSEMBL:ENSP00000344544.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TD33", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SG1C1_HUMAN Secretoglobin family 1C member 1 (sprot)", "equivalent_identifiers": ["UniProtKB:Q8TD33", "PR:Q8TD33", "ENSEMBL:ENSP00000344545", "ENSEMBL:ENSP00000344545.2"], "information_content": 100.0}
{"id": "UniProtKB:P06454-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prothymosin alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P06454-1", "PR:P06454-1", "ENSEMBL:ENSP00000344547", "ENSEMBL:ENSP00000344547.7"], "information_content": 100.0}
{"id": "UniProtKB:O95236-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apolipoprotein L3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95236-1", "PR:O95236-1", "ENSEMBL:ENSP00000344577", "ENSEMBL:ENSP00000344577.2"], "information_content": 100.0}
{"id": "MONDO:0010335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked cone-rod dystrophy 3", "equivalent_identifiers": ["MONDO:0010335", "DOID:0111007", "OMIM:300476", "UMLS:C1845407", "MESH:C564507", "medgen:336932"], "information_content": 100.0}
{"id": "MONDO:0011395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 3", "equivalent_identifiers": ["MONDO:0011395", "DOID:0111013", "OMIM:604116", "UMLS:C1858806", "MESH:C565827", "medgen:349030"], "information_content": 100.0}
{"id": "NCBIGene:84075", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FSCB", "equivalent_identifiers": ["NCBIGene:84075", "ENSEMBL:ENSG00000189139", "HGNC:20494", "OMIM:611779", "UMLS:C1539043", "UniProtKB:Q5H9T9", "PR:Q5H9T9", "ENSEMBL:ENSP00000344579", "ENSEMBL:ENSP00000344579.4"], "information_content": 100.0}
{"id": "MONDO:0000514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0000514", "DOID:0050896"], "information_content": 88.2}
{"id": "UniProtKB:Q14201-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein BTG3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q14201-2", "PR:Q14201-2", "ENSEMBL:ENSP00000344609", "ENSEMBL:ENSP00000344609.6"], "information_content": 100.0}
{"id": "UniProtKB:P51959-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-G1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51959-1", "PR:P51959-1", "ENSEMBL:ENSP00000344635", "ENSEMBL:ENSP00000344635.2", "ENSEMBL:ENSP00000520877", "ENSEMBL:ENSP00000520877.1"], "information_content": 100.0}
{"id": "NCBIGene:54020", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC37A1", "equivalent_identifiers": ["NCBIGene:54020", "ENSEMBL:ENSG00000160190", "HGNC:11024", "OMIM:608094", "UMLS:C1420190", "UniProtKB:P57057", "PR:P57057", "ENSEMBL:ENSP00000344648", "ENSEMBL:ENSP00000344648.2", "ENSEMBL:ENSP00000381383", "ENSEMBL:ENSP00000381383.3", "UMLS:C1447010", "MESH:C036527"], "information_content": 95.4}
{"id": "MONDO:0018542", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe congenital neutropenia", "equivalent_identifiers": ["MONDO:0018542", "DOID:0050590", "OMIM.PS:202700", "orphanet:42738", "UMLS:C0340970", "UMLS:C1853118", "UMLS:C4551555", "MEDDRA:10052210", "MEDDRA:10052213", "MEDDRA:10069819", "NCIT:C166152", "SNOMEDCT:89655007", "medgen:343974", "ICD10:D70", "HP:0005541"], "information_content": 81.3}
{"id": "UniProtKB:P35240-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "merlin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35240-1", "PR:P35240-1", "ENSEMBL:ENSP00000344666", "ENSEMBL:ENSP00000344666.5"], "information_content": 100.0}
{"id": "MONDO:0002100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiovascular cancer", "equivalent_identifiers": ["MONDO:0002100", "DOID:176", "UMLS:C3898472", "NCIT:C114940", "medgen:858066"], "information_content": 65.5}
{"id": "MONDO:0007176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "helicoid peripapillary chorioretinal degeneration", "equivalent_identifiers": ["MONDO:0007176", "DOID:0111228", "OMIM:108985", "orphanet:86813", "UMLS:C1862382", "MESH:C566236", "SNOMEDCT:724384008", "medgen:354733", "icd11.foundation:896652469"], "information_content": 100.0}
{"id": "UniProtKB:Q13268-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dehydrogenase/reductase SDR family member 2, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13268-2", "PR:Q13268-2", "ENSEMBL:ENSP00000344674", "ENSEMBL:ENSP00000344674.7", "ENSEMBL:ENSP00000481607", "ENSEMBL:ENSP00000481607.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96NM4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TOX high mobility group box family member 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96NM4-4", "PR:Q96NM4-4", "ENSEMBL:ENSP00000344724", "ENSEMBL:ENSP00000344724.3"], "information_content": 100.0}
{"id": "UniProtKB:O15503-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "insulin-induced gene 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15503-1", "PR:O15503-1", "ENSEMBL:ENSP00000344741", "ENSEMBL:ENSP00000344741.4"], "information_content": 100.0}
{"id": "UniProtKB:Q494V2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 100 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q494V2-1", "PR:Q494V2-1", "ENSEMBL:ENSP00000344749", "ENSEMBL:ENSP00000344749.1"], "information_content": 100.0}
{"id": "UniProtKB:O94769-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "extracellular matrix protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94769-1", "PR:O94769-1", "ENSEMBL:ENSP00000344758", "ENSEMBL:ENSP00000344758.5", "ENSEMBL:ENSP00000516827", "ENSEMBL:ENSP00000516827.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5VTD9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein Gfi-1b isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VTD9-1", "PR:Q5VTD9-1", "ENSEMBL:ENSP00000344782", "ENSEMBL:ENSP00000344782.3", "ENSEMBL:ENSP00000361195", "ENSEMBL:ENSP00000361195.1"], "information_content": 100.0}
{"id": "UniProtKB:O94856-9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurofascin isoform 9 (human)", "equivalent_identifiers": ["UniProtKB:O94856-9", "PR:O94856-9", "ENSEMBL:ENSP00000344786", "ENSEMBL:ENSP00000344786.6", "ENSEMBL:ENSP00000385637", "ENSEMBL:ENSP00000385637.1"], "information_content": 100.0}
{"id": "NCBIGene:162966", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF600", "equivalent_identifiers": ["NCBIGene:162966", "ENSEMBL:ENSG00000189190", "HGNC:30951", "UMLS:C1429020", "UniProtKB:A0A3B3IT03", "ENSEMBL:ENSP00000497540", "ENSEMBL:ENSP00000497540.1", "ENSEMBL:ENSP00000509267", "ENSEMBL:ENSP00000509267.1", "ENSEMBL:ENSP00000509375", "ENSEMBL:ENSP00000509375.1", "ENSEMBL:ENSP00000510246", "ENSEMBL:ENSP00000510246.1", "UniProtKB:Q6ZNG1", "PR:Q6ZNG1", "ENSEMBL:ENSP00000344791", "ENSEMBL:ENSP00000344791.2"], "information_content": 90.9}
{"id": "UniProtKB:Q9NZB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "molybdenum cofactor biosynthesis protein 1 isoform MOCS1B (human)", "equivalent_identifiers": ["UniProtKB:Q9NZB8-1", "PR:Q9NZB8-1", "ENSEMBL:ENSP00000344794", "ENSEMBL:ENSP00000344794.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UI40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/potassium/calcium exchanger 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UI40-1", "PR:Q9UI40-1", "ENSEMBL:ENSP00000344801", "ENSEMBL:ENSP00000344801.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NW68-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BSD domain-containing protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NW68-3", "PR:Q9NW68-3", "ENSEMBL:ENSP00000344816", "ENSEMBL:ENSP00000344816.7"], "information_content": 100.0}
{"id": "UniProtKB:Q96DZ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CKLF-like MARVEL transmembrane domain-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DZ9-1", "PR:Q96DZ9-1", "ENSEMBL:ENSP00000344819", "ENSEMBL:ENSP00000344819.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2U2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium channel subfamily K member 7 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2U2-1", "PR:Q9Y2U2-1", "ENSEMBL:ENSP00000344820", "ENSEMBL:ENSP00000344820.5"], "information_content": 100.0}
{"id": "NCBIGene:339500", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF678", "equivalent_identifiers": ["NCBIGene:339500", "ENSEMBL:ENSG00000181450", "HGNC:28652", "UMLS:C1538241", "UniProtKB:Q5SXM1", "PR:Q5SXM1", "ENSEMBL:ENSP00000344828", "ENSEMBL:ENSP00000344828.4", "ENSEMBL:ENSP00000440403", "ENSEMBL:ENSP00000440403.2", "UMLS:C3541294"], "information_content": 100.0}
{"id": "MONDO:0001896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "obstructive hydrocephalus", "equivalent_identifiers": ["MONDO:0001896", "DOID:14159", "UMLS:C0270717", "UMLS:C0549423", "MEDDRA:10020516", "MEDDRA:10029981", "MEDDRA:10076690", "NCIT:C116347", "SNOMEDCT:230746009", "SNOMEDCT:82346000", "medgen:108198", "ICD10:G91.1", "ICD9:331.4", "HP:0010953"], "information_content": 100.0}
{"id": "UniProtKB:Q16769-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutaminyl-peptide cyclotransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16769-1", "PR:Q16769-1", "ENSEMBL:ENSP00000344829", "ENSEMBL:ENSP00000344829.3"], "information_content": 100.0}
{"id": "NCBIGene:144699", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXL14", "equivalent_identifiers": ["NCBIGene:144699", "ENSEMBL:ENSG00000171823", "HGNC:28624", "OMIM:609081", "UMLS:C1428723", "UniProtKB:Q8N1E6", "PR:Q8N1E6", "ENSEMBL:ENSP00000344855", "ENSEMBL:ENSP00000344855.3", "UMLS:C2932231", "MESH:C547521"], "information_content": 95.4}
{"id": "NCBIGene:388555", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGFL3", "equivalent_identifiers": ["NCBIGene:388555", "ENSEMBL:ENSG00000188624", "HGNC:32930", "OMIM:610546", "UMLS:C1825583", "UniProtKB:Q6UXB1", "PR:Q6UXB1", "ENSEMBL:ENSP00000344860", "ENSEMBL:ENSP00000344860.2"], "information_content": 100.0}
{"id": "MONDO:0007986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "metatropic dysplasia", "equivalent_identifiers": ["MONDO:0007986", "DOID:0111514", "OMIM:156530", "orphanet:2635", "UMLS:C0265281", "MESH:C537356", "MEDDRA:10082970", "MEDDRA:10082982", "NCIT:C175209", "SNOMEDCT:22764001", "medgen:82699"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/LRR-repeat protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKA1-1", "PR:Q9UKA1-1", "ENSEMBL:ENSP00000344866", "ENSEMBL:ENSP00000344866.3"], "information_content": 100.0}
{"id": "NCBIGene:7975", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAFK", "equivalent_identifiers": ["NCBIGene:7975", "ENSEMBL:ENSG00000198517", "HGNC:6782", "OMIM:600197", "UMLS:C1416968", "UniProtKB:O60675", "PR:O60675", "ENSEMBL:ENSP00000344903", "ENSEMBL:ENSP00000344903.4", "ENSEMBL:ENSP00000385437", "ENSEMBL:ENSP00000385437.2", "ENSEMBL:ENSP00000386009", "ENSEMBL:ENSP00000386009.1", "UMLS:C1530725", "MESH:C494695"], "information_content": 95.4}
{"id": "NCBIGene:128817", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSTL1", "equivalent_identifiers": ["NCBIGene:128817", "ENSEMBL:ENSG00000125823", "HGNC:15958", "UMLS:C1423862", "UniProtKB:Q9H114", "PR:Q9H114", "ENSEMBL:ENSP00000246020", "ENSEMBL:ENSP00000246020.2", "ENSEMBL:ENSP00000344907", "ENSEMBL:ENSP00000344907.1"], "information_content": 100.0}
{"id": "MONDO:0000530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rectum adenoma", "equivalent_identifiers": ["MONDO:0000530", "DOID:0050915", "UMLS:C1302652", "MEDDRA:10048829", "NCIT:C5546", "SNOMEDCT:399730005", "medgen:266267"], "information_content": 85.5}
{"id": "NCBIGene:128859", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BPIFB6", "equivalent_identifiers": ["NCBIGene:128859", "ENSEMBL:ENSG00000167104", "HGNC:16504", "OMIM:614110", "UMLS:C1424336", "UniProtKB:Q8NFQ5", "PR:Q8NFQ5", "ENSEMBL:ENSP00000344929", "ENSEMBL:ENSP00000344929.1", "UMLS:C1143860", "MESH:C466098"], "information_content": 90.9}
{"id": "UniProtKB:Q6ZPD9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein C-mannosyl-transferase DPY19L3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZPD9-1", "PR:Q6ZPD9-1", "ENSEMBL:ENSP00000344937", "ENSEMBL:ENSP00000344937.4", "ENSEMBL:ENSP00000376081", "ENSEMBL:ENSP00000376081.2"], "information_content": 100.0}
{"id": "NCBIGene:84747", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UNC119B", "equivalent_identifiers": ["NCBIGene:84747", "ENSEMBL:ENSG00000175970", "HGNC:16488", "OMIM:620513", "UMLS:C1424320", "UniProtKB:A6NIH7", "PR:A6NIH7", "ENSEMBL:ENSP00000344942", "ENSEMBL:ENSP00000344942.4"], "information_content": 92.8}
{"id": "NCBIGene:81848", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPRY4", "equivalent_identifiers": ["NCBIGene:81848", "ENSEMBL:ENSG00000187678", "HGNC:15533", "OMIM:607984", "UMLS:C1423560", "UniProtKB:A0A0C4DFS6", "ENSEMBL:ENSP00000344967", "ENSEMBL:ENSP00000344967.4", "UMLS:C1450261", "MESH:C499038", "UniProtKB:Q9C004", "PR:Q9C004", "UMLS:C3542431"]}
{"id": "UniProtKB:Q5D0E6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DALR anticodon-binding domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5D0E6-1", "PR:Q5D0E6-1", "ENSEMBL:ENSP00000344989", "ENSEMBL:ENSP00000344989.4"], "information_content": 100.0}
{"id": "MONDO:0013127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asphyxiating thoracic dystrophy 3", "equivalent_identifiers": ["MONDO:0013127", "DOID:0110087", "OMIM:613091", "orphanet:93270", "orphanet:93271", "UMLS:C0036069", "UMLS:C0432197", "MESH:C537602", "NCIT:C163755", "SNOMEDCT:254051008", "SNOMEDCT:726032008", "medgen:19860"], "information_content": 100.0}
{"id": "NCBIGene:342979", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PALM3", "equivalent_identifiers": ["NCBIGene:342979", "ENSEMBL:ENSG00000187867", "HGNC:33274", "OMIM:621051", "UMLS:C2829991", "UniProtKB:A0A590UJ36", "ENSEMBL:ENSP00000499271", "ENSEMBL:ENSP00000499271.1", "ENSEMBL:ENSP00000499805", "ENSEMBL:ENSP00000499805.1", "UniProtKB:A6NDB9", "PR:A6NDB9", "ENSEMBL:ENSP00000344996", "ENSEMBL:ENSP00000344996.3", "ENSEMBL:ENSP00000500424", "ENSEMBL:ENSP00000500424.1", "UMLS:C3180077", "MESH:C556449", "UniProtKB:K7EKN5", "ENSEMBL:ENSP00000465701", "ENSEMBL:ENSP00000465701.2", "ENSEMBL:ENSP00000500371", "ENSEMBL:ENSP00000500371.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UUV9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CREB-regulated transcription coactivator 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6UUV9-2", "PR:Q6UUV9-2", "ENSEMBL:ENSP00000345001", "ENSEMBL:ENSP00000345001.5"], "information_content": 100.0}
{"id": "MONDO:0006864", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "necrotizing sialometaplasia", "equivalent_identifiers": ["MONDO:0006864", "DOID:12901", "EFO:1001057", "UMLS:C0037033", "MESH:D012797", "MEDDRA:10072173", "MEDDRA:10072176", "NCIT:C201845", "SNOMEDCT:109769000", "medgen:48659"], "information_content": 100.0}
{"id": "MONDO:0006451", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type C thymoma", "equivalent_identifiers": ["MONDO:0006451", "DOID:3284", "DOID:4554", "orphanet:99868", "EFO:1000576", "UMLS:C0205969", "UMLS:C1322286", "UMLS:CN207411", "MEDDRA:10043673", "MEDDRA:10061031", "MEDDRA:10087220", "NCIT:C7569", "NCIT:C7612", "SNOMEDCT:128717008", "SNOMEDCT:15949004", "SNOMEDCT:444374006", "SNOMEDCT:444596001", "medgen:60049", "icd11.foundation:1351671383"], "information_content": 78.5}
{"id": "MONDO:0002831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-keratinizing sinonasal squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0002831", "DOID:4003", "UMLS:C0334270", "NCIT:C54287", "SNOMEDCT:5600009", "medgen:83119"], "information_content": 92.8}
{"id": "NCBIGene:10516", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBLN5", "equivalent_identifiers": ["NCBIGene:10516", "ENSEMBL:ENSG00000140092", "HGNC:3602", "OMIM:604580", "UMLS:C1414541", "UniProtKB:A0A024R6G3", "UMLS:C1452862", "MESH:C492373", "UniProtKB:A0A9L9PXD9", "ENSEMBL:ENSP00000516493", "ENSEMBL:ENSP00000516493.1", "UniProtKB:G3V2P8", "ENSEMBL:ENSP00000450787", "ENSEMBL:ENSP00000450787.2", "ENSEMBL:ENSP00000516494", "ENSEMBL:ENSP00000516494.1", "UniProtKB:G3V4U0", "ENSEMBL:ENSP00000451982", "ENSEMBL:ENSP00000451982.2", "UniProtKB:G3XA98", "ENSEMBL:ENSP00000267620", "ENSEMBL:ENSP00000267620.10", "UniProtKB:Q9UBX5", "PR:Q9UBX5", "ENSEMBL:ENSP00000345008", "ENSEMBL:ENSP00000345008.4"], "information_content": 89.4}
{"id": "UniProtKB:Q9H4Y5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione S-transferase omega-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4Y5-1", "PR:Q9H4Y5-1", "ENSEMBL:ENSP00000345023", "ENSEMBL:ENSP00000345023.1"], "information_content": 100.0}
{"id": "NCBIGene:2738", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLI4", "equivalent_identifiers": ["NCBIGene:2738", "ENSEMBL:ENSG00000250571", "HGNC:4320", "OMIM:165280", "UMLS:C1415103", "UniProtKB:P10075", "PR:P10075", "ENSEMBL:ENSP00000345024", "ENSEMBL:ENSP00000345024.1", "ENSEMBL:ENSP00000430987", "ENSEMBL:ENSP00000430987.1", "UMLS:C1956621", "MESH:C519348"], "information_content": 92.8}
{"id": "UniProtKB:Q9NR82-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium voltage-gated channel subfamily KQT member 5 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR82-6", "PR:Q9NR82-6", "ENSEMBL:ENSP00000345055", "ENSEMBL:ENSP00000345055.2"], "information_content": 100.0}
{"id": "NCBIGene:144165", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRICKLE1", "equivalent_identifiers": ["NCBIGene:144165", "ENSEMBL:ENSG00000139174", "HGNC:17019", "OMIM:608500", "UMLS:C1424690", "UniProtKB:B3KVG3", "UMLS:C1872988", "MESH:C515173", "UniProtKB:B3KVG6", "UniProtKB:Q96MT3", "PR:Q96MT3", "ENSEMBL:ENSP00000345064", "ENSEMBL:ENSP00000345064.3", "ENSEMBL:ENSP00000398947", "ENSEMBL:ENSP00000398947.2", "ENSEMBL:ENSP00000401060", "ENSEMBL:ENSP00000401060.1", "ENSEMBL:ENSP00000448359", "ENSEMBL:ENSP00000448359.1", "ENSEMBL:ENSP00000449819", "ENSEMBL:ENSP00000449819.1", "ENSEMBL:ENSP00000491051", "ENSEMBL:ENSP00000491051.1", "ENSEMBL:ENSP00000491228", "ENSEMBL:ENSP00000491228.1", "ENSEMBL:ENSP00000492332", "ENSEMBL:ENSP00000492332.1", "ENSEMBL:ENSP00000492644", "ENSEMBL:ENSP00000492644.1", "ENSEMBL:ENSP00000492763", "ENSEMBL:ENSP00000492763.1", "UMLS:C4284142"], "information_content": 95.4}
{"id": "UniProtKB:P46734-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity mitogen-activated protein kinase kinase 3 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:P46734-1", "PR:P46734-1", "ENSEMBL:ENSP00000345083", "ENSEMBL:ENSP00000345083.4"], "information_content": 100.0}
{"id": "UniProtKB:P20839-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inosine-5'-monophosphate dehydrogenase 1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:P20839-6", "PR:P20839-6", "ENSEMBL:ENSP00000345096", "ENSEMBL:ENSP00000345096.6"], "information_content": 100.0}
{"id": "NCBIGene:374872", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PEAK3", "equivalent_identifiers": ["NCBIGene:374872", "ENSEMBL:ENSG00000188305", "HGNC:24793", "OMIM:618526", "UMLS:C1540287", "UniProtKB:Q6ZS72", "PR:Q6ZS72", "ENSEMBL:ENSP00000345102", "ENSEMBL:ENSP00000345102.3", "UMLS:C5391548", "MESH:C000706067"], "information_content": 100.0}
{"id": "MONDO:0010687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephrolithiasis, X-linked recessive, with renal failure", "equivalent_identifiers": ["MONDO:0010687", "DOID:0111798", "OMIM:310468", "UMLS:C0403720", "MESH:C562901", "SNOMEDCT:236713006", "medgen:96047"], "information_content": 100.0}
{"id": "NCBIGene:84281", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AKAP19", "equivalent_identifiers": ["NCBIGene:84281", "ENSEMBL:ENSG00000187699", "HGNC:28191", "OMIM:615117", "UMLS:C2681212", "UniProtKB:Q9BSF0", "PR:Q9BSF0", "ENSEMBL:ENSP00000345107", "ENSEMBL:ENSP00000345107.4", "ENSEMBL:ENSP00000380172", "ENSEMBL:ENSP00000380172.2", "ENSEMBL:ENSP00000386649", "ENSEMBL:ENSP00000386649.1", "ENSEMBL:ENSP00000405225", "ENSEMBL:ENSP00000405225.2"], "information_content": 100.0}
{"id": "NCBIGene:55561", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC42BPG", "equivalent_identifiers": ["NCBIGene:55561", "ENSEMBL:ENSG00000171219", "HGNC:29829", "OMIM:613991", "UMLS:C1540302", "UniProtKB:Q6DT37", "PR:Q6DT37", "ENSEMBL:ENSP00000345133", "ENSEMBL:ENSP00000345133.5", "UMLS:C1506612", "MESH:C490364"], "information_content": 92.8}
{"id": "NCBIGene:729974", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RFPL4AL1", "equivalent_identifiers": ["NCBIGene:729974", "ENSEMBL:ENSG00000229292", "HGNC:45147", "UMLS:C3540227", "UniProtKB:F8VTS6", "PR:F8VTS6", "ENSEMBL:ENSP00000345151", "ENSEMBL:ENSP00000345151.5"], "information_content": 100.0}
{"id": "MONDO:0006597", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "photosensitivity disease", "equivalent_identifiers": ["MONDO:0006597", "DOID:3159", "EFO:1000752", "UMLS:C0031762", "MESH:D010787", "SNOMEDCT:22649008", "medgen:19281"], "information_content": 89.4}
{"id": "NCBIGene:347", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOD", "equivalent_identifiers": ["NCBIGene:347", "ENSEMBL:ENSG00000189058", "HGNC:612", "OMIM:107740", "UMLS:C1412480", "UniProtKB:P05090", "PR:P05090", "ENSEMBL:ENSP00000345179", "ENSEMBL:ENSP00000345179.3", "UMLS:C0072090", "MESH:C024328"], "information_content": 78.0}
{"id": "UniProtKB:Q96PB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "noelin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PB7-1", "PR:Q96PB7-1", "ENSEMBL:ENSP00000345192", "ENSEMBL:ENSP00000345192.5"], "information_content": 100.0}
{"id": "NCBIGene:22941", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SHANK2", "equivalent_identifiers": ["NCBIGene:22941", "ENSEMBL:ENSG00000162105", "HGNC:14295", "OMIM:603290", "UMLS:C1422551", "UniProtKB:A0A590UJ45", "ENSEMBL:ENSP00000499270", "ENSEMBL:ENSP00000499270.1", "UniProtKB:A6NHU9", "ENSEMBL:ENSP00000345193", "ENSEMBL:ENSP00000345193.7", "UniProtKB:Q9UPX8", "PR:Q9UPX8", "UMLS:C1438514", "MESH:C122162"]}
{"id": "NCBIGene:29978", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBQLN2", "equivalent_identifiers": ["NCBIGene:29978", "ENSEMBL:ENSG00000188021", "HGNC:12509", "OMIM:300264", "UMLS:C1421305", "UniProtKB:Q9UHD9", "PR:Q9UHD9", "ENSEMBL:ENSP00000345195", "ENSEMBL:ENSP00000345195.5", "UMLS:C1438839", "UMLS:C3539718", "MESH:C405662"], "information_content": 90.9}
{"id": "UniProtKB:Q06330-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "recombining binding protein suppressor of hairless isoform hAPCR-2 (human)", "equivalent_identifiers": ["UniProtKB:Q06330-1", "PR:Q06330-1", "ENSEMBL:ENSP00000345206", "ENSEMBL:ENSP00000345206.1", "ENSEMBL:ENSP00000354528", "ENSEMBL:ENSP00000354528.6", "ENSEMBL:ENSP00000423644", "ENSEMBL:ENSP00000423644.2"], "information_content": 100.0}
{"id": "UniProtKB:Q70EL1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 54 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q70EL1-1", "PR:Q70EL1-1", "ENSEMBL:ENSP00000345216", "ENSEMBL:ENSP00000345216.4", "ENSEMBL:ENSP00000510226", "ENSEMBL:ENSP00000510226.1"], "information_content": 100.0}
{"id": "NCBIGene:92737", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNER", "equivalent_identifiers": ["NCBIGene:92737", "ENSEMBL:ENSG00000187957", "HGNC:24456", "OMIM:607299", "UMLS:C1824952", "UniProtKB:Q8NFT8", "PR:Q8NFT8", "ENSEMBL:ENSP00000345229", "ENSEMBL:ENSP00000345229.4", "UMLS:C1257727", "MESH:C462501"], "information_content": 88.2}
{"id": "UniProtKB:Q96LC7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialic acid-binding Ig-like lectin 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LC7-1", "PR:Q96LC7-1", "ENSEMBL:ENSP00000345243", "ENSEMBL:ENSP00000345243.4"], "information_content": 100.0}
{"id": "UniProtKB:P11171-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein 4.1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11171-1", "PR:P11171-1", "ENSEMBL:ENSP00000345259", "ENSEMBL:ENSP00000345259.4", "ENSEMBL:ENSP00000362904", "ENSEMBL:ENSP00000362904.1"], "information_content": 100.0}
{"id": "NCBIGene:51304", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZDHHC3", "equivalent_identifiers": ["NCBIGene:51304", "ENSEMBL:ENSG00000163812", "HGNC:18470", "OMIM:617150", "UMLS:C1425535", "UniProtKB:A0A994J7J2", "ENSEMBL:ENSP00000516198", "ENSEMBL:ENSP00000516198.1", "UniProtKB:F8W6M3", "ENSEMBL:ENSP00000345268", "ENSEMBL:ENSP00000345268.4", "UMLS:C3494124", "MESH:C574550", "UniProtKB:H0Y6A5", "ENSEMBL:ENSP00000404108", "ENSEMBL:ENSP00000404108.2", "UniProtKB:Q9NYG2", "PR:Q9NYG2"]}
{"id": "NCBIGene:4248", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MGAT3", "equivalent_identifiers": ["NCBIGene:4248", "ENSEMBL:ENSG00000128268", "HGNC:7046", "OMIM:604621", "UMLS:C1417135", "UniProtKB:Q09327", "PR:Q09327", "ENSEMBL:ENSP00000345270", "ENSEMBL:ENSP00000345270.6", "UMLS:C1622775"], "information_content": 95.4}
{"id": "UniProtKB:Q8TD30-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alanine aminotransferase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TD30-1", "PR:Q8TD30-1", "ENSEMBL:ENSP00000345282", "ENSEMBL:ENSP00000345282.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9UGV2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein NDRG3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGV2-1", "PR:Q9UGV2-1", "ENSEMBL:ENSP00000345292", "ENSEMBL:ENSP00000345292.1"], "information_content": 100.0}
{"id": "MONDO:0018995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4", "equivalent_identifiers": ["MONDO:0018995", "DOID:0050541", "orphanet:64749", "UMLS:C4082197", "SNOMEDCT:715795005", "medgen:905419"], "information_content": 83.1}
{"id": "UniProtKB:Q5SQS7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH2 domain-containing protein 4B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5SQS7-2", "PR:Q5SQS7-2", "ENSEMBL:ENSP00000345295", "ENSEMBL:ENSP00000345295.2"], "information_content": 100.0}
{"id": "MONDO:0014470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 65", "equivalent_identifiers": ["MONDO:0014470", "DOID:0110586", "OMIM:616044", "UMLS:C3892048", "medgen:856147"], "information_content": 100.0}
{"id": "MONDO:0013471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 61", "equivalent_identifiers": ["MONDO:0013471", "DOID:0110513", "OMIM:613865", "UMLS:C3151230", "medgen:462580"], "information_content": 100.0}
{"id": "NCBIGene:80142", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTGES2", "equivalent_identifiers": ["NCBIGene:80142", "ENSEMBL:ENSG00000148334", "HGNC:17822", "OMIM:608152", "UMLS:C1425104", "UniProtKB:A0A7I2V5X6", "ENSEMBL:ENSP00000504746", "ENSEMBL:ENSP00000504746.1", "UniProtKB:A6NHH0", "ENSEMBL:ENSP00000277462", "ENSEMBL:ENSP00000277462.5", "ENSEMBL:ENSP00000482913", "ENSEMBL:ENSP00000482913.1", "ENSEMBL:ENSP00000503821", "ENSEMBL:ENSP00000503821.1", "UMLS:C4308042", "MESH:C000605863", "UniProtKB:B3KPZ2", "UniProtKB:B4DWP1", "UniProtKB:Q9H7Z7", "PR:Q9H7Z7", "ENSEMBL:ENSP00000345341", "ENSEMBL:ENSP00000345341.6", "UMLS:C4082991"], "information_content": 95.4}
{"id": "UniProtKB:P07711-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "procathepsin L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P07711-1", "PR:P07711-1", "ENSEMBL:ENSP00000345344", "ENSEMBL:ENSP00000345344.5", "ENSEMBL:ENSP00000365061", "ENSEMBL:ENSP00000365061.5", "ENSEMBL:ENSP00000502901", "ENSEMBL:ENSP00000502901.1", "ENSEMBL:ENSP00000502968", "ENSEMBL:ENSP00000502968.1", "ENSEMBL:ENSP00000503298", "ENSEMBL:ENSP00000503298.1", "ENSEMBL:ENSP00000503439", "ENSEMBL:ENSP00000503439.1", "ENSEMBL:ENSP00000503470", "ENSEMBL:ENSP00000503470.1", "ENSEMBL:ENSP00000503851", "ENSEMBL:ENSP00000503851.1", "ENSEMBL:ENSP00000503897", "ENSEMBL:ENSP00000503897.1", "ENSEMBL:ENSP00000503938", "ENSEMBL:ENSP00000503938.1", "ENSEMBL:ENSP00000504279", "ENSEMBL:ENSP00000504279.1", "ENSEMBL:ENSP00000504313", "ENSEMBL:ENSP00000504313.1"], "information_content": 100.0}
{"id": "NCBIGene:3146", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMGB1", "equivalent_identifiers": ["NCBIGene:3146", "ENSEMBL:ENSG00000189403", "HGNC:4983", "OMIM:163905", "UMLS:C1333908", "UniProtKB:B7Z965", "UniProtKB:P09429", "PR:P09429", "ENSEMBL:ENSP00000343040", "ENSEMBL:ENSP00000343040.4", "ENSEMBL:ENSP00000345347", "ENSEMBL:ENSP00000345347.5", "ENSEMBL:ENSP00000382417", "ENSEMBL:ENSP00000382417.1", "ENSEMBL:ENSP00000384678", "ENSEMBL:ENSP00000384678.1", "UMLS:C3710671", "MESH:C585491", "UniProtKB:Q5T7C4", "ENSEMBL:ENSP00000369904", "ENSEMBL:ENSP00000369904.1", "ENSEMBL:ENSP00000382412", "ENSEMBL:ENSP00000382412.1"], "information_content": 90.9}
{"id": "NCBIGene:81873", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARPC5L", "equivalent_identifiers": ["NCBIGene:81873", "ENSEMBL:ENSG00000136950", "HGNC:23366", "UMLS:C1428052", "UniProtKB:A0A024R897", "UniProtKB:B3KPC7", "UniProtKB:Q9BPX5", "PR:Q9BPX5", "ENSEMBL:ENSP00000259477", "ENSEMBL:ENSP00000259477.6", "ENSEMBL:ENSP00000345361", "ENSEMBL:ENSP00000345361.2"], "information_content": 92.8}
{"id": "MONDO:0015148", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 3", "equivalent_identifiers": ["MONDO:0015148", "DOID:0112232", "orphanet:102011", "UMLS:C1969029", "SNOMEDCT:1003444000", "medgen:369910", "icd11.foundation:1533765623"], "information_content": 86.3}
{"id": "NCBIGene:285093", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTP5", "equivalent_identifiers": ["NCBIGene:285093", "ENSEMBL:ENSG00000188011", "HGNC:26585", "UMLS:C3470012", "UniProtKB:Q14D33", "PR:Q14D33", "ENSEMBL:ENSP00000345374", "ENSEMBL:ENSP00000345374.3", "ENSEMBL:ENSP00000482049", "ENSEMBL:ENSP00000482049.1"], "information_content": 100.0}
{"id": "MONDO:0012753", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 9", "equivalent_identifiers": ["MONDO:0012753", "DOID:0060200", "OMIM:611895", "UMLS:C2678468", "MESH:C567499", "SNOMEDCT:1204351003", "medgen:395629"], "information_content": 100.0}
{"id": "MONDO:0012790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 10", "equivalent_identifiers": ["MONDO:0012790", "DOID:0060201", "OMIM:612069", "UMLS:C2677565", "UMLS:C3148872", "UMLS:C3150169", "UMLS:C3150171", "MESH:C567429", "NCIT:C168752", "SNOMEDCT:1208412003", "medgen:383137"], "information_content": 100.0}
{"id": "MONDO:0011952", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 7", "equivalent_identifiers": ["MONDO:0011952", "DOID:0060199", "OMIM:608031", "UMLS:C1842674", "MESH:C564300", "SNOMEDCT:1204349002", "medgen:334136"], "information_content": 100.0}
{"id": "MONDO:0013264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 12", "equivalent_identifiers": ["MONDO:0013264", "DOID:0060203", "OMIM:613435", "UMLS:C3150692", "medgen:462042"], "information_content": 100.0}
{"id": "UniProtKB:O95428-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "papilin isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:O95428-6", "PR:O95428-6", "ENSEMBL:ENSP00000345395", "ENSEMBL:ENSP00000345395.5"], "information_content": 100.0}
{"id": "UniProtKB:Q2MJR0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sprouty-related, EVH1 domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2MJR0-1", "PR:Q2MJR0-1", "ENSEMBL:ENSP00000345405", "ENSEMBL:ENSP00000345405.4", "ENSEMBL:ENSP00000466568", "ENSEMBL:ENSP00000466568.1", "ENSEMBL:ENSP00000510478", "ENSEMBL:ENSP00000510478.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N684-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cleavage and polyadenylation specificity factor subunit 7 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N684-3", "PR:Q8N684-3", "ENSEMBL:ENSP00000345412", "ENSEMBL:ENSP00000345412.4"], "information_content": 100.0}
{"id": "NCBIGene:121549", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASCL4", "equivalent_identifiers": ["NCBIGene:121549", "ENSEMBL:ENSG00000187855", "HGNC:24311", "OMIM:609155", "UMLS:C1540208", "UniProtKB:Q6XD76", "PR:Q6XD76", "ENSEMBL:ENSP00000345420", "ENSEMBL:ENSP00000345420.5", "UMLS:C1567573", "MESH:C499123"], "information_content": 100.0}
{"id": "NCBIGene:57524", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CASKIN1", "equivalent_identifiers": ["NCBIGene:57524", "ENSEMBL:ENSG00000167971", "HGNC:20879", "OMIM:612184", "UMLS:C1427185", "UniProtKB:Q8WXD9", "PR:Q8WXD9", "ENSEMBL:ENSP00000345436", "ENSEMBL:ENSP00000345436.6", "UMLS:C1432723", "MESH:C473247"], "information_content": 100.0}
{"id": "NCBIGene:25813", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAMM50", "equivalent_identifiers": ["NCBIGene:25813", "ENSEMBL:ENSG00000100347", "HGNC:24276", "OMIM:612058", "UMLS:C1826973", "UniProtKB:Q9Y512", "PR:Q9Y512", "ENSEMBL:ENSP00000345445", "ENSEMBL:ENSP00000345445.4", "UMLS:C1999949", "MESH:C522815"], "information_content": 100.0}
{"id": "NCBIGene:378884", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NHLRC1", "equivalent_identifiers": ["NCBIGene:378884", "ENSEMBL:ENSG00000187566", "HGNC:21576", "OMIM:608072", "UMLS:C1427623", "UniProtKB:Q6VVB1", "PR:Q6VVB1", "ENSEMBL:ENSP00000345464", "ENSEMBL:ENSP00000345464.3", "UMLS:C1313255", "MESH:C478960"], "information_content": 92.8}
{"id": "MONDO:0000265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aspiration pneumonia", "equivalent_identifiers": ["MONDO:0000265", "DOID:0050152", "UMLS:C0032290", "MESH:D011015", "MEDDRA:10003525", "MEDDRA:10022026", "MEDDRA:10022027", "MEDDRA:10035669", "SNOMEDCT:422588002", "medgen:10814", "ICD10:J69.0", "HP:0011951"], "information_content": 92.8}
{"id": "NCBIGene:120935", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC38", "equivalent_identifiers": ["NCBIGene:120935", "ENSEMBL:ENSG00000165972", "HGNC:26843", "UMLS:C1824562", "UniProtKB:Q502W7", "PR:Q502W7", "ENSEMBL:ENSP00000345470", "ENSEMBL:ENSP00000345470.3", "UMLS:C3886410", "MESH:C000593044"], "information_content": 100.0}
{"id": "UniProtKB:Q96SQ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 587 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96SQ5-1", "PR:Q96SQ5-1", "ENSEMBL:ENSP00000345479", "ENSEMBL:ENSP00000345479.4"], "information_content": 100.0}
{"id": "NCBIGene:56123", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCDHB13", "equivalent_identifiers": ["NCBIGene:56123", "ENSEMBL:ENSG00000187372", "HGNC:8684", "OMIM:606339", "UMLS:C1418333", "UniProtKB:Q9Y5F0", "PR:Q9Y5F0", "ENSEMBL:ENSP00000345491", "ENSEMBL:ENSP00000345491.4", "ENSEMBL:ENSP00000517203", "ENSEMBL:ENSP00000517203.1"], "information_content": 100.0}
{"id": "NCBIGene:10019", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SH2B3", "equivalent_identifiers": ["NCBIGene:10019", "ENSEMBL:ENSG00000111252", "HGNC:29605", "OMIM:605093", "UMLS:C1822705", "UniProtKB:B7Z7K6", "UniProtKB:F5GYM4", "ENSEMBL:ENSP00000440597", "ENSEMBL:ENSP00000440597.1", "UniProtKB:Q59H48", "UniProtKB:Q96BA5", "UniProtKB:Q9UQQ2", "PR:Q9UQQ2", "ENSEMBL:ENSP00000345492", "ENSEMBL:ENSP00000345492.2", "UMLS:C1453749", "MESH:C490778"], "information_content": 83.6}
{"id": "UniProtKB:O15162-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid scramblase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15162-1", "PR:O15162-1", "ENSEMBL:ENSP00000345494", "ENSEMBL:ENSP00000345494.4"], "information_content": 100.0}
{"id": "UniProtKB:Q08499-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3',5'-cyclic-AMP phosphodiesterase 4D isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q08499-1", "PR:Q08499-1", "ENSEMBL:ENSP00000345502", "ENSEMBL:ENSP00000345502.6"], "information_content": 100.0}
{"id": "NCBIGene:54978", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC35F6", "equivalent_identifiers": ["NCBIGene:54978", "ENSEMBL:ENSG00000213699", "HGNC:26055", "OMIM:619667", "UMLS:C1428548", "UniProtKB:Q8N357", "PR:Q8N357", "ENSEMBL:ENSP00000345528", "ENSEMBL:ENSP00000345528.5"], "information_content": 100.0}
{"id": "UniProtKB:A6NNW6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "enolase 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:A6NNW6-3", "PR:A6NNW6-3", "ENSEMBL:ENSP00000345555", "ENSEMBL:ENSP00000345555.6"], "information_content": 100.0}
{"id": "NCBIGene:1869", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "E2F1", "equivalent_identifiers": ["NCBIGene:1869", "ENSEMBL:ENSG00000101412", "HGNC:3113", "OMIM:189971", "UMLS:C0812258", "UniProtKB:Q01094", "PR:Q01094", "ENSEMBL:ENSP00000345571", "ENSEMBL:ENSP00000345571.5", "UMLS:C1506928", "MESH:C493753", "UniProtKB:Q9BSD8"], "information_content": 89.4}
{"id": "NCBIGene:54788", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJB12", "equivalent_identifiers": ["NCBIGene:54788", "ENSEMBL:ENSG00000148719", "HGNC:14891", "OMIM:608376", "UMLS:C1423030", "UniProtKB:J3KPS0", "ENSEMBL:ENSP00000345575", "ENSEMBL:ENSP00000345575.3", "ENSEMBL:ENSP00000378363", "ENSEMBL:ENSP00000378363.2", "UMLS:C1530456", "MESH:C494649", "UniProtKB:Q9NXW2", "PR:Q9NXW2"]}
{"id": "UniProtKB:Q6ZN16-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZN16-1", "PR:Q6ZN16-1", "ENSEMBL:ENSP00000345629", "ENSEMBL:ENSP00000345629.4"], "information_content": 100.0}
{"id": "NCBIGene:389874", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZCCHC13", "equivalent_identifiers": ["NCBIGene:389874", "ENSEMBL:ENSG00000187969", "HGNC:31749", "OMIM:301125", "UMLS:C1538161", "UniProtKB:Q8WW36", "PR:Q8WW36", "ENSEMBL:ENSP00000345633", "ENSEMBL:ENSP00000345633.2", "UMLS:C5391845", "MESH:C000707875"], "information_content": 100.0}
{"id": "UniProtKB:Q9P0L0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vesicle-associated membrane protein-associated protein A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0L0-2", "PR:Q9P0L0-2", "ENSEMBL:ENSP00000345656", "ENSEMBL:ENSP00000345656.4"], "information_content": 100.0}
{"id": "UniProtKB:P43166-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carbonic anhydrase 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P43166-1", "PR:P43166-1", "ENSEMBL:ENSP00000345659", "ENSEMBL:ENSP00000345659.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86SU0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "immunoglobulin-like domain-containing receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86SU0-1", "PR:Q86SU0-1", "ENSEMBL:ENSP00000345667", "ENSEMBL:ENSP00000345667.5"], "information_content": 100.0}
{"id": "NCBIGene:1508", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTSB", "equivalent_identifiers": ["NCBIGene:1508", "ENSEMBL:ENSG00000164733", "HGNC:2527", "OMIM:116810", "UMLS:C1332804", "UniProtKB:A0A024R374", "UniProtKB:P07858", "PR:P07858", "ENSEMBL:ENSP00000342070", "ENSEMBL:ENSP00000342070.3", "ENSEMBL:ENSP00000345672", "ENSEMBL:ENSP00000345672.5", "ENSEMBL:ENSP00000431143", "ENSEMBL:ENSP00000431143.2", "ENSEMBL:ENSP00000431518", "ENSEMBL:ENSP00000431518.2", "ENSEMBL:ENSP00000432244", "ENSEMBL:ENSP00000432244.1", "ENSEMBL:ENSP00000432408", "ENSEMBL:ENSP00000432408.2", "ENSEMBL:ENSP00000433215", "ENSEMBL:ENSP00000433215.1", "ENSEMBL:ENSP00000433379", "ENSEMBL:ENSP00000433379.3", "ENSEMBL:ENSP00000433929", "ENSEMBL:ENSP00000433929.2", "ENSEMBL:ENSP00000434217", "ENSEMBL:ENSP00000434217.1", "ENSEMBL:ENSP00000434725", "ENSEMBL:ENSP00000434725.2", "ENSEMBL:ENSP00000435074", "ENSEMBL:ENSP00000435074.2", "ENSEMBL:ENSP00000435105", "ENSEMBL:ENSP00000435105.1", "ENSEMBL:ENSP00000435260", "ENSEMBL:ENSP00000435260.2", "ENSEMBL:ENSP00000435886", "ENSEMBL:ENSP00000435886.2", "ENSEMBL:ENSP00000493857", "ENSEMBL:ENSP00000493857.2", "ENSEMBL:ENSP00000494729", "ENSEMBL:ENSP00000494729.2", "ENSEMBL:ENSP00000502963", "ENSEMBL:ENSP00000502963.1", "ENSEMBL:ENSP00000503006", "ENSEMBL:ENSP00000503006.1", "ENSEMBL:ENSP00000503052", "ENSEMBL:ENSP00000503052.1", "ENSEMBL:ENSP00000503078", "ENSEMBL:ENSP00000503078.1", "ENSEMBL:ENSP00000503174", "ENSEMBL:ENSP00000503174.1", "ENSEMBL:ENSP00000503280", "ENSEMBL:ENSP00000503280.1", "ENSEMBL:ENSP00000503300", "ENSEMBL:ENSP00000503300.1", "ENSEMBL:ENSP00000503435", "ENSEMBL:ENSP00000503435.1", "ENSEMBL:ENSP00000503487", "ENSEMBL:ENSP00000503487.1", "ENSEMBL:ENSP00000503513", "ENSEMBL:ENSP00000503513.1", "ENSEMBL:ENSP00000503578", "ENSEMBL:ENSP00000503578.1", "ENSEMBL:ENSP00000503608", "ENSEMBL:ENSP00000503608.1", "ENSEMBL:ENSP00000503652", "ENSEMBL:ENSP00000503652.1", "ENSEMBL:ENSP00000503674", "ENSEMBL:ENSP00000503674.1", "ENSEMBL:ENSP00000503858", "ENSEMBL:ENSP00000503858.1", "ENSEMBL:ENSP00000503909", "ENSEMBL:ENSP00000503909.1", "ENSEMBL:ENSP00000504161", "ENSEMBL:ENSP00000504161.1", "ENSEMBL:ENSP00000504226", "ENSEMBL:ENSP00000504226.1", "ENSEMBL:ENSP00000504336", "ENSEMBL:ENSP00000504336.1", "ENSEMBL:ENSP00000504480", "ENSEMBL:ENSP00000504480.1", "ENSEMBL:ENSP00000504638", "ENSEMBL:ENSP00000504638.1", "ENSEMBL:ENSP00000504659", "ENSEMBL:ENSP00000504659.1", "ENSEMBL:ENSP00000504797", "ENSEMBL:ENSP00000504797.1", "ENSEMBL:ENSP00000518417", "ENSEMBL:ENSP00000518417.1", "ENSEMBL:ENSP00000518418", "ENSEMBL:ENSP00000518418.1", "ENSEMBL:ENSP00000518419", "ENSEMBL:ENSP00000518419.1", "ENSEMBL:ENSP00000518420", "ENSEMBL:ENSP00000518420.1", "ENSEMBL:ENSP00000518421", "ENSEMBL:ENSP00000518421.1", "ENSEMBL:ENSP00000518426", "ENSEMBL:ENSP00000518426.1", "ENSEMBL:ENSP00000518427", "ENSEMBL:ENSP00000518427.1", "ENSEMBL:ENSP00000518428", "ENSEMBL:ENSP00000518428.1", "ENSEMBL:ENSP00000518429", "ENSEMBL:ENSP00000518429.1", "ENSEMBL:ENSP00000518430", "ENSEMBL:ENSP00000518430.1", "ENSEMBL:ENSP00000518431", "ENSEMBL:ENSP00000518431.1", "ENSEMBL:ENSP00000518432", "ENSEMBL:ENSP00000518432.1", "ENSEMBL:ENSP00000518433", "ENSEMBL:ENSP00000518433.1", "ENSEMBL:ENSP00000518434", "ENSEMBL:ENSP00000518434.1", "ENSEMBL:ENSP00000518435", "ENSEMBL:ENSP00000518435.1", "ENSEMBL:ENSP00000518436", "ENSEMBL:ENSP00000518436.1", "ENSEMBL:ENSP00000518437", "ENSEMBL:ENSP00000518437.1", "ENSEMBL:ENSP00000518438", "ENSEMBL:ENSP00000518438.1", "ENSEMBL:ENSP00000518440", "ENSEMBL:ENSP00000518440.1", "ENSEMBL:ENSP00000518441", "ENSEMBL:ENSP00000518441.1", "ENSEMBL:ENSP00000518442", "ENSEMBL:ENSP00000518442.1", "ENSEMBL:ENSP00000518443", "ENSEMBL:ENSP00000518443.1", "ENSEMBL:ENSP00000518444", "ENSEMBL:ENSP00000518444.1", "ENSEMBL:ENSP00000518445", "ENSEMBL:ENSP00000518445.1", "ENSEMBL:ENSP00000518448", "ENSEMBL:ENSP00000518448.1", "ENSEMBL:ENSP00000518449", "ENSEMBL:ENSP00000518449.1", "ENSEMBL:ENSP00000518450", "ENSEMBL:ENSP00000518450.1", "ENSEMBL:ENSP00000518452", "ENSEMBL:ENSP00000518452.1", "ENSEMBL:ENSP00000518455", "ENSEMBL:ENSP00000518455.1", "ENSEMBL:ENSP00000518456", "ENSEMBL:ENSP00000518456.1", "ENSEMBL:ENSP00000518457", "ENSEMBL:ENSP00000518457.1", "ENSEMBL:ENSP00000518460", "ENSEMBL:ENSP00000518460.1", "ENSEMBL:ENSP00000518464", "ENSEMBL:ENSP00000518464.1", "ENSEMBL:ENSP00000518466", "ENSEMBL:ENSP00000518466.1", "ENSEMBL:ENSP00000518468", "ENSEMBL:ENSP00000518468.1", "ENSEMBL:ENSP00000518469", "ENSEMBL:ENSP00000518469.1", "UMLS:C2606206", "MESH:C533912"], "information_content": 90.9}
{"id": "UniProtKB:P23769-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endothelial transcription factor GATA-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P23769-1", "PR:P23769-1", "ENSEMBL:ENSP00000345681", "ENSEMBL:ENSP00000345681.2", "ENSEMBL:ENSP00000417074", "ENSEMBL:ENSP00000417074.1"], "information_content": 100.0}
{"id": "UniProtKB:P23511-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear transcription factor Y subunit alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P23511-1", "PR:P23511-1", "ENSEMBL:ENSP00000345702", "ENSEMBL:ENSP00000345702.6"], "information_content": 95.4}
{"id": "UniProtKB:Q14654-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-sensitive inward rectifier potassium channel 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14654-1", "PR:Q14654-1", "ENSEMBL:ENSP00000345708", "ENSEMBL:ENSP00000345708.4"], "information_content": 100.0}
{"id": "NCBIGene:222698", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKAPL", "equivalent_identifiers": ["NCBIGene:222698", "ENSEMBL:ENSG00000189134", "HGNC:21584", "UMLS:C1427630", "UniProtKB:Q5M9Q1", "PR:Q5M9Q1", "ENSEMBL:ENSP00000345716", "ENSEMBL:ENSP00000345716.3", "UMLS:C3252541", "MESH:C569368"], "information_content": 100.0}
{"id": "UniProtKB:O14656-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "torsin-1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14656-1", "PR:O14656-1", "ENSEMBL:ENSP00000345719", "ENSEMBL:ENSP00000345719.4"], "information_content": 100.0}
{"id": "UniProtKB:Q04656-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "copper-transporting ATPase 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q04656-1", "PR:Q04656-1", "ENSEMBL:ENSP00000345728", "ENSEMBL:ENSP00000345728.6", "ENSEMBL:ENSP00000509233", "ENSEMBL:ENSP00000509233.1", "ENSEMBL:ENSP00000509566", "ENSEMBL:ENSP00000509566.1", "ENSEMBL:ENSP00000510136", "ENSEMBL:ENSP00000510136.1"], "information_content": 100.0}
{"id": "UniProtKB:Q12959-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disks large homolog 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q12959-2", "PR:Q12959-2", "ENSEMBL:ENSP00000345731", "ENSEMBL:ENSP00000345731.2"], "information_content": 100.0}
{"id": "UniProtKB:P51168-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epithelial sodium channel subunit beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51168-1", "PR:P51168-1", "ENSEMBL:ENSP00000345751", "ENSEMBL:ENSP00000345751.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13614-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13614-1", "PR:Q13614-1", "ENSEMBL:ENSP00000345752", "ENSEMBL:ENSP00000345752.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2G4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2G4-2", "PR:Q9Y2G4-2", "ENSEMBL:ENSP00000345767", "ENSEMBL:ENSP00000345767.4", "ENSEMBL:ENSP00000430985", "ENSEMBL:ENSP00000430985.1"], "information_content": 100.0}
{"id": "NCBIGene:7005", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEAD3", "equivalent_identifiers": ["NCBIGene:7005", "ENSEMBL:ENSG00000007866", "HGNC:11716", "OMIM:603170", "UMLS:C1420681", "UniProtKB:A0A7P0SNI2", "ENSEMBL:ENSP00000492431", "ENSEMBL:ENSP00000492431.3", "UniProtKB:Q99594", "PR:Q99594", "ENSEMBL:ENSP00000345772", "ENSEMBL:ENSP00000345772.8", "UMLS:C1430796", "MESH:C106169"], "information_content": 95.4}
{"id": "NCBIGene:222389", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BEND7", "equivalent_identifiers": ["NCBIGene:222389", "ENSEMBL:ENSG00000165626", "HGNC:23514", "UMLS:C1428117", "UniProtKB:A0AAK2PQJ4", "ENSEMBL:ENSP00000345773", "ENSEMBL:ENSP00000345773.3", "UniProtKB:Q8N7W2", "PR:Q8N7W2", "UMLS:C4742073", "MESH:C000628965"]}
{"id": "UniProtKB:P51648-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aldehyde dehydrogenase family 3 member A2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51648-2", "PR:P51648-2", "ENSEMBL:ENSP00000345774", "ENSEMBL:ENSP00000345774.4"], "information_content": 100.0}
{"id": "NCBIGene:8326", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FZD9", "equivalent_identifiers": ["NCBIGene:8326", "ENSEMBL:ENSG00000188763", "HGNC:4047", "OMIM:601766", "UMLS:C1333589", "UniProtKB:O00144", "PR:O00144", "ENSEMBL:ENSP00000345785", "ENSEMBL:ENSP00000345785.3", "UMLS:C1333642", "MESH:C549560"], "information_content": 95.4}
{"id": "NCBIGene:23264", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZC3H7B", "equivalent_identifiers": ["NCBIGene:23264", "ENSEMBL:ENSG00000100403", "HGNC:30869", "OMIM:618206", "UMLS:C1823919", "UniProtKB:Q9UGR2", "PR:Q9UGR2", "ENSEMBL:ENSP00000345793", "ENSEMBL:ENSP00000345793.4", "UMLS:C1450933", "MESH:C484647"], "information_content": 92.8}
{"id": "MONDO:0002930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kidney sarcoma", "equivalent_identifiers": ["MONDO:0002930", "DOID:4242", "UMLS:C0346251", "NCIT:C4525", "SNOMEDCT:254918001", "medgen:87548", "HP:0008663"], "information_content": 80.2}
{"id": "MONDO:0002630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "small cell osteogenic sarcoma", "equivalent_identifiers": ["MONDO:0002630", "DOID:3377", "UMLS:C0279622", "NCIT:C4023", "SNOMEDCT:12302002", "SNOMEDCT:1290893002", "medgen:83532"], "information_content": 100.0}
{"id": "MONDO:0021657", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian sex cord-stromal tumor", "equivalent_identifiers": ["MONDO:0021657", "DOID:0080369", "UMLS:C0600113", "NCIT:C4862", "SNOMEDCT:237058000", "medgen:154644", "HP:0031918"], "information_content": 72.4}
{"id": "UniProtKB:Q5JUW0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KRAB domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JUW0-1", "PR:Q5JUW0-1", "ENSEMBL:ENSP00000345797", "ENSEMBL:ENSP00000345797.4"], "information_content": 100.0}
{"id": "UniProtKB:O95153-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peripheral-type benzodiazepine receptor-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95153-1", "PR:O95153-1", "ENSEMBL:ENSP00000345824", "ENSEMBL:ENSP00000345824.4"], "information_content": 100.0}
{"id": "UniProtKB:Q969W9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein TMEPAI isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969W9-1", "PR:Q969W9-1", "ENSEMBL:ENSP00000345826", "ENSEMBL:ENSP00000345826.3"], "information_content": 100.0}
{"id": "NCBIGene:84661", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPY30", "equivalent_identifiers": ["NCBIGene:84661", "ENSEMBL:ENSG00000162961", "HGNC:24590", "OMIM:612032", "UMLS:C2239360", "UniProtKB:Q9C005", "PR:Q9C005", "ENSEMBL:ENSP00000295066", "ENSEMBL:ENSP00000295066.3", "ENSEMBL:ENSP00000345837", "ENSEMBL:ENSP00000345837.5"], "information_content": 89.4}
{"id": "UniProtKB:Q92688-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acidic leucine-rich nuclear phosphoprotein 32 family member B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92688-1", "PR:Q92688-1", "ENSEMBL:ENSP00000345848", "ENSEMBL:ENSP00000345848.4"], "information_content": 100.0}
{"id": "UniProtKB:P38567-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hyaluronidase PH-20 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P38567-2", "PR:P38567-2", "ENSEMBL:ENSP00000345849", "ENSEMBL:ENSP00000345849.5", "ENSEMBL:ENSP00000386028", "ENSEMBL:ENSP00000386028.3"], "information_content": 100.0}
{"id": "NCBIGene:1852", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUSP9", "equivalent_identifiers": ["NCBIGene:1852", "ENSEMBL:ENSG00000130829", "HGNC:3076", "OMIM:300134", "UMLS:C1414191", "UniProtKB:B2RAL9", "UMLS:C1430693", "MESH:C104821", "UniProtKB:Q6P9C2", "UniProtKB:Q99956", "PR:Q99956", "ENSEMBL:ENSP00000345853", "ENSEMBL:ENSP00000345853.3", "ENSEMBL:ENSP00000359186", "ENSEMBL:ENSP00000359186.4"], "information_content": 100.0}
{"id": "NCBIGene:127534", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJB4", "equivalent_identifiers": ["NCBIGene:127534", "ENSEMBL:ENSG00000189433", "HGNC:4286", "OMIM:605425", "UMLS:C1415079", "UniProtKB:Q9NTQ9", "PR:Q9NTQ9", "ENSEMBL:ENSP00000345868", "ENSEMBL:ENSP00000345868.1", "UMLS:C5889840"], "information_content": 95.4}
{"id": "NCBIGene:1811", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC26A3", "equivalent_identifiers": ["NCBIGene:1811", "ENSEMBL:ENSG00000091138", "HGNC:3018", "OMIM:126650", "UMLS:C1335836", "UniProtKB:P40879", "PR:P40879", "ENSEMBL:ENSP00000345873", "ENSEMBL:ENSP00000345873.5", "UMLS:C0215844", "UMLS:C1504717", "MESH:C081011"], "information_content": 100.0}
{"id": "MONDO:0001233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Tenonitis", "equivalent_identifiers": ["MONDO:0001233", "DOID:11233", "UMLS:C0155259", "SNOMEDCT:8976003", "medgen:509879", "ICD9:376.04"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear pore complex protein Nup50 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKX7-1", "PR:Q9UKX7-1", "ENSEMBL:ENSP00000345895", "ENSEMBL:ENSP00000345895.3"], "information_content": 100.0}
{"id": "NCBIGene:55646", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LYAR", "equivalent_identifiers": ["NCBIGene:55646", "ENSEMBL:ENSG00000145220", "HGNC:26021", "OMIM:617684", "UMLS:C2239661", "UniProtKB:Q9NX58", "PR:Q9NX58", "ENSEMBL:ENSP00000345917", "ENSEMBL:ENSP00000345917.4", "ENSEMBL:ENSP00000397367", "ENSEMBL:ENSP00000397367.1", "UMLS:C3884448", "MESH:C000592018"], "information_content": 100.0}
{"id": "MONDO:0019050", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inherited hemoglobinopathy", "equivalent_identifiers": ["MONDO:0019050", "DOID:2860", "orphanet:68364", "UMLS:C1960031", "MESH:D006453", "NCIT:C3092", "SNOMEDCT:427306008"], "information_content": 73.1}
{"id": "NCBIGene:6227", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS21", "equivalent_identifiers": ["NCBIGene:6227", "ENSEMBL:ENSG00000171858", "HGNC:10409", "OMIM:180477", "UMLS:C1419723", "UniProtKB:P63220", "PR:P63220", "ENSEMBL:ENSP00000345957", "ENSEMBL:ENSP00000345957.3", "UMLS:C1455329", "UniProtKB:Q6FGH5"], "information_content": 90.9}
{"id": "UniProtKB:Q5VWT5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FYN-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VWT5-1", "PR:Q5VWT5-1", "ENSEMBL:ENSP00000345972", "ENSEMBL:ENSP00000345972.6"], "information_content": 100.0}
{"id": "MONDO:0001179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pinguecula", "equivalent_identifiers": ["MONDO:0001179", "DOID:11029", "EFO:1001824", "UMLS:C0152255", "MESH:D059407", "MEDDRA:10035060", "MEDDRA:10035061", "MEDDRA:10035062", "NCIT:C129468", "SNOMEDCT:87614000", "medgen:56273", "ICD10:H11.15", "ICD9:372.51", "HP:0031830"], "information_content": 100.0}
{"id": "UniProtKB:O43734-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin ligase TRAF3IP2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43734-1", "PR:O43734-1", "ENSEMBL:ENSP00000345984", "ENSEMBL:ENSP00000345984.6"], "information_content": 100.0}
{"id": "NCBIGene:57497", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRFN2", "equivalent_identifiers": ["NCBIGene:57497", "ENSEMBL:ENSG00000156564", "HGNC:21226", "OMIM:612808", "UMLS:C1427431", "UniProtKB:Q9ULH4", "PR:Q9ULH4", "ENSEMBL:ENSP00000345985", "ENSEMBL:ENSP00000345985.6", "UMLS:C4508396", "MESH:C000621463"], "information_content": 95.4}
{"id": "UniProtKB:Q09013-16", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myotonin-protein kinase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q09013-16", "PR:Q09013-16", "ENSEMBL:ENSP00000345997", "ENSEMBL:ENSP00000345997.4"], "information_content": 100.0}
{"id": "NCBIGene:6122", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL3", "equivalent_identifiers": ["NCBIGene:6122", "ENSEMBL:ENSG00000100316", "HGNC:10332", "OMIM:604163", "UMLS:C1419655", "UniProtKB:B3KS36", "UMLS:C5564552", "MESH:C000716547", "UniProtKB:P39023", "PR:P39023", "ENSEMBL:ENSP00000346001", "ENSEMBL:ENSP00000346001.3", "UniProtKB:Q96QL0"], "information_content": 86.3}
{"id": "NCBIGene:6166", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL36AL", "equivalent_identifiers": ["NCBIGene:6166", "ENSEMBL:ENSG00000165502", "HGNC:10346", "OMIM:180469", "UMLS:C1419669", "UniProtKB:Q969Q0", "PR:Q969Q0", "ENSEMBL:ENSP00000346012", "ENSEMBL:ENSP00000346012.5", "UMLS:C1174508", "MESH:C471570"], "information_content": 92.8}
{"id": "NCBIGene:6157", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL27A", "equivalent_identifiers": ["NCBIGene:6157", "ENSEMBL:ENSG00000166441", "HGNC:10329", "OMIM:603637", "UMLS:C1419653", "UniProtKB:P46776", "PR:P46776", "ENSEMBL:ENSP00000346015", "ENSEMBL:ENSP00000346015.5", "UMLS:C1435621", "MESH:C486160"], "information_content": 90.9}
{"id": "NCBIGene:6144", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL21", "equivalent_identifiers": ["NCBIGene:6144", "ENSEMBL:ENSG00000122026", "HGNC:10313", "OMIM:603636", "UMLS:C1419637", "UniProtKB:P46778", "PR:P46778", "ENSEMBL:ENSP00000346027", "ENSEMBL:ENSP00000346027.4", "ENSEMBL:ENSP00000351021", "ENSEMBL:ENSP00000351021.2", "ENSEMBL:ENSP00000370569", "ENSEMBL:ENSP00000370569.1", "ENSEMBL:ENSP00000370574", "ENSEMBL:ENSP00000370574.1", "UMLS:C1455005", "UniProtKB:Q6IAX2"], "information_content": 89.4}
{"id": "UniProtKB:P07355-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "annexin A2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P07355-2", "PR:P07355-2", "ENSEMBL:ENSP00000346032", "ENSEMBL:ENSP00000346032.3"], "information_content": 100.0}
{"id": "UniProtKB:P05386-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein P1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P05386-1", "PR:P05386-1", "ENSEMBL:ENSP00000346037", "ENSEMBL:ENSP00000346037.5"], "information_content": 100.0}
{"id": "NCBIGene:6189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS3A", "equivalent_identifiers": ["NCBIGene:6189", "ENSEMBL:ENSG00000145425", "HGNC:10421", "OMIM:180478", "UMLS:C1419733", "UniProtKB:B7Z3M5", "UMLS:C0073332", "MESH:C031016", "UniProtKB:P61247", "PR:P61247", "ENSEMBL:ENSP00000346050", "ENSEMBL:ENSP00000346050.3", "ENSEMBL:ENSP00000517921", "ENSEMBL:ENSP00000517921.1"], "information_content": 86.3}
{"id": "UniProtKB:O60522-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tudor domain-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60522-1", "PR:O60522-1", "ENSEMBL:ENSP00000346065", "ENSEMBL:ENSP00000346065.5"], "information_content": 100.0}
{"id": "NCBIGene:200916", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL22L1", "equivalent_identifiers": ["NCBIGene:200916", "ENSEMBL:ENSG00000163584", "HGNC:27610", "UMLS:C1826879", "UniProtKB:C9JYQ9", "ENSEMBL:ENSP00000419041", "ENSEMBL:ENSP00000419041.1", "UMLS:C4276732", "MESH:C000608558", "UniProtKB:Q6P5R6", "PR:Q6P5R6", "ENSEMBL:ENSP00000346080", "ENSEMBL:ENSP00000346080.7"], "information_content": 92.8}
{"id": "NCBIGene:6146", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL22", "equivalent_identifiers": ["NCBIGene:6146", "ENSEMBL:ENSG00000116251", "HGNC:10315", "OMIM:180474", "UMLS:C1419639", "UniProtKB:P35268", "PR:P35268", "ENSEMBL:ENSP00000346088", "ENSEMBL:ENSP00000346088.3", "UMLS:C1504708", "MESH:C067169"], "information_content": 90.9}
{"id": "UniProtKB:P36969-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid hydroperoxide glutathione peroxidase GPX4 isoform Mitochondrial (human)", "equivalent_identifiers": ["UniProtKB:P36969-1", "PR:P36969-1", "ENSEMBL:ENSP00000346103", "ENSEMBL:ENSP00000346103.7"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHW9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 12 member 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHW9-1", "PR:Q9UHW9-1", "ENSEMBL:ENSP00000346112", "ENSEMBL:ENSP00000346112.3", "ENSEMBL:ENSP00000453473", "ENSEMBL:ENSP00000453473.1", "ENSEMBL:ENSP00000454168", "ENSEMBL:ENSP00000454168.1"], "information_content": 100.0}
{"id": "MONDO:0008768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ceroid lipofuscinosis, neuronal, 6B (Kufs type)", "equivalent_identifiers": ["MONDO:0008768", "DOID:0110730", "OMIM:204300", "UMLS:C5561927", "medgen:1794137"], "information_content": 95.4}
{"id": "UniProtKB:Q9NR30-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolar RNA helicase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR30-1", "PR:Q9NR30-1", "ENSEMBL:ENSP00000346120", "ENSEMBL:ENSP00000346120.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UF11-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family B member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UF11-1", "PR:Q9UF11-1", "ENSEMBL:ENSP00000346127", "ENSEMBL:ENSP00000346127.5"], "information_content": 100.0}
{"id": "NCBIGene:258010", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SVIP", "equivalent_identifiers": ["NCBIGene:258010", "ENSEMBL:ENSG00000198168", "HGNC:25238", "OMIM:620965", "UMLS:C2680463", "UniProtKB:Q8NHG7", "PR:Q8NHG7", "ENSEMBL:ENSP00000346130", "ENSEMBL:ENSP00000346130.4", "UMLS:C3252572", "MESH:C569017"], "information_content": 95.4}
{"id": "UniProtKB:Q96BZ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BZ9-1", "PR:Q96BZ9-1", "ENSEMBL:ENSP00000346139", "ENSEMBL:ENSP00000346139.4", "ENSEMBL:ENSP00000432280", "ENSEMBL:ENSP00000432280.1", "ENSEMBL:ENSP00000504904", "ENSEMBL:ENSP00000504904.1", "ENSEMBL:ENSP00000505500", "ENSEMBL:ENSP00000505500.1", "ENSEMBL:ENSP00000505557", "ENSEMBL:ENSP00000505557.1", "ENSEMBL:ENSP00000506012", "ENSEMBL:ENSP00000506012.1", "ENSEMBL:ENSP00000506122", "ENSEMBL:ENSP00000506122.1", "ENSEMBL:ENSP00000506155", "ENSEMBL:ENSP00000506155.1", "ENSEMBL:ENSP00000506231", "ENSEMBL:ENSP00000506231.1", "ENSEMBL:ENSP00000506278", "ENSEMBL:ENSP00000506278.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13131-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13131-2", "PR:Q13131-2", "ENSEMBL:ENSP00000346148", "ENSEMBL:ENSP00000346148.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86UL8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UL8-1", "PR:Q86UL8-1", "ENSEMBL:ENSP00000346151", "ENSEMBL:ENSP00000346151.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWZ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uridine-cytidine kinase-like 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWZ5-1", "PR:Q9NWZ5-1", "ENSEMBL:ENSP00000346155", "ENSEMBL:ENSP00000346155.6"], "information_content": 100.0}
{"id": "MONDO:0011486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy 1B", "equivalent_identifiers": ["MONDO:0011486", "DOID:0110634", "OMIM:604801", "orphanet:98893", "UMLS:C1858118", "MESH:C565748", "SNOMEDCT:764944006", "medgen:346746"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYZ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regenerating islet-derived protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYZ8-1", "PR:Q9BYZ8-1", "ENSEMBL:ENSP00000256585", "ENSEMBL:ENSP00000256585.5", "ENSEMBL:ENSP00000346158", "ENSEMBL:ENSP00000346158.1"], "information_content": 100.0}
{"id": "UniProtKB:P38117-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "electron transfer flavoprotein subunit beta isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P38117-2", "PR:P38117-2", "ENSEMBL:ENSP00000346173", "ENSEMBL:ENSP00000346173.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96T68-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase SETDB2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96T68-1", "PR:Q96T68-1", "ENSEMBL:ENSP00000346175", "ENSEMBL:ENSP00000346175.5"], "information_content": 100.0}
{"id": "UniProtKB:P56181-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P56181-2", "PR:P56181-2", "ENSEMBL:ENSP00000346196", "ENSEMBL:ENSP00000346196.2"], "information_content": 100.0}
{"id": "UniProtKB:Q03518-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "antigen peptide transporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q03518-1", "PR:Q03518-1", "ENSEMBL:ENSP00000346206", "ENSEMBL:ENSP00000346206.5"], "information_content": 100.0}
{"id": "NCBIGene:26232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXO2", "equivalent_identifiers": ["NCBIGene:26232", "ENSEMBL:ENSG00000116661", "HGNC:13581", "OMIM:607112", "UMLS:C1422076", "UniProtKB:Q9UK22", "PR:Q9UK22", "ENSEMBL:ENSP00000346240", "ENSEMBL:ENSP00000346240.4", "UMLS:C1435287", "MESH:C485508"], "information_content": 100.0}
{"id": "UniProtKB:Q9NP55-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BPI fold-containing family A member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP55-1", "PR:Q9NP55-1", "ENSEMBL:ENSP00000346251", "ENSEMBL:ENSP00000346251.4", "ENSEMBL:ENSP00000364562", "ENSEMBL:ENSP00000364562.4", "ENSEMBL:ENSP00000364571", "ENSEMBL:ENSP00000364571.2"], "information_content": 100.0}
{"id": "MONDO:0000261", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenoiditis", "equivalent_identifiers": ["MONDO:0000261", "DOID:0050145", "UMLS:C0001427", "UMLS:C0396023", "MEDDRA:10051223", "SNOMEDCT:232420002", "SNOMEDCT:70020005", "medgen:507401", "ICD10:J35.02", "ICD9:474.01", "HP:0031458"], "information_content": 100.0}
{"id": "NCBIGene:160760", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPTC7", "equivalent_identifiers": ["NCBIGene:160760", "ENSEMBL:ENSG00000196850", "HGNC:30695", "OMIM:609668", "UMLS:C1826668", "UniProtKB:Q8NI37", "PR:Q8NI37", "ENSEMBL:ENSP00000346255", "ENSEMBL:ENSP00000346255.3", "UMLS:C5197237", "MESH:C000631495"], "information_content": 100.0}
{"id": "UniProtKB:O00445-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptotagmin-5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00445-1", "PR:O00445-1", "ENSEMBL:ENSP00000346265", "ENSEMBL:ENSP00000346265.2", "ENSEMBL:ENSP00000442896", "ENSEMBL:ENSP00000442896.1"], "information_content": 100.0}
{"id": "NCBIGene:646962", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HRCT1", "equivalent_identifiers": ["NCBIGene:646962", "ENSEMBL:ENSG00000196196", "HGNC:33872", "UMLS:C2681593", "UniProtKB:Q6UXD1", "PR:Q6UXD1", "ENSEMBL:ENSP00000346283", "ENSEMBL:ENSP00000346283.2", "UMLS:C5828860", "MESH:C000727450"], "information_content": 100.0}
{"id": "UniProtKB:Q9NP91-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium- and chloride-dependent transporter XTRP3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP91-1", "PR:Q9NP91-1", "ENSEMBL:ENSP00000346298", "ENSEMBL:ENSP00000346298.4"], "information_content": 100.0}
{"id": "NCBIGene:1399", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRKL", "equivalent_identifiers": ["NCBIGene:1399", "ENSEMBL:ENSG00000099942", "HGNC:2363", "OMIM:602007", "UMLS:C0812253", "UniProtKB:P46109", "PR:P46109", "ENSEMBL:ENSP00000346300", "ENSEMBL:ENSP00000346300.3", "ENSEMBL:ENSP00000396646", "ENSEMBL:ENSP00000396646.1", "UMLS:C0219488", "MESH:C082869"], "information_content": 80.9}
{"id": "NCBIGene:55051", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NRDE2", "equivalent_identifiers": ["NCBIGene:55051", "ENSEMBL:ENSG00000119720", "HGNC:20186", "OMIM:618631", "UMLS:C1426759", "UniProtKB:Q9H7Z3", "PR:Q9H7Z3", "ENSEMBL:ENSP00000346335", "ENSEMBL:ENSP00000346335.3", "UMLS:C5197370", "MESH:C000632158"], "information_content": 95.4}
{"id": "UniProtKB:Q99627-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "COP9 signalosome complex subunit 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99627-1", "PR:Q99627-1", "ENSEMBL:ENSP00000346340", "ENSEMBL:ENSP00000346340.2"], "information_content": 100.0}
{"id": "NCBIGene:5988", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RFPL1", "equivalent_identifiers": ["NCBIGene:5988", "ENSEMBL:ENSG00000128250", "HGNC:9977", "OMIM:605968", "UMLS:C1419354", "UniProtKB:O75677", "PR:O75677", "ENSEMBL:ENSP00000346342", "ENSEMBL:ENSP00000346342.2", "UMLS:C1309281", "MESH:C400217"], "information_content": 100.0}
{"id": "UniProtKB:Q9BVV6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein TALPID3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVV6-3", "PR:Q9BVV6-3", "ENSEMBL:ENSP00000346359", "ENSEMBL:ENSP00000346359.6"], "information_content": 100.0}
{"id": "UniProtKB:O95704-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amyloid-beta A4 precursor protein-binding family B member 3 isoform IV (human)", "equivalent_identifiers": ["UniProtKB:O95704-4", "PR:O95704-4", "ENSEMBL:ENSP00000346378", "ENSEMBL:ENSP00000346378.5"], "information_content": 100.0}
{"id": "NCBIGene:149297", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM78B", "equivalent_identifiers": ["NCBIGene:149297", "ENSEMBL:ENSG00000188859", "HGNC:13495", "UMLS:C1825151", "UniProtKB:F1T0K0", "UniProtKB:Q5VT40", "PR:Q5VT40", "ENSEMBL:ENSP00000339681", "ENSEMBL:ENSP00000339681.3", "ENSEMBL:ENSP00000346404", "ENSEMBL:ENSP00000346404.3", "ENSEMBL:ENSP00000389945", "ENSEMBL:ENSP00000389945.1"], "information_content": 95.4}
{"id": "UniProtKB:A6PVS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat and IQ domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6PVS8-1", "PR:A6PVS8-1", "ENSEMBL:ENSP00000346414", "ENSEMBL:ENSP00000346414.4", "ENSEMBL:ENSP00000378524", "ENSEMBL:ENSP00000378524.1"], "information_content": 100.0}
{"id": "MONDO:0002009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "major depressive disorder", "equivalent_identifiers": ["MONDO:0002009", "DOID:1470", "OMIM:608516", "EFO:0003761", "UMLS:C0024517", "UMLS:C0041696", "UMLS:C0154409", "UMLS:C1269683", "MESH:D003865", "MEDDRA:10025453", "MEDDRA:10025454", "MEDDRA:10025463", "MEDDRA:10025471", "MEDDRA:10045543", "MEDDRA:10045544", "MEDDRA:10057840", "MEDDRA:10081270", "NCIT:C195908", "NCIT:C34796", "NCIT:C35094", "SNOMEDCT:268621008", "SNOMEDCT:36923009", "SNOMEDCT:370143000", "SNOMEDCT:66344007", "medgen:266123", "ICD10:F32", "ICD10:F33.9", "ICD9:296.2", "ICD9:296.3"], "information_content": 88.2}
{"id": "UniProtKB:O95352-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-like modifier-activating enzyme ATG7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95352-1", "PR:O95352-1", "ENSEMBL:ENSP00000346437", "ENSEMBL:ENSP00000346437.3", "ENSEMBL:ENSP00000509725", "ENSEMBL:ENSP00000509725.1", "ENSEMBL:ENSP00000510336", "ENSEMBL:ENSP00000510336.1"], "information_content": 100.0}
{"id": "UniProtKB:Q12912-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol 1,4,5-triphosphate receptor associated 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q12912-2", "PR:Q12912-2", "ENSEMBL:ENSP00000346442", "ENSEMBL:ENSP00000346442.3", "ENSEMBL:ENSP00000446496", "ENSEMBL:ENSP00000446496.1", "ENSEMBL:ENSP00000450246", "ENSEMBL:ENSP00000450246.1", "ENSEMBL:ENSP00000451048", "ENSEMBL:ENSP00000451048.2", "ENSEMBL:ENSP00000452116", "ENSEMBL:ENSP00000452116.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TEX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "importin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEX9-1", "PR:Q8TEX9-1", "ENSEMBL:ENSP00000346453", "ENSEMBL:ENSP00000346453.6", "ENSEMBL:ENSP00000494795", "ENSEMBL:ENSP00000494795.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15906-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 72 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15906-2", "PR:Q15906-2", "ENSEMBL:ENSP00000346464", "ENSEMBL:ENSP00000346464.4"], "information_content": 100.0}
{"id": "UniProtKB:A4D1P6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 91 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A4D1P6-1", "PR:A4D1P6-1", "ENSEMBL:ENSP00000346466", "ENSEMBL:ENSP00000346466.4"], "information_content": 100.0}
{"id": "NCBIGene:9719", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAMTSL2", "equivalent_identifiers": ["NCBIGene:9719", "ENSEMBL:ENSG00000197859", "HGNC:14631", "OMIM:612277", "UMLS:C1540185", "UniProtKB:Q86TH1", "PR:Q86TH1", "ENSEMBL:ENSP00000346478", "ENSEMBL:ENSP00000346478.4", "ENSEMBL:ENSP00000376780", "ENSEMBL:ENSP00000376780.1", "ENSEMBL:ENSP00000498961", "ENSEMBL:ENSP00000498961.2", "UMLS:C3849661", "MESH:C000590227"], "information_content": 88.2}
{"id": "MONDO:0012562", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "holoprosencephaly 7", "equivalent_identifiers": ["MONDO:0012562", "DOID:0110876", "OMIM:610828", "UMLS:C1835820", "MESH:C563660", "medgen:372134"], "information_content": 100.0}
{"id": "MONDO:0004895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "accommodative esotropia", "equivalent_identifiers": ["MONDO:0004895", "DOID:9839", "UMLS:C0155336", "MEDDRA:10000393", "SNOMEDCT:194112008", "SNOMEDCT:419494007", "medgen:102331", "icd11.foundation:1512812109", "ICD10:H50.43", "ICD9:378.35", "HP:0020046"], "information_content": 90.9}
{"id": "UniProtKB:Q96HY6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DDRGK domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HY6-1", "PR:Q96HY6-1", "ENSEMBL:ENSP00000346483", "ENSEMBL:ENSP00000346483.3"], "information_content": 100.0}
{"id": "UniProtKB:P20794-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase MAK isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P20794-2", "PR:P20794-2", "ENSEMBL:ENSP00000346484", "ENSEMBL:ENSP00000346484.3"], "information_content": 100.0}
{"id": "UniProtKB:P04085-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "platelet-derived growth factor subunit A isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P04085-1", "PR:P04085-1", "ENSEMBL:ENSP00000346508", "ENSEMBL:ENSP00000346508.5"], "information_content": 100.0}
{"id": "UniProtKB:P0C5Z0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H2AB2_HUMAN Histone H2A-Bbd type 2/3 (sprot)", "equivalent_identifiers": ["UniProtKB:P0C5Z0", "PR:P0C5Z0", "ENSEMBL:ENSP00000346509", "ENSEMBL:ENSP00000346509.5", "ENSEMBL:ENSP00000482564", "ENSEMBL:ENSP00000482564.1", "UMLS:C4722642"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQD0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium channel protein type 8 subunit alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQD0-1", "PR:Q9UQD0-1", "ENSEMBL:ENSP00000346534", "ENSEMBL:ENSP00000346534.4"], "information_content": 100.0}
{"id": "NCBIGene:337963", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP23-1", "equivalent_identifiers": ["NCBIGene:337963", "ENSEMBL:ENSG00000186980", "HGNC:18928", "UMLS:C1425896", "UniProtKB:A1A580", "PR:A1A580", "ENSEMBL:ENSP00000346536", "ENSEMBL:ENSP00000346536.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3U7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SPARC-related modular calcium-binding protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3U7-2", "PR:Q9H3U7-2", "ENSEMBL:ENSP00000346537", "ENSEMBL:ENSP00000346537.5"], "information_content": 100.0}
{"id": "MONDO:0012987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 6, autosomal recessive", "equivalent_identifiers": ["MONDO:0012987", "DOID:0081138", "OMIM:612692", "UMLS:C3150207", "medgen:461557"], "information_content": 100.0}
{"id": "UniProtKB:P08133-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "annexin A6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P08133-1", "PR:P08133-1", "ENSEMBL:ENSP00000346550", "ENSEMBL:ENSP00000346550.5"], "information_content": 100.0}
{"id": "UniProtKB:Q4L180-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "filamin A-interacting protein 1-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4L180-1", "PR:Q4L180-1", "ENSEMBL:ENSP00000346560", "ENSEMBL:ENSP00000346560.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6K8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenylate kinase isoenzyme 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6K8-1", "PR:Q9Y6K8-1", "ENSEMBL:ENSP00000346577", "ENSEMBL:ENSP00000346577.2"], "information_content": 100.0}
{"id": "MONDO:0005509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histiocytoma", "equivalent_identifiers": ["MONDO:0005509", "DOID:4231", "EFO:0005561", "UMLS:C1509147", "MESH:D051642", "MEDDRA:10020115", "NCIT:C35765", "SNOMEDCT:128741006", "SNOMEDCT:302843004", "medgen:267592", "icd11.foundation:1211753554", "HP:0012315"], "information_content": 83.1}
{"id": "NCBIGene:84878", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB45", "equivalent_identifiers": ["NCBIGene:84878", "ENSEMBL:ENSG00000119574", "HGNC:23715", "OMIM:621256", "UMLS:C1823911", "UniProtKB:Q96K62", "PR:Q96K62", "ENSEMBL:ENSP00000346603", "ENSEMBL:ENSP00000346603.2", "ENSEMBL:ENSP00000469089", "ENSEMBL:ENSP00000469089.1", "ENSEMBL:ENSP00000473072", "ENSEMBL:ENSP00000473072.1"], "information_content": 100.0}
{"id": "UniProtKB:A2RUC4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA wybutosine-synthesizing protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:A2RUC4-1", "PR:A2RUC4-1", "ENSEMBL:ENSP00000346627", "ENSEMBL:ENSP00000346627.4"], "information_content": 100.0}
{"id": "NCBIGene:9967", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THRAP3", "equivalent_identifiers": ["NCBIGene:9967", "ENSEMBL:ENSG00000054118", "HGNC:22964", "OMIM:603809", "UMLS:C1427817", "UniProtKB:Q9Y2W1", "PR:Q9Y2W1", "ENSEMBL:ENSP00000346634", "ENSEMBL:ENSP00000346634.5", "ENSEMBL:ENSP00000433825", "ENSEMBL:ENSP00000433825.1", "UMLS:C1259771", "UMLS:C3273656", "MESH:C475774"], "information_content": 89.4}
{"id": "UniProtKB:Q86YB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ERO1-like protein beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YB8-1", "PR:Q86YB8-1", "ENSEMBL:ENSP00000346635", "ENSEMBL:ENSP00000346635.5"], "information_content": 100.0}
{"id": "UniProtKB:Q2TB90-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hexokinase HKDC1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q2TB90-1", "PR:Q2TB90-1", "ENSEMBL:ENSP00000346643", "ENSEMBL:ENSP00000346643.5"], "information_content": 100.0}
{"id": "UniProtKB:Q04671-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "P protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q04671-1", "PR:Q04671-1", "ENSEMBL:ENSP00000346659", "ENSEMBL:ENSP00000346659.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase WNK3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYP7-1", "PR:Q9BYP7-1", "ENSEMBL:ENSP00000346667", "ENSEMBL:ENSP00000346667.2"], "information_content": 100.0}
{"id": "UniProtKB:P06241-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase Fyn isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P06241-1", "PR:P06241-1", "ENSEMBL:ENSP00000346671", "ENSEMBL:ENSP00000346671.3", "ENSEMBL:ENSP00000357656", "ENSEMBL:ENSP00000357656.2"], "information_content": 90.9}
{"id": "NCBIGene:54898", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELOVL2", "equivalent_identifiers": ["NCBIGene:54898", "ENSEMBL:ENSG00000197977", "HGNC:14416", "OMIM:611814", "UMLS:C1422633", "UniProtKB:Q9NXB9", "PR:Q9NXB9", "ENSEMBL:ENSP00000346693", "ENSEMBL:ENSP00000346693.3", "UMLS:C2713416", "MESH:C000630967"], "information_content": 100.0}
{"id": "UniProtKB:P22626-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoproteins A2/B1 isoform B1 (human)", "equivalent_identifiers": ["UniProtKB:P22626-1", "PR:P22626-1", "ENSEMBL:ENSP00000346694", "ENSEMBL:ENSP00000346694.4", "ENSEMBL:ENSP00000349101", "ENSEMBL:ENSP00000349101.8", "ENSEMBL:ENSP00000354021", "ENSEMBL:ENSP00000354021.4", "ENSEMBL:ENSP00000503360", "ENSEMBL:ENSP00000503360.1", "ENSEMBL:ENSP00000503476", "ENSEMBL:ENSP00000503476.1", "ENSEMBL:ENSP00000503514", "ENSEMBL:ENSP00000503514.1", "ENSEMBL:ENSP00000503885", "ENSEMBL:ENSP00000503885.1", "ENSEMBL:ENSP00000504329", "ENSEMBL:ENSP00000504329.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96LC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Bcl-2-modifying factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LC9-1", "PR:Q96LC9-1", "ENSEMBL:ENSP00000346697", "ENSEMBL:ENSP00000346697.4", "ENSEMBL:ENSP00000380703", "ENSEMBL:ENSP00000380703.1", "ENSEMBL:ENSP00000453522", "ENSEMBL:ENSP00000453522.1", "ENSEMBL:ENSP00000453892", "ENSEMBL:ENSP00000453892.1"], "information_content": 100.0}
{"id": "UniProtKB:O00541-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pescadillo homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00541-1", "PR:O00541-1", "ENSEMBL:ENSP00000346725", "ENSEMBL:ENSP00000346725.6"], "information_content": 100.0}
{"id": "UniProtKB:Q86UQ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 589 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UQ0-1", "PR:Q86UQ0-1", "ENSEMBL:ENSP00000346729", "ENSEMBL:ENSP00000346729.3", "ENSEMBL:ENSP00000404592", "ENSEMBL:ENSP00000404592.1"], "information_content": 100.0}
{"id": "NCBIGene:27044", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SND1", "equivalent_identifiers": ["NCBIGene:27044", "ENSEMBL:ENSG00000197157", "HGNC:30646", "OMIM:602181", "UMLS:C1822796", "UniProtKB:A0A140VK49", "UMLS:C1384623", "MESH:C095221", "UniProtKB:Q7KZF4", "PR:Q7KZF4", "ENSEMBL:ENSP00000346762", "ENSEMBL:ENSP00000346762.3", "UMLS:C3275267"], "information_content": 84.8}
{"id": "UniProtKB:O60656-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 1A9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60656-1", "PR:O60656-1", "ENSEMBL:ENSP00000346768", "ENSEMBL:ENSP00000346768.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5F2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin beta-11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5F2-1", "PR:Q9Y5F2-1", "ENSEMBL:ENSP00000346802", "ENSEMBL:ENSP00000346802.3", "ENSEMBL:ENSP00000517199", "ENSEMBL:ENSP00000517199.1"], "information_content": 100.0}
{"id": "NCBIGene:1413", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRYBA4", "equivalent_identifiers": ["NCBIGene:1413", "ENSEMBL:ENSG00000196431", "HGNC:2396", "OMIM:123631", "UMLS:C1413728", "UniProtKB:A0A097PIJ6", "UMLS:C1609646", "MESH:C103907", "UniProtKB:P53673", "PR:P53673", "ENSEMBL:ENSP00000346805", "ENSEMBL:ENSP00000346805.3"], "information_content": 95.4}
{"id": "UniProtKB:Q75T13-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GPI inositol-deacylase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q75T13-1", "PR:Q75T13-1", "ENSEMBL:ENSP00000346809", "ENSEMBL:ENSP00000346809.3"], "information_content": 100.0}
{"id": "UniProtKB:P49189-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "4-trimethylaminobutyraldehyde dehydrogenase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P49189-3", "PR:P49189-3", "ENSEMBL:ENSP00000346827", "ENSEMBL:ENSP00000346827.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5T9L3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein wntless homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5T9L3-2", "PR:Q5T9L3-2", "ENSEMBL:ENSP00000346829", "ENSEMBL:ENSP00000346829.2"], "information_content": 100.0}
{"id": "UniProtKB:P02751-15", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibronectin isoform h15 (human)", "equivalent_identifiers": ["UniProtKB:P02751-15", "PR:P02751-15", "ENSEMBL:ENSP00000346839", "ENSEMBL:ENSP00000346839.4"], "information_content": 100.0}
{"id": "NCBIGene:84188", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAR1", "equivalent_identifiers": ["NCBIGene:84188", "ENSEMBL:ENSG00000197601", "HGNC:26222", "OMIM:616107", "UMLS:C1428564", "UniProtKB:Q8WVX9", "PR:Q8WVX9", "ENSEMBL:ENSP00000346874", "ENSEMBL:ENSP00000346874.3", "ENSEMBL:ENSP00000519445", "ENSEMBL:ENSP00000519445.1", "UMLS:C1529758", "MESH:C493803"], "information_content": 100.0}
{"id": "UniProtKB:P43699-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Nkx-2.1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P43699-3", "PR:P43699-3", "ENSEMBL:ENSP00000346879", "ENSEMBL:ENSP00000346879.6"], "information_content": 100.0}
{"id": "MONDO:0003256", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurohypophysis granular cell tumor", "equivalent_identifiers": ["MONDO:0003256", "DOID:5047", "EFO:1000285", "UMLS:C1333873", "NCIT:C7017", "SNOMEDCT:699331002", "medgen:232255"], "information_content": 100.0}
{"id": "NCBIGene:2551", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABPA", "equivalent_identifiers": ["NCBIGene:2551", "ENSEMBL:ENSG00000154727", "HGNC:4071", "OMIM:600609", "UMLS:C1414905", "UniProtKB:A8IE48", "UMLS:C1436132", "MESH:C495661", "UniProtKB:Q06546", "PR:Q06546", "ENSEMBL:ENSP00000346886", "ENSEMBL:ENSP00000346886.3", "ENSEMBL:ENSP00000382948", "ENSEMBL:ENSP00000382948.3", "UniProtKB:Q8IYS3"], "information_content": 87.2}
{"id": "UniProtKB:O43847-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nardilysin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O43847-2", "PR:O43847-2", "ENSEMBL:ENSP00000346890", "ENSEMBL:ENSP00000346890.7"], "information_content": 100.0}
{"id": "UniProtKB:O75920-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small EDRK-rich factor 1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O75920-1", "PR:O75920-1", "ENSEMBL:ENSP00000346892", "ENSEMBL:ENSP00000346892.3", "ENSEMBL:ENSP00000370126", "ENSEMBL:ENSP00000370126.4", "ENSEMBL:ENSP00000479724", "ENSEMBL:ENSP00000479724.1", "ENSEMBL:ENSP00000480543", "ENSEMBL:ENSP00000480543.1", "ENSEMBL:ENSP00000484795", "ENSEMBL:ENSP00000484795.1", "ENSEMBL:ENSP00000487531", "ENSEMBL:ENSP00000487531.1"], "information_content": 100.0}
{"id": "MONDO:0005532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crohn's colitis", "equivalent_identifiers": ["MONDO:0005532", "DOID:0060192", "EFO:0005622", "UMLS:C0156147", "MEDDRA:10011400", "MEDDRA:10011402", "MEDDRA:10038281", "MEDDRA:10057032", "NCIT:C35211", "NCIT:C37262", "SNOMEDCT:50440006", "medgen:57618", "ICD10:K50.1", "ICD9:555.1"], "information_content": 100.0}
{"id": "UniProtKB:Q01740-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "flavin-containing monooxygenase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q01740-1", "PR:Q01740-1", "ENSEMBL:ENSP00000346901", "ENSEMBL:ENSP00000346901.4", "ENSEMBL:ENSP00000356724", "ENSEMBL:ENSP00000356724.3", "ENSEMBL:ENSP00000481732", "ENSEMBL:ENSP00000481732.1"], "information_content": 100.0}
{"id": "NCBIGene:445372", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM6-TRIM34", "equivalent_identifiers": ["NCBIGene:445372", "ENSEMBL:ENSG00000258588", "HGNC:33440", "UMLS:C2828896", "UniProtKB:B2RNG4", "ENSEMBL:ENSP00000346916", "ENSEMBL:ENSP00000346916.5"]}
{"id": "UniProtKB:Q93015-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-alpha-acetyltransferase 80 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q93015-2", "PR:Q93015-2", "ENSEMBL:ENSP00000346927", "ENSEMBL:ENSP00000346927.4"], "information_content": 100.0}
{"id": "MONDO:0021001", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemochromatosis type 1", "equivalent_identifiers": ["MONDO:0021001", "DOID:0111029", "OMIM:235200", "EFO:0006513", "UMLS:C2827503", "UMLS:C3469186", "NCIT:C84764", "SNOMEDCT:1186847009", "medgen:854011", "ICD10:E83.1"], "information_content": 100.0}
{"id": "NCBIGene:387263", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C6orf120", "equivalent_identifiers": ["NCBIGene:387263", "ENSEMBL:ENSG00000185127", "HGNC:21247", "OMIM:616987", "UMLS:C1427451", "UniProtKB:B4DJ79", "UniProtKB:Q7Z4R8", "PR:Q7Z4R8", "ENSEMBL:ENSP00000346931", "ENSEMBL:ENSP00000346931.1"], "information_content": 95.4}
{"id": "UniProtKB:Q70HW3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial S-adenosylmethionine carrier protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q70HW3-1", "PR:Q70HW3-1", "ENSEMBL:ENSP00000346955", "ENSEMBL:ENSP00000346955.6", "ENSEMBL:ENSP00000488659", "ENSEMBL:ENSP00000488659.1", "ENSEMBL:ENSP00000504323", "ENSEMBL:ENSP00000504323.1"], "information_content": 100.0}
{"id": "MONDO:0013584", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory neuropathy-deafness-dementia syndrome", "equivalent_identifiers": ["MONDO:0013584", "DOID:0070158", "OMIM:614116", "orphanet:456318", "UMLS:C3279885", "MESH:C580162", "SNOMEDCT:860812002", "medgen:481515"], "information_content": 100.0}
{"id": "UniProtKB:Q63HQ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pikachurin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q63HQ2-1", "PR:Q63HQ2-1", "ENSEMBL:ENSP00000346964", "ENSEMBL:ENSP00000346964.3"], "information_content": 100.0}
{"id": "NCBIGene:131920", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM207", "equivalent_identifiers": ["NCBIGene:131920", "ENSEMBL:ENSG00000198398", "HGNC:33705", "OMIM:614786", "UMLS:C2240111", "UniProtKB:Q6UWW9", "PR:Q6UWW9", "ENSEMBL:ENSP00000346981", "ENSEMBL:ENSP00000346981.2", "UMLS:C3491982", "MESH:C571895"], "information_content": 100.0}
{"id": "MONDO:0003448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spiradenoma", "equivalent_identifiers": ["MONDO:0003448", "DOID:5444", "UMLS:C0334347", "MEDDRA:10065278", "NCIT:C4170", "SNOMEDCT:403938001", "SNOMEDCT:4977000", "medgen:90768"], "information_content": 90.9}
{"id": "MONDO:0015643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "photosensitive epilepsy", "equivalent_identifiers": ["MONDO:0015643", "DOID:0060281", "OMIM.PS:132100", "orphanet:166409", "UMLS:C0393720", "UMLS:C0393721", "SNOMEDCT:95208000", "medgen:98285", "icd11.foundation:946957931", "ICD10:G40.8"], "information_content": 89.4}
{"id": "MONDO:0004957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucinous adenocarcinoma", "equivalent_identifiers": ["MONDO:0004957", "DOID:3030", "EFO:0000197", "UMLS:C0007130", "MESH:D002288", "MEDDRA:10061564", "NCIT:C26712", "SNOMEDCT:72495009", "medgen:2844", "icd11.foundation:529352875"], "information_content": 71.9}
{"id": "UniProtKB:Q9BTA9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WW domain-containing adapter protein with coiled-coil isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTA9-1", "PR:Q9BTA9-1", "ENSEMBL:ENSP00000346986", "ENSEMBL:ENSP00000346986.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMJ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "scavenger receptor class A member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMJ2-1", "PR:Q6ZMJ2-1", "ENSEMBL:ENSP00000346990", "ENSEMBL:ENSP00000346990.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H5I1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase SUV39H2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9H5I1-1", "PR:Q9H5I1-1", "ENSEMBL:ENSP00000346997", "ENSEMBL:ENSP00000346997.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y383-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative RNA-binding protein Luc7-like 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y383-1", "PR:Q9Y383-1", "ENSEMBL:ENSP00000347005", "ENSEMBL:ENSP00000347005.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TBX8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBX8-1", "PR:Q8TBX8-1", "ENSEMBL:ENSP00000347032", "ENSEMBL:ENSP00000347032.5", "ENSEMBL:ENSP00000439878", "ENSEMBL:ENSP00000439878.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRQ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid scramblase 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRQ2-1", "PR:Q9NRQ2-1", "ENSEMBL:ENSP00000347038", "ENSEMBL:ENSP00000347038.2", "ENSEMBL:ENSP00000399315", "ENSEMBL:ENSP00000399315.2", "ENSEMBL:ENSP00000419040", "ENSEMBL:ENSP00000419040.1"], "information_content": 100.0}
{"id": "NCBIGene:2331", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FMOD", "equivalent_identifiers": ["NCBIGene:2331", "ENSEMBL:ENSG00000122176", "HGNC:3774", "OMIM:600245", "UMLS:C1414648", "UniProtKB:A0A024R971", "UniProtKB:B3KS64", "UniProtKB:Q06828", "PR:Q06828", "ENSEMBL:ENSP00000347041", "ENSEMBL:ENSP00000347041.4", "UMLS:C1506186", "MESH:C000604330", "UniProtKB:Q12833"], "information_content": 82.1}
{"id": "UniProtKB:O76074-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cGMP-specific 3',5'-cyclic phosphodiesterase isoform hPDE5A1 (human)", "equivalent_identifiers": ["UniProtKB:O76074-1", "PR:O76074-1", "ENSEMBL:ENSP00000347046", "ENSEMBL:ENSP00000347046.3"], "information_content": 100.0}
{"id": "NCBIGene:4635", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYL4", "equivalent_identifiers": ["NCBIGene:4635", "ENSEMBL:ENSG00000198336", "HGNC:7585", "OMIM:160770", "UMLS:C1417549", "UniProtKB:P12829", "PR:P12829", "ENSEMBL:ENSP00000347055", "ENSEMBL:ENSP00000347055.1", "ENSEMBL:ENSP00000377096", "ENSEMBL:ENSP00000377096.1", "ENSEMBL:ENSP00000461570", "ENSEMBL:ENSP00000461570.1", "UMLS:C4041876", "MESH:C000599129"], "information_content": 95.4}
{"id": "UniProtKB:O95461-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "xylosyl- and glucuronyltransferase LARGE1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95461-1", "PR:O95461-1", "ENSEMBL:ENSP00000347088", "ENSEMBL:ENSP00000347088.2", "ENSEMBL:ENSP00000380549", "ENSEMBL:ENSP00000380549.2", "ENSEMBL:ENSP00000415546", "ENSEMBL:ENSP00000415546.2", "ENSEMBL:ENSP00000501854", "ENSEMBL:ENSP00000501854.1", "ENSEMBL:ENSP00000502152", "ENSEMBL:ENSP00000502152.1", "ENSEMBL:ENSP00000502238", "ENSEMBL:ENSP00000502238.1", "ENSEMBL:ENSP00000502826", "ENSEMBL:ENSP00000502826.1"], "information_content": 100.0}
{"id": "UniProtKB:P0C1H6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone H2B type F-M isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P0C1H6-2", "PR:P0C1H6-2", "ENSEMBL:ENSP00000347119", "ENSEMBL:ENSP00000347119.4", "ENSEMBL:ENSP00000502072", "ENSEMBL:ENSP00000502072.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z628-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuroepithelial cell-transforming gene 1 protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z628-1", "PR:Q7Z628-1", "ENSEMBL:ENSP00000347134", "ENSEMBL:ENSP00000347134.4"], "information_content": 100.0}
{"id": "UniProtKB:P07307-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "asialoglycoprotein receptor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P07307-1", "PR:P07307-1", "ENSEMBL:ENSP00000347140", "ENSEMBL:ENSP00000347140.5"], "information_content": 100.0}
{"id": "NCBIGene:79661", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEIL1", "equivalent_identifiers": ["NCBIGene:79661", "ENSEMBL:ENSG00000140398", "HGNC:18448", "OMIM:608844", "UMLS:C1425521", "UniProtKB:Q96FI4", "PR:Q96FI4", "ENSEMBL:ENSP00000347170", "ENSEMBL:ENSP00000347170.4", "ENSEMBL:ENSP00000455730", "ENSEMBL:ENSP00000455730.1", "ENSEMBL:ENSP00000457352", "ENSEMBL:ENSP00000457352.1", "UMLS:C1122828", "MESH:C473634"], "information_content": 90.9}
{"id": "NCBIGene:3064", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTT", "equivalent_identifiers": ["NCBIGene:3064", "ENSEMBL:ENSG00000197386", "HGNC:4851", "OMIM:613004", "UMLS:C1415504", "UniProtKB:P42858", "PR:P42858", "ENSEMBL:ENSP00000347184", "ENSEMBL:ENSP00000347184.5", "UMLS:C0252274", "MESH:C086055"], "information_content": 84.2}
{"id": "NCBIGene:200845", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCTD6", "equivalent_identifiers": ["NCBIGene:200845", "ENSEMBL:ENSG00000168301", "HGNC:22235", "OMIM:618791", "UMLS:C1427766", "UniProtKB:Q8NC69", "PR:Q8NC69", "ENSEMBL:ENSP00000347188", "ENSEMBL:ENSP00000347188.6", "ENSEMBL:ENSP00000384948", "ENSEMBL:ENSP00000384948.3", "ENSEMBL:ENSP00000417490", "ENSEMBL:ENSP00000417490.1"], "information_content": 95.4}
{"id": "NCBIGene:375346", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STIMATE", "equivalent_identifiers": ["NCBIGene:375346", "ENSEMBL:ENSG00000213533", "HGNC:30526", "OMIM:617189", "UMLS:C1823372", "UniProtKB:Q86TL2", "PR:Q86TL2", "ENSEMBL:ENSP00000347195", "ENSEMBL:ENSP00000347195.5", "UMLS:C4076939", "MESH:C000604313"], "information_content": 100.0}
{"id": "NCBIGene:728", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C5AR1", "equivalent_identifiers": ["NCBIGene:728", "ENSEMBL:ENSG00000197405", "HGNC:1338", "OMIM:113995", "UMLS:C1824180", "UniProtKB:P21730", "PR:P21730", "ENSEMBL:ENSP00000347197", "ENSEMBL:ENSP00000347197.2", "UMLS:C1454453", "MESH:C488033"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z6B7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SLIT-ROBO Rho GTPase-activating protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6B7-1", "PR:Q7Z6B7-1", "ENSEMBL:ENSP00000347198", "ENSEMBL:ENSP00000347198.3"], "information_content": 100.0}
{"id": "UniProtKB:O43292-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycosylphosphatidylinositol anchor attachment 1 protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43292-1", "PR:O43292-1", "ENSEMBL:ENSP00000347206", "ENSEMBL:ENSP00000347206.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5L3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ectonucleoside triphosphate diphosphohydrolase 2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5L3-1", "PR:Q9Y5L3-1", "ENSEMBL:ENSP00000347213", "ENSEMBL:ENSP00000347213.2"], "information_content": 100.0}
{"id": "NCBIGene:641", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BLM", "equivalent_identifiers": ["NCBIGene:641", "ENSEMBL:ENSG00000197299", "HGNC:1058", "OMIM:604610", "UMLS:C1337098", "UniProtKB:B7ZKN7", "UniProtKB:H0YNU5", "ENSEMBL:ENSP00000454158", "ENSEMBL:ENSP00000454158.1", "UniProtKB:P54132", "PR:P54132", "ENSEMBL:ENSP00000347232", "ENSEMBL:ENSP00000347232.3", "ENSEMBL:ENSP00000506117", "ENSEMBL:ENSP00000506117.1", "UMLS:C1741784"], "information_content": 86.3}
{"id": "UniProtKB:Q9NZM3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intersectin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZM3-1", "PR:Q9NZM3-1", "ENSEMBL:ENSP00000347244", "ENSEMBL:ENSP00000347244.4"], "information_content": 100.0}
{"id": "UniProtKB:Q86TS9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein mL52 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86TS9-1", "PR:Q86TS9-1", "ENSEMBL:ENSP00000347277", "ENSEMBL:ENSP00000347277.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXL7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methionine-R-sulfoxide reductase B3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXL7-1", "PR:Q8IXL7-1", "ENSEMBL:ENSP00000347324", "ENSEMBL:ENSP00000347324.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y535-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed RNA polymerase III subunit RPC8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y535-1", "PR:Q9Y535-1", "ENSEMBL:ENSP00000347345", "ENSEMBL:ENSP00000347345.4", "ENSEMBL:ENSP00000379761", "ENSEMBL:ENSP00000379761.2", "ENSEMBL:ENSP00000385315", "ENSEMBL:ENSP00000385315.1"], "information_content": 100.0}
{"id": "UniProtKB:P43364-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanoma-associated antigen 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43364-1", "PR:P43364-1", "ENSEMBL:ENSP00000347358", "ENSEMBL:ENSP00000347358.5"], "information_content": 100.0}
{"id": "UniProtKB:Q16625-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "occludin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16625-1", "PR:Q16625-1", "ENSEMBL:ENSP00000347379", "ENSEMBL:ENSP00000347379.2", "ENSEMBL:ENSP00000379719", "ENSEMBL:ENSP00000379719.2", "ENSEMBL:ENSP00000505426", "ENSEMBL:ENSP00000505426.1", "ENSEMBL:ENSP00000505541", "ENSEMBL:ENSP00000505541.1", "ENSEMBL:ENSP00000506162", "ENSEMBL:ENSP00000506162.1"], "information_content": 100.0}
{"id": "NCBIGene:26985", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AP3M1", "equivalent_identifiers": ["NCBIGene:26985", "ENSEMBL:ENSG00000185009", "HGNC:569", "OMIM:610366", "UMLS:C1412449", "UniProtKB:B4DRN6", "UniProtKB:Q9Y2T2", "PR:Q9Y2T2", "ENSEMBL:ENSP00000347408", "ENSEMBL:ENSP00000347408.4", "ENSEMBL:ENSP00000361831", "ENSEMBL:ENSP00000361831.1"], "information_content": 88.2}
{"id": "NCBIGene:3792", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KEL", "equivalent_identifiers": ["NCBIGene:3792", "ENSEMBL:ENSG00000197993", "HGNC:6308", "OMIM:613883", "UMLS:C1416625", "UniProtKB:A0A077QP03", "UniProtKB:P23276", "PR:P23276", "ENSEMBL:ENSP00000347409", "ENSEMBL:ENSP00000347409.2", "ENSEMBL:ENSP00000477793", "ENSEMBL:ENSP00000477793.1", "UMLS:C3710659", "MESH:C585978"], "information_content": 90.9}
{"id": "NCBIGene:79310", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5H2", "equivalent_identifiers": ["NCBIGene:79310", "ENSEMBL:ENSG00000197938", "HGNC:14752", "UMLS:C1422902", "UniProtKB:Q8NGV7", "PR:Q8NGV7", "ENSEMBL:ENSP00000347418", "ENSEMBL:ENSP00000347418.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4C8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "misshapen-like kinase 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4C8-1", "PR:Q8N4C8-1", "ENSEMBL:ENSP00000347427", "ENSEMBL:ENSP00000347427.6"], "information_content": 100.0}
{"id": "NCBIGene:81466", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2L5", "equivalent_identifiers": ["NCBIGene:81466", "ENSEMBL:ENSG00000197454", "HGNC:15011", "UMLS:C1423133", "UniProtKB:A0A126GWR8", "UMLS:C5829046", "MESH:C000728545", "UniProtKB:Q8NG80", "PR:Q8NG80", "ENSEMBL:ENSP00000347428", "ENSEMBL:ENSP00000347428.1"], "information_content": 100.0}
{"id": "MONDO:0002751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bladder adenocarcinoma", "equivalent_identifiers": ["MONDO:0002751", "DOID:3711", "EFO:1000125", "UMLS:C0279682", "MEDDRA:10004985", "NCIT:C39836", "NCIT:C4032", "SNOMEDCT:255110003", "medgen:76014"], "information_content": 80.9}
{"id": "MONDO:0000502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "villous adenoma", "equivalent_identifiers": ["MONDO:0000502", "DOID:0050869", "UMLS:C0206674", "UMLS:C5966190", "MESH:D018253", "NCIT:C7399", "SNOMEDCT:128859003", "medgen:60206"], "information_content": 83.6}
{"id": "MONDO:0004118", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cystitis cystica", "equivalent_identifiers": ["MONDO:0004118", "DOID:7138", "UMLS:C0152262", "MEDDRA:10011788", "NCIT:C96230", "SNOMEDCT:13285005", "medgen:472898", "ICD9:595.81"], "information_content": 100.0}
{"id": "NCBIGene:147495", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APCDD1", "equivalent_identifiers": ["NCBIGene:147495", "ENSEMBL:ENSG00000154856", "HGNC:15718", "OMIM:607479", "UMLS:C1423681", "UniProtKB:Q8J025", "PR:Q8J025", "ENSEMBL:ENSP00000347433", "ENSEMBL:ENSP00000347433.4", "UMLS:C2934168", "MESH:C549624"], "information_content": 95.4}
{"id": "UniProtKB:Q8NHU6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tudor domain-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHU6-1", "PR:Q8NHU6-1", "ENSEMBL:ENSP00000347444", "ENSEMBL:ENSP00000347444.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96FE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FE5-1", "PR:Q96FE5-1", "ENSEMBL:ENSP00000347451", "ENSEMBL:ENSP00000347451.6"], "information_content": 100.0}
{"id": "UniProtKB:Q5XXA6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anoctamin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5XXA6-1", "PR:Q5XXA6-1", "ENSEMBL:ENSP00000347454", "ENSEMBL:ENSP00000347454.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQ16-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynamin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ16-1", "PR:Q9UQ16-1", "ENSEMBL:ENSP00000347457", "ENSEMBL:ENSP00000347457.5"], "information_content": 100.0}
{"id": "UniProtKB:Q14161-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ARF GTPase-activating protein GIT2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14161-1", "PR:Q14161-1", "ENSEMBL:ENSP00000347464", "ENSEMBL:ENSP00000347464.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thrombospondin type-1 domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMP0-1", "PR:Q6ZMP0-1", "ENSEMBL:ENSP00000261862", "ENSEMBL:ENSP00000261862.8", "ENSEMBL:ENSP00000347484", "ENSEMBL:ENSP00000347484.3"], "information_content": 100.0}
{"id": "UniProtKB:P23381-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tryptophan--tRNA ligase, cytoplasmic isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P23381-1", "PR:P23381-1", "ENSEMBL:ENSP00000347495", "ENSEMBL:ENSP00000347495.2", "ENSEMBL:ENSP00000376620", "ENSEMBL:ENSP00000376620.2", "ENSEMBL:ENSP00000451460", "ENSEMBL:ENSP00000451460.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96K21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "abscission/NoCut checkpoint regulator isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96K21-1", "PR:Q96K21-1", "ENSEMBL:ENSP00000347498", "ENSEMBL:ENSP00000347498.4"], "information_content": 100.0}
{"id": "NCBIGene:4625", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYH7", "equivalent_identifiers": ["NCBIGene:4625", "ENSEMBL:ENSG00000092054", "HGNC:7577", "OMIM:160760", "UMLS:C1417542", "UniProtKB:P12883", "PR:P12883", "ENSEMBL:ENSP00000347507", "ENSEMBL:ENSP00000347507.3", "ENSEMBL:ENSP00000519071", "ENSEMBL:ENSP00000519071.1", "UMLS:C1570487", "MESH:C501641"], "information_content": 95.4}
{"id": "UniProtKB:A0MZ66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "shootin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A0MZ66-1", "PR:A0MZ66-1", "ENSEMBL:ENSP00000347532", "ENSEMBL:ENSP00000347532.4"], "information_content": 100.0}
{"id": "NCBIGene:51760", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYT17", "equivalent_identifiers": ["NCBIGene:51760", "ENSEMBL:ENSG00000103528", "HGNC:24119", "UMLS:C1823167", "UniProtKB:H3BN78", "ENSEMBL:ENSP00000454721", "ENSEMBL:ENSP00000454721.2", "UMLS:C1723428", "MESH:C511935", "UniProtKB:H3BQZ6", "ENSEMBL:ENSP00000456009", "ENSEMBL:ENSP00000456009.1", "UniProtKB:H3BRH9", "ENSEMBL:ENSP00000456252", "ENSEMBL:ENSP00000456252.1", "UniProtKB:Q9BSW7", "PR:Q9BSW7", "ENSEMBL:ENSP00000347538", "ENSEMBL:ENSP00000347538.2"], "information_content": 95.4}
{"id": "UniProtKB:Q5VTB9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF220 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VTB9-1", "PR:Q5VTB9-1", "ENSEMBL:ENSP00000347548", "ENSEMBL:ENSP00000347548.2", "ENSEMBL:ENSP00000354872", "ENSEMBL:ENSP00000354872.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6NUT3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "major facilitator superfamily domain-containing protein 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NUT3-1", "PR:Q6NUT3-1", "ENSEMBL:ENSP00000347583", "ENSEMBL:ENSP00000347583.1"], "information_content": 100.0}
{"id": "MONDO:0004720", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "variola minor", "equivalent_identifiers": ["MONDO:0004720", "DOID:9153", "UMLS:C0001906", "MEDDRA:10001555", "NCIT:C34365", "SNOMEDCT:72294005", "medgen:1393", "ICD9:050.1"], "information_content": 100.0}
{"id": "UniProtKB:P56159-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GDNF family receptor alpha-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P56159-1", "PR:P56159-1", "ENSEMBL:ENSP00000347591", "ENSEMBL:ENSP00000347591.6", "ENSEMBL:ENSP00000358237", "ENSEMBL:ENSP00000358237.4"], "information_content": 100.0}
{"id": "UniProtKB:P29374-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AT-rich interactive domain-containing protein 4A isoform I (human)", "equivalent_identifiers": ["UniProtKB:P29374-1", "PR:P29374-1", "ENSEMBL:ENSP00000347602", "ENSEMBL:ENSP00000347602.3"], "information_content": 100.0}
{"id": "NCBIGene:23386", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUDCD3", "equivalent_identifiers": ["NCBIGene:23386", "ENSEMBL:ENSG00000015676", "HGNC:22208", "OMIM:610296", "UMLS:C1538498", "UniProtKB:Q8IVD9", "PR:Q8IVD9", "ENSEMBL:ENSP00000347626", "ENSEMBL:ENSP00000347626.6", "UMLS:C1742450", "MESH:C513128"], "information_content": 95.4}
{"id": "NCBIGene:140258", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP13-1", "equivalent_identifiers": ["NCBIGene:140258", "ENSEMBL:ENSG00000198390", "HGNC:18924", "OMIM:608718", "UMLS:C1425892", "UniProtKB:Q8IUC0", "PR:Q8IUC0", "ENSEMBL:ENSP00000347635", "ENSEMBL:ENSP00000347635.2"], "information_content": 100.0}
{"id": "MONDO:0024228", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "miliaria profunda", "equivalent_identifiers": ["MONDO:0024228", "DOID:0070320", "UMLS:C0263468", "MEDDRA:10057045", "SNOMEDCT:47317002", "medgen:537908", "icd11.foundation:1540615212", "ICD10:L74.2"], "information_content": 100.0}
{"id": "MONDO:0850426", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "high-grade B-cell lymphoma double-hit/triple-hit", "equivalent_identifiers": ["MONDO:0850426", "DOID:0081004", "UMLS:C4285066", "MEDDRA:10080202", "NCIT:C125904"], "information_content": 85.5}
{"id": "MONDO:0024229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "miliaria crystallina", "equivalent_identifiers": ["MONDO:0024229", "DOID:0070321", "UMLS:C3241961", "MEDDRA:10042660", "MEDDRA:10057044", "medgen:757640", "icd11.foundation:796835029", "ICD10:L74.1"], "information_content": 100.0}
{"id": "MONDO:0006581", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "miliaria rubra", "equivalent_identifiers": ["MONDO:0006581", "DOID:11153", "EFO:1000735", "UMLS:C0162423", "MEDDRA:10019343", "MEDDRA:10027628", "MEDDRA:10036667", "MEDDRA:10085607", "SNOMEDCT:44279002", "SNOMEDCT:72658003", "medgen:57902", "icd11.foundation:1245016385", "ICD10:L74.0", "ICD9:705.1"], "information_content": 100.0}
{"id": "NCBIGene:6666", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOX12", "equivalent_identifiers": ["NCBIGene:6666", "ENSEMBL:ENSG00000177732", "HGNC:11198", "OMIM:601947", "UMLS:C1420325", "UniProtKB:O15370", "PR:O15370", "ENSEMBL:ENSP00000347646", "ENSEMBL:ENSP00000347646.1", "UMLS:C0664197", "MESH:C107423"], "information_content": 92.8}
{"id": "NCBIGene:10609", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "P3H4", "equivalent_identifiers": ["NCBIGene:10609", "ENSEMBL:ENSG00000141696", "HGNC:16946", "OMIM:617419", "UMLS:C3147747", "UniProtKB:Q92791", "PR:Q92791", "ENSEMBL:ENSP00000347649", "ENSEMBL:ENSP00000347649.2", "ENSEMBL:ENSP00000377505", "ENSEMBL:ENSP00000377505.1", "UMLS:C3657447", "MESH:C581197"], "information_content": 100.0}
{"id": "UniProtKB:P43250-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G protein-coupled receptor kinase 6 isoform GRK6A (human)", "equivalent_identifiers": ["UniProtKB:P43250-1", "PR:P43250-1", "ENSEMBL:ENSP00000347655", "ENSEMBL:ENSP00000347655.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAA9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Vang-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAA9-1", "PR:Q8TAA9-1", "ENSEMBL:ENSP00000310800", "ENSEMBL:ENSP00000310800.3", "ENSEMBL:ENSP00000347672", "ENSEMBL:ENSP00000347672.2", "ENSEMBL:ENSP00000358522", "ENSEMBL:ENSP00000358522.1"], "information_content": 100.0}
{"id": "UniProtKB:O60663-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM homeobox transcription factor 1-beta isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O60663-3", "PR:O60663-3", "ENSEMBL:ENSP00000347684", "ENSEMBL:ENSP00000347684.5"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000347689", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000347689", "equivalent_identifiers": ["ENSEMBL:ENSP00000347689"]}
{"id": "UniProtKB:O60890-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oligophrenin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60890-1", "PR:O60890-1", "ENSEMBL:ENSP00000347710", "ENSEMBL:ENSP00000347710.5"], "information_content": 100.0}
{"id": "NCBIGene:145741", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C2CD4A", "equivalent_identifiers": ["NCBIGene:145741", "ENSEMBL:ENSG00000198535", "HGNC:33627", "OMIM:610343", "UMLS:C1835909", "UniProtKB:Q8NCU7", "PR:Q8NCU7", "ENSEMBL:ENSP00000347712", "ENSEMBL:ENSP00000347712.5", "UMLS:C1530562", "MESH:C494527"], "information_content": 100.0}
{"id": "UniProtKB:P24071-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "immunoglobulin alpha Fc receptor isoform hA.1 (human)", "equivalent_identifiers": ["UniProtKB:P24071-1", "PR:P24071-1", "ENSEMBL:ENSP00000347714", "ENSEMBL:ENSP00000347714.3", "ENSEMBL:ENSP00000478465", "ENSEMBL:ENSP00000478465.1", "ENSEMBL:ENSP00000479738", "ENSEMBL:ENSP00000479738.1", "ENSEMBL:ENSP00000481195", "ENSEMBL:ENSP00000481195.1", "ENSEMBL:ENSP00000481502", "ENSEMBL:ENSP00000481502.1", "ENSEMBL:ENSP00000482334", "ENSEMBL:ENSP00000482334.1", "ENSEMBL:ENSP00000482623", "ENSEMBL:ENSP00000482623.1", "ENSEMBL:ENSP00000482807", "ENSEMBL:ENSP00000482807.1", "ENSEMBL:ENSP00000483099", "ENSEMBL:ENSP00000483099.1", "ENSEMBL:ENSP00000492230", "ENSEMBL:ENSP00000492230.1", "ENSEMBL:ENSP00000492447", "ENSEMBL:ENSP00000492447.1", "ENSEMBL:ENSP00000492529", "ENSEMBL:ENSP00000492529.2"], "information_content": 100.0}
{"id": "UniProtKB:Q92782-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein neuro-d4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92782-2", "PR:Q92782-2", "ENSEMBL:ENSP00000347716", "ENSEMBL:ENSP00000347716.5"], "information_content": 100.0}
{"id": "NCBIGene:1717", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DHCR7", "equivalent_identifiers": ["NCBIGene:1717", "ENSEMBL:ENSG00000172893", "HGNC:2860", "OMIM:602858", "UMLS:C1414040", "UniProtKB:A0A024R5F7", "UniProtKB:A0A804HI25", "ENSEMBL:ENSP00000506866", "ENSEMBL:ENSP00000506866.1", "UniProtKB:A0A804HJQ7", "ENSEMBL:ENSP00000507607", "ENSEMBL:ENSP00000507607.1", "UniProtKB:A0A8I5KRR9", "ENSEMBL:ENSP00000510750", "ENSEMBL:ENSP00000510750.1", "UniProtKB:E9PM00", "ENSEMBL:ENSP00000435047", "ENSEMBL:ENSP00000435047.2", "UniProtKB:Q9UBM7", "PR:Q9UBM7", "ENSEMBL:ENSP00000347717", "ENSEMBL:ENSP00000347717.4", "ENSEMBL:ENSP00000384739", "ENSEMBL:ENSP00000384739.2", "ENSEMBL:ENSP00000435668", "ENSEMBL:ENSP00000435668.2", "ENSEMBL:ENSP00000435707", "ENSEMBL:ENSP00000435707.3", "UMLS:C0049866", "MESH:C019995"], "information_content": 86.3}
{"id": "UniProtKB:Q9BTW9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin-specific chaperone D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTW9-1", "PR:Q9BTW9-1", "ENSEMBL:ENSP00000347719", "ENSEMBL:ENSP00000347719.4"], "information_content": 100.0}
{"id": "NCBIGene:9745", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF536", "equivalent_identifiers": ["NCBIGene:9745", "ENSEMBL:ENSG00000198597", "HGNC:29025", "OMIM:618037", "UMLS:C1428779", "UniProtKB:A0A994J7Z0", "ENSEMBL:ENSP00000516231", "ENSEMBL:ENSP00000516231.1", "ENSEMBL:ENSP00000516233", "ENSEMBL:ENSP00000516233.1", "UniProtKB:K7EQN6", "ENSEMBL:ENSP00000467909", "ENSEMBL:ENSP00000467909.3", "UniProtKB:O15090", "PR:O15090", "ENSEMBL:ENSP00000347730", "ENSEMBL:ENSP00000347730.1", "ENSEMBL:ENSP00000516226", "ENSEMBL:ENSP00000516226.1", "ENSEMBL:ENSP00000516228", "ENSEMBL:ENSP00000516228.1", "ENSEMBL:ENSP00000516229", "ENSEMBL:ENSP00000516229.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86UT5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86UT5-2", "PR:Q86UT5-2", "ENSEMBL:ENSP00000347742", "ENSEMBL:ENSP00000347742.5"], "information_content": 100.0}
{"id": "UniProtKB:P46098-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-hydroxytryptamine receptor 3A isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P46098-5", "PR:P46098-5", "ENSEMBL:ENSP00000347754", "ENSEMBL:ENSP00000347754.2"], "information_content": 100.0}
{"id": "UniProtKB:P52738-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 140 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P52738-1", "PR:P52738-1", "ENSEMBL:ENSP00000347755", "ENSEMBL:ENSP00000347755.2"], "information_content": 100.0}
{"id": "NCBIGene:341676", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEK5", "equivalent_identifiers": ["NCBIGene:341676", "ENSEMBL:ENSG00000197168", "HGNC:7748", "OMIM:616731", "UMLS:C1417674", "UniProtKB:A0A8I5KQI9", "ENSEMBL:ENSP00000509632", "ENSEMBL:ENSP00000509632.1", "UniProtKB:Q6P3R8", "PR:Q6P3R8", "ENSEMBL:ENSP00000347767", "ENSEMBL:ENSP00000347767.4", "ENSEMBL:ENSP00000477810", "ENSEMBL:ENSP00000477810.1", "UMLS:C4078901", "MESH:C000603592"], "information_content": 100.0}
{"id": "UniProtKB:Q96RN1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis anion transporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RN1-1", "PR:Q96RN1-1", "ENSEMBL:ENSP00000347778", "ENSEMBL:ENSP00000347778.2", "ENSEMBL:ENSP00000417638", "ENSEMBL:ENSP00000417638.1"], "information_content": 100.0}
{"id": "UniProtKB:O15056-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptojanin-2 isoform h2B2 (human)", "equivalent_identifiers": ["UniProtKB:O15056-1", "PR:O15056-1", "ENSEMBL:ENSP00000347792", "ENSEMBL:ENSP00000347792.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N283-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 35 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N283-1", "PR:Q8N283-1", "ENSEMBL:ENSP00000347802", "ENSEMBL:ENSP00000347802.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TE76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MORC family CW-type zinc finger protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TE76-1", "PR:Q8TE76-1", "ENSEMBL:ENSP00000347821", "ENSEMBL:ENSP00000347821.4"], "information_content": 100.0}
{"id": "MONDO:0012348", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 8", "equivalent_identifiers": ["MONDO:0012348", "DOID:0111105", "OMIM:609812", "UMLS:C1853297", "MESH:C565225", "SNOMEDCT:609575003", "medgen:342845"], "information_content": 100.0}
{"id": "NCBIGene:390792", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT39", "equivalent_identifiers": ["NCBIGene:390792", "ENSEMBL:ENSG00000196859", "HGNC:32971", "OMIM:616678", "UMLS:C1825755", "UniProtKB:Q6A163", "PR:Q6A163", "ENSEMBL:ENSP00000347823", "ENSEMBL:ENSP00000347823.2", "ENSEMBL:ENSP00000459016", "ENSEMBL:ENSP00000459016.1"], "information_content": 100.0}
{"id": "NCBIGene:26224", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXL3", "equivalent_identifiers": ["NCBIGene:26224", "ENSEMBL:ENSG00000005812", "HGNC:13599", "OMIM:605653", "UMLS:C1539480", "UniProtKB:Q9UKT7", "PR:Q9UKT7", "ENSEMBL:ENSP00000347834", "ENSEMBL:ENSP00000347834.5", "UMLS:C1957068", "MESH:C519795"], "information_content": 87.2}
{"id": "UniProtKB:P62256-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 H isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62256-1", "PR:P62256-1", "ENSEMBL:ENSP00000347836", "ENSEMBL:ENSP00000347836.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UK61-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein TASOR isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9UK61-4", "PR:Q9UK61-4", "ENSEMBL:ENSP00000347845", "ENSEMBL:ENSP00000347845.5"], "information_content": 100.0}
{"id": "UniProtKB:O94875-11", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorbin and SH3 domain-containing protein 2 isoform h11 (human)", "equivalent_identifiers": ["UniProtKB:O94875-11", "PR:O94875-11", "ENSEMBL:ENSP00000347852", "ENSEMBL:ENSP00000347852.5"], "information_content": 100.0}
{"id": "UniProtKB:Q99536-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptic vesicle membrane protein VAT-1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99536-1", "PR:Q99536-1", "ENSEMBL:ENSP00000347872", "ENSEMBL:ENSP00000347872.2"], "information_content": 100.0}
{"id": "MONDO:0010632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 1", "equivalent_identifiers": ["MONDO:0010632", "DOID:0080468", "OMIM:308350", "UMLS:C3463992", "NCIT:C179866", "medgen:483052"], "information_content": 100.0}
{"id": "NCBIGene:114785", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MBD6", "equivalent_identifiers": ["NCBIGene:114785", "ENSEMBL:ENSG00000166987", "HGNC:20445", "OMIM:619458", "UMLS:C1426943", "UniProtKB:Q6P0P0", "UMLS:C2974133", "MESH:C553236", "UniProtKB:Q96DN6", "PR:Q96DN6", "ENSEMBL:ENSP00000347896", "ENSEMBL:ENSP00000347896.3"], "information_content": 95.4}
{"id": "NCBIGene:92104", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFT70A", "equivalent_identifiers": ["NCBIGene:92104", "ENSEMBL:ENSG00000197557", "HGNC:25853", "OMIM:620741", "UMLS:C1823534", "UniProtKB:Q86WT1", "PR:Q86WT1", "ENSEMBL:ENSP00000347915", "ENSEMBL:ENSP00000347915.4"], "information_content": 95.4}
{"id": "UniProtKB:Q5QGZ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 12 member A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5QGZ9-1", "PR:Q5QGZ9-1", "ENSEMBL:ENSP00000347916", "ENSEMBL:ENSP00000347916.4"], "information_content": 100.0}
{"id": "MONDO:0011908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "juvenile myelomonocytic leukemia", "equivalent_identifiers": ["MONDO:0011908", "DOID:0050458", "OMIM:607785", "orphanet:86834", "EFO:1000309", "UMLS:C0349639", "MESH:D054429", "MEDDRA:10023248", "MEDDRA:10023249", "MEDDRA:10054439", "MEDDRA:10060498", "NCIT:C9233", "SNOMEDCT:128832006", "SNOMEDCT:277587001", "SNOMEDCT:445227008", "medgen:138109", "icd11.foundation:1786015803", "ICD10:C93.3", "HP:0012209"], "information_content": 82.6}
{"id": "UniProtKB:Q6P4A7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sideroflexin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P4A7-1", "PR:Q6P4A7-1", "ENSEMBL:ENSP00000347924", "ENSEMBL:ENSP00000347924.2"], "information_content": 100.0}
{"id": "UniProtKB:Q02325", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PLGB_HUMAN Plasminogen-like protein B (sprot)", "equivalent_identifiers": ["UniProtKB:Q02325", "PR:Q02325", "ENSEMBL:ENSP00000347933", "ENSEMBL:ENSP00000347933.3", "ENSEMBL:ENSP00000352458", "ENSEMBL:ENSP00000352458.4", "ENSEMBL:ENSP00000386317", "ENSEMBL:ENSP00000386317.3", "ENSEMBL:ENSP00000386505", "ENSEMBL:ENSP00000386505.2", "ENSEMBL:ENSP00000386975", "ENSEMBL:ENSP00000386975.1"], "information_content": 92.8}
{"id": "UniProtKB:P07949-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proto-oncogene tyrosine-protein kinase receptor Ret isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P07949-1", "PR:P07949-1", "ENSEMBL:ENSP00000347942", "ENSEMBL:ENSP00000347942.3"], "information_content": 100.0}
{"id": "DOID:0080137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple endocrine neoplasia type 4", "equivalent_identifiers": ["DOID:0080137", "OMIM:610755", "UMLS:C1970712", "MESH:C567059", "NCIT:C157449", "SNOMEDCT:715907003"], "information_content": 92.8}
{"id": "UniProtKB:Q92956-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92956-1", "PR:Q92956-1", "ENSEMBL:ENSP00000347948", "ENSEMBL:ENSP00000347948.4", "ENSEMBL:ENSP00000478308", "ENSEMBL:ENSP00000478308.1"], "information_content": 100.0}
{"id": "NCBIGene:50613", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBQLN3", "equivalent_identifiers": ["NCBIGene:50613", "ENSEMBL:ENSG00000175520", "HGNC:12510", "OMIM:605473", "UMLS:C1421306", "UniProtKB:A0A140VJZ3", "UMLS:C1309563", "MESH:C410825", "UniProtKB:Q9H347", "PR:Q9H347", "ENSEMBL:ENSP00000347997", "ENSEMBL:ENSP00000347997.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86UA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pre-mRNA-processing factor 39 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UA1-1", "PR:Q86UA1-1", "ENSEMBL:ENSP00000348010", "ENSEMBL:ENSP00000348010.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRA2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRA2-1", "PR:Q9NRA2-1", "ENSEMBL:ENSP00000348019", "ENSEMBL:ENSP00000348019.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHC1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA mismatch repair protein Mlh3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHC1-1", "PR:Q9UHC1-1", "ENSEMBL:ENSP00000348020", "ENSEMBL:ENSP00000348020.2"], "information_content": 100.0}
{"id": "NCBIGene:391189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR11L1", "equivalent_identifiers": ["NCBIGene:391189", "ENSEMBL:ENSG00000197591", "HGNC:14998", "UMLS:C1423124", "UniProtKB:Q8NGX0", "PR:Q8NGX0", "ENSEMBL:ENSP00000348033", "ENSEMBL:ENSP00000348033.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z4G1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "COMM domain-containing protein 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4G1-2", "PR:Q7Z4G1-2", "ENSEMBL:ENSP00000348054", "ENSEMBL:ENSP00000348054.4"], "information_content": 100.0}
{"id": "NCBIGene:7329", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2I", "equivalent_identifiers": ["NCBIGene:7329", "ENSEMBL:ENSG00000103275", "HGNC:12485", "OMIM:601661", "UMLS:C1421283", "UniProtKB:A8K503", "UniProtKB:P63279", "PR:P63279", "ENSEMBL:ENSP00000324897", "ENSEMBL:ENSP00000324897.5", "ENSEMBL:ENSP00000348056", "ENSEMBL:ENSP00000348056.4", "ENSEMBL:ENSP00000380649", "ENSEMBL:ENSP00000380649.3", "ENSEMBL:ENSP00000380650", "ENSEMBL:ENSP00000380650.2", "ENSEMBL:ENSP00000384568", "ENSEMBL:ENSP00000384568.1", "ENSEMBL:ENSP00000385009", "ENSEMBL:ENSP00000385009.2", "ENSEMBL:ENSP00000455893", "ENSEMBL:ENSP00000455893.2", "ENSEMBL:ENSP00000456188", "ENSEMBL:ENSP00000456188.2", "ENSEMBL:ENSP00000457064", "ENSEMBL:ENSP00000457064.1", "ENSEMBL:ENSP00000490882", "ENSEMBL:ENSP00000490882.2", "ENSEMBL:ENSP00000518663", "ENSEMBL:ENSP00000518663.1", "ENSEMBL:ENSP00000518664", "ENSEMBL:ENSP00000518664.1", "ENSEMBL:ENSP00000518670", "ENSEMBL:ENSP00000518670.1", "ENSEMBL:ENSP00000518673", "ENSEMBL:ENSP00000518673.1", "ENSEMBL:ENSP00000518678", "ENSEMBL:ENSP00000518678.1", "ENSEMBL:ENSP00000518679", "ENSEMBL:ENSP00000518679.1", "ENSEMBL:ENSP00000518681", "ENSEMBL:ENSP00000518681.1", "ENSEMBL:ENSP00000518682", "ENSEMBL:ENSP00000518682.1", "ENSEMBL:ENSP00000518683", "ENSEMBL:ENSP00000518683.1", "ENSEMBL:ENSP00000518685", "ENSEMBL:ENSP00000518685.1", "ENSEMBL:ENSP00000518686", "ENSEMBL:ENSP00000518686.1", "ENSEMBL:ENSP00000518687", "ENSEMBL:ENSP00000518687.1", "ENSEMBL:ENSP00000518688", "ENSEMBL:ENSP00000518688.1", "ENSEMBL:ENSP00000518694", "ENSEMBL:ENSP00000518694.1", "ENSEMBL:ENSP00000518696", "ENSEMBL:ENSP00000518696.1", "ENSEMBL:ENSP00000518700", "ENSEMBL:ENSP00000518700.1", "ENSEMBL:ENSP00000518706", "ENSEMBL:ENSP00000518706.1", "ENSEMBL:ENSP00000518707", "ENSEMBL:ENSP00000518707.1", "ENSEMBL:ENSP00000518709", "ENSEMBL:ENSP00000518709.1", "ENSEMBL:ENSP00000518711", "ENSEMBL:ENSP00000518711.1", "ENSEMBL:ENSP00000518713", "ENSEMBL:ENSP00000518713.1", "ENSEMBL:ENSP00000519217", "ENSEMBL:ENSP00000519217.1", "UMLS:C0534043", "MESH:C000730296", "UniProtKB:Q7KZS0"], "information_content": 88.2}
{"id": "UniProtKB:Q13508-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ecto-ADP-ribosyltransferase 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q13508-1", "PR:Q13508-1", "ENSEMBL:ENSP00000348064", "ENSEMBL:ENSP00000348064.4"], "information_content": 100.0}
{"id": "UniProtKB:P36956-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sterol regulatory element-binding protein 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P36956-4", "PR:P36956-4", "ENSEMBL:ENSP00000348069", "ENSEMBL:ENSP00000348069.4"], "information_content": 100.0}
{"id": "NCBIGene:283420", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLEC9A", "equivalent_identifiers": ["NCBIGene:283420", "ENSEMBL:ENSG00000197992", "HGNC:26705", "OMIM:612252", "UMLS:C1539103", "UniProtKB:Q6UXN8", "PR:Q6UXN8", "ENSEMBL:ENSP00000348074", "ENSEMBL:ENSP00000348074.1"], "information_content": 95.4}
{"id": "UniProtKB:A0A0A0MRD0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A0A0MRD0_HUMAN Family with sequence similarity 227 member A (trembl)", "equivalent_identifiers": ["UniProtKB:A0A0A0MRD0", "ENSEMBL:ENSP00000348086", "ENSEMBL:ENSP00000348086.7"]}
{"id": "UniProtKB:Q03468-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000348089", "equivalent_identifiers": ["UniProtKB:Q03468-1", "ENSEMBL:ENSP00000348089", "ENSEMBL:ENSP00000348089.5"]}
{"id": "UniProtKB:Q9NR12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PDZ and LIM domain protein 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR12-1", "PR:Q9NR12-1", "ENSEMBL:ENSP00000348099", "ENSEMBL:ENSP00000348099.2"], "information_content": 100.0}
{"id": "NCBIGene:10438", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1D", "equivalent_identifiers": ["NCBIGene:10438", "ENSEMBL:ENSG00000197223", "HGNC:29911", "OMIM:606997", "UMLS:C1846978", "UniProtKB:Q13901", "PR:Q13901", "ENSEMBL:ENSP00000348107", "ENSEMBL:ENSP00000348107.3", "ENSEMBL:ENSP00000386468", "ENSEMBL:ENSP00000386468.3", "ENSEMBL:ENSP00000386779", "ENSEMBL:ENSP00000386779.1", "UMLS:C1431707", "MESH:C117400"], "information_content": 95.4}
{"id": "UniProtKB:O75525-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75525-1", "PR:O75525-1", "ENSEMBL:ENSP00000348108", "ENSEMBL:ENSP00000348108.5"], "information_content": 100.0}
{"id": "UniProtKB:O95425-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "supervillin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95425-1", "PR:O95425-1", "ENSEMBL:ENSP00000348128", "ENSEMBL:ENSP00000348128.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXU1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase 31 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXU1-1", "PR:Q9BXU1-1", "ENSEMBL:ENSP00000348132", "ENSEMBL:ENSP00000348132.3"], "information_content": 100.0}
{"id": "MONDO:0011223", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 4", "equivalent_identifiers": ["MONDO:0011223", "DOID:0060196", "OMIM:602433", "orphanet:357043", "UMLS:C1865409", "MESH:C566550", "SNOMEDCT:784341001", "medgen:355983"], "information_content": 100.0}
{"id": "MONDO:0018996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2", "equivalent_identifiers": ["MONDO:0018996", "DOID:0050755", "OMIM:606002", "orphanet:64753", "UMLS:C1853761", "MESH:C537308", "NCIT:C165500", "SNOMEDCT:725408001", "medgen:340052"], "information_content": 100.0}
{"id": "NCBIGene:26996", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR160", "equivalent_identifiers": ["NCBIGene:26996", "ENSEMBL:ENSG00000173890", "HGNC:23693", "UMLS:C1428197", "UniProtKB:Q9UJ42", "PR:Q9UJ42", "ENSEMBL:ENSP00000348161", "ENSEMBL:ENSP00000348161.5", "UMLS:C2975123", "MESH:C555417"], "information_content": 100.0}
{"id": "UniProtKB:P13797-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plastin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P13797-1", "PR:P13797-1", "ENSEMBL:ENSP00000348163", "ENSEMBL:ENSP00000348163.3", "ENSEMBL:ENSP00000445339", "ENSEMBL:ENSP00000445339.2"], "information_content": 100.0}
{"id": "NCBIGene:2961", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GTF2E2", "equivalent_identifiers": ["NCBIGene:2961", "ENSEMBL:ENSG00000197265", "HGNC:4651", "OMIM:189964", "UMLS:C1333720", "UniProtKB:P29084", "PR:P29084", "ENSEMBL:ENSP00000348168", "ENSEMBL:ENSP00000348168.4", "UMLS:C0378730", "MESH:C000730680"], "information_content": 100.0}
{"id": "MONDO:0013675", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 2", "equivalent_identifiers": ["MONDO:0013675", "DOID:0080134", "OMIM:614299", "orphanet:401874", "UMLS:C3280378", "SNOMEDCT:1208486005", "medgen:482008"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFZ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuroligin-4, Y-linked isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFZ3-1", "PR:Q8NFZ3-1", "ENSEMBL:ENSP00000342535", "ENSEMBL:ENSP00000342535.5", "ENSEMBL:ENSP00000348169", "ENSEMBL:ENSP00000348169.2"], "information_content": 100.0}
{"id": "UniProtKB:P00738-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "haptoglobin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P00738-1", "PR:P00738-1", "ENSEMBL:ENSP00000348170", "ENSEMBL:ENSP00000348170.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3B1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PRELI domain containing protein 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3B1-1", "PR:Q9Y3B1-1", "ENSEMBL:ENSP00000348206", "ENSEMBL:ENSP00000348206.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96AG3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial outer membrane protein SLC25A46 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AG3-1", "PR:Q96AG3-1", "ENSEMBL:ENSP00000348211", "ENSEMBL:ENSP00000348211.3"], "information_content": 100.0}
{"id": "MONDO:0005605", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transitional cell papilloma", "equivalent_identifiers": ["MONDO:0005605", "DOID:2670", "EFO:0006497", "UMLS:C0334266", "NCIT:C4115", "SNOMEDCT:44342003", "medgen:137734"], "information_content": 83.1}
{"id": "UniProtKB:Q5TCZ1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH3 and PX domain-containing protein 2A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5TCZ1-3", "PR:Q5TCZ1-3", "ENSEMBL:ENSP00000348215", "ENSEMBL:ENSP00000348215.2"], "information_content": 100.0}
{"id": "MONDO:0002555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trigeminal schwannoma", "equivalent_identifiers": ["MONDO:0002555", "DOID:3202", "UMLS:C0349582", "NCIT:C4655", "SNOMEDCT:277185000", "medgen:83890"], "information_content": 100.0}
{"id": "UniProtKB:Q9C037-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM4 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q9C037-1", "PR:Q9C037-1", "ENSEMBL:ENSP00000348216", "ENSEMBL:ENSP00000348216.2"], "information_content": 100.0}
{"id": "NCBIGene:6898", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAT", "equivalent_identifiers": ["NCBIGene:6898", "ENSEMBL:ENSG00000198650", "HGNC:11573", "OMIM:613018", "UMLS:C1420590", "UniProtKB:A0A140VKB7", "UniProtKB:P17735", "PR:P17735", "ENSEMBL:ENSP00000348234", "ENSEMBL:ENSP00000348234.4", "UMLS:C0041487", "UMLS:C5444016", "MESH:D014444"], "information_content": 92.8}
{"id": "UniProtKB:Q9UEW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "STE20/SPS1-related proline-alanine-rich protein kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UEW8-1", "PR:Q9UEW8-1", "ENSEMBL:ENSP00000348278", "ENSEMBL:ENSP00000348278.4"], "information_content": 100.0}
{"id": "MONDO:0000902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agenesis of the corpus callosum with peripheral neuropathy", "equivalent_identifiers": ["MONDO:0000902", "DOID:0090003", "OMIM:218000", "orphanet:1496", "UMLS:C0795950", "MESH:C536446", "SNOMEDCT:702439002", "medgen:162893", "ICD10:G60.0"], "information_content": 100.0}
{"id": "UniProtKB:O60858-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM13 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O60858-3", "PR:O60858-3", "ENSEMBL:ENSP00000348299", "ENSEMBL:ENSP00000348299.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY30-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein BTG4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY30-1", "PR:Q9NY30-1", "ENSEMBL:ENSP00000348300", "ENSEMBL:ENSP00000348300.2"], "information_content": 100.0}
{"id": "UniProtKB:O75900-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "matrix metalloproteinase-23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75900-1", "PR:O75900-1", "ENSEMBL:ENSP00000348308", "ENSEMBL:ENSP00000348308.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9C093-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sperm flagellar protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C093-1", "PR:Q9C093-1", "ENSEMBL:ENSP00000348314", "ENSEMBL:ENSP00000348314.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UK76-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "jupiter microtubule associated homolog 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UK76-2", "PR:Q9UK76-2", "ENSEMBL:ENSP00000348316", "ENSEMBL:ENSP00000348316.4"], "information_content": 100.0}
{"id": "UniProtKB:B2RTY4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-IXa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:B2RTY4-1", "PR:B2RTY4-1", "ENSEMBL:ENSP00000348349", "ENSEMBL:ENSP00000348349.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6UW02-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 20A1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UW02-1", "PR:Q6UW02-1", "ENSEMBL:ENSP00000348380", "ENSEMBL:ENSP00000348380.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UEY8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-adducin isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UEY8-1", "PR:Q9UEY8-1", "ENSEMBL:ENSP00000348381", "ENSEMBL:ENSP00000348381.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZC6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XXVII) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZC6-1", "PR:Q8IZC6-1", "ENSEMBL:ENSP00000348385", "ENSEMBL:ENSP00000348385.3"], "information_content": 100.0}
{"id": "MONDO:0010484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, X-linked 6", "equivalent_identifiers": ["MONDO:0010484", "DOID:0111740", "OMIM:300914", "UMLS:C3806737", "medgen:813067"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDH3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable aminopeptidase NPEPL1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDH3-1", "PR:Q8NDH3-1", "ENSEMBL:ENSP00000348395", "ENSEMBL:ENSP00000348395.6"], "information_content": 100.0}
{"id": "NCBIGene:7082", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TJP1", "equivalent_identifiers": ["NCBIGene:7082", "ENSEMBL:ENSG00000104067", "HGNC:11827", "OMIM:601009", "UMLS:C1420744", "UniProtKB:A0A087X0K9", "ENSEMBL:ENSP00000483470", "ENSEMBL:ENSP00000483470.2", "UniProtKB:A0A0G2JNH2", "ENSEMBL:ENSP00000481375", "ENSEMBL:ENSP00000481375.1", "UniProtKB:A0A7I2V5U5", "ENSEMBL:ENSP00000504775", "ENSEMBL:ENSP00000504775.1", "UniProtKB:A9CQZ8", "UniProtKB:B4DZK4", "UniProtKB:G3V1L9", "ENSEMBL:ENSP00000348416", "ENSEMBL:ENSP00000348416.7", "UniProtKB:G5E9E7", "ENSEMBL:ENSP00000382890", "ENSEMBL:ENSP00000382890.2", "ENSEMBL:ENSP00000482697", "ENSEMBL:ENSP00000482697.1", "UniProtKB:Q07157", "PR:Q07157", "ENSEMBL:ENSP00000484535", "ENSEMBL:ENSP00000484535.2", "UMLS:C1451683", "MESH:C569042"]}
{"id": "UniProtKB:P15621-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 44 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P15621-1", "PR:P15621-1", "ENSEMBL:ENSP00000348419", "ENSEMBL:ENSP00000348419.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULC5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "long-chain-fatty-acid--CoA ligase 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULC5-3", "PR:Q9ULC5-3", "ENSEMBL:ENSP00000348429", "ENSEMBL:ENSP00000348429.1"], "information_content": 100.0}
{"id": "UniProtKB:O00232-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome non-ATPase regulatory subunit 12 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00232-1", "PR:O00232-1", "ENSEMBL:ENSP00000348442", "ENSEMBL:ENSP00000348442.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ90-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anoctamin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ90-2", "PR:Q9NQ90-2", "ENSEMBL:ENSP00000348453", "ENSEMBL:ENSP00000348453.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2Y5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UV radiation resistance-associated gene protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2Y5-1", "PR:Q9P2Y5-1", "ENSEMBL:ENSP00000348455", "ENSEMBL:ENSP00000348455.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDX5-1", "PR:Q8TDX5-1", "ENSEMBL:ENSP00000348459", "ENSEMBL:ENSP00000348459.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXF0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal PAS domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXF0-1", "PR:Q8IXF0-1", "ENSEMBL:ENSP00000348460", "ENSEMBL:ENSP00000348460.4"], "information_content": 100.0}
{"id": "MONDO:0010293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia and immune deficiency", "equivalent_identifiers": ["MONDO:0010293", "DOID:0081077", "OMIM.PS:300291", "orphanet:98813", "UMLS:C1846006", "MESH:C536181", "NCIT:C118844", "SNOMEDCT:703525006", "medgen:375786"], "information_content": 92.8}
{"id": "UniProtKB:P63000-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related C3 botulinum toxin substrate 1 isoform B (human)", "equivalent_identifiers": ["UniProtKB:P63000-2", "PR:P63000-2", "ENSEMBL:ENSP00000348461", "ENSEMBL:ENSP00000348461.4"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z7A4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PX domain-containing protein kinase-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z7A4-1", "PR:Q7Z7A4-1", "ENSEMBL:ENSP00000348472", "ENSEMBL:ENSP00000348472.2"], "information_content": 100.0}
{"id": "NCBIGene:64319", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBRS", "equivalent_identifiers": ["NCBIGene:64319", "ENSEMBL:ENSG00000156860", "HGNC:20442", "OMIM:608601", "UMLS:C1426940", "UniProtKB:B3KTZ7", "UniProtKB:J3KNZ9", "ENSEMBL:ENSP00000348489", "ENSEMBL:ENSP00000348489.5", "UniProtKB:Q9HAH7", "PR:Q9HAH7"]}
{"id": "NCBIGene:140732", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUN5", "equivalent_identifiers": ["NCBIGene:140732", "ENSEMBL:ENSG00000167098", "HGNC:16252", "OMIM:613942", "UMLS:C1424125", "UniProtKB:A0A384MDU5", "UMLS:C1311479", "MESH:C477147", "UniProtKB:A9Z1W8", "ENSEMBL:ENSP00000364673", "ENSEMBL:ENSP00000364673.3", "UniProtKB:Q8TC36", "PR:Q8TC36", "ENSEMBL:ENSP00000348496", "ENSEMBL:ENSP00000348496.3"], "information_content": 100.0}
{"id": "UniProtKB:Q12789-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription factor 3C polypeptide 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12789-2", "PR:Q12789-2", "ENSEMBL:ENSP00000348510", "ENSEMBL:ENSP00000348510.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0Z9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 38 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0Z9-1", "PR:Q9H0Z9-1", "ENSEMBL:ENSP00000348538", "ENSEMBL:ENSP00000348538.5"], "information_content": 100.0}
{"id": "UniProtKB:Q13042-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell division cycle protein 16 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13042-1", "PR:Q13042-1", "ENSEMBL:ENSP00000348554", "ENSEMBL:ENSP00000348554.3", "ENSEMBL:ENSP00000353549", "ENSEMBL:ENSP00000353549.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWY9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "codanin-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWY9-2", "PR:Q8IWY9-2", "ENSEMBL:ENSP00000348564", "ENSEMBL:ENSP00000348564.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZZ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-like modifier-activating enzyme 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZZ9-1", "PR:Q9GZZ9-1", "ENSEMBL:ENSP00000348565", "ENSEMBL:ENSP00000348565.4"], "information_content": 100.0}
{"id": "UniProtKB:Q99996-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-kinase anchor protein 9 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99996-2", "PR:Q99996-2", "ENSEMBL:ENSP00000348573", "ENSEMBL:ENSP00000348573.3"], "information_content": 100.0}
{"id": "UniProtKB:P49418-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amphiphysin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49418-1", "PR:P49418-1", "ENSEMBL:ENSP00000348602", "ENSEMBL:ENSP00000348602.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYM8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RanBP-type and C3HC4-type zinc finger-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYM8-1", "PR:Q9BYM8-1", "ENSEMBL:ENSP00000348632", "ENSEMBL:ENSP00000348632.6"], "information_content": 100.0}
{"id": "UniProtKB:Q86YT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "junctional adhesion molecule-like isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YT9-1", "PR:Q86YT9-1", "ENSEMBL:ENSP00000348635", "ENSEMBL:ENSP00000348635.5"], "information_content": 95.4}
{"id": "NCBIGene:389208", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMPRSS11F", "equivalent_identifiers": ["NCBIGene:389208", "ENSEMBL:ENSG00000198092", "HGNC:29994", "UMLS:C1540028", "UniProtKB:Q6ZWK6", "PR:Q6ZWK6", "ENSEMBL:ENSP00000348639", "ENSEMBL:ENSP00000348639.2", "UMLS:C4742070", "MESH:C000629131"], "information_content": 100.0}
{"id": "UniProtKB:A1KZ92-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable oxidoreductase PXDNL isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A1KZ92-1", "PR:A1KZ92-1", "ENSEMBL:ENSP00000348645", "ENSEMBL:ENSP00000348645.4"], "information_content": 100.0}
{"id": "NCBIGene:11226", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GALNT6", "equivalent_identifiers": ["NCBIGene:11226", "ENSEMBL:ENSG00000139629", "HGNC:4128", "OMIM:605148", "UMLS:C1414956", "UniProtKB:Q8NCL4", "PR:Q8NCL4", "ENSEMBL:ENSP00000348668", "ENSEMBL:ENSP00000348668.2", "ENSEMBL:ENSP00000444171", "ENSEMBL:ENSP00000444171.1", "UMLS:C3179405", "MESH:C000727987"], "information_content": 92.8}
{"id": "MONDO:0018746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucous membrane pemphigoid", "equivalent_identifiers": ["MONDO:0018746", "DOID:11656", "orphanet:46486", "EFO:1000680", "UMLS:C0030804", "UMLS:C0157721", "MESH:D010390", "MEDDRA:10004294", "MEDDRA:10057052", "MEDDRA:10067776", "MEDDRA:10087064", "NCIT:C34907", "SNOMEDCT:34250006", "SNOMEDCT:76092003", "medgen:10619", "icd11.foundation:1456138933", "ICD10:L12.1", "ICD9:694.6", "ICD9:694.61"], "information_content": 95.4}
{"id": "NCBIGene:26019", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UPF2", "equivalent_identifiers": ["NCBIGene:26019", "ENSEMBL:ENSG00000151461", "HGNC:17854", "OMIM:605529", "UMLS:C1425133", "UniProtKB:Q9HAU5", "PR:Q9HAU5", "ENSEMBL:ENSP00000348708", "ENSEMBL:ENSP00000348708.2", "ENSEMBL:ENSP00000350221", "ENSEMBL:ENSP00000350221.5", "ENSEMBL:ENSP00000380244", "ENSEMBL:ENSP00000380244.2", "UMLS:C1172268", "MESH:C468286"], "information_content": 90.9}
{"id": "UniProtKB:O15033-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptosis-resistant E3 ubiquitin protein ligase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15033-1", "PR:O15033-1", "ENSEMBL:ENSP00000348714", "ENSEMBL:ENSP00000348714.4", "ENSEMBL:ENSP00000505623", "ENSEMBL:ENSP00000505623.1"], "information_content": 100.0}
{"id": "NCBIGene:80228", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ORAI2", "equivalent_identifiers": ["NCBIGene:80228", "ENSEMBL:ENSG00000160991", "HGNC:21667", "OMIM:610929", "UMLS:C1823406", "UniProtKB:B4DUB4", "UMLS:C1743779", "MESH:C514506", "UniProtKB:Q96SN7", "PR:Q96SN7", "ENSEMBL:ENSP00000348752", "ENSEMBL:ENSP00000348752.2", "ENSEMBL:ENSP00000385489", "ENSEMBL:ENSP00000385489.3", "ENSEMBL:ENSP00000417928", "ENSEMBL:ENSP00000417928.1", "ENSEMBL:ENSP00000418140", "ENSEMBL:ENSP00000418140.1", "ENSEMBL:ENSP00000418464", "ENSEMBL:ENSP00000418464.2", "ENSEMBL:ENSP00000420178", "ENSEMBL:ENSP00000420178.2", "ENSEMBL:ENSP00000478113", "ENSEMBL:ENSP00000478113.1"], "information_content": 95.4}
{"id": "MONDO:0006515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute pancreatitis", "equivalent_identifiers": ["MONDO:0006515", "DOID:2913", "EFO:1000652", "UMLS:C0001339", "MEDDRA:10000971", "MEDDRA:10033647", "NCIT:C95437", "SNOMEDCT:197456007", "SNOMEDCT:7881005", "medgen:7872", "icd11.foundation:698285441", "ICD10:K85", "ICD9:577.0", "HP:0001735"], "information_content": 75.5}
{"id": "UniProtKB:Q7Z698-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sprouty-related, EVH1 domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z698-1", "PR:Q7Z698-1", "ENSEMBL:ENSP00000348753", "ENSEMBL:ENSP00000348753.4"], "information_content": 100.0}
{"id": "UniProtKB:A5D8V7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "outer dynein arm-docking complex subunit 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A5D8V7-1", "PR:A5D8V7-1", "ENSEMBL:ENSP00000348757", "ENSEMBL:ENSP00000348757.3"], "information_content": 100.0}
{"id": "MONDO:0002070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ventricular septal defect", "equivalent_identifiers": ["MONDO:0002070", "DOID:1657", "OMIM.PS:614429", "UMLS:C0018818", "MESH:D006345", "MEDDRA:10010671", "MEDDRA:10012119", "MEDDRA:10040100", "MEDDRA:10047298", "MEDDRA:10047300", "MEDDRA:10047720", "MEDDRA:10089779", "NCIT:C84506", "SNOMEDCT:253549006", "SNOMEDCT:30288003", "SNOMEDCT:768552007", "medgen:42366", "icd11.foundation:668140715", "ICD10:Q21.0", "ICD9:745.4", "HP:0001629"], "information_content": 79.6}
{"id": "NCBIGene:10425", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARIH2", "equivalent_identifiers": ["NCBIGene:10425", "ENSEMBL:ENSG00000177479", "HGNC:690", "OMIM:605615", "UMLS:C1412534", "UniProtKB:O95376", "PR:O95376", "ENSEMBL:ENSP00000348769", "ENSEMBL:ENSP00000348769.4", "ENSEMBL:ENSP00000403222", "ENSEMBL:ENSP00000403222.1", "UMLS:C1666216", "MESH:C506696", "UniProtKB:Q53ET9", "UniProtKB:Q6IBL8"], "information_content": 92.8}
{"id": "UniProtKB:O00562-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-associated phosphatidylinositol transfer protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00562-1", "PR:O00562-1", "ENSEMBL:ENSP00000348772", "ENSEMBL:ENSP00000348772.3", "ENSEMBL:ENSP00000437286", "ENSEMBL:ENSP00000437286.1"], "information_content": 100.0}
{"id": "UniProtKB:O15254-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal acyl-coenzyme A oxidase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15254-1", "PR:O15254-1", "ENSEMBL:ENSP00000348775", "ENSEMBL:ENSP00000348775.4", "ENSEMBL:ENSP00000421625", "ENSEMBL:ENSP00000421625.1"], "information_content": 100.0}
{"id": "UniProtKB:P52179-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myomesin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P52179-1", "PR:P52179-1", "ENSEMBL:ENSP00000348821", "ENSEMBL:ENSP00000348821.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96DR7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 26 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DR7-1", "PR:Q96DR7-1", "ENSEMBL:ENSP00000348828", "ENSEMBL:ENSP00000348828.4", "ENSEMBL:ENSP00000423418", "ENSEMBL:ENSP00000423418.1", "ENSEMBL:ENSP00000481927", "ENSEMBL:ENSP00000481927.1", "ENSEMBL:ENSP00000484367", "ENSEMBL:ENSP00000484367.1"], "information_content": 100.0}
{"id": "UniProtKB:O00762-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00762-1", "PR:O00762-1", "ENSEMBL:ENSP00000348838", "ENSEMBL:ENSP00000348838.4"], "information_content": 100.0}
{"id": "MONDO:0012412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "complement component 7 deficiency", "equivalent_identifiers": ["MONDO:0012412", "DOID:0060300", "OMIM:610102", "UMLS:C1864694", "MESH:C566443", "medgen:355270"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMW3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "echinoderm microtubule-associated protein-like 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMW3-1", "PR:Q6ZMW3-1", "ENSEMBL:ENSP00000348842", "ENSEMBL:ENSP00000348842.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y484-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat domain phosphoinositide-interacting protein 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y484-3", "PR:Q9Y484-3", "ENSEMBL:ENSP00000348848", "ENSEMBL:ENSP00000348848.3", "ENSEMBL:ENSP00000365546", "ENSEMBL:ENSP00000365546.2", "ENSEMBL:ENSP00000518137", "ENSEMBL:ENSP00000518137.1", "ENSEMBL:ENSP00000518141", "ENSEMBL:ENSP00000518141.1"], "information_content": 100.0}
{"id": "NCBIGene:6231", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS26", "equivalent_identifiers": ["NCBIGene:6231", "ENSEMBL:ENSG00000197728", "HGNC:10414", "OMIM:603701", "UMLS:C1419728", "UniProtKB:P62854", "PR:P62854", "ENSEMBL:ENSP00000348849", "ENSEMBL:ENSP00000348849.5", "ENSEMBL:ENSP00000450339", "ENSEMBL:ENSP00000450339.1", "ENSEMBL:ENSP00000496643", "ENSEMBL:ENSP00000496643.1", "UMLS:C1454142", "UMLS:C5444987", "MESH:C489203"], "information_content": 92.8}
{"id": "UniProtKB:Q9UJZ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stomatin-like protein 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJZ1-1", "PR:Q9UJZ1-1", "ENSEMBL:ENSP00000348886", "ENSEMBL:ENSP00000348886.5"], "information_content": 100.0}
{"id": "NCBIGene:5284", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIGR", "equivalent_identifiers": ["NCBIGene:5284", "ENSEMBL:ENSG00000162896", "HGNC:8968", "OMIM:173880", "UMLS:C1418569", "UniProtKB:P01833", "PR:P01833", "ENSEMBL:ENSP00000348888", "ENSEMBL:ENSP00000348888.4", "UMLS:C5891094", "MESH:C000730608"], "information_content": 86.3}
{"id": "MONDO:0015045", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alpha-heavy chain disease", "equivalent_identifiers": ["MONDO:0015045", "DOID:0060126", "orphanet:100025", "EFO:1001798", "UMLS:C0021071", "UMLS:C5209276", "MESH:D007161", "MEDDRA:10089864", "MEDDRA:10089868", "NCIT:C3132", "SNOMEDCT:109982002", "SNOMEDCT:109985000", "SNOMEDCT:123313007", "SNOMEDCT:27461004", "medgen:7039", "icd11.foundation:680227490", "ICD10:C88.3", "HP:0020194"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZ11-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 33 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZ11-1", "PR:Q9BZ11-1", "ENSEMBL:ENSP00000348912", "ENSEMBL:ENSP00000348912.3"], "information_content": 100.0}
{"id": "UniProtKB:O15540-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fatty acid-binding protein, brain isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15540-2", "PR:O15540-2", "ENSEMBL:ENSP00000348931", "ENSEMBL:ENSP00000348931.4"], "information_content": 100.0}
{"id": "UniProtKB:Q86WR0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 25 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WR0-1", "PR:Q86WR0-1", "ENSEMBL:ENSP00000348933", "ENSEMBL:ENSP00000348933.4"], "information_content": 100.0}
{"id": "UniProtKB:Q2MKA7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "R-spondin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2MKA7-1", "PR:Q2MKA7-1", "ENSEMBL:ENSP00000348944", "ENSEMBL:ENSP00000348944.2", "ENSEMBL:ENSP00000383846", "ENSEMBL:ENSP00000383846.1"], "information_content": 100.0}
{"id": "NCBIGene:10905", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAN1A2", "equivalent_identifiers": ["NCBIGene:10905", "ENSEMBL:ENSG00000198162", "HGNC:6822", "OMIM:604345", "UMLS:C1416993", "UniProtKB:O60476", "PR:O60476", "ENSEMBL:ENSP00000348959", "ENSEMBL:ENSP00000348959.3"], "information_content": 95.4}
{"id": "NCBIGene:1778", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYNC1H1", "equivalent_identifiers": ["NCBIGene:1778", "ENSEMBL:ENSG00000197102", "HGNC:2961", "OMIM:600112", "UMLS:C1825005", "UniProtKB:Q14204", "PR:Q14204", "ENSEMBL:ENSP00000348965", "ENSEMBL:ENSP00000348965.4", "UMLS:C1722731", "MESH:C511240"], "information_content": 79.9}
{"id": "NCBIGene:259239", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WFDC11", "equivalent_identifiers": ["NCBIGene:259239", "ENSEMBL:ENSG00000180083", "HGNC:20478", "UMLS:C1426962", "UniProtKB:Q8NEX6", "PR:Q8NEX6", "ENSEMBL:ENSP00000318753", "ENSEMBL:ENSP00000318753.3", "ENSEMBL:ENSP00000348968", "ENSEMBL:ENSP00000348968.2", "ENSEMBL:ENSP00000479579", "ENSEMBL:ENSP00000479579.1"], "information_content": 100.0}
{"id": "UniProtKB:O75095-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multiple epidermal growth factor-like domains protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75095-1", "PR:O75095-1", "ENSEMBL:ENSP00000348982", "ENSEMBL:ENSP00000348982.4"], "information_content": 100.0}
{"id": "UniProtKB:P18583-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SON isoform F (human)", "equivalent_identifiers": ["UniProtKB:P18583-1", "PR:P18583-1", "ENSEMBL:ENSP00000348984", "ENSEMBL:ENSP00000348984.4"], "information_content": 100.0}
{"id": "UniProtKB:P43115-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostaglandin E2 receptor EP3 subtype isoform hEP3E (human)", "equivalent_identifiers": ["UniProtKB:P43115-5", "PR:P43115-5", "ENSEMBL:ENSP00000349003", "ENSEMBL:ENSP00000349003.4"], "information_content": 100.0}
{"id": "UniProtKB:O75381-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal membrane protein PEX14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75381-1", "PR:O75381-1", "ENSEMBL:ENSP00000349016", "ENSEMBL:ENSP00000349016.4"], "information_content": 100.0}
{"id": "NCBIGene:23237", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARC", "equivalent_identifiers": ["NCBIGene:23237", "ENSEMBL:ENSG00000198576", "HGNC:648", "OMIM:612461", "UMLS:C1412501", "UniProtKB:Q7LC44", "PR:Q7LC44", "ENSEMBL:ENSP00000349022", "ENSEMBL:ENSP00000349022.2", "UMLS:C1672513"], "information_content": 95.4}
{"id": "NCBIGene:441478", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NRARP", "equivalent_identifiers": ["NCBIGene:441478", "ENSEMBL:ENSG00000198435", "HGNC:33843", "OMIM:619987", "UMLS:C2678527", "UniProtKB:Q7Z6K4", "PR:Q7Z6K4", "ENSEMBL:ENSP00000349041", "ENSEMBL:ENSP00000349041.2", "UMLS:C3849844", "MESH:C000588990"], "information_content": 95.4}
{"id": "UniProtKB:Q8WVF1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein OSCP1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVF1-1", "PR:Q8WVF1-1", "ENSEMBL:ENSP00000349052", "ENSEMBL:ENSP00000349052.5"], "information_content": 100.0}
{"id": "UniProtKB:P14324-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "farnesyl pyrophosphate synthase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P14324-1", "PR:P14324-1", "ENSEMBL:ENSP00000349078", "ENSEMBL:ENSP00000349078.6", "ENSEMBL:ENSP00000357340", "ENSEMBL:ENSP00000357340.4"], "information_content": 100.0}
{"id": "NCBIGene:4100", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEA1", "equivalent_identifiers": ["NCBIGene:4100", "ENSEMBL:ENSG00000198681", "HGNC:6796", "OMIM:300016", "UMLS:C1416970", "UniProtKB:P43355", "PR:P43355", "ENSEMBL:ENSP00000349085", "ENSEMBL:ENSP00000349085.5", "UMLS:C1456426", "MESH:C072011"], "information_content": 100.0}
{"id": "UniProtKB:Q4ZIN3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membralin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4ZIN3-1", "PR:Q4ZIN3-1", "ENSEMBL:ENSP00000349087", "ENSEMBL:ENSP00000349087.2"], "information_content": 100.0}
{"id": "NCBIGene:151011", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEPTIN10", "equivalent_identifiers": ["NCBIGene:151011", "ENSEMBL:ENSG00000186522", "HGNC:14349", "OMIM:611737", "UMLS:C1422584", "UniProtKB:B5ME97", "ENSEMBL:ENSP00000349116", "ENSEMBL:ENSP00000349116.4", "UMLS:C1258649", "MESH:C474375", "UniProtKB:B7Z277", "UniProtKB:B7Z371", "UniProtKB:E7EW69", "ENSEMBL:ENSP00000396728", "ENSEMBL:ENSP00000396728.1", "UniProtKB:Q59H84", "UniProtKB:Q9H9P7", "UniProtKB:Q9P0V9", "PR:Q9P0V9"]}
{"id": "MONDO:0008076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic neuralgia", "equivalent_identifiers": ["MONDO:0008076", "DOID:10383", "OMIM:162100", "UMLS:C1834304", "SNOMEDCT:26609002", "medgen:320318", "ICD10:G54.5", "ICD9:353.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY27-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 4 regulatory subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY27-1", "PR:Q9NY27-1", "ENSEMBL:ENSP00000349124", "ENSEMBL:ENSP00000349124.5"], "information_content": 100.0}
{"id": "MONDO:0002235", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eyelid neoplasm", "equivalent_identifiers": ["MONDO:0002235", "DOID:2173", "EFO:1000934", "UMLS:C0015424", "MESH:D005142", "MEDDRA:10050497", "MEDDRA:10062423", "NCIT:C3031", "SNOMEDCT:278697001", "medgen:41939"], "information_content": 76.7}
{"id": "UniProtKB:Q9BXY4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "R-spondin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXY4-1", "PR:Q9BXY4-1", "ENSEMBL:ENSP00000349131", "ENSEMBL:ENSP00000349131.4"], "information_content": 100.0}
{"id": "UniProtKB:P36542-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP synthase subunit gamma, mitochondrial isoform Liver (human)", "equivalent_identifiers": ["UniProtKB:P36542-1", "PR:P36542-1", "ENSEMBL:ENSP00000349142", "ENSEMBL:ENSP00000349142.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8WVV5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "butyrophilin subfamily 2 member A2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVV5-1", "PR:Q8WVV5-1", "ENSEMBL:ENSP00000349143", "ENSEMBL:ENSP00000349143.4", "ENSEMBL:ENSP00000399308", "ENSEMBL:ENSP00000399308.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRU3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metal transporter CNNM1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRU3-1", "PR:Q9NRU3-1", "ENSEMBL:ENSP00000349147", "ENSEMBL:ENSP00000349147.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUQ4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase SIAH1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUQ4-2", "PR:Q8IUQ4-2", "ENSEMBL:ENSP00000349156", "ENSEMBL:ENSP00000349156.3"], "information_content": 100.0}
{"id": "NCBIGene:388536", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF790", "equivalent_identifiers": ["NCBIGene:388536", "ENSEMBL:ENSG00000197863", "HGNC:33114", "UMLS:C1824063", "UniProtKB:B4DMI3", "UniProtKB:Q6PG37", "PR:Q6PG37", "ENSEMBL:ENSP00000349161", "ENSEMBL:ENSP00000349161.3", "ENSEMBL:ENSP00000478852", "ENSEMBL:ENSP00000478852.1", "ENSEMBL:ENSP00000480764", "ENSEMBL:ENSP00000480764.1", "ENSEMBL:ENSP00000480834", "ENSEMBL:ENSP00000480834.1"], "information_content": 100.0}
{"id": "NCBIGene:3187", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HNRNPH1", "equivalent_identifiers": ["NCBIGene:3187", "ENSEMBL:ENSG00000169045", "HGNC:5041", "OMIM:601035", "UMLS:C1415642", "UniProtKB:A0A384MEJ3", "UniProtKB:A0A9L9PY23", "ENSEMBL:ENSP00000516644", "ENSEMBL:ENSP00000516644.1", "UniProtKB:A0AAG2UWX3", "ENSEMBL:ENSP00000518312", "ENSEMBL:ENSP00000518312.1", "UniProtKB:E9PCY7", "ENSEMBL:ENSP00000426275", "ENSEMBL:ENSP00000426275.1", "ENSEMBL:ENSP00000518311", "ENSEMBL:ENSP00000518311.1", "UniProtKB:G8JLB6", "ENSEMBL:ENSP00000327539", "ENSEMBL:ENSP00000327539.6", "UniProtKB:H0YBD7", "ENSEMBL:ENSP00000429270", "ENSEMBL:ENSP00000429270.2", "ENSEMBL:ENSP00000518322", "ENSEMBL:ENSP00000518322.1", "UniProtKB:P31943", "PR:P31943", "ENSEMBL:ENSP00000349168", "ENSEMBL:ENSP00000349168.5", "ENSEMBL:ENSP00000377082", "ENSEMBL:ENSP00000377082.4", "ENSEMBL:ENSP00000397797", "ENSEMBL:ENSP00000397797.2", "ENSEMBL:ENSP00000421695", "ENSEMBL:ENSP00000421695.2", "ENSEMBL:ENSP00000424087", "ENSEMBL:ENSP00000424087.2", "ENSEMBL:ENSP00000425343", "ENSEMBL:ENSP00000425343.2", "ENSEMBL:ENSP00000426518", "ENSEMBL:ENSP00000426518.2", "ENSEMBL:ENSP00000429661", "ENSEMBL:ENSP00000429661.2", "ENSEMBL:ENSP00000492076", "ENSEMBL:ENSP00000492076.2", "ENSEMBL:ENSP00000518308", "ENSEMBL:ENSP00000518308.1", "ENSEMBL:ENSP00000518309", "ENSEMBL:ENSP00000518309.1", "ENSEMBL:ENSP00000518316", "ENSEMBL:ENSP00000518316.1", "ENSEMBL:ENSP00000518317", "ENSEMBL:ENSP00000518317.1", "ENSEMBL:ENSP00000518318", "ENSEMBL:ENSP00000518318.1", "ENSEMBL:ENSP00000518319", "ENSEMBL:ENSP00000518319.1", "ENSEMBL:ENSP00000518321", "ENSEMBL:ENSP00000518321.1", "UMLS:C5828777", "MESH:C000727037"], "information_content": 89.4}
{"id": "UniProtKB:Q96D96-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated hydrogen channel 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96D96-1", "PR:Q96D96-1", "ENSEMBL:ENSP00000242607", "ENSEMBL:ENSP00000242607.8", "ENSEMBL:ENSP00000349181", "ENSEMBL:ENSP00000349181.5", "ENSEMBL:ENSP00000479812", "ENSEMBL:ENSP00000479812.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUF7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein crumbs homolog 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUF7-2", "PR:Q9BUF7-2", "ENSEMBL:ENSP00000349204", "ENSEMBL:ENSP00000349204.2"], "information_content": 100.0}
{"id": "NCBIGene:30849", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIK3R4", "equivalent_identifiers": ["NCBIGene:30849", "ENSEMBL:ENSG00000196455", "HGNC:8982", "OMIM:602610", "UMLS:C1418578", "UniProtKB:Q99570", "PR:Q99570", "ENSEMBL:ENSP00000349205", "ENSEMBL:ENSP00000349205.3", "UMLS:C2713778", "MESH:C546851"], "information_content": 89.4}
{"id": "UniProtKB:Q8TC59-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "piwi-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TC59-1", "PR:Q8TC59-1", "ENSEMBL:ENSP00000349208", "ENSEMBL:ENSP00000349208.6", "ENSEMBL:ENSP00000406956", "ENSEMBL:ENSP00000406956.2"], "information_content": 100.0}
{"id": "UniProtKB:A6NC98-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 88B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NC98-1", "PR:A6NC98-1", "ENSEMBL:ENSP00000349238", "ENSEMBL:ENSP00000349238.5"], "information_content": 100.0}
{"id": "UniProtKB:P20701-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin alpha-L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20701-1", "PR:P20701-1", "ENSEMBL:ENSP00000349252", "ENSEMBL:ENSP00000349252.5"], "information_content": 100.0}
{"id": "UniProtKB:Q01082-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spectrin beta chain, non-erythrocytic 1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q01082-1", "PR:Q01082-1", "ENSEMBL:ENSP00000349259", "ENSEMBL:ENSP00000349259.4"], "information_content": 100.0}
{"id": "NCBIGene:3042", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HBM", "equivalent_identifiers": ["NCBIGene:3042", "ENSEMBL:ENSG00000206177", "HGNC:4826", "OMIM:609639", "UMLS:C1825450", "UniProtKB:Q6B0K9", "PR:Q6B0K9", "ENSEMBL:ENSP00000349270", "ENSEMBL:ENSP00000349270.3", "UMLS:C2827572"], "information_content": 100.0}
{"id": "NCBIGene:9858", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R26", "equivalent_identifiers": ["NCBIGene:9858", "ENSEMBL:ENSG00000196422", "HGNC:29089", "OMIM:614056", "UMLS:C1428787", "UniProtKB:Q5T8A7", "PR:Q5T8A7", "ENSEMBL:ENSP00000349274", "ENSEMBL:ENSP00000349274.2", "ENSEMBL:ENSP00000385826", "ENSEMBL:ENSP00000385826.3", "ENSEMBL:ENSP00000473820", "ENSEMBL:ENSP00000473820.1", "ENSEMBL:ENSP00000474794", "ENSEMBL:ENSP00000474794.1", "ENSEMBL:ENSP00000474807", "ENSEMBL:ENSP00000474807.1", "UMLS:C1722934", "MESH:C511445"], "information_content": 100.0}
{"id": "NCBIGene:9823", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARMCX2", "equivalent_identifiers": ["NCBIGene:9823", "ENSEMBL:ENSG00000184867", "HGNC:16869", "OMIM:300363", "UMLS:C1538940", "UniProtKB:A8K5M7", "UniProtKB:Q7L311", "PR:Q7L311", "ENSEMBL:ENSP00000328631", "ENSEMBL:ENSP00000328631.2", "ENSEMBL:ENSP00000331662", "ENSEMBL:ENSP00000331662.5", "ENSEMBL:ENSP00000349281", "ENSEMBL:ENSP00000349281.4"], "information_content": 95.4}
{"id": "UniProtKB:Q8WY64-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase MYLIP isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WY64-1", "PR:Q8WY64-1", "ENSEMBL:ENSP00000349298", "ENSEMBL:ENSP00000349298.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13439-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "golgin subfamily A member 4 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q13439-5", "PR:Q13439-5", "ENSEMBL:ENSP00000349305", "ENSEMBL:ENSP00000349305.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H9Q4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "non-homologous end-joining factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9Q4-1", "PR:Q9H9Q4-1", "ENSEMBL:ENSP00000349313", "ENSEMBL:ENSP00000349313.5", "ENSEMBL:ENSP00000407201", "ENSEMBL:ENSP00000407201.2", "ENSEMBL:ENSP00000513594", "ENSEMBL:ENSP00000513594.1", "ENSEMBL:ENSP00000513605", "ENSEMBL:ENSP00000513605.1", "ENSEMBL:ENSP00000513606", "ENSEMBL:ENSP00000513606.1"], "information_content": 100.0}
{"id": "UniProtKB:P54289-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P54289-2", "PR:P54289-2", "ENSEMBL:ENSP00000349320", "ENSEMBL:ENSP00000349320.3"], "information_content": 100.0}
{"id": "NCBIGene:8794", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFRSF10C", "equivalent_identifiers": ["NCBIGene:8794", "ENSEMBL:ENSG00000173535", "HGNC:11906", "OMIM:603613", "UMLS:C1420803", "UniProtKB:O14798", "PR:O14798", "ENSEMBL:ENSP00000349324", "ENSEMBL:ENSP00000349324.4", "UMLS:C1621918", "MESH:C108661"], "information_content": 90.9}
{"id": "UniProtKB:Q8TD16-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein bicaudal D homolog 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TD16-2", "PR:Q8TD16-2", "ENSEMBL:ENSP00000349351", "ENSEMBL:ENSP00000349351.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8N999-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA ligase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N999-1", "PR:Q8N999-1", "ENSEMBL:ENSP00000349358", "ENSEMBL:ENSP00000349358.3"], "information_content": 100.0}
{"id": "MONDO:0014442", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 14", "equivalent_identifiers": ["MONDO:0014442", "DOID:0110136", "OMIM:615991", "UMLS:C2673874", "MESH:C567141", "medgen:393033"], "information_content": 100.0}
{"id": "NCBIGene:54440", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SASH3", "equivalent_identifiers": ["NCBIGene:54440", "ENSEMBL:ENSG00000122122", "HGNC:15975", "OMIM:300441", "UMLS:C1423878", "UniProtKB:O75995", "PR:O75995", "ENSEMBL:ENSP00000349359", "ENSEMBL:ENSP00000349359.3"], "information_content": 95.4}
{"id": "NCBIGene:246778", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL27", "equivalent_identifiers": ["NCBIGene:246778", "ENSEMBL:ENSG00000197272", "HGNC:19157", "OMIM:608273", "UMLS:C1426048", "UniProtKB:Q8NEV9", "PR:Q8NEV9", "ENSEMBL:ENSP00000349365", "ENSEMBL:ENSP00000349365.1", "UMLS:C2973985", "UMLS:C3890355"], "information_content": 95.4}
{"id": "NCBIGene:5826", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABCD4", "equivalent_identifiers": ["NCBIGene:5826", "ENSEMBL:ENSG00000119688", "HGNC:68", "OMIM:603214", "UMLS:C1412091", "UniProtKB:O14678", "PR:O14678", "ENSEMBL:ENSP00000349396", "ENSEMBL:ENSP00000349396.4", "UMLS:C1308346", "MESH:C489273"], "information_content": 90.9}
{"id": "NCBIGene:139065", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLITRK4", "equivalent_identifiers": ["NCBIGene:139065", "ENSEMBL:ENSG00000179542", "HGNC:23502", "OMIM:300562", "UMLS:C1428106", "UniProtKB:Q8IW52", "PR:Q8IW52", "ENSEMBL:ENSP00000336627", "ENSEMBL:ENSP00000336627.4", "ENSEMBL:ENSP00000349400", "ENSEMBL:ENSP00000349400.1", "ENSEMBL:ENSP00000469205", "ENSEMBL:ENSP00000469205.1", "UMLS:C3177473", "MESH:C559208"], "information_content": 90.9}
{"id": "UniProtKB:P26599-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypyrimidine tract-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P26599-3", "PR:P26599-3", "ENSEMBL:ENSP00000349428", "ENSEMBL:ENSP00000349428.4"], "information_content": 100.0}
{"id": "NCBIGene:85236", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BC12", "equivalent_identifiers": ["NCBIGene:85236", "ENSEMBL:ENSG00000197903", "HGNC:13954", "OMIM:615045", "UMLS:C5202793", "UniProtKB:O60814", "PR:O60814", "ENSEMBL:ENSP00000349430", "ENSEMBL:ENSP00000349430.2", "ENSEMBL:ENSP00000520531", "ENSEMBL:ENSP00000520531.1", "UMLS:C5202792"], "information_content": 82.1}
{"id": "UniProtKB:Q13444-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13444-1", "PR:Q13444-1", "ENSEMBL:ENSP00000349436", "ENSEMBL:ENSP00000349436.2"], "information_content": 100.0}
{"id": "NCBIGene:3482", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGF2R", "equivalent_identifiers": ["NCBIGene:3482", "ENSEMBL:ENSG00000197081", "HGNC:5467", "OMIM:147280", "UMLS:C1334090", "UniProtKB:P11717", "PR:P11717", "ENSEMBL:ENSP00000349437", "ENSEMBL:ENSP00000349437.1", "UMLS:C1334189"], "information_content": 75.7}
{"id": "UniProtKB:Q6PKC3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin domain-containing protein 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PKC3-1", "PR:Q6PKC3-1", "ENSEMBL:ENSP00000349439", "ENSEMBL:ENSP00000349439.3"], "information_content": 100.0}
{"id": "UniProtKB:P05089-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arginase-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P05089-2", "PR:P05089-2", "ENSEMBL:ENSP00000349446", "ENSEMBL:ENSP00000349446.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96S66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chloride channel CLIC-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96S66-1", "PR:Q96S66-1", "ENSEMBL:ENSP00000349456", "ENSEMBL:ENSP00000349456.2", "ENSEMBL:ENSP00000358986", "ENSEMBL:ENSP00000358986.3", "ENSEMBL:ENSP00000502251", "ENSEMBL:ENSP00000502251.1", "ENSEMBL:ENSP00000502457", "ENSEMBL:ENSP00000502457.1", "ENSEMBL:ENSP00000502648", "ENSEMBL:ENSP00000502648.1", "ENSEMBL:ENSP00000502836", "ENSEMBL:ENSP00000502836.1", "ENSEMBL:ENSP00000508473", "ENSEMBL:ENSP00000508473.1", "ENSEMBL:ENSP00000508563", "ENSEMBL:ENSP00000508563.1", "ENSEMBL:ENSP00000508607", "ENSEMBL:ENSP00000508607.1", "ENSEMBL:ENSP00000508816", "ENSEMBL:ENSP00000508816.1", "ENSEMBL:ENSP00000508884", "ENSEMBL:ENSP00000508884.1", "ENSEMBL:ENSP00000508952", "ENSEMBL:ENSP00000508952.1", "ENSEMBL:ENSP00000508982", "ENSEMBL:ENSP00000508982.1", "ENSEMBL:ENSP00000509013", "ENSEMBL:ENSP00000509013.1", "ENSEMBL:ENSP00000509036", "ENSEMBL:ENSP00000509036.1", "ENSEMBL:ENSP00000509218", "ENSEMBL:ENSP00000509218.1", "ENSEMBL:ENSP00000509330", "ENSEMBL:ENSP00000509330.1", "ENSEMBL:ENSP00000509420", "ENSEMBL:ENSP00000509420.1", "ENSEMBL:ENSP00000509451", "ENSEMBL:ENSP00000509451.1", "ENSEMBL:ENSP00000509533", "ENSEMBL:ENSP00000509533.1", "ENSEMBL:ENSP00000509544", "ENSEMBL:ENSP00000509544.1", "ENSEMBL:ENSP00000509584", "ENSEMBL:ENSP00000509584.1", "ENSEMBL:ENSP00000509782", "ENSEMBL:ENSP00000509782.1", "ENSEMBL:ENSP00000509936", "ENSEMBL:ENSP00000509936.1", "ENSEMBL:ENSP00000509960", "ENSEMBL:ENSP00000509960.1", "ENSEMBL:ENSP00000509990", "ENSEMBL:ENSP00000509990.1", "ENSEMBL:ENSP00000510067", "ENSEMBL:ENSP00000510067.1", "ENSEMBL:ENSP00000510137", "ENSEMBL:ENSP00000510137.1", "ENSEMBL:ENSP00000510142", "ENSEMBL:ENSP00000510142.1", "ENSEMBL:ENSP00000510291", "ENSEMBL:ENSP00000510291.1", "ENSEMBL:ENSP00000510352", "ENSEMBL:ENSP00000510352.1", "ENSEMBL:ENSP00000510582", "ENSEMBL:ENSP00000510582.1", "ENSEMBL:ENSP00000510602", "ENSEMBL:ENSP00000510602.1", "ENSEMBL:ENSP00000510666", "ENSEMBL:ENSP00000510666.1", "ENSEMBL:ENSP00000510675", "ENSEMBL:ENSP00000510675.1", "ENSEMBL:ENSP00000510715", "ENSEMBL:ENSP00000510715.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPZ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase ICK isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPZ9-1", "PR:Q9UPZ9-1", "ENSEMBL:ENSP00000349458", "ENSEMBL:ENSP00000349458.3", "ENSEMBL:ENSP00000501692", "ENSEMBL:ENSP00000501692.1"], "information_content": 100.0}
{"id": "NCBIGene:408187", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPINK14", "equivalent_identifiers": ["NCBIGene:408187", "ENSEMBL:ENSG00000196800", "HGNC:33825", "UMLS:C2828723", "UniProtKB:Q6IE38", "PR:Q6IE38", "ENSEMBL:ENSP00000349459", "ENSEMBL:ENSP00000349459.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14160-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000349486", "equivalent_identifiers": ["UniProtKB:Q14160-3", "ENSEMBL:ENSP00000349486", "ENSEMBL:ENSP00000349486.2", "ENSEMBL:ENSP00000484041", "ENSEMBL:ENSP00000484041.1"]}
{"id": "UniProtKB:O00587-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00587-1", "PR:O00587-1", "ENSEMBL:ENSP00000349490", "ENSEMBL:ENSP00000349490.3"], "information_content": 100.0}
{"id": "NCBIGene:2980", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GUCA2A", "equivalent_identifiers": ["NCBIGene:2980", "ENSEMBL:ENSG00000197273", "HGNC:4682", "OMIM:139392", "UMLS:C1415357", "UniProtKB:Q02747", "PR:Q02747", "ENSEMBL:ENSP00000349493", "ENSEMBL:ENSP00000349493.2", "UMLS:C4283930"], "information_content": 87.2}
{"id": "NCBIGene:7541", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB14", "equivalent_identifiers": ["NCBIGene:7541", "ENSEMBL:ENSG00000198081", "HGNC:12860", "OMIM:602126", "UMLS:C1421569", "UniProtKB:B2R850", "UMLS:C0665482", "MESH:C489978", "UniProtKB:O43829", "PR:O43829", "ENSEMBL:ENSP00000349503", "ENSEMBL:ENSP00000349503.4", "ENSEMBL:ENSP00000383009", "ENSEMBL:ENSP00000383009.3", "ENSEMBL:ENSP00000478971", "ENSEMBL:ENSP00000478971.1", "ENSEMBL:ENSP00000484129", "ENSEMBL:ENSP00000484129.1", "ENSEMBL:ENSP00000499212", "ENSEMBL:ENSP00000499212.1"], "information_content": 92.8}
{"id": "UniProtKB:Q6NZI2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caveolae-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NZI2-1", "PR:Q6NZI2-1", "ENSEMBL:ENSP00000349541", "ENSEMBL:ENSP00000349541.4"], "information_content": 100.0}
{"id": "NCBIGene:5828", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PEX2", "equivalent_identifiers": ["NCBIGene:5828", "ENSEMBL:ENSG00000164751", "HGNC:9717", "OMIM:170993", "UMLS:C1419149", "UniProtKB:P28328", "PR:P28328", "ENSEMBL:ENSP00000349543", "ENSEMBL:ENSP00000349543.4", "ENSEMBL:ENSP00000428590", "ENSEMBL:ENSP00000428590.1", "ENSEMBL:ENSP00000428638", "ENSEMBL:ENSP00000428638.1", "UMLS:C4546647", "MESH:C000614230"], "information_content": 100.0}
{"id": "UniProtKB:Q9NS23-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras association domain-containing protein 1 isoform D (human)", "equivalent_identifiers": ["UniProtKB:Q9NS23-1", "PR:Q9NS23-1", "ENSEMBL:ENSP00000349547", "ENSEMBL:ENSP00000349547.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDM7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 43 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDM7-1", "PR:Q8NDM7-1", "ENSEMBL:ENSP00000349568", "ENSEMBL:ENSP00000349568.3"], "information_content": 100.0}
{"id": "UniProtKB:P32321-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deoxycytidylate deaminase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P32321-2", "PR:P32321-2", "ENSEMBL:ENSP00000349576", "ENSEMBL:ENSP00000349576.3"], "information_content": 100.0}
{"id": "UniProtKB:O43272-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline dehydrogenase 1, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43272-4", "PR:O43272-4", "ENSEMBL:ENSP00000349577", "ENSEMBL:ENSP00000349577.6", "ENSEMBL:ENSP00000480347", "ENSEMBL:ENSP00000480347.1"], "information_content": 100.0}
{"id": "UniProtKB:Q01484-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin-2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q01484-4", "PR:Q01484-4", "ENSEMBL:ENSP00000349588", "ENSEMBL:ENSP00000349588.4"], "information_content": 100.0}
{"id": "NCBIGene:1996", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELAVL4", "equivalent_identifiers": ["NCBIGene:1996", "ENSEMBL:ENSG00000162374", "HGNC:3315", "OMIM:168360", "UMLS:C1414374", "UniProtKB:A0A0R4J2E6", "ENSEMBL:ENSP00000349594", "ENSEMBL:ENSP00000349594.5", "UMLS:C1504877", "MESH:C498010", "UniProtKB:A0A494C0M6", "ENSEMBL:ENSP00000498618", "ENSEMBL:ENSP00000498618.1", "UniProtKB:A0A494C147", "ENSEMBL:ENSP00000498865", "ENSEMBL:ENSP00000498865.1", "UniProtKB:A0A494C1D9", "ENSEMBL:ENSP00000498979", "ENSEMBL:ENSP00000498979.1", "UniProtKB:B1APY9", "ENSEMBL:ENSP00000360884", "ENSEMBL:ENSP00000360884.1", "UniProtKB:P26378", "PR:P26378"]}
{"id": "UniProtKB:O14983-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform hSERCA1B (human)", "equivalent_identifiers": ["UniProtKB:O14983-1", "PR:O14983-1", "ENSEMBL:ENSP00000349595", "ENSEMBL:ENSP00000349595.3"], "information_content": 100.0}
{"id": "NCBIGene:10475", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM38", "equivalent_identifiers": ["NCBIGene:10475", "ENSEMBL:ENSG00000112343", "HGNC:10059", "UMLS:C1419417", "UniProtKB:O00635", "PR:O00635", "ENSEMBL:ENSP00000349596", "ENSEMBL:ENSP00000349596.2", "UMLS:C1308158", "MESH:C106984"], "information_content": 100.0}
{"id": "NCBIGene:79602", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADIPOR2", "equivalent_identifiers": ["NCBIGene:79602", "ENSEMBL:ENSG00000006831", "HGNC:24041", "OMIM:607946", "UMLS:C1540189", "UniProtKB:Q86V24", "PR:Q86V24", "ENSEMBL:ENSP00000349616", "ENSEMBL:ENSP00000349616.4", "ENSEMBL:ENSP00000495699", "ENSEMBL:ENSP00000495699.1", "UMLS:C1259441", "UMLS:C3537285", "MESH:C475420"], "information_content": 95.4}
{"id": "UniProtKB:P50851-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lipopolysaccharide-responsive and beige-like anchor protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P50851-1", "PR:P50851-1", "ENSEMBL:ENSP00000349629", "ENSEMBL:ENSP00000349629.3"], "information_content": 100.0}
{"id": "MONDO:0015698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient hypogammaglobulinemia of infancy", "equivalent_identifiers": ["MONDO:0015698", "DOID:624", "orphanet:169139", "UMLS:C0272238", "UMLS:C4020822", "MEDDRA:10044388", "MEDDRA:10054672", "NCIT:C27071", "SNOMEDCT:88714009", "medgen:124421", "icd11.foundation:1686370790", "ICD10:D80.7", "HP:0005432"], "information_content": 100.0}
{"id": "UniProtKB:Q96EZ8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microspherule protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96EZ8-2", "PR:Q96EZ8-2", "ENSEMBL:ENSP00000349640", "ENSEMBL:ENSP00000349640.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQH7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Xaa-Pro aminopeptidase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQH7-1", "PR:Q9NQH7-1", "ENSEMBL:ENSP00000349658", "ENSEMBL:ENSP00000349658.4"], "information_content": 100.0}
{"id": "NCBIGene:389320", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPMIP10", "equivalent_identifiers": ["NCBIGene:389320", "ENSEMBL:ENSG00000196900", "HGNC:33767", "UMLS:C2681233", "UniProtKB:Q6ZNM6", "PR:Q6ZNM6", "ENSEMBL:ENSP00000349669", "ENSEMBL:ENSP00000349669.3"], "information_content": 100.0}
{"id": "UniProtKB:A2RUH7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin-binding protein H-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2RUH7-1", "PR:A2RUH7-1", "ENSEMBL:ENSP00000349678", "ENSEMBL:ENSP00000349678.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NP97-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein light chain roadblock-type 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP97-1", "PR:Q9NP97-1", "ENSEMBL:ENSP00000349679", "ENSEMBL:ENSP00000349679.2"], "information_content": 100.0}
{"id": "NCBIGene:2760", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GM2A", "equivalent_identifiers": ["NCBIGene:2760", "ENSEMBL:ENSG00000196743", "HGNC:4367", "OMIM:613109", "UMLS:C1415127", "UniProtKB:P17900", "PR:P17900", "ENSEMBL:ENSP00000349687", "ENSEMBL:ENSP00000349687.3", "UMLS:C5890833"], "information_content": 100.0}
{"id": "NCBIGene:51114", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZDHHC9", "equivalent_identifiers": ["NCBIGene:51114", "ENSEMBL:ENSG00000188706", "HGNC:18475", "OMIM:300646", "UMLS:C1425540", "UniProtKB:Q9Y397", "PR:Q9Y397", "ENSEMBL:ENSP00000349689", "ENSEMBL:ENSP00000349689.6", "ENSEMBL:ENSP00000360103", "ENSEMBL:ENSP00000360103.3", "UMLS:C1613894", "MESH:C504825"], "information_content": 95.4}
{"id": "MONDO:0013310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency", "equivalent_identifiers": ["MONDO:0013310", "DOID:0080925", "OMIM:613571", "orphanet:95699", "UMLS:C1860042", "UMLS:C4330909", "NCIT:C131302", "NCIT:C174439", "SNOMEDCT:715733000", "medgen:348008", "icd11.foundation:497412536"], "information_content": 100.0}
{"id": "UniProtKB:O95789-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger MYM-type protein 6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O95789-3", "PR:O95789-3", "ENSEMBL:ENSP00000349708", "ENSEMBL:ENSP00000349708.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TD07-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinoic acid early transcript 1E isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TD07-1", "PR:Q8TD07-1", "ENSEMBL:ENSP00000349709", "ENSEMBL:ENSP00000349709.4"], "information_content": 100.0}
{"id": "UniProtKB:P61077-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 D3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P61077-3", "PR:P61077-3", "ENSEMBL:ENSP00000349722", "ENSEMBL:ENSP00000349722.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0K0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-cell lymphoma/leukemia 11B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0K0-1", "PR:Q9C0K0-1", "ENSEMBL:ENSP00000349723", "ENSEMBL:ENSP00000349723.3"], "information_content": 100.0}
{"id": "NCBIGene:79930", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DOK3", "equivalent_identifiers": ["NCBIGene:79930", "ENSEMBL:ENSG00000146094", "HGNC:24583", "OMIM:611435", "UMLS:C1539309", "UniProtKB:A0A6M4C8X9", "UMLS:C1872248", "MESH:C518789", "UniProtKB:D6RAM3", "ENSEMBL:ENSP00000349727", "ENSEMBL:ENSP00000349727.5", "ENSEMBL:ENSP00000421688", "ENSEMBL:ENSP00000421688.1", "ENSEMBL:ENSP00000424726", "ENSEMBL:ENSP00000424726.2", "UniProtKB:Q7L591", "PR:Q7L591"]}
{"id": "UniProtKB:Q9UK00-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C3orf18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UK00-1", "PR:Q9UK00-1", "ENSEMBL:ENSP00000349732", "ENSEMBL:ENSP00000349732.3", "ENSEMBL:ENSP00000387606", "ENSEMBL:ENSP00000387606.1", "ENSEMBL:ENSP00000404913", "ENSEMBL:ENSP00000404913.1"], "information_content": 100.0}
{"id": "MONDO:0001364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "regular astigmatism", "equivalent_identifiers": ["MONDO:0001364", "DOID:11781", "UMLS:C0152193", "MEDDRA:10038287", "SNOMEDCT:68905002", "medgen:508921", "icd11.foundation:879600754", "ICD10:H52.22", "ICD9:367.21"], "information_content": 100.0}
{"id": "MONDO:0001307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "corneal abscess", "equivalent_identifiers": ["MONDO:0001307", "DOID:11543", "UMLS:C0155091", "MEDDRA:10010985", "MEDDRA:10010986", "NCIT:C26969", "SNOMEDCT:64366002", "medgen:56351", "icd11.foundation:485862779", "ICD10:H16.31", "ICD9:370.55"], "information_content": 100.0}
{"id": "UniProtKB:P23246-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "splicing factor, proline- and glutamine-rich isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P23246-1", "PR:P23246-1", "ENSEMBL:ENSP00000349748", "ENSEMBL:ENSP00000349748.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6V1P9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin-23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6V1P9-1", "PR:Q6V1P9-1", "ENSEMBL:ENSP00000349768", "ENSEMBL:ENSP00000349768.5", "ENSEMBL:ENSP00000491252", "ENSEMBL:ENSP00000491252.2"], "information_content": 100.0}
{"id": "UniProtKB:Q0IIM8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 8B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q0IIM8-1", "PR:Q0IIM8-1", "ENSEMBL:ENSP00000349781", "ENSEMBL:ENSP00000349781.5"], "information_content": 100.0}
{"id": "MONDO:0010520", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked Alport syndrome", "equivalent_identifiers": ["MONDO:0010520", "DOID:0110034", "OMIM:301050", "orphanet:88917", "UMLS:C1567742", "UMLS:C4746986", "SNOMEDCT:717768004", "medgen:1648433"], "information_content": 100.0}
{"id": "NCBIGene:440738", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAP1LC3C", "equivalent_identifiers": ["NCBIGene:440738", "ENSEMBL:ENSG00000197769", "HGNC:13353", "OMIM:609605", "UMLS:C1825942", "UniProtKB:Q9BXW4", "PR:Q9BXW4", "ENSEMBL:ENSP00000349785", "ENSEMBL:ENSP00000349785.3", "UMLS:C1311385", "MESH:C502071"], "information_content": 100.0}
{"id": "UniProtKB:P20849-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(IX) chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P20849-1", "PR:P20849-1", "ENSEMBL:ENSP00000349790", "ENSEMBL:ENSP00000349790.6"], "information_content": 100.0}
{"id": "NCBIGene:55924", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INKA2", "equivalent_identifiers": ["NCBIGene:55924", "ENSEMBL:ENSG00000197852", "HGNC:28045", "OMIM:620403", "UMLS:C3470290", "UniProtKB:Q9NTI7", "PR:Q9NTI7", "ENSEMBL:ENSP00000349805", "ENSEMBL:ENSP00000349805.5"], "information_content": 100.0}
{"id": "NCBIGene:50485", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMARCAL1", "equivalent_identifiers": ["NCBIGene:50485", "ENSEMBL:ENSG00000138375", "HGNC:11102", "OMIM:606622", "UMLS:C1420250", "UniProtKB:Q9NZC9", "PR:Q9NZC9", "ENSEMBL:ENSP00000349823", "ENSEMBL:ENSP00000349823.4", "ENSEMBL:ENSP00000350940", "ENSEMBL:ENSP00000350940.5", "ENSEMBL:ENSP00000394410", "ENSEMBL:ENSP00000394410.2", "ENSEMBL:ENSP00000398969", "ENSEMBL:ENSP00000398969.2", "ENSEMBL:ENSP00000405077", "ENSEMBL:ENSP00000405077.2", "UMLS:C1439140", "MESH:C412482"], "information_content": 89.4}
{"id": "UniProtKB:Q8NFH8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RalBP1-associated Eps domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFH8-1", "PR:Q8NFH8-1", "ENSEMBL:ENSP00000349824", "ENSEMBL:ENSP00000349824.3"], "information_content": 100.0}
{"id": "MONDO:0013135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hemophagocytic lymphohistiocytosis 5", "equivalent_identifiers": ["MONDO:0013135", "DOID:0110925", "OMIM:613101", "UMLS:C2751293", "MESH:C567752", "NCIT:C203464", "medgen:416514"], "information_content": 92.8}
{"id": "UniProtKB:Q06210-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q06210-1", "PR:Q06210-1", "ENSEMBL:ENSP00000349860", "ENSEMBL:ENSP00000349860.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9HD20-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endoplasmic reticulum transmembrane helix translocase isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9HD20-1", "PR:Q9HD20-1", "ENSEMBL:ENSP00000349877", "ENSEMBL:ENSP00000349877.6"], "information_content": 100.0}
{"id": "MONDO:0011232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "migraine, familial hemiplegic, 2", "equivalent_identifiers": ["MONDO:0011232", "DOID:0111182", "OMIM:602481", "UMLS:C1865322", "UMLS:C1865323", "MESH:C537246", "MESH:C566540", "SNOMEDCT:1260330000", "medgen:355962"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBC7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "galanin-like peptide isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBC7-1", "PR:Q9UBC7-1", "ENSEMBL:ENSP00000349884", "ENSEMBL:ENSP00000349884.2"], "information_content": 100.0}
{"id": "NCBIGene:8270", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LAGE3", "equivalent_identifiers": ["NCBIGene:8270", "ENSEMBL:ENSG00000196976", "HGNC:26058", "OMIM:300060", "UMLS:C1825785", "UniProtKB:Q14657", "PR:Q14657", "ENSEMBL:ENSP00000349923", "ENSEMBL:ENSP00000349923.4", "UMLS:C3542424", "UMLS:C4547550", "MESH:C000624203"], "information_content": 100.0}
{"id": "NCBIGene:391002", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF8", "equivalent_identifiers": ["NCBIGene:391002", "ENSEMBL:ENSG00000182330", "HGNC:24074", "UMLS:C1826680", "UniProtKB:Q5VWM4", "PR:Q5VWM4", "ENSEMBL:ENSP00000349931", "ENSEMBL:ENSP00000349931.2", "ENSEMBL:ENSP00000478860", "ENSEMBL:ENSP00000478860.1", "ENSEMBL:ENSP00000480509", "ENSEMBL:ENSP00000480509.1", "ENSEMBL:ENSP00000484753", "ENSEMBL:ENSP00000484753.1", "ENSEMBL:ENSP00000488367", "ENSEMBL:ENSP00000488367.1", "ENSEMBL:ENSP00000488817", "ENSEMBL:ENSP00000488817.1", "ENSEMBL:ENSP00000488892", "ENSEMBL:ENSP00000488892.1", "ENSEMBL:ENSP00000490581", "ENSEMBL:ENSP00000490581.1", "ENSEMBL:ENSP00000490790", "ENSEMBL:ENSP00000490790.1"], "information_content": 100.0}
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{"id": "NCBIGene:219965", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5B17", "equivalent_identifiers": ["NCBIGene:219965", "ENSEMBL:ENSG00000197786", "HGNC:15267", "UMLS:C1423353", "UniProtKB:A0A126GVL8", "UniProtKB:Q8NGF7", "PR:Q8NGF7", "ENSEMBL:ENSP00000349945", "ENSEMBL:ENSP00000349945.3"], "information_content": 100.0}
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{"id": "NCBIGene:2181", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACSL3", "equivalent_identifiers": ["NCBIGene:2181", "ENSEMBL:ENSG00000123983", "HGNC:3570", "OMIM:602371", "UMLS:C1414519", "UniProtKB:O95573", "PR:O95573", "ENSEMBL:ENSP00000350012", "ENSEMBL:ENSP00000350012.3", "ENSEMBL:ENSP00000375918", "ENSEMBL:ENSP00000375918.3", "ENSEMBL:ENSP00000504861", "ENSEMBL:ENSP00000504861.1", "ENSEMBL:ENSP00000504907", "ENSEMBL:ENSP00000504907.1", "ENSEMBL:ENSP00000505400", "ENSEMBL:ENSP00000505400.1", "ENSEMBL:ENSP00000505654", "ENSEMBL:ENSP00000505654.1", "ENSEMBL:ENSP00000505793", "ENSEMBL:ENSP00000505793.1", "ENSEMBL:ENSP00000505856", "ENSEMBL:ENSP00000505856.1", "ENSEMBL:ENSP00000505940", "ENSEMBL:ENSP00000505940.1", "ENSEMBL:ENSP00000506361", "ENSEMBL:ENSP00000506361.1", "ENSEMBL:ENSP00000506468", "ENSEMBL:ENSP00000506468.1", "UMLS:C1432387", "MESH:C000730347"], "information_content": 85.5}
{"id": "NCBIGene:55691", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FRMD4A", "equivalent_identifiers": ["NCBIGene:55691", "ENSEMBL:ENSG00000151474", "HGNC:25491", "OMIM:616305", "UMLS:C1539533", "UniProtKB:Q9NW91", "UMLS:C3502282", "MESH:C574784", "UniProtKB:Q9P2Q2", "PR:Q9P2Q2", "ENSEMBL:ENSP00000350032", "ENSEMBL:ENSP00000350032.2"], "information_content": 90.9}
{"id": "UniProtKB:Q8NDV3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "structural maintenance of chromosomes protein 1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDV3-3", "PR:Q8NDV3-3", "ENSEMBL:ENSP00000350036", "ENSEMBL:ENSP00000350036.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IX15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox and leucine zipper protein Homez isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IX15-1", "PR:Q8IX15-1", "ENSEMBL:ENSP00000350049", "ENSEMBL:ENSP00000350049.4"], "information_content": 100.0}
{"id": "UniProtKB:P0DPD6-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endothelin-converting enzyme 2 isoform 2C (human)", "equivalent_identifiers": ["UniProtKB:P0DPD6-4", "PR:P0DPD6-4", "ENSEMBL:ENSP00000350066", "ENSEMBL:ENSP00000350066.5"], "information_content": 100.0}
{"id": "UniProtKB:Q13033-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "striatin-3 isoform Beta (human)", "equivalent_identifiers": ["UniProtKB:Q13033-1", "PR:Q13033-1", "ENSEMBL:ENSP00000350071", "ENSEMBL:ENSP00000350071.5"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6K5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arpin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6K5-1", "PR:Q7Z6K5-1", "ENSEMBL:ENSP00000350075", "ENSEMBL:ENSP00000350075.5"], "information_content": 100.0}
{"id": "UniProtKB:Q03989-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AT-rich interactive domain-containing protein 5A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q03989-1", "PR:Q03989-1", "ENSEMBL:ENSP00000350078", "ENSEMBL:ENSP00000350078.3"], "information_content": 100.0}
{"id": "NCBIGene:144983", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HNRNPA1L2", "equivalent_identifiers": ["NCBIGene:144983", "ENSEMBL:ENSG00000139675", "HGNC:27067", "UMLS:C2681592", "UniProtKB:Q32P51", "PR:Q32P51", "ENSEMBL:ENSP00000350090", "ENSEMBL:ENSP00000350090.2"], "information_content": 87.2}
{"id": "UniProtKB:Q969H6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribonuclease P/MRP protein subunit POP5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969H6-1", "PR:Q969H6-1", "ENSEMBL:ENSP00000350098", "ENSEMBL:ENSP00000350098.4"], "information_content": 100.0}
{"id": "NCBIGene:54863", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOR4A", "equivalent_identifiers": ["NCBIGene:54863", "ENSEMBL:ENSG00000198113", "HGNC:25981", "UMLS:C3470119", "UniProtKB:Q9NXH8", "PR:Q9NXH8", "ENSEMBL:ENSP00000350102", "ENSEMBL:ENSP00000350102.2"], "information_content": 100.0}
{"id": "MONDO:0014147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronal ceroid lipofuscinosis 13", "equivalent_identifiers": ["MONDO:0014147", "DOID:0110727", "OMIM:615362", "orphanet:352709", "UMLS:C3715049", "medgen:811566"], "information_content": 100.0}
{"id": "NCBIGene:5350", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLN", "equivalent_identifiers": ["NCBIGene:5350", "ENSEMBL:ENSG00000198523", "HGNC:9080", "OMIM:172405", "UMLS:C1418650", "UniProtKB:P26678", "PR:P26678", "ENSEMBL:ENSP00000350132", "ENSEMBL:ENSP00000350132.5", "UMLS:C1453157", "UniProtKB:Q5R352"], "information_content": 92.8}
{"id": "UniProtKB:Q9ULI2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-citrylglutamate synthase B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULI2-1", "PR:Q9ULI2-1", "ENSEMBL:ENSP00000350136", "ENSEMBL:ENSP00000350136.3", "ENSEMBL:ENSP00000440943", "ENSEMBL:ENSP00000440943.1", "ENSEMBL:ENSP00000445863", "ENSEMBL:ENSP00000445863.1"], "information_content": 100.0}
{"id": "NCBIGene:10388", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYCP2", "equivalent_identifiers": ["NCBIGene:10388", "ENSEMBL:ENSG00000196074", "HGNC:11490", "OMIM:604105", "UMLS:C1420540", "UniProtKB:Q9BX26", "PR:Q9BX26", "ENSEMBL:ENSP00000350162", "ENSEMBL:ENSP00000350162.2", "ENSEMBL:ENSP00000360040", "ENSEMBL:ENSP00000360040.2", "UMLS:C2607651", "MESH:C534707"], "information_content": 100.0}
{"id": "UniProtKB:P51114-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein FXR1 isoform D (human)", "equivalent_identifiers": ["UniProtKB:P51114-1", "PR:P51114-1", "ENSEMBL:ENSP00000350170", "ENSEMBL:ENSP00000350170.3"], "information_content": 100.0}
{"id": "UniProtKB:O95382-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95382-1", "PR:O95382-1", "ENSEMBL:ENSP00000350195", "ENSEMBL:ENSP00000350195.2"], "information_content": 100.0}
{"id": "UniProtKB:P30874-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "somatostatin receptor type 2 isoform A (human)", "equivalent_identifiers": ["UniProtKB:P30874-1", "PR:P30874-1", "ENSEMBL:ENSP00000350198", "ENSEMBL:ENSP00000350198.2"], "information_content": 100.0}
{"id": "UniProtKB:Q10567-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-1 complex subunit beta-1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q10567-1", "PR:Q10567-1", "ENSEMBL:ENSP00000350199", "ENSEMBL:ENSP00000350199.2"], "information_content": 100.0}
{"id": "NCBIGene:85406", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJC14", "equivalent_identifiers": ["NCBIGene:85406", "ENSEMBL:ENSG00000135392", "HGNC:24581", "OMIM:606092", "UMLS:C1428391", "UniProtKB:Q6Y2X3", "PR:Q6Y2X3", "ENSEMBL:ENSP00000317500", "ENSEMBL:ENSP00000317500.5", "ENSEMBL:ENSP00000350223", "ENSEMBL:ENSP00000350223.3", "ENSEMBL:ENSP00000448876", "ENSEMBL:ENSP00000448876.2", "ENSEMBL:ENSP00000450196", "ENSEMBL:ENSP00000450196.2", "ENSEMBL:ENSP00000504134", "ENSEMBL:ENSP00000504134.1", "UMLS:C1310968", "MESH:C476535"], "information_content": 100.0}
{"id": "NCBIGene:660", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BMX", "equivalent_identifiers": ["NCBIGene:660", "ENSEMBL:ENSG00000102010", "HGNC:1079", "OMIM:300101", "UMLS:C1332433", "UniProtKB:P51813", "PR:P51813", "ENSEMBL:ENSP00000308774", "ENSEMBL:ENSP00000308774.6", "ENSEMBL:ENSP00000340082", "ENSEMBL:ENSP00000340082.6", "ENSEMBL:ENSP00000350224", "ENSEMBL:ENSP00000350224.2", "UMLS:C1384557", "MESH:C492367"], "information_content": 95.4}
{"id": "UniProtKB:Q9NUX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protection of telomeres protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUX5-1", "PR:Q9NUX5-1", "ENSEMBL:ENSP00000350249", "ENSEMBL:ENSP00000350249.3", "ENSEMBL:ENSP00000499290", "ENSEMBL:ENSP00000499290.1", "ENSEMBL:ENSP00000499476", "ENSEMBL:ENSP00000499476.1", "ENSEMBL:ENSP00000499546", "ENSEMBL:ENSP00000499546.1", "ENSEMBL:ENSP00000499635", "ENSEMBL:ENSP00000499635.1"], "information_content": 100.0}
{"id": "UniProtKB:P51686-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-C chemokine receptor type 9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P51686-1", "PR:P51686-1", "ENSEMBL:ENSP00000350256", "ENSEMBL:ENSP00000350256.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5XKK7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM219B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5XKK7-1", "PR:Q5XKK7-1", "ENSEMBL:ENSP00000350260", "ENSEMBL:ENSP00000350260.5", "ENSEMBL:ENSP00000454719", "ENSEMBL:ENSP00000454719.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6A0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DENN domain-containing protein 2D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6A0-1", "PR:Q9H6A0-1", "ENSEMBL:ENSP00000350266", "ENSEMBL:ENSP00000350266.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULD4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain and PHD finger-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULD4-1", "PR:Q9ULD4-1", "ENSEMBL:ENSP00000350267", "ENSEMBL:ENSP00000350267.6"], "information_content": 100.0}
{"id": "NCBIGene:148867", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC30A7", "equivalent_identifiers": ["NCBIGene:148867", "ENSEMBL:ENSG00000162695", "HGNC:19306", "OMIM:611149", "UMLS:C1426153", "UniProtKB:Q8NEW0", "PR:Q8NEW0", "ENSEMBL:ENSP00000350278", "ENSEMBL:ENSP00000350278.4", "ENSEMBL:ENSP00000359130", "ENSEMBL:ENSP00000359130.4", "ENSEMBL:ENSP00000520907", "ENSEMBL:ENSP00000520907.1", "UMLS:C1175058", "MESH:C472294"], "information_content": 95.4}
{"id": "NCBIGene:125893", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF816", "equivalent_identifiers": ["NCBIGene:125893", "ENSEMBL:ENSG00000180257", "HGNC:26995", "UMLS:C3147056", "UniProtKB:Q0VGE8", "PR:Q0VGE8", "ENSEMBL:ENSP00000350295", "ENSEMBL:ENSP00000350295.4", "ENSEMBL:ENSP00000403266", "ENSEMBL:ENSP00000403266.2"], "information_content": 100.0}
{"id": "UniProtKB:P23634-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plasma membrane calcium-transporting ATPase 4 isoform XB (human)", "equivalent_identifiers": ["UniProtKB:P23634-6", "PR:P23634-6", "ENSEMBL:ENSP00000350310", "ENSEMBL:ENSP00000350310.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYV7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carotenoid-cleaving dioxygenase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYV7-1", "PR:Q9BYV7-1", "ENSEMBL:ENSP00000350314", "ENSEMBL:ENSP00000350314.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXK3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and SOCS box protein 13 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXK3-1", "PR:Q8WXK3-1", "ENSEMBL:ENSP00000350331", "ENSEMBL:ENSP00000350331.6"], "information_content": 100.0}
{"id": "MONDO:0014530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 18", "equivalent_identifiers": ["MONDO:0014530", "DOID:0080042", "OMIM:616204", "orphanet:363432", "UMLS:C4015505", "medgen:863942"], "information_content": 100.0}
{"id": "NCBIGene:4606", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYBPC2", "equivalent_identifiers": ["NCBIGene:4606", "ENSEMBL:ENSG00000086967", "HGNC:7550", "OMIM:160793", "UMLS:C1417522", "UniProtKB:A0A140VJQ0", "UMLS:C1527799", "UniProtKB:Q14324", "PR:Q14324", "ENSEMBL:ENSP00000350332", "ENSEMBL:ENSP00000350332.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0E3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone deacetylase complex subunit SAP130 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0E3-3", "PR:Q9H0E3-3", "ENSEMBL:ENSP00000350333", "ENSEMBL:ENSP00000350333.5"], "information_content": 100.0}
{"id": "UniProtKB:Q14831-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metabotropic glutamate receptor 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14831-1", "PR:Q14831-1", "ENSEMBL:ENSP00000350348", "ENSEMBL:ENSP00000350348.4"], "information_content": 100.0}
{"id": "NCBIGene:254013", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ETFBKMT", "equivalent_identifiers": ["NCBIGene:254013", "ENSEMBL:ENSG00000139160", "HGNC:28739", "OMIM:615256", "UMLS:C2681279", "UniProtKB:Q8IXQ9", "PR:Q8IXQ9", "ENSEMBL:ENSP00000350353", "ENSEMBL:ENSP00000350353.3", "ENSEMBL:ENSP00000379112", "ENSEMBL:ENSP00000379112.3", "ENSEMBL:ENSP00000396123", "ENSEMBL:ENSP00000396123.2", "ENSEMBL:ENSP00000441421", "ENSEMBL:ENSP00000441421.1", "UMLS:C3883779", "MESH:C000594659"], "information_content": 95.4}
{"id": "NCBIGene:390999", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF12", "equivalent_identifiers": ["NCBIGene:390999", "ENSEMBL:ENSG00000116726", "HGNC:22125", "UMLS:C1826684", "UniProtKB:O95522", "PR:O95522", "ENSEMBL:ENSP00000350358", "ENSEMBL:ENSP00000350358.4"], "information_content": 100.0}
{"id": "UniProtKB:Q02930-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic AMP-responsive element-binding protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02930-1", "PR:Q02930-1", "ENSEMBL:ENSP00000350359", "ENSEMBL:ENSP00000350359.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z3B1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal growth regulator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3B1-1", "PR:Q7Z3B1-1", "ENSEMBL:ENSP00000350364", "ENSEMBL:ENSP00000350364.4"], "information_content": 100.0}
{"id": "NCBIGene:4097", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAFG", "equivalent_identifiers": ["NCBIGene:4097", "ENSEMBL:ENSG00000197063", "HGNC:6781", "OMIM:602020", "UMLS:C0812300", "UniProtKB:O15525", "PR:O15525", "ENSEMBL:ENSP00000350369", "ENSEMBL:ENSP00000350369.4", "ENSEMBL:ENSP00000376173", "ENSEMBL:ENSP00000376173.3", "UMLS:C0534921", "MESH:C103944"], "information_content": 95.4}
{"id": "MONDO:0009354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylcobalamin deficiency type cblE", "equivalent_identifiers": ["MONDO:0009354", "DOID:0050732", "DOID:0112255", "OMIM:236270", "orphanet:2169", "EFO:0005568", "UMLS:C1856057", "MESH:C565510", "NCIT:C142173", "SNOMEDCT:1296847007", "medgen:344640"], "information_content": 100.0}
{"id": "UniProtKB:Q6DN12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multiple C2 and transmembrane domain-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6DN12-1", "PR:Q6DN12-1", "ENSEMBL:ENSP00000350377", "ENSEMBL:ENSP00000350377.4"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z5G4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "golgin subfamily A member 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5G4-1", "PR:Q7Z5G4-1", "ENSEMBL:ENSP00000350378", "ENSEMBL:ENSP00000350378.4", "ENSEMBL:ENSP00000429329", "ENSEMBL:ENSP00000429329.1", "ENSEMBL:ENSP00000510742", "ENSEMBL:ENSP00000510742.1", "ENSEMBL:ENSP00000511557", "ENSEMBL:ENSP00000511557.1", "ENSEMBL:ENSP00000511558", "ENSEMBL:ENSP00000511558.1", "ENSEMBL:ENSP00000511560", "ENSEMBL:ENSP00000511560.1", "ENSEMBL:ENSP00000511568", "ENSEMBL:ENSP00000511568.1", "ENSEMBL:ENSP00000511569", "ENSEMBL:ENSP00000511569.1", "ENSEMBL:ENSP00000511570", "ENSEMBL:ENSP00000511570.1", "ENSEMBL:ENSP00000511586", "ENSEMBL:ENSP00000511586.1", "ENSEMBL:ENSP00000511591", "ENSEMBL:ENSP00000511591.1"], "information_content": 100.0}
{"id": "UniProtKB:P24386-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab proteins geranylgeranyltransferase component A 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P24386-1", "PR:P24386-1", "ENSEMBL:ENSP00000350386", "ENSEMBL:ENSP00000350386.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UM44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HERV-H LTR-associating protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UM44-1", "PR:Q9UM44-1", "ENSEMBL:ENSP00000350402", "ENSEMBL:ENSP00000350402.5", "ENSEMBL:ENSP00000417856", "ENSEMBL:ENSP00000417856.2", "ENSEMBL:ENSP00000419207", "ENSEMBL:ENSP00000419207.1"], "information_content": 100.0}
{"id": "NCBIGene:148198", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF98", "equivalent_identifiers": ["NCBIGene:148198", "ENSEMBL:ENSG00000197360", "HGNC:13174", "OMIM:603980", "UMLS:C1421856", "UniProtKB:A6NK75", "PR:A6NK75", "ENSEMBL:ENSP00000350418", "ENSEMBL:ENSP00000350418.4"], "information_content": 95.4}
{"id": "MONDO:0007524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Ehlers-Danlos syndrome, vascular type", "equivalent_identifiers": ["MONDO:0007524", "DOID:14756", "OMIM:130050", "UMLS:C0268339", "medgen:541286"], "information_content": 100.0}
{"id": "NCBIGene:337", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOA4", "equivalent_identifiers": ["NCBIGene:337", "ENSEMBL:ENSG00000110244", "HGNC:602", "OMIM:107690", "UMLS:C1412470", "UniProtKB:P06727", "PR:P06727", "ENSEMBL:ENSP00000350425", "ENSEMBL:ENSP00000350425.3", "UMLS:C2930630"], "information_content": 95.4}
{"id": "UniProtKB:Q562F6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "shugoshin 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q562F6-1", "PR:Q562F6-1", "ENSEMBL:ENSP00000350447", "ENSEMBL:ENSP00000350447.4"], "information_content": 100.0}
{"id": "NCBIGene:5557", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRIM1", "equivalent_identifiers": ["NCBIGene:5557", "ENSEMBL:ENSG00000198056", "HGNC:9369", "OMIM:176635", "UMLS:C1335259", "UniProtKB:P49642", "PR:P49642", "ENSEMBL:ENSP00000350491", "ENSEMBL:ENSP00000350491.5", "ENSEMBL:ENSP00000516451", "ENSEMBL:ENSP00000516451.1", "UMLS:C1335494", "UMLS:C4276547", "MESH:C000609421"], "information_content": 95.4}
{"id": "UniProtKB:Q9NVV5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "androgen-induced gene 1 protein isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVV5-2", "PR:Q9NVV5-2", "ENSEMBL:ENSP00000350509", "ENSEMBL:ENSP00000350509.4"], "information_content": 100.0}
{"id": "NCBIGene:10987", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COPS5", "equivalent_identifiers": ["NCBIGene:10987", "ENSEMBL:ENSG00000121022", "HGNC:2240", "OMIM:604850", "UMLS:C1413614", "UniProtKB:A0A024R7W9", "UMLS:C1569979", "MESH:C501488", "UniProtKB:Q92905", "PR:Q92905", "ENSEMBL:ENSP00000350512", "ENSEMBL:ENSP00000350512.4"], "information_content": 90.9}
{"id": "UniProtKB:Q6Q4G3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aminopeptidase Q isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6Q4G3-1", "PR:Q6Q4G3-1", "ENSEMBL:ENSP00000350541", "ENSEMBL:ENSP00000350541.4"], "information_content": 100.0}
{"id": "MONDO:0001369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic laryngitis", "equivalent_identifiers": ["MONDO:0001369", "DOID:11797", "UMLS:C0155836", "MEDDRA:10008940", "MEDDRA:10023877", "MEDDRA:10023878", "NCIT:C26975", "SNOMEDCT:29951006", "medgen:102342", "icd11.foundation:2009723608", "ICD10:J37.0", "ICD9:476.0"], "information_content": 100.0}
{"id": "MONDO:0002646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "viral laryngitis", "equivalent_identifiers": ["MONDO:0002646", "DOID:3436", "UMLS:C0853195", "MEDDRA:10023880", "MEDDRA:10023881", "MEDDRA:10047467", "NCIT:C27305", "SNOMEDCT:441551009", "medgen:167276"], "information_content": 100.0}
{"id": "UniProtKB:O95754-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "semaphorin-4F isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O95754-1", "PR:O95754-1", "ENSEMBL:ENSP00000350547", "ENSEMBL:ENSP00000350547.2"], "information_content": 100.0}
{"id": "NCBIGene:340784", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMX3", "equivalent_identifiers": ["NCBIGene:340784", "ENSEMBL:ENSG00000188620", "HGNC:5019", "OMIM:613380", "UMLS:C1415624", "UniProtKB:A6NHT5", "PR:A6NHT5", "ENSEMBL:ENSP00000350549", "ENSEMBL:ENSP00000350549.4", "UMLS:C3657822", "MESH:C578991"], "information_content": 95.4}
{"id": "UniProtKB:Q33E94-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor RFX4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q33E94-2", "PR:Q33E94-2", "ENSEMBL:ENSP00000350552", "ENSEMBL:ENSP00000350552.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N8Z8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 441 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8Z8-1", "PR:Q8N8Z8-1", "ENSEMBL:ENSP00000350576", "ENSEMBL:ENSP00000350576.4"], "information_content": 100.0}
{"id": "NCBIGene:29950", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERTAD1", "equivalent_identifiers": ["NCBIGene:29950", "ENSEMBL:ENSG00000197019", "HGNC:17932", "OMIM:617850", "UMLS:C1425186", "UniProtKB:Q53GC0", "UMLS:C1313736", "MESH:C402464", "UniProtKB:Q9UHV2", "PR:Q9UHV2", "ENSEMBL:ENSP00000350633", "ENSEMBL:ENSP00000350633.4"], "information_content": 92.8}
{"id": "UniProtKB:P58499-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM3B isoform B (human)", "equivalent_identifiers": ["UniProtKB:P58499-1", "PR:P58499-1", "ENSEMBL:ENSP00000350673", "ENSEMBL:ENSP00000350673.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPP1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone lysine demethylase PHF8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPP1-1", "PR:Q9UPP1-1", "ENSEMBL:ENSP00000350676", "ENSEMBL:ENSP00000350676.5"], "information_content": 95.4}
{"id": "UniProtKB:P28324-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS domain-containing protein Elk-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P28324-1", "PR:P28324-1", "ENSEMBL:ENSP00000350681", "ENSEMBL:ENSP00000350681.4", "ENSEMBL:ENSP00000483628", "ENSEMBL:ENSP00000483628.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86XL3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and LEM domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XL3-1", "PR:Q86XL3-1", "ENSEMBL:ENSP00000350686", "ENSEMBL:ENSP00000350686.5"], "information_content": 100.0}
{"id": "UniProtKB:P54727-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UV excision repair protein RAD23 homolog B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P54727-1", "PR:P54727-1", "ENSEMBL:ENSP00000350708", "ENSEMBL:ENSP00000350708.3"], "information_content": 100.0}
{"id": "NCBIGene:286319", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUSC1", "equivalent_identifiers": ["NCBIGene:286319", "ENSEMBL:ENSG00000198680", "HGNC:31010", "OMIM:610529", "UMLS:C1540131", "UniProtKB:Q2TAM9", "PR:Q2TAM9", "ENSEMBL:ENSP00000350716", "ENSEMBL:ENSP00000350716.4", "UMLS:C3884352", "MESH:C000591496"], "information_content": 100.0}
{"id": "UniProtKB:O75069-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane and coiled-coil domains protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75069-1", "PR:O75069-1", "ENSEMBL:ENSP00000350718", "ENSEMBL:ENSP00000350718.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXH0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nesprin-2 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXH0-2", "PR:Q8WXH0-2", "ENSEMBL:ENSP00000350719", "ENSEMBL:ENSP00000350719.3", "ENSEMBL:ENSP00000450831", "ENSEMBL:ENSP00000450831.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDW4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "suppressor of tumorigenicity 7 protein-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDW4-1", "PR:Q8TDW4-1", "ENSEMBL:ENSP00000350734", "ENSEMBL:ENSP00000350734.4"], "information_content": 100.0}
{"id": "NCBIGene:2764", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GMFB", "equivalent_identifiers": ["NCBIGene:2764", "ENSEMBL:ENSG00000197045", "HGNC:4373", "OMIM:601713", "UMLS:C1439342", "UniProtKB:P60983", "PR:P60983", "ENSEMBL:ENSP00000350757", "ENSEMBL:ENSP00000350757.3"], "information_content": 92.8}
{"id": "UniProtKB:Q96FT7-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acid-sensing ion channel 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96FT7-4", "PR:Q96FT7-4", "ENSEMBL:ENSP00000350786", "ENSEMBL:ENSP00000350786.5"], "information_content": 100.0}
{"id": "UniProtKB:P08235-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mineralocorticoid receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08235-1", "PR:P08235-1", "ENSEMBL:ENSP00000341390", "ENSEMBL:ENSP00000341390.4", "ENSEMBL:ENSP00000350815", "ENSEMBL:ENSP00000350815.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15777-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metallophosphoesterase MPPED2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15777-1", "PR:Q15777-1", "ENSEMBL:ENSP00000350833", "ENSEMBL:ENSP00000350833.4"], "information_content": 100.0}
{"id": "UniProtKB:Q02548-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paired box protein Pax-5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q02548-1", "PR:Q02548-1", "ENSEMBL:ENSP00000350844", "ENSEMBL:ENSP00000350844.4"], "information_content": 100.0}
{"id": "NCBIGene:79366", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMGN5", "equivalent_identifiers": ["NCBIGene:79366", "ENSEMBL:ENSG00000198157", "HGNC:8013", "OMIM:300385", "UMLS:C1417854", "UniProtKB:P82970", "PR:P82970", "ENSEMBL:ENSP00000350848", "ENSEMBL:ENSP00000350848.2", "UMLS:C1312608", "MESH:C429289"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYS0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Aster-C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYS0-1", "PR:Q8IYS0-1", "ENSEMBL:ENSP00000350881", "ENSEMBL:ENSP00000350881.4"], "information_content": 100.0}
{"id": "MONDO:0002275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized atherosclerosis", "equivalent_identifiers": ["MONDO:0002275", "DOID:2347", "UMLS:C0017327", "MEDDRA:10003603", "MEDDRA:10018104", "MEDDRA:10073905", "NCIT:C35767", "SNOMEDCT:39823006", "medgen:4866", "ICD10:I70.91", "ICD9:440.9"], "information_content": 100.0}
{"id": "UniProtKB:P54760-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin type-B receptor 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P54760-1", "PR:P54760-1", "ENSEMBL:ENSP00000350896", "ENSEMBL:ENSP00000350896.3"], "information_content": 100.0}
{"id": "UniProtKB:P14091-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cathepsin E isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P14091-1", "PR:P14091-1", "ENSEMBL:ENSP00000350911", "ENSEMBL:ENSP00000350911.2"], "information_content": 100.0}
{"id": "UniProtKB:Q99259-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate decarboxylase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99259-1", "PR:Q99259-1", "ENSEMBL:ENSP00000350928", "ENSEMBL:ENSP00000350928.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H5N1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab GTPase-binding effector protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H5N1-1", "PR:Q9H5N1-1", "ENSEMBL:ENSP00000350934", "ENSEMBL:ENSP00000350934.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGI8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGI8-1", "PR:Q9UGI8-1", "ENSEMBL:ENSP00000350937", "ENSEMBL:ENSP00000350937.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96IJ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96IJ6-1", "PR:Q96IJ6-1", "ENSEMBL:ENSP00000315925", "ENSEMBL:ENSP00000315925.6", "ENSEMBL:ENSP00000340760", "ENSEMBL:ENSP00000340760.3", "ENSEMBL:ENSP00000350949", "ENSEMBL:ENSP00000350949.3", "ENSEMBL:ENSP00000363016", "ENSEMBL:ENSP00000363016.1", "ENSEMBL:ENSP00000478700", "ENSEMBL:ENSP00000478700.2", "ENSEMBL:ENSP00000506941", "ENSEMBL:ENSP00000506941.1"], "information_content": 100.0}
{"id": "MONDO:0014746", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SLC39A8-CDG", "equivalent_identifiers": ["MONDO:0014746", "DOID:0070266", "OMIM:616721", "orphanet:468699", "UMLS:C4225234", "SNOMEDCT:1187171005", "medgen:899837"], "information_content": 100.0}
{"id": "MONDO:0013870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TMEM165-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013870", "DOID:0070263", "OMIM:614727", "orphanet:314667", "UMLS:C3553571", "SNOMEDCT:732252005", "medgen:766485"], "information_content": 100.0}
{"id": "MONDO:0014789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "CCDC115-CDG", "equivalent_identifiers": ["MONDO:0014789", "DOID:0070267", "OMIM:616828", "orphanet:468684", "UMLS:C4225191", "SNOMEDCT:1187174002", "medgen:906792"], "information_content": 100.0}
{"id": "MONDO:0010478", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SLC35A2-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0010478", "DOID:0070265", "OMIM:300896", "orphanet:356961", "UMLS:C3806688", "SNOMEDCT:771516000", "medgen:813018"], "information_content": 100.0}
{"id": "MONDO:0014790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "TMEM199-CDG", "equivalent_identifiers": ["MONDO:0014790", "DOID:0070268", "OMIM:616829", "orphanet:466703", "UMLS:C4225190", "SNOMEDCT:1208738002", "medgen:895025"], "information_content": 100.0}
{"id": "UniProtKB:Q96GE9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "distal membrane-arm assembly complex protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96GE9-2", "PR:Q96GE9-2", "ENSEMBL:ENSP00000350961", "ENSEMBL:ENSP00000350961.4"], "information_content": 100.0}
{"id": "NCBIGene:344892", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTP2", "equivalent_identifiers": ["NCBIGene:344892", "ENSEMBL:ENSG00000198471", "HGNC:32486", "OMIM:609138", "UMLS:C1826952", "UniProtKB:Q5QGT7", "PR:Q5QGT7", "ENSEMBL:ENSP00000350976", "ENSEMBL:ENSP00000350976.1", "UMLS:C1531244", "MESH:C495317"], "information_content": 100.0}
{"id": "NCBIGene:150082", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCA5L", "equivalent_identifiers": ["NCBIGene:150082", "ENSEMBL:ENSG00000157578", "HGNC:1255", "UMLS:C2239646", "UniProtKB:O95447", "PR:O95447", "ENSEMBL:ENSP00000288350", "ENSEMBL:ENSP00000288350.3", "ENSEMBL:ENSP00000351008", "ENSEMBL:ENSP00000351008.2", "ENSEMBL:ENSP00000370046", "ENSEMBL:ENSP00000370046.2", "UniProtKB:U3KPS7", "ENSEMBL:ENSP00000475187", "ENSEMBL:ENSP00000475187.1"], "information_content": 100.0}
{"id": "MONDO:0001022", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disuse amblyopia", "equivalent_identifiers": ["MONDO:0001022", "DOID:10378", "UMLS:C0152187", "UMLS:C0152189", "MEDDRA:10001909", "MEDDRA:10012409", "SNOMEDCT:193638002", "medgen:508918", "ICD10:H53.01", "ICD9:368.02"], "information_content": 100.0}
{"id": "UniProtKB:P21359-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurofibromin isoform II (human)", "equivalent_identifiers": ["UniProtKB:P21359-1", "PR:P21359-1", "ENSEMBL:ENSP00000351015", "ENSEMBL:ENSP00000351015.4"], "information_content": 100.0}
{"id": "UniProtKB:P09493-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tropomyosin alpha-1 chain isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:P09493-3", "PR:P09493-3", "ENSEMBL:ENSP00000351022", "ENSEMBL:ENSP00000351022.3"], "information_content": 100.0}
{"id": "MONDO:0008828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jacobs syndrome", "equivalent_identifiers": ["MONDO:0008828", "DOID:0090127", "OMIM:208250", "orphanet:2848", "EFO:0009028", "UMLS:C1859690", "MESH:C537560", "MEDDRA:10083494", "SNOMEDCT:771187008", "medgen:349226"], "information_content": 100.0}
{"id": "NCBIGene:51170", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSD17B11", "equivalent_identifiers": ["NCBIGene:51170", "ENSEMBL:ENSG00000198189", "HGNC:22960", "OMIM:612831", "UMLS:C1825529", "UniProtKB:Q8NBQ5", "PR:Q8NBQ5", "ENSEMBL:ENSP00000351035", "ENSEMBL:ENSP00000351035.4", "UMLS:C1258231", "MESH:C118226"], "information_content": 95.4}
{"id": "NCBIGene:63939", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM217B", "equivalent_identifiers": ["NCBIGene:63939", "ENSEMBL:ENSG00000196227", "HGNC:16170", "UMLS:C3470300", "UniProtKB:B4E2D0", "UniProtKB:Q9NTX9", "PR:Q9NTX9", "ENSEMBL:ENSP00000351040", "ENSEMBL:ENSP00000351040.3", "ENSEMBL:ENSP00000354056", "ENSEMBL:ENSP00000354056.3"], "information_content": 100.0}
{"id": "MONDO:0010758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wieacker-Wolff syndrome", "equivalent_identifiers": ["MONDO:0010758", "DOID:0060815", "OMIM:314580", "orphanet:3454", "orphanet:85283", "UMLS:C0796200", "UMLS:C1839735", "UMLS:C4305025", "MESH:C536703", "SNOMEDCT:719012009", "SNOMEDCT:722456001", "medgen:163227"], "information_content": 100.0}
{"id": "NCBIGene:163227", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF100", "equivalent_identifiers": ["NCBIGene:163227", "ENSEMBL:ENSG00000197020", "HGNC:12880", "OMIM:603982", "UMLS:C1421589", "UniProtKB:Q8IYN0", "PR:Q8IYN0", "ENSEMBL:ENSP00000351042", "ENSEMBL:ENSP00000351042.5", "ENSEMBL:ENSP00000483779", "ENSEMBL:ENSP00000483779.1"], "information_content": 92.8}
{"id": "UniProtKB:Q86WB0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger C3HC-type protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WB0-1", "PR:Q86WB0-1", "ENSEMBL:ENSP00000351052", "ENSEMBL:ENSP00000351052.4"], "information_content": 100.0}
{"id": "UniProtKB:P49238-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CX3C chemokine receptor 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P49238-4", "PR:P49238-4", "ENSEMBL:ENSP00000351059", "ENSEMBL:ENSP00000351059.3"], "information_content": 100.0}
{"id": "NCBIGene:56241", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUSD2", "equivalent_identifiers": ["NCBIGene:56241", "ENSEMBL:ENSG00000099994", "HGNC:30667", "OMIM:615825", "UMLS:C1428987", "UniProtKB:A0A140VJW3", "UMLS:C3657054", "MESH:C582626", "UniProtKB:Q9UGT4", "PR:Q9UGT4", "ENSEMBL:ENSP00000351075", "ENSEMBL:ENSP00000351075.3"], "information_content": 87.2}
{"id": "UniProtKB:O94915-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein furry homolog-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94915-1", "PR:O94915-1", "ENSEMBL:ENSP00000351113", "ENSEMBL:ENSP00000351113.4"], "information_content": 100.0}
{"id": "MONDO:0001737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tetanus neonatorum", "equivalent_identifiers": ["MONDO:0001737", "DOID:13521", "UMLS:C0343312", "MEDDRA:10043378", "NCIT:C116814", "SNOMEDCT:43424001", "medgen:575516", "icd11.foundation:2085616610", "ICD10:A33", "ICD9:771.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXI2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial Rho GTPase 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXI2-3", "PR:Q8IXI2-3", "ENSEMBL:ENSP00000351132", "ENSEMBL:ENSP00000351132.3"], "information_content": 100.0}
{"id": "NCBIGene:56949", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XAB2", "equivalent_identifiers": ["NCBIGene:56949", "ENSEMBL:ENSG00000076924", "HGNC:14089", "OMIM:610850", "UMLS:C1422399", "UniProtKB:Q9HCS7", "PR:Q9HCS7", "ENSEMBL:ENSP00000351137", "ENSEMBL:ENSP00000351137.3", "UMLS:C1309723", "MESH:C417244"], "information_content": 88.2}
{"id": "UniProtKB:Q7L4E1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitoguardin 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L4E1-1", "PR:Q7L4E1-1", "ENSEMBL:ENSP00000351138", "ENSEMBL:ENSP00000351138.4", "ENSEMBL:ENSP00000506871", "ENSEMBL:ENSP00000506871.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15007-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pre-mRNA-splicing regulator WTAP isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15007-1", "PR:Q15007-1", "ENSEMBL:ENSP00000351141", "ENSEMBL:ENSP00000351141.4", "ENSEMBL:ENSP00000479438", "ENSEMBL:ENSP00000479438.1"], "information_content": 100.0}
{"id": "UniProtKB:O00222-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metabotropic glutamate receptor 8 isoform B (human)", "equivalent_identifiers": ["UniProtKB:O00222-2", "PR:O00222-2", "ENSEMBL:ENSP00000351142", "ENSEMBL:ENSP00000351142.3", "ENSEMBL:ENSP00000419832", "ENSEMBL:ENSP00000419832.1", "ENSEMBL:ENSP00000516624", "ENSEMBL:ENSP00000516624.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WV16-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DDB1- and CUL4-associated factor 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WV16-1", "PR:Q8WV16-1", "ENSEMBL:ENSP00000351147", "ENSEMBL:ENSP00000351147.2"], "information_content": 100.0}
{"id": "MONDO:0010213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum group E", "equivalent_identifiers": ["MONDO:0010213", "DOID:0110846", "OMIM:278740", "UMLS:C1848411", "MESH:C564732", "NCIT:C114771", "SNOMEDCT:56048001", "medgen:341219"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXF7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "atlastin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXF7-1", "PR:Q8WXF7-1", "ENSEMBL:ENSP00000351155", "ENSEMBL:ENSP00000351155.7"], "information_content": 100.0}
{"id": "UniProtKB:Q96J42-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin domain-containing protein 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96J42-1", "PR:Q96J42-1", "ENSEMBL:ENSP00000351157", "ENSEMBL:ENSP00000351157.5"], "information_content": 100.0}
{"id": "NCBIGene:4849", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNOT3", "equivalent_identifiers": ["NCBIGene:4849", "ENSEMBL:ENSG00000088038", "HGNC:7879", "OMIM:604910", "UMLS:C1417765", "UniProtKB:O75175", "PR:O75175", "ENSEMBL:ENSP00000221232", "ENSEMBL:ENSP00000221232.5", "ENSEMBL:ENSP00000351159", "ENSEMBL:ENSP00000351159.4", "ENSEMBL:ENSP00000478280", "ENSEMBL:ENSP00000478280.1", "ENSEMBL:ENSP00000478956", "ENSEMBL:ENSP00000478956.1", "ENSEMBL:ENSP00000479987", "ENSEMBL:ENSP00000479987.1", "ENSEMBL:ENSP00000480258", "ENSEMBL:ENSP00000480258.1", "ENSEMBL:ENSP00000480585", "ENSEMBL:ENSP00000480585.1", "ENSEMBL:ENSP00000480697", "ENSEMBL:ENSP00000480697.1", "ENSEMBL:ENSP00000480876", "ENSEMBL:ENSP00000480876.1", "ENSEMBL:ENSP00000480988", "ENSEMBL:ENSP00000480988.1", "ENSEMBL:ENSP00000481681", "ENSEMBL:ENSP00000481681.1", "ENSEMBL:ENSP00000481924", "ENSEMBL:ENSP00000481924.1", "ENSEMBL:ENSP00000483036", "ENSEMBL:ENSP00000483036.1", "ENSEMBL:ENSP00000483431", "ENSEMBL:ENSP00000483431.1", "ENSEMBL:ENSP00000483604", "ENSEMBL:ENSP00000483604.1", "ENSEMBL:ENSP00000483692", "ENSEMBL:ENSP00000483692.1", "ENSEMBL:ENSP00000483882", "ENSEMBL:ENSP00000483882.1", "ENSEMBL:ENSP00000483968", "ENSEMBL:ENSP00000483968.1", "ENSEMBL:ENSP00000484040", "ENSEMBL:ENSP00000484040.1", "ENSEMBL:ENSP00000484794", "ENSEMBL:ENSP00000484794.1", "UMLS:C1144113", "UMLS:C3831172", "MESH:C466622"], "information_content": 95.4}
{"id": "UniProtKB:P51530-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA replication ATP-dependent helicase/nuclease DNA2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51530-1", "PR:P51530-1", "ENSEMBL:ENSP00000351185", "ENSEMBL:ENSP00000351185.3"], "information_content": 100.0}
{"id": "NCBIGene:3698", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITIH2", "equivalent_identifiers": ["NCBIGene:3698", "ENSEMBL:ENSG00000151655", "HGNC:6167", "OMIM:146640", "UMLS:C1416507", "UniProtKB:P19823", "PR:P19823", "ENSEMBL:ENSP00000351190", "ENSEMBL:ENSP00000351190.4", "UMLS:C1453111"], "information_content": 75.3}
{"id": "NCBIGene:167838", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TXLNB", "equivalent_identifiers": ["NCBIGene:167838", "ENSEMBL:ENSG00000164440", "HGNC:21617", "OMIM:611438", "UMLS:C1823558", "UniProtKB:Q8N3L3", "PR:Q8N3L3", "ENSEMBL:ENSP00000351206", "ENSEMBL:ENSP00000351206.3", "UMLS:C1454609", "MESH:C508883"], "information_content": 100.0}
{"id": "MONDO:0010176", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome type 6", "equivalent_identifiers": ["MONDO:0010176", "DOID:0060376", "OMIM:277170", "orphanet:2754", "UMLS:C2745997", "MESH:C536531", "NCIT:C124841", "SNOMEDCT:721873007", "medgen:411200"], "information_content": 100.0}
{"id": "UniProtKB:Q9BY89-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein KIAA1671 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY89-1", "PR:Q9BY89-1", "ENSEMBL:ENSP00000351207", "ENSEMBL:ENSP00000351207.3", "ENSEMBL:ENSP00000385152", "ENSEMBL:ENSP00000385152.3"], "information_content": 100.0}
{"id": "UniProtKB:P29317-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin type-A receptor 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P29317-1", "PR:P29317-1", "ENSEMBL:ENSP00000351209", "ENSEMBL:ENSP00000351209.5"], "information_content": 100.0}
{"id": "NCBIGene:54543", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOMM7", "equivalent_identifiers": ["NCBIGene:54543", "ENSEMBL:ENSG00000196683", "HGNC:21648", "OMIM:607980", "UMLS:C1427672", "UniProtKB:Q75MR5", "UMLS:C1438836", "MESH:C405562", "UniProtKB:Q9P0U1", "PR:Q9P0U1", "ENSEMBL:ENSP00000351214", "ENSEMBL:ENSP00000351214.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9HCR9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCR9-2", "PR:Q9HCR9-2", "ENSEMBL:ENSP00000351232", "ENSEMBL:ENSP00000351232.4"], "information_content": 100.0}
{"id": "NCBIGene:317701", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VN1R2", "equivalent_identifiers": ["NCBIGene:317701", "ENSEMBL:ENSG00000196131", "HGNC:19872", "UMLS:C1426497", "UniProtKB:Q8NFZ6", "PR:Q8NFZ6", "ENSEMBL:ENSP00000351244", "ENSEMBL:ENSP00000351244.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPN9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM33 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q9UPN9-1", "PR:Q9UPN9-1", "ENSEMBL:ENSP00000351250", "ENSEMBL:ENSP00000351250.2"], "information_content": 100.0}
{"id": "MONDO:0013551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 47", "equivalent_identifiers": ["MONDO:0013551", "DOID:0110799", "OMIM:614066", "UMLS:C3279738", "NCIT:C164224", "medgen:481368"], "information_content": 100.0}
{"id": "NCBIGene:6775", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STAT4", "equivalent_identifiers": ["NCBIGene:6775", "ENSEMBL:ENSG00000138378", "HGNC:11365", "OMIM:600558", "UMLS:C1335874", "UniProtKB:Q14765", "PR:Q14765", "ENSEMBL:ENSP00000351255", "ENSEMBL:ENSP00000351255.4", "ENSEMBL:ENSP00000376134", "ENSEMBL:ENSP00000376134.2", "ENSEMBL:ENSP00000412397", "ENSEMBL:ENSP00000412397.2", "ENSEMBL:ENSP00000414322", "ENSEMBL:ENSP00000414322.2", "UMLS:C1530119", "MESH:C494090"], "information_content": 90.9}
{"id": "UniProtKB:Q14790-9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase-8 isoform 9 (human)", "equivalent_identifiers": ["UniProtKB:Q14790-9", "PR:Q14790-9", "ENSEMBL:ENSP00000351273", "ENSEMBL:ENSP00000351273.4"], "information_content": 100.0}
{"id": "NCBIGene:353088", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF429", "equivalent_identifiers": ["NCBIGene:353088", "ENSEMBL:ENSG00000197013", "HGNC:20817", "OMIM:621242", "UMLS:C1427147", "UniProtKB:Q86V71", "PR:Q86V71", "ENSEMBL:ENSP00000351280", "ENSEMBL:ENSP00000351280.3", "UMLS:C4553928"], "information_content": 95.4}
{"id": "UniProtKB:P43351-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA repair protein RAD52 homolog isoform alpha (human)", "equivalent_identifiers": ["UniProtKB:P43351-1", "PR:P43351-1", "ENSEMBL:ENSP00000351284", "ENSEMBL:ENSP00000351284.3", "ENSEMBL:ENSP00000387901", "ENSEMBL:ENSP00000387901.2"], "information_content": 100.0}
{"id": "UniProtKB:A6NMZ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-6(VI) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NMZ7-1", "PR:A6NMZ7-1", "ENSEMBL:ENSP00000351310", "ENSEMBL:ENSP00000351310.6"], "information_content": 100.0}
{"id": "NCBIGene:5699", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMB10", "equivalent_identifiers": ["NCBIGene:5699", "ENSEMBL:ENSG00000205220", "HGNC:9538", "OMIM:176847", "UMLS:C1419011", "UniProtKB:P40306", "PR:P40306", "ENSEMBL:ENSP00000351314", "ENSEMBL:ENSP00000351314.4", "UMLS:C0388576", "MESH:C098948"], "information_content": 89.4}
{"id": "NCBIGene:57480", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLEKHG1", "equivalent_identifiers": ["NCBIGene:57480", "ENSEMBL:ENSG00000120278", "HGNC:20884", "OMIM:620134", "UMLS:C1427189", "UniProtKB:Q5JYA6", "UMLS:C5197046", "MESH:C000630797", "UniProtKB:Q9ULL1", "PR:Q9ULL1", "ENSEMBL:ENSP00000351318", "ENSEMBL:ENSP00000351318.2", "ENSEMBL:ENSP00000496254", "ENSEMBL:ENSP00000496254.1", "ENSEMBL:ENSP00000512689", "ENSEMBL:ENSP00000512689.1"], "information_content": 95.4}
{"id": "UniProtKB:Q6UY27-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostate and testis expressed protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UY27-1", "PR:Q6UY27-1", "ENSEMBL:ENSP00000351325", "ENSEMBL:ENSP00000351325.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5JQC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-kinase anchor protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JQC9-1", "PR:Q5JQC9-1", "ENSEMBL:ENSP00000351327", "ENSEMBL:ENSP00000351327.2"], "information_content": 100.0}
{"id": "UniProtKB:O43157-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plexin-B1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43157-1", "PR:O43157-1", "ENSEMBL:ENSP00000296440", "ENSEMBL:ENSP00000296440.6", "ENSEMBL:ENSP00000351338", "ENSEMBL:ENSP00000351338.4"], "information_content": 95.4}
{"id": "UniProtKB:P54829-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein phosphatase non-receptor type 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P54829-1", "PR:P54829-1", "ENSEMBL:ENSP00000351342", "ENSEMBL:ENSP00000351342.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXT8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ALK and LTK ligand 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXT8-1", "PR:Q6UXT8-1", "ENSEMBL:ENSP00000351345", "ENSEMBL:ENSP00000351345.4"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z7G8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intermembrane lipid transfer protein VPS13B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z7G8-1", "PR:Q7Z7G8-1", "ENSEMBL:ENSP00000351346", "ENSEMBL:ENSP00000351346.2"], "information_content": 100.0}
{"id": "NCBIGene:345456", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PFN3", "equivalent_identifiers": ["NCBIGene:345456", "ENSEMBL:ENSG00000196570", "HGNC:18627", "OMIM:612812", "UMLS:C1826569", "UniProtKB:P60673", "PR:P60673", "ENSEMBL:ENSP00000351379", "ENSEMBL:ENSP00000351379.2"], "information_content": 95.4}
{"id": "NCBIGene:404552", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCGB1D4", "equivalent_identifiers": ["NCBIGene:404552", "ENSEMBL:ENSG00000197745", "HGNC:31748", "OMIM:615062", "UMLS:C1822654", "UniProtKB:Q6XE38", "PR:Q6XE38", "ENSEMBL:ENSP00000351395", "ENSEMBL:ENSP00000351395.1", "UMLS:C1454551", "MESH:C556466"], "information_content": 100.0}
{"id": "UniProtKB:P27540-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aryl hydrocarbon receptor nuclear translocator isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P27540-1", "PR:P27540-1", "ENSEMBL:ENSP00000351407", "ENSEMBL:ENSP00000351407.5"], "information_content": 100.0}
{"id": "UniProtKB:O75179-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75179-1", "PR:O75179-1", "ENSEMBL:ENSP00000351416", "ENSEMBL:ENSP00000351416.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96EN9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "required for excision 1-B domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EN9-1", "PR:Q96EN9-1", "ENSEMBL:ENSP00000351422", "ENSEMBL:ENSP00000351422.5"], "information_content": 100.0}
{"id": "NCBIGene:2996", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GYPE", "equivalent_identifiers": ["NCBIGene:2996", "ENSEMBL:ENSG00000197465", "HGNC:4705", "OMIM:138590", "UMLS:C1415376", "UniProtKB:P15421", "PR:P15421", "ENSEMBL:ENSP00000351430", "ENSEMBL:ENSP00000351430.4", "ENSEMBL:ENSP00000400698", "ENSEMBL:ENSP00000400698.2", "UMLS:C5543954", "MESH:C000715507"], "information_content": 100.0}
{"id": "NCBIGene:11091", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR5", "equivalent_identifiers": ["NCBIGene:11091", "ENSEMBL:ENSG00000196363", "HGNC:12757", "OMIM:609012", "UMLS:C1421496", "UniProtKB:P61964", "PR:P61964", "ENSEMBL:ENSP00000351446", "ENSEMBL:ENSP00000351446.3", "UMLS:C1610219", "MESH:C502547"], "information_content": 90.9}
{"id": "NCBIGene:81050", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5AC2", "equivalent_identifiers": ["NCBIGene:81050", "ENSEMBL:ENSG00000196578", "HGNC:15431", "UMLS:C1423485", "UniProtKB:Q9NZP5", "PR:Q9NZP5", "ENSEMBL:ENSP00000351466", "ENSEMBL:ENSP00000351466.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96F15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTPase IMAP family member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96F15-1", "PR:Q96F15-1", "ENSEMBL:ENSP00000351473", "ENSEMBL:ENSP00000351473.3", "ENSEMBL:ENSP00000487840", "ENSEMBL:ENSP00000487840.2"], "information_content": 100.0}
{"id": "MONDO:0011213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pierpont syndrome", "equivalent_identifiers": ["MONDO:0011213", "DOID:0081362", "OMIM:602342", "orphanet:487825", "UMLS:C1865644", "MESH:C566559", "SNOMEDCT:1220594007", "medgen:356049"], "information_content": 100.0}
{"id": "UniProtKB:Q96RG2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PAS domain-containing serine/threonine-protein kinase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96RG2-2", "PR:Q96RG2-2", "ENSEMBL:ENSP00000351475", "ENSEMBL:ENSP00000351475.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQQ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aminopeptidase NAALADL1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQQ1-1", "PR:Q9UQQ1-1", "ENSEMBL:ENSP00000351484", "ENSEMBL:ENSP00000351484.3"], "information_content": 100.0}
{"id": "UniProtKB:P61244-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein max isoform long (human)", "equivalent_identifiers": ["UniProtKB:P61244-1", "PR:P61244-1", "ENSEMBL:ENSP00000351490", "ENSEMBL:ENSP00000351490.4"], "information_content": 95.4}
{"id": "UniProtKB:P31994-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "low affinity immunoglobulin gamma Fc region receptor II-b isoform hIIB1 (human)", "equivalent_identifiers": ["UniProtKB:P31994-1", "PR:P31994-1", "ENSEMBL:ENSP00000351497", "ENSEMBL:ENSP00000351497.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y227-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ectonucleoside triphosphate diphosphohydrolase 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y227-1", "PR:Q9Y227-1", "ENSEMBL:ENSP00000351520", "ENSEMBL:ENSP00000351520.4"], "information_content": 100.0}
{"id": "NCBIGene:7789", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZXDA", "equivalent_identifiers": ["NCBIGene:7789", "ENSEMBL:ENSG00000198205", "HGNC:13198", "OMIM:300235", "UMLS:C1421872", "UniProtKB:P98168", "PR:P98168", "ENSEMBL:ENSP00000351530", "ENSEMBL:ENSP00000351530.4", "UMLS:C1958422", "MESH:C521135"], "information_content": 100.0}
{"id": "NCBIGene:169714", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "QSOX2", "equivalent_identifiers": ["NCBIGene:169714", "ENSEMBL:ENSG00000165661", "HGNC:30249", "OMIM:612860", "UMLS:C1428946", "UniProtKB:Q6ZRP7", "PR:Q6ZRP7", "ENSEMBL:ENSP00000351536", "ENSEMBL:ENSP00000351536.5", "UMLS:C1434518", "UMLS:C4761413", "MESH:C481160"], "information_content": 88.2}
{"id": "UniProtKB:Q99592-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and BTB domain-containing protein 18 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99592-2", "PR:Q99592-2", "ENSEMBL:ENSP00000351539", "ENSEMBL:ENSP00000351539.4"], "information_content": 100.0}
{"id": "UniProtKB:A6H8Y1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor TFIIIB component B'' homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6H8Y1-1", "PR:A6H8Y1-1", "ENSEMBL:ENSP00000351575", "ENSEMBL:ENSP00000351575.4", "ENSEMBL:ENSP00000482469", "ENSEMBL:ENSP00000482469.1"], "information_content": 100.0}
{"id": "UniProtKB:P0C0S8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H2A1_HUMAN Histone H2A type 1 (sprot)", "equivalent_identifiers": ["UniProtKB:P0C0S8", "PR:P0C0S8", "ENSEMBL:ENSP00000351589", "ENSEMBL:ENSP00000351589.3", "ENSEMBL:ENSP00000352119", "ENSEMBL:ENSP00000352119.2", "ENSEMBL:ENSP00000352627", "ENSEMBL:ENSP00000352627.3", "ENSEMBL:ENSP00000482431", "ENSEMBL:ENSP00000482431.2", "ENSEMBL:ENSP00000482538", "ENSEMBL:ENSP00000482538.2", "ENSEMBL:ENSP00000520538", "ENSEMBL:ENSP00000520538.1", "ENSEMBL:ENSP00000520791", "ENSEMBL:ENSP00000520791.1", "UMLS:C5203067"], "information_content": 79.0}
{"id": "UniProtKB:Q9NZ94-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuroligin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZ94-1", "PR:Q9NZ94-1", "ENSEMBL:ENSP00000351591", "ENSEMBL:ENSP00000351591.4"], "information_content": 100.0}
{"id": "UniProtKB:P22083-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-(1,3)-fucosyltransferase 4 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P22083-1", "PR:P22083-1", "ENSEMBL:ENSP00000351602", "ENSEMBL:ENSP00000351602.2"], "information_content": 100.0}
{"id": "UniProtKB:O60353-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "frizzled-6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60353-1", "PR:O60353-1", "ENSEMBL:ENSP00000351605", "ENSEMBL:ENSP00000351605.4", "ENSEMBL:ENSP00000429055", "ENSEMBL:ENSP00000429055.1"], "information_content": 100.0}
{"id": "NCBIGene:8224", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYN3", "equivalent_identifiers": ["NCBIGene:8224", "ENSEMBL:ENSG00000185666", "HGNC:11496", "OMIM:602705", "UMLS:C1420545", "UniProtKB:O14994", "PR:O14994", "ENSEMBL:ENSP00000351614", "ENSEMBL:ENSP00000351614.2", "UMLS:C0673937", "MESH:C111812", "UniProtKB:Q17R54", "UniProtKB:Q59EX7"], "information_content": 100.0}
{"id": "UniProtKB:P30039-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phenazine biosynthesis-like domain-containing protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P30039-1", "PR:P30039-1", "ENSEMBL:ENSP00000308466", "ENSEMBL:ENSP00000308466.4", "ENSEMBL:ENSP00000351619", "ENSEMBL:ENSP00000351619.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5HYJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM76B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5HYJ3-1", "PR:Q5HYJ3-1", "ENSEMBL:ENSP00000351631", "ENSEMBL:ENSP00000351631.5"], "information_content": 100.0}
{"id": "NCBIGene:131177", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM3D", "equivalent_identifiers": ["NCBIGene:131177", "ENSEMBL:ENSG00000198643", "HGNC:18665", "OMIM:608619", "UMLS:C1425691", "UniProtKB:A0A0A8K9B4", "UMLS:C2976684", "MESH:C553191", "UniProtKB:Q96BQ1", "PR:Q96BQ1", "ENSEMBL:ENSP00000351632", "ENSEMBL:ENSP00000351632.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDM0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "breast carcinoma-amplified sequence 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDM0-1", "PR:Q8TDM0-1", "ENSEMBL:ENSP00000351642", "ENSEMBL:ENSP00000351642.5"], "information_content": 100.0}
{"id": "UniProtKB:Q969Y2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA modification GTPase GTPBP3, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q969Y2-2", "PR:Q969Y2-2", "ENSEMBL:ENSP00000351644", "ENSEMBL:ENSP00000351644.6"], "information_content": 100.0}
{"id": "UniProtKB:P31948-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stress-induced-phosphoprotein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P31948-2", "PR:P31948-2", "ENSEMBL:ENSP00000351646", "ENSEMBL:ENSP00000351646.5"], "information_content": 100.0}
{"id": "NCBIGene:79694", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MANEA", "equivalent_identifiers": ["NCBIGene:79694", "ENSEMBL:ENSG00000172469", "HGNC:21072", "OMIM:612327", "UMLS:C1427293", "UniProtKB:Q5SRI9", "PR:Q5SRI9", "ENSEMBL:ENSP00000351669", "ENSEMBL:ENSP00000351669.4", "ENSEMBL:ENSP00000506887", "ENSEMBL:ENSP00000506887.1", "ENSEMBL:ENSP00000507267", "ENSEMBL:ENSP00000507267.1", "UMLS:C1613378", "MESH:C505100"], "information_content": 92.8}
{"id": "UniProtKB:P78556-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-C motif chemokine 20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78556-1", "PR:P78556-1", "ENSEMBL:ENSP00000351671", "ENSEMBL:ENSP00000351671.4"], "information_content": 100.0}
{"id": "NCBIGene:84735", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNDP1", "equivalent_identifiers": ["NCBIGene:84735", "ENSEMBL:ENSG00000150656", "HGNC:20675", "OMIM:609064", "UMLS:C1539109", "UniProtKB:Q96KN2", "PR:Q96KN2", "ENSEMBL:ENSP00000351682", "ENSEMBL:ENSP00000351682.3", "UMLS:C1999721", "MESH:C522928"], "information_content": 86.3}
{"id": "UniProtKB:Q9NQV6-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PR domain zinc finger protein 10 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQV6-7", "PR:Q9NQV6-7", "ENSEMBL:ENSP00000351686", "ENSEMBL:ENSP00000351686.5"], "information_content": 100.0}
{"id": "UniProtKB:O60673-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA polymerase zeta catalytic subunit isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60673-1", "PR:O60673-1", "ENSEMBL:ENSP00000351697", "ENSEMBL:ENSP00000351697.3", "ENSEMBL:ENSP00000357792", "ENSEMBL:ENSP00000357792.3"], "information_content": 100.0}
{"id": "MONDO:0013961", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 16 with or without anosmia", "equivalent_identifiers": ["MONDO:0013961", "DOID:0090080", "OMIM:614897", "UMLS:C3554021", "medgen:766935"], "information_content": 100.0}
{"id": "NCBIGene:2712", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GK2", "equivalent_identifiers": ["NCBIGene:2712", "ENSEMBL:ENSG00000196475", "HGNC:4291", "OMIM:600148", "UMLS:C1415084", "UniProtKB:A0A140VKG0", "UniProtKB:Q14410", "PR:Q14410", "ENSEMBL:ENSP00000351706", "ENSEMBL:ENSP00000351706.3"], "information_content": 100.0}
{"id": "MONDO:0010399", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome Xp21 deletion syndrome", "equivalent_identifiers": ["MONDO:0010399", "DOID:0060427", "OMIM:300679", "orphanet:261476", "UMLS:C4505291", "SNOMEDCT:1295529002", "SNOMEDCT:297257004", "medgen:1373978", "ICD10:Q99.8"], "information_content": 100.0}
{"id": "NCBIGene:196477", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCER1", "equivalent_identifiers": ["NCBIGene:196477", "ENSEMBL:ENSG00000197651", "HGNC:28373", "OMIM:620881", "UMLS:C1539023", "UniProtKB:Q8TC90", "PR:Q8TC90", "ENSEMBL:ENSP00000351727", "ENSEMBL:ENSP00000351727.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDI7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane channel-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDI7-1", "PR:Q8TDI7-1", "ENSEMBL:ENSP00000351732", "ENSEMBL:ENSP00000351732.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complex I assembly factor TMEM126B, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUX1-1", "PR:Q8IUX1-1", "ENSEMBL:ENSP00000351737", "ENSEMBL:ENSP00000351737.7"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWE2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein NOXP20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWE2-1", "PR:Q8IWE2-1", "ENSEMBL:ENSP00000351740", "ENSEMBL:ENSP00000351740.2"], "information_content": 100.0}
{"id": "NCBIGene:7942", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TFEB", "equivalent_identifiers": ["NCBIGene:7942", "ENSEMBL:ENSG00000112561", "HGNC:11753", "OMIM:600744", "UMLS:C1420699", "UniProtKB:B0QYS6", "ENSEMBL:ENSP00000351742", "ENSEMBL:ENSP00000351742.2", "UniProtKB:P19484", "PR:P19484", "UMLS:C1448629", "MESH:C064972"]}
{"id": "UniProtKB:Q9P218-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XX) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P218-1", "PR:Q9P218-1", "ENSEMBL:ENSP00000351767", "ENSEMBL:ENSP00000351767.6"], "information_content": 100.0}
{"id": "NCBIGene:7415", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VCP", "equivalent_identifiers": ["NCBIGene:7415", "ENSEMBL:ENSG00000165280", "HGNC:12666", "OMIM:601023", "UMLS:C1421437", "UniProtKB:C9JUP7", "ENSEMBL:ENSP00000392088", "ENSEMBL:ENSP00000392088.2", "ENSEMBL:ENSP00000399456", "ENSEMBL:ENSP00000399456.2", "ENSEMBL:ENSP00000503426", "ENSEMBL:ENSP00000503426.1", "UniProtKB:P55072", "PR:P55072", "ENSEMBL:ENSP00000351777", "ENSEMBL:ENSP00000351777.6", "UMLS:C0912533", "UMLS:C1613884", "MESH:C000614178", "MESH:C404942"], "information_content": 84.8}
{"id": "NCBIGene:57162", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PELI1", "equivalent_identifiers": ["NCBIGene:57162", "ENSEMBL:ENSG00000197329", "HGNC:8827", "OMIM:614797", "UMLS:C1418453", "UniProtKB:Q53T26", "UMLS:C1450096", "MESH:C485959", "UniProtKB:Q96FA3", "PR:Q96FA3", "ENSEMBL:ENSP00000351789", "ENSEMBL:ENSP00000351789.4"], "information_content": 87.2}
{"id": "UniProtKB:Q86TC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myopalladin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86TC9-1", "PR:Q86TC9-1", "ENSEMBL:ENSP00000351790", "ENSEMBL:ENSP00000351790.5", "ENSEMBL:ENSP00000480757", "ENSEMBL:ENSP00000480757.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6P2E9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "enhancer of mRNA-decapping protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P2E9-1", "PR:Q6P2E9-1", "ENSEMBL:ENSP00000351811", "ENSEMBL:ENSP00000351811.5"], "information_content": 100.0}
{"id": "NCBIGene:54708", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MARCHF5", "equivalent_identifiers": ["NCBIGene:54708", "ENSEMBL:ENSG00000198060", "HGNC:26025", "OMIM:610637", "UMLS:C1537660", "UniProtKB:Q9NX47", "PR:Q9NX47", "ENSEMBL:ENSP00000351813", "ENSEMBL:ENSP00000351813.2", "UMLS:C1869477", "MESH:C515578"], "information_content": 95.4}
{"id": "UniProtKB:Q9H2M9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab3 GTPase-activating protein non-catalytic subunit isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2M9-1", "PR:Q9H2M9-1", "ENSEMBL:ENSP00000351832", "ENSEMBL:ENSP00000351832.2"], "information_content": 100.0}
{"id": "NCBIGene:64663", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPANXC", "equivalent_identifiers": ["NCBIGene:64663", "ENSEMBL:ENSG00000198573", "HGNC:14331", "OMIM:300330", "UMLS:C1422569", "UniProtKB:Q9NY87", "PR:Q9NY87", "ENSEMBL:ENSP00000351884", "ENSEMBL:ENSP00000351884.2", "UMLS:C1438681", "UMLS:C2985373", "MESH:C403097"], "information_content": 100.0}
{"id": "UniProtKB:P37173-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TGF-beta receptor type-2 isoform RII-2 (human)", "equivalent_identifiers": ["UniProtKB:P37173-2", "PR:P37173-2", "ENSEMBL:ENSP00000351905", "ENSEMBL:ENSP00000351905.4"], "information_content": 100.0}
{"id": "UniProtKB:Q99683-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99683-1", "PR:Q99683-1", "ENSEMBL:ENSP00000351908", "ENSEMBL:ENSP00000351908.4"], "information_content": 100.0}
{"id": "UniProtKB:O95782-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-2 complex subunit alpha-1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:O95782-1", "PR:O95782-1", "ENSEMBL:ENSP00000351926", "ENSEMBL:ENSP00000351926.4"], "information_content": 100.0}
{"id": "NCBIGene:55958", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHL9", "equivalent_identifiers": ["NCBIGene:55958", "ENSEMBL:ENSG00000198642", "HGNC:18732", "OMIM:611201", "UMLS:C1425746", "UniProtKB:Q58EZ4", "UMLS:C4042476", "MESH:C000595806", "UniProtKB:Q9P2J3", "PR:Q9P2J3", "ENSEMBL:ENSP00000351933", "ENSEMBL:ENSP00000351933.4", "ENSEMBL:ENSP00000520799", "ENSEMBL:ENSP00000520799.1", "ENSEMBL:ENSP00000520800", "ENSEMBL:ENSP00000520800.1"], "information_content": 89.4}
{"id": "MONDO:0011362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, myofibrillar, 9, with early respiratory failure", "equivalent_identifiers": ["MONDO:0011362", "DOID:0111188", "OMIM:603689", "orphanet:178464", "EFO:0010828", "UMLS:C1863599", "MESH:C564377", "MESH:C566343", "SNOMEDCT:702373006", "medgen:350930"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSJ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial nucleoid-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSJ5-1", "PR:Q9BSJ5-1", "ENSEMBL:ENSP00000351937", "ENSEMBL:ENSP00000351937.2", "ENSEMBL:ENSP00000440551", "ENSEMBL:ENSP00000440551.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H4L7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4L7-2", "PR:Q9H4L7-2", "ENSEMBL:ENSP00000351947", "ENSEMBL:ENSP00000351947.4", "ENSEMBL:ENSP00000415576", "ENSEMBL:ENSP00000415576.2"], "information_content": 100.0}
{"id": "NCBIGene:5139", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDE3A", "equivalent_identifiers": ["NCBIGene:5139", "ENSEMBL:ENSG00000172572", "HGNC:8778", "OMIM:123805", "UMLS:C1418418", "UniProtKB:Q14432", "PR:Q14432", "ENSEMBL:ENSP00000351957", "ENSEMBL:ENSP00000351957.3", "UMLS:C1568568", "MESH:C517287"], "information_content": 100.0}
{"id": "NCBIGene:389376", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SFTA2", "equivalent_identifiers": ["NCBIGene:389376", "ENSEMBL:ENSG00000196260", "HGNC:18386", "UMLS:C2680373", "UniProtKB:A0A1U9X8K0", "UniProtKB:Q6UW10", "PR:Q6UW10", "ENSEMBL:ENSP00000351989", "ENSEMBL:ENSP00000351989.3", "ENSEMBL:ENSP00000373031", "ENSEMBL:ENSP00000373031.4", "ENSEMBL:ENSP00000390291", "ENSEMBL:ENSP00000390291.2", "ENSEMBL:ENSP00000398777", "ENSEMBL:ENSP00000398777.2", "ENSEMBL:ENSP00000407762", "ENSEMBL:ENSP00000407762.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13564-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NEDD8-activating enzyme E1 regulatory subunit isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q13564-4", "PR:Q13564-4", "ENSEMBL:ENSP00000351990", "ENSEMBL:ENSP00000351990.4"], "information_content": 100.0}
{"id": "UniProtKB:O43497-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent T-type calcium channel subunit alpha-1G isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:O43497-1", "PR:O43497-1", "ENSEMBL:ENSP00000352011", "ENSEMBL:ENSP00000352011.5"], "information_content": 100.0}
{"id": "UniProtKB:O43526-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium voltage-gated channel subfamily KQT member 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43526-1", "PR:O43526-1", "ENSEMBL:ENSP00000352035", "ENSEMBL:ENSP00000352035.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7RTR2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NLR family CARD domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTR2-1", "PR:Q7RTR2-1", "ENSEMBL:ENSP00000352039", "ENSEMBL:ENSP00000352039.6"], "information_content": 100.0}
{"id": "UniProtKB:O00308-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00308-1", "PR:O00308-1", "ENSEMBL:ENSP00000352069", "ENSEMBL:ENSP00000352069.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86VB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "scavenger receptor cysteine-rich type 1 protein M130 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VB7-1", "PR:Q86VB7-1", "ENSEMBL:ENSP00000352071", "ENSEMBL:ENSP00000352071.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96J84-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kin of IRRE-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96J84-1", "PR:Q96J84-1", "ENSEMBL:ENSP00000352138", "ENSEMBL:ENSP00000352138.6"], "information_content": 100.0}
{"id": "UniProtKB:Q14576-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ELAV-like protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14576-1", "PR:Q14576-1", "ENSEMBL:ENSP00000352162", "ENSEMBL:ENSP00000352162.1"], "information_content": 100.0}
{"id": "NCBIGene:137797", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LYPD2", "equivalent_identifiers": ["NCBIGene:137797", "ENSEMBL:ENSG00000197353", "HGNC:25215", "UMLS:C1537629", "UniProtKB:F1T0L0", "UniProtKB:Q6UXB3", "PR:Q6UXB3", "ENSEMBL:ENSP00000352163", "ENSEMBL:ENSP00000352163.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N8R3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial basic amino acids transporter isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8R3-1", "PR:Q8N8R3-1", "ENSEMBL:ENSP00000352167", "ENSEMBL:ENSP00000352167.3"], "information_content": 100.0}
{"id": "NCBIGene:10761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLAC1", "equivalent_identifiers": ["NCBIGene:10761", "ENSEMBL:ENSG00000170965", "HGNC:9044", "OMIM:300296", "UMLS:C1418628", "UniProtKB:Q9HBJ0", "PR:Q9HBJ0", "ENSEMBL:ENSP00000352173", "ENSEMBL:ENSP00000352173.4", "UMLS:C0961895", "MESH:C415583"], "information_content": 100.0}
{"id": "NCBIGene:5253", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHF2", "equivalent_identifiers": ["NCBIGene:5253", "ENSEMBL:ENSG00000197724", "HGNC:8920", "OMIM:604351", "UMLS:C1418528", "UniProtKB:O75151", "PR:O75151", "ENSEMBL:ENSP00000352185", "ENSEMBL:ENSP00000352185.4", "UMLS:C0764697", "MESH:C117905"], "information_content": 95.4}
{"id": "UniProtKB:Q9NZM1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myoferlin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZM1-1", "PR:Q9NZM1-1", "ENSEMBL:ENSP00000352208", "ENSEMBL:ENSP00000352208.4"], "information_content": 100.0}
{"id": "NCBIGene:81031", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC2A10", "equivalent_identifiers": ["NCBIGene:81031", "ENSEMBL:ENSG00000197496", "HGNC:13444", "OMIM:606145", "UMLS:C1421996", "UniProtKB:O95528", "PR:O95528", "ENSEMBL:ENSP00000352216", "ENSEMBL:ENSP00000352216.2", "UMLS:C0967709", "MESH:C430746"], "information_content": 90.9}
{"id": "NCBIGene:440077", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF705A", "equivalent_identifiers": ["NCBIGene:440077", "ENSEMBL:ENSG00000196946", "HGNC:32281", "UMLS:C1824004", "UniProtKB:Q6ZN79", "PR:Q6ZN79", "ENSEMBL:ENSP00000352233", "ENSEMBL:ENSP00000352233.4", "ENSEMBL:ENSP00000379816", "ENSEMBL:ENSP00000379816.4", "ENSEMBL:ENSP00000481663", "ENSEMBL:ENSP00000481663.1"], "information_content": 100.0}
{"id": "NCBIGene:11199", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANXA10", "equivalent_identifiers": ["NCBIGene:11199", "ENSEMBL:ENSG00000109511", "HGNC:534", "OMIM:608008", "UMLS:C1412418", "UniProtKB:Q9UJ72", "PR:Q9UJ72", "ENSEMBL:ENSP00000352248", "ENSEMBL:ENSP00000352248.3", "UMLS:C1434407", "MESH:C121387"], "information_content": 95.4}
{"id": "UniProtKB:P68431", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Histone H3.1", "equivalent_identifiers": ["UniProtKB:P68431", "PR:P68431", "ENSEMBL:ENSP00000352252", "ENSEMBL:ENSP00000352252.3", "ENSEMBL:ENSP00000358160", "ENSEMBL:ENSP00000358160.2", "ENSEMBL:ENSP00000366999", "ENSEMBL:ENSP00000366999.2", "ENSEMBL:ENSP00000480826", "ENSEMBL:ENSP00000480826.2", "ENSEMBL:ENSP00000482271", "ENSEMBL:ENSP00000482271.1", "ENSEMBL:ENSP00000483283", "ENSEMBL:ENSP00000483283.2", "ENSEMBL:ENSP00000484095", "ENSEMBL:ENSP00000484095.2", "ENSEMBL:ENSP00000484638", "ENSEMBL:ENSP00000484638.1", "ENSEMBL:ENSP00000484658", "ENSEMBL:ENSP00000484658.2", "ENSEMBL:ENSP00000484841", "ENSEMBL:ENSP00000484841.2", "ENSEMBL:ENSP00000489282", "ENSEMBL:ENSP00000489282.1", "ENSEMBL:ENSP00000509120", "ENSEMBL:ENSP00000509120.1", "ENSEMBL:ENSP00000520711", "ENSEMBL:ENSP00000520711.1", "UMLS:C3640207"], "information_content": 71.4}
{"id": "UniProtKB:P12956-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "X-ray repair cross-complementing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P12956-1", "PR:P12956-1", "ENSEMBL:ENSP00000352257", "ENSEMBL:ENSP00000352257.4", "ENSEMBL:ENSP00000353192", "ENSEMBL:ENSP00000353192.3", "ENSEMBL:ENSP00000384257", "ENSEMBL:ENSP00000384257.1"], "information_content": 100.0}
{"id": "NCBIGene:23607", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD2AP", "equivalent_identifiers": ["NCBIGene:23607", "ENSEMBL:ENSG00000198087", "HGNC:14258", "OMIM:604241", "UMLS:C1422519", "UniProtKB:Q9Y5K6", "PR:Q9Y5K6", "ENSEMBL:ENSP00000352264", "ENSEMBL:ENSP00000352264.5", "UMLS:C1431893"], "information_content": 83.6}
{"id": "UniProtKB:Q6ZTW0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin polyglutamylase complex subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZTW0-1", "PR:Q6ZTW0-1", "ENSEMBL:ENSP00000352265", "ENSEMBL:ENSP00000352265.4"], "information_content": 100.0}
{"id": "MONDO:0002368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papillary serous cystadenocarcinoma", "equivalent_identifiers": ["MONDO:0002368", "DOID:2632", "UMLS:C0334361", "UMLS:C3839184", "NCIT:C4182", "NCIT:C8377", "SNOMEDCT:716649003", "medgen:825029"], "information_content": 89.4}
{"id": "NCBIGene:126767", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AADACL3", "equivalent_identifiers": ["NCBIGene:126767", "ENSEMBL:ENSG00000188984", "HGNC:32037", "UMLS:C1825489", "UniProtKB:Q5VUY0", "PR:Q5VUY0", "ENSEMBL:ENSP00000352268", "ENSEMBL:ENSP00000352268.6"], "information_content": 100.0}
{"id": "MONDO:0003827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient hypogammaglobulinemia", "equivalent_identifiers": ["MONDO:0003827", "DOID:625", "UMLS:C0859960", "NCIT:C27319", "medgen:167815"], "information_content": 95.4}
{"id": "NCBIGene:7516", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XRCC2", "equivalent_identifiers": ["NCBIGene:7516", "ENSEMBL:ENSG00000196584", "HGNC:12829", "OMIM:600375", "UMLS:C1337031", "UniProtKB:A0A384MEK2", "UniProtKB:O43543", "PR:O43543", "ENSEMBL:ENSP00000352271", "ENSEMBL:ENSP00000352271.1", "UMLS:C0676905", "MESH:C113187"], "information_content": 100.0}
{"id": "NCBIGene:58529", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYOZ1", "equivalent_identifiers": ["NCBIGene:58529", "ENSEMBL:ENSG00000177791", "HGNC:13752", "OMIM:605603", "UMLS:C1422182", "UniProtKB:Q9NP98", "PR:Q9NP98", "ENSEMBL:ENSP00000352272", "ENSEMBL:ENSP00000352272.4", "UMLS:C1447875", "MESH:C419780"], "information_content": 100.0}
{"id": "MONDO:0013229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hot water reflex epilepsy", "equivalent_identifiers": ["MONDO:0013229", "DOID:0081104", "OMIM.PS:613339", "orphanet:166412", "UMLS:C0393729", "UMLS:C4706506", "SNOMEDCT:230454005", "SNOMEDCT:763534009", "medgen:1631373"], "information_content": 92.8}
{"id": "NCBIGene:122773", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHDC1", "equivalent_identifiers": ["NCBIGene:122773", "ENSEMBL:ENSG00000197776", "HGNC:19836", "OMIM:611281", "UMLS:C1426463", "UniProtKB:Q8N7A1", "PR:Q8N7A1", "ENSEMBL:ENSP00000352282", "ENSEMBL:ENSP00000352282.2", "UMLS:C1958403", "MESH:C521116"], "information_content": 95.4}
{"id": "NCBIGene:23654", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLXNB2", "equivalent_identifiers": ["NCBIGene:23654", "ENSEMBL:ENSG00000196576", "HGNC:9104", "OMIM:604293", "UMLS:C1418665", "UniProtKB:O15031", "PR:O15031", "ENSEMBL:ENSP00000352288", "ENSEMBL:ENSP00000352288.4", "ENSEMBL:ENSP00000409171", "ENSEMBL:ENSP00000409171.1", "UMLS:C4077658", "MESH:C000604175"], "information_content": 79.6}
{"id": "NCBIGene:114336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CGB2", "equivalent_identifiers": ["NCBIGene:114336", "ENSEMBL:ENSG00000104818", "HGNC:16722", "OMIM:608824", "UMLS:C1424507", "UniProtKB:Q6NT52", "PR:Q6NT52", "ENSEMBL:ENSP00000352295", "ENSEMBL:ENSP00000352295.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2G3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2G3-1", "PR:Q9P2G3-1", "ENSEMBL:ENSP00000352314", "ENSEMBL:ENSP00000352314.4"], "information_content": 100.0}
{"id": "MONDO:0002571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary central nervous system lymphoma", "equivalent_identifiers": ["MONDO:0002571", "DOID:3234", "orphanet:46135", "EFO:1000157", "UMLS:C0280803", "UMLS:C0742472", "UMLS:C5886912", "MEDDRA:10007953", "MEDDRA:10036685", "NCIT:C9301", "SNOMEDCT:307649006", "medgen:79187", "icd11.foundation:1133193893", "ICD9:200.5", "HP:0030069"], "information_content": 76.0}
{"id": "UniProtKB:Q9H1D0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transient receptor potential cation channel subfamily V member 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1D0-1", "PR:Q9H1D0-1", "ENSEMBL:ENSP00000352358", "ENSEMBL:ENSP00000352358.5"], "information_content": 100.0}
{"id": "UniProtKB:P35658-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear pore complex protein Nup214 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35658-1", "PR:P35658-1", "ENSEMBL:ENSP00000352400", "ENSEMBL:ENSP00000352400.5"], "information_content": 100.0}
{"id": "MONDO:0005170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myeloid neoplasm", "equivalent_identifiers": ["MONDO:0005170", "DOID:0070004", "EFO:0002427", "UMLS:C2939461", "NCIT:C9290", "SNOMEDCT:414792005", "medgen:445430"], "information_content": 57.2}
{"id": "UniProtKB:Q96AT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribulose-phosphate 3-epimerase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AT9-1", "PR:Q96AT9-1", "ENSEMBL:ENSP00000352401", "ENSEMBL:ENSP00000352401.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BRISC and BRCA1-A complex member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWV8-1", "PR:Q9NWV8-1", "ENSEMBL:ENSP00000352408", "ENSEMBL:ENSP00000352408.3", "ENSEMBL:ENSP00000470920", "ENSEMBL:ENSP00000470920.1", "ENSEMBL:ENSP00000471605", "ENSEMBL:ENSP00000471605.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z5M5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane channel-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5M5-1", "PR:Q7Z5M5-1", "ENSEMBL:ENSP00000352413", "ENSEMBL:ENSP00000352413.5"], "information_content": 100.0}
{"id": "UniProtKB:O60258-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibroblast growth factor 17 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60258-1", "PR:O60258-1", "ENSEMBL:ENSP00000352414", "ENSEMBL:ENSP00000352414.3"], "information_content": 95.4}
{"id": "UniProtKB:O15165-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "low-density lipoprotein receptor class A domain-containing protein 4 isoform Alpha-1 (human)", "equivalent_identifiers": ["UniProtKB:O15165-1", "PR:O15165-1", "ENSEMBL:ENSP00000352420", "ENSEMBL:ENSP00000352420.5", "ENSEMBL:ENSP00000503185", "ENSEMBL:ENSP00000503185.1"], "information_content": 100.0}
{"id": "MONDO:0013687", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 12", "equivalent_identifiers": ["MONDO:0013687", "DOID:0080060", "OMIM:614322", "orphanet:284282", "UMLS:C3280452", "SNOMEDCT:770898002", "medgen:482082"], "information_content": 100.0}
{"id": "UniProtKB:P47804-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RPE-retinal G protein-coupled receptor isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P47804-2", "PR:P47804-2", "ENSEMBL:ENSP00000352427", "ENSEMBL:ENSP00000352427.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15366-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly(rC)-binding protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15366-2", "PR:Q15366-2", "ENSEMBL:ENSP00000352438", "ENSEMBL:ENSP00000352438.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9BW04-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "specifically androgen-regulated gene protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BW04-1", "PR:Q9BW04-1", "ENSEMBL:ENSP00000352447", "ENSEMBL:ENSP00000352447.5"], "information_content": 100.0}
{"id": "UniProtKB:Q13361-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microfibrillar-associated protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13361-1", "PR:Q13361-1", "ENSEMBL:ENSP00000352455", "ENSEMBL:ENSP00000352455.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGU0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor 20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGU0-1", "PR:Q9UGU0-1", "ENSEMBL:ENSP00000352463", "ENSEMBL:ENSP00000352463.3", "ENSEMBL:ENSP00000460328", "ENSEMBL:ENSP00000460328.1", "ENSEMBL:ENSP00000483199", "ENSEMBL:ENSP00000483199.1", "ENSEMBL:ENSP00000503828", "ENSEMBL:ENSP00000503828.1", "ENSEMBL:ENSP00000508272", "ENSEMBL:ENSP00000508272.1"], "information_content": 100.0}
{"id": "UniProtKB:O15040-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tectonin beta-propeller repeat-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15040-1", "PR:O15040-1", "ENSEMBL:ENSP00000352510", "ENSEMBL:ENSP00000352510.7"], "information_content": 100.0}
{"id": "MONDO:0011599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "birdshot chorioretinopathy", "equivalent_identifiers": ["MONDO:0011599", "DOID:0111079", "OMIM:605808", "orphanet:179", "UMLS:C1853959", "MESH:C537630", "MESH:D000080365", "MEDDRA:10072959", "SNOMEDCT:231981005", "medgen:340098", "icd11.foundation:1954035043", "HP:0030952"], "information_content": 100.0}
{"id": "UniProtKB:O95297-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myelin protein zero-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95297-1", "PR:O95297-1", "ENSEMBL:ENSP00000352513", "ENSEMBL:ENSP00000352513.2"], "information_content": 100.0}
{"id": "MONDO:0018690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Adie syndrome", "equivalent_identifiers": ["MONDO:0018690", "DOID:11549", "OMIM:103100", "orphanet:454718", "EFO:0004126", "UMLS:C0001519", "UMLS:C0040416", "MESH:D000270", "MESH:D015845", "MEDDRA:10020352", "MEDDRA:10020353", "MEDDRA:10037512", "MEDDRA:10043995", "MEDDRA:10050003", "NCIT:C34357", "SNOMEDCT:24225004", "medgen:138", "HP:0012074"], "information_content": 100.0}
{"id": "UniProtKB:P26358-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA (cytosine-5)-methyltransferase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P26358-2", "PR:P26358-2", "ENSEMBL:ENSP00000352516", "ENSEMBL:ENSP00000352516.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UI12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-type proton ATPase subunit H isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UI12-1", "PR:Q9UI12-1", "ENSEMBL:ENSP00000352522", "ENSEMBL:ENSP00000352522.2", "ENSEMBL:ENSP00000379995", "ENSEMBL:ENSP00000379995.2"], "information_content": 100.0}
{"id": "NCBIGene:8645", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNK5", "equivalent_identifiers": ["NCBIGene:8645", "ENSEMBL:ENSG00000164626", "HGNC:6280", "OMIM:603493", "UMLS:C1456384", "UniProtKB:A0A0B6VPR3", "UMLS:C1447746", "MESH:C410295", "UniProtKB:O95279", "PR:O95279", "ENSEMBL:ENSP00000352527", "ENSEMBL:ENSP00000352527.3"], "information_content": 95.4}
{"id": "UniProtKB:Q8WUA4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription factor 3C polypeptide 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUA4-1", "PR:Q8WUA4-1", "ENSEMBL:ENSP00000264720", "ENSEMBL:ENSP00000264720.3", "ENSEMBL:ENSP00000352536", "ENSEMBL:ENSP00000352536.2"], "information_content": 100.0}
{"id": "MONDO:0011573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psoriasis 7", "equivalent_identifiers": ["MONDO:0011573", "DOID:0111279", "OMIM:605606", "UMLS:C1854124", "medgen:343057"], "information_content": 100.0}
{"id": "NCBIGene:2013", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EMP2", "equivalent_identifiers": ["NCBIGene:2013", "ENSEMBL:ENSG00000213853", "HGNC:3334", "OMIM:602334", "UMLS:C1414388", "UniProtKB:P54851", "PR:P54851", "ENSEMBL:ENSP00000352540", "ENSEMBL:ENSP00000352540.3", "ENSEMBL:ENSP00000445712", "ENSEMBL:ENSP00000445712.1", "UMLS:C1430491", "MESH:C486403"], "information_content": 100.0}
{"id": "MONDO:0003618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyosalpinx", "equivalent_identifiers": ["MONDO:0003618", "DOID:5732", "UMLS:C0034220", "MEDDRA:10037657", "NCIT:C34968", "SNOMEDCT:397810006", "medgen:18785"], "information_content": 100.0}
{"id": "NCBIGene:10814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPLX2", "equivalent_identifiers": ["NCBIGene:10814", "ENSEMBL:ENSG00000145920", "HGNC:2310", "OMIM:605033", "UMLS:C1413671", "UniProtKB:Q6PUV4", "PR:Q6PUV4", "ENSEMBL:ENSP00000352544", "ENSEMBL:ENSP00000352544.4", "ENSEMBL:ENSP00000377346", "ENSEMBL:ENSP00000377346.3", "ENSEMBL:ENSP00000421825", "ENSEMBL:ENSP00000421825.1", "UMLS:C1307538"], "information_content": 95.4}
{"id": "UniProtKB:P61296-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heart- and neural crest derivatives-expressed protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61296-1", "PR:P61296-1", "ENSEMBL:ENSP00000352565", "ENSEMBL:ENSP00000352565.4"], "information_content": 100.0}
{"id": "MONDO:0000931", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endometrial disorder", "equivalent_identifiers": ["MONDO:0000931", "DOID:1005", "UMLS:C0151622", "MEDDRA:10013219", "MEDDRA:10014753", "MEDDRA:10014754", "NCIT:C3504", "SNOMEDCT:418632009", "medgen:57473"], "information_content": 61.6}
{"id": "UniProtKB:O95613-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pericentrin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95613-1", "PR:O95613-1", "ENSEMBL:ENSP00000352572", "ENSEMBL:ENSP00000352572.5"], "information_content": 100.0}
{"id": "NCBIGene:57016", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AKR1B10", "equivalent_identifiers": ["NCBIGene:57016", "ENSEMBL:ENSG00000198074", "HGNC:382", "OMIM:604707", "UMLS:C1412323", "UniProtKB:O60218", "PR:O60218", "ENSEMBL:ENSP00000352584", "ENSEMBL:ENSP00000352584.4", "UMLS:C0674895", "MESH:C120471"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z4F1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "low-density lipoprotein receptor-related protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4F1-1", "PR:Q7Z4F1-1", "ENSEMBL:ENSP00000352601", "ENSEMBL:ENSP00000352601.4"], "information_content": 100.0}
{"id": "UniProtKB:P21817-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ryanodine receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P21817-1", "PR:P21817-1", "ENSEMBL:ENSP00000352608", "ENSEMBL:ENSP00000352608.2"], "information_content": 100.0}
{"id": "NCBIGene:57643", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZSWIM5", "equivalent_identifiers": ["NCBIGene:57643", "ENSEMBL:ENSG00000162415", "HGNC:29299", "OMIM:620132", "UMLS:C1428828", "UniProtKB:Q9P217", "PR:Q9P217", "ENSEMBL:ENSP00000352614", "ENSEMBL:ENSP00000352614.5"], "information_content": 92.8}
{"id": "NCBIGene:63036", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CELA2A", "equivalent_identifiers": ["NCBIGene:63036", "ENSEMBL:ENSG00000142615", "HGNC:24609", "OMIM:609443", "UMLS:C1836181", "UniProtKB:P08217", "PR:P08217", "ENSEMBL:ENSP00000352639", "ENSEMBL:ENSP00000352639.4", "UMLS:C5391269", "MESH:C000656626"], "information_content": 100.0}
{"id": "DOID:0070335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "celery allergy", "equivalent_identifiers": ["DOID:0070335"]}
{"id": "NCBIGene:65999", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC61", "equivalent_identifiers": ["NCBIGene:65999", "ENSEMBL:ENSG00000127399", "HGNC:21704", "UMLS:C1825905", "UniProtKB:Q9BV99", "PR:Q9BV99", "ENSEMBL:ENSP00000339047", "ENSEMBL:ENSP00000339047.6", "ENSEMBL:ENSP00000352642", "ENSEMBL:ENSP00000352642.4", "ENSEMBL:ENSP00000420560", "ENSEMBL:ENSP00000420560.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9NV66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NV66-1", "PR:Q9NV66-1", "ENSEMBL:ENSP00000352645", "ENSEMBL:ENSP00000352645.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96LB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidoglycan recognition protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LB8-1", "PR:Q96LB8-1", "ENSEMBL:ENSP00000352672", "ENSEMBL:ENSP00000352672.5"], "information_content": 100.0}
{"id": "UniProtKB:P78545-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS-related transcription factor Elf-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78545-1", "PR:P78545-1", "ENSEMBL:ENSP00000352673", "ENSEMBL:ENSP00000352673.3", "ENSEMBL:ENSP00000356252", "ENSEMBL:ENSP00000356252.3", "ENSEMBL:ENSP00000356253", "ENSEMBL:ENSP00000356253.5"], "information_content": 100.0}
{"id": "NCBIGene:54764", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZRANB1", "equivalent_identifiers": ["NCBIGene:54764", "ENSEMBL:ENSG00000019995", "HGNC:18224", "OMIM:611749", "UMLS:C1425380", "UniProtKB:Q9UGI0", "PR:Q9UGI0", "ENSEMBL:ENSP00000352676", "ENSEMBL:ENSP00000352676.4", "UMLS:C3490530", "MESH:C570449"], "information_content": 95.4}
{"id": "NCBIGene:6832", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUPV3L1", "equivalent_identifiers": ["NCBIGene:6832", "ENSEMBL:ENSG00000156502", "HGNC:11471", "OMIM:605122", "UMLS:C1420525", "UniProtKB:B7Z611", "UMLS:C1172874", "MESH:C469673", "UniProtKB:Q8IYB8", "PR:Q8IYB8", "ENSEMBL:ENSP00000352678", "ENSEMBL:ENSP00000352678.4"], "information_content": 92.8}
{"id": "UniProtKB:Q6NVY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NVY1-1", "PR:Q6NVY1-1", "ENSEMBL:ENSP00000352706", "ENSEMBL:ENSP00000352706.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UN86-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras GTPase-activating protein-binding protein 2 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9UN86-1", "PR:Q9UN86-1", "ENSEMBL:ENSP00000352738", "ENSEMBL:ENSP00000352738.4", "ENSEMBL:ENSP00000379069", "ENSEMBL:ENSP00000379069.3", "ENSEMBL:ENSP00000503228", "ENSEMBL:ENSP00000503228.1", "ENSEMBL:ENSP00000503239", "ENSEMBL:ENSP00000503239.1", "ENSEMBL:ENSP00000503355", "ENSEMBL:ENSP00000503355.1", "ENSEMBL:ENSP00000503504", "ENSEMBL:ENSP00000503504.1", "ENSEMBL:ENSP00000503669", "ENSEMBL:ENSP00000503669.1", "ENSEMBL:ENSP00000503911", "ENSEMBL:ENSP00000503911.1", "ENSEMBL:ENSP00000503943", "ENSEMBL:ENSP00000503943.1", "ENSEMBL:ENSP00000504101", "ENSEMBL:ENSP00000504101.1", "ENSEMBL:ENSP00000504159", "ENSEMBL:ENSP00000504159.1", "ENSEMBL:ENSP00000504316", "ENSEMBL:ENSP00000504316.1", "ENSEMBL:ENSP00000504361", "ENSEMBL:ENSP00000504361.1", "ENSEMBL:ENSP00000504371", "ENSEMBL:ENSP00000504371.1", "ENSEMBL:ENSP00000504496", "ENSEMBL:ENSP00000504496.1", "ENSEMBL:ENSP00000504523", "ENSEMBL:ENSP00000504523.1", "ENSEMBL:ENSP00000504585", "ENSEMBL:ENSP00000504585.1", "ENSEMBL:ENSP00000504698", "ENSEMBL:ENSP00000504698.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86SJ6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "desmoglein-4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86SJ6-2", "PR:Q86SJ6-2", "ENSEMBL:ENSP00000352785", "ENSEMBL:ENSP00000352785.4"], "information_content": 100.0}
{"id": "UniProtKB:P39060-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XVIII) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P39060-3", "PR:P39060-3", "ENSEMBL:ENSP00000352798", "ENSEMBL:ENSP00000352798.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZN3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyltransferase ZDHHC14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZN3-1", "PR:Q8IZN3-1", "ENSEMBL:ENSP00000352821", "ENSEMBL:ENSP00000352821.5"], "information_content": 100.0}
{"id": "UniProtKB:A0A0B4J1S7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A0B4J1S7_HUMAN protein-tyrosine-phosphatase (trembl)", "equivalent_identifiers": ["UniProtKB:A0A0B4J1S7", "ENSEMBL:ENSP00000352833", "ENSEMBL:ENSP00000352833.5"]}
{"id": "NCBIGene:4151", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MB", "equivalent_identifiers": ["NCBIGene:4151", "ENSEMBL:ENSG00000198125", "HGNC:6915", "OMIM:160000", "UMLS:C1417048", "UniProtKB:A0A1K0FU49", "UniProtKB:P02144", "PR:P02144", "ENSEMBL:ENSP00000352835", "ENSEMBL:ENSP00000352835.1", "ENSEMBL:ENSP00000380489", "ENSEMBL:ENSP00000380489.2", "ENSEMBL:ENSP00000380491", "ENSEMBL:ENSP00000380491.1", "ENSEMBL:ENSP00000384239", "ENSEMBL:ENSP00000384239.1", "UMLS:C5702568", "UniProtKB:Q8WVH6", "ENSEMBL:ENSP00000386060", "ENSEMBL:ENSP00000386060.1"], "information_content": 89.4}
{"id": "UniProtKB:Q8N4W9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 808 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4W9-1", "PR:Q8N4W9-1", "ENSEMBL:ENSP00000352846", "ENSEMBL:ENSP00000352846.4"], "information_content": 100.0}
{"id": "MONDO:0001086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "partial optic atrophy", "equivalent_identifiers": ["MONDO:0001086", "DOID:10631", "UMLS:C0155295", "MEDDRA:10034074", "SNOMEDCT:111527005", "medgen:509900", "ICD9:377.15"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCM2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plexin-A4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCM2-1", "PR:Q9HCM2-1", "ENSEMBL:ENSP00000323194", "ENSEMBL:ENSP00000323194.4", "ENSEMBL:ENSP00000352882", "ENSEMBL:ENSP00000352882.3"], "information_content": 100.0}
{"id": "NCBIGene:6258", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RXRG", "equivalent_identifiers": ["NCBIGene:6258", "ENSEMBL:ENSG00000143171", "HGNC:10479", "OMIM:180247", "UMLS:C1456394", "UniProtKB:A0A087WZ88", "ENSEMBL:ENSP00000482458", "ENSEMBL:ENSP00000482458.1", "UniProtKB:F1D8Q7", "UniProtKB:F1T097", "UniProtKB:P48443", "PR:P48443", "ENSEMBL:ENSP00000352900", "ENSEMBL:ENSP00000352900.5", "UMLS:C4721499"], "information_content": 92.8}
{"id": "UniProtKB:Q96P26-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic 5'-nucleotidase 1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96P26-1", "PR:Q96P26-1", "ENSEMBL:ENSP00000352904", "ENSEMBL:ENSP00000352904.2"], "information_content": 100.0}
{"id": "MONDO:0014351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 9", "equivalent_identifiers": ["MONDO:0014351", "DOID:0060278", "OMIM:615809", "orphanet:369920", "UMLS:C4014354", "medgen:862791"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4A5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transformation/transcription domain-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4A5-1", "PR:Q9Y4A5-1", "ENSEMBL:ENSP00000352925", "ENSEMBL:ENSP00000352925.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15561-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcriptional enhancer factor TEF-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15561-1", "PR:Q15561-1", "ENSEMBL:ENSP00000352926", "ENSEMBL:ENSP00000352926.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4B5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule cross-linking factor 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4B5-3", "PR:Q9Y4B5-3", "ENSEMBL:ENSP00000352927", "ENSEMBL:ENSP00000352927.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ38-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine protease inhibitor Kazal-type 5 isoform long (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ38-3", "PR:Q9NQ38-3", "ENSEMBL:ENSP00000352936", "ENSEMBL:ENSP00000352936.3"], "information_content": 100.0}
{"id": "MONDO:0005669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "black piedra", "equivalent_identifiers": ["MONDO:0005669", "DOID:12711", "EFO:0007171", "UMLS:C0153249", "MEDDRA:10004975", "SNOMEDCT:33666009", "medgen:452132", "icd11.foundation:1990974193", "ICD10:B36.3", "ICD9:111.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6PI47-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein KCTD18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PI47-1", "PR:Q6PI47-1", "ENSEMBL:ENSP00000352941", "ENSEMBL:ENSP00000352941.3", "ENSEMBL:ENSP00000386751", "ENSEMBL:ENSP00000386751.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86U06-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable RNA-binding protein 23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86U06-1", "PR:Q86U06-1", "ENSEMBL:ENSP00000352956", "ENSEMBL:ENSP00000352956.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6T4P5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid phosphatase-related protein type 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6T4P5-3", "PR:Q6T4P5-3", "ENSEMBL:ENSP00000352962", "ENSEMBL:ENSP00000352962.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96L15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ecto-ADP-ribosyltransferase 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96L15-1", "PR:Q96L15-1", "ENSEMBL:ENSP00000352992", "ENSEMBL:ENSP00000352992.4", "ENSEMBL:ENSP00000380258", "ENSEMBL:ENSP00000380258.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWU5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "extracellular sulfatase Sulf-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWU5-1", "PR:Q8IWU5-1", "ENSEMBL:ENSP00000353007", "ENSEMBL:ENSP00000353007.4", "ENSEMBL:ENSP00000418290", "ENSEMBL:ENSP00000418290.1", "ENSEMBL:ENSP00000508753", "ENSEMBL:ENSP00000508753.1"], "information_content": 100.0}
{"id": "NCBIGene:55102", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATG2B", "equivalent_identifiers": ["NCBIGene:55102", "ENSEMBL:ENSG00000066739", "HGNC:20187", "OMIM:616226", "UMLS:C1426760", "UniProtKB:Q96BY7", "PR:Q96BY7", "ENSEMBL:ENSP00000353010", "ENSEMBL:ENSP00000353010.4", "UMLS:C3492308", "MESH:C572313"], "information_content": 90.9}
{"id": "NCBIGene:161198", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLEC14A", "equivalent_identifiers": ["NCBIGene:161198", "ENSEMBL:ENSG00000176435", "HGNC:19832", "OMIM:616845", "UMLS:C1539107", "UniProtKB:Q86T13", "PR:Q86T13", "ENSEMBL:ENSP00000353013", "ENSEMBL:ENSP00000353013.2", "UMLS:C3490995", "MESH:C570898"], "information_content": 82.6}
{"id": "NCBIGene:10447", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM3C", "equivalent_identifiers": ["NCBIGene:10447", "ENSEMBL:ENSG00000196937", "HGNC:18664", "OMIM:608618", "UMLS:C1425690", "UniProtKB:Q92520", "PR:Q92520", "ENSEMBL:ENSP00000353025", "ENSEMBL:ENSP00000353025.3", "UMLS:C1743459", "MESH:C514209"], "information_content": 85.5}
{"id": "UniProtKB:P10586-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase F isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P10586-1", "PR:P10586-1", "ENSEMBL:ENSP00000353030", "ENSEMBL:ENSP00000353030.4"], "information_content": 100.0}
{"id": "UniProtKB:Q99571-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "P2X purinoceptor 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99571-2", "PR:Q99571-2", "ENSEMBL:ENSP00000353032", "ENSEMBL:ENSP00000353032.7"], "information_content": 100.0}
{"id": "NCBIGene:150160", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCT8L2", "equivalent_identifiers": ["NCBIGene:150160", "ENSEMBL:ENSG00000198445", "HGNC:15553", "UMLS:C2240358", "UniProtKB:Q96SF2", "PR:Q96SF2", "ENSEMBL:ENSP00000353048", "ENSEMBL:ENSP00000353048.3"], "information_content": 100.0}
{"id": "NCBIGene:340385", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF517", "equivalent_identifiers": ["NCBIGene:340385", "ENSEMBL:ENSG00000197363", "HGNC:27984", "UMLS:C1428661", "UniProtKB:A0AV05", "UniProtKB:B7ZLN6", "UniProtKB:G3V191", "ENSEMBL:ENSP00000433299", "ENSEMBL:ENSP00000433299.1", "UniProtKB:Q6ZMY9", "PR:Q6ZMY9", "ENSEMBL:ENSP00000353058", "ENSEMBL:ENSP00000353058.3", "ENSEMBL:ENSP00000435166", "ENSEMBL:ENSP00000435166.1"], "information_content": 100.0}
{"id": "MONDO:0030914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clark-Baraitser syndrome", "equivalent_identifiers": ["MONDO:0030914", "DOID:0080234", "OMIM:617752", "orphanet:600731", "UMLS:C2931130", "MESH:C536208", "SNOMEDCT:1300132009", "medgen:443983"], "information_content": 100.0}
{"id": "UniProtKB:Q93084-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform hSERCA3E (human)", "equivalent_identifiers": ["UniProtKB:Q93084-5", "PR:Q93084-5", "ENSEMBL:ENSP00000353072", "ENSEMBL:ENSP00000353072.3"], "information_content": 100.0}
{"id": "MONDO:0007048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrokeratosis verruciformis", "equivalent_identifiers": ["MONDO:0007048", "DOID:0050606", "OMIM:101900", "orphanet:79151", "EFO:1000666", "UMLS:C0265971", "MEDDRA:10069445", "NCIT:C27519", "SNOMEDCT:400085009", "medgen:75589"], "information_content": 100.0}
{"id": "NCBIGene:3123", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLA-DRB1", "equivalent_identifiers": ["NCBIGene:3123", "ENSEMBL:ENSG00000196126", "HGNC:4948", "OMIM:142857", "UMLS:C1415576", "UniProtKB:A0A224MM52", "UniProtKB:A2BFX2", "ENSEMBL:ENSP00000403458", "ENSEMBL:ENSP00000403458.2", "UniProtKB:D7RIG5", "ENSEMBL:ENSP00000405960", "ENSEMBL:ENSP00000405960.2", "ENSEMBL:ENSP00000409322", "ENSEMBL:ENSP00000409322.2", "UniProtKB:D7RIH8", "UniProtKB:P01911", "PR:P01911", "ENSEMBL:ENSP00000353099", "ENSEMBL:ENSP00000353099.5", "UniProtKB:Q5Y7D1", "ENSEMBL:ENSP00000331343", "ENSEMBL:ENSP00000331343.7", "ENSEMBL:ENSP00000382378", "ENSEMBL:ENSP00000382378.2", "UniProtKB:X5DNQ0"], "information_content": 80.9}
{"id": "UniProtKB:Q86SQ9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q86SQ9-2", "PR:Q86SQ9-2", "ENSEMBL:ENSP00000353104", "ENSEMBL:ENSP00000353104.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein AHNAK2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVF2-1", "PR:Q8IVF2-1", "ENSEMBL:ENSP00000353114", "ENSEMBL:ENSP00000353114.4"], "information_content": 100.0}
{"id": "NCBIGene:340578", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCAF12L2", "equivalent_identifiers": ["NCBIGene:340578", "ENSEMBL:ENSG00000198354", "HGNC:32950", "UMLS:C1823822", "UniProtKB:Q5VW00", "PR:Q5VW00", "ENSEMBL:ENSP00000353128", "ENSEMBL:ENSP00000353128.2", "UMLS:C4553734"], "information_content": 100.0}
{"id": "MONDO:0000509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-syndromic intellectual disability", "equivalent_identifiers": ["MONDO:0000509", "DOID:0050889"], "information_content": 66.8}
{"id": "NCBIGene:386617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCTD8", "equivalent_identifiers": ["NCBIGene:386617", "ENSEMBL:ENSG00000183783", "HGNC:22394", "OMIM:618442", "UMLS:C1427767", "UniProtKB:Q6ZWB6", "PR:Q6ZWB6", "ENSEMBL:ENSP00000353129", "ENSEMBL:ENSP00000353129.3", "UMLS:C5197562", "MESH:C000632955"], "information_content": 100.0}
{"id": "UniProtKB:Q96RP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "galactose-3-O-sulfotransferase 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RP7-1", "PR:Q96RP7-1", "ENSEMBL:ENSP00000353142", "ENSEMBL:ENSP00000353142.4", "ENSEMBL:ENSP00000400451", "ENSEMBL:ENSP00000400451.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3S4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thiamine pyrophosphokinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3S4-1", "PR:Q9H3S4-1", "ENSEMBL:ENSP00000353165", "ENSEMBL:ENSP00000353165.3"], "information_content": 100.0}
{"id": "UniProtKB:P10082-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptide YY isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P10082-1", "PR:P10082-1", "ENSEMBL:ENSP00000353198", "ENSEMBL:ENSP00000353198.1", "ENSEMBL:ENSP00000509262", "ENSEMBL:ENSP00000509262.1"], "information_content": 100.0}
{"id": "NCBIGene:353132", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCE1B", "equivalent_identifiers": ["NCBIGene:353132", "ENSEMBL:ENSG00000196734", "HGNC:16611", "OMIM:612604", "UMLS:C1537531", "UniProtKB:Q5T7P3", "PR:Q5T7P3", "ENSEMBL:ENSP00000353203", "ENSEMBL:ENSP00000353203.3", "UMLS:C2001111", "MESH:C524765"], "information_content": 100.0}
{"id": "MONDO:0005282", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous lupus erythematosus", "equivalent_identifiers": ["MONDO:0005282", "DOID:0050169", "EFO:0003834", "UMLS:C0024137", "MESH:D008178", "MEDDRA:10056509", "NCIT:C26819", "SNOMEDCT:7119001", "medgen:7401", "icd11.foundation:1401395930"], "information_content": 83.1}
{"id": "UniProtKB:Q6ZQX7-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein LIAT1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZQX7-4", "PR:Q6ZQX7-4", "ENSEMBL:ENSP00000353245", "ENSEMBL:ENSP00000353245.6", "ENSEMBL:ENSP00000491943", "ENSEMBL:ENSP00000491943.1"], "information_content": 100.0}
{"id": "NCBIGene:84549", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAK16", "equivalent_identifiers": ["NCBIGene:84549", "ENSEMBL:ENSG00000198042", "HGNC:13703", "UMLS:C1422151", "UniProtKB:Q9BXY0", "PR:Q9BXY0", "ENSEMBL:ENSP00000353246", "ENSEMBL:ENSP00000353246.5"], "information_content": 95.4}
{"id": "MONDO:0013314", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 56", "equivalent_identifiers": ["MONDO:0013314", "DOID:0110371", "OMIM:613581", "UMLS:C3150819", "medgen:462169"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDL9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic carboxypeptidase-like protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDL9-1", "PR:Q8NDL9-1", "ENSEMBL:ENSP00000353249", "ENSEMBL:ENSP00000353249.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGN4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CMRF35-like molecule 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGN4-1", "PR:Q9UGN4-1", "ENSEMBL:ENSP00000353259", "ENSEMBL:ENSP00000353259.3", "ENSEMBL:ENSP00000517551", "ENSEMBL:ENSP00000517551.1"], "information_content": 100.0}
{"id": "NCBIGene:51290", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERGIC2", "equivalent_identifiers": ["NCBIGene:51290", "ENSEMBL:ENSG00000087502", "HGNC:30208", "OMIM:612236", "UMLS:C1825062", "UniProtKB:Q96RQ1", "PR:Q96RQ1", "ENSEMBL:ENSP00000353270", "ENSEMBL:ENSP00000353270.4"], "information_content": 90.9}
{"id": "UniProtKB:O15523-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent RNA helicase DDX3Y isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15523-1", "PR:O15523-1", "ENSEMBL:ENSP00000336725", "ENSEMBL:ENSP00000336725.3", "ENSEMBL:ENSP00000353284", "ENSEMBL:ENSP00000353284.4"], "information_content": 100.0}
{"id": "UniProtKB:P37088-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epithelial sodium channel subunit alpha isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P37088-2", "PR:P37088-2", "ENSEMBL:ENSP00000353292", "ENSEMBL:ENSP00000353292.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kin of IRRE-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWL6-1", "PR:Q6UWL6-1", "ENSEMBL:ENSP00000353331", "ENSEMBL:ENSP00000353331.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZ71-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of telomere elongation helicase 1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZ71-6", "PR:Q9NZ71-6", "ENSEMBL:ENSP00000353332", "ENSEMBL:ENSP00000353332.5"], "information_content": 100.0}
{"id": "NCBIGene:119772", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52M1", "equivalent_identifiers": ["NCBIGene:119772", "ENSEMBL:ENSG00000197790", "HGNC:15225", "UMLS:C1423316", "UniProtKB:Q8NGK5", "PR:Q8NGK5", "ENSEMBL:ENSP00000353343", "ENSEMBL:ENSP00000353343.1"], "information_content": 100.0}
{"id": "NCBIGene:2114", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ETS2", "equivalent_identifiers": ["NCBIGene:2114", "ENSEMBL:ENSG00000157557", "HGNC:3489", "OMIM:164740", "UMLS:C0812202", "UniProtKB:P15036", "PR:P15036", "ENSEMBL:ENSP00000353344", "ENSEMBL:ENSP00000353344.3", "ENSEMBL:ENSP00000354194", "ENSEMBL:ENSP00000354194.3", "ENSEMBL:ENSP00000499226", "ENSEMBL:ENSP00000499226.1", "ENSEMBL:ENSP00000499315", "ENSEMBL:ENSP00000499315.1", "ENSEMBL:ENSP00000499775", "ENSEMBL:ENSP00000499775.1", "UMLS:C0107720", "UMLS:C1451748", "MESH:C494069"], "information_content": 90.9}
{"id": "UniProtKB:P27816-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-associated protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P27816-1", "PR:P27816-1", "ENSEMBL:ENSP00000353375", "ENSEMBL:ENSP00000353375.6"], "information_content": 100.0}
{"id": "UniProtKB:Q68D86-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 102B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68D86-1", "PR:Q68D86-1", "ENSEMBL:ENSP00000353377", "ENSEMBL:ENSP00000353377.5"], "information_content": 100.0}
{"id": "NCBIGene:4103", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEA4", "equivalent_identifiers": ["NCBIGene:4103", "ENSEMBL:ENSG00000147381", "HGNC:6802", "OMIM:300175", "UMLS:C1416975", "UniProtKB:P43358", "PR:P43358", "ENSEMBL:ENSP00000276344", "ENSEMBL:ENSP00000276344.2", "ENSEMBL:ENSP00000353379", "ENSEMBL:ENSP00000353379.2", "ENSEMBL:ENSP00000359360", "ENSEMBL:ENSP00000359360.1", "ENSEMBL:ENSP00000359365", "ENSEMBL:ENSP00000359365.3", "ENSEMBL:ENSP00000377497", "ENSEMBL:ENSP00000377497.1", "ENSEMBL:ENSP00000377498", "ENSEMBL:ENSP00000377498.1", "ENSEMBL:ENSP00000394149", "ENSEMBL:ENSP00000394149.2", "ENSEMBL:ENSP00000402186", "ENSEMBL:ENSP00000402186.2", "ENSEMBL:ENSP00000506838", "ENSEMBL:ENSP00000506838.1", "ENSEMBL:ENSP00000507023", "ENSEMBL:ENSP00000507023.1", "UMLS:C0915086", "UMLS:C3537350", "MESH:C095204"], "information_content": 100.0}
{"id": "UniProtKB:P00451-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coagulation factor VIII isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P00451-1", "PR:P00451-1", "ENSEMBL:ENSP00000353393", "ENSEMBL:ENSP00000353393.4"], "information_content": 100.0}
{"id": "UniProtKB:P39880-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein cut-like 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P39880-3", "PR:P39880-3", "ENSEMBL:ENSP00000353401", "ENSEMBL:ENSP00000353401.3"], "information_content": 100.0}
{"id": "NCBIGene:4478", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MSN", "equivalent_identifiers": ["NCBIGene:4478", "ENSEMBL:ENSG00000147065", "HGNC:7373", "OMIM:309845", "UMLS:C1417371", "UniProtKB:P26038", "PR:P26038", "ENSEMBL:ENSP00000353408", "ENSEMBL:ENSP00000353408.5", "UMLS:C1504868", "UniProtKB:V9HWC0"], "information_content": 88.2}
{"id": "UniProtKB:Q01814-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plasma membrane calcium-transporting ATPase 2 isoform WB (human)", "equivalent_identifiers": ["UniProtKB:Q01814-1", "PR:Q01814-1", "ENSEMBL:ENSP00000353414", "ENSEMBL:ENSP00000353414.2", "ENSEMBL:ENSP00000494716", "ENSEMBL:ENSP00000494716.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96RL7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intermembrane lipid transfer protein VPS13A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RL7-1", "PR:Q96RL7-1", "ENSEMBL:ENSP00000353422", "ENSEMBL:ENSP00000353422.3"], "information_content": 100.0}
{"id": "MONDO:0008692", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abetalipoproteinemia", "equivalent_identifiers": ["MONDO:0008692", "DOID:1386", "OMIM:200100", "orphanet:14", "EFO:1001789", "UMLS:C0000744", "UMLS:C1704299", "MESH:D000012", "MESH:D052476", "MEDDRA:10083851", "MEDDRA:10083885", "NCIT:C84525", "SNOMEDCT:190787008", "medgen:1253", "ICD10:E78.6", "HP:0008181"], "information_content": 100.0}
{"id": "UniProtKB:P61020-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-5B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61020-1", "PR:P61020-1", "ENSEMBL:ENSP00000353444", "ENSEMBL:ENSP00000353444.5", "ENSEMBL:ENSP00000450168", "ENSEMBL:ENSP00000450168.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15746-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin light chain kinase, smooth muscle isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15746-1", "PR:Q15746-1", "ENSEMBL:ENSP00000353452", "ENSEMBL:ENSP00000353452.3", "ENSEMBL:ENSP00000508758", "ENSEMBL:ENSP00000508758.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ75-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Cas scaffolding protein family member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ75-1", "PR:Q9NQ75-1", "ENSEMBL:ENSP00000353462", "ENSEMBL:ENSP00000353462.3", "ENSEMBL:ENSP00000506506", "ENSEMBL:ENSP00000506506.1"], "information_content": 100.0}
{"id": "NCBIGene:140680", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C20orf96", "equivalent_identifiers": ["NCBIGene:140680", "ENSEMBL:ENSG00000196476", "HGNC:16227", "UMLS:C1424103", "UniProtKB:B7ZML9", "UniProtKB:F5GZA9", "ENSEMBL:ENSP00000383128", "ENSEMBL:ENSP00000383128.4", "UniProtKB:Q9NUD7", "PR:Q9NUD7", "ENSEMBL:ENSP00000353470", "ENSEMBL:ENSP00000353470.2"], "information_content": 95.4}
{"id": "UniProtKB:O95471-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "claudin-7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95471-1", "PR:O95471-1", "ENSEMBL:ENSP00000353475", "ENSEMBL:ENSP00000353475.7", "ENSEMBL:ENSP00000396638", "ENSEMBL:ENSP00000396638.3", "ENSEMBL:ENSP00000500298", "ENSEMBL:ENSP00000500298.1", "ENSEMBL:ENSP00000500460", "ENSEMBL:ENSP00000500460.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14592-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 460 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14592-1", "PR:Q14592-1", "ENSEMBL:ENSP00000353491", "ENSEMBL:ENSP00000353491.2"], "information_content": 100.0}
{"id": "UniProtKB:O60299-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine zipper putative tumor suppressor 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60299-2", "PR:O60299-2", "ENSEMBL:ENSP00000353496", "ENSEMBL:ENSP00000353496.3", "ENSEMBL:ENSP00000495241", "ENSEMBL:ENSP00000495241.1"], "information_content": 100.0}
{"id": "UniProtKB:P11137-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-associated protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11137-1", "PR:P11137-1", "ENSEMBL:ENSP00000353508", "ENSEMBL:ENSP00000353508.4", "ENSEMBL:ENSP00000507035", "ENSEMBL:ENSP00000507035.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXQ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein mono-ADP-ribosyltransferase PARP9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXQ6-1", "PR:Q8IXQ6-1", "ENSEMBL:ENSP00000353512", "ENSEMBL:ENSP00000353512.2"], "information_content": 100.0}
{"id": "NCBIGene:343171", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2W3", "equivalent_identifiers": ["NCBIGene:343171", "ENSEMBL:ENSG00000238243", "HGNC:15021", "OMIM:616729", "UMLS:C1423142", "UniProtKB:Q7Z3T1", "PR:Q7Z3T1", "ENSEMBL:ENSP00000353516", "ENSEMBL:ENSP00000353516.3", "UMLS:C4077544", "MESH:C000601325"], "information_content": 100.0}
{"id": "UniProtKB:Q92625-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and SAM domain-containing protein 1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92625-1", "PR:Q92625-1", "ENSEMBL:ENSP00000353518", "ENSEMBL:ENSP00000353518.3"], "information_content": 100.0}
{"id": "MONDO:0001646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign secondary hypertension", "equivalent_identifiers": ["MONDO:0001646", "DOID:13143", "UMLS:C0155620", "MEDDRA:10004455", "MEDDRA:10039837", "NCIT:C3658", "SNOMEDCT:194785008", "medgen:57610", "ICD9:405.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9C099-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat and coiled-coil domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C099-1", "PR:Q9C099-1", "ENSEMBL:ENSP00000353538", "ENSEMBL:ENSP00000353538.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5T1Q4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 35 member F1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T1Q4-1", "PR:Q5T1Q4-1", "ENSEMBL:ENSP00000353557", "ENSEMBL:ENSP00000353557.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NR50-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "translation initiation factor eIF2B subunit gamma isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR50-1", "PR:Q9NR50-1", "ENSEMBL:ENSP00000353575", "ENSEMBL:ENSP00000353575.2"], "information_content": 100.0}
{"id": "MONDO:0002337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intra-abdominal hemangioma", "equivalent_identifiers": ["MONDO:0002337", "DOID:254", "UMLS:C0154052", "MEDDRA:10019394", "MEDDRA:10022728", "MEDDRA:10055394", "MEDDRA:10055901", "NCIT:C3635", "SNOMEDCT:189197001", "medgen:57583", "ICD10:D18.03", "ICD9:228.04"], "information_content": 87.2}
{"id": "UniProtKB:O60462-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuropilin-2 isoform A22 (human)", "equivalent_identifiers": ["UniProtKB:O60462-1", "PR:O60462-1", "ENSEMBL:ENSP00000353582", "ENSEMBL:ENSP00000353582.3"], "information_content": 100.0}
{"id": "UniProtKB:P35580-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin-10 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P35580-4", "PR:P35580-4", "ENSEMBL:ENSP00000353590", "ENSEMBL:ENSP00000353590.4", "ENSEMBL:ENSP00000508862", "ENSEMBL:ENSP00000508862.1", "ENSEMBL:ENSP00000509091", "ENSEMBL:ENSP00000509091.1", "ENSEMBL:ENSP00000509241", "ENSEMBL:ENSP00000509241.1"], "information_content": 100.0}
{"id": "NCBIGene:445329", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SULT1A4", "equivalent_identifiers": ["NCBIGene:445329", "ENSEMBL:ENSG00000213648", "HGNC:30004", "OMIM:615819", "UMLS:C1823148", "UniProtKB:P0DMN0", "PR:P0DMN0", "ENSEMBL:ENSP00000353600", "ENSEMBL:ENSP00000353600.8"], "information_content": 100.0}
{"id": "UniProtKB:Q14574-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "desmocollin-3 isoform h3A (human)", "equivalent_identifiers": ["UniProtKB:Q14574-1", "PR:Q14574-1", "ENSEMBL:ENSP00000353608", "ENSEMBL:ENSP00000353608.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWE3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "colipase-like protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWE3-2", "PR:Q6UWE3-2", "ENSEMBL:ENSP00000353639", "ENSEMBL:ENSP00000353639.2"], "information_content": 100.0}
{"id": "UniProtKB:Q58EX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "puratrophin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q58EX7-1", "PR:Q58EX7-1", "ENSEMBL:ENSP00000353646", "ENSEMBL:ENSP00000353646.5", "ENSEMBL:ENSP00000368649", "ENSEMBL:ENSP00000368649.3", "ENSEMBL:ENSP00000401118", "ENSEMBL:ENSP00000401118.2"], "information_content": 100.0}
{"id": "UniProtKB:Q3MIS6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 528 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3MIS6-1", "PR:Q3MIS6-1", "ENSEMBL:ENSP00000353652", "ENSEMBL:ENSP00000353652.3"], "information_content": 100.0}
{"id": "MONDO:0019409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "idiopathic juvenile osteoporosis", "equivalent_identifiers": ["MONDO:0019409", "DOID:12559", "OMIM:259750", "orphanet:85193", "UMLS:C0158447", "UMLS:C0264080", "MESH:C537700", "MEDDRA:10021236", "MEDDRA:10088561", "NCIT:C119996", "SNOMEDCT:3345002", "medgen:120494", "icd11.foundation:183642011", "ICD9:733.02"], "information_content": 100.0}
{"id": "NCBIGene:1284", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL4A2", "equivalent_identifiers": ["NCBIGene:1284", "ENSEMBL:ENSG00000134871", "HGNC:2203", "OMIM:120090", "UMLS:C1413583", "UniProtKB:P08572", "PR:P08572", "ENSEMBL:ENSP00000353654", "ENSEMBL:ENSP00000353654.5", "ENSEMBL:ENSP00000383027", "ENSEMBL:ENSP00000383027.4", "UMLS:C1689848", "UMLS:C4723814", "MESH:C502625"], "information_content": 83.6}
{"id": "MONDO:0013773", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "porencephaly 2", "equivalent_identifiers": ["MONDO:0013773", "DOID:0112314", "OMIM:614483", "UMLS:C3280970", "medgen:482600"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMY3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SPOC domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMY3-1", "PR:Q6ZMY3-1", "ENSEMBL:ENSP00000353670", "ENSEMBL:ENSP00000353670.2"], "information_content": 100.0}
{"id": "UniProtKB:A2RUR9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 144A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2RUR9-1", "PR:A2RUR9-1", "ENSEMBL:ENSP00000353717", "ENSEMBL:ENSP00000353717.8"], "information_content": 100.0}
{"id": "UniProtKB:P23141-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "liver carboxylesterase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P23141-2", "PR:P23141-2", "ENSEMBL:ENSP00000353720", "ENSEMBL:ENSP00000353720.4"], "information_content": 100.0}
{"id": "MONDO:0005995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trichostrongylosis", "equivalent_identifiers": ["MONDO:0005995", "DOID:1254", "EFO:0007523", "UMLS:C0040948", "MESH:D014253", "MEDDRA:10044627", "SNOMEDCT:33710003", "medgen:11908", "ICD10:B81.2", "ICD9:127.6"], "information_content": 100.0}
{"id": "NCBIGene:1803", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPP4", "equivalent_identifiers": ["NCBIGene:1803", "ENSEMBL:ENSG00000197635", "HGNC:3009", "OMIM:102720", "UMLS:C1414141", "UniProtKB:A0A7I2V2X8", "ENSEMBL:ENSP00000503161", "ENSEMBL:ENSP00000503161.1", "UniProtKB:P27487", "PR:P27487", "ENSEMBL:ENSP00000353731", "ENSEMBL:ENSP00000353731.3", "UMLS:C1447020", "MESH:C042807"], "information_content": 87.2}
{"id": "UniProtKB:Q9UM63-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein PLAGL1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UM63-1", "PR:Q9UM63-1", "ENSEMBL:ENSP00000346810", "ENSEMBL:ENSP00000346810.2", "ENSEMBL:ENSP00000353734", "ENSEMBL:ENSP00000353734.2", "ENSEMBL:ENSP00000356543", "ENSEMBL:ENSP00000356543.1", "ENSEMBL:ENSP00000400060", "ENSEMBL:ENSP00000400060.1", "ENSEMBL:ENSP00000400929", "ENSEMBL:ENSP00000400929.1", "ENSEMBL:ENSP00000486355", "ENSEMBL:ENSP00000486355.1", "ENSEMBL:ENSP00000496979", "ENSEMBL:ENSP00000496979.1", "ENSEMBL:ENSP00000497363", "ENSEMBL:ENSP00000497363.1", "ENSEMBL:ENSP00000497492", "ENSEMBL:ENSP00000497492.1", "ENSEMBL:ENSP00000501459", "ENSEMBL:ENSP00000501459.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NS56-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase Topors isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NS56-1", "PR:Q9NS56-1", "ENSEMBL:ENSP00000353735", "ENSEMBL:ENSP00000353735.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96MG8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MG8-1", "PR:Q96MG8-1", "ENSEMBL:ENSP00000353739", "ENSEMBL:ENSP00000353739.5", "ENSEMBL:ENSP00000428099", "ENSEMBL:ENSP00000428099.1"], "information_content": 100.0}
{"id": "UniProtKB:P62495-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic peptide chain release factor subunit 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62495-1", "PR:P62495-1", "ENSEMBL:ENSP00000353741", "ENSEMBL:ENSP00000353741.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULZ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "matrix metalloproteinase-17 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9ULZ9-1", "PR:Q9ULZ9-1", "ENSEMBL:ENSP00000353767", "ENSEMBL:ENSP00000353767.1"], "information_content": 100.0}
{"id": "NCBIGene:58506", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCAF1", "equivalent_identifiers": ["NCBIGene:58506", "ENSEMBL:ENSG00000126461", "HGNC:30403", "OMIM:617264", "UMLS:C2239916", "UniProtKB:Q9H7N4", "PR:Q9H7N4", "ENSEMBL:ENSP00000353769", "ENSEMBL:ENSP00000353769.2", "UMLS:C1612013", "MESH:C503566"], "information_content": 95.4}
{"id": "UniProtKB:P31350-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribonucleoside-diphosphate reductase subunit M2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P31350-2", "PR:P31350-2", "ENSEMBL:ENSP00000353770", "ENSEMBL:ENSP00000353770.2"], "information_content": 100.0}
{"id": "NCBIGene:11076", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPPP", "equivalent_identifiers": ["NCBIGene:11076", "ENSEMBL:ENSG00000171368", "HGNC:24164", "OMIM:608773", "UMLS:C1837441", "UniProtKB:O94811", "PR:O94811", "ENSEMBL:ENSP00000353785", "ENSEMBL:ENSP00000353785.5", "UMLS:C0765198", "MESH:C118136", "UniProtKB:Q4L233"], "information_content": 100.0}
{"id": "UniProtKB:P48067-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium- and chloride-dependent glycine transporter 1 isoform hGlyT-1C (human)", "equivalent_identifiers": ["UniProtKB:P48067-1", "PR:P48067-1", "ENSEMBL:ENSP00000353791", "ENSEMBL:ENSP00000353791.2"], "information_content": 100.0}
{"id": "UniProtKB:O75717-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat and HMG-box DNA-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75717-1", "PR:O75717-1", "ENSEMBL:ENSP00000353793", "ENSEMBL:ENSP00000353793.3"], "information_content": 100.0}
{"id": "NCBIGene:415116", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIM3", "equivalent_identifiers": ["NCBIGene:415116", "ENSEMBL:ENSG00000198355", "HGNC:19310", "OMIM:610580", "UMLS:C1538648", "UniProtKB:Q86V86", "PR:Q86V86", "ENSEMBL:ENSP00000353824", "ENSEMBL:ENSP00000353824.4", "UMLS:C1567658", "MESH:C499249"], "information_content": 90.9}
{"id": "UniProtKB:P36776-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Lon protease homolog, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P36776-1", "PR:P36776-1", "ENSEMBL:ENSP00000353826", "ENSEMBL:ENSP00000353826.2"], "information_content": 100.0}
{"id": "MONDO:0000233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Japanese spotted fever", "equivalent_identifiers": ["MONDO:0000233", "DOID:0050050", "UMLS:C2108396", "MEDDRA:10070494", "medgen:1371298"], "information_content": 100.0}
{"id": "UniProtKB:O15075-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase DCLK1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15075-1", "PR:O15075-1", "ENSEMBL:ENSP00000353846", "ENSEMBL:ENSP00000353846.3"], "information_content": 100.0}
{"id": "UniProtKB:O14713-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin beta-1-binding protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14713-1", "PR:O14713-1", "ENSEMBL:ENSP00000347504", "ENSEMBL:ENSP00000347504.4", "ENSEMBL:ENSP00000353850", "ENSEMBL:ENSP00000353850.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQR1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 148 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQR1-1", "PR:Q9UQR1-1", "ENSEMBL:ENSP00000353863", "ENSEMBL:ENSP00000353863.4", "ENSEMBL:ENSP00000419322", "ENSEMBL:ENSP00000419322.1", "ENSEMBL:ENSP00000420038", "ENSEMBL:ENSP00000420038.2", "ENSEMBL:ENSP00000420335", "ENSEMBL:ENSP00000420335.1", "ENSEMBL:ENSP00000420448", "ENSEMBL:ENSP00000420448.1", "ENSEMBL:ENSP00000514760", "ENSEMBL:ENSP00000514760.1"], "information_content": 100.0}
{"id": "UniProtKB:O75914-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase PAK 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O75914-3", "PR:O75914-3", "ENSEMBL:ENSP00000353864", "ENSEMBL:ENSP00000353864.4", "ENSEMBL:ENSP00000428921", "ENSEMBL:ENSP00000428921.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NR96-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Toll-like receptor 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR96-1", "PR:Q9NR96-1", "ENSEMBL:ENSP00000353874", "ENSEMBL:ENSP00000353874.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCE9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "placental protein 13-like isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCE9-2", "PR:Q8TCE9-2", "ENSEMBL:ENSP00000353893", "ENSEMBL:ENSP00000353893.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6M4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "casein kinase I isoform gamma-3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6M4-2", "PR:Q9Y6M4-2", "ENSEMBL:ENSP00000334735", "ENSEMBL:ENSP00000334735.5", "ENSEMBL:ENSP00000353904", "ENSEMBL:ENSP00000353904.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYC5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-(1,6)-fucosyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYC5-1", "PR:Q9BYC5-1", "ENSEMBL:ENSP00000353910", "ENSEMBL:ENSP00000353910.5", "ENSEMBL:ENSP00000378087", "ENSEMBL:ENSP00000378087.2", "ENSEMBL:ENSP00000501213", "ENSEMBL:ENSP00000501213.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13639-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-hydroxytryptamine receptor 4 isoform h5-HT4(I) (human)", "equivalent_identifiers": ["UniProtKB:Q13639-8", "PR:Q13639-8", "ENSEMBL:ENSP00000353915", "ENSEMBL:ENSP00000353915.3"], "information_content": 100.0}
{"id": "UniProtKB:P78563-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "double-stranded RNA-specific editase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78563-1", "PR:P78563-1", "ENSEMBL:ENSP00000353920", "ENSEMBL:ENSP00000353920.3", "ENSEMBL:ENSP00000387480", "ENSEMBL:ENSP00000387480.2", "ENSEMBL:ENSP00000414600", "ENSEMBL:ENSP00000414600.2", "ENSEMBL:ENSP00000435381", "ENSEMBL:ENSP00000435381.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y462-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 711 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y462-3", "PR:Q9Y462-3", "ENSEMBL:ENSP00000353922", "ENSEMBL:ENSP00000353922.4", "ENSEMBL:ENSP00000502839", "ENSEMBL:ENSP00000502839.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IY82-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein regulatory complex subunit 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY82-1", "PR:Q8IY82-1", "ENSEMBL:ENSP00000353942", "ENSEMBL:ENSP00000353942.3", "ENSEMBL:ENSP00000377869", "ENSEMBL:ENSP00000377869.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96NY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chloride intracellular channel protein 6 isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q96NY7-1", "PR:Q96NY7-1", "ENSEMBL:ENSP00000353959", "ENSEMBL:ENSP00000353959.3"], "information_content": 100.0}
{"id": "NCBIGene:353323", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP12-2", "equivalent_identifiers": ["NCBIGene:353323", "ENSEMBL:ENSG00000221864", "HGNC:20530", "UMLS:C1426998", "UniProtKB:P59991", "PR:P59991", "ENSEMBL:ENSP00000354001", "ENSEMBL:ENSP00000354001.3"], "information_content": 100.0}
{"id": "UniProtKB:P02724-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycophorin-A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P02724-1", "PR:P02724-1", "ENSEMBL:ENSP00000354003", "ENSEMBL:ENSP00000354003.4", "ENSEMBL:ENSP00000493142", "ENSEMBL:ENSP00000493142.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BX84-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transient receptor potential cation channel subfamily M member 6 isoform hTRPM6a (human)", "equivalent_identifiers": ["UniProtKB:Q9BX84-1", "PR:Q9BX84-1", "ENSEMBL:ENSP00000354006", "ENSEMBL:ENSP00000354006.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96G97-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "seipin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96G97-4", "PR:Q96G97-4", "ENSEMBL:ENSP00000354032", "ENSEMBL:ENSP00000354032.5", "ENSEMBL:ENSP00000433888", "ENSEMBL:ENSP00000433888.2", "ENSEMBL:ENSP00000505838", "ENSEMBL:ENSP00000505838.1"], "information_content": 100.0}
{"id": "NCBIGene:55833", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBAP2", "equivalent_identifiers": ["NCBIGene:55833", "ENSEMBL:ENSG00000137073", "HGNC:14185", "UMLS:C1422472", "UniProtKB:A0A8C8MQ70", "ENSEMBL:ENSP00000354039", "ENSEMBL:ENSP00000354039.2", "UniProtKB:B4DH66", "UMLS:C5772976", "MESH:C000724001", "UniProtKB:B7Z7P2", "UniProtKB:Q5T6F2", "PR:Q5T6F2", "UniProtKB:Q9P0H6"]}
{"id": "UniProtKB:Q9BZE4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTP-binding protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZE4-1", "PR:Q9BZE4-1", "ENSEMBL:ENSP00000354040", "ENSEMBL:ENSP00000354040.4"], "information_content": 100.0}
{"id": "NCBIGene:83468", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLT8D2", "equivalent_identifiers": ["NCBIGene:83468", "ENSEMBL:ENSG00000120820", "HGNC:24890", "UMLS:C1539577", "UniProtKB:Q9H1C3", "PR:Q9H1C3", "ENSEMBL:ENSP00000354053", "ENSEMBL:ENSP00000354053.4", "ENSEMBL:ENSP00000447450", "ENSEMBL:ENSP00000447450.1", "ENSEMBL:ENSP00000449750", "ENSEMBL:ENSP00000449750.1", "UMLS:C5882287", "MESH:C000729333"], "information_content": 95.4}
{"id": "NCBIGene:80274", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCUBE1", "equivalent_identifiers": ["NCBIGene:80274", "ENSEMBL:ENSG00000159307", "HGNC:13441", "OMIM:611746", "UMLS:C1421995", "UniProtKB:A0JP65", "UMLS:C1173176", "MESH:C469998", "UniProtKB:Q6ZS56", "UniProtKB:Q86TI6", "UniProtKB:Q8IWY4", "PR:Q8IWY4", "ENSEMBL:ENSP00000354080", "ENSEMBL:ENSP00000354080.3"], "information_content": 89.4}
{"id": "UniProtKB:Q8IWZ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and KH domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWZ3-1", "PR:Q8IWZ3-1", "ENSEMBL:ENSP00000354085", "ENSEMBL:ENSP00000354085.2"], "information_content": 100.0}
{"id": "NCBIGene:100049587", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIGLEC14", "equivalent_identifiers": ["NCBIGene:100049587", "ENSEMBL:ENSG00000254415", "HGNC:32926", "OMIM:618132", "UMLS:C2239926", "UniProtKB:Q08ET2", "PR:Q08ET2", "ENSEMBL:ENSP00000354090", "ENSEMBL:ENSP00000354090.5", "UMLS:C1743957", "MESH:C514213"], "information_content": 95.4}
{"id": "UniProtKB:Q8NE09-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NE09-1", "PR:Q8NE09-1", "ENSEMBL:ENSP00000354109", "ENSEMBL:ENSP00000354109.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3Z4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily C member 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3Z4-1", "PR:Q9H3Z4-1", "ENSEMBL:ENSP00000354111", "ENSEMBL:ENSP00000354111.4"], "information_content": 100.0}
{"id": "UniProtKB:P55884-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 3 subunit B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P55884-1", "PR:P55884-1", "ENSEMBL:ENSP00000354125", "ENSEMBL:ENSP00000354125.4", "ENSEMBL:ENSP00000380206", "ENSEMBL:ENSP00000380206.2"], "information_content": 100.0}
{"id": "UniProtKB:Q2M296-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methenyltetrahydrofolate synthase domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2M296-1", "PR:Q2M296-1", "ENSEMBL:ENSP00000354152", "ENSEMBL:ENSP00000354152.6"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUD2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ELKS/Rab6-interacting/CAST family member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUD2-1", "PR:Q8IUD2-1", "ENSEMBL:ENSP00000354158", "ENSEMBL:ENSP00000354158.3", "ENSEMBL:ENSP00000380386", "ENSEMBL:ENSP00000380386.4", "ENSEMBL:ENSP00000468263", "ENSEMBL:ENSP00000468263.1"], "information_content": 100.0}
{"id": "NCBIGene:83541", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM110A", "equivalent_identifiers": ["NCBIGene:83541", "ENSEMBL:ENSG00000125898", "HGNC:16188", "OMIM:611393", "UMLS:C1424065", "UniProtKB:Q9BQ89", "PR:Q9BQ89", "ENSEMBL:ENSP00000246100", "ENSEMBL:ENSP00000246100.3", "ENSEMBL:ENSP00000354163", "ENSEMBL:ENSP00000354163.2", "ENSEMBL:ENSP00000371365", "ENSEMBL:ENSP00000371365.1", "ENSEMBL:ENSP00000371367", "ENSEMBL:ENSP00000371367.3", "ENSEMBL:ENSP00000445228", "ENSEMBL:ENSP00000445228.1", "UMLS:C2002398", "MESH:C523017"], "information_content": 95.4}
{"id": "MONDO:0019805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "twin to twin transfusion syndrome", "equivalent_identifiers": ["MONDO:0019805", "DOID:13576", "orphanet:95431", "EFO:1001221", "UMLS:C2909036", "MESH:D005330", "MEDDRA:10058328", "NCIT:C113824", "SNOMEDCT:13404009", "medgen:777055", "icd11.foundation:850604370", "ICD10:O43.02", "HP:0031110"], "information_content": 95.4}
{"id": "UniProtKB:Q9H832-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 Z isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H832-1", "PR:Q9H832-1", "ENSEMBL:ENSP00000354201", "ENSEMBL:ENSP00000354201.5"], "information_content": 100.0}
{"id": "NCBIGene:387990", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOMM20L", "equivalent_identifiers": ["NCBIGene:387990", "ENSEMBL:ENSG00000196860", "HGNC:33752", "UMLS:C2680496", "UniProtKB:Q6UXN7", "PR:Q6UXN7", "ENSEMBL:ENSP00000354204", "ENSEMBL:ENSP00000354204.2"], "information_content": 95.4}
{"id": "NCBIGene:9953", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HS3ST3B1", "equivalent_identifiers": ["NCBIGene:9953", "ENSEMBL:ENSG00000125430", "HGNC:5198", "OMIM:604058", "UMLS:C1415731", "UniProtKB:Q9Y662", "PR:Q9Y662", "ENSEMBL:ENSP00000354213", "ENSEMBL:ENSP00000354213.2", "ENSEMBL:ENSP00000436078", "ENSEMBL:ENSP00000436078.1"], "information_content": 95.4}
{"id": "NCBIGene:10848", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R13L", "equivalent_identifiers": ["NCBIGene:10848", "ENSEMBL:ENSG00000104881", "HGNC:18838", "OMIM:607463", "UMLS:C1538712", "UniProtKB:Q8WUF5", "PR:Q8WUF5", "ENSEMBL:ENSP00000354218", "ENSEMBL:ENSP00000354218.4", "ENSEMBL:ENSP00000403902", "ENSEMBL:ENSP00000403902.1", "UMLS:C1431899", "MESH:C119612"], "information_content": 95.4}
{"id": "NCBIGene:51660", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MPC1", "equivalent_identifiers": ["NCBIGene:51660", "ENSEMBL:ENSG00000060762", "HGNC:21606", "OMIM:614738", "UMLS:C1427642", "UniProtKB:Q9Y5U8", "PR:Q9Y5U8", "ENSEMBL:ENSP00000354223", "ENSEMBL:ENSP00000354223.6", "UMLS:C3493447", "MESH:C573718"], "information_content": 92.8}
{"id": "UniProtKB:Q9Y2A7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Nck-associated protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2A7-2", "PR:Q9Y2A7-2", "ENSEMBL:ENSP00000354251", "ENSEMBL:ENSP00000354251.2"], "information_content": 100.0}
{"id": "UniProtKB:Q66K79-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carboxypeptidase Z isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q66K79-1", "PR:Q66K79-1", "ENSEMBL:ENSP00000354255", "ENSEMBL:ENSP00000354255.4"], "information_content": 100.0}
{"id": "MONDO:0008409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 7A, myosin storage, autosomal dominant", "equivalent_identifiers": ["MONDO:0008409", "DOID:0111269", "OMIM:608358", "orphanet:636965", "UMLS:C1842160", "UMLS:C4759774", "MESH:C564253", "SNOMEDCT:129620000", "SNOMEDCT:699267007", "medgen:374868"], "information_content": 100.0}
{"id": "NCBIGene:5646", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS3", "equivalent_identifiers": ["NCBIGene:5646", "ENSEMBL:ENSG00000010438", "HGNC:9486", "OMIM:613578", "UMLS:C1418972", "UniProtKB:A0A7P0MP65", "ENSEMBL:ENSP00000354280", "ENSEMBL:ENSP00000354280.6", "UniProtKB:P35030", "PR:P35030", "UMLS:C1611556", "MESH:C040749", "UniProtKB:Q7Z5F4"]}
{"id": "NCBIGene:1504", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTRB1", "equivalent_identifiers": ["NCBIGene:1504", "ENSEMBL:ENSG00000168925", "HGNC:2521", "OMIM:118890", "UMLS:C1413806", "UniProtKB:P17538", "PR:P17538", "ENSEMBL:ENSP00000354294", "ENSEMBL:ENSP00000354294.4", "UMLS:C2606397"], "information_content": 85.5}
{"id": "UniProtKB:Q9NYQ3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-hydroxyacid oxidase 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYQ3-2", "PR:Q9NYQ3-2", "ENSEMBL:ENSP00000354314", "ENSEMBL:ENSP00000354314.4"], "information_content": 100.0}
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{"id": "UniProtKB:P42224-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal transducer and activator of transcription 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P42224-1", "PR:P42224-1", "ENSEMBL:ENSP00000354394", "ENSEMBL:ENSP00000354394.4", "ENSEMBL:ENSP00000386244", "ENSEMBL:ENSP00000386244.1", "ENSEMBL:ENSP00000388240", "ENSEMBL:ENSP00000388240.2", "ENSEMBL:ENSP00000438703", "ENSEMBL:ENSP00000438703.2", "ENSEMBL:ENSP00000513582", "ENSEMBL:ENSP00000513582.1"], "information_content": 88.2}
{"id": "MONDO:0013599", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome", "equivalent_identifiers": ["MONDO:0013599", "DOID:0111946", "OMIM:614162", "orphanet:391487", "UMLS:C3279990", "NCIT:C172099", "medgen:481620"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-C motif chemokine 28 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRJ3-1", "PR:Q9NRJ3-1", "ENSEMBL:ENSP00000354416", "ENSEMBL:ENSP00000354416.4", "ENSEMBL:ENSP00000426424", "ENSEMBL:ENSP00000426424.1"], "information_content": 100.0}
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{"id": "NCBIGene:128239", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IQGAP3", "equivalent_identifiers": ["NCBIGene:128239", "ENSEMBL:ENSG00000183856", "HGNC:20669", "OMIM:621092", "UMLS:C1427069", "UniProtKB:Q86VI3", "PR:Q86VI3", "ENSEMBL:ENSP00000354451", "ENSEMBL:ENSP00000354451.2", "ENSEMBL:ENSP00000517286", "ENSEMBL:ENSP00000517286.1", "UMLS:C3884077", "MESH:C000594387"], "information_content": 89.4}
{"id": "NCBIGene:80108", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFP2", "equivalent_identifiers": ["NCBIGene:80108", "ENSEMBL:ENSG00000198939", "HGNC:26138", "UMLS:C1823946", "UniProtKB:Q6ZN57", "PR:Q6ZN57", "ENSEMBL:ENSP00000354453", "ENSEMBL:ENSP00000354453.2", "ENSEMBL:ENSP00000430531", "ENSEMBL:ENSP00000430531.1", "ENSEMBL:ENSP00000430980", "ENSEMBL:ENSP00000430980.1"], "information_content": 95.4}
{"id": "NCBIGene:731", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C8A", "equivalent_identifiers": ["NCBIGene:731", "ENSEMBL:ENSG00000157131", "HGNC:1352", "OMIM:120950", "UMLS:C1413023", "UniProtKB:P07357", "PR:P07357", "ENSEMBL:ENSP00000354458", "ENSEMBL:ENSP00000354458.3", "UMLS:C5552851"], "information_content": 89.4}
{"id": "UniProtKB:Q8N4B1-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sesquipedalian-1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4B1-4", "PR:Q8N4B1-4", "ENSEMBL:ENSP00000354461", "ENSEMBL:ENSP00000354461.3"], "information_content": 100.0}
{"id": "UniProtKB:A0A8J8YWN6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A8J8YWN6_HUMAN cytochrome-b5 reductase (trembl)", "equivalent_identifiers": ["UniProtKB:A0A8J8YWN6", "ENSEMBL:ENSP00000354468", "ENSEMBL:ENSP00000354468.5"]}
{"id": "UniProtKB:Q12772-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sterol regulatory element-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12772-1", "PR:Q12772-1", "ENSEMBL:ENSP00000354476", "ENSEMBL:ENSP00000354476.4"], "information_content": 100.0}
{"id": "UniProtKB:P56177-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein DLX-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P56177-1", "PR:P56177-1", "ENSEMBL:ENSP00000354478", "ENSEMBL:ENSP00000354478.4", "ENSEMBL:ENSP00000517836", "ENSEMBL:ENSP00000517836.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0B6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BMP/retinoic acid-inducible neural-specific protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0B6-1", "PR:Q9C0B6-1", "ENSEMBL:ENSP00000354481", "ENSEMBL:ENSP00000354481.4"], "information_content": 100.0}
{"id": "NCBIGene:92235", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STYXL2", "equivalent_identifiers": ["NCBIGene:92235", "ENSEMBL:ENSG00000198842", "HGNC:25034", "UMLS:C1824992", "UniProtKB:Q5VZP5", "PR:Q5VZP5", "ENSEMBL:ENSP00000271385", "ENSEMBL:ENSP00000271385.5", "ENSEMBL:ENSP00000354483", "ENSEMBL:ENSP00000354483.2", "ENSEMBL:ENSP00000404874", "ENSEMBL:ENSP00000404874.1", "UMLS:C1999639", "MESH:C522887"], "information_content": 100.0}
{"id": "NCBIGene:7135", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNNI1", "equivalent_identifiers": ["NCBIGene:7135", "ENSEMBL:ENSG00000159173", "HGNC:11945", "OMIM:191042", "UMLS:C1420824", "UniProtKB:P19237", "PR:P19237", "ENSEMBL:ENSP00000337022", "ENSEMBL:ENSP00000337022.4", "ENSEMBL:ENSP00000354488", "ENSEMBL:ENSP00000354488.4", "ENSEMBL:ENSP00000356281", "ENSEMBL:ENSP00000356281.1", "UMLS:C3657364", "MESH:C581522"], "information_content": 100.0}
{"id": "NCBIGene:477", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP1A2", "equivalent_identifiers": ["NCBIGene:477", "ENSEMBL:ENSG00000018625", "HGNC:800", "OMIM:182340", "UMLS:C1412629", "UniProtKB:A0A0S2Z3W6", "UMLS:C1454965", "MESH:C498531", "UniProtKB:B4DIQ8", "UniProtKB:P50993", "PR:P50993", "ENSEMBL:ENSP00000354490", "ENSEMBL:ENSP00000354490.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y2M0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fanconi-associated nuclease 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2M0-1", "PR:Q9Y2M0-1", "ENSEMBL:ENSP00000354497", "ENSEMBL:ENSP00000354497.4", "ENSEMBL:ENSP00000484956", "ENSEMBL:ENSP00000484956.1", "ENSEMBL:ENSP00000499534", "ENSEMBL:ENSP00000499534.1", "ENSEMBL:ENSP00000499638", "ENSEMBL:ENSP00000499638.1", "ENSEMBL:ENSP00000499703", "ENSEMBL:ENSP00000499703.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86UU1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology-like domain family B member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UU1-1", "PR:Q86UU1-1", "ENSEMBL:ENSP00000354498", "ENSEMBL:ENSP00000354498.2", "ENSEMBL:ENSP00000469820", "ENSEMBL:ENSP00000469820.1"], "information_content": 100.0}
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{"id": "UniProtKB:O14525-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "astrotactin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14525-2", "PR:O14525-2", "ENSEMBL:ENSP00000354536", "ENSEMBL:ENSP00000354536.2"], "information_content": 100.0}
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{"id": "NCBIGene:4519", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT-CYB", "equivalent_identifiers": ["NCBIGene:4519", "ENSEMBL:ENSG00000198727", "HGNC:7427", "OMIM:516020", "UMLS:C1537988", "UniProtKB:P00156", "PR:P00156", "ENSEMBL:ENSP00000354554", "ENSEMBL:ENSP00000354554.2", "UniProtKB:Q0ZFD6"], "information_content": 92.8}
{"id": "MONDO:0001827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "white piedra", "equivalent_identifiers": ["MONDO:0001827", "DOID:13902", "UMLS:C0040249", "MEDDRA:10043865", "MEDDRA:10080473", "SNOMEDCT:35586003", "medgen:452113", "icd11.foundation:303653536", "ICD10:B36.2", "ICD9:111.2"], "information_content": 100.0}
{"id": "NCBIGene:2475", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTOR", "equivalent_identifiers": ["NCBIGene:2475", "ENSEMBL:ENSG00000198793", "HGNC:3942", "OMIM:601231", "UMLS:C1414805", "UniProtKB:A0A8V8TQ52", "ENSEMBL:ENSP00000515198", "ENSEMBL:ENSP00000515198.1", "UniProtKB:P42345", "PR:P42345", "ENSEMBL:ENSP00000354558", "ENSEMBL:ENSP00000354558.4", "ENSEMBL:ENSP00000515200", "ENSEMBL:ENSP00000515200.2", "UMLS:C1307407", "MESH:C546842"], "information_content": 88.2}
{"id": "UniProtKB:Q92845-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-associated protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92845-1", "PR:Q92845-1", "ENSEMBL:ENSP00000354560", "ENSEMBL:ENSP00000354560.2"], "information_content": 100.0}
{"id": "NCBIGene:916", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD3E", "equivalent_identifiers": ["NCBIGene:916", "ENSEMBL:ENSG00000198851", "HGNC:1674", "OMIM:186830", "UMLS:C1332711", "UniProtKB:P07766", "PR:P07766", "ENSEMBL:ENSP00000354566", "ENSEMBL:ENSP00000354566.4", "UMLS:C0759310", "MESH:C115335"], "information_content": 90.9}
{"id": "UniProtKB:Q9UPN3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-actin cross-linking factor 1 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPN3-2", "PR:Q9UPN3-2", "ENSEMBL:ENSP00000354573", "ENSEMBL:ENSP00000354573.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z2W9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein bL21m isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2W9-1", "PR:Q7Z2W9-1", "ENSEMBL:ENSP00000354580", "ENSEMBL:ENSP00000354580.2"], "information_content": 100.0}
{"id": "MONDO:0033367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 58", "equivalent_identifiers": ["MONDO:0033367", "DOID:0080285", "OMIM:617830", "UMLS:C4693367", "medgen:1646861"], "information_content": 100.0}
{"id": "NCBIGene:257202", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPX6", "equivalent_identifiers": ["NCBIGene:257202", "ENSEMBL:ENSG00000198704", "HGNC:4558", "OMIM:607913", "UMLS:C1415280", "UniProtKB:P59796", "PR:P59796", "ENSEMBL:ENSP00000354581", "ENSEMBL:ENSP00000354581.1"], "information_content": 92.8}
{"id": "NCBIGene:113402", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SFT2D1", "equivalent_identifiers": ["NCBIGene:113402", "ENSEMBL:ENSG00000198818", "HGNC:21102", "UMLS:C1822699", "UniProtKB:Q8WV19", "PR:Q8WV19", "ENSEMBL:ENSP00000354590", "ENSEMBL:ENSP00000354590.3"], "information_content": 92.8}
{"id": "NCBIGene:9909", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DENND4B", "equivalent_identifiers": ["NCBIGene:9909", "ENSEMBL:ENSG00000198837", "HGNC:29044", "OMIM:619843", "UMLS:C1824914", "UniProtKB:O75064", "PR:O75064", "ENSEMBL:ENSP00000354597", "ENSEMBL:ENSP00000354597.4"], "information_content": 95.4}
{"id": "NCBIGene:7855", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FZD5", "equivalent_identifiers": ["NCBIGene:7855", "ENSEMBL:ENSG00000163251", "HGNC:4043", "OMIM:601723", "UMLS:C1414888", "UniProtKB:Q13467", "PR:Q13467", "ENSEMBL:ENSP00000354607", "ENSEMBL:ENSP00000354607.3", "UMLS:C1436756", "MESH:C498589"], "information_content": 89.4}
{"id": "UniProtKB:Q9UMR5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal thioesterase PPT2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMR5-3", "PR:Q9UMR5-3", "ENSEMBL:ENSP00000354608", "ENSEMBL:ENSP00000354608.2"], "information_content": 100.0}
{"id": "UniProtKB:P19961-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-amylase 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P19961-1", "PR:P19961-1", "ENSEMBL:ENSP00000354610", "ENSEMBL:ENSP00000354610.4", "ENSEMBL:ENSP00000507176", "ENSEMBL:ENSP00000507176.1"], "information_content": 100.0}
{"id": "UniProtKB:P23219-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostaglandin G/H synthase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P23219-1", "PR:P23219-1", "ENSEMBL:ENSP00000354612", "ENSEMBL:ENSP00000354612.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCE7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase SMURF1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9HCE7-1", "PR:Q9HCE7-1", "ENSEMBL:ENSP00000354621", "ENSEMBL:ENSP00000354621.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P202-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "whirlin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P202-1", "PR:Q9P202-1", "ENSEMBL:ENSP00000354623", "ENSEMBL:ENSP00000354623.3"], "information_content": 100.0}
{"id": "NCBIGene:4508", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT-ATP6", "equivalent_identifiers": ["NCBIGene:4508", "ENSEMBL:ENSG00000198899", "HGNC:7414", "OMIM:516060", "UMLS:C1537983", "UniProtKB:P00846", "PR:P00846", "ENSEMBL:ENSP00000354632", "ENSEMBL:ENSP00000354632.2", "UMLS:C1568184", "MESH:C501005", "UniProtKB:Q0ZFE3"], "information_content": 100.0}
{"id": "MONDO:0010781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ataxia and polyneuropathy, adult-onset", "equivalent_identifiers": ["MONDO:0010781", "DOID:0111750", "OMIM:500010", "UMLS:C1838916", "MESH:C564020", "medgen:374087"], "information_content": 100.0}
{"id": "MONDO:0004672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fasciolopsiasis", "equivalent_identifiers": ["MONDO:0004672", "DOID:888", "orphanet:658909", "UMLS:C0015656", "MEDDRA:10016235", "MEDDRA:10016236", "NCIT:C128388", "SNOMEDCT:54266002", "medgen:5125", "icd11.foundation:830824191", "ICD10:B66.5", "ICD9:121.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15544-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription initiation factor TFIID subunit 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15544-1", "PR:Q15544-1", "ENSEMBL:ENSP00000354633", "ENSEMBL:ENSP00000354633.4"], "information_content": 100.0}
{"id": "UniProtKB:P49895-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "type I iodothyronine deiodinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49895-1", "PR:P49895-1", "ENSEMBL:ENSP00000354643", "ENSEMBL:ENSP00000354643.4"], "information_content": 100.0}
{"id": "NCBIGene:63906", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPATCH3", "equivalent_identifiers": ["NCBIGene:63906", "ENSEMBL:ENSG00000198746", "HGNC:25720", "OMIM:617486", "UMLS:C1539596", "UniProtKB:Q96I76", "PR:Q96I76", "ENSEMBL:ENSP00000354645", "ENSEMBL:ENSP00000354645.5", "UMLS:C4508509", "MESH:C000621579"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0U3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0U3-1", "PR:Q9H0U3-1", "ENSEMBL:ENSP00000354649", "ENSEMBL:ENSP00000354649.6", "ENSEMBL:ENSP00000480732", "ENSEMBL:ENSP00000480732.1"], "information_content": 100.0}
{"id": "NCBIGene:4886", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPY1R", "equivalent_identifiers": ["NCBIGene:4886", "ENSEMBL:ENSG00000164128", "HGNC:7956", "OMIM:162641", "UMLS:C1417816", "UniProtKB:P25929", "PR:P25929", "ENSEMBL:ENSP00000354652", "ENSEMBL:ENSP00000354652.2", "UMLS:C3642153"], "information_content": 100.0}
{"id": "NCBIGene:51438", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEC2", "equivalent_identifiers": ["NCBIGene:51438", "ENSEMBL:ENSG00000046774", "HGNC:13574", "OMIM:300468", "UMLS:C1422072", "UniProtKB:Q9UBF1", "PR:Q9UBF1", "ENSEMBL:ENSP00000354660", "ENSEMBL:ENSP00000354660.2", "UMLS:C3539847", "MESH:C405429"], "information_content": 100.0}
{"id": "NCBIGene:4541", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT-ND6", "equivalent_identifiers": ["NCBIGene:4541", "ENSEMBL:ENSG00000198695", "HGNC:7462", "OMIM:516006", "UMLS:C1537995", "UniProtKB:P03923", "PR:P03923", "ENSEMBL:ENSP00000354665", "ENSEMBL:ENSP00000354665.2", "UMLS:C1679390", "MESH:C507225", "UniProtKB:U5Z977"], "information_content": 95.4}
{"id": "UniProtKB:Q8N5J2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5J2-1", "PR:Q8N5J2-1", "ENSEMBL:ENSP00000354669", "ENSEMBL:ENSP00000354669.7", "ENSEMBL:ENSP00000354814", "ENSEMBL:ENSP00000354814.5", "ENSEMBL:ENSP00000507359", "ENSEMBL:ENSP00000507359.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6P0Q8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-associated serine/threonine-protein kinase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P0Q8-1", "PR:Q6P0Q8-1", "ENSEMBL:ENSP00000354671", "ENSEMBL:ENSP00000354671.2"], "information_content": 100.0}
{"id": "NCBIGene:2882", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPX7", "equivalent_identifiers": ["NCBIGene:2882", "ENSEMBL:ENSG00000116157", "HGNC:4559", "OMIM:615784", "UMLS:C1415281", "UniProtKB:Q96SL4", "PR:Q96SL4", "ENSEMBL:ENSP00000354677", "ENSEMBL:ENSP00000354677.4", "UMLS:C3181666", "MESH:C558641"], "information_content": 95.4}
{"id": "UniProtKB:O60313-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynamin-like GTPase OPA1, mitochondrial isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:O60313-2", "PR:O60313-2", "ENSEMBL:ENSP00000354681", "ENSEMBL:ENSP00000354681.3"], "information_content": 100.0}
{"id": "UniProtKB:Q2M218-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 630 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2M218-1", "PR:Q2M218-1", "ENSEMBL:ENSP00000354683", "ENSEMBL:ENSP00000354683.4", "ENSEMBL:ENSP00000386393", "ENSEMBL:ENSP00000386393.3"], "information_content": 100.0}
{"id": "NCBIGene:22834", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF652", "equivalent_identifiers": ["NCBIGene:22834", "ENSEMBL:ENSG00000198740", "HGNC:29147", "OMIM:613907", "UMLS:C1538220", "UniProtKB:A8K9F2", "UMLS:C2000721", "MESH:C525993", "UniProtKB:D6RF85", "ENSEMBL:ENSP00000424848", "ENSEMBL:ENSP00000424848.1", "UniProtKB:Q9Y2D9", "PR:Q9Y2D9", "ENSEMBL:ENSP00000354686", "ENSEMBL:ENSP00000354686.2", "ENSEMBL:ENSP00000416305", "ENSEMBL:ENSP00000416305.2", "UMLS:C3275262"], "information_content": 100.0}
{"id": "NCBIGene:4535", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT-ND1", "equivalent_identifiers": ["NCBIGene:4535", "ENSEMBL:ENSG00000198888", "HGNC:7455", "OMIM:516000", "UMLS:C1537989", "UniProtKB:P03886", "PR:P03886", "ENSEMBL:ENSP00000354687", "ENSEMBL:ENSP00000354687.2", "UMLS:C1453485", "MESH:C097420", "UniProtKB:U5Z754"], "information_content": 100.0}
{"id": "MONDO:0000293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "coenurosis", "equivalent_identifiers": ["MONDO:0000293", "DOID:0050251", "UMLS:C0009225", "SNOMEDCT:24360007", "medgen:3142", "icd11.foundation:1545561495"], "information_content": 100.0}
{"id": "MONDO:0005987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toxascariasis", "equivalent_identifiers": ["MONDO:0005987", "DOID:3107", "EFO:0007515", "UMLS:C0040522", "MESH:D017227", "medgen:21221"], "information_content": 100.0}
{"id": "MONDO:0005739", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "echinostomiasis", "equivalent_identifiers": ["MONDO:0005739", "DOID:1218", "EFO:0007246", "UMLS:C0013514", "UMLS:C5551001", "MESH:D004451", "SNOMEDCT:36607007", "SNOMEDCT:52918004", "medgen:3956", "icd11.foundation:342249036", "ICD10:B66.8"], "information_content": 95.4}
{"id": "UniProtKB:Q8TCE6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DENN domain-containing protein 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCE6-1", "PR:Q8TCE6-1", "ENSEMBL:ENSP00000354688", "ENSEMBL:ENSP00000354688.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96H72-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc transporter ZIP13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96H72-1", "PR:Q96H72-1", "ENSEMBL:ENSP00000354689", "ENSEMBL:ENSP00000354689.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96RD9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fc receptor-like protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RD9-1", "PR:Q96RD9-1", "ENSEMBL:ENSP00000354691", "ENSEMBL:ENSP00000354691.3"], "information_content": 100.0}
{"id": "UniProtKB:Q12802-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-kinase anchor protein 13 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q12802-2", "PR:Q12802-2", "ENSEMBL:ENSP00000354718", "ENSEMBL:ENSP00000354718.2"], "information_content": 100.0}
{"id": "NCBIGene:9126", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMC3", "equivalent_identifiers": ["NCBIGene:9126", "ENSEMBL:ENSG00000108055", "HGNC:2468", "OMIM:606062", "UMLS:C1822780", "UniProtKB:Q9UQE7", "PR:Q9UQE7", "ENSEMBL:ENSP00000354720", "ENSEMBL:ENSP00000354720.5", "UMLS:C0535219", "MESH:C492318"], "information_content": 90.9}
{"id": "UniProtKB:Q9H2B4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sulfate anion transporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2B4-1", "PR:Q9H2B4-1", "ENSEMBL:ENSP00000354721", "ENSEMBL:ENSP00000354721.2", "ENSEMBL:ENSP00000381528", "ENSEMBL:ENSP00000381528.2"], "information_content": 100.0}
{"id": "NCBIGene:9086", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF1AY", "equivalent_identifiers": ["NCBIGene:9086", "ENSEMBL:ENSG00000198692", "HGNC:3252", "OMIM:400014", "UMLS:C1414325", "UniProtKB:A6NJH9", "ENSEMBL:ENSP00000372222", "ENSEMBL:ENSP00000372222.3", "UMLS:C2744875", "MESH:C546513", "UniProtKB:O14602", "PR:O14602", "ENSEMBL:ENSP00000354722", "ENSEMBL:ENSP00000354722.2"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z2G1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone H2B type W-T isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2G1-3", "PR:Q7Z2G1-3", "ENSEMBL:ENSP00000354723", "ENSEMBL:ENSP00000354723.5"], "information_content": 100.0}
{"id": "UniProtKB:Q3KNV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Polycomb group RING finger protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3KNV8-1", "PR:Q3KNV8-1", "ENSEMBL:ENSP00000354724", "ENSEMBL:ENSP00000354724.5", "ENSEMBL:ENSP00000420489", "ENSEMBL:ENSP00000420489.2"], "information_content": 100.0}
{"id": "NCBIGene:4539", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT-ND4L", "equivalent_identifiers": ["NCBIGene:4539", "ENSEMBL:ENSG00000212907", "HGNC:7460", "OMIM:516004", "UMLS:C1537993", "UniProtKB:P03901", "PR:P03901", "ENSEMBL:ENSP00000354728", "ENSEMBL:ENSP00000354728.1", "UniProtKB:Q7GXZ4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2G9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein strawberry notch homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2G9-1", "PR:Q9Y2G9-1", "ENSEMBL:ENSP00000354733", "ENSEMBL:ENSP00000354733.2", "ENSEMBL:ENSP00000477651", "ENSEMBL:ENSP00000477651.1", "ENSEMBL:ENSP00000488808", "ENSEMBL:ENSP00000488808.1"], "information_content": 100.0}
{"id": "UniProtKB:P30050-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein uL11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P30050-1", "PR:P30050-1", "ENSEMBL:ENSP00000354739", "ENSEMBL:ENSP00000354739.5"], "information_content": 100.0}
{"id": "NCBIGene:55705", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IPO9", "equivalent_identifiers": ["NCBIGene:55705", "ENSEMBL:ENSG00000198700", "HGNC:19425", "OMIM:620893", "UMLS:C1426235", "UniProtKB:Q96P70", "PR:Q96P70", "ENSEMBL:ENSP00000354742", "ENSEMBL:ENSP00000354742.4", "UMLS:C3849398", "MESH:C587011"], "information_content": 89.4}
{"id": "NCBIGene:28958", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COA3", "equivalent_identifiers": ["NCBIGene:28958", "ENSEMBL:ENSG00000183978", "HGNC:24990", "OMIM:614775", "UMLS:C1824580", "UniProtKB:Q9Y2R0", "PR:Q9Y2R0", "ENSEMBL:ENSP00000354762", "ENSEMBL:ENSP00000354762.5", "UMLS:C3660376", "MESH:C578539"], "information_content": 100.0}
{"id": "UniProtKB:Q9H7P6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multivesicular body subunit 12B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H7P6-1", "PR:Q9H7P6-1", "ENSEMBL:ENSP00000354772", "ENSEMBL:ENSP00000354772.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5W111-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SPRY domain-containing protein 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5W111-1", "PR:Q5W111-1", "ENSEMBL:ENSP00000354774", "ENSEMBL:ENSP00000354774.3"], "information_content": 100.0}
{"id": "MONDO:0000967", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conventional lipoma", "equivalent_identifiers": ["MONDO:0000967", "DOID:10193", "UMLS:C1333059", "NCIT:C27530", "medgen:272486"], "information_content": 90.9}
{"id": "MONDO:0000962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spindle cell lipoma", "equivalent_identifiers": ["MONDO:0000962", "DOID:10184", "UMLS:C0334474", "NCIT:C4254", "SNOMEDCT:27313007", "SNOMEDCT:404058008", "medgen:83153"], "information_content": 95.4}
{"id": "UniProtKB:O43164-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase Praja-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43164-1", "PR:O43164-1", "ENSEMBL:ENSP00000354775", "ENSEMBL:ENSP00000354775.2", "ENSEMBL:ENSP00000355284", "ENSEMBL:ENSP00000355284.3"], "information_content": 100.0}
{"id": "UniProtKB:A7MCY6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TANK-binding kinase 1-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A7MCY6-1", "PR:A7MCY6-1", "ENSEMBL:ENSP00000354777", "ENSEMBL:ENSP00000354777.3", "ENSEMBL:ENSP00000462339", "ENSEMBL:ENSP00000462339.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHC6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "contactin-associated protein-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHC6-1", "PR:Q9UHC6-1", "ENSEMBL:ENSP00000354778", "ENSEMBL:ENSP00000354778.3"], "information_content": 100.0}
{"id": "UniProtKB:P20963-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell surface glycoprotein CD3 zeta chain (human)", "equivalent_identifiers": ["UniProtKB:P20963-1", "PR:P20963-1", "ENSEMBL:ENSP00000354782", "ENSEMBL:ENSP00000354782.5"], "information_content": 90.9}
{"id": "UniProtKB:A0A804CDA6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A804CDA6_HUMAN Dynactin subunit 1 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A804CDA6", "ENSEMBL:ENSP00000354791", "ENSEMBL:ENSP00000354791.4"]}
{"id": "NCBIGene:25925", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF521", "equivalent_identifiers": ["NCBIGene:25925", "ENSEMBL:ENSG00000198795", "HGNC:24605", "OMIM:610974", "UMLS:C1428393", "UniProtKB:J3KTI4", "ENSEMBL:ENSP00000463000", "ENSEMBL:ENSP00000463000.1", "UMLS:C2354525", "MESH:C529598", "UniProtKB:Q8IYZ2", "UniProtKB:Q96K83", "PR:Q96K83", "ENSEMBL:ENSP00000354794", "ENSEMBL:ENSP00000354794.3", "ENSEMBL:ENSP00000440768", "ENSEMBL:ENSP00000440768.2", "UMLS:C3275259"], "information_content": 95.4}
{"id": "NCBIGene:51490", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPOUT1", "equivalent_identifiers": ["NCBIGene:51490", "ENSEMBL:ENSG00000198917", "HGNC:26933", "OMIM:617614", "UMLS:C1428634", "UniProtKB:Q5T280", "PR:Q5T280", "ENSEMBL:ENSP00000354812", "ENSEMBL:ENSP00000354812.5", "UMLS:C4277238", "MESH:C000606699"], "information_content": 95.4}
{"id": "MONDO:0013722", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism", "equivalent_identifiers": ["MONDO:0013722", "DOID:0060797", "OMIM:614381", "orphanet:85186", "UMLS:C3280644", "MESH:C535353", "NCIT:C180850", "medgen:482274"], "information_content": 100.0}
{"id": "NCBIGene:4540", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT-ND5", "equivalent_identifiers": ["NCBIGene:4540", "ENSEMBL:ENSG00000198786", "HGNC:7461", "OMIM:516005", "UMLS:C1537994", "UniProtKB:P03915", "PR:P03915", "ENSEMBL:ENSP00000354813", "ENSEMBL:ENSP00000354813.2", "UMLS:C1435034", "MESH:C481838", "UniProtKB:U5ZC31"], "information_content": 100.0}
{"id": "UniProtKB:Q6GPH4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "XIAP-associated factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6GPH4-1", "PR:Q6GPH4-1", "ENSEMBL:ENSP00000354822", "ENSEMBL:ENSP00000354822.3"], "information_content": 100.0}
{"id": "UniProtKB:Q05682-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caldesmon isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q05682-1", "PR:Q05682-1", "ENSEMBL:ENSP00000354826", "ENSEMBL:ENSP00000354826.2"], "information_content": 100.0}
{"id": "MONDO:0003903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign vaginal mixed tumor", "equivalent_identifiers": ["MONDO:0003903", "DOID:6505", "UMLS:C1511107", "NCIT:C40280", "medgen:267350"], "information_content": 100.0}
{"id": "UniProtKB:Q86VZ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VZ5-1", "PR:Q86VZ5-1", "ENSEMBL:ENSP00000354829", "ENSEMBL:ENSP00000354829.2"], "information_content": 100.0}
{"id": "UniProtKB:Q92974-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92974-1", "PR:Q92974-1", "ENSEMBL:ENSP00000354837", "ENSEMBL:ENSP00000354837.4"], "information_content": 100.0}
{"id": "NCBIGene:9760", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOX", "equivalent_identifiers": ["NCBIGene:9760", "ENSEMBL:ENSG00000198846", "HGNC:18988", "OMIM:606863", "UMLS:C1847320", "UniProtKB:O94900", "PR:O94900", "ENSEMBL:ENSP00000354842", "ENSEMBL:ENSP00000354842.1", "UMLS:C3177193", "MESH:C558851"], "information_content": 95.4}
{"id": "NCBIGene:26128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIFBP", "equivalent_identifiers": ["NCBIGene:26128", "ENSEMBL:ENSG00000198954", "HGNC:23419", "OMIM:609367", "UMLS:C1428077", "UniProtKB:Q96EK5", "PR:Q96EK5", "ENSEMBL:ENSP00000354848", "ENSEMBL:ENSP00000354848.4", "UMLS:C1609742", "MESH:C503132"], "information_content": 84.8}
{"id": "UniProtKB:O60502-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein O-GlcNAcase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60502-1", "PR:O60502-1", "ENSEMBL:ENSP00000354850", "ENSEMBL:ENSP00000354850.3"], "information_content": 100.0}
{"id": "UniProtKB:Q14494-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endoplasmic reticulum membrane sensor NFE2L1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14494-1", "PR:Q14494-1", "ENSEMBL:ENSP00000354855", "ENSEMBL:ENSP00000354855.3"], "information_content": 100.0}
{"id": "UniProtKB:P14416-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D(2) dopamine receptor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P14416-1", "PR:P14416-1", "ENSEMBL:ENSP00000354859", "ENSEMBL:ENSP00000354859.3", "ENSEMBL:ENSP00000442172", "ENSEMBL:ENSP00000442172.1"], "information_content": 100.0}
{"id": "MONDO:0044311", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachycephaly, trichomegaly, and developmental delay", "equivalent_identifiers": ["MONDO:0044311", "DOID:0070415", "OMIM:617412", "UMLS:C4479431", "medgen:1374289"], "information_content": 100.0}
{"id": "UniProtKB:O14829-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase with EF-hands 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14829-1", "PR:O14829-1", "ENSEMBL:ENSP00000354871", "ENSEMBL:ENSP00000354871.3", "ENSEMBL:ENSP00000419273", "ENSEMBL:ENSP00000419273.2", "ENSEMBL:ENSP00000509616", "ENSEMBL:ENSP00000509616.1", "ENSEMBL:ENSP00000509623", "ENSEMBL:ENSP00000509623.1", "ENSEMBL:ENSP00000510505", "ENSEMBL:ENSP00000510505.1"], "information_content": 100.0}
{"id": "UniProtKB:O43236-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "septin-4 isoform h8 (human)", "equivalent_identifiers": ["UniProtKB:O43236-8", "PR:O43236-8", "ENSEMBL:ENSP00000354874", "ENSEMBL:ENSP00000354874.2"], "information_content": 100.0}
{"id": "NCBIGene:4513", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT-CO2", "equivalent_identifiers": ["NCBIGene:4513", "ENSEMBL:ENSG00000198712", "HGNC:7421", "OMIM:516040", "UMLS:C1537986", "UniProtKB:P00403", "PR:P00403", "ENSEMBL:ENSP00000354876", "ENSEMBL:ENSP00000354876.1", "UniProtKB:U5Z487"], "information_content": 88.2}
{"id": "UniProtKB:Q7Z4S6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF21A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4S6-1", "PR:Q7Z4S6-1", "ENSEMBL:ENSP00000354878", "ENSEMBL:ENSP00000354878.5"], "information_content": 100.0}
{"id": "MONDO:0004794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "exposure keratitis", "equivalent_identifiers": ["MONDO:0004794", "DOID:9461", "UMLS:C0339295", "MEDDRA:10015706", "MEDDRA:10078951", "MEDDRA:10081254", "SNOMEDCT:14366000", "medgen:87383", "icd11.foundation:1261495652", "ICD10:H16.21", "ICD9:370.34"], "information_content": 100.0}
{"id": "UniProtKB:Q6Q0C1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 25 member 47 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6Q0C1-1", "PR:Q6Q0C1-1", "ENSEMBL:ENSP00000354886", "ENSEMBL:ENSP00000354886.3"], "information_content": 100.0}
{"id": "UniProtKB:Q4G0S7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 152 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4G0S7-1", "PR:Q4G0S7-1", "ENSEMBL:ENSP00000354888", "ENSEMBL:ENSP00000354888.5"], "information_content": 100.0}
{"id": "NCBIGene:148753", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM163A", "equivalent_identifiers": ["NCBIGene:148753", "ENSEMBL:ENSG00000143340", "HGNC:28274", "OMIM:611727", "UMLS:C1823220", "UniProtKB:Q96GL9", "PR:Q96GL9", "ENSEMBL:ENSP00000354891", "ENSEMBL:ENSP00000354891.4", "UMLS:C1872102", "MESH:C516780"], "information_content": 100.0}
{"id": "MONDO:0001226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute contagious conjunctivitis", "equivalent_identifiers": ["MONDO:0001226", "DOID:11213", "UMLS:C0275586", "UMLS:C1313983", "MEDDRA:10059861", "NCIT:C35704", "SNOMEDCT:399219006", "medgen:272038"], "information_content": 100.0}
{"id": "NCBIGene:2705", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJB1", "equivalent_identifiers": ["NCBIGene:2705", "ENSEMBL:ENSG00000169562", "HGNC:4283", "OMIM:304040", "UMLS:C1415076", "UniProtKB:P08034", "PR:P08034", "ENSEMBL:ENSP00000354900", "ENSEMBL:ENSP00000354900.6", "ENSEMBL:ENSP00000363141", "ENSEMBL:ENSP00000363141.1", "ENSEMBL:ENSP00000407223", "ENSEMBL:ENSP00000407223.2", "ENSEMBL:ENSP00000494142", "ENSEMBL:ENSP00000494142.2", "ENSEMBL:ENSP00000494596", "ENSEMBL:ENSP00000494596.1", "ENSEMBL:ENSP00000495960", "ENSEMBL:ENSP00000495960.1", "ENSEMBL:ENSP00000501571", "ENSEMBL:ENSP00000501571.1", "ENSEMBL:ENSP00000501757", "ENSEMBL:ENSP00000501757.1", "ENSEMBL:ENSP00000501813", "ENSEMBL:ENSP00000501813.1", "ENSEMBL:ENSP00000502556", "ENSEMBL:ENSP00000502556.1", "ENSEMBL:ENSP00000502766", "ENSEMBL:ENSP00000502766.1", "UMLS:C1412019", "MESH:C000727610"], "information_content": 95.4}
{"id": "MONDO:0006702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic inflammatory demyelinating polyradiculoneuropathy", "equivalent_identifiers": ["MONDO:0006702", "DOID:2536", "DOID:5213", "orphanet:2932", "EFO:1000868", "UMLS:C0393819", "MESH:D020277", "MEDDRA:10057645", "MEDDRA:10072650", "MEDDRA:10077384", "NCIT:C84636", "SNOMEDCT:128209004", "medgen:98292", "icd11.foundation:224318510", "ICD10:G61.81", "ICD9:357.81"], "information_content": 95.4}
{"id": "NCBIGene:4283", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCL9", "equivalent_identifiers": ["NCBIGene:4283", "ENSEMBL:ENSG00000138755", "HGNC:7098", "OMIM:601704", "UMLS:C1332821", "UniProtKB:Q07325", "PR:Q07325", "ENSEMBL:ENSP00000354901", "ENSEMBL:ENSP00000354901.4", "UMLS:C0215469", "MESH:C080810"], "information_content": 89.4}
{"id": "UniProtKB:O14511-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pro-neuregulin-2, membrane-bound isoform isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14511-1", "PR:O14511-1", "ENSEMBL:ENSP00000354910", "ENSEMBL:ENSP00000354910.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNH5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein phosphatase CDC14A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNH5-2", "PR:Q9UNH5-2", "ENSEMBL:ENSP00000354916", "ENSEMBL:ENSP00000354916.6"], "information_content": 100.0}
{"id": "NCBIGene:23116", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOGARAM1", "equivalent_identifiers": ["NCBIGene:23116", "ENSEMBL:ENSG00000198718", "HGNC:19959", "OMIM:617618", "UMLS:C4321218", "UniProtKB:B4DHM7", "UniProtKB:G3XAE9", "ENSEMBL:ENSP00000354917", "ENSEMBL:ENSP00000354917.2", "UniProtKB:Q6P183", "UniProtKB:Q9Y4F4", "PR:Q9Y4F4"]}
{"id": "UniProtKB:Q14D04-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ventricular zone-expressed PH domain-containing protein homolog 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14D04-1", "PR:Q14D04-1", "ENSEMBL:ENSP00000354919", "ENSEMBL:ENSP00000354919.2", "ENSEMBL:ENSP00000376577", "ENSEMBL:ENSP00000376577.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6R0-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eEF1A lysine and N-terminal methyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6R0-5", "PR:Q8N6R0-5", "ENSEMBL:ENSP00000354920", "ENSEMBL:ENSP00000354920.3"], "information_content": 100.0}
{"id": "UniProtKB:P11532-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dystrophin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11532-1", "PR:P11532-1", "ENSEMBL:ENSP00000354923", "ENSEMBL:ENSP00000354923.3"], "information_content": 100.0}
{"id": "UniProtKB:Q99759-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99759-2", "PR:Q99759-2", "ENSEMBL:ENSP00000354927", "ENSEMBL:ENSP00000354927.3", "ENSEMBL:ENSP00000461988", "ENSEMBL:ENSP00000461988.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z3S9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "notch homolog 2 N-terminal-like protein A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3S9-1", "PR:Q7Z3S9-1", "ENSEMBL:ENSP00000354929", "ENSEMBL:ENSP00000354929.6", "ENSEMBL:ENSP00000508809", "ENSEMBL:ENSP00000508809.1", "ENSEMBL:ENSP00000510366", "ENSEMBL:ENSP00000510366.1", "ENSEMBL:ENSP00000510377", "ENSEMBL:ENSP00000510377.1"], "information_content": 100.0}
{"id": "MONDO:0002285", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pupil disorder", "equivalent_identifiers": ["MONDO:0002285", "DOID:238", "UMLS:C0034124", "MESH:D011681", "MEDDRA:10037514", "MEDDRA:10037521", "MEDDRA:10037522", "NCIT:C193440", "SNOMEDCT:68633000", "medgen:11038"], "information_content": 89.4}
{"id": "NCBIGene:7096", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLR1", "equivalent_identifiers": ["NCBIGene:7096", "ENSEMBL:ENSG00000174125", "HGNC:11847", "OMIM:601194", "UMLS:C1366477", "UniProtKB:Q15399", "PR:Q15399", "ENSEMBL:ENSP00000354932", "ENSEMBL:ENSP00000354932.2", "ENSEMBL:ENSP00000421259", "ENSEMBL:ENSP00000421259.1", "UMLS:C4282042", "UMLS:C5196701", "MESH:C000629912"], "information_content": 95.4}
{"id": "UniProtKB:P47755-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-actin-capping protein subunit alpha-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P47755-1", "PR:P47755-1", "ENSEMBL:ENSP00000354947", "ENSEMBL:ENSP00000354947.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQC2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GRB2-associated-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQC2-1", "PR:Q9UQC2-1", "ENSEMBL:ENSP00000354952", "ENSEMBL:ENSP00000354952.4"], "information_content": 100.0}
{"id": "NCBIGene:23137", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMC5", "equivalent_identifiers": ["NCBIGene:23137", "ENSEMBL:ENSG00000198887", "HGNC:20465", "OMIM:609386", "UMLS:C1822781", "UniProtKB:Q8IY18", "PR:Q8IY18", "ENSEMBL:ENSP00000354957", "ENSEMBL:ENSP00000354957.5", "UMLS:C1448078", "MESH:C432931"], "information_content": 89.4}
{"id": "UniProtKB:P81408-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ENTREP3 isoform A (human)", "equivalent_identifiers": ["UniProtKB:P81408-1", "PR:P81408-1", "ENSEMBL:ENSP00000354958", "ENSEMBL:ENSP00000354958.2", "ENSEMBL:ENSP00000461152", "ENSEMBL:ENSP00000461152.1"], "information_content": 100.0}
{"id": "NCBIGene:23127", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COLGALT2", "equivalent_identifiers": ["NCBIGene:23127", "ENSEMBL:ENSG00000198756", "HGNC:16790", "OMIM:617533", "UMLS:C1539579", "UniProtKB:A0A3B3IT37", "ENSEMBL:ENSP00000497601", "ENSEMBL:ENSP00000497601.1", "UMLS:C2713875", "MESH:C535154", "UniProtKB:B3KT92", "UniProtKB:B4DF84", "UniProtKB:Q8IYK4", "PR:Q8IYK4", "ENSEMBL:ENSP00000354960", "ENSEMBL:ENSP00000354960.4"], "information_content": 95.4}
{"id": "NCBIGene:4538", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT-ND4", "equivalent_identifiers": ["NCBIGene:4538", "ENSEMBL:ENSG00000198886", "HGNC:7459", "OMIM:516003", "UMLS:C1537992", "UniProtKB:H9EC08", "UMLS:C1505600", "UniProtKB:P03905", "PR:P03905", "ENSEMBL:ENSP00000354961", "ENSEMBL:ENSP00000354961.2"], "information_content": 100.0}
{"id": "MONDO:0021013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clastothrix", "equivalent_identifiers": ["MONDO:0021013", "DOID:0050528", "OMIM:234050", "UMLS:C0263485", "UMLS:C0702164", "UMLS:C1313961", "UMLS:C3495483", "UMLS:C4083251", "MESH:C536556", "MEDDRA:10044626", "NCIT:C146899", "SNOMEDCT:22486004", "SNOMEDCT:238736006", "SNOMEDCT:403796005", "medgen:272036", "HP:0009886"], "information_content": 100.0}
{"id": "MONDO:0003471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pediculus humanus capitis infestation", "equivalent_identifiers": ["MONDO:0003471", "DOID:5501", "UMLS:C0030757", "MEDDRA:10019197", "MEDDRA:10019199", "MEDDRA:10034210", "MEDDRA:10034214", "SNOMEDCT:81000006", "medgen:508022", "ICD10:B85.0", "ICD9:132.0", "HP:6000743"], "information_content": 100.0}
{"id": "UniProtKB:Q5VUA4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 318 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VUA4-1", "PR:Q5VUA4-1", "ENSEMBL:ENSP00000354964", "ENSEMBL:ENSP00000354964.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5VZE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-alpha-acetyltransferase 35, NatC auxiliary subunit isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VZE5-1", "PR:Q5VZE5-1", "ENSEMBL:ENSP00000354972", "ENSEMBL:ENSP00000354972.5"], "information_content": 100.0}
{"id": "NCBIGene:4514", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT-CO3", "equivalent_identifiers": ["NCBIGene:4514", "ENSEMBL:ENSG00000198938", "HGNC:7422", "OMIM:516050", "UMLS:C1537987", "UniProtKB:P00414", "PR:P00414", "ENSEMBL:ENSP00000354982", "ENSEMBL:ENSP00000354982.2", "UniProtKB:Q7GIM7"], "information_content": 100.0}
{"id": "MONDO:0859139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blepharophimosis-impaired intellectual development syndrome", "equivalent_identifiers": ["MONDO:0859139", "DOID:0081442", "OMIM:619293", "orphanet:637013", "UMLS:C5443984", "medgen:1779966"], "information_content": 100.0}
{"id": "NCBIGene:115701", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALPK2", "equivalent_identifiers": ["NCBIGene:115701", "ENSEMBL:ENSG00000198796", "HGNC:20565", "OMIM:619965", "UMLS:C1538266", "UniProtKB:Q86TB3", "PR:Q86TB3", "ENSEMBL:ENSP00000354991", "ENSEMBL:ENSP00000354991.3", "UMLS:C3493756", "MESH:C574100"], "information_content": 100.0}
{"id": "UniProtKB:P45844-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family G member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P45844-1", "PR:P45844-1", "ENSEMBL:ENSP00000354995", "ENSEMBL:ENSP00000354995.2"], "information_content": 100.0}
{"id": "NCBIGene:5455", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POU3F3", "equivalent_identifiers": ["NCBIGene:5455", "ENSEMBL:ENSG00000198914", "HGNC:9216", "OMIM:602480", "UMLS:C1418763", "UniProtKB:P20264", "PR:P20264", "ENSEMBL:ENSP00000355001", "ENSEMBL:ENSP00000355001.2", "ENSEMBL:ENSP00000501036", "ENSEMBL:ENSP00000501036.1", "UMLS:C3851817", "MESH:C000589675"], "information_content": 100.0}
{"id": "NCBIGene:3608", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ILF2", "equivalent_identifiers": ["NCBIGene:3608", "ENSEMBL:ENSG00000143621", "HGNC:6037", "OMIM:603181", "UMLS:C1416419", "UniProtKB:B4DY09", "ENSEMBL:ENSP00000482909", "ENSEMBL:ENSP00000482909.1", "UniProtKB:F4ZW62", "UniProtKB:Q12905", "PR:Q12905", "ENSEMBL:ENSP00000355011", "ENSEMBL:ENSP00000355011.4", "UMLS:C1527442", "MESH:C494013", "UniProtKB:Q53FG3"], "information_content": 89.4}
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{"id": "UniProtKB:Q8NG27-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase Praja-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NG27-1", "PR:Q8NG27-1", "ENSEMBL:ENSP00000355014", "ENSEMBL:ENSP00000355014.1", "ENSEMBL:ENSP00000363711", "ENSEMBL:ENSP00000363711.1"], "information_content": 100.0}
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{"id": "NCBIGene:4536", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT-ND2", "equivalent_identifiers": ["NCBIGene:4536", "ENSEMBL:ENSG00000198763", "HGNC:7456", "OMIM:516001", "UMLS:C1537990", "UniProtKB:P03891", "PR:P03891", "ENSEMBL:ENSP00000355046", "ENSEMBL:ENSP00000355046.4", "UMLS:C4743048", "MESH:C000628951", "UniProtKB:Q7GXY9"], "information_content": 100.0}
{"id": "UniProtKB:Q8WYA6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-catenin-like protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYA6-1", "PR:Q8WYA6-1", "ENSEMBL:ENSP00000355050", "ENSEMBL:ENSP00000355050.6"], "information_content": 100.0}
{"id": "NCBIGene:6884", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAF13", "equivalent_identifiers": ["NCBIGene:6884", "ENSEMBL:ENSG00000197780", "HGNC:11546", "OMIM:600774", "UMLS:C1336563", "UniProtKB:Q15543", "PR:Q15543", "ENSEMBL:ENSP00000355051", "ENSEMBL:ENSP00000355051.4", "UMLS:C0756346", "MESH:C113945"], "information_content": 92.8}
{"id": "UniProtKB:P17040-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and SCAN domain-containing protein 20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P17040-1", "PR:P17040-1", "ENSEMBL:ENSP00000355053", "ENSEMBL:ENSP00000355053.3", "ENSEMBL:ENSP00000507139", "ENSEMBL:ENSP00000507139.1"], "information_content": 100.0}
{"id": "MONDO:0006626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetic neuropathy", "equivalent_identifiers": ["MONDO:0006626", "DOID:9743", "EFO:1000783", "UMLS:C0011882", "MESH:D003929", "MEDDRA:10012680", "NCIT:C26748", "SNOMEDCT:230572002", "medgen:8353", "ICD9:250.6"], "information_content": 92.8}
{"id": "MONDO:0013468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 59", "equivalent_identifiers": ["MONDO:0013468", "DOID:0110352", "OMIM:613861", "UMLS:C3151227", "medgen:462577"], "information_content": 100.0}
{"id": "MONDO:0002321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sensory peripheral neuropathy", "equivalent_identifiers": ["MONDO:0002321", "DOID:2491", "UMLS:C0151313", "MEDDRA:10034620", "MEDDRA:10040038", "MEDDRA:10040039", "MEDDRA:10062975", "NCIT:C3501", "SNOMEDCT:789588003", "SNOMEDCT:95662005", "medgen:101791", "ICD9:356.2", "HP:0000763"], "information_content": 78.0}
{"id": "UniProtKB:Q9HCL0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin-18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCL0-1", "PR:Q9HCL0-1", "ENSEMBL:ENSP00000355082", "ENSEMBL:ENSP00000355082.4"], "information_content": 100.0}
{"id": "NCBIGene:51734", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MSRB1", "equivalent_identifiers": ["NCBIGene:51734", "ENSEMBL:ENSG00000198736", "HGNC:14133", "OMIM:606216", "UMLS:C1422427", "UniProtKB:Q9NZV6", "PR:Q9NZV6", "ENSEMBL:ENSP00000355084", "ENSEMBL:ENSP00000355084.3", "ENSEMBL:ENSP00000517565", "ENSEMBL:ENSP00000517565.1"], "information_content": 95.4}
{"id": "UniProtKB:Q6P4F7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 11A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P4F7-1", "PR:Q6P4F7-1", "ENSEMBL:ENSP00000355090", "ENSEMBL:ENSP00000355090.3", "ENSEMBL:ENSP00000479117", "ENSEMBL:ENSP00000479117.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96PU8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KH domain-containing RNA-binding protein QKI isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PU8-1", "PR:Q96PU8-1", "ENSEMBL:ENSP00000355094", "ENSEMBL:ENSP00000355094.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H4F8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SPARC-related modular calcium-binding protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4F8-2", "PR:Q9H4F8-2", "ENSEMBL:ENSP00000355110", "ENSEMBL:ENSP00000355110.4"], "information_content": 100.0}
{"id": "NCBIGene:3880", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT19", "equivalent_identifiers": ["NCBIGene:3880", "ENSEMBL:ENSG00000171345", "HGNC:6436", "OMIM:148020", "UMLS:C1334314", "UniProtKB:P08727", "PR:P08727", "ENSEMBL:ENSP00000355124", "ENSEMBL:ENSP00000355124.3", "UMLS:C4082253", "MESH:C000628304"], "information_content": 89.4}
{"id": "UniProtKB:O75052-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75052-1", "PR:O75052-1", "ENSEMBL:ENSP00000355133", "ENSEMBL:ENSP00000355133.5"], "information_content": 100.0}
{"id": "UniProtKB:P14653-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Hox-B1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P14653-1", "PR:P14653-1", "ENSEMBL:ENSP00000355140", "ENSEMBL:ENSP00000355140.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZV5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "selenoprotein N isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZV5-1", "PR:Q9NZV5-1", "ENSEMBL:ENSP00000355141", "ENSEMBL:ENSP00000355141.2"], "information_content": 100.0}
{"id": "NCBIGene:116443", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRIN3A", "equivalent_identifiers": ["NCBIGene:116443", "ENSEMBL:ENSG00000198785", "HGNC:16767", "OMIM:606650", "UMLS:C1424528", "UniProtKB:Q8TCU5", "PR:Q8TCU5", "ENSEMBL:ENSP00000355155", "ENSEMBL:ENSP00000355155.3", "UMLS:C2933471", "MESH:C548929"], "information_content": 92.8}
{"id": "NCBIGene:56670", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUCNR1", "equivalent_identifiers": ["NCBIGene:56670", "ENSEMBL:ENSG00000198829", "HGNC:4542", "OMIM:606381", "UMLS:C1539890", "UniProtKB:Q9BXA5", "PR:Q9BXA5", "ENSEMBL:ENSP00000355156", "ENSEMBL:ENSP00000355156.4", "UMLS:C3180421", "MESH:C557078"], "information_content": 95.4}
{"id": "NCBIGene:201798", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIGD4", "equivalent_identifiers": ["NCBIGene:201798", "ENSEMBL:ENSG00000169989", "HGNC:18335", "UMLS:C1425455", "UniProtKB:Q8IY51", "PR:Q8IY51", "ENSEMBL:ENSP00000355162", "ENSEMBL:ENSP00000355162.2"], "information_content": 100.0}
{"id": "MONDO:0008748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 1", "equivalent_identifiers": ["MONDO:0008748", "DOID:0060539", "OMIM:203300", "UMLS:C2931875", "MESH:C538539", "MEDDRA:10084191", "NCIT:C150367", "medgen:419514"], "information_content": 100.0}
{"id": "NCBIGene:376132", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC10", "equivalent_identifiers": ["NCBIGene:376132", "ENSEMBL:ENSG00000198812", "HGNC:20264", "OMIM:610846", "UMLS:C1537597", "UniProtKB:Q5BKY1", "PR:Q5BKY1", "ENSEMBL:ENSP00000355166", "ENSEMBL:ENSP00000355166.3", "UMLS:C4277022", "MESH:C000607442"], "information_content": 100.0}
{"id": "UniProtKB:Q86X24-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HORMA domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86X24-1", "PR:Q86X24-1", "ENSEMBL:ENSP00000355167", "ENSEMBL:ENSP00000355167.2"], "information_content": 100.0}
{"id": "NCBIGene:1291", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL6A1", "equivalent_identifiers": ["NCBIGene:1291", "ENSEMBL:ENSG00000142156", "HGNC:2211", "OMIM:120220", "UMLS:C1413589", "UniProtKB:A0A384P5H7", "UniProtKB:P12109", "PR:P12109", "ENSEMBL:ENSP00000355180", "ENSEMBL:ENSP00000355180.3"], "information_content": 83.1}
{"id": "NCBIGene:9937", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCLRE1A", "equivalent_identifiers": ["NCBIGene:9937", "ENSEMBL:ENSG00000198924", "HGNC:17660", "OMIM:609682", "UMLS:C1425027", "UniProtKB:Q6PJP8", "PR:Q6PJP8", "ENSEMBL:ENSP00000355185", "ENSEMBL:ENSP00000355185.2", "ENSEMBL:ENSP00000358311", "ENSEMBL:ENSP00000358311.1", "UMLS:C0759317", "MESH:C115339"], "information_content": 92.8}
{"id": "UniProtKB:Q86VH5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat transmembrane neuronal protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VH5-1", "PR:Q86VH5-1", "ENSEMBL:ENSP00000355187", "ENSEMBL:ENSP00000355187.3"], "information_content": 100.0}
{"id": "NCBIGene:779", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CACNA1S", "equivalent_identifiers": ["NCBIGene:779", "ENSEMBL:ENSG00000081248", "HGNC:1397", "OMIM:114208", "UMLS:C1413064", "UniProtKB:B1ALM3", "ENSEMBL:ENSP00000356307", "ENSEMBL:ENSP00000356307.3", "UniProtKB:Q13698", "PR:Q13698", "ENSEMBL:ENSP00000355192", "ENSEMBL:ENSP00000355192.3", "UMLS:C1439118", "MESH:C412223"], "information_content": 95.4}
{"id": "UniProtKB:Q8WXK4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and SOCS box protein 12 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXK4-2", "PR:Q8WXK4-2", "ENSEMBL:ENSP00000355195", "ENSEMBL:ENSP00000355195.2"], "information_content": 100.0}
{"id": "NCBIGene:90362", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM110B", "equivalent_identifiers": ["NCBIGene:90362", "ENSEMBL:ENSG00000169122", "HGNC:28587", "OMIM:611394", "UMLS:C1824280", "UniProtKB:B3KRT5", "UMLS:C2002399", "MESH:C523018", "UniProtKB:Q8TC76", "PR:Q8TC76", "ENSEMBL:ENSP00000355204", "ENSEMBL:ENSP00000355204.3", "ENSEMBL:ENSP00000509301", "ENSEMBL:ENSP00000509301.1"], "information_content": 100.0}
{"id": "MONDO:0008377", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 1", "equivalent_identifiers": ["MONDO:0008377", "DOID:0110390", "OMIM:180100", "UMLS:C0220701", "MESH:C538365", "medgen:67395"], "information_content": 100.0}
{"id": "NCBIGene:4537", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT-ND3", "equivalent_identifiers": ["NCBIGene:4537", "ENSEMBL:ENSG00000198840", "HGNC:7458", "OMIM:516002", "UMLS:C1537991", "UniProtKB:P03897", "PR:P03897", "ENSEMBL:ENSP00000355206", "ENSEMBL:ENSP00000355206.2", "UMLS:C1435213", "MESH:C114961", "UniProtKB:Q7GXZ5"], "information_content": 100.0}
{"id": "MONDO:0000670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cortical deafness", "equivalent_identifiers": ["MONDO:0000670", "DOID:0060140", "UMLS:C0392704", "medgen:98233"], "information_content": 100.0}
{"id": "NCBIGene:8678", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BECN1", "equivalent_identifiers": ["NCBIGene:8678", "ENSEMBL:ENSG00000126581", "HGNC:1034", "OMIM:604378", "UMLS:C1412785", "UniProtKB:A0A024R1X5", "UniProtKB:B4DQ36", "UniProtKB:E7EV84", "ENSEMBL:ENSP00000416173", "ENSEMBL:ENSP00000416173.2", "UniProtKB:Q14457", "PR:Q14457", "ENSEMBL:ENSP00000355231", "ENSEMBL:ENSP00000355231.3", "ENSEMBL:ENSP00000465364", "ENSEMBL:ENSP00000465364.1", "UMLS:C1453431", "MESH:C491997", "UniProtKB:W0FFG4"], "information_content": 84.8}
{"id": "NCBIGene:9578", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC42BPB", "equivalent_identifiers": ["NCBIGene:9578", "ENSEMBL:ENSG00000198752", "HGNC:1738", "OMIM:614062", "UMLS:C1413265", "UniProtKB:H0YLY0", "ENSEMBL:ENSP00000453384", "ENSEMBL:ENSP00000453384.2", "UniProtKB:Q86XZ8", "UMLS:C1431810", "MESH:C118666", "UniProtKB:Q9Y5S2", "PR:Q9Y5S2", "ENSEMBL:ENSP00000355237", "ENSEMBL:ENSP00000355237.2"], "information_content": 92.8}
{"id": "NCBIGene:5083", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAX9", "equivalent_identifiers": ["NCBIGene:5083", "ENSEMBL:ENSG00000198807", "HGNC:8623", "OMIM:167416", "UMLS:C1418278", "UniProtKB:P55771", "PR:P55771", "ENSEMBL:ENSP00000355245", "ENSEMBL:ENSP00000355245.6", "ENSEMBL:ENSP00000384817", "ENSEMBL:ENSP00000384817.2", "UMLS:C1566490", "UMLS:C1571217", "MESH:C497323", "UniProtKB:Q2L4T1"], "information_content": 100.0}
{"id": "NCBIGene:1870", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "E2F2", "equivalent_identifiers": ["NCBIGene:1870", "ENSEMBL:ENSG00000007968", "HGNC:3114", "OMIM:600426", "UMLS:C1414223", "UniProtKB:Q14209", "PR:Q14209", "ENSEMBL:ENSP00000355249", "ENSEMBL:ENSP00000355249.2", "ENSEMBL:ENSP00000489612", "ENSEMBL:ENSP00000489612.1", "UMLS:C1529669", "MESH:C493761"], "information_content": 90.9}
{"id": "UniProtKB:Q2KHM9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein moonraker isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2KHM9-1", "PR:Q2KHM9-1", "ENSEMBL:ENSP00000355250", "ENSEMBL:ENSP00000355250.3"], "information_content": 100.0}
{"id": "NCBIGene:23381", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMG5", "equivalent_identifiers": ["NCBIGene:23381", "ENSEMBL:ENSG00000198952", "HGNC:24644", "OMIM:610962", "UMLS:C1822788", "UniProtKB:Q9UPR3", "PR:Q9UPR3", "ENSEMBL:ENSP00000355261", "ENSEMBL:ENSP00000355261.5", "UMLS:C1869565", "MESH:C515801"], "information_content": 100.0}
{"id": "NCBIGene:4509", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT-ATP8", "equivalent_identifiers": ["NCBIGene:4509", "ENSEMBL:ENSG00000228253", "HGNC:7415", "OMIM:516070", "UMLS:C1537984", "UniProtKB:P03928", "PR:P03928", "ENSEMBL:ENSP00000355265", "ENSEMBL:ENSP00000355265.1", "UMLS:C1743092", "MESH:C513300", "UniProtKB:U5YV54"], "information_content": 100.0}
{"id": "UniProtKB:Q9UIV1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCR4-NOT transcription complex subunit 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIV1-1", "PR:Q9UIV1-1", "ENSEMBL:ENSP00000355279", "ENSEMBL:ENSP00000355279.4"], "information_content": 100.0}
{"id": "NCBIGene:116461", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSEN15", "equivalent_identifiers": ["NCBIGene:116461", "ENSEMBL:ENSG00000198860", "HGNC:16791", "OMIM:608756", "UMLS:C1424550", "UniProtKB:A0A2R8YDU8", "ENSEMBL:ENSP00000494932", "ENSEMBL:ENSP00000494932.1", "UniProtKB:A0A2U3TZM3", "ENSEMBL:ENSP00000355299", "ENSEMBL:ENSP00000355299.2", "UMLS:C3884273", "MESH:C000590976", "UniProtKB:B1ALV0", "UniProtKB:E9PPN1", "ENSEMBL:ENSP00000436996", "ENSEMBL:ENSP00000436996.1", "UniProtKB:Q8WW01", "PR:Q8WW01"]}
{"id": "MONDO:0014083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agammaglobulinemia 7, autosomal recessive", "equivalent_identifiers": ["MONDO:0014083", "DOID:0081139", "OMIM:615214", "UMLS:C3554689", "medgen:767603"], "information_content": 100.0}
{"id": "NCBIGene:83895", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP1-5", "equivalent_identifiers": ["NCBIGene:83895", "ENSEMBL:ENSG00000221852", "HGNC:16777", "OMIM:608822", "UMLS:C1424537", "UniProtKB:Q9BYS1", "PR:Q9BYS1", "ENSEMBL:ENSP00000355302", "ENSEMBL:ENSP00000355302.5", "ENSEMBL:ENSP00000461651", "ENSEMBL:ENSP00000461651.1", "UMLS:C1453259", "MESH:C489806"], "information_content": 100.0}
{"id": "MONDO:0001391", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "indeterminate leprosy", "equivalent_identifiers": ["MONDO:0001391", "DOID:11851", "UMLS:C0021192", "MEDDRA:10021700", "MEDDRA:10021701", "SNOMEDCT:14386001", "medgen:507841", "icd11.foundation:2010059430", "ICD10:A30.0", "ICD9:030.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQ07-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAPK/MAK/MRK overlapping kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ07-1", "PR:Q9UQ07-1", "ENSEMBL:ENSP00000355304", "ENSEMBL:ENSP00000355304.2"], "information_content": 100.0}
{"id": "UniProtKB:B0YJ81-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:B0YJ81-1", "PR:B0YJ81-1", "ENSEMBL:ENSP00000355308", "ENSEMBL:ENSP00000355308.3"], "information_content": 100.0}
{"id": "NCBIGene:6170", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL39", "equivalent_identifiers": ["NCBIGene:6170", "ENSEMBL:ENSG00000198918", "HGNC:10350", "OMIM:300899", "UMLS:C1419673", "UniProtKB:P62891", "PR:P62891", "ENSEMBL:ENSP00000355315", "ENSEMBL:ENSP00000355315.3"], "information_content": 92.8}
{"id": "UniProtKB:Q14832-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metabotropic glutamate receptor 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14832-1", "PR:Q14832-1", "ENSEMBL:ENSP00000355316", "ENSEMBL:ENSP00000355316.2"], "information_content": 100.0}
{"id": "NCBIGene:85457", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIPC", "equivalent_identifiers": ["NCBIGene:85457", "ENSEMBL:ENSG00000198894", "HGNC:20365", "OMIM:616995", "UMLS:C0008288", "UniProtKB:Q9C0C6", "PR:Q9C0C6", "ENSEMBL:ENSP00000355319", "ENSEMBL:ENSP00000355319.2"], "information_content": 100.0}
{"id": "MONDO:0000240", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "invasive aspergillosis", "equivalent_identifiers": ["MONDO:0000240", "DOID:0050073", "UMLS:C0238013", "SNOMEDCT:721798004", "medgen:922866", "icd11.foundation:1314810340"], "information_content": 100.0}
{"id": "UniProtKB:P28074-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome subunit beta type-5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P28074-1", "PR:P28074-1", "ENSEMBL:ENSP00000355325", "ENSEMBL:ENSP00000355325.6"], "information_content": 100.0}
{"id": "UniProtKB:P21980-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-glutamine gamma-glutamyltransferase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P21980-1", "PR:P21980-1", "ENSEMBL:ENSP00000355330", "ENSEMBL:ENSP00000355330.2"], "information_content": 100.0}
{"id": "NCBIGene:27350", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOBEC3C", "equivalent_identifiers": ["NCBIGene:27350", "ENSEMBL:ENSG00000244509", "HGNC:17353", "OMIM:607750", "UMLS:C1424926", "UniProtKB:Q9NRW3", "PR:Q9NRW3", "ENSEMBL:ENSP00000355340", "ENSEMBL:ENSP00000355340.3", "UMLS:C1565216", "MESH:C495795"], "information_content": 90.9}
{"id": "UniProtKB:O60248-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor SOX-15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60248-1", "PR:O60248-1", "ENSEMBL:ENSP00000355354", "ENSEMBL:ENSP00000355354.2", "ENSEMBL:ENSP00000439311", "ENSEMBL:ENSP00000439311.2"], "information_content": 100.0}
{"id": "UniProtKB:Q08722-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukocyte surface antigen CD47 isoform hOA3-323 (human)", "equivalent_identifiers": ["UniProtKB:Q08722-1", "PR:Q08722-1", "ENSEMBL:ENSP00000355361", "ENSEMBL:ENSP00000355361.5"], "information_content": 100.0}
{"id": "NCBIGene:1270", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNTF", "equivalent_identifiers": ["NCBIGene:1270", "ENSEMBL:ENSG00000242689", "HGNC:2169", "OMIM:118945", "UMLS:C1413557", "UniProtKB:P26441", "PR:P26441", "ENSEMBL:ENSP00000355370", "ENSEMBL:ENSP00000355370.4"], "information_content": 100.0}
{"id": "MONDO:0031013", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune optic neuritis", "equivalent_identifiers": ["MONDO:0031013", "DOID:0040089"], "information_content": 100.0}
{"id": "NCBIGene:29948", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OSGIN1", "equivalent_identifiers": ["NCBIGene:29948", "ENSEMBL:ENSG00000140961", "HGNC:30093", "OMIM:607975", "UMLS:C1826517", "UniProtKB:Q9UJX0", "PR:Q9UJX0", "ENSEMBL:ENSP00000355374", "ENSEMBL:ENSP00000355374.3", "ENSEMBL:ENSP00000376983", "ENSEMBL:ENSP00000376983.1", "UMLS:C0968436", "MESH:C432368"], "information_content": 95.4}
{"id": "NCBIGene:22977", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AKR7A3", "equivalent_identifiers": ["NCBIGene:22977", "ENSEMBL:ENSG00000162482", "HGNC:390", "OMIM:608477", "UMLS:C1412329", "UniProtKB:A0A384MDN8", "UMLS:C4077586", "MESH:C000603089", "UniProtKB:O95154", "PR:O95154", "ENSEMBL:ENSP00000355377", "ENSEMBL:ENSP00000355377.4"], "information_content": 100.0}
{"id": "NCBIGene:284129", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC26A11", "equivalent_identifiers": ["NCBIGene:284129", "ENSEMBL:ENSG00000181045", "HGNC:14471", "OMIM:610117", "UMLS:C1422677", "UniProtKB:Q86WA9", "PR:Q86WA9", "ENSEMBL:ENSP00000355384", "ENSEMBL:ENSP00000355384.3", "ENSEMBL:ENSP00000403998", "ENSEMBL:ENSP00000403998.3", "ENSEMBL:ENSP00000440724", "ENSEMBL:ENSP00000440724.2", "ENSEMBL:ENSP00000459470", "ENSEMBL:ENSP00000459470.1", "UMLS:C1258615", "MESH:C000624596"], "information_content": 95.4}
{"id": "UniProtKB:Q8TAC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "secretory carrier-associated membrane protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAC9-1", "PR:Q8TAC9-1", "ENSEMBL:ENSP00000355387", "ENSEMBL:ENSP00000355387.6", "ENSEMBL:ENSP00000406547", "ENSEMBL:ENSP00000406547.3"], "information_content": 100.0}
{"id": "UniProtKB:Q99549-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M-phase phosphoprotein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99549-1", "PR:Q99549-1", "ENSEMBL:ENSP00000355388", "ENSEMBL:ENSP00000355388.4"], "information_content": 100.0}
{"id": "NCBIGene:9860", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRIG2", "equivalent_identifiers": ["NCBIGene:9860", "ENSEMBL:ENSG00000198799", "HGNC:20889", "OMIM:608869", "UMLS:C1427192", "UniProtKB:O94898", "PR:O94898", "ENSEMBL:ENSP00000355396", "ENSEMBL:ENSP00000355396.4", "UMLS:C1505286", "MESH:C488673"], "information_content": 90.9}
{"id": "NCBIGene:57611", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ISLR2", "equivalent_identifiers": ["NCBIGene:57611", "ENSEMBL:ENSG00000167178", "HGNC:29286", "OMIM:614179", "UMLS:C1825624", "UniProtKB:Q6UXK2", "PR:Q6UXK2", "ENSEMBL:ENSP00000355402", "ENSEMBL:ENSP00000355402.3", "ENSEMBL:ENSP00000411443", "ENSEMBL:ENSP00000411443.1", "ENSEMBL:ENSP00000411834", "ENSEMBL:ENSP00000411834.2", "ENSEMBL:ENSP00000455531", "ENSEMBL:ENSP00000455531.1", "ENSEMBL:ENSP00000458080", "ENSEMBL:ENSP00000458080.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZA8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin-11 Y-linked isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZA8-2", "PR:Q9BZA8-2", "ENSEMBL:ENSP00000355419", "ENSEMBL:ENSP00000355419.5"], "information_content": 100.0}
{"id": "NCBIGene:127059", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2M5", "equivalent_identifiers": ["NCBIGene:127059", "ENSEMBL:ENSG00000162727", "HGNC:19576", "UMLS:C1426258", "UniProtKB:A3KFT3", "PR:A3KFT3", "ENSEMBL:ENSP00000355432", "ENSEMBL:ENSP00000355432.1"], "information_content": 100.0}
{"id": "NCBIGene:25893", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM58", "equivalent_identifiers": ["NCBIGene:25893", "ENSEMBL:ENSG00000162722", "HGNC:24150", "OMIM:620527", "UMLS:C1540062", "UniProtKB:Q8NG06", "PR:Q8NG06", "ENSEMBL:ENSP00000355437", "ENSEMBL:ENSP00000355437.3", "UMLS:C4742758", "MESH:C000628570"], "information_content": 100.0}
{"id": "NCBIGene:388761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR14A2", "equivalent_identifiers": ["NCBIGene:388761", "ENSEMBL:ENSG00000241128", "HGNC:15024", "UMLS:C2678538", "UniProtKB:A0A126GWG8", "UniProtKB:Q96R54", "PR:Q96R54", "ENSEMBL:ENSP00000355441", "ENSEMBL:ENSP00000355441.1"], "information_content": 100.0}
{"id": "NCBIGene:93474", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF670", "equivalent_identifiers": ["NCBIGene:93474", "ENSEMBL:ENSG00000277462", "HGNC:28167", "UMLS:C1538234", "UniProtKB:Q9BS34", "PR:Q9BS34", "ENSEMBL:ENSP00000355459", "ENSEMBL:ENSP00000355459.2", "UMLS:C4307933", "MESH:C000610907"], "information_content": 100.0}
{"id": "MONDO:0032735", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 48", "equivalent_identifiers": ["MONDO:0032735", "DOID:0070354", "OMIM:618415", "UMLS:C5193082", "medgen:1684457"], "information_content": 100.0}
{"id": "UniProtKB:Q8WYP5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ELYS isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYP5-3", "PR:Q8WYP5-3", "ENSEMBL:ENSP00000355465", "ENSEMBL:ENSP00000355465.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6PJW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "consortin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PJW8-1", "PR:Q6PJW8-1", "ENSEMBL:ENSP00000355470", "ENSEMBL:ENSP00000355470.4"], "information_content": 100.0}
{"id": "MONDO:0850269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "core binding factor acute myeloid leukemia", "equivalent_identifiers": ["MONDO:0850269", "DOID:0080796", "EFO:1002001", "UMLS:C3839741", "NCIT:C122688", "SNOMEDCT:702446006", "medgen:825586"], "information_content": 100.0}
{"id": "NCBIGene:64216", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TFB2M", "equivalent_identifiers": ["NCBIGene:64216", "ENSEMBL:ENSG00000162851", "HGNC:18559", "OMIM:607055", "UMLS:C1425600", "UniProtKB:Q9H5Q4", "PR:Q9H5Q4", "ENSEMBL:ENSP00000355471", "ENSEMBL:ENSP00000355471.4", "UMLS:C1138254", "MESH:C462443"], "information_content": 90.9}
{"id": "UniProtKB:Q5RI15-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome c oxidase assembly protein COX20, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5RI15-2", "PR:Q5RI15-2", "ENSEMBL:ENSP00000355486", "ENSEMBL:ENSP00000355486.3"], "information_content": 100.0}
{"id": "MONDO:0004877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient neonatal thrombocytopenia", "equivalent_identifiers": ["MONDO:0004877", "DOID:9771", "UMLS:C0158991", "MEDDRA:10044394", "SNOMEDCT:23205009", "medgen:472906", "ICD10:P61.0", "ICD9:776.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5SY80-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cation channel sperm-associated auxiliary subunit epsilon isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SY80-1", "PR:Q5SY80-1", "ENSEMBL:ENSP00000355492", "ENSEMBL:ENSP00000355492.4"], "information_content": 100.0}
{"id": "MONDO:0020337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital dyserythropoietic anemia type 1", "equivalent_identifiers": ["MONDO:0020337", "DOID:0111396", "orphanet:98869", "UMLS:C0271933", "SNOMEDCT:59548005", "medgen:82891"], "information_content": 92.8}
{"id": "NCBIGene:159", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADSS2", "equivalent_identifiers": ["NCBIGene:159", "ENSEMBL:ENSG00000035687", "HGNC:292", "OMIM:103060", "UMLS:C1412263", "UniProtKB:A0A024R5Q7", "UniProtKB:P30520", "PR:P30520", "ENSEMBL:ENSP00000355493", "ENSEMBL:ENSP00000355493.3"], "information_content": 92.8}
{"id": "UniProtKB:Q86SQ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serologically defined colon cancer antigen 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86SQ7-1", "PR:Q86SQ7-1", "ENSEMBL:ENSP00000355499", "ENSEMBL:ENSP00000355499.3", "ENSEMBL:ENSP00000483550", "ENSEMBL:ENSP00000483550.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5SW79-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 170 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SW79-1", "PR:Q5SW79-1", "ENSEMBL:ENSP00000355500", "ENSEMBL:ENSP00000355500.1", "ENSEMBL:ENSP00000483344", "ENSEMBL:ENSP00000483344.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQ84-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exonuclease 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ84-1", "PR:Q9UQ84-1", "ENSEMBL:ENSP00000311873", "ENSEMBL:ENSP00000311873.5", "ENSEMBL:ENSP00000355506", "ENSEMBL:ENSP00000355506.3"], "information_content": 100.0}
{"id": "UniProtKB:B1ANS9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 64 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:B1ANS9-1", "PR:B1ANS9-1", "ENSEMBL:ENSP00000355510", "ENSEMBL:ENSP00000355510.2"], "information_content": 100.0}
{"id": "NCBIGene:1122", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHML", "equivalent_identifiers": ["NCBIGene:1122", "ENSEMBL:ENSG00000203668", "HGNC:1941", "OMIM:118825", "UMLS:C1413395", "UniProtKB:P26374", "PR:P26374", "ENSEMBL:ENSP00000355511", "ENSEMBL:ENSP00000355511.1", "UMLS:C1437729", "MESH:C085460"], "information_content": 100.0}
{"id": "UniProtKB:Q9H1Y3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "opsin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1Y3-1", "PR:Q9H1Y3-1", "ENSEMBL:ENSP00000355512", "ENSEMBL:ENSP00000355512.2"], "information_content": 100.0}
{"id": "UniProtKB:O15229-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kynurenine 3-monooxygenase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15229-1", "PR:O15229-1", "ENSEMBL:ENSP00000355517", "ENSEMBL:ENSP00000355517.4"], "information_content": 100.0}
{"id": "UniProtKB:P07954-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fumarate hydratase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P07954-1", "PR:P07954-1", "ENSEMBL:ENSP00000355518", "ENSEMBL:ENSP00000355518.4"], "information_content": 100.0}
{"id": "MONDO:0003301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dartoic myoma", "equivalent_identifiers": ["MONDO:0003301", "DOID:5147", "UMLS:C0346066", "NCIT:C4483", "SNOMEDCT:254770007", "medgen:91078"], "information_content": 100.0}
{"id": "UniProtKB:P49802-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 7 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P49802-5", "PR:P49802-5", "ENSEMBL:ENSP00000355523", "ENSEMBL:ENSP00000355523.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92736-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ryanodine receptor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92736-1", "PR:Q92736-1", "ENSEMBL:ENSP00000355533", "ENSEMBL:ENSP00000355533.2"], "information_content": 100.0}
{"id": "UniProtKB:Q99707-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methionine synthase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99707-1", "PR:Q99707-1", "ENSEMBL:ENSP00000355536", "ENSEMBL:ENSP00000355536.5"], "information_content": 100.0}
{"id": "UniProtKB:P35609-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-actinin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35609-1", "PR:P35609-1", "ENSEMBL:ENSP00000355537", "ENSEMBL:ENSP00000355537.4"], "information_content": 100.0}
{"id": "NCBIGene:55127", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HEATR1", "equivalent_identifiers": ["NCBIGene:55127", "ENSEMBL:ENSG00000119285", "HGNC:25517", "OMIM:620390", "UMLS:C1825453", "UniProtKB:A2VDI1", "UMLS:C4042224", "MESH:C000597348", "UniProtKB:B2RWN5", "UniProtKB:Q9H583", "PR:Q9H583", "ENSEMBL:ENSP00000355541", "ENSEMBL:ENSP00000355541.3"], "information_content": 88.2}
{"id": "NCBIGene:7107", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR137B", "equivalent_identifiers": ["NCBIGene:7107", "ENSEMBL:ENSG00000077585", "HGNC:11862", "OMIM:604658", "UMLS:C1825404", "UniProtKB:O60478", "PR:O60478", "ENSEMBL:ENSP00000355551", "ENSEMBL:ENSP00000355551.3", "UMLS:C1308537", "MESH:C112315"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCR0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCR0-1", "PR:Q8NCR0-1", "ENSEMBL:ENSP00000355559", "ENSEMBL:ENSP00000355559.3", "ENSEMBL:ENSP00000489342", "ENSEMBL:ENSP00000489342.1"], "information_content": 100.0}
{"id": "NCBIGene:9804", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOMM20", "equivalent_identifiers": ["NCBIGene:9804", "ENSEMBL:ENSG00000173726", "HGNC:20947", "OMIM:601848", "UMLS:C1427202", "UniProtKB:Q15388", "PR:Q15388", "ENSEMBL:ENSP00000355566", "ENSEMBL:ENSP00000355566.4", "UMLS:C1434896", "MESH:C084008"], "information_content": 90.9}
{"id": "UniProtKB:Q7Z5L9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon regulatory factor 2-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5L9-1", "PR:Q7Z5L9-1", "ENSEMBL:ENSP00000355568", "ENSEMBL:ENSP00000355568.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5JTJ3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome c oxidase assembly factor 6 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5JTJ3-2", "PR:Q5JTJ3-2", "ENSEMBL:ENSP00000355574", "ENSEMBL:ENSP00000355574.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8IY50-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 35 member F3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY50-2", "PR:Q8IY50-2", "ENSEMBL:ENSP00000355577", "ENSEMBL:ENSP00000355577.3"], "information_content": 100.0}
{"id": "MONDO:0012172", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial trifunctional protein deficiency", "equivalent_identifiers": ["MONDO:0012172", "DOID:0111277", "OMIM.PS:609015", "orphanet:746", "UMLS:C0342785", "UMLS:C1969443", "UMLS:C4477062", "UMLS:C4477063", "MESH:C566945", "MEDDRA:10077949", "NCIT:C98991", "SNOMEDCT:237998000", "SNOMEDCT:237999008", "medgen:370665", "icd11.foundation:1018083832", "HP:0100950"], "information_content": 92.8}
{"id": "NCBIGene:3775", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNK1", "equivalent_identifiers": ["NCBIGene:3775", "ENSEMBL:ENSG00000135750", "HGNC:6272", "OMIM:601745", "UMLS:C1416591", "UniProtKB:O00180", "PR:O00180", "ENSEMBL:ENSP00000355580", "ENSEMBL:ENSP00000355580.3", "UMLS:C0667983", "MESH:C109137"], "information_content": 95.4}
{"id": "UniProtKB:Q5TCX8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 21 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TCX8-1", "PR:Q5TCX8-1", "ENSEMBL:ENSP00000355583", "ENSEMBL:ENSP00000355583.3"], "information_content": 100.0}
{"id": "NCBIGene:84284", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NTPCR", "equivalent_identifiers": ["NCBIGene:84284", "ENSEMBL:ENSG00000135778", "HGNC:28204", "UMLS:C1823204", "UniProtKB:Q5TDE9", "UniProtKB:Q9BSD7", "PR:Q9BSD7", "ENSEMBL:ENSP00000355587", "ENSEMBL:ENSP00000355587.4"], "information_content": 89.4}
{"id": "UniProtKB:Q9P2F8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal-induced proliferation-associated 1-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2F8-1", "PR:Q9P2F8-1", "ENSEMBL:ENSP00000355589", "ENSEMBL:ENSP00000355589.1", "ENSEMBL:ENSP00000502693", "ENSEMBL:ENSP00000502693.1"], "information_content": 100.0}
{"id": "NCBIGene:7257", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSNAX", "equivalent_identifiers": ["NCBIGene:7257", "ENSEMBL:ENSG00000116918", "HGNC:12380", "OMIM:602964", "UMLS:C1421206", "UniProtKB:Q99598", "PR:Q99598", "ENSEMBL:ENSP00000355599", "ENSEMBL:ENSP00000355599.3", "UMLS:C1505534", "MESH:C498305"], "information_content": 90.9}
{"id": "UniProtKB:Q9GZT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "egl nine homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZT9-1", "PR:Q9GZT9-1", "ENSEMBL:ENSP00000355601", "ENSEMBL:ENSP00000355601.3"], "information_content": 100.0}
{"id": "NCBIGene:149371", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXOC8", "equivalent_identifiers": ["NCBIGene:149371", "ENSEMBL:ENSG00000116903", "HGNC:24659", "OMIM:615283", "UMLS:C1428397", "UniProtKB:Q8IYI6", "PR:Q8IYI6", "ENSEMBL:ENSP00000355605", "ENSEMBL:ENSP00000355605.2", "UMLS:C1434255", "MESH:C480857"], "information_content": 95.4}
{"id": "UniProtKB:O15228-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dihydroxyacetone phosphate acyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15228-1", "PR:O15228-1", "ENSEMBL:ENSP00000355607", "ENSEMBL:ENSP00000355607.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZTA4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 67 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZTA4-3", "PR:Q6ZTA4-3", "ENSEMBL:ENSP00000355613", "ENSEMBL:ENSP00000355613.5"], "information_content": 100.0}
{"id": "NCBIGene:375061", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM89A", "equivalent_identifiers": ["NCBIGene:375061", "ENSEMBL:ENSG00000182118", "HGNC:25057", "UMLS:C1825180", "UniProtKB:Q96GI7", "PR:Q96GI7", "ENSEMBL:ENSP00000355614", "ENSEMBL:ENSP00000355614.4", "UMLS:C5690461", "MESH:C000722441"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetratricopeptide repeat protein 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBP0-1", "PR:Q8NBP0-1", "ENSEMBL:ENSP00000355621", "ENSEMBL:ENSP00000355621.4"], "information_content": 100.0}
{"id": "MONDO:0010665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Wilson-Turner syndrome", "equivalent_identifiers": ["MONDO:0010665", "DOID:0060814", "OMIM:309585", "orphanet:3459", "UMLS:C1839736", "MESH:C536708", "SNOMEDCT:719834005", "medgen:333393", "icd11.foundation:2015561482"], "information_content": 100.0}
{"id": "NCBIGene:183", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGT", "equivalent_identifiers": ["NCBIGene:183", "ENSEMBL:ENSG00000135744", "HGNC:333", "OMIM:106150", "UMLS:C1366631", "UniProtKB:A0A7P0T8D1", "UniProtKB:B0ZBE2", "UniProtKB:B2R5S1", "UniProtKB:P01019", "PR:P01019", "ENSEMBL:ENSP00000355627", "ENSEMBL:ENSP00000355627.5", "ENSEMBL:ENSP00000504866", "ENSEMBL:ENSP00000504866.1", "ENSEMBL:ENSP00000505063", "ENSEMBL:ENSP00000505063.1", "ENSEMBL:ENSP00000505963", "ENSEMBL:ENSP00000505963.1", "ENSEMBL:ENSP00000505985", "ENSEMBL:ENSP00000505985.1", "UMLS:C2713666", "UMLS:C3714928", "UMLS:C4521302", "MESH:C534931"], "information_content": 85.5}
{"id": "UniProtKB:Q14746-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "conserved oligomeric Golgi complex subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14746-1", "PR:Q14746-1", "ENSEMBL:ENSP00000355629", "ENSEMBL:ENSP00000355629.4"], "information_content": 100.0}
{"id": "NCBIGene:5013", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTX1", "equivalent_identifiers": ["NCBIGene:5013", "ENSEMBL:ENSG00000115507", "HGNC:8521", "OMIM:600036", "UMLS:C1418201", "UniProtKB:P32242", "PR:P32242", "ENSEMBL:ENSP00000282549", "ENSEMBL:ENSP00000282549.2", "ENSEMBL:ENSP00000355631", "ENSEMBL:ENSP00000355631.3", "UMLS:C1566686", "MESH:C497655"], "information_content": 95.4}
{"id": "UniProtKB:Q10471-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypeptide N-acetylgalactosaminyltransferase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q10471-1", "PR:Q10471-1", "ENSEMBL:ENSP00000355632", "ENSEMBL:ENSP00000355632.4"], "information_content": 100.0}
{"id": "NCBIGene:23456", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABCB10", "equivalent_identifiers": ["NCBIGene:23456", "ENSEMBL:ENSG00000135776", "HGNC:41", "OMIM:605454", "UMLS:C1412069", "UniProtKB:Q9NRK6", "PR:Q9NRK6", "ENSEMBL:ENSP00000355637", "ENSEMBL:ENSP00000355637.3", "UMLS:C0916748", "MESH:C412459"], "information_content": 92.8}
{"id": "NCBIGene:58", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTA1", "equivalent_identifiers": ["NCBIGene:58", "ENSEMBL:ENSG00000143632", "HGNC:129", "OMIM:102610", "UMLS:C1412136", "UniProtKB:P68133", "PR:P68133", "ENSEMBL:ENSP00000355645", "ENSEMBL:ENSP00000355645.3", "UMLS:C4705223", "MESH:C000626519"], "information_content": 95.4}
{"id": "NCBIGene:5867", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB4A", "equivalent_identifiers": ["NCBIGene:5867", "ENSEMBL:ENSG00000168118", "HGNC:9781", "OMIM:179511", "UMLS:C1419210", "UniProtKB:A0A087WYT5", "ENSEMBL:ENSP00000482077", "ENSEMBL:ENSP00000482077.1", "UniProtKB:P20338", "PR:P20338", "ENSEMBL:ENSP00000355651", "ENSEMBL:ENSP00000355651.4"], "information_content": 90.9}
{"id": "UniProtKB:Q7L0Q8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho-related GTP-binding protein RhoU isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L0Q8-1", "PR:Q7L0Q8-1", "ENSEMBL:ENSP00000355652", "ENSEMBL:ENSP00000355652.3", "ENSEMBL:ENSP00000494673", "ENSEMBL:ENSP00000494673.1"], "information_content": 100.0}
{"id": "NCBIGene:8290", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H3-4", "equivalent_identifiers": ["NCBIGene:8290", "ENSEMBL:ENSG00000168148", "HGNC:4778", "OMIM:602820", "UMLS:C1442482", "UniProtKB:Q16695", "PR:Q16695", "ENSEMBL:ENSP00000355657", "ENSEMBL:ENSP00000355657.2", "ENSEMBL:ENSP00000494070", "ENSEMBL:ENSP00000494070.1", "UMLS:C4722636"], "information_content": 86.3}
{"id": "UniProtKB:Q9Y577-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM17 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y577-1", "PR:Q9Y577-1", "ENSEMBL:ENSP00000295033", "ENSEMBL:ENSP00000295033.3", "ENSEMBL:ENSP00000355658", "ENSEMBL:ENSP00000355658.2", "ENSEMBL:ENSP00000355659", "ENSEMBL:ENSP00000355659.2"], "information_content": 100.0}
{"id": "NCBIGene:200205", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IBA57", "equivalent_identifiers": ["NCBIGene:200205", "ENSEMBL:ENSG00000181873", "HGNC:27302", "OMIM:615316", "UMLS:C1823215", "UniProtKB:B4E1G9", "UMLS:C3711358", "MESH:C585465", "UniProtKB:Q5T440", "PR:Q5T440", "ENSEMBL:ENSP00000355672", "ENSEMBL:ENSP00000355672.3"], "information_content": 100.0}
{"id": "NCBIGene:57165", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJC2", "equivalent_identifiers": ["NCBIGene:57165", "ENSEMBL:ENSG00000198835", "HGNC:17494", "OMIM:608803", "UMLS:C1424981", "UniProtKB:A0A654IBV7", "UMLS:C2976470", "UniProtKB:Q5T442", "PR:Q5T442", "ENSEMBL:ENSP00000355675", "ENSEMBL:ENSP00000355675.2"], "information_content": 100.0}
{"id": "UniProtKB:Q16774-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanylate kinase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q16774-3", "PR:Q16774-3", "ENSEMBL:ENSP00000355689", "ENSEMBL:ENSP00000355689.2"], "information_content": 100.0}
{"id": "UniProtKB:O00548-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "delta-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00548-1", "PR:O00548-1", "ENSEMBL:ENSP00000355718", "ENSEMBL:ENSP00000355718.3", "ENSEMBL:ENSP00000480905", "ENSEMBL:ENSP00000480905.1"], "information_content": 100.0}
{"id": "NCBIGene:339501", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS38", "equivalent_identifiers": ["NCBIGene:339501", "ENSEMBL:ENSG00000185888", "HGNC:29625", "UMLS:C2828569", "UniProtKB:A1L453", "PR:A1L453", "ENSEMBL:ENSP00000355719", "ENSEMBL:ENSP00000355719.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5VT25-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase MRCK alpha isoform 5 (human)", "equivalent_identifiers": ["UniProtKB:Q5VT25-5", "PR:Q5VT25-5", "ENSEMBL:ENSP00000355731", "ENSEMBL:ENSP00000355731.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5T6L9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endoplasmic reticulum membrane-associated RNA degradation protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T6L9-1", "PR:Q5T6L9-1", "ENSEMBL:ENSP00000355735", "ENSEMBL:ENSP00000355735.3", "ENSEMBL:ENSP00000483960", "ENSEMBL:ENSP00000483960.2"], "information_content": 100.0}
{"id": "NCBIGene:6991", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYNLT2", "equivalent_identifiers": ["NCBIGene:6991", "ENSEMBL:ENSG00000184786", "HGNC:11695", "OMIM:186977", "UMLS:C1420663", "UniProtKB:Q8IZS6", "PR:Q8IZS6", "ENSEMBL:ENSP00000355736", "ENSEMBL:ENSP00000355736.3", "ENSEMBL:ENSP00000478684", "ENSEMBL:ENSP00000478684.1", "UMLS:C1175379", "MESH:C533377"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000355741", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000355741", "equivalent_identifiers": ["ENSEMBL:ENSP00000355741"]}
{"id": "UniProtKB:P49810-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "presenilin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49810-1", "PR:P49810-1", "ENSEMBL:ENSP00000355746", "ENSEMBL:ENSP00000355746.2", "ENSEMBL:ENSP00000355747", "ENSEMBL:ENSP00000355747.3", "ENSEMBL:ENSP00000429036", "ENSEMBL:ENSP00000429036.2", "ENSEMBL:ENSP00000486498", "ENSEMBL:ENSP00000486498.2", "ENSEMBL:ENSP00000503116", "ENSEMBL:ENSP00000503116.1", "ENSEMBL:ENSP00000504303", "ENSEMBL:ENSP00000504303.1", "ENSEMBL:ENSP00000504727", "ENSEMBL:ENSP00000504727.1", "ENSEMBL:ENSP00000504728", "ENSEMBL:ENSP00000504728.1"], "information_content": 100.0}
{"id": "NCBIGene:7058", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THBS2", "equivalent_identifiers": ["NCBIGene:7058", "ENSEMBL:ENSG00000186340", "HGNC:11786", "OMIM:188061", "UMLS:C1336627", "UniProtKB:A0A7I2V585", "ENSEMBL:ENSP00000504416", "ENSEMBL:ENSP00000504416.1", "UniProtKB:P35442", "PR:P35442", "ENSEMBL:ENSP00000355751", "ENSEMBL:ENSP00000355751.3", "ENSEMBL:ENSP00000482784", "ENSEMBL:ENSP00000482784.1", "ENSEMBL:ENSP00000503020", "ENSEMBL:ENSP00000503020.1", "ENSEMBL:ENSP00000504820", "ENSEMBL:ENSP00000504820.1", "UMLS:C1609935"], "information_content": 84.2}
{"id": "NCBIGene:375057", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STUM", "equivalent_identifiers": ["NCBIGene:375057", "ENSEMBL:ENSG00000203685", "HGNC:30491", "UMLS:C1823715", "UniProtKB:F8WD64", "ENSEMBL:ENSP00000355753", "ENSEMBL:ENSP00000355753.5", "UniProtKB:Q69YW2", "PR:Q69YW2", "ENSEMBL:ENSP00000355752", "ENSEMBL:ENSP00000355752.3"], "information_content": 100.0}
{"id": "NCBIGene:142", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PARP1", "equivalent_identifiers": ["NCBIGene:142", "ENSEMBL:ENSG00000143799", "HGNC:270", "OMIM:173870", "UMLS:C1538577", "UniProtKB:P09874", "PR:P09874", "ENSEMBL:ENSP00000355759", "ENSEMBL:ENSP00000355759.5", "UMLS:C1567710", "UMLS:C3641724", "MESH:C499320"], "information_content": 83.6}
{"id": "UniProtKB:Q5SW24-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dapper homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SW24-1", "PR:Q5SW24-1", "ENSEMBL:ENSP00000355760", "ENSEMBL:ENSP00000355760.3"], "information_content": 100.0}
{"id": "NCBIGene:4301", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AFDN", "equivalent_identifiers": ["NCBIGene:4301", "ENSEMBL:ENSG00000130396", "HGNC:7137", "OMIM:159559", "UMLS:C1334516", "UniProtKB:A0A1P7ZIN0", "UniProtKB:A0A804HJ20", "ENSEMBL:ENSP00000507324", "ENSEMBL:ENSP00000507324.1", "UniProtKB:A8MQ02", "ENSEMBL:ENSP00000355771", "ENSEMBL:ENSP00000355771.3", "UniProtKB:G1UI22", "UniProtKB:J3KN01", "ENSEMBL:ENSP00000252692", "ENSEMBL:ENSP00000252692.6", "UniProtKB:P55196", "PR:P55196", "UMLS:C1505151", "MESH:C095516"]}
{"id": "NCBIGene:64746", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACBD3", "equivalent_identifiers": ["NCBIGene:64746", "ENSEMBL:ENSG00000182827", "HGNC:15453", "OMIM:606809", "UMLS:C1423499", "UniProtKB:Q9H3P7", "PR:Q9H3P7", "ENSEMBL:ENSP00000355777", "ENSEMBL:ENSP00000355777.5", "UMLS:C1448274", "MESH:C449459"], "information_content": 90.9}
{"id": "MONDO:0010854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Toriello-Lacassie-Droste syndrome", "equivalent_identifiers": ["MONDO:0010854", "DOID:0111705", "OMIM:600268", "orphanet:3339", "UMLS:C1838329", "MESH:C563969", "SNOMEDCT:723554006", "medgen:333068", "icd11.foundation:1983176633"], "information_content": 100.0}
{"id": "UniProtKB:O00292-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "left-right determination factor 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00292-1", "PR:O00292-1", "ENSEMBL:ENSP00000355785", "ENSEMBL:ENSP00000355785.5"], "information_content": 92.8}
{"id": "NCBIGene:2853", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR31", "equivalent_identifiers": ["NCBIGene:2853", "ENSEMBL:ENSG00000120436", "HGNC:4486", "OMIM:602043", "UMLS:C1415224", "UniProtKB:O00270", "PR:O00270", "ENSEMBL:ENSP00000355799", "ENSEMBL:ENSP00000355799.2", "UMLS:C1259293", "MESH:C501953"], "information_content": 95.4}
{"id": "NCBIGene:9725", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM63A", "equivalent_identifiers": ["NCBIGene:9725", "ENSEMBL:ENSG00000196187", "HGNC:29118", "OMIM:618685", "UMLS:C1823325", "UniProtKB:O94886", "PR:O94886", "ENSEMBL:ENSP00000355800", "ENSEMBL:ENSP00000355800.3", "UMLS:C5690364", "MESH:C000721650"], "information_content": 100.0}
{"id": "UniProtKB:Q8N8S7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein enabled homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8S7-1", "PR:Q8N8S7-1", "ENSEMBL:ENSP00000355809", "ENSEMBL:ENSP00000355809.2"], "information_content": 100.0}
{"id": "UniProtKB:O95684-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein 43 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95684-1", "PR:O95684-1", "ENSEMBL:ENSP00000355812", "ENSEMBL:ENSP00000355812.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVF7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 28 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVF7-1", "PR:Q9NVF7-1", "ENSEMBL:ENSP00000355827", "ENSEMBL:ENSP00000355827.5"], "information_content": 100.0}
{"id": "NCBIGene:388743", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAPN8", "equivalent_identifiers": ["NCBIGene:388743", "ENSEMBL:ENSG00000203697", "HGNC:1485", "OMIM:618777", "UMLS:C1413118", "UniProtKB:A6NHC0", "PR:A6NHC0", "ENSEMBL:ENSP00000355837", "ENSEMBL:ENSP00000355837.6", "UMLS:C4546466", "MESH:C000624551", "UniProtKB:B1B154", "ENSEMBL:ENSP00000355838", "ENSEMBL:ENSP00000355838.2"], "information_content": 95.4}
{"id": "NCBIGene:164127", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC185", "equivalent_identifiers": ["NCBIGene:164127", "ENSEMBL:ENSG00000178395", "HGNC:26654", "UMLS:C1823211", "UniProtKB:Q8N715", "PR:Q8N715", "ENSEMBL:ENSP00000355840", "ENSEMBL:ENSP00000355840.3"], "information_content": 100.0}
{"id": "UniProtKB:A0AAA9X175", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0AAA9X175_HUMAN Phosphodiesterase (trembl)", "equivalent_identifiers": ["UniProtKB:A0AAA9X175", "ENSEMBL:ENSP00000355847", "ENSEMBL:ENSP00000355847.3"]}
{"id": "UniProtKB:O60260-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase parkin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60260-1", "PR:O60260-1", "ENSEMBL:ENSP00000355865", "ENSEMBL:ENSP00000355865.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6W6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein phosphatase 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6W6-1", "PR:Q9Y6W6-1", "ENSEMBL:ENSP00000355866", "ENSEMBL:ENSP00000355866.3"], "information_content": 100.0}
{"id": "NCBIGene:3142", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLX", "equivalent_identifiers": ["NCBIGene:3142", "ENSEMBL:ENSG00000136630", "HGNC:4978", "OMIM:142995", "UMLS:C1415595", "UniProtKB:Q14774", "PR:Q14774", "ENSEMBL:ENSP00000355870", "ENSEMBL:ENSP00000355870.5", "UMLS:C1171676", "MESH:C084058"], "information_content": 95.4}
{"id": "MONDO:0020439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patent foramen ovale", "equivalent_identifiers": ["MONDO:0020439", "DOID:13620", "UMLS:C0016522", "MESH:D054092", "MEDDRA:10016982", "NCIT:C34619", "SNOMEDCT:204317008", "medgen:8891", "ICD10:Q21.12", "HP:0001655"], "information_content": 95.4}
{"id": "UniProtKB:Q5VT66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial amidoxime-reducing component 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VT66-1", "PR:Q5VT66-1", "ENSEMBL:ENSP00000355877", "ENSEMBL:ENSP00000355877.5"], "information_content": 100.0}
{"id": "UniProtKB:Q969Z3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial amidoxime reducing component 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969Z3-1", "PR:Q969Z3-1", "ENSEMBL:ENSP00000355880", "ENSEMBL:ENSP00000355880.3"], "information_content": 100.0}
{"id": "NCBIGene:55699", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IARS2", "equivalent_identifiers": ["NCBIGene:55699", "ENSEMBL:ENSG00000067704", "HGNC:29685", "OMIM:612801", "UMLS:C1825559", "UniProtKB:Q9NSE4", "PR:Q9NSE4", "ENSEMBL:ENSP00000355889", "ENSEMBL:ENSP00000355889.2"], "information_content": 90.9}
{"id": "NCBIGene:2058", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPRS1", "equivalent_identifiers": ["NCBIGene:2058", "ENSEMBL:ENSG00000136628", "HGNC:3418", "OMIM:138295", "UMLS:C1414437", "UniProtKB:P07814", "PR:P07814", "ENSEMBL:ENSP00000355890", "ENSEMBL:ENSP00000355890.3"], "information_content": 83.1}
{"id": "UniProtKB:Q6XR72-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium/manganese antiporter SLC30A10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6XR72-4", "PR:Q6XR72-4", "ENSEMBL:ENSP00000355893", "ENSEMBL:ENSP00000355893.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5VWZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysophospholipase-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VWZ2-1", "PR:Q5VWZ2-1", "ENSEMBL:ENSP00000355895", "ENSEMBL:ENSP00000355895.5"], "information_content": 100.0}
{"id": "UniProtKB:P61812-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transforming growth factor beta-2 isoform B (human)", "equivalent_identifiers": ["UniProtKB:P61812-2", "PR:P61812-2", "ENSEMBL:ENSP00000355896", "ENSEMBL:ENSP00000355896.4"], "information_content": 92.8}
{"id": "NCBIGene:128153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA17", "equivalent_identifiers": ["NCBIGene:128153", "ENSEMBL:ENSG00000162814", "HGNC:25184", "OMIM:611032", "UMLS:C1823089", "UniProtKB:Q96L03", "PR:Q96L03", "ENSEMBL:ENSP00000355900", "ENSEMBL:ENSP00000355900.4", "UMLS:C3657305", "MESH:C581692"], "information_content": 100.0}
{"id": "MONDO:0005452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bulimia nervosa", "equivalent_identifiers": ["MONDO:0005452", "DOID:12129", "EFO:0005204", "UMLS:C2267227", "MESH:D052018", "MEDDRA:10006550", "NCIT:C34440", "SNOMEDCT:78004001", "medgen:389218", "icd11.foundation:509381842", "ICD10:F50.2"], "information_content": 95.4}
{"id": "MONDO:0005351", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Anorexia", "equivalent_identifiers": ["MONDO:0005351", "DOID:8689", "UMLS:C0003123", "UMLS:C0003125", "UMLS:C0424424", "UMLS:C1971624", "MESH:D000855", "MESH:D000856", "MEDDRA:10002646", "MEDDRA:10002649", "MEDDRA:10003017", "MEDDRA:10003025", "MEDDRA:10003028", "MEDDRA:10052625", "MEDDRA:10080283", "NCIT:C2875", "NCIT:C34387", "SNOMEDCT:105481005", "SNOMEDCT:56882008", "SNOMEDCT:79890006", "medgen:316", "icd11.foundation:263852475", "ICD10:F50.0", "ICD9:307.1", "HP:0002039"], "information_content": 67.6}
{"id": "UniProtKB:Q9NW75-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G patch domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NW75-1", "PR:Q9NW75-1", "ENSEMBL:ENSP00000355902", "ENSEMBL:ENSP00000355902.3"], "information_content": 100.0}
{"id": "UniProtKB:P62508-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "estrogen-related receptor gamma isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P62508-5", "PR:P62508-5", "ENSEMBL:ENSP00000355904", "ENSEMBL:ENSP00000355904.1"], "information_content": 100.0}
{"id": "UniProtKB:O15244-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 22 member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15244-1", "PR:O15244-1", "ENSEMBL:ENSP00000355920", "ENSEMBL:ENSP00000355920.3"], "information_content": 100.0}
{"id": "NCBIGene:1063", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CENPF", "equivalent_identifiers": ["NCBIGene:1063", "ENSEMBL:ENSG00000117724", "HGNC:1857", "OMIM:600236", "UMLS:C1332752", "UniProtKB:A0A9L9PXU7", "ENSEMBL:ENSP00000516538", "ENSEMBL:ENSP00000516538.1", "UniProtKB:P49454", "PR:P49454", "ENSEMBL:ENSP00000355922", "ENSEMBL:ENSP00000355922.3", "UMLS:C1743958"], "information_content": 79.0}
{"id": "NCBIGene:5784", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTPN14", "equivalent_identifiers": ["NCBIGene:5784", "ENSEMBL:ENSG00000152104", "HGNC:9647", "OMIM:603155", "UMLS:C1419097", "UniProtKB:A8K6H6", "UniProtKB:Q15678", "PR:Q15678", "ENSEMBL:ENSP00000355923", "ENSEMBL:ENSP00000355923.4", "UMLS:C1430253", "MESH:C093261"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRG4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-lysine methyltransferase SMYD2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRG4-1", "PR:Q9NRG4-1", "ENSEMBL:ENSP00000355924", "ENSEMBL:ENSP00000355924.5"], "information_content": 100.0}
{"id": "NCBIGene:5629", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PROX1", "equivalent_identifiers": ["NCBIGene:5629", "ENSEMBL:ENSG00000117707", "HGNC:9459", "OMIM:601546", "UMLS:C1418951", "UniProtKB:Q92786", "PR:Q92786", "ENSEMBL:ENSP00000355925", "ENSEMBL:ENSP00000355925.4", "ENSEMBL:ENSP00000400694", "ENSEMBL:ENSP00000400694.1", "UMLS:C1738234", "UMLS:C2697613", "MESH:C000729776"], "information_content": 95.4}
{"id": "UniProtKB:Q96S38-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal protein S6 kinase delta-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96S38-1", "PR:Q96S38-1", "ENSEMBL:ENSP00000355927", "ENSEMBL:ENSP00000355927.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5VTE6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein angel homolog 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VTE6-1", "PR:Q5VTE6-1", "ENSEMBL:ENSP00000355929", "ENSEMBL:ENSP00000355929.3"], "information_content": 100.0}
{"id": "UniProtKB:O15245-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 22 member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15245-1", "PR:O15245-1", "ENSEMBL:ENSP00000355930", "ENSEMBL:ENSP00000355930.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5Y0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choline/ethanolamine transporter FLVCR1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5Y0-1", "PR:Q9Y5Y0-1", "ENSEMBL:ENSP00000355938", "ENSEMBL:ENSP00000355938.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96IY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinetochore-associated protein NSL1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96IY1-1", "PR:Q96IY1-1", "ENSEMBL:ENSP00000355944", "ENSEMBL:ENSP00000355944.3"], "information_content": 100.0}
{"id": "NCBIGene:29937", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NENF", "equivalent_identifiers": ["NCBIGene:29937", "ENSEMBL:ENSG00000117691", "HGNC:30384", "OMIM:611874", "UMLS:C1826397", "UniProtKB:Q9UMX5", "PR:Q9UMX5", "ENSEMBL:ENSP00000355955", "ENSEMBL:ENSP00000355955.3", "UMLS:C1569584", "MESH:C500818"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZJ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "denticleless protein homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZJ0-1", "PR:Q9NZJ0-1", "ENSEMBL:ENSP00000355958", "ENSEMBL:ENSP00000355958.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVH2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrator complex subunit 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVH2-1", "PR:Q9NVH2-1", "ENSEMBL:ENSP00000355961", "ENSEMBL:ENSP00000355961.3"], "information_content": 100.0}
{"id": "NCBIGene:9926", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LPGAT1", "equivalent_identifiers": ["NCBIGene:9926", "ENSEMBL:ENSG00000123684", "HGNC:28985", "OMIM:610473", "UMLS:C1537584", "UniProtKB:Q92604", "PR:Q92604", "ENSEMBL:ENSP00000355963", "ENSEMBL:ENSP00000355963.1", "ENSEMBL:ENSP00000355964", "ENSEMBL:ENSP00000355964.4", "UMLS:C1565867", "MESH:C496548"], "information_content": 89.4}
{"id": "UniProtKB:P51955-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Nek2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51955-1", "PR:P51955-1", "ENSEMBL:ENSP00000355966", "ENSEMBL:ENSP00000355966.4"], "information_content": 100.0}
{"id": "NCBIGene:7779", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC30A1", "equivalent_identifiers": ["NCBIGene:7779", "ENSEMBL:ENSG00000170385", "HGNC:11012", "OMIM:609521", "UMLS:C1420178", "UniProtKB:Q9Y6M5", "PR:Q9Y6M5", "ENSEMBL:ENSP00000355968", "ENSEMBL:ENSP00000355968.4", "UMLS:C1454352", "MESH:C498299"], "information_content": 95.4}
{"id": "NCBIGene:343035", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RD3", "equivalent_identifiers": ["NCBIGene:343035", "ENSEMBL:ENSG00000198570", "HGNC:19689", "OMIM:180040", "UMLS:C1826790", "UniProtKB:Q7Z3Z2", "PR:Q7Z3Z2", "ENSEMBL:ENSP00000355969", "ENSEMBL:ENSP00000355969.4", "ENSEMBL:ENSP00000505312", "ENSEMBL:ENSP00000505312.1", "UMLS:C1311745", "MESH:C477438"], "information_content": 95.4}
{"id": "UniProtKB:O14896-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon regulatory factor 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14896-1", "PR:O14896-1", "ENSEMBL:ENSP00000355988", "ENSEMBL:ENSP00000355988.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y228-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TRAF3-interacting JNK-activating modulator isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y228-1", "PR:Q9Y228-1", "ENSEMBL:ENSP00000355991", "ENSEMBL:ENSP00000355991.1", "ENSEMBL:ENSP00000355992", "ENSEMBL:ENSP00000355992.3"], "information_content": 100.0}
{"id": "NCBIGene:3290", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSD11B1", "equivalent_identifiers": ["NCBIGene:3290", "ENSEMBL:ENSG00000117594", "HGNC:5208", "OMIM:600713", "UMLS:C1415736", "UniProtKB:P28845", "PR:P28845", "ENSEMBL:ENSP00000355994", "ENSEMBL:ENSP00000355994.3", "ENSEMBL:ENSP00000355995", "ENSEMBL:ENSP00000355995.1", "UMLS:C1310540", "UMLS:C3715112", "MESH:C468386", "UniProtKB:X5D2L1"], "information_content": 89.4}
{"id": "NCBIGene:50486", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "G0S2", "equivalent_identifiers": ["NCBIGene:50486", "ENSEMBL:ENSG00000123689", "HGNC:30229", "OMIM:614447", "UMLS:C1825423", "UniProtKB:P27469", "PR:P27469", "ENSEMBL:ENSP00000355996", "ENSEMBL:ENSP00000355996.4", "UMLS:C1700653", "MESH:C508073"], "information_content": 95.4}
{"id": "UniProtKB:O75051-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plexin-A2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75051-1", "PR:O75051-1", "ENSEMBL:ENSP00000356000", "ENSEMBL:ENSP00000356000.3"], "information_content": 100.0}
{"id": "MONDO:0014262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Rienhoff syndrome", "equivalent_identifiers": ["MONDO:0014262", "DOID:0070236", "OMIM:615582", "EFO:1000012", "UMLS:C3810012", "NCIT:C188143", "medgen:816342"], "information_content": 100.0}
{"id": "UniProtKB:Q9BWD1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetyl-CoA acetyltransferase, cytosolic isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWD1-1", "PR:Q9BWD1-1", "ENSEMBL:ENSP00000356015", "ENSEMBL:ENSP00000356015.4"], "information_content": 100.0}
{"id": "NCBIGene:1378", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CR1", "equivalent_identifiers": ["NCBIGene:1378", "ENSEMBL:ENSG00000203710", "HGNC:2334", "OMIM:120620", "UMLS:C1413694", "UniProtKB:E9PDY4", "ENSEMBL:ENSP00000356016", "ENSEMBL:ENSP00000356016.4", "UniProtKB:P17927", "PR:P17927", "ENSEMBL:ENSP00000356018", "ENSEMBL:ENSP00000356018.1", "ENSEMBL:ENSP00000356020", "ENSEMBL:ENSP00000356020.1", "ENSEMBL:ENSP00000383744", "ENSEMBL:ENSP00000383744.2", "UMLS:C1721462", "MESH:C509991"]}
{"id": "UniProtKB:P20023-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complement receptor type 2 isoform C (human)", "equivalent_identifiers": ["UniProtKB:P20023-3", "PR:P20023-3", "ENSEMBL:ENSP00000356024", "ENSEMBL:ENSP00000356024.3"], "information_content": 100.0}
{"id": "MONDO:0002259", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gonadal disease", "equivalent_identifiers": ["MONDO:0002259", "DOID:2277", "UMLS:C0018050", "MESH:D006058", "NCIT:C26786", "medgen:9074"], "information_content": 58.8}
{"id": "NCBIGene:1604", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD55", "equivalent_identifiers": ["NCBIGene:1604", "ENSEMBL:ENSG00000196352", "HGNC:2665", "OMIM:125240", "UMLS:C1824670", "UniProtKB:B1AP13", "ENSEMBL:ENSP00000356030", "ENSEMBL:ENSP00000356030.2", "UniProtKB:P08174", "PR:P08174", "UMLS:C4721410"]}
{"id": "MONDO:0005634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute hemorrhagic conjunctivitis", "equivalent_identifiers": ["MONDO:0005634", "DOID:11227", "EFO:0007131", "UMLS:C0009765", "MESH:D003232", "MEDDRA:10014973", "MEDDRA:10014974", "MEDDRA:10067817", "MEDDRA:10067818", "NCIT:C34505", "SNOMEDCT:398264003", "medgen:1094", "ICD9:077.4"], "information_content": 100.0}
{"id": "MONDO:0020143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral lipidosis with dementia", "equivalent_identifiers": ["MONDO:0020143", "DOID:10742", "orphanet:98544", "UMLS:C0007788", "UMLS:C5681730", "SNOMEDCT:16517004", "medgen:1825994", "ICD9:330.1"], "information_content": 78.0}
{"id": "UniProtKB:Q8N103-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell activation Rho GTPase-activating protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N103-1", "PR:Q8N103-1", "ENSEMBL:ENSP00000356033", "ENSEMBL:ENSP00000356033.4"], "information_content": 100.0}
{"id": "NCBIGene:722", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C4BPA", "equivalent_identifiers": ["NCBIGene:722", "ENSEMBL:ENSG00000123838", "HGNC:1325", "OMIM:120830", "UMLS:C1413001", "UniProtKB:P04003", "PR:P04003", "ENSEMBL:ENSP00000356037", "ENSEMBL:ENSP00000356037.3", "UMLS:C1448577", "MESH:C055609"], "information_content": 81.7}
{"id": "UniProtKB:O60825-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60825-1", "PR:O60825-1", "ENSEMBL:ENSP00000356047", "ENSEMBL:ENSP00000356047.3"], "information_content": 100.0}
{"id": "NCBIGene:6993", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYNLT1", "equivalent_identifiers": ["NCBIGene:6993", "ENSEMBL:ENSG00000146425", "HGNC:11697", "OMIM:601554", "UMLS:C1825018", "UniProtKB:P63172", "PR:P63172", "ENSEMBL:ENSP00000356056", "ENSEMBL:ENSP00000356056.3", "UMLS:C1451629", "MESH:C533376"], "information_content": 85.5}
{"id": "UniProtKB:Q9P2C4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 181 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2C4-1", "PR:Q9P2C4-1", "ENSEMBL:ENSP00000356057", "ENSEMBL:ENSP00000356057.4"], "information_content": 100.0}
{"id": "MONDO:0008226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periodontitis, aggressive 1", "equivalent_identifiers": ["MONDO:0008226", "DOID:1474", "OMIM:170650", "EFO:0006342", "UMLS:C0031106", "UMLS:C0266928", "UMLS:C4551681", "MESH:D010520", "SNOMEDCT:449908004", "medgen:1644602", "ICD10:K05.2"], "information_content": 100.0}
{"id": "UniProtKB:O60667-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "immunoglobulin mu Fc receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60667-1", "PR:O60667-1", "ENSEMBL:ENSP00000356058", "ENSEMBL:ENSP00000356058.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRJ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubby-related protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRJ4-1", "PR:Q9NRJ4-1", "ENSEMBL:ENSP00000356064", "ENSEMBL:ENSP00000356064.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-20 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYY1-1", "PR:Q9NYY1-1", "ENSEMBL:ENSP00000356063", "ENSEMBL:ENSP00000356063.3", "ENSEMBL:ENSP00000356065", "ENSEMBL:ENSP00000356065.1"], "information_content": 100.0}
{"id": "UniProtKB:P49137-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAP kinase-activated protein kinase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49137-1", "PR:P49137-1", "ENSEMBL:ENSP00000356070", "ENSEMBL:ENSP00000356070.4"], "information_content": 100.0}
{"id": "UniProtKB:O43781-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity tyrosine-phosphorylation-regulated kinase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43781-1", "PR:O43781-1", "ENSEMBL:ENSP00000356076", "ENSEMBL:ENSP00000356076.2"], "information_content": 100.0}
{"id": "NCBIGene:440712", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHEX", "equivalent_identifiers": ["NCBIGene:440712", "ENSEMBL:ENSG00000263961", "HGNC:25341", "OMIM:616088", "UMLS:C1823800", "UniProtKB:Q6ZWK4", "PR:Q6ZWK4", "ENSEMBL:ENSP00000356093", "ENSEMBL:ENSP00000356093.1", "ENSEMBL:ENSP00000463990", "ENSEMBL:ENSP00000463990.1", "ENSEMBL:ENSP00000474994", "ENSEMBL:ENSP00000474994.1", "UMLS:C3884308", "MESH:C000592506"], "information_content": 95.4}
{"id": "MONDO:0006216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gallbladder adenoma", "equivalent_identifiers": ["MONDO:0006216", "DOID:0050893", "EFO:1000263", "UMLS:C0238137", "MEDDRA:10076240", "NCIT:C7720", "SNOMEDCT:1196878005", "medgen:116046"], "information_content": 92.8}
{"id": "NCBIGene:553", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AVPR1B", "equivalent_identifiers": ["NCBIGene:553", "ENSEMBL:ENSG00000198049", "HGNC:896", "OMIM:600264", "UMLS:C1332123", "UniProtKB:P47901", "PR:P47901", "ENSEMBL:ENSP00000356094", "ENSEMBL:ENSP00000356094.4"], "information_content": 100.0}
{"id": "UniProtKB:Q7LBE3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 26 member 9 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7LBE3-2", "PR:Q7LBE3-2", "ENSEMBL:ENSP00000341682", "ENSEMBL:ENSP00000341682.4", "ENSEMBL:ENSP00000356102", "ENSEMBL:ENSP00000356102.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6GTS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-fatty-acyl-amino acid synthase/hydrolase PM20D1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6GTS8-1", "PR:Q6GTS8-1", "ENSEMBL:ENSP00000356104", "ENSEMBL:ENSP00000356104.4"], "information_content": 100.0}
{"id": "NCBIGene:254428", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC41A1", "equivalent_identifiers": ["NCBIGene:254428", "ENSEMBL:ENSG00000133065", "HGNC:19429", "OMIM:610801", "UMLS:C1426238", "UniProtKB:B2RMP2", "UMLS:C1310742", "MESH:C476304", "UniProtKB:Q8IVJ1", "PR:Q8IVJ1", "ENSEMBL:ENSP00000356105", "ENSEMBL:ENSP00000356105.3"], "information_content": 100.0}
{"id": "MONDO:0009793", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome III", "equivalent_identifiers": ["MONDO:0009793", "DOID:0060373", "OMIM:258850", "UMLS:C0406726", "MESH:C557817", "SNOMEDCT:239030004", "medgen:96069"], "information_content": 100.0}
{"id": "MONDO:0012049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome VII", "equivalent_identifiers": ["MONDO:0012049", "DOID:0060377", "OMIM:608518", "UMLS:C0796100", "MESH:C563104", "medgen:162907"], "information_content": 100.0}
{"id": "UniProtKB:O14966-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-7L1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14966-1", "PR:O14966-1", "ENSEMBL:ENSP00000235932", "ENSEMBL:ENSP00000235932.4", "ENSEMBL:ENSP00000356107", "ENSEMBL:ENSP00000356107.3", "ENSEMBL:ENSP00000402910", "ENSEMBL:ENSP00000402910.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H1E3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear ubiquitous casein and cyclin-dependent kinase substrate 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1E3-1", "PR:Q9H1E3-1", "ENSEMBL:ENSP00000356110", "ENSEMBL:ENSP00000356110.4"], "information_content": 100.0}
{"id": "NCBIGene:85414", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC45A3", "equivalent_identifiers": ["NCBIGene:85414", "ENSEMBL:ENSG00000158715", "HGNC:8642", "OMIM:605097", "UMLS:C1822765", "UniProtKB:Q96JT2", "PR:Q96JT2", "ENSEMBL:ENSP00000356113", "ENSEMBL:ENSP00000356113.3", "UMLS:C2935551", "MESH:C551031"], "information_content": 92.8}
{"id": "MONDO:0006561", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eyelid hypopigmentation", "equivalent_identifiers": ["MONDO:0006561", "DOID:11668", "EFO:1000713", "UMLS:C0155212", "MEDDRA:10021065", "SNOMEDCT:68210006", "medgen:509852", "ICD10:H02.73", "ICD9:374.53"], "information_content": 100.0}
{"id": "UniProtKB:Q8N468-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "major facilitator superfamily domain-containing protein 4A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N468-1", "PR:Q8N468-1", "ENSEMBL:ENSP00000356115", "ENSEMBL:ENSP00000356115.4"], "information_content": 100.0}
{"id": "UniProtKB:Q68G75-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LEM domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68G75-1", "PR:Q68G75-1", "ENSEMBL:ENSP00000356119", "ENSEMBL:ENSP00000356119.3", "ENSEMBL:ENSP00000356121", "ENSEMBL:ENSP00000356121.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6XUX3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual serine/threonine and tyrosine protein kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6XUX3-1", "PR:Q6XUX3-1", "ENSEMBL:ENSP00000356130", "ENSEMBL:ENSP00000356130.3"], "information_content": 100.0}
{"id": "NCBIGene:51106", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TFB1M", "equivalent_identifiers": ["NCBIGene:51106", "ENSEMBL:ENSG00000029639", "HGNC:17037", "OMIM:607033", "UMLS:C1424702", "UniProtKB:E5KTM5", "UMLS:C1434848", "MESH:C499632", "UniProtKB:Q8WVM0", "PR:Q8WVM0", "ENSEMBL:ENSP00000356134", "ENSEMBL:ENSP00000356134.4"], "information_content": 95.4}
{"id": "NCBIGene:388730", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM81", "equivalent_identifiers": ["NCBIGene:388730", "ENSEMBL:ENSG00000174529", "HGNC:32349", "UMLS:C1823342", "UniProtKB:Q6P7N7", "PR:Q6P7N7", "ENSEMBL:ENSP00000356135", "ENSEMBL:ENSP00000356135.3"], "information_content": 95.4}
{"id": "NCBIGene:10446", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRN2", "equivalent_identifiers": ["NCBIGene:10446", "ENSEMBL:ENSG00000170382", "HGNC:16914", "OMIM:605492", "UMLS:C1424631", "UniProtKB:O75325", "PR:O75325", "ENSEMBL:ENSP00000356143", "ENSEMBL:ENSP00000356143.1", "ENSEMBL:ENSP00000356144", "ENSEMBL:ENSP00000356144.3", "ENSEMBL:ENSP00000356145", "ENSEMBL:ENSP00000356145.3", "UMLS:C1308623", "MESH:C113373"], "information_content": 100.0}
{"id": "MONDO:0003470", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cellular ependymoma", "equivalent_identifiers": ["MONDO:0003470", "DOID:5500", "UMLS:C1384403", "NCIT:C4713", "SNOMEDCT:253067007", "medgen:235137"], "information_content": 100.0}
{"id": "UniProtKB:O15151-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Mdm4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15151-1", "PR:O15151-1", "ENSEMBL:ENSP00000356150", "ENSEMBL:ENSP00000356150.3"], "information_content": 95.4}
{"id": "NCBIGene:5287", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIK3C2B", "equivalent_identifiers": ["NCBIGene:5287", "ENSEMBL:ENSG00000133056", "HGNC:8972", "OMIM:602838", "UMLS:C1418572", "UniProtKB:A2RUF7", "UniProtKB:F5GWN5", "ENSEMBL:ENSP00000400561", "ENSEMBL:ENSP00000400561.2", "UniProtKB:O00750", "PR:O00750", "ENSEMBL:ENSP00000356155", "ENSEMBL:ENSP00000356155.3", "ENSEMBL:ENSP00000507222", "ENSEMBL:ENSP00000507222.1", "UMLS:C1608572", "MESH:C502616"], "information_content": 92.8}
{"id": "NCBIGene:84919", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R15B", "equivalent_identifiers": ["NCBIGene:84919", "ENSEMBL:ENSG00000158615", "HGNC:14951", "OMIM:613257", "UMLS:C1423081", "UniProtKB:A0A8I5KSH1", "ENSEMBL:ENSP00000508814", "ENSEMBL:ENSP00000508814.1", "UniProtKB:Q5SWA1", "PR:Q5SWA1", "ENSEMBL:ENSP00000356156", "ENSEMBL:ENSP00000356156.4"], "information_content": 89.4}
{"id": "NCBIGene:3814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KISS1", "equivalent_identifiers": ["NCBIGene:3814", "ENSEMBL:ENSG00000170498", "HGNC:6341", "OMIM:603286", "UMLS:C1334307", "UniProtKB:Q15726", "PR:Q15726", "ENSEMBL:ENSP00000356162", "ENSEMBL:ENSP00000356162.4", "UMLS:C0540309", "UMLS:C5441937", "MESH:C106628"], "information_content": 100.0}
{"id": "MONDO:0001786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "uterine inflammatory disease", "equivalent_identifiers": ["MONDO:0001786", "DOID:13736", "EFO:0009572", "UMLS:C0269047", "MEDDRA:10045963", "SNOMEDCT:28783002", "medgen:541692", "ICD10:N71.9", "ICD9:615.9"], "information_content": 89.4}
{"id": "UniProtKB:Q9NVF9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ethanolamine kinase 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVF9-2", "PR:Q9NVF9-2", "ENSEMBL:ENSP00000356169", "ENSEMBL:ENSP00000356169.3"], "information_content": 100.0}
{"id": "NCBIGene:9580", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOX13", "equivalent_identifiers": ["NCBIGene:9580", "ENSEMBL:ENSG00000143842", "HGNC:11192", "OMIM:604748", "UMLS:C1420319", "UniProtKB:Q9UN79", "PR:Q9UN79", "ENSEMBL:ENSP00000356172", "ENSEMBL:ENSP00000356172.1", "ENSEMBL:ENSP00000478239", "ENSEMBL:ENSP00000478239.1", "UMLS:C1453842", "MESH:C491720"], "information_content": 95.4}
{"id": "NCBIGene:26254", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OPTC", "equivalent_identifiers": ["NCBIGene:26254", "ENSEMBL:ENSG00000188770", "HGNC:8158", "OMIM:605127", "UMLS:C1417967", "UniProtKB:Q9UBM4", "PR:Q9UBM4", "ENSEMBL:ENSP00000356191", "ENSEMBL:ENSP00000356191.2", "ENSEMBL:ENSP00000520429", "ENSEMBL:ENSP00000520429.1", "UMLS:C1438748", "MESH:C404108"], "information_content": 92.8}
{"id": "UniProtKB:Q13231-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chitotriosidase-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13231-1", "PR:Q13231-1", "ENSEMBL:ENSP00000356198", "ENSEMBL:ENSP00000356198.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGC7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptide chain release factor 1-like, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGC7-1", "PR:Q9UGC7-1", "ENSEMBL:ENSP00000356202", "ENSEMBL:ENSP00000356202.5"], "information_content": 100.0}
{"id": "UniProtKB:P30542-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenosine receptor A1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P30542-1", "PR:P30542-1", "ENSEMBL:ENSP00000308549", "ENSEMBL:ENSP00000308549.3", "ENSEMBL:ENSP00000338435", "ENSEMBL:ENSP00000338435.4", "ENSEMBL:ENSP00000356205", "ENSEMBL:ENSP00000356205.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 183A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXX5-1", "PR:Q8IXX5-1", "ENSEMBL:ENSP00000356211", "ENSEMBL:ENSP00000356211.3"], "information_content": 100.0}
{"id": "UniProtKB:P01282-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "VIP peptides isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P01282-1", "PR:P01282-1", "ENSEMBL:ENSP00000356213", "ENSEMBL:ENSP00000356213.3"], "information_content": 100.0}
{"id": "NCBIGene:80177", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYCT1", "equivalent_identifiers": ["NCBIGene:80177", "ENSEMBL:ENSG00000120279", "HGNC:23172", "OMIM:616805", "UMLS:C1427964", "UniProtKB:D6Q1S4", "UniProtKB:Q8N699", "PR:Q8N699", "ENSEMBL:ENSP00000356214", "ENSEMBL:ENSP00000356214.5", "UMLS:C1311444", "MESH:C477074"], "information_content": 100.0}
{"id": "NCBIGene:51706", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYB5R1", "equivalent_identifiers": ["NCBIGene:51706", "ENSEMBL:ENSG00000159348", "HGNC:13397", "OMIM:608341", "UMLS:C1824841", "UniProtKB:Q9UHQ9", "PR:Q9UHQ9", "ENSEMBL:ENSP00000356218", "ENSEMBL:ENSP00000356218.4", "UMLS:C4547572", "MESH:C000625630"], "information_content": 92.8}
{"id": "UniProtKB:Q8NF91-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nesprin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NF91-1", "PR:Q8NF91-1", "ENSEMBL:ENSP00000356224", "ENSEMBL:ENSP00000356224.5"], "information_content": 100.0}
{"id": "UniProtKB:Q53G59-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 12 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q53G59-1", "PR:Q53G59-1", "ENSEMBL:ENSP00000356230", "ENSEMBL:ENSP00000356230.3"], "information_content": 100.0}
{"id": "NCBIGene:5877", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RABIF", "equivalent_identifiers": ["NCBIGene:5877", "ENSEMBL:ENSG00000183155", "HGNC:9797", "OMIM:603417", "UMLS:C1419224", "UniProtKB:P47224", "PR:P47224", "ENSEMBL:ENSP00000356231", "ENSEMBL:ENSP00000356231.3", "UMLS:C1454283", "MESH:C489794", "UniProtKB:Q53EV1"], "information_content": 90.9}
{"id": "UniProtKB:Q9UGL1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase 5B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGL1-2", "PR:Q9UGL1-2", "ENSEMBL:ENSP00000356233", "ENSEMBL:ENSP00000356233.2"], "information_content": 100.0}
{"id": "NCBIGene:127833", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYT2", "equivalent_identifiers": ["NCBIGene:127833", "ENSEMBL:ENSG00000143858", "HGNC:11510", "OMIM:600104", "UMLS:C1420557", "UniProtKB:Q8N9I0", "PR:Q8N9I0", "ENSEMBL:ENSP00000356236", "ENSEMBL:ENSP00000356236.1", "ENSEMBL:ENSP00000356237", "ENSEMBL:ENSP00000356237.4", "UMLS:C1530320", "MESH:C494262"], "information_content": 100.0}
{"id": "UniProtKB:Q9HBX8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing G-protein coupled receptor 6 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBX8-3", "PR:Q9HBX8-3", "ENSEMBL:ENSP00000356247", "ENSEMBL:ENSP00000356247.3"], "information_content": 100.0}
{"id": "NCBIGene:9283", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR37L1", "equivalent_identifiers": ["NCBIGene:9283", "ENSEMBL:ENSG00000170075", "HGNC:14923", "OMIM:617630", "UMLS:C1423057", "UniProtKB:O60883", "PR:O60883", "ENSEMBL:ENSP00000356251", "ENSEMBL:ENSP00000356251.4", "UMLS:C0673408", "MESH:C111572"], "information_content": 85.5}
{"id": "NCBIGene:10440", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMM17A", "equivalent_identifiers": ["NCBIGene:10440", "ENSEMBL:ENSG00000134375", "HGNC:17315", "OMIM:605057", "UMLS:C1424895", "UniProtKB:Q99595", "PR:Q99595", "ENSEMBL:ENSP00000356256", "ENSEMBL:ENSP00000356256.4", "UMLS:C2607599", "MESH:C534731"], "information_content": 92.8}
{"id": "UniProtKB:P29536-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leiomodin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P29536-1", "PR:P29536-1", "ENSEMBL:ENSP00000356257", "ENSEMBL:ENSP00000356257.4"], "information_content": 100.0}
{"id": "MONDO:0001965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Sclerokeratitis", "equivalent_identifiers": ["MONDO:0001965", "DOID:14444", "UMLS:C0155090", "MEDDRA:10023339", "MEDDRA:10039718", "MEDDRA:10064846", "SNOMEDCT:27886001", "SNOMEDCT:417290008", "medgen:509781", "icd11.foundation:219361296", "ICD10:H16.33", "ICD9:370.54"], "information_content": 100.0}
{"id": "NCBIGene:79624", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCPH1", "equivalent_identifiers": ["NCBIGene:79624", "ENSEMBL:ENSG00000146476", "HGNC:17872", "OMIM:616332", "UMLS:C1425146", "UniProtKB:B4DPT6", "UniProtKB:F5GZY1", "ENSEMBL:ENSP00000444121", "ENSEMBL:ENSP00000444121.1", "UniProtKB:Q9H993", "PR:Q9H993", "ENSEMBL:ENSP00000356263", "ENSEMBL:ENSP00000356263.3"], "information_content": 92.8}
{"id": "UniProtKB:Q8NEY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuron navigator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEY1-1", "PR:Q8NEY1-1", "ENSEMBL:ENSP00000356265", "ENSEMBL:ENSP00000356265.4"], "information_content": 100.0}
{"id": "NCBIGene:1465", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSRP1", "equivalent_identifiers": ["NCBIGene:1465", "ENSEMBL:ENSG00000159176", "HGNC:2469", "OMIM:123876", "UMLS:C1413766", "UniProtKB:A0A384P5K2", "UMLS:C3181469", "MESH:C558428", "UniProtKB:B4DY28", "UniProtKB:P21291", "PR:P21291", "ENSEMBL:ENSP00000345079", "ENSEMBL:ENSP00000345079.2", "ENSEMBL:ENSP00000356275", "ENSEMBL:ENSP00000356275.1", "ENSEMBL:ENSP00000434147", "ENSEMBL:ENSP00000434147.1", "ENSEMBL:ENSP00000436792", "ENSEMBL:ENSP00000436792.1"], "information_content": 95.4}
{"id": "NCBIGene:23612", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHLDA3", "equivalent_identifiers": ["NCBIGene:23612", "ENSEMBL:ENSG00000174307", "HGNC:8934", "OMIM:607054", "UMLS:C1418541", "UniProtKB:Q9Y5J5", "PR:Q9Y5J5", "ENSEMBL:ENSP00000356278", "ENSEMBL:ENSP00000356278.1", "ENSEMBL:ENSP00000356280", "ENSEMBL:ENSP00000356280.3", "UMLS:C1741575"], "information_content": 100.0}
{"id": "NCBIGene:79465", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ULBP3", "equivalent_identifiers": ["NCBIGene:79465", "ENSEMBL:ENSG00000131019", "HGNC:14895", "OMIM:605699", "UMLS:C1423034", "UniProtKB:Q9BZM4", "PR:Q9BZM4", "ENSEMBL:ENSP00000356308", "ENSEMBL:ENSP00000356308.1", "ENSEMBL:ENSP00000403562", "ENSEMBL:ENSP00000403562.2", "UMLS:C1447925", "UMLS:C3540618", "MESH:C423229"], "information_content": 92.8}
{"id": "NCBIGene:154064", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAET1L", "equivalent_identifiers": ["NCBIGene:154064", "ENSEMBL:ENSG00000155918", "HGNC:16798", "OMIM:611047", "UMLS:C1424557", "UniProtKB:Q5VY80", "PR:Q5VY80", "ENSEMBL:ENSP00000286380", "ENSEMBL:ENSP00000286380.2", "ENSEMBL:ENSP00000356310", "ENSEMBL:ENSP00000356310.1", "UMLS:C2974556", "MESH:C552346"], "information_content": 100.0}
{"id": "NCBIGene:9928", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIF14", "equivalent_identifiers": ["NCBIGene:9928", "ENSEMBL:ENSG00000118193", "HGNC:19181", "OMIM:611279", "UMLS:C1426070", "UniProtKB:A0A384P5W4", "UniProtKB:Q15058", "PR:Q15058", "ENSEMBL:ENSP00000356319", "ENSEMBL:ENSP00000356319.4", "ENSEMBL:ENSP00000483069", "ENSEMBL:ENSP00000483069.1", "UMLS:C1609673", "MESH:C502598"], "information_content": 92.8}
{"id": "NCBIGene:80328", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ULBP2", "equivalent_identifiers": ["NCBIGene:80328", "ENSEMBL:ENSG00000131015", "HGNC:14894", "OMIM:605698", "UMLS:C1423033", "UniProtKB:Q9BZM5", "PR:Q9BZM5", "ENSEMBL:ENSP00000356320", "ENSEMBL:ENSP00000356320.3", "UMLS:C1447926", "UMLS:C3540617", "MESH:C423230"], "information_content": 92.8}
{"id": "UniProtKB:Q6H3X3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UL-16 binding protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6H3X3-1", "PR:Q6H3X3-1", "ENSEMBL:ENSP00000356329", "ENSEMBL:ENSP00000356329.2"], "information_content": 100.0}
{"id": "UniProtKB:O00482-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor subfamily 5 group A member 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O00482-1", "PR:O00482-1", "ENSEMBL:ENSP00000356331", "ENSEMBL:ENSP00000356331.3"], "information_content": 100.0}
{"id": "DOID:1233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transvestism", "equivalent_identifiers": ["DOID:1233", "UMLS:C0040774", "MESH:D014190", "MEDDRA:10044458", "NCIT:C94359", "SNOMEDCT:472948001", "SNOMEDCT:472981000", "SNOMEDCT:472989003", "ICD10:F64.1", "ICD9:302.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Nek7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDX7-1", "PR:Q8TDX7-1", "ENSEMBL:ENSP00000356355", "ENSEMBL:ENSP00000356355.4", "ENSEMBL:ENSP00000444621", "ENSEMBL:ENSP00000444621.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ69-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM/homeobox protein Lhx9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ69-1", "PR:Q9NQ69-1", "ENSEMBL:ENSP00000356357", "ENSEMBL:ENSP00000356357.4"], "information_content": 100.0}
{"id": "NCBIGene:388722", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1orf53", "equivalent_identifiers": ["NCBIGene:388722", "ENSEMBL:ENSG00000203724", "HGNC:30003", "UMLS:C1823203", "UniProtKB:Q5VUE5", "PR:Q5VUE5", "ENSEMBL:ENSP00000356363", "ENSEMBL:ENSP00000356363.3"], "information_content": 100.0}
{"id": "MONDO:0850340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "supratentorial ependymoma", "equivalent_identifiers": ["MONDO:0850340", "DOID:0080890", "UMLS:C5670470", "NCIT:C186343", "medgen:1811811"], "information_content": 89.4}
{"id": "UniProtKB:P82279-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein crumbs homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P82279-1", "PR:P82279-1", "ENSEMBL:ENSP00000356370", "ENSEMBL:ENSP00000356370.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "abnormal spindle-like microcephaly-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZT6-1", "PR:Q8IZT6-1", "ENSEMBL:ENSP00000356379", "ENSEMBL:ENSP00000356379.4"], "information_content": 100.0}
{"id": "UniProtKB:O75449-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "katanin p60 ATPase-containing subunit A1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75449-1", "PR:O75449-1", "ENSEMBL:ENSP00000335106", "ENSEMBL:ENSP00000335106.5", "ENSEMBL:ENSP00000356381", "ENSEMBL:ENSP00000356381.2"], "information_content": 100.0}
{"id": "NCBIGene:2165", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "F13B", "equivalent_identifiers": ["NCBIGene:2165", "ENSEMBL:ENSG00000143278", "HGNC:3534", "OMIM:134580", "UMLS:C1414503", "UniProtKB:P05160", "PR:P05160", "ENSEMBL:ENSP00000356382", "ENSEMBL:ENSP00000356382.2", "ENSEMBL:ENSP00000517743", "ENSEMBL:ENSP00000517743.1"], "information_content": 85.5}
{"id": "UniProtKB:P36980-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complement factor H-related protein 2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P36980-1", "PR:P36980-1", "ENSEMBL:ENSP00000356385", "ENSEMBL:ENSP00000356385.4", "ENSEMBL:ENSP00000517754", "ENSEMBL:ENSP00000517754.1"], "information_content": 100.0}
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{"id": "NCBIGene:79577", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC73", "equivalent_identifiers": ["NCBIGene:79577", "ENSEMBL:ENSG00000134371", "HGNC:16783", "OMIM:607393", "UMLS:C1708291", "UniProtKB:Q6P1J9", "PR:Q6P1J9", "ENSEMBL:ENSP00000356405", "ENSEMBL:ENSP00000356405.4", "UMLS:C1122525", "UMLS:C1704982", "MESH:C454900"], "information_content": 92.8}
{"id": "UniProtKB:Q9NS18-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutaredoxin-2, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NS18-2", "PR:Q9NS18-2", "ENSEMBL:ENSP00000356410", "ENSEMBL:ENSP00000356410.3"], "information_content": 100.0}
{"id": "UniProtKB:P10155-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein RO60 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P10155-1", "PR:P10155-1", "ENSEMBL:ENSP00000356411", "ENSEMBL:ENSP00000356411.1", "ENSEMBL:ENSP00000356416", "ENSEMBL:ENSP00000356416.3", "ENSEMBL:ENSP00000383752", "ENSEMBL:ENSP00000383752.2"], "information_content": 100.0}
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{"id": "UniProtKB:Q76B58-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BMP/retinoic acid-inducible neural-specific protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q76B58-1", "PR:Q76B58-1", "ENSEMBL:ENSP00000356432", "ENSEMBL:ENSP00000356432.3"], "information_content": 100.0}
{"id": "NCBIGene:5321", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLA2G4A", "equivalent_identifiers": ["NCBIGene:5321", "ENSEMBL:ENSG00000116711", "HGNC:9035", "OMIM:600522", "UMLS:C1418620", "UniProtKB:B4DZI4", "UniProtKB:P47712", "PR:P47712", "ENSEMBL:ENSP00000356436", "ENSEMBL:ENSP00000356436.3", "UMLS:C0912034", "MESH:C516389"], "information_content": 78.3}
{"id": "NCBIGene:23328", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SASH1", "equivalent_identifiers": ["NCBIGene:23328", "ENSEMBL:ENSG00000111961", "HGNC:19182", "OMIM:607955", "UMLS:C1426071", "UniProtKB:O94885", "PR:O94885", "ENSEMBL:ENSP00000356437", "ENSEMBL:ENSP00000356437.3", "UMLS:C1258978", "MESH:C474743"], "information_content": 100.0}
{"id": "NCBIGene:5743", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTGS2", "equivalent_identifiers": ["NCBIGene:5743", "ENSEMBL:ENSG00000073756", "HGNC:9605", "OMIM:600262", "UMLS:C1367485", "UniProtKB:P35354", "PR:P35354", "ENSEMBL:ENSP00000356438", "ENSEMBL:ENSP00000356438.5", "ENSEMBL:ENSP00000506242", "ENSEMBL:ENSP00000506242.1", "UMLS:C1565860", "MESH:C496540"], "information_content": 84.8}
{"id": "NCBIGene:389432", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAMD5", "equivalent_identifiers": ["NCBIGene:389432", "ENSEMBL:ENSG00000203727", "HGNC:21180", "OMIM:620517", "UMLS:C1427392", "UniProtKB:Q5TGI4", "PR:Q5TGI4", "ENSEMBL:ENSP00000356444", "ENSEMBL:ENSP00000356444.1"], "information_content": 95.4}
{"id": "UniProtKB:P12270-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoprotein TPR isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P12270-1", "PR:P12270-1", "ENSEMBL:ENSP00000356448", "ENSEMBL:ENSP00000356448.3"], "information_content": 100.0}
{"id": "NCBIGene:10981", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB32", "equivalent_identifiers": ["NCBIGene:10981", "ENSEMBL:ENSG00000118508", "HGNC:9772", "OMIM:612906", "UMLS:C1419201", "UniProtKB:Q13637", "PR:Q13637", "ENSEMBL:ENSP00000356465", "ENSEMBL:ENSP00000356465.3"], "information_content": 92.8}
{"id": "NCBIGene:10625", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IVNS1ABP", "equivalent_identifiers": ["NCBIGene:10625", "ENSEMBL:ENSG00000116679", "HGNC:16951", "OMIM:609209", "UMLS:C1424660", "UniProtKB:Q9Y6Y0", "PR:Q9Y6Y0", "ENSEMBL:ENSP00000356468", "ENSEMBL:ENSP00000356468.3", "ENSEMBL:ENSP00000520813", "ENSEMBL:ENSP00000520813.1", "UMLS:C1308698", "MESH:C114207"], "information_content": 84.8}
{"id": "NCBIGene:54823", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SWT1", "equivalent_identifiers": ["NCBIGene:54823", "ENSEMBL:ENSG00000116668", "HGNC:16785", "OMIM:619513", "UMLS:C1424544", "UniProtKB:B3KXU9", "UniProtKB:Q5T5J6", "PR:Q5T5J6", "ENSEMBL:ENSP00000356470", "ENSEMBL:ENSP00000356470.4", "ENSEMBL:ENSP00000356471", "ENSEMBL:ENSP00000356471.3"], "information_content": 100.0}
{"id": "MONDO:0002729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhabdoid tumor of the kidney", "equivalent_identifiers": ["MONDO:0002729", "DOID:3674", "EFO:1000512", "UMLS:C0854917", "MEDDRA:10039019", "MEDDRA:10074121", "NCIT:C8715", "medgen:208930", "HP:0034402"], "information_content": 89.4}
{"id": "MONDO:0019004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephroblastoma", "equivalent_identifiers": ["MONDO:0019004", "DOID:2154", "DOID:5176", "orphanet:654", "UMLS:C0027708", "MEDDRA:10029145", "MEDDRA:10047985", "MEDDRA:10047986", "MEDDRA:10047987", "NCIT:C40407", "SNOMEDCT:25081006", "SNOMEDCT:302849000", "HP:0002667"], "information_content": 78.5}
{"id": "MONDO:0014015", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 56", "equivalent_identifiers": ["MONDO:0014015", "DOID:0110808", "OMIM:615030", "orphanet:320411", "UMLS:C3539507", "NCIT:C190870", "SNOMEDCT:783764008", "medgen:761343"], "information_content": 100.0}
{"id": "UniProtKB:Q99496-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RING2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99496-1", "PR:Q99496-1", "ENSEMBL:ENSP00000356480", "ENSEMBL:ENSP00000356480.3", "ENSEMBL:ENSP00000520426", "ENSEMBL:ENSP00000520426.1"], "information_content": 100.0}
{"id": "NCBIGene:116496", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NIBAN1", "equivalent_identifiers": ["NCBIGene:116496", "ENSEMBL:ENSG00000135842", "HGNC:16784", "OMIM:619294", "UMLS:C1825275", "UniProtKB:Q9BZQ8", "PR:Q9BZQ8", "ENSEMBL:ENSP00000356481", "ENSEMBL:ENSP00000356481.3", "UMLS:C1869681", "MESH:C516108"], "information_content": 86.3}
{"id": "UniProtKB:O95278-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "laforin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95278-1", "PR:O95278-1", "ENSEMBL:ENSP00000356489", "ENSEMBL:ENSP00000356489.3"], "information_content": 100.0}
{"id": "MONDO:0020820", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal arthrogryposis type 2B1", "equivalent_identifiers": ["MONDO:0020820", "DOID:0111600", "OMIM:601680", "UMLS:C5193014", "medgen:1676961"], "information_content": 100.0}
{"id": "MONDO:0008222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Andersen-Tawil syndrome", "equivalent_identifiers": ["MONDO:0008222", "DOID:0050434", "OMIM:170390", "orphanet:37553", "UMLS:C1563715", "MESH:D050030", "MEDDRA:10083859", "MEDDRA:10083896", "NCIT:C84559", "SNOMEDCT:422348008", "medgen:327586"], "information_content": 100.0}
{"id": "MONDO:0032750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, distal, type 2B2", "equivalent_identifiers": ["MONDO:0032750", "DOID:0111601", "OMIM:618435", "UMLS:C5193097", "medgen:1674500"], "information_content": 100.0}
{"id": "UniProtKB:P19878-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neutrophil cytosol factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P19878-1", "PR:P19878-1", "ENSEMBL:ENSP00000356505", "ENSEMBL:ENSP00000356505.4", "ENSEMBL:ENSP00000356506", "ENSEMBL:ENSP00000356506.1", "ENSEMBL:ENSP00000513258", "ENSEMBL:ENSP00000513258.1"], "information_content": 100.0}
{"id": "UniProtKB:P46939-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "utrophin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P46939-1", "PR:P46939-1", "ENSEMBL:ENSP00000356515", "ENSEMBL:ENSP00000356515.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZQ2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testicular spindle-associated protein SHCBP1L isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZQ2-3", "PR:Q9BZQ2-3", "ENSEMBL:ENSP00000356518", "ENSEMBL:ENSP00000356518.3"], "information_content": 100.0}
{"id": "UniProtKB:Q08211-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent RNA helicase A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08211-1", "PR:Q08211-1", "ENSEMBL:ENSP00000356520", "ENSEMBL:ENSP00000356520.3"], "information_content": 100.0}
{"id": "NCBIGene:6004", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RGS16", "equivalent_identifiers": ["NCBIGene:6004", "ENSEMBL:ENSG00000143333", "HGNC:9997", "OMIM:602514", "UMLS:C1419373", "UniProtKB:O15492", "PR:O15492", "ENSEMBL:ENSP00000356529", "ENSEMBL:ENSP00000356529.5", "UMLS:C1452234"], "information_content": 89.4}
{"id": "UniProtKB:Q05823-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-5A-dependent ribonuclease isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q05823-1", "PR:Q05823-1", "ENSEMBL:ENSP00000356530", "ENSEMBL:ENSP00000356530.3"], "information_content": 100.0}
{"id": "NCBIGene:8676", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STX11", "equivalent_identifiers": ["NCBIGene:8676", "ENSEMBL:ENSG00000135604", "HGNC:11429", "OMIM:605014", "UMLS:C1420494", "UniProtKB:O75558", "PR:O75558", "ENSEMBL:ENSP00000356540", "ENSEMBL:ENSP00000356540.4", "ENSEMBL:ENSP00000513678", "ENSEMBL:ENSP00000513678.1", "ENSEMBL:ENSP00000513679", "ENSEMBL:ENSP00000513679.1", "ENSEMBL:ENSP00000513680", "ENSEMBL:ENSP00000513680.1", "UMLS:C2716822", "MESH:C541732"], "information_content": 95.4}
{"id": "NCBIGene:83443", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SF3B5", "equivalent_identifiers": ["NCBIGene:83443", "ENSEMBL:ENSG00000169976", "HGNC:21083", "OMIM:617847", "UMLS:C1427304", "UniProtKB:Q9BWJ5", "PR:Q9BWJ5", "ENSEMBL:ENSP00000356541", "ENSEMBL:ENSP00000356541.2"], "information_content": 89.4}
{"id": "UniProtKB:Q15878-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent R-type calcium channel subunit alpha-1E isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15878-1", "PR:Q15878-1", "ENSEMBL:ENSP00000356545", "ENSEMBL:ENSP00000356545.2"], "information_content": 100.0}
{"id": "NCBIGene:84946", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LTV1", "equivalent_identifiers": ["NCBIGene:84946", "ENSEMBL:ENSG00000135521", "HGNC:21173", "OMIM:620074", "UMLS:C1825917", "UniProtKB:Q96GA3", "PR:Q96GA3", "ENSEMBL:ENSP00000356548", "ENSEMBL:ENSP00000356548.5", "UMLS:C5772145", "MESH:C000723695"], "information_content": 100.0}
{"id": "NCBIGene:51278", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IER5", "equivalent_identifiers": ["NCBIGene:51278", "ENSEMBL:ENSG00000162783", "HGNC:5393", "OMIM:607177", "UMLS:C1415885", "UniProtKB:Q5VY09", "PR:Q5VY09", "ENSEMBL:ENSP00000356549", "ENSEMBL:ENSP00000356549.4", "UMLS:C1309065", "MESH:C118926"], "information_content": 92.8}
{"id": "UniProtKB:Q5VZ46-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein KIAA1614 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VZ46-1", "PR:Q5VZ46-1", "ENSEMBL:ENSP00000356560", "ENSEMBL:ENSP00000356560.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBH6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 53 member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBH6-1", "PR:Q9UBH6-1", "ENSEMBL:ENSP00000356562", "ENSEMBL:ENSP00000356562.4"], "information_content": 100.0}
{"id": "NCBIGene:8504", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PEX3", "equivalent_identifiers": ["NCBIGene:8504", "ENSEMBL:ENSG00000034693", "HGNC:8858", "OMIM:603164", "UMLS:C1418477", "UniProtKB:P56589", "PR:P56589", "ENSEMBL:ENSP00000356563", "ENSEMBL:ENSP00000356563.4"], "information_content": 100.0}
{"id": "UniProtKB:O00391-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sulfhydryl oxidase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00391-1", "PR:O00391-1", "ENSEMBL:ENSP00000356574", "ENSEMBL:ENSP00000356574.3"], "information_content": 100.0}
{"id": "NCBIGene:3097", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HIVEP2", "equivalent_identifiers": ["NCBIGene:3097", "ENSEMBL:ENSG00000010818", "HGNC:4921", "OMIM:143054", "UMLS:C1415553", "UniProtKB:P31629", "PR:P31629", "ENSEMBL:ENSP00000012134", "ENSEMBL:ENSP00000012134.2", "ENSEMBL:ENSP00000356575", "ENSEMBL:ENSP00000356575.2", "ENSEMBL:ENSP00000356576", "ENSEMBL:ENSP00000356576.1", "ENSEMBL:ENSP00000515552", "ENSEMBL:ENSP00000515552.1", "UMLS:C1429774", "MESH:C077171"], "information_content": 86.3}
{"id": "NCBIGene:9857", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEP350", "equivalent_identifiers": ["NCBIGene:9857", "ENSEMBL:ENSG00000135837", "HGNC:24238", "OMIM:617870", "UMLS:C1824726", "UniProtKB:Q5T2X4", "ENSEMBL:ENSP00000401608", "ENSEMBL:ENSP00000401608.2", "UniProtKB:Q5VT06", "PR:Q5VT06", "ENSEMBL:ENSP00000356579", "ENSEMBL:ENSP00000356579.3", "UMLS:C1701727", "MESH:C509238"], "information_content": 87.2}
{"id": "MONDO:0002297", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermal appendage tumor", "equivalent_identifiers": ["MONDO:0002297", "DOID:2433", "UMLS:C0334342", "UMLS:C0345988", "MEDDRA:10045153", "NCIT:C4463", "NCIT:C7580", "SNOMEDCT:126489007", "SNOMEDCT:55681005", "medgen:87527", "HP:0012842"], "information_content": 65.9}
{"id": "UniProtKB:Q86SQ4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G-protein coupled receptor G6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q86SQ4-3", "PR:Q86SQ4-3", "ENSEMBL:ENSP00000356581", "ENSEMBL:ENSP00000356581.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFQ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "torsin-1A-interacting protein 2 isoform TOR1AIP2 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFQ8-1", "PR:Q8NFQ8-1", "ENSEMBL:ENSP00000356584", "ENSEMBL:ENSP00000356584.3", "ENSEMBL:ENSP00000477486", "ENSEMBL:ENSP00000477486.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9NP85-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "podocin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP85-1", "PR:Q9NP85-1", "ENSEMBL:ENSP00000356587", "ENSEMBL:ENSP00000356587.4"], "information_content": 100.0}
{"id": "MONDO:0030700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune glomerulonephritis", "equivalent_identifiers": ["MONDO:0030700", "DOID:0040094", "UMLS:C3278903", "medgen:480533"], "information_content": 100.0}
{"id": "UniProtKB:Q5T1B0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "axonemal dynein light chain domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T1B0-1", "PR:Q5T1B0-1", "ENSEMBL:ENSP00000356590", "ENSEMBL:ENSP00000356590.3"], "information_content": 100.0}
{"id": "UniProtKB:P35610-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sterol O-acyltransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35610-1", "PR:P35610-1", "ENSEMBL:ENSP00000356591", "ENSEMBL:ENSP00000356591.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H497-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "torsin-3A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H497-1", "PR:Q9H497-1", "ENSEMBL:ENSP00000356599", "ENSEMBL:ENSP00000356599.3"], "information_content": 100.0}
{"id": "MONDO:0001098", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "separation anxiety disorder", "equivalent_identifiers": ["MONDO:0001098", "DOID:10685", "EFO:1001916", "UMLS:C0003477", "UMLS:C1527281", "MESH:D001010", "MEDDRA:10040045", "NCIT:C35014", "SNOMEDCT:11806006", "SNOMEDCT:126943008", "medgen:1999", "icd11.foundation:830200631"], "information_content": 100.0}
{"id": "UniProtKB:Q9NP79-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein VTA1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP79-1", "PR:Q9NP79-1", "ENSEMBL:ENSP00000356602", "ENSEMBL:ENSP00000356602.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJF2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras GTPase-activating protein nGAP isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJF2-2", "PR:Q9UJF2-2", "ENSEMBL:ENSP00000356621", "ENSEMBL:ENSP00000356621.3"], "information_content": 100.0}
{"id": "NCBIGene:51696", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HECA", "equivalent_identifiers": ["NCBIGene:51696", "ENSEMBL:ENSG00000112406", "HGNC:21041", "OMIM:607977", "UMLS:C1427267", "UniProtKB:Q9UBI9", "PR:Q9UBI9", "ENSEMBL:ENSP00000356630", "ENSEMBL:ENSP00000356630.2", "UMLS:C1100973", "MESH:C445125"], "information_content": 95.4}
{"id": "MONDO:0006571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lichen nitidus", "equivalent_identifiers": ["MONDO:0006571", "DOID:8573", "EFO:1000725", "UMLS:C0162849", "MESH:D017513", "MEDDRA:10024428", "SNOMEDCT:41890004", "medgen:58196", "icd11.foundation:525392264", "ICD10:L44.1", "ICD9:697.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXP8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pappalysin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXP8-1", "PR:Q9BXP8-1", "ENSEMBL:ENSP00000356634", "ENSEMBL:ENSP00000356634.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHY2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase COP1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHY2-1", "PR:Q8NHY2-1", "ENSEMBL:ENSP00000356641", "ENSEMBL:ENSP00000356641.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9HB71-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcyclin-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HB71-1", "PR:Q9HB71-1", "ENSEMBL:ENSP00000356652", "ENSEMBL:ENSP00000356652.2"], "information_content": 100.0}
{"id": "NCBIGene:9293", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR52", "equivalent_identifiers": ["NCBIGene:9293", "ENSEMBL:ENSG00000203737", "HGNC:4508", "OMIM:604106", "UMLS:C1415243", "UniProtKB:F2YGU0", "UMLS:C4508506", "MESH:C000621576", "UniProtKB:Q9Y2T5", "PR:Q9Y2T5", "ENSEMBL:ENSP00000356658", "ENSEMBL:ENSP00000356658.2"], "information_content": 95.4}
{"id": "UniProtKB:Q5TC82-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "roquin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TC82-1", "PR:Q5TC82-1", "ENSEMBL:ENSP00000356669", "ENSEMBL:ENSP00000356669.2"], "information_content": 100.0}
{"id": "NCBIGene:462", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINC1", "equivalent_identifiers": ["NCBIGene:462", "ENSEMBL:ENSG00000117601", "HGNC:775", "OMIM:107300", "UMLS:C1412610", "UniProtKB:P01008", "PR:P01008", "ENSEMBL:ENSP00000356671", "ENSEMBL:ENSP00000356671.3", "UMLS:C2717481", "MESH:C542513"], "information_content": 83.1}
{"id": "MONDO:0002192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvar angiokeratoma", "equivalent_identifiers": ["MONDO:0002192", "DOID:2066", "UMLS:C1274281", "MEDDRA:10047735", "NCIT:C8596", "SNOMEDCT:402841001", "medgen:266144"], "information_content": 100.0}
{"id": "NCBIGene:284525", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC9C2", "equivalent_identifiers": ["NCBIGene:284525", "ENSEMBL:ENSG00000162753", "HGNC:28664", "OMIM:620338", "UMLS:C3469727", "UniProtKB:B3KXW8", "UniProtKB:Q5TAH2", "PR:Q5TAH2", "ENSEMBL:ENSP00000356687", "ENSEMBL:ENSP00000356687.3"], "information_content": 95.4}
{"id": "MONDO:0014572", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lichtenstein-Knorr syndrome", "equivalent_identifiers": ["MONDO:0014572", "DOID:0080065", "OMIM:616291", "orphanet:448251", "UMLS:C4225383", "SNOMEDCT:1237413006", "medgen:898996"], "information_content": 100.0}
{"id": "UniProtKB:P48023-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor ligand superfamily member 6 isoform FasL (human)", "equivalent_identifiers": ["UniProtKB:P48023-1", "PR:P48023-1", "ENSEMBL:ENSP00000356694", "ENSEMBL:ENSP00000356694.2"], "information_content": 90.9}
{"id": "UniProtKB:Q9UBS9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SUN domain-containing ossification factor isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBS9-2", "PR:Q9UBS9-2", "ENSEMBL:ENSP00000356696", "ENSEMBL:ENSP00000356696.4"], "information_content": 100.0}
{"id": "NCBIGene:5279", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIGC", "equivalent_identifiers": ["NCBIGene:5279", "ENSEMBL:ENSG00000135845", "HGNC:8960", "OMIM:601730", "UMLS:C1418561", "UniProtKB:Q92535", "PR:Q92535", "ENSEMBL:ENSP00000356701", "ENSEMBL:ENSP00000356701.3", "ENSEMBL:ENSP00000356702", "ENSEMBL:ENSP00000356702.1", "UMLS:C1438311", "MESH:C101351"], "information_content": 95.4}
{"id": "NCBIGene:167826", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OLIG3", "equivalent_identifiers": ["NCBIGene:167826", "ENSEMBL:ENSG00000177468", "HGNC:18003", "OMIM:609323", "UMLS:C1425231", "UniProtKB:Q7RTU3", "PR:Q7RTU3", "ENSEMBL:ENSP00000356708", "ENSEMBL:ENSP00000356708.2"], "information_content": 100.0}
{"id": "UniProtKB:P15260-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon gamma receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P15260-1", "PR:P15260-1", "ENSEMBL:ENSP00000356713", "ENSEMBL:ENSP00000356713.5"], "information_content": 100.0}
{"id": "MONDO:0008856", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 27A", "equivalent_identifiers": ["MONDO:0008856", "DOID:0111955", "OMIM:209950", "UMLS:C4011949", "NCIT:C176806", "SNOMEDCT:718230004", "medgen:860386"], "information_content": 100.0}
{"id": "NCBIGene:2329", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FMO4", "equivalent_identifiers": ["NCBIGene:2329", "ENSEMBL:ENSG00000076258", "HGNC:3772", "OMIM:136131", "UMLS:C1414646", "UniProtKB:P31512", "PR:P31512", "ENSEMBL:ENSP00000356723", "ENSEMBL:ENSP00000356723.3"], "information_content": 100.0}
{"id": "NCBIGene:2328", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FMO3", "equivalent_identifiers": ["NCBIGene:2328", "ENSEMBL:ENSG00000007933", "HGNC:3771", "OMIM:136132", "UMLS:C1414645", "UniProtKB:A0A024R8Z4", "UniProtKB:B7Z3M2", "UniProtKB:B7Z543", "UniProtKB:P31513", "PR:P31513", "ENSEMBL:ENSP00000356729", "ENSEMBL:ENSP00000356729.4", "UMLS:C3888280", "UniProtKB:Q53FW5"], "information_content": 87.2}
{"id": "UniProtKB:Q5T7V8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RAB6-interacting golgin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T7V8-1", "PR:Q5T7V8-1", "ENSEMBL:ENSP00000356737", "ENSEMBL:ENSP00000356737.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZE3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-associating with the carboxyl-terminal domain of ezrin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZE3-1", "PR:Q8IZE3-1", "ENSEMBL:ENSP00000356744", "ENSEMBL:ENSP00000356744.1", "ENSEMBL:ENSP00000356746", "ENSEMBL:ENSP00000356746.4"], "information_content": 100.0}
{"id": "MONDO:0006641", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "afferent loop syndrome", "equivalent_identifiers": ["MONDO:0006641", "DOID:8438", "EFO:1000799", "UMLS:C0001727", "MESH:D000343", "MEDDRA:10056245", "SNOMEDCT:20813000", "medgen:161"], "information_content": 100.0}
{"id": "MONDO:0001818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "facial neuralgia", "equivalent_identifiers": ["MONDO:0001818", "DOID:13865", "EFO:0009380", "UMLS:C0015467", "MESH:D005156", "MEDDRA:10016057", "MEDDRA:10029225", "MEDDRA:10061594", "SNOMEDCT:4151000119102", "medgen:5099"], "information_content": 100.0}
{"id": "NCBIGene:2153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "F5", "equivalent_identifiers": ["NCBIGene:2153", "ENSEMBL:ENSG00000198734", "HGNC:3542", "OMIM:612309", "UMLS:C1414509", "UniProtKB:P12259", "PR:P12259", "ENSEMBL:ENSP00000356771", "ENSEMBL:ENSP00000356771.3", "UMLS:C1448834", "MESH:C089422"], "information_content": 75.0}
{"id": "UniProtKB:Q5TID7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 181 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TID7-1", "PR:Q5TID7-1", "ENSEMBL:ENSP00000356780", "ENSEMBL:ENSP00000356780.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2G9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "golgin-45 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2G9-1", "PR:Q9H2G9-1", "ENSEMBL:ENSP00000327541", "ENSEMBL:ENSP00000327541.2", "ENSEMBL:ENSP00000356782", "ENSEMBL:ENSP00000356782.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5B8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoside diphosphate kinase homolog 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5B8-1", "PR:Q9Y5B8-1", "ENSEMBL:ENSP00000356785", "ENSEMBL:ENSP00000356785.3"], "information_content": 100.0}
{"id": "UniProtKB:P05026-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/potassium-transporting ATPase subunit beta-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P05026-1", "PR:P05026-1", "ENSEMBL:ENSP00000356789", "ENSEMBL:ENSP00000356789.3", "ENSEMBL:ENSP00000356790", "ENSEMBL:ENSP00000356790.1", "ENSEMBL:ENSP00000509039", "ENSEMBL:ENSP00000509039.1", "ENSEMBL:ENSP00000509517", "ENSEMBL:ENSP00000509517.1"], "information_content": 100.0}
{"id": "NCBIGene:1805", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPT", "equivalent_identifiers": ["NCBIGene:1805", "ENSEMBL:ENSG00000143196", "HGNC:3011", "OMIM:125597", "UMLS:C1414143", "UniProtKB:Q07507", "PR:Q07507", "ENSEMBL:ENSP00000356791", "ENSEMBL:ENSP00000356791.3", "UMLS:C1429868", "MESH:C082019"], "information_content": 100.0}
{"id": "NCBIGene:6375", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XCL1", "equivalent_identifiers": ["NCBIGene:6375", "ENSEMBL:ENSG00000143184", "HGNC:10645", "OMIM:600250", "UMLS:C1363878", "UniProtKB:P47992", "PR:P47992", "ENSEMBL:ENSP00000356792", "ENSEMBL:ENSP00000356792.3", "UMLS:C1384612", "MESH:C092390"], "information_content": 95.4}
{"id": "NCBIGene:6846", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XCL2", "equivalent_identifiers": ["NCBIGene:6846", "ENSEMBL:ENSG00000143185", "HGNC:10646", "OMIM:604828", "UMLS:C1337028", "UniProtKB:Q9UBD3", "PR:Q9UBD3", "ENSEMBL:ENSP00000356793", "ENSEMBL:ENSP00000356793.2", "UMLS:C1332831", "MESH:C490470"], "information_content": 95.4}
{"id": "NCBIGene:9095", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBX19", "equivalent_identifiers": ["NCBIGene:9095", "ENSEMBL:ENSG00000143178", "HGNC:11596", "OMIM:604614", "UMLS:C1420607", "UniProtKB:B3KRD9", "UniProtKB:O60806", "PR:O60806", "ENSEMBL:ENSP00000356795", "ENSEMBL:ENSP00000356795.3", "UMLS:C1431692", "MESH:C486589"], "information_content": 100.0}
{"id": "MONDO:0002109", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pituitary cancer", "equivalent_identifiers": ["MONDO:0002109", "DOID:1785", "EFO:0005578", "UMLS:C0496842", "MEDDRA:10026671", "MEDDRA:10026672", "MEDDRA:10035101", "MEDDRA:10035106", "MEDDRA:10073833", "NCIT:C4769", "SNOMEDCT:363482009", "medgen:96922", "ICD10:C75.1"], "information_content": 82.6}
{"id": "MONDO:0005565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blastoma", "equivalent_identifiers": ["MONDO:0005565", "DOID:0070003", "DOID:4766", "EFO:0005785", "UMLS:C0936282", "MEDDRA:10087341", "NCIT:C8997", "medgen:181704"], "information_content": 83.1}
{"id": "UniProtKB:O75663-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TIP41-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75663-1", "PR:O75663-1", "ENSEMBL:ENSP00000356807", "ENSEMBL:ENSP00000356807.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y450-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HBS1-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y450-1", "PR:Q9Y450-1", "ENSEMBL:ENSP00000356811", "ENSEMBL:ENSP00000356811.5"], "information_content": 100.0}
{"id": "UniProtKB:Q58WW2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DDB1- and CUL4-associated factor 6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q58WW2-3", "PR:Q58WW2-3", "ENSEMBL:ENSP00000356814", "ENSEMBL:ENSP00000356814.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96PN6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenylate cyclase type 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PN6-1", "PR:Q96PN6-1", "ENSEMBL:ENSP00000356825", "ENSEMBL:ENSP00000356825.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6JBY9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CapZ-interacting protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6JBY9-1", "PR:Q6JBY9-1", "ENSEMBL:ENSP00000356828", "ENSEMBL:ENSP00000356828.3"], "information_content": 100.0}
{"id": "UniProtKB:O00141-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Sgk1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O00141-2", "PR:O00141-2", "ENSEMBL:ENSP00000356832", "ENSEMBL:ENSP00000356832.5"], "information_content": 100.0}
{"id": "UniProtKB:P14859-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POU domain, class 2, transcription factor 1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:P14859-6", "PR:P14859-6", "ENSEMBL:ENSP00000356840", "ENSEMBL:ENSP00000356840.2"], "information_content": 100.0}
{"id": "NCBIGene:10223", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPA33", "equivalent_identifiers": ["NCBIGene:10223", "ENSEMBL:ENSG00000143167", "HGNC:4445", "OMIM:602171", "UMLS:C1364020", "UniProtKB:Q99795", "PR:Q99795", "ENSEMBL:ENSP00000356842", "ENSEMBL:ENSP00000356842.3", "UMLS:C1333827", "MESH:C104258"], "information_content": 90.9}
{"id": "UniProtKB:Q96JY0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein maelstrom homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JY0-1", "PR:Q96JY0-1", "ENSEMBL:ENSP00000356846", "ENSEMBL:ENSP00000356846.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZX2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uridine-cytidine kinase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZX2-1", "PR:Q9BZX2-1", "ENSEMBL:ENSP00000356853", "ENSEMBL:ENSP00000356853.4"], "information_content": 100.0}
{"id": "NCBIGene:6943", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCF21", "equivalent_identifiers": ["NCBIGene:6943", "ENSEMBL:ENSG00000118526", "HGNC:11632", "OMIM:603306", "UMLS:C1420638", "UniProtKB:O43680", "PR:O43680", "ENSEMBL:ENSP00000237316", "ENSEMBL:ENSP00000237316.3", "ENSEMBL:ENSP00000356857", "ENSEMBL:ENSP00000356857.5", "UMLS:C1454475", "MESH:C491825"], "information_content": 95.4}
{"id": "NCBIGene:4259", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MGST3", "equivalent_identifiers": ["NCBIGene:4259", "ENSEMBL:ENSG00000143198", "HGNC:7064", "OMIM:604564", "UMLS:C1417147", "UniProtKB:O14880", "PR:O14880", "ENSEMBL:ENSP00000356859", "ENSEMBL:ENSP00000356859.1", "ENSEMBL:ENSP00000356864", "ENSEMBL:ENSP00000356864.3", "UniProtKB:Q5VV89", "ENSEMBL:ENSP00000356858", "ENSEMBL:ENSP00000356858.1", "ENSEMBL:ENSP00000356860", "ENSEMBL:ENSP00000356860.1", "ENSEMBL:ENSP00000487151", "ENSEMBL:ENSP00000487151.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86UF4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 190 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UF4-1", "PR:Q86UF4-1", "ENSEMBL:ENSP00000356886", "ENSEMBL:ENSP00000356886.1", "ENSEMBL:ENSP00000356887", "ENSEMBL:ENSP00000356887.3"], "information_content": 100.0}
{"id": "NCBIGene:4921", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDR2", "equivalent_identifiers": ["NCBIGene:4921", "ENSEMBL:ENSG00000162733", "HGNC:2731", "OMIM:191311", "UMLS:C1333207", "UniProtKB:Q16832", "PR:Q16832", "ENSEMBL:ENSP00000356898", "ENSEMBL:ENSP00000356898.3", "ENSEMBL:ENSP00000356899", "ENSEMBL:ENSP00000356899.2", "ENSEMBL:ENSP00000400309", "ENSEMBL:ENSP00000400309.2", "UMLS:C3853571", "UMLS:C4308284", "MESH:C000603239"], "information_content": 95.4}
{"id": "NCBIGene:8876", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VNN1", "equivalent_identifiers": ["NCBIGene:8876", "ENSEMBL:ENSG00000112299", "HGNC:12705", "OMIM:603570", "UMLS:C1421459", "UniProtKB:O95497", "PR:O95497", "ENSEMBL:ENSP00000356905", "ENSEMBL:ENSP00000356905.4", "UMLS:C1308808"], "information_content": 100.0}
{"id": "UniProtKB:O14796-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH2 domain-containing protein 1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14796-1", "PR:O14796-1", "ENSEMBL:ENSP00000356906", "ENSEMBL:ENSP00000356906.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9P1P5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trace amine-associated receptor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P1P5-1", "PR:Q9P1P5-1", "ENSEMBL:ENSP00000356908", "ENSEMBL:ENSP00000356908.1"], "information_content": 100.0}
{"id": "NCBIGene:284680", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA46", "equivalent_identifiers": ["NCBIGene:284680", "ENSEMBL:ENSG00000171722", "HGNC:27648", "OMIM:617257", "UMLS:C4310615", "UniProtKB:Q5T0L3", "PR:Q5T0L3", "ENSEMBL:ENSP00000356912", "ENSEMBL:ENSP00000356912.4"], "information_content": 100.0}
{"id": "NCBIGene:25903", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OLFML2B", "equivalent_identifiers": ["NCBIGene:25903", "ENSEMBL:ENSG00000162745", "HGNC:24558", "UMLS:C1538535", "UniProtKB:B4DWE8", "UniProtKB:F2Z3N3", "ENSEMBL:ENSP00000356917", "ENSEMBL:ENSP00000356917.2", "UniProtKB:Q68BL8", "PR:Q68BL8"]}
{"id": "UniProtKB:O15400-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15400-1", "PR:O15400-1", "ENSEMBL:ENSP00000356918", "ENSEMBL:ENSP00000356918.1"], "information_content": 100.0}
{"id": "NCBIGene:22926", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATF6", "equivalent_identifiers": ["NCBIGene:22926", "ENSEMBL:ENSG00000118217", "HGNC:791", "OMIM:605537", "UMLS:C1412622", "UniProtKB:A0A7P0TAF2", "ENSEMBL:ENSP00000506149", "ENSEMBL:ENSP00000506149.1", "UniProtKB:A0A7P0Z421", "ENSEMBL:ENSP00000504865", "ENSEMBL:ENSP00000504865.1", "UniProtKB:A8K383", "UniProtKB:P18850", "PR:P18850", "ENSEMBL:ENSP00000356919", "ENSEMBL:ENSP00000356919.3", "ENSEMBL:ENSP00000505025", "ENSEMBL:ENSP00000505025.1", "ENSEMBL:ENSP00000505998", "ENSEMBL:ENSP00000505998.1", "UMLS:C0665313", "MESH:C497111"], "information_content": 86.3}
{"id": "NCBIGene:11266", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUSP12", "equivalent_identifiers": ["NCBIGene:11266", "ENSEMBL:ENSG00000081721", "HGNC:3067", "OMIM:604835", "UMLS:C1414183", "UniProtKB:Q9UNI6", "PR:Q9UNI6", "ENSEMBL:ENSP00000356920", "ENSEMBL:ENSP00000356920.4", "UMLS:C1453069"], "information_content": 100.0}
{"id": "UniProtKB:Q7L513-10", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fc receptor-like A isoform h10 (human)", "equivalent_identifiers": ["UniProtKB:Q7L513-10", "PR:Q7L513-10", "ENSEMBL:ENSP00000356936", "ENSEMBL:ENSP00000356936.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6UVY6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DBH-like monooxygenase protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UVY6-1", "PR:Q6UVY6-1", "ENSEMBL:ENSP00000356940", "ENSEMBL:ENSP00000356940.3"], "information_content": 100.0}
{"id": "NCBIGene:257177", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP126", "equivalent_identifiers": ["NCBIGene:257177", "ENSEMBL:ENSG00000188931", "HGNC:32325", "OMIM:616119", "UMLS:C1823806", "UniProtKB:Q5VTH2", "PR:Q5VTH2", "ENSEMBL:ENSP00000356951", "ENSEMBL:ENSP00000356951.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99643-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99643-1", "PR:Q99643-1", "ENSEMBL:ENSP00000356953", "ENSEMBL:ENSP00000356953.3"], "information_content": 100.0}
{"id": "UniProtKB:P29279-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCN family member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P29279-1", "PR:P29279-1", "ENSEMBL:ENSP00000356954", "ENSEMBL:ENSP00000356954.3"], "information_content": 100.0}
{"id": "UniProtKB:Q14994-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor subfamily 1 group I member 3 isoform h8 (human)", "equivalent_identifiers": ["UniProtKB:Q14994-8", "PR:Q14994-8", "ENSEMBL:ENSP00000356958", "ENSEMBL:ENSP00000356958.2", "ENSEMBL:ENSP00000356959", "ENSEMBL:ENSP00000356959.2"], "information_content": 100.0}
{"id": "UniProtKB:Q969M1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial import receptor subunit TOM40B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969M1-1", "PR:Q969M1-1", "ENSEMBL:ENSP00000356966", "ENSEMBL:ENSP00000356966.1", "ENSEMBL:ENSP00000356967", "ENSEMBL:ENSP00000356967.3"], "information_content": 100.0}
{"id": "MONDO:0014983", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 21", "equivalent_identifiers": ["MONDO:0014983", "DOID:0110672", "OMIM:617239", "UMLS:C4310654", "medgen:934621"], "information_content": 100.0}
{"id": "NCBIGene:336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOA2", "equivalent_identifiers": ["NCBIGene:336", "ENSEMBL:ENSG00000158874", "HGNC:601", "OMIM:107670", "UMLS:C1412469", "UniProtKB:P02652", "PR:P02652", "ENSEMBL:ENSP00000356969", "ENSEMBL:ENSP00000356969.3", "ENSEMBL:ENSP00000476740", "ENSEMBL:ENSP00000476740.2", "UMLS:C1431573", "MESH:C115794"], "information_content": 87.2}
{"id": "UniProtKB:O75306-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75306-1", "PR:O75306-1", "ENSEMBL:ENSP00000356972", "ENSEMBL:ENSP00000356972.3", "ENSEMBL:ENSP00000503117", "ENSEMBL:ENSP00000503117.1", "ENSEMBL:ENSP00000503989", "ENSEMBL:ENSP00000503989.1", "ENSEMBL:ENSP00000504199", "ENSEMBL:ENSP00000504199.1", "ENSEMBL:ENSP00000504846", "ENSEMBL:ENSP00000504846.1"], "information_content": 100.0}
{"id": "UniProtKB:O75173-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "a disintegrin and metalloproteinase with thrombospondin motifs 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75173-1", "PR:O75173-1", "ENSEMBL:ENSP00000356975", "ENSEMBL:ENSP00000356975.4"], "information_content": 100.0}
{"id": "NCBIGene:5498", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPOX", "equivalent_identifiers": ["NCBIGene:5498", "ENSEMBL:ENSG00000143224", "HGNC:9280", "OMIM:600923", "UMLS:C1418819", "UniProtKB:B4DY76", "UMLS:C1529979", "MESH:C493978", "UniProtKB:P50336", "PR:P50336", "ENSEMBL:ENSP00000343943", "ENSEMBL:ENSP00000343943.5", "ENSEMBL:ENSP00000356978", "ENSEMBL:ENSP00000356978.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9UK80-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 21 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UK80-1", "PR:Q9UK80-1", "ENSEMBL:ENSP00000289865", "ENSEMBL:ENSP00000289865.8", "ENSEMBL:ENSP00000356981", "ENSEMBL:ENSP00000356981.3"], "information_content": 100.0}
{"id": "NCBIGene:51506", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UFC1", "equivalent_identifiers": ["NCBIGene:51506", "ENSEMBL:ENSG00000143222", "HGNC:26941", "OMIM:610554", "UMLS:C1823590", "UniProtKB:Q9Y3C8", "PR:Q9Y3C8", "ENSEMBL:ENSP00000356982", "ENSEMBL:ENSP00000356982.5", "UMLS:C1570998", "MESH:C502096"], "information_content": 95.4}
{"id": "NCBIGene:9191", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEDD", "equivalent_identifiers": ["NCBIGene:9191", "ENSEMBL:ENSG00000158796", "HGNC:2755", "OMIM:606841", "UMLS:C1413971", "UniProtKB:B1AQP5", "ENSEMBL:ENSP00000356984", "ENSEMBL:ENSP00000356984.1", "UMLS:C0760885", "MESH:C116096", "UniProtKB:O75618", "PR:O75618"]}
{"id": "UniProtKB:Q86X76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deaminated glutathione amidase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86X76-1", "PR:Q86X76-1", "ENSEMBL:ENSP00000356988", "ENSEMBL:ENSP00000356988.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96NY8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nectin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NY8-1", "PR:Q96NY8-1", "ENSEMBL:ENSP00000356991", "ENSEMBL:ENSP00000356991.3"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6I6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 30 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6I6-1", "PR:Q7Z6I6-1", "ENSEMBL:ENSP00000356992", "ENSEMBL:ENSP00000356992.3"], "information_content": 100.0}
{"id": "UniProtKB:P22415-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "upstream stimulatory factor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P22415-1", "PR:P22415-1", "ENSEMBL:ENSP00000356999", "ENSEMBL:ENSP00000356999.1", "ENSEMBL:ENSP00000357000", "ENSEMBL:ENSP00000357000.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y624-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "junctional adhesion molecule A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y624-1", "PR:Q9Y624-1", "ENSEMBL:ENSP00000357005", "ENSEMBL:ENSP00000357005.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWU7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intelectin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWU7-1", "PR:Q8WWU7-1", "ENSEMBL:ENSP00000357008", "ENSEMBL:ENSP00000357008.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "natural killer cell receptor 2B4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZW8-1", "PR:Q9BZW8-1", "ENSEMBL:ENSP00000357012", "ENSEMBL:ENSP00000357012.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ25-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SLAM family member 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ25-1", "PR:Q9NQ25-1", "ENSEMBL:ENSP00000357022", "ENSEMBL:ENSP00000357022.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96DU3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SLAM family member 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DU3-1", "PR:Q96DU3-1", "ENSEMBL:ENSP00000357036", "ENSEMBL:ENSP00000357036.3"], "information_content": 100.0}
{"id": "NCBIGene:57216", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VANGL2", "equivalent_identifiers": ["NCBIGene:57216", "ENSEMBL:ENSG00000162738", "HGNC:15511", "OMIM:600533", "UMLS:C1423541", "UniProtKB:A8K4L6", "UMLS:C1172324", "MESH:C468513", "UniProtKB:Q9ULK5", "PR:Q9ULK5", "ENSEMBL:ENSP00000357040", "ENSEMBL:ENSP00000357040.2"], "information_content": 92.8}
{"id": "UniProtKB:Q9ULK4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 23 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULK4-1", "PR:Q9ULK4-1", "ENSEMBL:ENSP00000357047", "ENSEMBL:ENSP00000357047.3"], "information_content": 100.0}
{"id": "UniProtKB:P53621-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coatomer subunit alpha isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P53621-2", "PR:P53621-2", "ENSEMBL:ENSP00000357048", "ENSEMBL:ENSP00000357048.3"], "information_content": 100.0}
{"id": "UniProtKB:P40855-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal biogenesis factor 19 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P40855-1", "PR:P40855-1", "ENSEMBL:ENSP00000357051", "ENSEMBL:ENSP00000357051.5"], "information_content": 100.0}
{"id": "UniProtKB:Q5TAQ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DDB1- and CUL4-associated factor 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TAQ9-1", "PR:Q5TAQ9-1", "ENSEMBL:ENSP00000318227", "ENSEMBL:ENSP00000318227.2", "ENSEMBL:ENSP00000357052", "ENSEMBL:ENSP00000357052.3", "ENSEMBL:ENSP00000357053", "ENSEMBL:ENSP00000357053.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15121-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "astrocytic phosphoprotein PEA-15 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15121-2", "PR:Q15121-2", "ENSEMBL:ENSP00000357055", "ENSEMBL:ENSP00000357055.1"], "information_content": 100.0}
{"id": "NCBIGene:844", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CASQ1", "equivalent_identifiers": ["NCBIGene:844", "ENSEMBL:ENSG00000143318", "HGNC:1512", "OMIM:114250", "UMLS:C1413134", "UniProtKB:P31415", "PR:P31415", "ENSEMBL:ENSP00000357057", "ENSEMBL:ENSP00000357057.3", "UMLS:C1611399", "MESH:C503129"], "information_content": 95.4}
{"id": "UniProtKB:Q13733-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/potassium-transporting ATPase subunit alpha-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13733-1", "PR:Q13733-1", "ENSEMBL:ENSP00000357060", "ENSEMBL:ENSP00000357060.4"], "information_content": 100.0}
{"id": "UniProtKB:Q969P0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "immunoglobulin superfamily member 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969P0-1", "PR:Q969P0-1", "ENSEMBL:ENSP00000316664", "ENSEMBL:ENSP00000316664.7", "ENSEMBL:ENSP00000357065", "ENSEMBL:ENSP00000357065.1", "ENSEMBL:ENSP00000477565", "ENSEMBL:ENSP00000477565.1"], "information_content": 100.0}
{"id": "NCBIGene:3765", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNJ9", "equivalent_identifiers": ["NCBIGene:3765", "ENSEMBL:ENSG00000162728", "HGNC:6270", "OMIM:600932", "UMLS:C1416590", "UniProtKB:Q92806", "PR:Q92806", "ENSEMBL:ENSP00000357067", "ENSEMBL:ENSP00000357067.3", "UMLS:C1566287", "MESH:C497071"], "information_content": 95.4}
{"id": "NCBIGene:93183", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIGM", "equivalent_identifiers": ["NCBIGene:93183", "ENSEMBL:ENSG00000143315", "HGNC:18858", "OMIM:610273", "UMLS:C1425829", "UniProtKB:Q9H3S5", "PR:Q9H3S5", "ENSEMBL:ENSP00000357069", "ENSEMBL:ENSP00000357069.2", "UMLS:C1432083", "MESH:C486036"], "information_content": 95.4}
{"id": "MONDO:0001626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "traumatic glaucoma", "equivalent_identifiers": ["MONDO:0001626", "DOID:13060", "UMLS:C0339594", "MEDDRA:10018313", "MEDDRA:10018330", "SNOMEDCT:68241007", "medgen:573251", "ICD9:365.65"], "information_content": 100.0}
{"id": "UniProtKB:Q96A28-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SLAM family member 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96A28-1", "PR:Q96A28-1", "ENSEMBL:ENSP00000357072", "ENSEMBL:ENSP00000357072.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2J2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein turtle homolog A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2J2-1", "PR:Q9P2J2-1", "ENSEMBL:ENSP00000357073", "ENSEMBL:ENSP00000357073.1"], "information_content": 100.0}
{"id": "UniProtKB:P37802-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transgelin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P37802-2", "PR:P37802-2", "ENSEMBL:ENSP00000357076", "ENSEMBL:ENSP00000357076.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UL16-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 45 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UL16-1", "PR:Q9UL16-1", "ENSEMBL:ENSP00000357079", "ENSEMBL:ENSP00000357079.4"], "information_content": 100.0}
{"id": "NCBIGene:391123", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VSIG8", "equivalent_identifiers": ["NCBIGene:391123", "ENSEMBL:ENSG00000243284", "HGNC:32063", "OMIM:621098", "UMLS:C1823648", "UniProtKB:P0DPA2", "PR:P0DPA2", "ENSEMBL:ENSP00000357080", "ENSEMBL:ENSP00000357080.1"], "information_content": 100.0}
{"id": "NCBIGene:2205", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FCER1A", "equivalent_identifiers": ["NCBIGene:2205", "ENSEMBL:ENSG00000179639", "HGNC:3609", "OMIM:147140", "UMLS:C1414547", "UniProtKB:E9PRN1", "ENSEMBL:ENSP00000357096", "ENSEMBL:ENSP00000357096.1", "ENSEMBL:ENSP00000517535", "ENSEMBL:ENSP00000517535.1", "UniProtKB:P12319", "PR:P12319", "ENSEMBL:ENSP00000357097", "ENSEMBL:ENSP00000357097.1", "ENSEMBL:ENSP00000509626", "ENSEMBL:ENSP00000509626.1", "ENSEMBL:ENSP00000517534", "ENSEMBL:ENSP00000517534.1", "ENSEMBL:ENSP00000517536", "ENSEMBL:ENSP00000517536.1", "UMLS:C1259682", "MESH:C475664"], "information_content": 95.4}
{"id": "UniProtKB:Q16570-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "atypical chemokine receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16570-2", "PR:Q16570-2", "ENSEMBL:ENSP00000357103", "ENSEMBL:ENSP00000357103.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N126-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell adhesion molecule 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N126-2", "PR:Q8N126-2", "ENSEMBL:ENSP00000357106", "ENSEMBL:ENSP00000357106.4"], "information_content": 100.0}
{"id": "UniProtKB:O43491-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "band 4.1-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43491-1", "PR:O43491-1", "ENSEMBL:ENSP00000338481", "ENSEMBL:ENSP00000338481.3", "ENSEMBL:ENSP00000357110", "ENSEMBL:ENSP00000357110.2"], "information_content": 100.0}
{"id": "NCBIGene:9447", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AIM2", "equivalent_identifiers": ["NCBIGene:9447", "ENSEMBL:ENSG00000163568", "HGNC:357", "OMIM:604578", "UMLS:C1332065", "UniProtKB:O14862", "PR:O14862", "ENSEMBL:ENSP00000357112", "ENSEMBL:ENSP00000357112.4", "ENSEMBL:ENSP00000512039", "ENSEMBL:ENSP00000512039.1", "ENSEMBL:ENSP00000512040", "ENSEMBL:ENSP00000512040.1", "ENSEMBL:ENSP00000520906", "ENSEMBL:ENSP00000520906.1", "UMLS:C1332132", "UMLS:C1439014", "MESH:C410167"], "information_content": 92.8}
{"id": "UniProtKB:Q16666-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-interferon-inducible protein 16 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16666-2", "PR:Q16666-2", "ENSEMBL:ENSP00000357113", "ENSEMBL:ENSP00000357113.4", "ENSEMBL:ENSP00000357114", "ENSEMBL:ENSP00000357114.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96JM7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lethal(3)malignant brain tumor-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JM7-1", "PR:Q96JM7-1", "ENSEMBL:ENSP00000354526", "ENSEMBL:ENSP00000354526.2", "ENSEMBL:ENSP00000357118", "ENSEMBL:ENSP00000357118.2"], "information_content": 100.0}
{"id": "MONDO:0012072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial partial lipodystrophy, Kobberling type", "equivalent_identifiers": ["MONDO:0012072", "DOID:0070207", "OMIM:608600", "orphanet:79084", "UMLS:C1720859", "SNOMEDCT:725035001", "medgen:318591"], "information_content": 100.0}
{"id": "UniProtKB:Q6K0P9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyrin and HIN domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6K0P9-1", "PR:Q6K0P9-1", "ENSEMBL:ENSP00000357122", "ENSEMBL:ENSP00000357122.1"], "information_content": 100.0}
{"id": "NCBIGene:4332", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MNDA", "equivalent_identifiers": ["NCBIGene:4332", "ENSEMBL:ENSG00000163563", "HGNC:7183", "OMIM:159553", "UMLS:C1417219", "UniProtKB:P41218", "PR:P41218", "ENSEMBL:ENSP00000357123", "ENSEMBL:ENSP00000357123.4", "UMLS:C1429723", "MESH:C075373", "UniProtKB:Q5VUU6"], "information_content": 87.2}
{"id": "NCBIGene:253582", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM244", "equivalent_identifiers": ["NCBIGene:253582", "ENSEMBL:ENSG00000203756", "HGNC:21571", "UMLS:C3470103", "UniProtKB:Q5VVB8", "PR:Q5VVB8", "ENSEMBL:ENSP00000357125", "ENSEMBL:ENSP00000357125.1", "ENSEMBL:ENSP00000403755", "ENSEMBL:ENSP00000403755.1"], "information_content": 100.0}
{"id": "MONDO:0009691", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mycosis fungoides", "equivalent_identifiers": ["MONDO:0009691", "DOID:8691", "OMIM:254400", "orphanet:2584", "EFO:1001051", "UMLS:C0026948", "MESH:D009182", "MEDDRA:10028483", "MEDDRA:10028484", "MEDDRA:10028500", "NCIT:C3246", "SNOMEDCT:118618005", "SNOMEDCT:90120004", "medgen:7771", "icd11.foundation:901411509", "ICD10:C84.0", "ICD9:202.1"], "information_content": 81.3}
{"id": "DOID:0080409", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial adenomatous polyposis 1", "equivalent_identifiers": ["DOID:0080409"]}
{"id": "MONDO:0014533", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 28", "equivalent_identifiers": ["MONDO:0014533", "DOID:0080452", "OMIM:616211", "UMLS:C4015519", "NCIT:C189273", "medgen:863956"], "information_content": 100.0}
{"id": "UniProtKB:Q8N392-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N392-1", "PR:Q8N392-1", "ENSEMBL:ENSP00000357131", "ENSEMBL:ENSP00000357131.2"], "information_content": 100.0}
{"id": "UniProtKB:P15812-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell surface glycoprotein CD1e, membrane-associated isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P15812-1", "PR:P15812-1", "ENSEMBL:ENSP00000357149", "ENSEMBL:ENSP00000357149.3"], "information_content": 100.0}
{"id": "UniProtKB:P29016-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell surface glycoprotein CD1b isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P29016-1", "PR:P29016-1", "ENSEMBL:ENSP00000357150", "ENSEMBL:ENSP00000357150.3"], "information_content": 100.0}
{"id": "NCBIGene:911", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD1C", "equivalent_identifiers": ["NCBIGene:911", "ENSEMBL:ENSG00000158481", "HGNC:1636", "OMIM:188340", "UMLS:C1413209", "UniProtKB:P29017", "PR:P29017", "ENSEMBL:ENSP00000357152", "ENSEMBL:ENSP00000357152.3", "UMLS:C1611863", "MESH:C437944"], "information_content": 90.9}
{"id": "NCBIGene:922", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD5L", "equivalent_identifiers": ["NCBIGene:922", "ENSEMBL:ENSG00000073754", "HGNC:1690", "OMIM:602592", "UMLS:C1413231", "UniProtKB:O43866", "PR:O43866", "ENSEMBL:ENSP00000357156", "ENSEMBL:ENSP00000357156.4", "UMLS:C1528456", "MESH:C492821"], "information_content": 95.4}
{"id": "UniProtKB:Q96P31-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fc receptor-like protein 3 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q96P31-6", "PR:Q96P31-6", "ENSEMBL:ENSP00000357169", "ENSEMBL:ENSP00000357169.5"], "information_content": 100.0}
{"id": "UniProtKB:P41162-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS translocation variant 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P41162-1", "PR:P41162-1", "ENSEMBL:ENSP00000357175", "ENSEMBL:ENSP00000357175.4"], "information_content": 100.0}
{"id": "UniProtKB:O15085-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 11 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15085-2", "PR:O15085-2", "ENSEMBL:ENSP00000357177", "ENSEMBL:ENSP00000357177.3"], "information_content": 100.0}
{"id": "NCBIGene:3645", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INSRR", "equivalent_identifiers": ["NCBIGene:3645", "ENSEMBL:ENSG00000027644", "HGNC:6093", "OMIM:147671", "UMLS:C1416459", "UniProtKB:P14616", "PR:P14616", "ENSEMBL:ENSP00000357178", "ENSEMBL:ENSP00000357178.3", "UMLS:C4082285"], "information_content": 95.4}
{"id": "UniProtKB:P51858-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hepatoma-derived growth factor isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P51858-3", "PR:P51858-3", "ENSEMBL:ENSP00000357189", "ENSEMBL:ENSP00000357189.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96FB5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methyltransferase-like protein 25B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FB5-1", "PR:Q96FB5-1", "ENSEMBL:ENSP00000357199", "ENSEMBL:ENSP00000357199.4"], "information_content": 100.0}
{"id": "NCBIGene:10763", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NES", "equivalent_identifiers": ["NCBIGene:10763", "ENSEMBL:ENSG00000132688", "HGNC:7756", "OMIM:600915", "UMLS:C1417679", "UniProtKB:P48681", "PR:P48681", "ENSEMBL:ENSP00000357206", "ENSEMBL:ENSP00000357206.3", "UMLS:C3711758", "MESH:C577484", "UniProtKB:Q9H6U9"], "information_content": 95.4}
{"id": "UniProtKB:Q8NCW5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NAD(P)H-hydrate epimerase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCW5-1", "PR:Q8NCW5-1", "ENSEMBL:ENSP00000357218", "ENSEMBL:ENSP00000357218.3", "ENSEMBL:ENSP00000505349", "ENSEMBL:ENSP00000505349.1", "ENSEMBL:ENSP00000505899", "ENSEMBL:ENSP00000505899.1", "ENSEMBL:ENSP00000505913", "ENSEMBL:ENSP00000505913.1", "ENSEMBL:ENSP00000506192", "ENSEMBL:ENSP00000506192.1", "ENSEMBL:ENSP00000506275", "ENSEMBL:ENSP00000506275.1"], "information_content": 95.4}
{"id": "NCBIGene:164118", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTC24", "equivalent_identifiers": ["NCBIGene:164118", "ENSEMBL:ENSG00000187862", "HGNC:32348", "UMLS:C1823528", "UniProtKB:A2A3L6", "PR:A2A3L6", "ENSEMBL:ENSP00000357219", "ENSEMBL:ENSP00000357219.3", "ENSEMBL:ENSP00000517290", "ENSEMBL:ENSP00000517290.1"], "information_content": 95.4}
{"id": "NCBIGene:128229", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSACC", "equivalent_identifiers": ["NCBIGene:128229", "ENSEMBL:ENSG00000163467", "HGNC:30636", "OMIM:619679", "UMLS:C1823796", "UniProtKB:Q96A04", "PR:Q96A04", "ENSEMBL:ENSP00000357234", "ENSEMBL:ENSP00000357234.1", "ENSEMBL:ENSP00000357235", "ENSEMBL:ENSP00000357235.1", "ENSEMBL:ENSP00000357236", "ENSEMBL:ENSP00000357236.1", "ENSEMBL:ENSP00000357237", "ENSEMBL:ENSP00000357237.1", "ENSEMBL:ENSP00000357238", "ENSEMBL:ENSP00000357238.3", "UniProtKB:V9GYT6", "ENSEMBL:ENSP00000476780", "ENSEMBL:ENSP00000476780.1", "ENSEMBL:ENSP00000477010", "ENSEMBL:ENSP00000477010.1", "ENSEMBL:ENSP00000477074", "ENSEMBL:ENSP00000477074.1"], "information_content": 100.0}
{"id": "NCBIGene:632", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BGLAP", "equivalent_identifiers": ["NCBIGene:632", "ENSEMBL:ENSG00000242252", "HGNC:1043", "OMIM:112260", "UMLS:C1412791", "UniProtKB:P02818", "PR:P02818", "ENSEMBL:ENSP00000357255", "ENSEMBL:ENSP00000357255.4", "UMLS:C4743022", "MESH:C000628935"], "information_content": 92.8}
{"id": "UniProtKB:Q6P1K2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyamine-modulated factor 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6P1K2-2", "PR:Q6P1K2-2", "ENSEMBL:ENSP00000357256", "ENSEMBL:ENSP00000357256.4"], "information_content": 100.0}
{"id": "MONDO:0005620", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral amyloid angiopathy", "equivalent_identifiers": ["MONDO:0005620", "DOID:9246", "orphanet:85458", "EFO:0006790", "UMLS:C0085220", "UMLS:C1510489", "UMLS:C1956349", "MESH:D016657", "MEDDRA:10068044", "MEDDRA:10082093", "NCIT:C84625", "SNOMEDCT:230724001", "SNOMEDCT:724357007", "medgen:267610", "HP:0011970"], "information_content": 84.2}
{"id": "UniProtKB:Q9H3S1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "semaphorin-4A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3S1-1", "PR:Q9H3S1-1", "ENSEMBL:ENSP00000347117", "ENSEMBL:ENSP00000347117.2", "ENSEMBL:ENSP00000357265", "ENSEMBL:ENSP00000357265.1", "ENSEMBL:ENSP00000357268", "ENSEMBL:ENSP00000357268.3"], "information_content": 100.0}
{"id": "UniProtKB:P02545-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prelamin-A/C isoform A (human)", "equivalent_identifiers": ["UniProtKB:P02545-1", "PR:P02545-1", "ENSEMBL:ENSP00000355292", "ENSEMBL:ENSP00000355292.6", "ENSEMBL:ENSP00000357283", "ENSEMBL:ENSP00000357283.4", "ENSEMBL:ENSP00000502256", "ENSEMBL:ENSP00000502256.1", "ENSEMBL:ENSP00000506771", "ENSEMBL:ENSP00000506771.1"], "information_content": 100.0}
{"id": "MONDO:0001327", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pelvic muscle wasting", "equivalent_identifiers": ["MONDO:0001327", "DOID:11629", "UMLS:C1456255", "medgen:1843467", "ICD10:N81.84", "ICD9:618.83"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2Q5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ragulator complex protein LAMTOR2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2Q5-1", "PR:Q9Y2Q5-1", "ENSEMBL:ENSP00000357288", "ENSEMBL:ENSP00000357288.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRR5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquilin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRR5-1", "PR:Q9NRR5-1", "ENSEMBL:ENSP00000357292", "ENSEMBL:ENSP00000357292.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NTX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF146 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NTX7-1", "PR:Q9NTX7-1", "ENSEMBL:ENSP00000357297", "ENSEMBL:ENSP00000357297.1", "ENSEMBL:ENSP00000476814", "ENSEMBL:ENSP00000476814.1"], "information_content": 100.0}
{"id": "MONDO:0000395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alcohol-related birth defect", "equivalent_identifiers": ["MONDO:0000395", "DOID:0050668", "UMLS:C3146244", "NCIT:C92727", "medgen:459973"], "information_content": 100.0}
{"id": "NCBIGene:339403", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RXFP4", "equivalent_identifiers": ["NCBIGene:339403", "ENSEMBL:ENSG00000173080", "HGNC:14666", "OMIM:609043", "UMLS:C1826959", "UniProtKB:Q8TDU9", "PR:Q8TDU9", "ENSEMBL:ENSP00000357301", "ENSEMBL:ENSP00000357301.4", "UMLS:C1433391", "MESH:C480239"], "information_content": 100.0}
{"id": "UniProtKB:Q92963-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTP-binding protein Rit1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q92963-3", "PR:Q92963-3", "ENSEMBL:ENSP00000357305", "ENSEMBL:ENSP00000357305.3"], "information_content": 100.0}
{"id": "MONDO:0011456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 3", "equivalent_identifiers": ["MONDO:0011456", "DOID:0111114", "OMIM:604387", "UMLS:C1858392", "MESH:C565780", "SNOMEDCT:444749006", "medgen:346809"], "information_content": 100.0}
{"id": "NCBIGene:23208", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYT11", "equivalent_identifiers": ["NCBIGene:23208", "ENSEMBL:ENSG00000132718", "HGNC:19239", "OMIM:608741", "UMLS:C1426106", "UniProtKB:Q9BT88", "PR:Q9BT88", "ENSEMBL:ENSP00000357307", "ENSEMBL:ENSP00000357307.4", "UMLS:C1530343", "MESH:C494265"], "information_content": 90.9}
{"id": "UniProtKB:Q5EE01-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centromere protein W isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5EE01-2", "PR:Q5EE01-2", "ENSEMBL:ENSP00000357308", "ENSEMBL:ENSP00000357308.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3T8J9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GON-4-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3T8J9-1", "PR:Q3T8J9-1", "ENSEMBL:ENSP00000357315", "ENSEMBL:ENSP00000357315.1", "ENSEMBL:ENSP00000483100", "ENSEMBL:ENSP00000483100.1"], "information_content": 100.0}
{"id": "UniProtKB:P51398-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ribosomal subunit protein mS29 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51398-1", "PR:P51398-1", "ENSEMBL:ENSP00000341692", "ENSEMBL:ENSP00000341692.3", "ENSEMBL:ENSP00000357320", "ENSEMBL:ENSP00000357320.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9H869-9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "YY1-associated protein 1 isoform h9 (human)", "equivalent_identifiers": ["UniProtKB:Q9H869-9", "PR:Q9H869-9", "ENSEMBL:ENSP00000357323", "ENSEMBL:ENSP00000357323.5"], "information_content": 100.0}
{"id": "NCBIGene:57657", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HCN3", "equivalent_identifiers": ["NCBIGene:57657", "ENSEMBL:ENSG00000143630", "HGNC:19183", "OMIM:609973", "UMLS:C1426072", "UniProtKB:Q9P1Z3", "PR:Q9P1Z3", "ENSEMBL:ENSP00000357342", "ENSEMBL:ENSP00000357342.3", "ENSEMBL:ENSP00000458364", "ENSEMBL:ENSP00000458364.1", "UMLS:C1174862", "MESH:C472018"], "information_content": 100.0}
{"id": "UniProtKB:P49760-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein kinase CLK2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49760-1", "PR:P49760-1", "ENSEMBL:ENSP00000357345", "ENSEMBL:ENSP00000357345.4", "ENSEMBL:ENSP00000460443", "ENSEMBL:ENSP00000460443.1"], "information_content": 100.0}
{"id": "NCBIGene:23493", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HEY2", "equivalent_identifiers": ["NCBIGene:23493", "ENSEMBL:ENSG00000135547", "HGNC:4881", "OMIM:604674", "UMLS:C1415525", "UniProtKB:Q5TF93", "ENSEMBL:ENSP00000357349", "ENSEMBL:ENSP00000357349.1", "UMLS:C1438843", "MESH:C405693", "UniProtKB:Q9UBP5", "PR:Q9UBP5", "ENSEMBL:ENSP00000357348", "ENSEMBL:ENSP00000357348.3", "UMLS:C3538964"], "information_content": 100.0}
{"id": "UniProtKB:Q13505-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metaxin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13505-1", "PR:Q13505-1", "ENSEMBL:ENSP00000357360", "ENSEMBL:ENSP00000357360.3"], "information_content": 100.0}
{"id": "MONDO:0010656", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 1", "equivalent_identifiers": ["MONDO:0010656", "DOID:0112038", "OMIM:309530", "orphanet:397933", "UMLS:C1845181", "UMLS:C2931498", "MESH:C564489", "MESH:C567906", "NCIT:C133729", "SNOMEDCT:774149004", "medgen:444070"], "information_content": 100.0}
{"id": "UniProtKB:P49746-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thrombospondin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49746-1", "PR:P49746-1", "ENSEMBL:ENSP00000357362", "ENSEMBL:ENSP00000357362.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2X0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dolichol-phosphate mannosyltransferase subunit 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2X0-2", "PR:Q9P2X0-2", "ENSEMBL:ENSP00000357384", "ENSEMBL:ENSP00000357384.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRV3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sugar transporter SWEET1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRV3-1", "PR:Q9BRV3-1", "ENSEMBL:ENSP00000357389", "ENSEMBL:ENSP00000357389.4"], "information_content": 100.0}
{"id": "UniProtKB:P20827-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin-A1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20827-1", "PR:P20827-1", "ENSEMBL:ENSP00000357392", "ENSEMBL:ENSP00000357392.3"], "information_content": 100.0}
{"id": "UniProtKB:P52797-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin-A3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P52797-1", "PR:P52797-1", "ENSEMBL:ENSP00000357393", "ENSEMBL:ENSP00000357393.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5VXU1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VXU1-1", "PR:Q5VXU1-1", "ENSEMBL:ENSP00000357402", "ENSEMBL:ENSP00000357402.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5T1A1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DC-STAMP domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T1A1-1", "PR:Q5T1A1-1", "ENSEMBL:ENSP00000357409", "ENSEMBL:ENSP00000357409.3"], "information_content": 100.0}
{"id": "UniProtKB:Q03933-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heat shock factor protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q03933-1", "PR:Q03933-1", "ENSEMBL:ENSP00000357440", "ENSEMBL:ENSP00000357440.4"], "information_content": 100.0}
{"id": "NCBIGene:90780", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PYGO2", "equivalent_identifiers": ["NCBIGene:90780", "ENSEMBL:ENSG00000163348", "HGNC:30257", "OMIM:606903", "UMLS:C1538759", "UniProtKB:Q5T170", "UMLS:C1122853", "MESH:C453401", "UniProtKB:Q9BRQ0", "PR:Q9BRQ0", "ENSEMBL:ENSP00000357442", "ENSEMBL:ENSP00000357442.2"], "information_content": 95.4}
{"id": "UniProtKB:Q96AQ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pre-B-cell leukemia transcription factor-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AQ6-1", "PR:Q96AQ6-1", "ENSEMBL:ENSP00000357448", "ENSEMBL:ENSP00000357448.3"], "information_content": 100.0}
{"id": "NCBIGene:10654", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PMVK", "equivalent_identifiers": ["NCBIGene:10654", "ENSEMBL:ENSG00000163344", "HGNC:9141", "OMIM:607622", "UMLS:C1418695", "UniProtKB:Q15126", "PR:Q15126", "ENSEMBL:ENSP00000357452", "ENSEMBL:ENSP00000357452.3", "UMLS:C1565653", "UniProtKB:Q6FGV9"], "information_content": 79.9}
{"id": "UniProtKB:P33908-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IA isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P33908-1", "PR:P33908-1", "ENSEMBL:ENSP00000357453", "ENSEMBL:ENSP00000357453.3"], "information_content": 100.0}
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{"id": "NCBIGene:1892", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ECHS1", "equivalent_identifiers": ["NCBIGene:1892", "ENSEMBL:ENSG00000127884", "HGNC:3151", "OMIM:602292", "UMLS:C1414247", "UniProtKB:P30084", "PR:P30084", "ENSEMBL:ENSP00000357535", "ENSEMBL:ENSP00000357535.3", "UMLS:C4041583", "MESH:C000600529"], "information_content": 80.2}
{"id": "NCBIGene:221303", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM162B", "equivalent_identifiers": ["NCBIGene:221303", "ENSEMBL:ENSG00000183807", "HGNC:21549", "UMLS:C1427603", "UniProtKB:Q5T6X4", "PR:Q5T6X4", "ENSEMBL:ENSP00000357545", "ENSEMBL:ENSP00000357545.4"], "information_content": 100.0}
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{"id": "NCBIGene:27287", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VENTX", "equivalent_identifiers": ["NCBIGene:27287", "ENSEMBL:ENSG00000151650", "HGNC:13639", "OMIM:607158", "UMLS:C1823620", "UniProtKB:O95231", "PR:O95231", "ENSEMBL:ENSP00000357556", "ENSEMBL:ENSP00000357556.5", "UMLS:C1309491", "MESH:C408346"], "information_content": 100.0}
{"id": "NCBIGene:5872", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB13", "equivalent_identifiers": ["NCBIGene:5872", "ENSEMBL:ENSG00000143545", "HGNC:9762", "OMIM:602672", "UMLS:C1419191", "UniProtKB:A0A087WWB9", "ENSEMBL:ENSP00000480103", "ENSEMBL:ENSP00000480103.1", "UMLS:C1437731", "MESH:C085485", "UniProtKB:P51153", "PR:P51153", "ENSEMBL:ENSP00000357564", "ENSEMBL:ENSP00000357564.3", "UniProtKB:Q504R6"], "information_content": 95.4}
{"id": "UniProtKB:Q96AP4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger-containing ubiquitin peptidase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AP4-1", "PR:Q96AP4-1", "ENSEMBL:ENSP00000357565", "ENSEMBL:ENSP00000357565.3"], "information_content": 100.0}
{"id": "MONDO:0009292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease due to glycogen branching enzyme deficiency", "equivalent_identifiers": ["MONDO:0009292", "DOID:2750", "OMIM:232500", "orphanet:367", "UMLS:C0017923", "UMLS:C1856301", "UMLS:C2936914", "MESH:C537275", "MESH:C565539", "MESH:D006011", "MEDDRA:10018467", "MEDDRA:10053249", "MEDDRA:10053258", "NCIT:C84737", "SNOMEDCT:11179002", "SNOMEDCT:124267007", "medgen:6642"], "information_content": 85.5}
{"id": "UniProtKB:Q8IYW2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 46 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYW2-1", "PR:Q8IYW2-1", "ENSEMBL:ENSP00000357575", "ENSEMBL:ENSP00000357575.4"], "information_content": 100.0}
{"id": "NCBIGene:84504", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKX6-2", "equivalent_identifiers": ["NCBIGene:84504", "ENSEMBL:ENSG00000148826", "HGNC:19321", "OMIM:605955", "UMLS:C1426161", "UniProtKB:Q9C056", "PR:Q9C056", "ENSEMBL:ENSP00000357581", "ENSEMBL:ENSP00000357581.5", "UMLS:C1309889", "MESH:C425301"], "information_content": 100.0}
{"id": "NCBIGene:3632", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INPP5A", "equivalent_identifiers": ["NCBIGene:3632", "ENSEMBL:ENSG00000068383", "HGNC:6076", "OMIM:600106", "UMLS:C1416444", "UniProtKB:Q14642", "PR:Q14642", "ENSEMBL:ENSP00000357583", "ENSEMBL:ENSP00000357583.3", "UMLS:C4308032", "MESH:C000606429"], "information_content": 100.0}
{"id": "NCBIGene:254228", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CALHM5", "equivalent_identifiers": ["NCBIGene:254228", "ENSEMBL:ENSG00000178033", "HGNC:21568", "UMLS:C1427617", "UniProtKB:Q8N5C1", "PR:Q8N5C1", "ENSEMBL:ENSP00000357588", "ENSEMBL:ENSP00000357588.3"], "information_content": 95.4}
{"id": "UniProtKB:Q5T215-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trafficking protein particle complex subunit 3-like protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T215-1", "PR:Q5T215-1", "ENSEMBL:ENSP00000357591", "ENSEMBL:ENSP00000357591.3"], "information_content": 100.0}
{"id": "MONDO:0007308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2A1", "equivalent_identifiers": ["MONDO:0007308", "DOID:0110154", "OMIM:118210", "orphanet:99946", "UMLS:C1861678", "UMLS:C2079538", "MESH:C537988", "MESH:C566138", "NCIT:C134952", "NCIT:C150609", "SNOMEDCT:717016001", "medgen:350076", "icd11.foundation:2087067372"], "information_content": 92.8}
{"id": "UniProtKB:Q5R3K3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium homeostasis modulator protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5R3K3-1", "PR:Q5R3K3-1", "ENSEMBL:ENSP00000357594", "ENSEMBL:ENSP00000357594.1"], "information_content": 100.0}
{"id": "NCBIGene:7259", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPYL1", "equivalent_identifiers": ["NCBIGene:7259", "ENSEMBL:ENSG00000189241", "HGNC:12382", "OMIM:604714", "UMLS:C1421208", "UniProtKB:Q9H0U9", "PR:Q9H0U9", "ENSEMBL:ENSP00000357597", "ENSEMBL:ENSP00000357597.4", "ENSEMBL:ENSP00000498597", "ENSEMBL:ENSP00000498597.1", "UMLS:C1721632", "MESH:C510183"], "information_content": 100.0}
{"id": "MONDO:0016489", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "delta-beta-thalassemia", "equivalent_identifiers": ["MONDO:0016489", "DOID:0080773", "OMIM:141749", "orphanet:231237", "UMLS:C0271985", "UMLS:C1841621", "MESH:C562716", "MEDDRA:10012236", "MEDDRA:10054370", "NCIT:C172823", "SNOMEDCT:16360009", "medgen:78790"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY26-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc transporter ZIP1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY26-1", "PR:Q9NY26-1", "ENSEMBL:ENSP00000309710", "ENSEMBL:ENSP00000309710.6", "ENSEMBL:ENSP00000348535", "ENSEMBL:ENSP00000348535.4", "ENSEMBL:ENSP00000357610", "ENSEMBL:ENSP00000357610.1", "ENSEMBL:ENSP00000357612", "ENSEMBL:ENSP00000357612.3", "ENSEMBL:ENSP00000479421", "ENSEMBL:ENSP00000479421.1", "ENSEMBL:ENSP00000484182", "ENSEMBL:ENSP00000484182.1"], "information_content": 100.0}
{"id": "MONDO:0010156", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Troyer syndrome", "equivalent_identifiers": ["MONDO:0010156", "DOID:0050886", "OMIM:275900", "orphanet:101000", "UMLS:C0393559", "MESH:C536858", "SNOMEDCT:230264003", "medgen:97950", "ICD10:G11.4"], "information_content": 100.0}
{"id": "NCBIGene:200186", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRTC2", "equivalent_identifiers": ["NCBIGene:200186", "ENSEMBL:ENSG00000160741", "HGNC:27301", "OMIM:608972", "UMLS:C1824799", "UniProtKB:Q53ET0", "PR:Q53ET0", "ENSEMBL:ENSP00000357622", "ENSEMBL:ENSP00000357622.1", "UMLS:C1528985", "MESH:C493245"], "information_content": 92.8}
{"id": "NCBIGene:664", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BNIP3", "equivalent_identifiers": ["NCBIGene:664", "ENSEMBL:ENSG00000176171", "HGNC:1084", "OMIM:603293", "UMLS:C1412812", "UniProtKB:Q12983", "PR:Q12983", "ENSEMBL:ENSP00000357625", "ENSEMBL:ENSP00000357625.6", "UMLS:C0763459", "MESH:C090121", "UniProtKB:Q6NVY4"], "information_content": 100.0}
{"id": "NCBIGene:256536", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCERG1L", "equivalent_identifiers": ["NCBIGene:256536", "ENSEMBL:ENSG00000176769", "HGNC:23533", "OMIM:620498", "UMLS:C1428127", "UniProtKB:Q5VWI1", "PR:Q5VWI1", "ENSEMBL:ENSP00000357631", "ENSEMBL:ENSP00000357631.4", "UMLS:C4053924"], "information_content": 100.0}
{"id": "NCBIGene:10539", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLRX3", "equivalent_identifiers": ["NCBIGene:10539", "ENSEMBL:ENSG00000108010", "HGNC:15987", "OMIM:612754", "UMLS:C1423888", "UniProtKB:A0A140VJK1", "UniProtKB:O76003", "PR:O76003", "ENSEMBL:ENSP00000330836", "ENSEMBL:ENSP00000330836.5", "ENSEMBL:ENSP00000357633", "ENSEMBL:ENSP00000357633.1", "ENSEMBL:ENSP00000435445", "ENSEMBL:ENSP00000435445.1", "UMLS:C1259202", "MESH:C404105"], "information_content": 89.4}
{"id": "UniProtKB:Q9H4W6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor COE3 isoform Short (human)", "equivalent_identifiers": ["UniProtKB:Q9H4W6-2", "PR:Q9H4W6-2", "ENSEMBL:ENSP00000357637", "ENSEMBL:ENSP00000357637.3"], "information_content": 100.0}
{"id": "UniProtKB:P46013-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proliferation marker protein Ki-67 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P46013-1", "PR:P46013-1", "ENSEMBL:ENSP00000357643", "ENSEMBL:ENSP00000357643.3"], "information_content": 100.0}
{"id": "NCBIGene:57459", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GATAD2B", "equivalent_identifiers": ["NCBIGene:57459", "ENSEMBL:ENSG00000143614", "HGNC:30778", "OMIM:614998", "UMLS:C1539553", "UniProtKB:Q8WXI9", "PR:Q8WXI9", "ENSEMBL:ENSP00000357644", "ENSEMBL:ENSP00000357644.4", "ENSEMBL:ENSP00000458280", "ENSEMBL:ENSP00000458280.1", "ENSEMBL:ENSP00000489184", "ENSEMBL:ENSP00000489184.1", "UMLS:C1172447", "MESH:C468770"], "information_content": 95.4}
{"id": "NCBIGene:51175", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBE1", "equivalent_identifiers": ["NCBIGene:51175", "ENSEMBL:ENSG00000074935", "HGNC:20775", "OMIM:607345", "UMLS:C1427122", "UniProtKB:Q9UJT0", "PR:Q9UJT0", "ENSEMBL:ENSP00000357651", "ENSEMBL:ENSP00000357651.5"], "information_content": 95.4}
{"id": "UniProtKB:O95389-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cellular communication network factor 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95389-1", "PR:O95389-1", "ENSEMBL:ENSP00000230529", "ENSEMBL:ENSP00000230529.5", "ENSEMBL:ENSP00000357655", "ENSEMBL:ENSP00000357655.4", "ENSEMBL:ENSP00000473777", "ENSEMBL:ENSP00000473777.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCR9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "clarin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCR9-1", "PR:Q8NCR9-1", "ENSEMBL:ENSP00000357660", "ENSEMBL:ENSP00000357660.3"], "information_content": 100.0}
{"id": "UniProtKB:O43184-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43184-1", "PR:O43184-1", "ENSEMBL:ENSP00000357668", "ENSEMBL:ENSP00000357668.4"], "information_content": 100.0}
{"id": "NCBIGene:4881", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPR1", "equivalent_identifiers": ["NCBIGene:4881", "ENSEMBL:ENSG00000169418", "HGNC:7943", "OMIM:108960", "UMLS:C1417810", "UniProtKB:A0A140VJE6", "UniProtKB:P16066", "PR:P16066", "ENSEMBL:ENSP00000357669", "ENSEMBL:ENSP00000357669.3", "UMLS:C1529723"], "information_content": 92.8}
{"id": "NCBIGene:23557", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNAPIN", "equivalent_identifiers": ["NCBIGene:23557", "ENSEMBL:ENSG00000143553", "HGNC:17145", "OMIM:607007", "UMLS:C1424777", "UniProtKB:O95295", "PR:O95295", "ENSEMBL:ENSP00000357674", "ENSEMBL:ENSP00000357674.5", "UMLS:C0766014", "MESH:C118519"], "information_content": 92.8}
{"id": "UniProtKB:Q9Y3Y2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromatin target of PRMT1 protein isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3Y2-3", "PR:Q9Y3Y2-3", "ENSEMBL:ENSP00000357679", "ENSEMBL:ENSP00000357679.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TC84-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibronectin type 3 and ankyrin repeat domains protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TC84-1", "PR:Q8TC84-1", "ENSEMBL:ENSP00000357682", "ENSEMBL:ENSP00000357682.1"], "information_content": 100.0}
{"id": "NCBIGene:57402", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100A14", "equivalent_identifiers": ["NCBIGene:57402", "ENSEMBL:ENSG00000189334", "HGNC:18901", "OMIM:607986", "UMLS:C1425869", "UniProtKB:Q9HCY8", "PR:Q9HCY8", "ENSEMBL:ENSP00000340463", "ENSEMBL:ENSP00000340463.2", "ENSEMBL:ENSP00000357690", "ENSEMBL:ENSP00000357690.1", "ENSEMBL:ENSP00000357691", "ENSEMBL:ENSP00000357691.1", "ENSEMBL:ENSP00000420296", "ENSEMBL:ENSP00000420296.1", "UMLS:C1138549", "MESH:C462950"], "information_content": 95.4}
{"id": "NCBIGene:140576", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100A16", "equivalent_identifiers": ["NCBIGene:140576", "ENSEMBL:ENSG00000188643", "HGNC:20441", "OMIM:617437", "UMLS:C1426939", "UniProtKB:Q96FQ6", "PR:Q96FQ6", "ENSEMBL:ENSP00000357692", "ENSEMBL:ENSP00000357692.1", "ENSEMBL:ENSP00000357693", "ENSEMBL:ENSP00000357693.1", "ENSEMBL:ENSP00000357694", "ENSEMBL:ENSP00000357694.1", "ENSEMBL:ENSP00000357695", "ENSEMBL:ENSP00000357695.3", "UMLS:C3851840", "MESH:C000589580"], "information_content": 100.0}
{"id": "NCBIGene:6274", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100A3", "equivalent_identifiers": ["NCBIGene:6274", "ENSEMBL:ENSG00000188015", "HGNC:10493", "OMIM:176992", "UMLS:C1419785", "UniProtKB:P33764", "PR:P33764", "ENSEMBL:ENSP00000357701", "ENSEMBL:ENSP00000357701.1", "ENSEMBL:ENSP00000357702", "ENSEMBL:ENSP00000357702.3", "UMLS:C0527745", "MESH:C082356"], "information_content": 95.4}
{"id": "NCBIGene:6275", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100A4", "equivalent_identifiers": ["NCBIGene:6275", "ENSEMBL:ENSG00000196154", "HGNC:10494", "OMIM:114210", "UMLS:C1419786", "UniProtKB:P26447", "PR:P26447", "ENSEMBL:ENSP00000346294", "ENSEMBL:ENSP00000346294.4", "ENSEMBL:ENSP00000357703", "ENSEMBL:ENSP00000357703.1", "ENSEMBL:ENSP00000357704", "ENSEMBL:ENSP00000357704.1", "ENSEMBL:ENSP00000357705", "ENSEMBL:ENSP00000357705.4", "UMLS:C0287850", "MESH:C077591"], "information_content": 83.1}
{"id": "UniProtKB:P33763-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein S100-A5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P33763-1", "PR:P33763-1", "ENSEMBL:ENSP00000357706", "ENSEMBL:ENSP00000357706.2", "ENSEMBL:ENSP00000357707", "ENSEMBL:ENSP00000357707.1"], "information_content": 100.0}
{"id": "NCBIGene:6277", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100A6", "equivalent_identifiers": ["NCBIGene:6277", "ENSEMBL:ENSG00000197956", "HGNC:10496", "OMIM:114110", "UMLS:C1419788", "UniProtKB:P06703", "PR:P06703", "ENSEMBL:ENSP00000357708", "ENSEMBL:ENSP00000357708.3", "ENSEMBL:ENSP00000357709", "ENSEMBL:ENSP00000357709.1", "ENSEMBL:ENSP00000473589", "ENSEMBL:ENSP00000473589.1", "UMLS:C0633231", "MESH:C055351"], "information_content": 95.4}
{"id": "NCBIGene:6278", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100A7", "equivalent_identifiers": ["NCBIGene:6278", "ENSEMBL:ENSG00000143556", "HGNC:10497", "OMIM:600353", "UMLS:C1419789", "UniProtKB:P31151", "PR:P31151", "ENSEMBL:ENSP00000357711", "ENSEMBL:ENSP00000357711.1", "ENSEMBL:ENSP00000357712", "ENSEMBL:ENSP00000357712.3", "UMLS:C1611561", "MESH:C089242"], "information_content": 95.4}
{"id": "NCBIGene:338324", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100A7A", "equivalent_identifiers": ["NCBIGene:338324", "ENSEMBL:ENSG00000184330", "HGNC:21657", "OMIM:617427", "UMLS:C1826961", "UniProtKB:Q86SG5", "PR:Q86SG5", "ENSEMBL:ENSP00000329008", "ENSEMBL:ENSP00000329008.2", "ENSEMBL:ENSP00000357717", "ENSEMBL:ENSP00000357717.1", "ENSEMBL:ENSP00000357718", "ENSEMBL:ENSP00000357718.3", "UMLS:C1721921", "MESH:C510475"], "information_content": 100.0}
{"id": "NCBIGene:6279", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100A8", "equivalent_identifiers": ["NCBIGene:6279", "ENSEMBL:ENSG00000143546", "HGNC:10498", "OMIM:123885", "UMLS:C1366582", "UniProtKB:P05109", "PR:P05109", "ENSEMBL:ENSP00000357721", "ENSEMBL:ENSP00000357721.1", "ENSEMBL:ENSP00000357722", "ENSEMBL:ENSP00000357722.3", "UMLS:C4281719", "UMLS:C4742895", "MESH:C000628745"], "information_content": 95.4}
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{"id": "NCBIGene:6280", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100A9", "equivalent_identifiers": ["NCBIGene:6280", "ENSEMBL:ENSG00000163220", "HGNC:10499", "OMIM:123886", "UMLS:C1335798", "UniProtKB:P06702", "PR:P06702", "ENSEMBL:ENSP00000357727", "ENSEMBL:ENSP00000357727.3", "UMLS:C4281724", "UMLS:C4742404", "MESH:C000628744"], "information_content": 90.9}
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{"id": "NCBIGene:339398", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LINGO4", "equivalent_identifiers": ["NCBIGene:339398", "ENSEMBL:ENSG00000213171", "HGNC:31814", "OMIM:609794", "UMLS:C1537616", "UniProtKB:Q6UY18", "PR:Q6UY18", "ENSEMBL:ENSP00000357810", "ENSEMBL:ENSP00000357810.4", "UMLS:C3492762", "MESH:C572789"], "information_content": 95.4}
{"id": "NCBIGene:387718", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX36", "equivalent_identifiers": ["NCBIGene:387718", "ENSEMBL:ENSG00000175018", "HGNC:31653", "UMLS:C1539003", "UniProtKB:A0PJZ8", "UniProtKB:E9PJL2", "ENSEMBL:ENSP00000431764", "ENSEMBL:ENSP00000431764.1", "UniProtKB:Q5VZQ5", "PR:Q5VZQ5", "ENSEMBL:ENSP00000357811", "ENSEMBL:ENSP00000357811.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2W6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tudor and KH domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2W6-2", "PR:Q9Y2W6-2", "ENSEMBL:ENSP00000357812", "ENSEMBL:ENSP00000357812.1", "ENSEMBL:ENSP00000357815", "ENSEMBL:ENSP00000357815.3", "ENSEMBL:ENSP00000357819", "ENSEMBL:ENSP00000357819.6", "ENSEMBL:ENSP00000395718", "ENSEMBL:ENSP00000395718.2"], "information_content": 100.0}
{"id": "NCBIGene:65005", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL9", "equivalent_identifiers": ["NCBIGene:65005", "ENSEMBL:ENSG00000143436", "HGNC:14277", "OMIM:611824", "UMLS:C1422536", "UniProtKB:Q5SZR1", "ENSEMBL:ENSP00000357822", "ENSEMBL:ENSP00000357822.3", "UMLS:C5882328", "MESH:C000729796", "UniProtKB:Q9BYD2", "PR:Q9BYD2", "ENSEMBL:ENSP00000357823", "ENSEMBL:ENSP00000357823.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9H008-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H008-1", "PR:Q9H008-1", "ENSEMBL:ENSP00000357835", "ENSEMBL:ENSP00000357835.5"], "information_content": 100.0}
{"id": "UniProtKB:P04181-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ornithine aminotransferase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P04181-1", "PR:P04181-1", "ENSEMBL:ENSP00000357838", "ENSEMBL:ENSP00000357838.5"], "information_content": 100.0}
{"id": "MONDO:0003748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "flying phobia", "equivalent_identifiers": ["MONDO:0003748", "DOID:605", "EFO:1001889", "UMLS:C0344318", "MESH:C000719189", "MEDDRA:10034914", "MEDDRA:10080300", "NCIT:C35413", "SNOMEDCT:247853008", "SNOMEDCT:247854002", "medgen:83369", "ICD10:F40.243"], "information_content": 100.0}
{"id": "UniProtKB:Q9NNX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tuftelin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NNX1-1", "PR:Q9NNX1-1", "ENSEMBL:ENSP00000357842", "ENSEMBL:ENSP00000357842.3"], "information_content": 100.0}
{"id": "NCBIGene:117247", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC16A10", "equivalent_identifiers": ["NCBIGene:117247", "ENSEMBL:ENSG00000112394", "HGNC:17027", "OMIM:607550", "UMLS:C1424697", "UniProtKB:Q8TF71", "PR:Q8TF71", "ENSEMBL:ENSP00000357844", "ENSEMBL:ENSP00000357844.4", "UMLS:C1528163", "MESH:C498964"], "information_content": 95.4}
{"id": "MONDO:0001361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spontaneous ocular nystagmus", "equivalent_identifiers": ["MONDO:0001361", "DOID:11771", "UMLS:C0271384", "MEDDRA:10047539", "SNOMEDCT:45339001", "medgen:75748", "ICD10:H55.03", "ICD9:379.53"], "information_content": 100.0}
{"id": "UniProtKB:O43684-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitotic checkpoint protein BUB3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43684-1", "PR:O43684-1", "ENSEMBL:ENSP00000357858", "ENSEMBL:ENSP00000357858.4"], "information_content": 100.0}
{"id": "NCBIGene:112495", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GTF3C6", "equivalent_identifiers": ["NCBIGene:112495", "ENSEMBL:ENSG00000155115", "HGNC:20872", "OMIM:611784", "UMLS:C1427178", "UniProtKB:Q969F1", "PR:Q969F1", "ENSEMBL:ENSP00000357863", "ENSEMBL:ENSP00000357863.4", "UMLS:C2983094"], "information_content": 95.4}
{"id": "MONDO:0004616", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "herpetic whitlow", "equivalent_identifiers": ["MONDO:0004616", "DOID:8607", "UMLS:C0153042", "MEDDRA:10020005", "NCIT:C128402", "SNOMEDCT:43891009", "medgen:509122", "ICD9:054.6"], "information_content": 100.0}
{"id": "NCBIGene:5298", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PI4KB", "equivalent_identifiers": ["NCBIGene:5298", "ENSEMBL:ENSG00000143393", "HGNC:8984", "OMIM:602758", "UMLS:C1335216", "UniProtKB:A0A0B4J1S8", "ENSEMBL:ENSP00000357869", "ENSEMBL:ENSP00000357869.2", "UniProtKB:Q9UBF8", "PR:Q9UBF8", "UMLS:C5441752"]}
{"id": "UniProtKB:P45954-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "short/branched chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P45954-1", "PR:P45954-1", "ENSEMBL:ENSP00000357873", "ENSEMBL:ENSP00000357873.3"], "information_content": 100.0}
{"id": "NCBIGene:5710", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMD4", "equivalent_identifiers": ["NCBIGene:5710", "ENSEMBL:ENSG00000159352", "HGNC:9561", "OMIM:601648", "UMLS:C1419034", "UniProtKB:P55036", "PR:P55036", "UMLS:C0893577", "MESH:C498506", "UniProtKB:Q5VWC4", "PR:Q5VWC4", "ENSEMBL:ENSP00000357876", "ENSEMBL:ENSP00000357876.4"], "information_content": 100.0}
{"id": "NCBIGene:64376", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IKZF5", "equivalent_identifiers": ["NCBIGene:64376", "ENSEMBL:ENSG00000095574", "HGNC:14283", "OMIM:606238", "UMLS:C1825591", "UniProtKB:Q9H5V7", "PR:Q9H5V7", "ENSEMBL:ENSP00000357881", "ENSEMBL:ENSP00000357881.5", "ENSEMBL:ENSP00000478056", "ENSEMBL:ENSP00000478056.1", "UMLS:C1309750", "MESH:C418108"], "information_content": 92.8}
{"id": "UniProtKB:Q99755-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99755-1", "PR:Q99755-1", "ENSEMBL:ENSP00000357883", "ENSEMBL:ENSP00000357883.4"], "information_content": 100.0}
{"id": "NCBIGene:118670", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM24A", "equivalent_identifiers": ["NCBIGene:118670", "ENSEMBL:ENSG00000203795", "HGNC:23470", "UMLS:C1539407", "UniProtKB:A6NFZ4", "PR:A6NFZ4", "ENSEMBL:ENSP00000357889", "ENSEMBL:ENSP00000357889.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BWG6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium channel modifier 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWG6-1", "PR:Q9BWG6-1", "ENSEMBL:ENSP00000357901", "ENSEMBL:ENSP00000357901.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGM3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "scavenger receptor cysteine-rich domain-containing protein DMBT1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGM3-1", "PR:Q9UGM3-1", "ENSEMBL:ENSP00000357905", "ENSEMBL:ENSP00000357905.3", "ENSEMBL:ENSP00000484603", "ENSEMBL:ENSP00000484603.1", "ENSEMBL:ENSP00000498825", "ENSEMBL:ENSP00000498825.1"], "information_content": 100.0}
{"id": "NCBIGene:79626", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFAIP8L2", "equivalent_identifiers": ["NCBIGene:79626", "ENSEMBL:ENSG00000163154", "HGNC:26277", "OMIM:612112", "UMLS:C1823458", "UniProtKB:Q6P589", "PR:Q6P589", "ENSEMBL:ENSP00000357906", "ENSEMBL:ENSP00000357906.3", "UMLS:C2975187", "MESH:C552057"], "information_content": 95.4}
{"id": "UniProtKB:Q9BWU1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 19 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWU1-1", "PR:Q9BWU1-1", "ENSEMBL:ENSP00000357907", "ENSEMBL:ENSP00000357907.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3T2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "semaphorin-6C isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3T2-3", "PR:Q9H3T2-3", "ENSEMBL:ENSP00000357909", "ENSEMBL:ENSP00000357909.3"], "information_content": 100.0}
{"id": "MONDO:0012464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 10", "equivalent_identifiers": ["MONDO:0012464", "DOID:0111017", "OMIM:610283", "UMLS:C1846529", "MESH:C564597", "medgen:337598"], "information_content": 100.0}
{"id": "NCBIGene:126626", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABPB2", "equivalent_identifiers": ["NCBIGene:126626", "ENSEMBL:ENSG00000143458", "HGNC:28441", "OMIM:621284", "UMLS:C1876156", "UniProtKB:Q5SZG2", "ENSEMBL:ENSP00000357912", "ENSEMBL:ENSP00000357912.1", "UniProtKB:Q8TAK5", "PR:Q8TAK5", "ENSEMBL:ENSP00000357914", "ENSEMBL:ENSP00000357914.3"], "information_content": 100.0}
{"id": "MONDO:0001484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paranoid schizophrenia", "equivalent_identifiers": ["MONDO:0001484", "DOID:1229", "UMLS:C0036349", "UMLS:C0270398", "MESH:D012563", "MEDDRA:10033872", "MEDDRA:10033877", "MEDDRA:10033878", "MEDDRA:10033883", "MEDDRA:10039639", "NCIT:C35006", "SNOMEDCT:31658008", "SNOMEDCT:64905009", "medgen:20664", "ICD10:F20.0", "ICD9:295.3", "ICD9:295.32"], "information_content": 100.0}
{"id": "UniProtKB:Q86VW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 22 member 16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VW1-1", "PR:Q86VW1-1", "ENSEMBL:ENSP00000357915", "ENSEMBL:ENSP00000357915.3"], "information_content": 100.0}
{"id": "NCBIGene:10962", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MLLT11", "equivalent_identifiers": ["NCBIGene:10962", "ENSEMBL:ENSG00000213190", "HGNC:16997", "OMIM:604684", "UMLS:C1826257", "UniProtKB:Q13015", "PR:Q13015", "ENSEMBL:ENSP00000357917", "ENSEMBL:ENSP00000357917.3", "UMLS:C1430145", "UMLS:C3273390", "MESH:C091736", "UniProtKB:Q6FGF7"], "information_content": 100.0}
{"id": "UniProtKB:Q99489-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D-aspartate oxidase isoform DDO-1 (human)", "equivalent_identifiers": ["UniProtKB:Q99489-1", "PR:Q99489-1", "ENSEMBL:ENSP00000357920", "ENSEMBL:ENSP00000357920.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUN1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein MENT isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUN1-1", "PR:Q9BUN1-1", "ENSEMBL:ENSP00000357922", "ENSEMBL:ENSP00000357922.5"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z465-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z465-1", "PR:Q7Z465-1", "ENSEMBL:ENSP00000357927", "ENSEMBL:ENSP00000357927.3"], "information_content": 100.0}
{"id": "NCBIGene:8416", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANXA9", "equivalent_identifiers": ["NCBIGene:8416", "ENSEMBL:ENSG00000143412", "HGNC:547", "OMIM:603319", "UMLS:C1412428", "UniProtKB:O76027", "PR:O76027", "ENSEMBL:ENSP00000357943", "ENSEMBL:ENSP00000357943.4", "UMLS:C1384634", "MESH:C114643"], "information_content": 95.4}
{"id": "NCBIGene:246269", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AFG1L", "equivalent_identifiers": ["NCBIGene:246269", "ENSEMBL:ENSG00000135537", "HGNC:16411", "OMIM:617469", "UMLS:C1424259", "UniProtKB:Q8WV93", "PR:Q8WV93", "ENSEMBL:ENSP00000357973", "ENSEMBL:ENSP00000357973.3", "UMLS:C4277843", "MESH:C000609587"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y466-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor subfamily 2 group E member 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y466-2", "PR:Q9Y466-2", "ENSEMBL:ENSP00000357979", "ENSEMBL:ENSP00000357979.3"], "information_content": 100.0}
{"id": "NCBIGene:5654", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTRA1", "equivalent_identifiers": ["NCBIGene:5654", "ENSEMBL:ENSG00000166033", "HGNC:9476", "OMIM:602194", "UMLS:C1825552", "UniProtKB:Q92743", "PR:Q92743", "ENSEMBL:ENSP00000357980", "ENSEMBL:ENSP00000357980.3", "UMLS:C1258300", "MESH:C474012"], "information_content": 95.4}
{"id": "MONDO:0011785", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 19", "equivalent_identifiers": ["MONDO:0011785", "DOID:0110772", "OMIM:607152", "orphanet:100999", "UMLS:C1846685", "MESH:C536856", "SNOMEDCT:763375003", "medgen:335494"], "information_content": 100.0}
{"id": "UniProtKB:P25774-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cathepsin S isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P25774-1", "PR:P25774-1", "ENSEMBL:ENSP00000357981", "ENSEMBL:ENSP00000357981.3", "ENSEMBL:ENSP00000475176", "ENSEMBL:ENSP00000475176.2", "ENSEMBL:ENSP00000475557", "ENSEMBL:ENSP00000475557.2", "ENSEMBL:ENSP00000505359", "ENSEMBL:ENSP00000505359.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HB21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family A member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HB21-1", "PR:Q9HB21-1", "ENSEMBL:ENSP00000357986", "ENSEMBL:ENSP00000357986.3", "ENSEMBL:ENSP00000376547", "ENSEMBL:ENSP00000376547.3", "ENSEMBL:ENSP00000394416", "ENSEMBL:ENSP00000394416.1"], "information_content": 100.0}
{"id": "NCBIGene:11231", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEC63", "equivalent_identifiers": ["NCBIGene:11231", "ENSEMBL:ENSG00000025796", "HGNC:21082", "OMIM:608648", "UMLS:C1427303", "UniProtKB:A0A0S2Z5M1", "UMLS:C1453275", "MESH:C487464", "UniProtKB:Q9UGP8", "PR:Q9UGP8", "ENSEMBL:ENSP00000357998", "ENSEMBL:ENSP00000357998.4"], "information_content": 89.4}
{"id": "UniProtKB:O95359-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transforming acidic coiled-coil-containing protein 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O95359-4", "PR:O95359-4", "ENSEMBL:ENSP00000334280", "ENSEMBL:ENSP00000334280.2", "ENSEMBL:ENSP00000358001", "ENSEMBL:ENSP00000358001.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N228-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sex comb on midleg-like protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N228-1", "PR:Q8N228-1", "ENSEMBL:ENSP00000358016", "ENSEMBL:ENSP00000358016.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXX6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "non-structural maintenance of chromosomes element 4 homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXX6-1", "PR:Q9NXX6-1", "ENSEMBL:ENSP00000358019", "ENSEMBL:ENSP00000358019.3"], "information_content": 100.0}
{"id": "MONDO:0012762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "catecholaminergic polymorphic ventricular tachycardia 2", "equivalent_identifiers": ["MONDO:0012762", "DOID:0060676", "OMIM:611938", "UMLS:C2677794", "NCIT:C148368", "medgen:393837"], "information_content": 100.0}
{"id": "UniProtKB:Q07820-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "induced myeloid leukemia cell differentiation protein Mcl-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q07820-1", "PR:Q07820-1", "ENSEMBL:ENSP00000358022", "ENSEMBL:ENSP00000358022.2", "ENSEMBL:ENSP00000502859", "ENSEMBL:ENSP00000502859.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86YH6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "all trans-polyprenyl-diphosphate synthase PDSS2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YH6-1", "PR:Q86YH6-1", "ENSEMBL:ENSP00000358033", "ENSEMBL:ENSP00000358033.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6UY14-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADAMTS-like protein 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6UY14-3", "PR:Q6UY14-3", "ENSEMBL:ENSP00000358035", "ENSEMBL:ENSP00000358035.5", "ENSEMBL:ENSP00000501295", "ENSEMBL:ENSP00000501295.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0R6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0R6-1", "PR:Q9H0R6-1", "ENSEMBL:ENSP00000358042", "ENSEMBL:ENSP00000358042.4"], "information_content": 100.0}
{"id": "UniProtKB:Q16610-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "extracellular matrix protein 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q16610-4", "PR:Q16610-4", "ENSEMBL:ENSP00000358045", "ENSEMBL:ENSP00000358045.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWV3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reticulon-4-interacting protein 1, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWV3-1", "PR:Q8WWV3-1", "ENSEMBL:ENSP00000358059", "ENSEMBL:ENSP00000358059.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BW92-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "threonine--tRNA ligase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BW92-1", "PR:Q9BW92-1", "ENSEMBL:ENSP00000358060", "ENSEMBL:ENSP00000358060.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6Y8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SEC23-interacting protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6Y8-1", "PR:Q9Y6Y8-1", "ENSEMBL:ENSP00000358071", "ENSEMBL:ENSP00000358071.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H1Y0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "autophagy protein 5 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9H1Y0-1", "PR:Q9H1Y0-1", "ENSEMBL:ENSP00000343313", "ENSEMBL:ENSP00000343313.3", "ENSEMBL:ENSP00000358072", "ENSEMBL:ENSP00000358072.3"], "information_content": 100.0}
{"id": "NCBIGene:9531", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BAG3", "equivalent_identifiers": ["NCBIGene:9531", "ENSEMBL:ENSG00000151929", "HGNC:939", "OMIM:603883", "UMLS:C1412731", "UniProtKB:O95817", "PR:O95817", "ENSEMBL:ENSP00000358081", "ENSEMBL:ENSP00000358081.4", "UMLS:C1258175", "UMLS:C3816451", "MESH:C414431"], "information_content": 90.9}
{"id": "UniProtKB:Q01085-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolysin TIAR isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q01085-2", "PR:Q01085-2", "ENSEMBL:ENSP00000358089", "ENSEMBL:ENSP00000358089.2"], "information_content": 100.0}
{"id": "UniProtKB:O75626-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PR domain zinc finger protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75626-1", "PR:O75626-1", "ENSEMBL:ENSP00000358092", "ENSEMBL:ENSP00000358092.4"], "information_content": 100.0}
{"id": "UniProtKB:O43665-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 10 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:O43665-3", "PR:O43665-3", "ENSEMBL:ENSP00000358099", "ENSEMBL:ENSP00000358099.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96BI3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-secretase subunit APH-1A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BI3-1", "PR:Q96BI3-1", "ENSEMBL:ENSP00000358105", "ENSEMBL:ENSP00000358105.3"], "information_content": 100.0}
{"id": "NCBIGene:23632", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CA14", "equivalent_identifiers": ["NCBIGene:23632", "ENSEMBL:ENSG00000118298", "HGNC:1372", "OMIM:604832", "UMLS:C1413042", "UniProtKB:A8K3J4", "UniProtKB:Q9ULX7", "PR:Q9ULX7", "ENSEMBL:ENSP00000358107", "ENSEMBL:ENSP00000358107.3", "ENSEMBL:ENSP00000498013", "ENSEMBL:ENSP00000498013.1"], "information_content": 92.8}
{"id": "UniProtKB:Q53GL0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family O member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53GL0-1", "PR:Q53GL0-1", "ENSEMBL:ENSP00000358120", "ENSEMBL:ENSP00000358120.4"], "information_content": 100.0}
{"id": "UniProtKB:Q14152-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 3 subunit A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14152-1", "PR:Q14152-1", "ENSEMBL:ENSP00000358140", "ENSEMBL:ENSP00000358140.3"], "information_content": 100.0}
{"id": "UniProtKB:Q7L0J3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptic vesicle glycoprotein 2A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L0J3-1", "PR:Q7L0J3-1", "ENSEMBL:ENSP00000358142", "ENSEMBL:ENSP00000358142.3"], "information_content": 100.0}
{"id": "NCBIGene:51027", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BOLA1", "equivalent_identifiers": ["NCBIGene:51027", "ENSEMBL:ENSG00000178096", "HGNC:24263", "OMIM:613181", "UMLS:C1826626", "UniProtKB:Q9Y3E2", "PR:Q9Y3E2", "ENSEMBL:ENSP00000358146", "ENSEMBL:ENSP00000358146.1", "ENSEMBL:ENSP00000358148", "ENSEMBL:ENSP00000358148.5", "ENSEMBL:ENSP00000358149", "ENSEMBL:ENSP00000358149.1", "UMLS:C2605333", "MESH:C533595"], "information_content": 95.4}
{"id": "MONDO:0004767", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vesiculitis", "equivalent_identifiers": ["MONDO:0004767", "DOID:9365", "UMLS:C0042588", "MEDDRA:10039954", "NCIT:C12787", "SNOMEDCT:27001009", "medgen:508285", "ICD10:N49.0", "ICD9:608.0"], "information_content": 77.3}
{"id": "NCBIGene:8349", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BC21", "equivalent_identifiers": ["NCBIGene:8349", "ENSEMBL:ENSG00000184678", "HGNC:4760", "OMIM:601831", "UMLS:C5202831", "UniProtKB:Q16778", "PR:Q16778", "ENSEMBL:ENSP00000358151", "ENSEMBL:ENSP00000358151.2", "UMLS:C5202786"], "information_content": 81.3}
{"id": "UniProtKB:Q6FI13", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H2A2A_HUMAN Histone H2A type 2-A (sprot)", "equivalent_identifiers": ["UniProtKB:Q6FI13", "PR:Q6FI13", "ENSEMBL:ENSP00000358155", "ENSEMBL:ENSP00000358155.2", "ENSEMBL:ENSP00000475814", "ENSEMBL:ENSP00000475814.1", "UMLS:C5202682"], "information_content": 78.8}
{"id": "UniProtKB:Q8N3C0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "activating signal cointegrator 1 complex subunit 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3C0-1", "PR:Q8N3C0-1", "ENSEMBL:ENSP00000358159", "ENSEMBL:ENSP00000358159.2"], "information_content": 100.0}
{"id": "UniProtKB:P12314-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "high affinity immunoglobulin gamma Fc receptor I isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P12314-1", "PR:P12314-1", "ENSEMBL:ENSP00000358165", "ENSEMBL:ENSP00000358165.4"], "information_content": 100.0}
{"id": "UniProtKB:Q7L804-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab11 family-interacting protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7L804-2", "PR:Q7L804-2", "ENSEMBL:ENSP00000358200", "ENSEMBL:ENSP00000358200.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5SQQ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ventral anterior homeobox 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SQQ9-1", "PR:Q5SQQ9-1", "ENSEMBL:ENSP00000358207", "ENSEMBL:ENSP00000358207.4"], "information_content": 100.0}
{"id": "NCBIGene:6492", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIM1", "equivalent_identifiers": ["NCBIGene:6492", "ENSEMBL:ENSG00000112246", "HGNC:10882", "OMIM:603128", "UMLS:C1420067", "UniProtKB:P81133", "PR:P81133", "ENSEMBL:ENSP00000262901", "ENSEMBL:ENSP00000262901.4", "ENSEMBL:ENSP00000358210", "ENSEMBL:ENSP00000358210.4", "UMLS:C1455486", "UMLS:C2699302", "MESH:C491094"], "information_content": 100.0}
{"id": "NCBIGene:59336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRDM13", "equivalent_identifiers": ["NCBIGene:59336", "ENSEMBL:ENSG00000112238", "HGNC:13998", "OMIM:616741", "UMLS:C1422335", "UniProtKB:Q9H4Q3", "PR:Q9H4Q3", "ENSEMBL:ENSP00000358217", "ENSEMBL:ENSP00000358217.5", "UMLS:C4742565", "MESH:C000628518"], "information_content": 100.0}
{"id": "MONDO:0011957", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal macular dystrophy type 2", "equivalent_identifiers": ["MONDO:0011957", "DOID:0070517", "OMIM:608051", "orphanet:319640", "UMLS:C4749334", "MESH:C562746", "SNOMEDCT:770594005", "medgen:1666864"], "information_content": 100.0}
{"id": "NCBIGene:5406", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PNLIP", "equivalent_identifiers": ["NCBIGene:5406", "ENSEMBL:ENSG00000175535", "HGNC:9155", "OMIM:246600", "UMLS:C1418708", "UniProtKB:P16233", "PR:P16233", "ENSEMBL:ENSP00000358223", "ENSEMBL:ENSP00000358223.2", "UMLS:C1872737", "MESH:C518354"], "information_content": 92.8}
{"id": "UniProtKB:P0CG08", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GPHRB_HUMAN Golgi pH regulator B (sprot)", "equivalent_identifiers": ["UniProtKB:P0CG08", "PR:P0CG08", "ENSEMBL:ENSP00000358233", "ENSEMBL:ENSP00000358233.4"], "information_content": 100.0}
{"id": "NCBIGene:2703", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJA8", "equivalent_identifiers": ["NCBIGene:2703", "ENSEMBL:ENSG00000121634", "HGNC:4281", "OMIM:600897", "UMLS:C1415075", "UniProtKB:P48165", "PR:P48165", "ENSEMBL:ENSP00000358238", "ENSEMBL:ENSP00000358238.1", "UMLS:C1620214", "UniProtKB:X5D7G1"], "information_content": 92.8}
{"id": "NCBIGene:26235", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXL4", "equivalent_identifiers": ["NCBIGene:26235", "ENSEMBL:ENSG00000112234", "HGNC:13601", "OMIM:605654", "UMLS:C1422095", "UniProtKB:Q9UKA2", "PR:Q9UKA2", "ENSEMBL:ENSP00000229971", "ENSEMBL:ENSP00000229971.1", "ENSEMBL:ENSP00000358247", "ENSEMBL:ENSP00000358247.1", "UMLS:C5401444"], "information_content": 89.4}
{"id": "UniProtKB:Q5W0V3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FHF complex subunit HOOK interacting protein 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5W0V3-1", "PR:Q5W0V3-1", "ENSEMBL:ENSP00000358251", "ENSEMBL:ENSP00000358251.4"], "information_content": 100.0}
{"id": "MONDO:0009794", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orofaciodigital syndrome IV", "equivalent_identifiers": ["MONDO:0009794", "DOID:0060374", "OMIM:258860", "orphanet:2753", "UMLS:C0406727", "MESH:C537133", "SNOMEDCT:239031000", "medgen:98358"], "information_content": 100.0}
{"id": "UniProtKB:Q86WJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromodomain-helicase-DNA-binding protein 1-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WJ1-1", "PR:Q86WJ1-1", "ENSEMBL:ENSP00000358262", "ENSEMBL:ENSP00000358262.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96NJ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 32 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NJ5-1", "PR:Q96NJ5-1", "ENSEMBL:ENSP00000358265", "ENSEMBL:ENSP00000358265.4"], "information_content": 100.0}
{"id": "NCBIGene:29078", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFAF4", "equivalent_identifiers": ["NCBIGene:29078", "ENSEMBL:ENSG00000123545", "HGNC:21034", "OMIM:611776", "UMLS:C1427260", "UniProtKB:Q9P032", "PR:Q9P032", "ENSEMBL:ENSP00000358272", "ENSEMBL:ENSP00000358272.4", "UMLS:C1956566", "MESH:C519296"], "information_content": 95.4}
{"id": "UniProtKB:O94874-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 UFM1-protein ligase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94874-1", "PR:O94874-1", "ENSEMBL:ENSP00000358283", "ENSEMBL:ENSP00000358283.4"], "information_content": 100.0}
{"id": "UniProtKB:O95971-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD160 antigen isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95971-1", "PR:O95971-1", "ENSEMBL:ENSP00000235933", "ENSEMBL:ENSP00000235933.6", "ENSEMBL:ENSP00000358294", "ENSEMBL:ENSP00000358294.1"], "information_content": 100.0}
{"id": "NCBIGene:153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADRB1", "equivalent_identifiers": ["NCBIGene:153", "ENSEMBL:ENSG00000043591", "HGNC:285", "OMIM:109630", "UMLS:C1439273", "UniProtKB:P08588", "PR:P08588", "ENSEMBL:ENSP00000358301", "ENSEMBL:ENSP00000358301.2", "UMLS:C2932458", "MESH:C547787"], "information_content": 95.4}
{"id": "UniProtKB:Q8NBF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NHL repeat-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBF2-1", "PR:Q8NBF2-1", "ENSEMBL:ENSP00000358307", "ENSEMBL:ENSP00000358307.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15375-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin type-A receptor 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15375-1", "PR:Q15375-1", "ENSEMBL:ENSP00000358309", "ENSEMBL:ENSP00000358309.4"], "information_content": 100.0}
{"id": "UniProtKB:O75578-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin alpha-10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75578-1", "PR:O75578-1", "ENSEMBL:ENSP00000358310", "ENSEMBL:ENSP00000358310.3"], "information_content": 100.0}
{"id": "UniProtKB:O96011-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal membrane protein 11B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O96011-1", "PR:O96011-1", "ENSEMBL:ENSP00000358312", "ENSEMBL:ENSP00000358312.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5SXH7-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family S member 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q5SXH7-5", "PR:Q5SXH7-5", "ENSEMBL:ENSP00000358316", "ENSEMBL:ENSP00000358316.3"], "information_content": 100.0}
{"id": "NCBIGene:84265", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR3GL", "equivalent_identifiers": ["NCBIGene:84265", "ENSEMBL:ENSG00000121851", "HGNC:28466", "OMIM:617457", "UMLS:C1538700", "UniProtKB:A6NGX6", "ENSEMBL:ENSP00000358319", "ENSEMBL:ENSP00000358319.3", "UniProtKB:Q9BT43", "PR:Q9BT43", "ENSEMBL:ENSP00000358320", "ENSEMBL:ENSP00000358320.1"], "information_content": 95.4}
{"id": "NCBIGene:840", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CASP7", "equivalent_identifiers": ["NCBIGene:840", "ENSEMBL:ENSG00000165806", "HGNC:1508", "OMIM:601761", "UMLS:C1332666", "UniProtKB:A0A0A0MRL7", "ENSEMBL:ENSP00000358327", "ENSEMBL:ENSP00000358327.3", "UniProtKB:B4DWA2", "UniProtKB:P55210", "PR:P55210", "UMLS:C1307660", "MESH:C505520"]}
{"id": "UniProtKB:O43318-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 7 isoform h1B (human)", "equivalent_identifiers": ["UniProtKB:O43318-1", "PR:O43318-1", "ENSEMBL:ENSP00000358335", "ENSEMBL:ENSP00000358335.3"], "information_content": 100.0}
{"id": "NCBIGene:84694", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJA10", "equivalent_identifiers": ["NCBIGene:84694", "ENSEMBL:ENSG00000135355", "HGNC:16995", "OMIM:611924", "UMLS:C2678513", "UniProtKB:Q969M2", "PR:Q969M2", "ENSEMBL:ENSP00000358358", "ENSEMBL:ENSP00000358358.1", "ENSEMBL:ENSP00000500643", "ENSEMBL:ENSP00000500643.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5VU43-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myomegalin isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q5VU43-4", "PR:Q5VU43-4", "ENSEMBL:ENSP00000358363", "ENSEMBL:ENSP00000358363.4"], "information_content": 100.0}
{"id": "NCBIGene:4892", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NRAP", "equivalent_identifiers": ["NCBIGene:4892", "ENSEMBL:ENSG00000197893", "HGNC:7988", "OMIM:602873", "UMLS:C1417841", "UniProtKB:A0A0A0MRM2", "ENSEMBL:ENSP00000358365", "ENSEMBL:ENSP00000358365.4", "UMLS:C1447568", "MESH:C108533", "UniProtKB:Q86VF7", "PR:Q86VF7"]}
{"id": "UniProtKB:Q99590-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SCAF11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99590-1", "PR:Q99590-1", "ENSEMBL:ENSP00000358374", "ENSEMBL:ENSP00000358374.3"], "information_content": 100.0}
{"id": "NCBIGene:23195", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MDN1", "equivalent_identifiers": ["NCBIGene:23195", "ENSEMBL:ENSG00000112159", "HGNC:18302", "OMIM:618200", "UMLS:C1425432", "UniProtKB:Q9NU22", "PR:Q9NU22", "ENSEMBL:ENSP00000358400", "ENSEMBL:ENSP00000358400.3", "UMLS:C1610969", "MESH:C503949"], "information_content": 79.6}
{"id": "UniProtKB:Q9UKF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 30 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q9UKF2-1", "PR:Q9UKF2-1", "ENSEMBL:ENSP00000358407", "ENSEMBL:ENSP00000358407.1"], "information_content": 100.0}
{"id": "MONDO:0012831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 13", "equivalent_identifiers": ["MONDO:0012831", "DOID:0110893", "OMIM:612244", "UMLS:C2677101", "MESH:C567384", "medgen:394202"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6R6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyltransferase ZDHHC6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6R6-1", "PR:Q9H6R6-1", "ENSEMBL:ENSP00000358413", "ENSEMBL:ENSP00000358413.3", "ENSEMBL:ENSP00000507009", "ENSEMBL:ENSP00000507009.1", "ENSEMBL:ENSP00000507661", "ENSEMBL:ENSP00000507661.1"], "information_content": 100.0}
{"id": "MONDO:0011271", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rigid spine muscular dystrophy 1", "equivalent_identifiers": ["MONDO:0011271", "DOID:0110633", "OMIM:602771", "UMLS:C0410180", "NCIT:C126691", "SNOMEDCT:240063002", "medgen:98047", "ICD10:G71.8"], "information_content": 95.4}
{"id": "UniProtKB:P54868-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P54868-1", "PR:P54868-1", "ENSEMBL:ENSP00000358414", "ENSEMBL:ENSP00000358414.3"], "information_content": 100.0}
{"id": "NCBIGene:3283", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSD3B1", "equivalent_identifiers": ["NCBIGene:3283", "ENSEMBL:ENSG00000203857", "HGNC:5217", "OMIM:109715", "UMLS:C1415742", "UniProtKB:P14060", "PR:P14060", "ENSEMBL:ENSP00000358421", "ENSEMBL:ENSP00000358421.3", "ENSEMBL:ENSP00000432268", "ENSEMBL:ENSP00000432268.1", "UMLS:C3489584"], "information_content": 95.4}
{"id": "UniProtKB:Q9NQL2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related GTP-binding protein D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQL2-1", "PR:Q9NQL2-1", "ENSEMBL:ENSP00000358423", "ENSEMBL:ENSP00000358423.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96SF7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-box transcription factor TBX15 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96SF7-1", "PR:Q96SF7-1", "ENSEMBL:ENSP00000358437", "ENSEMBL:ENSP00000358437.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXN4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ganglioside-induced differentiation-associated protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXN4-1", "PR:Q9NXN4-1", "ENSEMBL:ENSP00000358451", "ENSEMBL:ENSP00000358451.4"], "information_content": 100.0}
{"id": "NCBIGene:54855", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TENT5C", "equivalent_identifiers": ["NCBIGene:54855", "ENSEMBL:ENSG00000183508", "HGNC:24712", "OMIM:613952", "UMLS:C1539445", "UniProtKB:Q5VWP2", "PR:Q5VWP2", "ENSEMBL:ENSP00000358458", "ENSEMBL:ENSP00000358458.3", "UMLS:C3272712", "UMLS:C4508019", "MESH:C000621065"], "information_content": 95.4}
{"id": "NCBIGene:1193", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLIC2", "equivalent_identifiers": ["NCBIGene:1193", "ENSEMBL:ENSG00000155962", "HGNC:2063", "OMIM:300138", "UMLS:C1413485", "UniProtKB:O15247", "PR:O15247", "ENSEMBL:ENSP00000358460", "ENSEMBL:ENSP00000358460.2", "UMLS:C1308292", "MESH:C108828"], "information_content": 92.8}
{"id": "UniProtKB:Q9UQ13-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat protein SHOC-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ13-1", "PR:Q9UQ13-1", "ENSEMBL:ENSP00000358464", "ENSEMBL:ENSP00000358464.5", "ENSEMBL:ENSP00000509273", "ENSEMBL:ENSP00000509273.1", "ENSEMBL:ENSP00000509686", "ENSEMBL:ENSP00000509686.1", "ENSEMBL:ENSP00000509754", "ENSEMBL:ENSP00000509754.1", "ENSEMBL:ENSP00000510210", "ENSEMBL:ENSP00000510210.1", "ENSEMBL:ENSP00000510554", "ENSEMBL:ENSP00000510554.1", "ENSEMBL:ENSP00000510639", "ENSEMBL:ENSP00000510639.1"], "information_content": 100.0}
{"id": "NCBIGene:116442", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB39B", "equivalent_identifiers": ["NCBIGene:116442", "ENSEMBL:ENSG00000155961", "HGNC:16499", "OMIM:300774", "UMLS:C1424331", "UniProtKB:Q96DA2", "PR:Q96DA2", "ENSEMBL:ENSP00000358466", "ENSEMBL:ENSP00000358466.3", "UMLS:C2932482", "MESH:C547812"], "information_content": 92.8}
{"id": "UniProtKB:Q7Z7D3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-set domain-containing T-cell activation inhibitor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z7D3-1", "PR:Q7Z7D3-1", "ENSEMBL:ENSP00000358470", "ENSEMBL:ENSP00000358470.3"], "information_content": 100.0}
{"id": "UniProtKB:P46736-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lys-63-specific deubiquitinase BRCC36 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P46736-1", "PR:P46736-1", "ENSEMBL:ENSP00000358474", "ENSEMBL:ENSP00000358474.1"], "information_content": 100.0}
{"id": "NCBIGene:9398", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD101", "equivalent_identifiers": ["NCBIGene:9398", "ENSEMBL:ENSG00000134256", "HGNC:5949", "OMIM:604516", "UMLS:C1416371", "UniProtKB:Q93033", "PR:Q93033", "ENSEMBL:ENSP00000256652", "ENSEMBL:ENSP00000256652.4", "ENSEMBL:ENSP00000358482", "ENSEMBL:ENSP00000358482.1", "ENSEMBL:ENSP00000508039", "ENSEMBL:ENSP00000508039.1"], "information_content": 95.4}
{"id": "UniProtKB:P56278-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein p13 MTCP-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P56278-1", "PR:P56278-1", "ENSEMBL:ENSP00000355058", "ENSEMBL:ENSP00000355058.2", "ENSEMBL:ENSP00000358488", "ENSEMBL:ENSP00000358488.3"], "information_content": 100.0}
{"id": "MONDO:0004948", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "B-cell chronic lymphocytic leukemia", "equivalent_identifiers": ["MONDO:0004948", "DOID:1040", "OMIM:151400", "orphanet:67038", "EFO:0000095", "UMLS:C0023434", "UMLS:C0855095", "MESH:D015451", "MEDDRA:10003908", "MEDDRA:10003909", "MEDDRA:10003910", "MEDDRA:10008956", "MEDDRA:10008957", "MEDDRA:10008958", "MEDDRA:10008960", "MEDDRA:10008976", "MEDDRA:10008993", "MEDDRA:10009310", "MEDDRA:10024295", "MEDDRA:10024340", "MEDDRA:10025302", "MEDDRA:10025306", "MEDDRA:10041138", "MEDDRA:10051812", "MEDDRA:10060391", "MEDDRA:10060576", "MEDDRA:10068852", "MEDDRA:10068919", "NCIT:C3163", "NCIT:C7540", "SNOMEDCT:277473004", "SNOMEDCT:302841002", "SNOMEDCT:51092000", "SNOMEDCT:64575004", "SNOMEDCT:92814006", "medgen:44120", "ICD10:C91.10", "ICD9:204.1", "HP:0005550"], "information_content": 72.1}
{"id": "MONDO:0004963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pre T-ALL", "equivalent_identifiers": ["MONDO:0004963", "DOID:5603", "EFO:0000209", "UMLS:C1961099", "MESH:D054218", "MEDDRA:10042987", "MEDDRA:10054655", "MEDDRA:10066105", "MEDDRA:10066110", "NCIT:C27261", "NCIT:C3183", "SNOMEDCT:128824003", "SNOMEDCT:277575008", "medgen:368378", "HP:0006727"], "information_content": 73.1}
{"id": "MONDO:0011772", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "B4GALT1-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0011772", "DOID:0070256", "OMIM:607091", "orphanet:79332", "UMLS:C2931009", "MESH:C535753", "SNOMEDCT:725587007", "medgen:419310"], "information_content": 100.0}
{"id": "NCBIGene:914", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD2", "equivalent_identifiers": ["NCBIGene:914", "ENSEMBL:ENSG00000116824", "HGNC:1639", "OMIM:186990", "UMLS:C1367475", "UniProtKB:P06729", "PR:P06729", "ENSEMBL:ENSP00000358490", "ENSEMBL:ENSP00000358490.3", "UMLS:C5441935", "UniProtKB:Q53F96"], "information_content": 90.9}
{"id": "UniProtKB:O75054-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "immunoglobulin superfamily member 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75054-2", "PR:O75054-2", "ENSEMBL:ENSP00000321184", "ENSEMBL:ENSP00000321184.6", "ENSEMBL:ENSP00000358495", "ENSEMBL:ENSP00000358495.1"], "information_content": 100.0}
{"id": "MONDO:0004927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dacryocystocele", "equivalent_identifiers": ["MONDO:0004927", "DOID:9939", "UMLS:C0155241", "MEDDRA:10023634", "MEDDRA:10060869", "MEDDRA:10082947", "MEDDRA:10083192", "NCIT:C98968", "SNOMEDCT:42758002", "medgen:472901", "ICD9:375.43", "HP:0030752"], "information_content": 100.0}
{"id": "UniProtKB:P56277-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Cx9C motif-containing protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P56277-1", "PR:P56277-1", "ENSEMBL:ENSP00000358491", "ENSEMBL:ENSP00000358491.1", "ENSEMBL:ENSP00000358496", "ENSEMBL:ENSP00000358496.3"], "information_content": 100.0}
{"id": "MONDO:0008872", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephalic osteodysplastic primordial dwarfism type II", "equivalent_identifiers": ["MONDO:0008872", "DOID:0060609", "OMIM:210720", "orphanet:2637", "UMLS:C0432246", "MESH:C565898", "SNOMEDCT:1208348002", "SNOMEDCT:254103003", "medgen:96587"], "information_content": 100.0}
{"id": "MONDO:0850415", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhabdomyolysis-myalgia syndrome", "equivalent_identifiers": ["MONDO:0850415", "DOID:0080992"], "information_content": 100.0}
{"id": "MONDO:0019468", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "T-cell prolymphocytic leukemia", "equivalent_identifiers": ["MONDO:0019468", "DOID:0081042", "orphanet:86871", "EFO:1000560", "UMLS:C0023494", "UMLS:C2363142", "MESH:D015461", "MEDDRA:10024298", "MEDDRA:10042970", "MEDDRA:10042985", "MEDDRA:10042986", "MEDDRA:10054654", "NCIT:C4752", "NCIT:C70649", "SNOMEDCT:128821006", "SNOMEDCT:277545003", "SNOMEDCT:277567002", "medgen:391707", "icd11.foundation:352523899"], "information_content": 87.2}
{"id": "UniProtKB:O60942-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mRNA-capping enzyme isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60942-1", "PR:O60942-1", "ENSEMBL:ENSP00000358497", "ENSEMBL:ENSP00000358497.4"], "information_content": 100.0}
{"id": "UniProtKB:P19256-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphocyte function-associated antigen 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P19256-1", "PR:P19256-1", "ENSEMBL:ENSP00000358501", "ENSEMBL:ENSP00000358501.5"], "information_content": 100.0}
{"id": "NCBIGene:65991", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FUNDC2", "equivalent_identifiers": ["NCBIGene:65991", "ENSEMBL:ENSG00000165775", "HGNC:24925", "OMIM:301042", "UMLS:C1539540", "UniProtKB:Q9BWH2", "PR:Q9BWH2", "ENSEMBL:ENSP00000358510", "ENSEMBL:ENSP00000358510.3"], "information_content": 95.4}
{"id": "NCBIGene:126868", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAB21L3", "equivalent_identifiers": ["NCBIGene:126868", "ENSEMBL:ENSG00000173212", "HGNC:26787", "UMLS:C1823777", "UniProtKB:Q8N8X9", "PR:Q8N8X9", "ENSEMBL:ENSP00000358512", "ENSEMBL:ENSP00000358512.3", "ENSEMBL:ENSP00000506754", "ENSEMBL:ENSP00000506754.1", "ENSEMBL:ENSP00000508049", "ENSEMBL:ENSP00000508049.1"], "information_content": 92.8}
{"id": "MONDO:0009614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic aciduria, cblB type", "equivalent_identifiers": ["MONDO:0009614", "DOID:0060743", "OMIM:251110", "orphanet:79311", "EFO:0009074", "UMLS:C1855102", "MESH:C537361", "NCIT:C142172", "medgen:344420"], "information_content": 100.0}
{"id": "UniProtKB:P21554-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cannabinoid receptor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P21554-1", "PR:P21554-1", "ENSEMBL:ENSP00000358511", "ENSEMBL:ENSP00000358511.2", "ENSEMBL:ENSP00000358513", "ENSEMBL:ENSP00000358513.2", "ENSEMBL:ENSP00000412192", "ENSEMBL:ENSP00000412192.2", "ENSEMBL:ENSP00000446702", "ENSEMBL:ENSP00000446702.2", "ENSEMBL:ENSP00000446819", "ENSEMBL:ENSP00000446819.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZD6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 22 member 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZD6-1", "PR:Q8IZD6-1", "ENSEMBL:ENSP00000358515", "ENSEMBL:ENSP00000358515.4"], "information_content": 100.0}
{"id": "UniProtKB:P23610", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HAP40_HUMAN 40-kDa huntingtin-associated protein (sprot)", "equivalent_identifiers": ["UniProtKB:P23610", "PR:P23610", "ENSEMBL:ENSP00000358518", "ENSEMBL:ENSP00000358518.3", "ENSEMBL:ENSP00000477530", "ENSEMBL:ENSP00000477530.2", "ENSEMBL:ENSP00000479624", "ENSEMBL:ENSP00000479624.1"], "information_content": 95.4}
{"id": "MONDO:0007848", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant keratitis", "equivalent_identifiers": ["MONDO:0007848", "DOID:0111383", "OMIM:148190", "orphanet:2334", "UMLS:C1835698", "MESH:C537022", "SNOMEDCT:715339004", "medgen:332039", "icd11.foundation:682617640"], "information_content": 100.0}
{"id": "NCBIGene:4808", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NHLH2", "equivalent_identifiers": ["NCBIGene:4808", "ENSEMBL:ENSG00000177551", "HGNC:7818", "OMIM:162361", "UMLS:C1417723", "UniProtKB:Q02577", "PR:Q02577", "ENSEMBL:ENSP00000322087", "ENSEMBL:ENSP00000322087.3", "ENSEMBL:ENSP00000358519", "ENSEMBL:ENSP00000358519.1", "UMLS:C1429769", "MESH:C076747"], "information_content": 95.4}
{"id": "NCBIGene:4803", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NGF", "equivalent_identifiers": ["NCBIGene:4803", "ENSEMBL:ENSG00000134259", "HGNC:7808", "OMIM:162030", "UMLS:C1417719", "UniProtKB:A0A346FYQ1", "UniProtKB:P01138", "PR:P01138", "ENSEMBL:ENSP00000358525", "ENSEMBL:ENSP00000358525.2", "ENSEMBL:ENSP00000502380", "ENSEMBL:ENSP00000502380.1", "ENSEMBL:ENSP00000502831", "ENSEMBL:ENSP00000502831.1", "ENSEMBL:ENSP00000505558", "ENSEMBL:ENSP00000505558.1", "ENSEMBL:ENSP00000505694", "ENSEMBL:ENSP00000505694.1", "ENSEMBL:ENSP00000506492", "ENSEMBL:ENSP00000506492.1", "ENSEMBL:ENSP00000506569", "ENSEMBL:ENSP00000506569.1", "UMLS:C1571151", "MESH:C502240"], "information_content": 90.9}
{"id": "UniProtKB:O60636-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetraspanin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60636-1", "PR:O60636-1", "ENSEMBL:ENSP00000358529", "ENSEMBL:ENSP00000358529.2"], "information_content": 100.0}
{"id": "MONDO:0005705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "clonorchiasis", "equivalent_identifiers": ["MONDO:0005705", "DOID:13767", "orphanet:658917", "EFO:0007210", "UMLS:C0009021", "MESH:D003003", "MEDDRA:10009344", "MEDDRA:10009345", "SNOMEDCT:11938002", "medgen:3119", "icd11.foundation:918986134", "ICD10:B66.1", "ICD9:121.1"], "information_content": 100.0}
{"id": "NCBIGene:282996", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBM20", "equivalent_identifiers": ["NCBIGene:282996", "ENSEMBL:ENSG00000203867", "HGNC:27424", "OMIM:613171", "UMLS:C1428654", "UniProtKB:Q5T481", "PR:Q5T481", "ENSEMBL:ENSP00000358532", "ENSEMBL:ENSP00000358532.3", "ENSEMBL:ENSP00000520684", "ENSEMBL:ENSP00000520684.1", "UMLS:C2743286", "MESH:C543725"], "information_content": 95.4}
{"id": "NCBIGene:6847", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYCP1", "equivalent_identifiers": ["NCBIGene:6847", "ENSEMBL:ENSG00000198765", "HGNC:11487", "OMIM:602162", "UMLS:C1420537", "UniProtKB:A0A024R0I2", "UniProtKB:A0A087WZC3", "ENSEMBL:ENSP00000482532", "ENSEMBL:ENSP00000482532.1", "UniProtKB:B7ZLS9", "UniProtKB:Q15431", "PR:Q15431", "ENSEMBL:ENSP00000358531", "ENSEMBL:ENSP00000358531.1", "ENSEMBL:ENSP00000358535", "ENSEMBL:ENSP00000358535.3", "ENSEMBL:ENSP00000480997", "ENSEMBL:ENSP00000480997.1", "UMLS:C1313659", "MESH:C489753"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRV8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "suppressor of IKBKE 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRV8-2", "PR:Q9BRV8-2", "ENSEMBL:ENSP00000358541", "ENSEMBL:ENSP00000358541.5"], "information_content": 100.0}
{"id": "NCBIGene:100132963", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM9", "equivalent_identifiers": ["NCBIGene:100132963", "ENSEMBL:ENSG00000203870", "HGNC:41915", "UMLS:C3543510", "UniProtKB:A6NGZ8", "PR:A6NGZ8", "ENSEMBL:ENSP00000358542", "ENSEMBL:ENSP00000358542.1"], "information_content": 100.0}
{"id": "UniProtKB:Q00013-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "55 kDa erythrocyte membrane protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q00013-1", "PR:Q00013-1", "ENSEMBL:ENSP00000358547", "ENSEMBL:ENSP00000358547.3"], "information_content": 100.0}
{"id": "NCBIGene:4893", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NRAS", "equivalent_identifiers": ["NCBIGene:4893", "ENSEMBL:ENSG00000213281", "HGNC:7989", "OMIM:164790", "UMLS:C0809246", "UniProtKB:P01111", "PR:P01111", "ENSEMBL:ENSP00000358548", "ENSEMBL:ENSP00000358548.4", "UMLS:C3657629", "MESH:C579846", "UniProtKB:Q5U091"], "information_content": 90.9}
{"id": "NCBIGene:57038", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RARS2", "equivalent_identifiers": ["NCBIGene:57038", "ENSEMBL:ENSG00000146282", "HGNC:21406", "OMIM:611524", "UMLS:C1427551", "UniProtKB:A0A8I5KPZ0", "ENSEMBL:ENSP00000509147", "ENSEMBL:ENSP00000509147.1", "UMLS:C4077622", "MESH:C000604250", "UniProtKB:A0A8I5KWC6", "ENSEMBL:ENSP00000509453", "ENSEMBL:ENSP00000509453.1", "UniProtKB:H0UI22", "ENSEMBL:ENSP00000509026", "ENSEMBL:ENSP00000509026.1", "ENSEMBL:ENSP00000509195", "ENSEMBL:ENSP00000509195.1", "ENSEMBL:ENSP00000509712", "ENSEMBL:ENSP00000509712.1", "ENSEMBL:ENSP00000510542", "ENSEMBL:ENSP00000510542.1", "UniProtKB:Q5T160", "PR:Q5T160", "ENSEMBL:ENSP00000358549", "ENSEMBL:ENSP00000358549.5"], "information_content": 90.9}
{"id": "NCBIGene:10286", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCAS2", "equivalent_identifiers": ["NCBIGene:10286", "ENSEMBL:ENSG00000116752", "HGNC:975", "OMIM:605783", "UMLS:C1332388", "UniProtKB:B2R7W3", "UMLS:C0907998", "MESH:C120624", "UniProtKB:O75934", "PR:O75934", "ENSEMBL:ENSP00000358554", "ENSEMBL:ENSP00000358554.3", "UMLS:C1332620"], "information_content": 90.9}
{"id": "UniProtKB:O60832-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H/ACA ribonucleoprotein complex subunit DKC1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60832-1", "PR:O60832-1", "ENSEMBL:ENSP00000358563", "ENSEMBL:ENSP00000358563.5"], "information_content": 100.0}
{"id": "UniProtKB:P78382-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CMP-sialic acid transporter isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78382-1", "PR:P78382-1", "ENSEMBL:ENSP00000358565", "ENSEMBL:ENSP00000358565.4"], "information_content": 100.0}
{"id": "NCBIGene:154313", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP206", "equivalent_identifiers": ["NCBIGene:154313", "ENSEMBL:ENSG00000272514", "HGNC:21405", "UMLS:C1427550", "UniProtKB:Q8IYR0", "PR:Q8IYR0", "ENSEMBL:ENSP00000358575", "ENSEMBL:ENSP00000358575.4", "UniProtKB:Q8N771"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6B7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-4 complex subunit beta-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6B7-1", "PR:Q9Y6B7-1", "ENSEMBL:ENSP00000256658", "ENSEMBL:ENSP00000256658.4", "ENSEMBL:ENSP00000358582", "ENSEMBL:ENSP00000358582.1", "ENSEMBL:ENSP00000358584", "ENSEMBL:ENSP00000358584.3", "ENSEMBL:ENSP00000518886", "ENSEMBL:ENSP00000518886.1", "ENSEMBL:ENSP00000518947", "ENSEMBL:ENSP00000518947.1"], "information_content": 100.0}
{"id": "UniProtKB:O60281-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 292 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60281-1", "PR:O60281-1", "ENSEMBL:ENSP00000358590", "ENSEMBL:ENSP00000358590.3"], "information_content": 100.0}
{"id": "NCBIGene:1847", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUSP5", "equivalent_identifiers": ["NCBIGene:1847", "ENSEMBL:ENSG00000138166", "HGNC:3071", "OMIM:603069", "UMLS:C1414186", "UniProtKB:Q16690", "PR:Q16690", "ENSEMBL:ENSP00000358596", "ENSEMBL:ENSP00000358596.3", "UMLS:C1432368", "MESH:C442320"], "information_content": 90.9}
{"id": "NCBIGene:10285", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMNDC1", "equivalent_identifiers": ["NCBIGene:10285", "ENSEMBL:ENSG00000119953", "HGNC:16900", "OMIM:603519", "UMLS:C1424623", "UniProtKB:O75940", "PR:O75940", "ENSEMBL:ENSP00000358605", "ENSEMBL:ENSP00000358605.1", "ENSEMBL:ENSP00000358616", "ENSEMBL:ENSP00000358616.4", "UMLS:C0754071", "MESH:C526478"], "information_content": 89.4}
{"id": "UniProtKB:O60506-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein Q isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60506-1", "PR:O60506-1", "ENSEMBL:ENSP00000358635", "ENSEMBL:ENSP00000358635.3", "ENSEMBL:ENSP00000503783", "ENSEMBL:ENSP00000503783.1", "ENSEMBL:ENSP00000504706", "ENSEMBL:ENSP00000504706.1"], "information_content": 100.0}
{"id": "NCBIGene:9096", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBX18", "equivalent_identifiers": ["NCBIGene:9096", "ENSEMBL:ENSG00000112837", "HGNC:11595", "OMIM:604613", "UMLS:C1420606", "UniProtKB:O95935", "PR:O95935", "ENSEMBL:ENSP00000358677", "ENSEMBL:ENSP00000358677.4"], "information_content": 100.0}
{"id": "NCBIGene:51167", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYB5R4", "equivalent_identifiers": ["NCBIGene:51167", "ENSEMBL:ENSG00000065615", "HGNC:20147", "OMIM:608343", "UMLS:C1824844", "UniProtKB:Q7L1T6", "PR:Q7L1T6", "ENSEMBL:ENSP00000358695", "ENSEMBL:ENSP00000358695.3"], "information_content": 90.9}
{"id": "NCBIGene:55558", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLXNA3", "equivalent_identifiers": ["NCBIGene:55558", "ENSEMBL:ENSG00000130827", "HGNC:9101", "OMIM:300022", "UMLS:C1418662", "UniProtKB:P51805", "PR:P51805", "ENSEMBL:ENSP00000358696", "ENSEMBL:ENSP00000358696.3", "UMLS:C1430378", "MESH:C097871"], "information_content": 88.2}
{"id": "UniProtKB:Q93097-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Wnt-2b isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q93097-1", "PR:Q93097-1", "ENSEMBL:ENSP00000358698", "ENSEMBL:ENSP00000358698.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5TAB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ripply2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TAB7-1", "PR:Q5TAB7-1", "ENSEMBL:ENSP00000358703", "ENSEMBL:ENSP00000358703.1"], "information_content": 100.0}
{"id": "MONDO:0003124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular Leydig cell tumor", "equivalent_identifiers": ["MONDO:0003124", "DOID:4756", "EFO:1000569", "UMLS:C0863027", "MEDDRA:10024407", "MEDDRA:10062464", "NCIT:C6356", "SNOMEDCT:67871000119105", "medgen:163584"], "information_content": 95.4}
{"id": "NCBIGene:167681", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS35", "equivalent_identifiers": ["NCBIGene:167681", "ENSEMBL:ENSG00000146250", "HGNC:21387", "UMLS:C1538730", "UniProtKB:Q8N3Z0", "PR:Q8N3Z0", "ENSEMBL:ENSP00000358714", "ENSEMBL:ENSP00000358714.3", "UMLS:C2976745", "MESH:C552271"], "information_content": 100.0}
{"id": "NCBIGene:22986", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SORCS3", "equivalent_identifiers": ["NCBIGene:22986", "ENSEMBL:ENSG00000156395", "HGNC:16699", "OMIM:606285", "UMLS:C1539805", "UniProtKB:Q86XB2", "UniProtKB:Q9UPU3", "PR:Q9UPU3", "ENSEMBL:ENSP00000358715", "ENSEMBL:ENSP00000358715.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9UHI6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable ATP-dependent RNA helicase DDX20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHI6-1", "PR:Q9UHI6-1", "ENSEMBL:ENSP00000358716", "ENSEMBL:ENSP00000358716.4", "ENSEMBL:ENSP00000505857", "ENSEMBL:ENSP00000505857.1"], "information_content": 100.0}
{"id": "NCBIGene:159686", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP58", "equivalent_identifiers": ["NCBIGene:159686", "ENSEMBL:ENSG00000120051", "HGNC:26676", "OMIM:619129", "UMLS:C1428618", "UniProtKB:Q5T655", "PR:Q5T655", "ENSEMBL:ENSP00000358718", "ENSEMBL:ENSP00000358718.3"], "information_content": 95.4}
{"id": "UniProtKB:P48163-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADP-dependent malic enzyme isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48163-1", "PR:P48163-1", "ENSEMBL:ENSP00000358719", "ENSEMBL:ENSP00000358719.3"], "information_content": 100.0}
{"id": "NCBIGene:5906", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAP1A", "equivalent_identifiers": ["NCBIGene:5906", "ENSEMBL:ENSG00000116473", "HGNC:9855", "OMIM:179520", "UMLS:C1335590", "UniProtKB:A8KAH9", "UniProtKB:P62834", "PR:P62834", "ENSEMBL:ENSP00000348786", "ENSEMBL:ENSP00000348786.1", "ENSEMBL:ENSP00000358723", "ENSEMBL:ENSP00000358723.3", "ENSEMBL:ENSP00000509234", "ENSEMBL:ENSP00000509234.1", "UMLS:C0967718", "MESH:C430803"], "information_content": 95.4}
{"id": "UniProtKB:P78417-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione S-transferase omega-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P78417-1", "PR:P78417-1", "ENSEMBL:ENSP00000358727", "ENSEMBL:ENSP00000358727.5"], "information_content": 100.0}
{"id": "NCBIGene:515", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP5PB", "equivalent_identifiers": ["NCBIGene:515", "ENSEMBL:ENSG00000116459", "HGNC:840", "OMIM:603270", "UMLS:C1412661", "UniProtKB:P24539", "PR:P24539", "ENSEMBL:ENSP00000358737", "ENSEMBL:ENSP00000358737.3"], "information_content": 90.9}
{"id": "UniProtKB:Q9UIY3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RWD domain-containing protein 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIY3-1", "PR:Q9UIY3-1", "ENSEMBL:ENSP00000358739", "ENSEMBL:ENSP00000358739.3"], "information_content": 100.0}
{"id": "MONDO:0006059", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nasal cavity squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0006059", "DOID:5515", "EFO:1000057", "UMLS:C0280333", "MEDDRA:10041856", "NCIT:C8192", "medgen:79104"], "information_content": 89.4}
{"id": "MONDO:0012683", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 6", "equivalent_identifiers": ["MONDO:0012683", "DOID:0060275", "OMIM:611523", "orphanet:166073", "UMLS:C1969084", "MESH:C548074", "SNOMEDCT:718606005", "medgen:370596", "icd11.foundation:1612653027"], "information_content": 100.0}
{"id": "NCBIGene:5016", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OVGP1", "equivalent_identifiers": ["NCBIGene:5016", "ENSEMBL:ENSG00000085465", "HGNC:8524", "OMIM:603578", "UMLS:C1418204", "UniProtKB:Q12889", "PR:Q12889", "ENSEMBL:ENSP00000358747", "ENSEMBL:ENSP00000358747.3", "UMLS:C0906452", "MESH:C091468", "UniProtKB:Q86YN0"], "information_content": 95.4}
{"id": "UniProtKB:Q8TCI5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ciliary microtubule-associated protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCI5-1", "PR:Q8TCI5-1", "ENSEMBL:ENSP00000358753", "ENSEMBL:ENSP00000358753.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZP6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acidic mammalian chitinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZP6-1", "PR:Q9BZP6-1", "ENSEMBL:ENSP00000341828", "ENSEMBL:ENSP00000341828.6", "ENSEMBL:ENSP00000358755", "ENSEMBL:ENSP00000358755.1"], "information_content": 100.0}
{"id": "NCBIGene:90025", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE3D", "equivalent_identifiers": ["NCBIGene:90025", "ENSEMBL:ENSG00000118420", "HGNC:21381", "OMIM:612495", "UMLS:C1427527", "UniProtKB:D6RD24", "ENSEMBL:ENSP00000427101", "ENSEMBL:ENSP00000427101.1", "UniProtKB:Q4G0J6", "UMLS:C1611914", "MESH:C502845", "UniProtKB:Q4G0X5", "ENSEMBL:ENSP00000422755", "ENSEMBL:ENSP00000422755.1", "ENSEMBL:ENSP00000487457", "ENSEMBL:ENSP00000487457.1", "UniProtKB:Q7Z6J8", "PR:Q7Z6J8", "ENSEMBL:ENSP00000358762", "ENSEMBL:ENSP00000358762.3"], "information_content": 95.4}
{"id": "NCBIGene:7162", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPBG", "equivalent_identifiers": ["NCBIGene:7162", "ENSEMBL:ENSG00000146242", "HGNC:12004", "OMIM:190920", "UMLS:C1420868", "UniProtKB:Q13641", "PR:Q13641", "ENSEMBL:ENSP00000358765", "ENSEMBL:ENSP00000358765.4", "ENSEMBL:ENSP00000440049", "ENSEMBL:ENSP00000440049.1", "ENSEMBL:ENSP00000441219", "ENSEMBL:ENSP00000441219.1", "ENSEMBL:ENSP00000489140", "ENSEMBL:ENSP00000489140.1", "ENSEMBL:ENSP00000489143", "ENSEMBL:ENSP00000489143.1", "ENSEMBL:ENSP00000489447", "ENSEMBL:ENSP00000489447.1", "UMLS:C1437272", "MESH:C063709"], "information_content": 92.8}
{"id": "MONDO:0012117", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ALG9-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0012117", "DOID:0080564", "OMIM:608776", "orphanet:79328", "UMLS:C2931006", "MESH:C535750", "SNOMEDCT:720978005", "medgen:443955"], "information_content": 95.4}
{"id": "NCBIGene:537", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP6AP1", "equivalent_identifiers": ["NCBIGene:537", "ENSEMBL:ENSG00000071553", "HGNC:868", "OMIM:300197", "UMLS:C1412687", "UniProtKB:A0A384MQW4", "UMLS:C1435858", "MESH:C089598", "UniProtKB:Q15904", "PR:Q15904", "ENSEMBL:ENSP00000358777", "ENSEMBL:ENSP00000358777.2", "UMLS:C3811804"], "information_content": 85.5}
{"id": "UniProtKB:Q5T3J3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ligand-dependent nuclear receptor-interacting factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T3J3-1", "PR:Q5T3J3-1", "ENSEMBL:ENSP00000358778", "ENSEMBL:ENSP00000358778.4"], "information_content": 100.0}
{"id": "NCBIGene:2832", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPBWR2", "equivalent_identifiers": ["NCBIGene:2832", "ENSEMBL:ENSG00000125522", "HGNC:4530", "OMIM:600731", "UMLS:C1826462", "UniProtKB:P48146", "PR:P48146", "ENSEMBL:ENSP00000358783", "ENSEMBL:ENSP00000358783.1", "ENSEMBL:ENSP00000484253", "ENSEMBL:ENSP00000484253.1", "ENSEMBL:ENSP00000508236", "ENSEMBL:ENSP00000508236.1", "UMLS:C1438609", "MESH:C401923"], "information_content": 100.0}
{"id": "UniProtKB:P22001-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium voltage-gated channel subfamily A member 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P22001-1", "PR:P22001-1", "ENSEMBL:ENSP00000358784", "ENSEMBL:ENSP00000358784.2", "ENSEMBL:ENSP00000513296", "ENSEMBL:ENSP00000513296.1", "ENSEMBL:ENSP00000513297", "ENSEMBL:ENSP00000513297.1", "ENSEMBL:ENSP00000513298", "ENSEMBL:ENSP00000513298.1", "ENSEMBL:ENSP00000513300", "ENSEMBL:ENSP00000513300.1"], "information_content": 92.8}
{"id": "NCBIGene:3744", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNA10", "equivalent_identifiers": ["NCBIGene:3744", "ENSEMBL:ENSG00000143105", "HGNC:6219", "OMIM:602420", "UMLS:C1416544", "UniProtKB:Q16322", "PR:Q16322", "ENSEMBL:ENSP00000358786", "ENSEMBL:ENSP00000358786.2", "UMLS:C1137654", "MESH:C460019"], "information_content": 95.4}
{"id": "UniProtKB:O15374-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "monocarboxylate transporter 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15374-1", "PR:O15374-1", "ENSEMBL:ENSP00000358794", "ENSEMBL:ENSP00000358794.4"], "information_content": 100.0}
{"id": "UniProtKB:O76050-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase NEURL1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O76050-1", "PR:O76050-1", "ENSEMBL:ENSP00000358795", "ENSEMBL:ENSP00000358795.4"], "information_content": 100.0}
{"id": "NCBIGene:119395", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CALHM3", "equivalent_identifiers": ["NCBIGene:119395", "ENSEMBL:ENSG00000183128", "HGNC:23458", "OMIM:618263", "UMLS:C1539416", "UniProtKB:Q86XJ0", "PR:Q86XJ0", "ENSEMBL:ENSP00000358798", "ENSEMBL:ENSP00000358798.4", "UMLS:C5891115"], "information_content": 100.0}
{"id": "UniProtKB:Q96T37-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96T37-1", "PR:Q96T37-1", "ENSEMBL:ENSP00000358799", "ENSEMBL:ENSP00000358799.3", "ENSEMBL:ENSP00000483133", "ENSEMBL:ENSP00000483133.1"], "information_content": 100.0}
{"id": "UniProtKB:Q03721-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated potassium channel KCNC4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q03721-1", "PR:Q03721-1", "ENSEMBL:ENSP00000358802", "ENSEMBL:ENSP00000358802.3", "ENSEMBL:ENSP00000436656", "ENSEMBL:ENSP00000436656.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5VSL9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "striatin-interacting protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VSL9-1", "PR:Q5VSL9-1", "ENSEMBL:ENSP00000358810", "ENSEMBL:ENSP00000358810.3"], "information_content": 100.0}
{"id": "NCBIGene:22984", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDCD11", "equivalent_identifiers": ["NCBIGene:22984", "ENSEMBL:ENSG00000148843", "HGNC:13408", "OMIM:612333", "UMLS:C1421977", "UniProtKB:A0A3B3IUD7", "ENSEMBL:ENSP00000498205", "ENSEMBL:ENSP00000498205.1", "UniProtKB:Q14690", "PR:Q14690", "ENSEMBL:ENSP00000358812", "ENSEMBL:ENSP00000358812.3", "UMLS:C1611930", "MESH:C502966"], "information_content": 85.5}
{"id": "UniProtKB:P33981-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein kinase TTK isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P33981-1", "PR:P33981-1", "ENSEMBL:ENSP00000358813", "ENSEMBL:ENSP00000358813.2"], "information_content": 100.0}
{"id": "UniProtKB:O43865-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "S-adenosylhomocysteine hydrolase-like protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43865-1", "PR:O43865-1", "ENSEMBL:ENSP00000358814", "ENSEMBL:ENSP00000358814.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8TE67-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epidermal growth factor receptor kinase substrate 8-like protein 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8TE67-3", "PR:Q8TE67-3", "ENSEMBL:ENSP00000358820", "ENSEMBL:ENSP00000358820.3"], "information_content": 100.0}
{"id": "NCBIGene:1774", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNASE1L1", "equivalent_identifiers": ["NCBIGene:1774", "ENSEMBL:ENSG00000013563", "HGNC:2957", "OMIM:300081", "UMLS:C1414108", "UniProtKB:P49184", "PR:P49184", "ENSEMBL:ENSP00000014935", "ENSEMBL:ENSP00000014935.3", "ENSEMBL:ENSP00000309168", "ENSEMBL:ENSP00000309168.5", "ENSEMBL:ENSP00000358822", "ENSEMBL:ENSP00000358822.1", "ENSEMBL:ENSP00000358823", "ENSEMBL:ENSP00000358823.3", "ENSEMBL:ENSP00000358824", "ENSEMBL:ENSP00000358824.1", "ENSEMBL:ENSP00000377255", "ENSEMBL:ENSP00000377255.1", "UMLS:C1430361", "MESH:C097585"], "information_content": 92.8}
{"id": "MONDO:0009290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease II", "equivalent_identifiers": ["MONDO:0009290", "DOID:2752", "OMIM:232300", "orphanet:365", "UMLS:C0017921", "UMLS:C2931347", "MESH:C536839", "MESH:D006009", "MEDDRA:10036143", "MEDDRA:10045253", "MEDDRA:10053185", "NCIT:C84734", "SNOMEDCT:274864009", "medgen:5340", "ICD10:E74.02"], "information_content": 92.8}
{"id": "NCBIGene:6785", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELOVL4", "equivalent_identifiers": ["NCBIGene:6785", "ENSEMBL:ENSG00000118402", "HGNC:14415", "OMIM:605512", "UMLS:C1422632", "UniProtKB:Q9GZR5", "PR:Q9GZR5", "ENSEMBL:ENSP00000358831", "ENSEMBL:ENSP00000358831.4", "UMLS:C1447861", "MESH:C418975"], "information_content": 95.4}
{"id": "NCBIGene:84833", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP5MK", "equivalent_identifiers": ["NCBIGene:84833", "ENSEMBL:ENSG00000173915", "HGNC:30889", "OMIM:615204", "UMLS:C1429011", "UniProtKB:Q96IX5", "PR:Q96IX5", "ENSEMBL:ENSP00000311245", "ENSEMBL:ENSP00000311245.3", "ENSEMBL:ENSP00000337705", "ENSEMBL:ENSP00000337705.4", "ENSEMBL:ENSP00000358826", "ENSEMBL:ENSP00000358826.1", "ENSEMBL:ENSP00000358830", "ENSEMBL:ENSP00000358830.1", "ENSEMBL:ENSP00000358840", "ENSEMBL:ENSP00000358840.1", "UMLS:C4277225", "MESH:C000606721"], "information_content": 89.4}
{"id": "UniProtKB:Q03013-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione S-transferase mu 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q03013-1", "PR:Q03013-1", "ENSEMBL:ENSP00000358851", "ENSEMBL:ENSP00000358851.4"], "information_content": 100.0}
{"id": "NCBIGene:2010", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EMD", "equivalent_identifiers": ["NCBIGene:2010", "ENSEMBL:ENSG00000102119", "HGNC:3331", "OMIM:300384", "UMLS:C1414386", "UniProtKB:P50402", "PR:P50402", "ENSEMBL:ENSP00000358857", "ENSEMBL:ENSP00000358857.4", "ENSEMBL:ENSP00000507533", "ENSEMBL:ENSP00000507533.1", "UMLS:C1738973"], "information_content": 92.8}
{"id": "UniProtKB:Q9BYE7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Polycomb group RING finger protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYE7-1", "PR:Q9BYE7-1", "ENSEMBL:ENSP00000358862", "ENSEMBL:ENSP00000358862.3"], "information_content": 100.0}
{"id": "NCBIGene:9118", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INA", "equivalent_identifiers": ["NCBIGene:9118", "ENSEMBL:ENSG00000148798", "HGNC:6057", "OMIM:605338", "UMLS:C1416431", "UniProtKB:Q16352", "PR:Q16352", "ENSEMBL:ENSP00000358865", "ENSEMBL:ENSP00000358865.4", "UMLS:C1700890"], "information_content": 95.4}
{"id": "UniProtKB:P21333-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "filamin-A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P21333-1", "PR:P21333-1", "ENSEMBL:ENSP00000358866", "ENSEMBL:ENSP00000358866.3"], "information_content": 100.0}
{"id": "MONDO:0014518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platelet-type bleeding disorder 19", "equivalent_identifiers": ["MONDO:0014518", "DOID:0111048", "OMIM:616176", "orphanet:438207", "UMLS:C4015405", "medgen:863842"], "information_content": 100.0}
{"id": "NCBIGene:2773", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNAI3", "equivalent_identifiers": ["NCBIGene:2773", "ENSEMBL:ENSG00000065135", "HGNC:4387", "OMIM:139370", "UMLS:C1415144", "UniProtKB:P08754", "PR:P08754", "ENSEMBL:ENSP00000358867", "ENSEMBL:ENSP00000358867.4", "UMLS:C1454213", "MESH:C498819"], "information_content": 90.9}
{"id": "NCBIGene:57463", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AMIGO1", "equivalent_identifiers": ["NCBIGene:57463", "ENSEMBL:ENSG00000181754", "HGNC:20824", "OMIM:615689", "UMLS:C1823184", "UniProtKB:Q86WK6", "PR:Q86WK6", "ENSEMBL:ENSP00000358878", "ENSEMBL:ENSP00000358878.1", "ENSEMBL:ENSP00000358880", "ENSEMBL:ENSP00000358880.4", "UMLS:C3491191", "MESH:C571087"], "information_content": 100.0}
{"id": "NCBIGene:127002", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATXN7L2", "equivalent_identifiers": ["NCBIGene:127002", "ENSEMBL:ENSG00000162650", "HGNC:28713", "UMLS:C1538305", "UniProtKB:A0A804HIT1", "ENSEMBL:ENSP00000507211", "ENSEMBL:ENSP00000507211.1", "UniProtKB:A0A804HIX1", "ENSEMBL:ENSP00000507259", "ENSEMBL:ENSP00000507259.1", "UniProtKB:A0A804HJY2", "ENSEMBL:ENSP00000507693", "ENSEMBL:ENSP00000507693.1", "UniProtKB:Q5T6C5", "PR:Q5T6C5", "ENSEMBL:ENSP00000358886", "ENSEMBL:ENSP00000358886.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5VXT5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptophysin-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VXT5-1", "PR:Q5VXT5-1", "ENSEMBL:ENSP00000358888", "ENSEMBL:ENSP00000358888.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H8M5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metal transporter CNNM2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8M5-1", "PR:Q9H8M5-1", "ENSEMBL:ENSP00000358894", "ENSEMBL:ENSP00000358894.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9HBK9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arsenite methyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBK9-1", "PR:Q9HBK9-1", "ENSEMBL:ENSP00000358896", "ENSEMBL:ENSP00000358896.3"], "information_content": 100.0}
{"id": "NCBIGene:140700", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAMD10", "equivalent_identifiers": ["NCBIGene:140700", "ENSEMBL:ENSG00000130590", "HGNC:16129", "UMLS:C1539723", "UniProtKB:Q9BYL1", "PR:Q9BYL1", "ENSEMBL:ENSP00000358902", "ENSEMBL:ENSP00000358902.3"], "information_content": 95.4}
{"id": "NCBIGene:1586", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP17A1", "equivalent_identifiers": ["NCBIGene:1586", "ENSEMBL:ENSG00000148795", "HGNC:2593", "OMIM:609300", "UMLS:C1413858", "UniProtKB:P05093", "PR:P05093", "ENSEMBL:ENSP00000358903", "ENSEMBL:ENSP00000358903.3", "UMLS:C1570773", "MESH:C501892", "UniProtKB:Q1HB44"], "information_content": 85.5}
{"id": "MONDO:0013017", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 5", "equivalent_identifiers": ["MONDO:0013017", "DOID:0110702", "OMIM:612841", "UMLS:C2748535", "MESH:C567554", "medgen:440568"], "information_content": 100.0}
{"id": "MONDO:0000621", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immune system cancer", "equivalent_identifiers": ["MONDO:0000621", "DOID:0060083"], "information_content": 63.5}
{"id": "NCBIGene:57473", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF512B", "equivalent_identifiers": ["NCBIGene:57473", "ENSEMBL:ENSG00000196700", "HGNC:29212", "OMIM:617886", "UMLS:C2240200", "UniProtKB:Q96KM6", "PR:Q96KM6", "ENSEMBL:ENSP00000358904", "ENSEMBL:ENSP00000358904.1", "UMLS:C2974790", "MESH:C554937"], "information_content": 100.0}
{"id": "NCBIGene:118980", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SFXN2", "equivalent_identifiers": ["NCBIGene:118980", "ENSEMBL:ENSG00000156398", "HGNC:16086", "OMIM:615570", "UMLS:C1423967", "UniProtKB:A0A0C4DGR6", "ENSEMBL:ENSP00000473325", "ENSEMBL:ENSP00000473325.1", "UniProtKB:Q96NB2", "PR:Q96NB2", "ENSEMBL:ENSP00000358909", "ENSEMBL:ENSP00000358909.4", "UMLS:C1312927", "MESH:C478606"], "information_content": 92.8}
{"id": "UniProtKB:Q9UMX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "suppressor of fused homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMX1-1", "PR:Q9UMX1-1", "ENSEMBL:ENSP00000358918", "ENSEMBL:ENSP00000358918.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6PGN9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline/serine-rich coiled-coil protein 1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q6PGN9-2", "PR:Q6PGN9-2", "ENSEMBL:ENSP00000358919", "ENSEMBL:ENSP00000358919.2", "ENSEMBL:ENSP00000358923", "ENSEMBL:ENSP00000358923.3", "ENSEMBL:ENSP00000358925", "ENSEMBL:ENSP00000358925.2", "ENSEMBL:ENSP00000386323", "ENSEMBL:ENSP00000386323.1"], "information_content": 100.0}
{"id": "UniProtKB:P51854-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transketolase-like protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P51854-3", "PR:P51854-3", "ENSEMBL:ENSP00000358931", "ENSEMBL:ENSP00000358931.3"], "information_content": 100.0}
{"id": "NCBIGene:140701", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABHD16B", "equivalent_identifiers": ["NCBIGene:140701", "ENSEMBL:ENSG00000183260", "HGNC:16128", "OMIM:620190", "UMLS:C1424008", "UniProtKB:Q9H3Z7", "PR:Q9H3Z7", "ENSEMBL:ENSP00000358932", "ENSEMBL:ENSP00000358932.3"], "information_content": 100.0}
{"id": "MONDO:0003942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "eosinophilic variant of chromophobe renal cell carcinoma", "equivalent_identifiers": ["MONDO:0003942", "DOID:6606", "UMLS:C1333405", "NCIT:C27889", "medgen:232458"], "information_content": 100.0}
{"id": "NCBIGene:6301", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SARS1", "equivalent_identifiers": ["NCBIGene:6301", "ENSEMBL:ENSG00000031698", "HGNC:10537", "OMIM:607529", "UMLS:C1419818", "UniProtKB:P49591", "PR:P49591", "ENSEMBL:ENSP00000234677", "ENSEMBL:ENSP00000234677.2", "UMLS:C5772057", "MESH:C000724018", "UniProtKB:Q0VGA5", "UniProtKB:Q5T5C7", "ENSEMBL:ENSP00000358939", "ENSEMBL:ENSP00000358939.4"]}
{"id": "UniProtKB:P0DN77", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "OPSG2_HUMAN Medium-wave-sensitive opsin 2 (sprot)", "equivalent_identifiers": ["UniProtKB:P0DN77", "PR:P0DN77", "ENSEMBL:ENSP00000358945", "ENSEMBL:ENSP00000358945.4"], "information_content": 100.0}
{"id": "NCBIGene:79004", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CUEDC2", "equivalent_identifiers": ["NCBIGene:79004", "ENSEMBL:ENSG00000107874", "HGNC:28352", "OMIM:614142", "UMLS:C1428692", "UniProtKB:Q9H467", "PR:Q9H467", "ENSEMBL:ENSP00000358953", "ENSEMBL:ENSP00000358953.4", "UMLS:C1956824", "MESH:C519556"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXG2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXG2-1", "PR:Q6UXG2-1", "ENSEMBL:ENSP00000358955", "ENSEMBL:ENSP00000358955.3"], "information_content": 100.0}
{"id": "NCBIGene:3351", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTR1B", "equivalent_identifiers": ["NCBIGene:3351", "ENSEMBL:ENSG00000135312", "HGNC:5287", "OMIM:182131", "UMLS:C1415804", "UniProtKB:A8K215", "UniProtKB:P28222", "PR:P28222", "ENSEMBL:ENSP00000358963", "ENSEMBL:ENSP00000358963.3", "UMLS:C0248161", "MESH:C470302", "UniProtKB:X5D7I5"], "information_content": 95.4}
{"id": "UniProtKB:Q5T5A4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 276 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5T5A4-2", "PR:Q5T5A4-2", "ENSEMBL:ENSP00000358965", "ENSEMBL:ENSP00000358965.4"], "information_content": 100.0}
{"id": "MONDO:0003473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal cord ependymoma", "equivalent_identifiers": ["MONDO:0003473", "DOID:5503", "UMLS:C0238432", "NCIT:C3875", "SNOMEDCT:254949006", "medgen:65968"], "information_content": 90.9}
{"id": "UniProtKB:Q17R60-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interphotoreceptor matrix proteoglycan 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q17R60-1", "PR:Q17R60-1", "ENSEMBL:ENSP00000358966", "ENSEMBL:ENSP00000358966.3"], "information_content": 100.0}
{"id": "MONDO:0013719", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cranioectodermal dysplasia 4", "equivalent_identifiers": ["MONDO:0013719", "DOID:0080806", "OMIM:614378", "UMLS:C3280616", "medgen:482246"], "information_content": 100.0}
{"id": "NCBIGene:5956", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OPN1LW", "equivalent_identifiers": ["NCBIGene:5956", "ENSEMBL:ENSG00000102076", "HGNC:9936", "OMIM:300822", "UMLS:C1419325", "UniProtKB:P04000", "PR:P04000", "ENSEMBL:ENSP00000358967", "ENSEMBL:ENSP00000358967.4", "UMLS:C1613869"], "information_content": 90.9}
{"id": "UniProtKB:Q00653-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor NF-kappa-B p100 subunit isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q00653-1", "PR:Q00653-1", "ENSEMBL:ENSP00000358983", "ENSEMBL:ENSP00000358983.3", "ENSEMBL:ENSP00000499294", "ENSEMBL:ENSP00000499294.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UM54-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-VI isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UM54-1", "PR:Q9UM54-1", "ENSEMBL:ENSP00000358994", "ENSEMBL:ENSP00000358994.3"], "information_content": 100.0}
{"id": "UniProtKB:P51617-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-1 receptor-associated kinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P51617-1", "PR:P51617-1", "ENSEMBL:ENSP00000358997", "ENSEMBL:ENSP00000358997.3"], "information_content": 89.4}
{"id": "NCBIGene:8269", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM187", "equivalent_identifiers": ["NCBIGene:8269", "ENSEMBL:ENSG00000177854", "HGNC:13705", "OMIM:300059", "UMLS:C1422152", "UniProtKB:Q14656", "PR:Q14656", "ENSEMBL:ENSP00000358999", "ENSEMBL:ENSP00000358999.4", "UMLS:C4506159", "MESH:C000616434"], "information_content": 100.0}
{"id": "UniProtKB:Q92538-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92538-4", "PR:Q92538-4", "ENSEMBL:ENSP00000359000", "ENSEMBL:ENSP00000359000.4"], "information_content": 100.0}
{"id": "NCBIGene:8771", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFRSF6B", "equivalent_identifiers": ["NCBIGene:8771", "ENSEMBL:ENSG00000243509", "HGNC:11921", "OMIM:603361", "UMLS:C1367454", "UniProtKB:O95407", "PR:O95407", "ENSEMBL:ENSP00000359013", "ENSEMBL:ENSP00000359013.1", "UMLS:C1259595", "MESH:C505911"], "information_content": 92.8}
{"id": "NCBIGene:5309", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PITX3", "equivalent_identifiers": ["NCBIGene:5309", "ENSEMBL:ENSG00000107859", "HGNC:9006", "OMIM:602669", "UMLS:C1418597", "UniProtKB:O75364", "PR:O75364", "ENSEMBL:ENSP00000359019", "ENSEMBL:ENSP00000359019.3", "UMLS:C1568676"], "information_content": 95.4}
{"id": "NCBIGene:83401", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELOVL3", "equivalent_identifiers": ["NCBIGene:83401", "ENSEMBL:ENSG00000119915", "HGNC:18047", "OMIM:611815", "UMLS:C1425264", "UniProtKB:Q9HB03", "PR:Q9HB03", "ENSEMBL:ENSP00000359022", "ENSEMBL:ENSP00000359022.3", "UMLS:C2713417", "MESH:C000630953"], "information_content": 100.0}
{"id": "NCBIGene:6814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STXBP3", "equivalent_identifiers": ["NCBIGene:6814", "ENSEMBL:ENSG00000116266", "HGNC:11446", "OMIM:608339", "UMLS:C1420508", "UniProtKB:O00186", "PR:O00186", "ENSEMBL:ENSP00000359025", "ENSEMBL:ENSP00000359025.3"], "information_content": 92.8}
{"id": "NCBIGene:163479", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FNDC7", "equivalent_identifiers": ["NCBIGene:163479", "ENSEMBL:ENSG00000143107", "HGNC:26668", "UMLS:C1825306", "UniProtKB:Q5VTL7", "PR:Q5VTL7", "ENSEMBL:ENSP00000359034", "ENSEMBL:ENSP00000359034.3"], "information_content": 100.0}
{"id": "UniProtKB:P98171-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P98171-2", "PR:P98171-2", "ENSEMBL:ENSP00000359045", "ENSEMBL:ENSP00000359045.3"], "information_content": 100.0}
{"id": "NCBIGene:113802", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HENMT1", "equivalent_identifiers": ["NCBIGene:113802", "ENSEMBL:ENSG00000162639", "HGNC:26400", "OMIM:612178", "UMLS:C1823206", "UniProtKB:Q5T8I9", "PR:Q5T8I9", "ENSEMBL:ENSP00000359049", "ENSEMBL:ENSP00000359049.5", "ENSEMBL:ENSP00000385655", "ENSEMBL:ENSP00000385655.1", "ENSEMBL:ENSP00000499017", "ENSEMBL:ENSP00000499017.1", "UMLS:C4705803", "MESH:C000627281"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZ72-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stathmin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZ72-1", "PR:Q9NZ72-1", "ENSEMBL:ENSP00000359070", "ENSEMBL:ENSP00000359070.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKW4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide exchange factor VAV3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKW4-1", "PR:Q9UKW4-1", "ENSEMBL:ENSP00000359073", "ENSEMBL:ENSP00000359073.4"], "information_content": 100.0}
{"id": "UniProtKB:P32004-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neural cell adhesion molecule L1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P32004-1", "PR:P32004-1", "ENSEMBL:ENSP00000359077", "ENSEMBL:ENSP00000359077.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y2I2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "netrin-G1 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2I2-3", "PR:Q9Y2I2-3", "ENSEMBL:ENSP00000359085", "ENSEMBL:ENSP00000359085.1", "ENSEMBL:ENSP00000359090", "ENSEMBL:ENSP00000359090.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96LA8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein arginine N-methyltransferase 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LA8-1", "PR:Q96LA8-1", "ENSEMBL:ENSP00000359095", "ENSEMBL:ENSP00000359095.1"], "information_content": 100.0}
{"id": "NCBIGene:1347", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX7A2", "equivalent_identifiers": ["NCBIGene:1347", "ENSEMBL:ENSG00000112695", "HGNC:2288", "OMIM:123996", "UMLS:C1413656", "UniProtKB:H0UI06", "ENSEMBL:ENSP00000359098", "ENSEMBL:ENSP00000359098.2", "ENSEMBL:ENSP00000359106", "ENSEMBL:ENSP00000359106.2", "UniProtKB:P14406", "PR:P14406", "ENSEMBL:ENSP00000506727", "ENSEMBL:ENSP00000506727.1"]}
{"id": "UniProtKB:P12107-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XI) chain isoform A (human)", "equivalent_identifiers": ["UniProtKB:P12107-1", "PR:P12107-1", "ENSEMBL:ENSP00000359114", "ENSEMBL:ENSP00000359114.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPE1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SRSF protein kinase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPE1-1", "PR:Q9UPE1-1", "ENSEMBL:ENSP00000359119", "ENSEMBL:ENSP00000359119.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2P9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diphthine methyl ester synthase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2P9-1", "PR:Q9H2P9-1", "ENSEMBL:ENSP00000359127", "ENSEMBL:ENSP00000359127.3", "ENSEMBL:ENSP00000394364", "ENSEMBL:ENSP00000394364.3", "ENSEMBL:ENSP00000418282", "ENSEMBL:ENSP00000418282.1"], "information_content": 100.0}
{"id": "NCBIGene:2135", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXTL2", "equivalent_identifiers": ["NCBIGene:2135", "ENSEMBL:ENSG00000162694", "HGNC:3516", "OMIM:602411", "UMLS:C1333367", "UniProtKB:F5GZK1", "ENSEMBL:ENSP00000444385", "ENSEMBL:ENSP00000444385.2", "UniProtKB:Q8N8F1", "UniProtKB:Q9UBQ6", "PR:Q9UBQ6", "ENSEMBL:ENSP00000359131", "ENSEMBL:ENSP00000359131.3", "ENSEMBL:ENSP00000359132", "ENSEMBL:ENSP00000359132.3", "UMLS:C1308415", "MESH:C110834"], "information_content": 100.0}
{"id": "NCBIGene:1629", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DBT", "equivalent_identifiers": ["NCBIGene:1629", "ENSEMBL:ENSG00000137992", "HGNC:2698", "OMIM:248610", "UMLS:C1413925", "UniProtKB:A0A7P0T9W1", "ENSEMBL:ENSP00000505780", "ENSEMBL:ENSP00000505780.1", "UniProtKB:P11182", "PR:P11182", "ENSEMBL:ENSP00000359151", "ENSEMBL:ENSP00000359151.3"], "information_content": 87.2}
{"id": "NCBIGene:25911", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPCD", "equivalent_identifiers": ["NCBIGene:25911", "ENSEMBL:ENSG00000166171", "HGNC:24542", "OMIM:616467", "UMLS:C2829279", "UniProtKB:Q5JQQ4", "ENSEMBL:ENSP00000359166", "ENSEMBL:ENSP00000359166.1", "ENSEMBL:ENSP00000486078", "ENSEMBL:ENSP00000486078.1", "UMLS:C1451203", "MESH:C484968", "UniProtKB:Q9BVM2", "PR:Q9BVM2", "ENSEMBL:ENSP00000359170", "ENSEMBL:ENSP00000359170.4"], "information_content": 95.4}
{"id": "MONDO:0006935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary subvalvular stenosis", "equivalent_identifiers": ["MONDO:0006935", "DOID:8861", "EFO:1001137", "UMLS:C0034084", "MESH:D011662", "MEDDRA:10010514", "MEDDRA:10022012", "NCIT:C34961", "SNOMEDCT:204370002", "medgen:11030", "ICD10:Q24.3", "ICD9:746.83", "HP:0034348"], "information_content": 100.0}
{"id": "NCBIGene:64645", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC71A1", "equivalent_identifiers": ["NCBIGene:64645", "ENSEMBL:ENSG00000156875", "HGNC:23363", "OMIM:620347", "UMLS:C1428051", "UniProtKB:Q96MC6", "PR:Q96MC6", "ENSEMBL:ENSP00000359171", "ENSEMBL:ENSP00000359171.3"], "information_content": 90.9}
{"id": "MONDO:0005005", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "clear cell renal carcinoma", "equivalent_identifiers": ["MONDO:0005005", "DOID:4467", "orphanet:319276", "EFO:0000349", "UMLS:C0279702", "MEDDRA:10009251", "MEDDRA:10020681", "MEDDRA:10038416", "MEDDRA:10073251", "NCIT:C4033", "SNOMEDCT:1187306007", "SNOMEDCT:188251003", "SNOMEDCT:254915003", "medgen:76018", "HP:0006770"], "information_content": 78.3}
{"id": "UniProtKB:Q9Y2D2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-N-acetylglucosamine transporter isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2D2-2", "PR:Q9Y2D2-2", "ENSEMBL:ENSP00000359172", "ENSEMBL:ENSP00000359172.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGP5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA polymerase lambda isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGP5-1", "PR:Q9UGP5-1", "ENSEMBL:ENSP00000299206", "ENSEMBL:ENSP00000299206.4", "ENSEMBL:ENSP00000359181", "ENSEMBL:ENSP00000359181.3", "ENSEMBL:ENSP00000359188", "ENSEMBL:ENSP00000359188.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z2D5-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid phosphatase-related protein type 4 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2D5-4", "PR:Q7Z2D5-4", "ENSEMBL:ENSP00000359204", "ENSEMBL:ENSP00000359204.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y297-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/WD repeat-containing protein 1A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y297-1", "PR:Q9Y297-1", "ENSEMBL:ENSP00000359206", "ENSEMBL:ENSP00000359206.3"], "information_content": 100.0}
{"id": "UniProtKB:Q12882-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q12882-1", "PR:Q12882-1", "ENSEMBL:ENSP00000359211", "ENSEMBL:ENSP00000359211.3"], "information_content": 100.0}
{"id": "NCBIGene:10660", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LBX1", "equivalent_identifiers": ["NCBIGene:10660", "ENSEMBL:ENSG00000138136", "HGNC:16960", "OMIM:604255", "UMLS:C1825796", "UniProtKB:P52954", "PR:P52954", "ENSEMBL:ENSP00000359212", "ENSEMBL:ENSP00000359212.2", "UMLS:C2717732", "MESH:C542809"], "information_content": 100.0}
{"id": "UniProtKB:P31314-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell leukemia homeobox protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P31314-1", "PR:P31314-1", "ENSEMBL:ENSP00000359215", "ENSEMBL:ENSP00000359215.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKA9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypyrimidine tract-binding protein 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKA9-3", "PR:Q9UKA9-3", "ENSEMBL:ENSP00000359216", "ENSEMBL:ENSP00000359216.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3V2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RWD domain-containing protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3V2-1", "PR:Q9Y3V2-1", "ENSEMBL:ENSP00000359221", "ENSEMBL:ENSP00000359221.4"], "information_content": 100.0}
{"id": "NCBIGene:148534", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLCD4", "equivalent_identifiers": ["NCBIGene:148534", "ENSEMBL:ENSG00000152078", "HGNC:26477", "UMLS:C1823318", "UniProtKB:Q96MV1", "PR:Q96MV1", "ENSEMBL:ENSP00000359222", "ENSEMBL:ENSP00000359222.4"], "information_content": 95.4}
{"id": "NCBIGene:199857", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALG14", "equivalent_identifiers": ["NCBIGene:199857", "ENSEMBL:ENSG00000172339", "HGNC:28287", "OMIM:612866", "UMLS:C1823173", "UniProtKB:Q96F25", "PR:Q96F25", "ENSEMBL:ENSP00000359224", "ENSEMBL:ENSP00000359224.4"], "information_content": 92.8}
{"id": "UniProtKB:Q15417-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calponin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15417-1", "PR:Q15417-1", "ENSEMBL:ENSP00000359225", "ENSEMBL:ENSP00000359225.4"], "information_content": 100.0}
{"id": "UniProtKB:Q99871-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HAUS augmin-like complex subunit 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99871-1", "PR:Q99871-1", "ENSEMBL:ENSP00000359230", "ENSEMBL:ENSP00000359230.6"], "information_content": 100.0}
{"id": "UniProtKB:P28288-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family D member 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P28288-1", "PR:P28288-1", "ENSEMBL:ENSP00000359233", "ENSEMBL:ENSP00000359233.4"], "information_content": 100.0}
{"id": "NCBIGene:84445", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LZTS2", "equivalent_identifiers": ["NCBIGene:84445", "ENSEMBL:ENSG00000107816", "HGNC:29381", "OMIM:610454", "UMLS:C1428848", "UniProtKB:B4DP66", "UMLS:C1099377", "MESH:C440108", "UniProtKB:Q9BRK4", "PR:Q9BRK4", "ENSEMBL:ENSP00000359240", "ENSEMBL:ENSP00000359240.1", "ENSEMBL:ENSP00000359243", "ENSEMBL:ENSP00000359243.3", "ENSEMBL:ENSP00000416972", "ENSEMBL:ENSP00000416972.2"], "information_content": 95.4}
{"id": "NCBIGene:24", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABCA4", "equivalent_identifiers": ["NCBIGene:24", "ENSEMBL:ENSG00000198691", "HGNC:34", "OMIM:601691", "UMLS:C1412063", "UniProtKB:P78363", "PR:P78363", "ENSEMBL:ENSP00000359245", "ENSEMBL:ENSP00000359245.3", "UMLS:C0526291", "MESH:C056475"], "information_content": 88.2}
{"id": "UniProtKB:P48507-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate--cysteine ligase regulatory subunit isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48507-1", "PR:P48507-1", "ENSEMBL:ENSP00000359258", "ENSEMBL:ENSP00000359258.3"], "information_content": 100.0}
{"id": "NCBIGene:10838", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF275", "equivalent_identifiers": ["NCBIGene:10838", "ENSEMBL:ENSG00000063587", "HGNC:13069", "UMLS:C1421761", "UniProtKB:A6NFS0", "ENSEMBL:ENSP00000359271", "ENSEMBL:ENSP00000359271.2", "UniProtKB:Q9NSD4", "PR:Q9NSD4"]}
{"id": "MONDO:0020721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked sideroblastic anemia 1", "equivalent_identifiers": ["MONDO:0020721", "DOID:0060063", "OMIM:300751", "orphanet:75563", "UMLS:C4551511", "MESH:C536761", "SNOMEDCT:48983004", "SNOMEDCT:62677000", "medgen:1638704"], "information_content": 100.0}
{"id": "UniProtKB:P43681-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal acetylcholine receptor subunit alpha-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43681-1", "PR:P43681-1", "ENSEMBL:ENSP00000359285", "ENSEMBL:ENSP00000359285.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IX21-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SMC5-SMC6 complex localization factor protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IX21-2", "PR:Q8IX21-2", "ENSEMBL:ENSP00000359292", "ENSEMBL:ENSP00000359292.3"], "information_content": 100.0}
{"id": "MONDO:0010060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)", "equivalent_identifiers": ["MONDO:0010060", "DOID:0080126", "OMIM:271245", "orphanet:1186", "UMLS:C1849096", "MESH:C535523", "SNOMEDCT:724227000", "medgen:338613"], "information_content": 100.0}
{"id": "NCBIGene:1810", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DR1", "equivalent_identifiers": ["NCBIGene:1810", "ENSEMBL:ENSG00000117505", "HGNC:3017", "OMIM:601482", "UMLS:C1333247", "UniProtKB:Q01658", "PR:Q01658", "ENSEMBL:ENSP00000359290", "ENSEMBL:ENSP00000359290.1", "ENSEMBL:ENSP00000359295", "ENSEMBL:ENSP00000359295.3", "UMLS:C0170954", "UniProtKB:Q658N3"], "information_content": 95.4}
{"id": "MONDO:0005880", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "oesophagostomiasis", "equivalent_identifiers": ["MONDO:0005880", "DOID:3983", "EFO:0007400", "UMLS:C0028887", "MESH:D009814", "SNOMEDCT:22500005", "medgen:18151", "icd11.foundation:1664841973"], "information_content": 100.0}
{"id": "MONDO:0001412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "conjunctival concretion", "equivalent_identifiers": ["MONDO:0001412", "DOID:11988", "UMLS:C0155162", "MEDDRA:10059789", "SNOMEDCT:13706005", "medgen:509822", "ICD10:H11.12", "ICD9:372.54"], "information_content": 100.0}
{"id": "NCBIGene:50814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NSDHL", "equivalent_identifiers": ["NCBIGene:50814", "ENSEMBL:ENSG00000147383", "HGNC:13398", "OMIM:300275", "UMLS:C1538487", "UniProtKB:A0A384NPZ7", "UniProtKB:Q15738", "PR:Q15738", "ENSEMBL:ENSP00000359297", "ENSEMBL:ENSP00000359297.3", "ENSEMBL:ENSP00000391854", "ENSEMBL:ENSP00000391854.1", "ENSEMBL:ENSP00000517980", "ENSEMBL:ENSP00000517980.1", "ENSEMBL:ENSP00000517982", "ENSEMBL:ENSP00000517982.1"], "information_content": 95.4}
{"id": "NCBIGene:1069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CETN2", "equivalent_identifiers": ["NCBIGene:1069", "ENSEMBL:ENSG00000147400", "HGNC:1867", "OMIM:300006", "UMLS:C1413351", "UniProtKB:P41208", "PR:P41208", "ENSEMBL:ENSP00000359300", "ENSEMBL:ENSP00000359300.3", "ENSEMBL:ENSP00000517979", "ENSEMBL:ENSP00000517979.1", "UMLS:C1175407", "MESH:C472752"], "information_content": 87.2}
{"id": "UniProtKB:Q9Y3A6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane emp24 domain-containing protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3A6-1", "PR:Q9Y3A6-1", "ENSEMBL:ENSP00000359305", "ENSEMBL:ENSP00000359305.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6PB30-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chondrosarcoma-associated gene 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PB30-1", "PR:Q6PB30-1", "ENSEMBL:ENSP00000359310", "ENSEMBL:ENSP00000359310.3", "ENSEMBL:ENSP00000396520", "ENSEMBL:ENSP00000396520.2"], "information_content": 100.0}
{"id": "UniProtKB:Q02962-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paired box protein Pax-2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q02962-4", "PR:Q02962-4", "ENSEMBL:ENSP00000359319", "ENSEMBL:ENSP00000359319.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y483-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metal-response element-binding transcription factor 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y483-1", "PR:Q9Y483-1", "ENSEMBL:ENSP00000359321", "ENSEMBL:ENSP00000359321.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5T7M9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "divergent protein kinase domain 1A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T7M9-1", "PR:Q5T7M9-1", "ENSEMBL:ENSP00000359333", "ENSEMBL:ENSP00000359333.4"], "information_content": 100.0}
{"id": "NCBIGene:2556", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABRA3", "equivalent_identifiers": ["NCBIGene:2556", "ENSEMBL:ENSG00000011677", "HGNC:4077", "OMIM:305660", "UMLS:C1414910", "UniProtKB:P34903", "PR:P34903", "ENSEMBL:ENSP00000359337", "ENSEMBL:ENSP00000359337.4", "ENSEMBL:ENSP00000443527", "ENSEMBL:ENSP00000443527.1", "UMLS:C2714738", "MESH:C546257"], "information_content": 95.4}
{"id": "UniProtKB:Q8N884-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic GMP-AMP synthase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N884-1", "PR:Q8N884-1", "ENSEMBL:ENSP00000359339", "ENSEMBL:ENSP00000359339.3"], "information_content": 100.0}
{"id": "NCBIGene:6125", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL5", "equivalent_identifiers": ["NCBIGene:6125", "ENSEMBL:ENSG00000122406", "HGNC:10360", "OMIM:603634", "UMLS:C1419683", "UniProtKB:A2RUM7", "UniProtKB:P46777", "PR:P46777", "ENSEMBL:ENSP00000359345", "ENSEMBL:ENSP00000359345.2", "UMLS:C2933718", "MESH:C549166"], "information_content": 83.1}
{"id": "UniProtKB:P78334-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-aminobutyric acid receptor subunit epsilon isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78334-1", "PR:P78334-1", "ENSEMBL:ENSP00000359353", "ENSEMBL:ENSP00000359353.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable ATP-dependent RNA helicase DDX43 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXZ2-1", "PR:Q9NXZ2-1", "ENSEMBL:ENSP00000359361", "ENSEMBL:ENSP00000359361.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYJ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "YTH domain-containing family protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYJ9-1", "PR:Q9BYJ9-1", "ENSEMBL:ENSP00000359364", "ENSEMBL:ENSP00000359364.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein transport protein Sec31B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQW1-1", "PR:Q9NQW1-1", "ENSEMBL:ENSP00000359370", "ENSEMBL:ENSP00000359370.3"], "information_content": 100.0}
{"id": "NCBIGene:89885", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FATE1", "equivalent_identifiers": ["NCBIGene:89885", "ENSEMBL:ENSG00000147378", "HGNC:24683", "OMIM:300450", "UMLS:C1539479", "UniProtKB:Q969F0", "PR:Q969F0", "ENSEMBL:ENSP00000359375", "ENSEMBL:ENSP00000359375.3", "UMLS:C1121085", "MESH:C449758"], "information_content": 100.0}
{"id": "MONDO:0010353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deafness-intellectual disability, Martin-Probst type syndrome", "equivalent_identifiers": ["MONDO:0010353", "DOID:0060830", "OMIM:300519", "orphanet:85321", "UMLS:C1845285", "MESH:C564495", "SNOMEDCT:721087008", "medgen:375620"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYT1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated purine nucleotide uniporter SLC17A9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYT1-1", "PR:Q9BYT1-1", "ENSEMBL:ENSP00000359376", "ENSEMBL:ENSP00000359376.4"], "information_content": 100.0}
{"id": "NCBIGene:79057", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRRG3", "equivalent_identifiers": ["NCBIGene:79057", "ENSEMBL:ENSG00000130032", "HGNC:30798", "OMIM:300685", "UMLS:C1538725", "UniProtKB:A0A6I8PL69", "ENSEMBL:ENSP00000501391", "ENSEMBL:ENSP00000501391.1", "ENSEMBL:ENSP00000501402", "ENSEMBL:ENSP00000501402.1", "UniProtKB:Q9BZD7", "PR:Q9BZD7", "ENSEMBL:ENSP00000359378", "ENSEMBL:ENSP00000359378.3", "ENSEMBL:ENSP00000440217", "ENSEMBL:ENSP00000440217.1", "ENSEMBL:ENSP00000501544", "ENSEMBL:ENSP00000501544.1", "UMLS:C1447934", "MESH:C423614"], "information_content": 95.4}
{"id": "NCBIGene:6319", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCD", "equivalent_identifiers": ["NCBIGene:6319", "ENSEMBL:ENSG00000099194", "HGNC:10571", "OMIM:604031", "UMLS:C1419846", "UniProtKB:O00767", "PR:O00767", "ENSEMBL:ENSP00000359380", "ENSEMBL:ENSP00000359380.2", "UMLS:C5441731"], "information_content": 87.2}
{"id": "UniProtKB:Q8IV76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "circadian clock protein PASD1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IV76-1", "PR:Q8IV76-1", "ENSEMBL:ENSP00000359382", "ENSEMBL:ENSP00000359382.4"], "information_content": 100.0}
{"id": "NCBIGene:441161", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OOEP", "equivalent_identifiers": ["NCBIGene:441161", "ENSEMBL:ENSG00000203907", "HGNC:21382", "OMIM:611689", "UMLS:C1968827", "UniProtKB:A6NGQ2", "PR:A6NGQ2", "ENSEMBL:ENSP00000359384", "ENSEMBL:ENSP00000359384.5", "UniProtKB:F2Z364", "ENSEMBL:ENSP00000359388", "ENSEMBL:ENSP00000359388.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92990-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glomulin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92990-1", "PR:Q92990-1", "ENSEMBL:ENSP00000359385", "ENSEMBL:ENSP00000359385.3"], "information_content": 100.0}
{"id": "UniProtKB:Q3ZAQ7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar ATPase assembly integral membrane protein VMA21 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q3ZAQ7-2", "PR:Q3ZAQ7-2", "ENSEMBL:ENSP00000359386", "ENSEMBL:ENSP00000359386.1"], "information_content": 100.0}
{"id": "MONDO:0010684", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked myopathy with excessive autophagy", "equivalent_identifiers": ["MONDO:0010684", "DOID:0050760", "OMIM:310440", "orphanet:25980", "UMLS:C1839615", "MESH:C536522", "MESH:C564093", "SNOMEDCT:719815005", "medgen:374264"], "information_content": 95.4}
{"id": "MONDO:0014601", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 20", "equivalent_identifiers": ["MONDO:0014601", "DOID:0080066", "OMIM:616354", "orphanet:397709", "UMLS:C5190595", "SNOMEDCT:782753000", "medgen:1684324"], "information_content": 100.0}
{"id": "MONDO:0010476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodegeneration with brain iron accumulation 5", "equivalent_identifiers": ["MONDO:0010476", "DOID:0110739", "OMIM:300894", "orphanet:329284", "UMLS:C3550973", "NCIT:C175210", "SNOMEDCT:732959007", "medgen:763887"], "information_content": 100.0}
{"id": "MONDO:0033115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 25", "equivalent_identifiers": ["MONDO:0033115", "DOID:0080259", "OMIM:617584", "UMLS:C4539808", "medgen:1618081"], "information_content": 100.0}
{"id": "NCBIGene:154288", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KHDC3L", "equivalent_identifiers": ["NCBIGene:154288", "ENSEMBL:ENSG00000203908", "HGNC:33699", "OMIM:611687", "UMLS:C1968829", "UniProtKB:Q587J8", "PR:Q587J8", "ENSEMBL:ENSP00000359392", "ENSEMBL:ENSP00000359392.3", "UMLS:C3254538", "MESH:C568062"], "information_content": 100.0}
{"id": "MONDO:0020552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "placental site trophoblastic tumor", "equivalent_identifiers": ["MONDO:0020552", "DOID:3596", "orphanet:99928", "EFO:1001111", "UMLS:C0206666", "MESH:D018245", "NCIT:C3757", "SNOMEDCT:237252008", "SNOMEDCT:75320001", "medgen:104914"], "information_content": 100.0}
{"id": "MONDO:0016787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epithelioid trophoblastic tumor", "equivalent_identifiers": ["MONDO:0016787", "DOID:3593", "orphanet:254698", "UMLS:C1266159", "NCIT:C6900", "SNOMEDCT:128767001", "SNOMEDCT:609515005", "medgen:266107"], "information_content": 100.0}
{"id": "NCBIGene:3149", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMGB3", "equivalent_identifiers": ["NCBIGene:3149", "ENSEMBL:ENSG00000029993", "HGNC:5004", "OMIM:300193", "UMLS:C1333910", "UniProtKB:O15347", "PR:O15347", "ENSEMBL:ENSP00000359393", "ENSEMBL:ENSP00000359393.3", "ENSEMBL:ENSP00000442758", "ENSEMBL:ENSP00000442758.1", "UMLS:C5441864", "MESH:C000731147"], "information_content": 92.8}
{"id": "NCBIGene:340168", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPPA5", "equivalent_identifiers": ["NCBIGene:340168", "ENSEMBL:ENSG00000203909", "HGNC:19201", "OMIM:611111", "UMLS:C1426086", "UniProtKB:A6NC42", "PR:A6NC42", "ENSEMBL:ENSP00000359396", "ENSEMBL:ENSP00000359396.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6QNY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6QNY1-1", "PR:Q6QNY1-1", "ENSEMBL:ENSP00000359398", "ENSEMBL:ENSP00000359398.2"], "information_content": 100.0}
{"id": "NCBIGene:388649", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1orf146", "equivalent_identifiers": ["NCBIGene:388649", "ENSEMBL:ENSG00000203910", "HGNC:24032", "OMIM:618968", "UMLS:C1823765", "UniProtKB:Q5VVC0", "PR:Q5VVC0", "ENSEMBL:ENSP00000359401", "ENSEMBL:ENSP00000359401.3", "UniProtKB:X6R7K4", "ENSEMBL:ENSP00000359399", "ENSEMBL:ENSP00000359399.2"], "information_content": 100.0}
{"id": "UniProtKB:Q4VXA5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KH homology domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4VXA5-1", "PR:Q4VXA5-1", "ENSEMBL:ENSP00000359411", "ENSEMBL:ENSP00000359411.3"], "information_content": 100.0}
{"id": "NCBIGene:100129128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KHDC1L", "equivalent_identifiers": ["NCBIGene:100129128", "ENSEMBL:ENSG00000256980", "HGNC:37274", "UMLS:C2829597", "UniProtKB:Q5JSQ8", "PR:Q5JSQ8", "ENSEMBL:ENSP00000359415", "ENSEMBL:ENSP00000359415.3"], "information_content": 100.0}
{"id": "MONDO:0003517", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mature teratoma", "equivalent_identifiers": ["MONDO:0003517", "DOID:5566", "UMLS:C0346187", "UMLS:C1368910", "NCIT:C9015", "SNOMEDCT:254875009", "medgen:277967"], "information_content": 78.5}
{"id": "UniProtKB:Q13496-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myotubularin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13496-1", "PR:Q13496-1", "ENSEMBL:ENSP00000359423", "ENSEMBL:ENSP00000359423.3", "ENSEMBL:ENSP00000508718", "ENSEMBL:ENSP00000508718.1", "ENSEMBL:ENSP00000509266", "ENSEMBL:ENSP00000509266.1"], "information_content": 100.0}
{"id": "MONDO:0000565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infective endocarditis", "equivalent_identifiers": ["MONDO:0000565", "DOID:0060000", "orphanet:570762", "UMLS:C1541923", "NCIT:C78265", "SNOMEDCT:233850007", "medgen:323818", "icd11.foundation:512128824"], "information_content": 85.5}
{"id": "NCBIGene:1147", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHUK", "equivalent_identifiers": ["NCBIGene:1147", "ENSEMBL:ENSG00000213341", "HGNC:1974", "OMIM:600664", "UMLS:C1413419", "UniProtKB:O15111", "PR:O15111", "ENSEMBL:ENSP00000359424", "ENSEMBL:ENSP00000359424.6", "UMLS:C1565874", "MESH:C496559"], "information_content": 86.3}
{"id": "NCBIGene:541578", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EOLA2", "equivalent_identifiers": ["NCBIGene:541578", "ENSEMBL:ENSG00000197021", "HGNC:17402", "UMLS:C5241012", "UniProtKB:Q5HY62", "ENSEMBL:ENSP00000417546", "ENSEMBL:ENSP00000417546.1", "UniProtKB:Q96DE9", "PR:Q96DE9", "ENSEMBL:ENSP00000347339", "ENSEMBL:ENSP00000347339.2", "ENSEMBL:ENSP00000359432", "ENSEMBL:ENSP00000359432.1", "ENSEMBL:ENSP00000359434", "ENSEMBL:ENSP00000359434.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBD0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HSFX1_HUMAN Heat shock transcription factor, X-linked (sprot)", "equivalent_identifiers": ["UniProtKB:Q9UBD0", "PR:Q9UBD0", "ENSEMBL:ENSP00000359444", "ENSEMBL:ENSP00000359444.4", "ENSEMBL:ENSP00000469223", "ENSEMBL:ENSP00000469223.1"], "information_content": 100.0}
{"id": "NCBIGene:1369", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPN1", "equivalent_identifiers": ["NCBIGene:1369", "ENSEMBL:ENSG00000120054", "HGNC:2312", "OMIM:603103", "UMLS:C1413673", "UniProtKB:P15169", "PR:P15169", "ENSEMBL:ENSP00000359446", "ENSEMBL:ENSP00000359446.3", "UMLS:C5552896"], "information_content": 95.4}
{"id": "UniProtKB:A2PYH4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable ATP-dependent DNA helicase HFM1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2PYH4-1", "PR:A2PYH4-1", "ENSEMBL:ENSP00000359454", "ENSEMBL:ENSP00000359454.3"], "information_content": 100.0}
{"id": "NCBIGene:79627", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OGFRL1", "equivalent_identifiers": ["NCBIGene:79627", "ENSEMBL:ENSG00000119900", "HGNC:21378", "OMIM:621133", "UMLS:C1427524", "UniProtKB:A0A3B3IRI0", "ENSEMBL:ENSP00000496790", "ENSEMBL:ENSP00000496790.1", "UniProtKB:Q5TC84", "PR:Q5TC84", "ENSEMBL:ENSP00000359464", "ENSEMBL:ENSP00000359464.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H582-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 644 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H582-1", "PR:Q9H582-1", "ENSEMBL:ENSP00000337008", "ENSEMBL:ENSP00000337008.5", "ENSEMBL:ENSP00000359469", "ENSEMBL:ENSP00000359469.1"], "information_content": 100.0}
{"id": "NCBIGene:343472", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BARHL2", "equivalent_identifiers": ["NCBIGene:343472", "ENSEMBL:ENSG00000143032", "HGNC:954", "OMIM:605212", "UMLS:C1412736", "UniProtKB:Q9NY43", "PR:Q9NY43", "ENSEMBL:ENSP00000359474", "ENSEMBL:ENSP00000359474.3", "UMLS:C1312781", "MESH:C412479"], "information_content": 100.0}
{"id": "NCBIGene:84230", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC8C", "equivalent_identifiers": ["NCBIGene:84230", "ENSEMBL:ENSG00000171488", "HGNC:25075", "OMIM:612889", "UMLS:C1825878", "UniProtKB:Q8TDW0", "PR:Q8TDW0", "ENSEMBL:ENSP00000359483", "ENSEMBL:ENSP00000359483.4"], "information_content": 85.5}
{"id": "UniProtKB:Q8IYB5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stromal membrane-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYB5-1", "PR:Q8IYB5-1", "ENSEMBL:ENSP00000359484", "ENSEMBL:ENSP00000359484.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96PP8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanylate-binding protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PP8-1", "PR:Q96PP8-1", "ENSEMBL:ENSP00000359488", "ENSEMBL:ENSP00000359488.3"], "information_content": 100.0}
{"id": "UniProtKB:P51816-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AF4/FMR2 family member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51816-1", "PR:P51816-1", "ENSEMBL:ENSP00000359489", "ENSEMBL:ENSP00000359489.2"], "information_content": 100.0}
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{"id": "NCBIGene:2634", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GBP2", "equivalent_identifiers": ["NCBIGene:2634", "ENSEMBL:ENSG00000162645", "HGNC:4183", "OMIM:600412", "UMLS:C1415004", "UniProtKB:P32456", "PR:P32456", "ENSEMBL:ENSP00000359497", "ENSEMBL:ENSP00000359497.3", "ENSEMBL:ENSP00000434282", "ENSEMBL:ENSP00000434282.1", "UMLS:C2603470", "MESH:C534329", "UniProtKB:Q8TCE5"], "information_content": 92.8}
{"id": "NCBIGene:2633", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GBP1", "equivalent_identifiers": ["NCBIGene:2633", "ENSEMBL:ENSG00000117228", "HGNC:4182", "OMIM:600411", "UMLS:C1415003", "UniProtKB:P32455", "PR:P32455", "ENSEMBL:ENSP00000359504", "ENSEMBL:ENSP00000359504.4", "UMLS:C1454248", "MESH:C490287"], "information_content": 88.2}
{"id": "NCBIGene:135154", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDHAF4", "equivalent_identifiers": ["NCBIGene:135154", "ENSEMBL:ENSG00000154079", "HGNC:20957", "OMIM:619198", "UMLS:C3889771", "UniProtKB:Q5VUM1", "PR:Q5VUM1", "ENSEMBL:ENSP00000359505", "ENSEMBL:ENSP00000359505.3"], "information_content": 100.0}
{"id": "UniProtKB:Q06787-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fragile X messenger ribonucleoprotein 1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q06787-1", "PR:Q06787-1", "ENSEMBL:ENSP00000359506", "ENSEMBL:ENSP00000359506.5"], "information_content": 100.0}
{"id": "NCBIGene:51076", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CUTC", "equivalent_identifiers": ["NCBIGene:51076", "ENSEMBL:ENSG00000119929", "HGNC:24271", "OMIM:610101", "UMLS:C1539168", "UniProtKB:Q9NTM9", "PR:Q9NTM9", "ENSEMBL:ENSP00000359507", "ENSEMBL:ENSP00000359507.5", "UMLS:C1622770", "MESH:C505249"], "information_content": 95.4}
{"id": "MONDO:0001513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulsating exophthalmos", "equivalent_identifiers": ["MONDO:0001513", "DOID:12364", "UMLS:C0155271", "MEDDRA:10037465", "SNOMEDCT:2284002", "medgen:509887", "icd11.foundation:1825207679", "ICD10:H05.26", "ICD9:376.35"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0R5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanylate-binding protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0R5-1", "PR:Q9H0R5-1", "ENSEMBL:ENSP00000359512", "ENSEMBL:ENSP00000359512.4"], "information_content": 100.0}
{"id": "NCBIGene:55257", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRGBP", "equivalent_identifiers": ["NCBIGene:55257", "ENSEMBL:ENSG00000101189", "HGNC:15866", "OMIM:611157", "UMLS:C1423788", "UniProtKB:Q9NV56", "PR:Q9NV56", "ENSEMBL:ENSP00000359518", "ENSEMBL:ENSP00000359518.3", "UMLS:C1432793", "MESH:C479739"], "information_content": 100.0}
{"id": "NCBIGene:494118", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPANXN1", "equivalent_identifiers": ["NCBIGene:494118", "ENSEMBL:ENSG00000203923", "HGNC:33174", "OMIM:300664", "UMLS:C1823084", "UniProtKB:Q5VSR9", "PR:Q5VSR9", "ENSEMBL:ENSP00000359524", "ENSEMBL:ENSP00000359524.3", "UMLS:C1958303", "UMLS:C2985378", "MESH:C521018"], "information_content": 100.0}
{"id": "UniProtKB:Q96A46-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitoferrin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96A46-1", "PR:Q96A46-1", "ENSEMBL:ENSP00000359526", "ENSEMBL:ENSP00000359526.4"], "information_content": 100.0}
{"id": "NCBIGene:2959", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GTF2B", "equivalent_identifiers": ["NCBIGene:2959", "ENSEMBL:ENSG00000137947", "HGNC:4648", "OMIM:189963", "UMLS:C1333718", "UniProtKB:Q00403", "PR:Q00403", "ENSEMBL:ENSP00000359531", "ENSEMBL:ENSP00000359531.5", "UMLS:C1333809"], "information_content": 88.2}
{"id": "NCBIGene:4923", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NTSR1", "equivalent_identifiers": ["NCBIGene:4923", "ENSEMBL:ENSG00000101188", "HGNC:8039", "OMIM:162651", "UMLS:C1417870", "UniProtKB:P30989", "PR:P30989", "ENSEMBL:ENSP00000359532", "ENSEMBL:ENSP00000359532.3", "UMLS:C1741785", "UMLS:C5445007"], "information_content": 100.0}
{"id": "NCBIGene:139067", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPANXN3", "equivalent_identifiers": ["NCBIGene:139067", "ENSEMBL:ENSG00000189252", "HGNC:33176", "OMIM:300666", "UMLS:C1823086", "UniProtKB:Q5MJ09", "PR:Q5MJ09", "ENSEMBL:ENSP00000359534", "ENSEMBL:ENSP00000359534.2", "UMLS:C1958305", "UMLS:C2985384", "MESH:C521020"], "information_content": 100.0}
{"id": "UniProtKB:P17174-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aspartate aminotransferase, cytoplasmic isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P17174-1", "PR:P17174-1", "ENSEMBL:ENSP00000359539", "ENSEMBL:ENSP00000359539.5"], "information_content": 100.0}
{"id": "NCBIGene:8804", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CREG1", "equivalent_identifiers": ["NCBIGene:8804", "ENSEMBL:ENSG00000143162", "HGNC:2351", "OMIM:618055", "UMLS:C1539137", "UniProtKB:O75629", "PR:O75629", "ENSEMBL:ENSP00000359540", "ENSEMBL:ENSP00000359540.4", "UMLS:C1431452", "MESH:C114068"], "information_content": 83.6}
{"id": "UniProtKB:Q9NS26", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SPNXA_HUMAN Sperm protein associated with the nucleus on the X chromosome A (sprot)", "equivalent_identifiers": ["UniProtKB:Q9NS26", "PR:Q9NS26", "ENSEMBL:ENSP00000359549", "ENSEMBL:ENSP00000359549.3", "ENSEMBL:ENSP00000359550", "ENSEMBL:ENSP00000359550.3", "UMLS:C2985371"], "information_content": 100.0}
{"id": "UniProtKB:Q16513-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase N2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16513-1", "PR:Q16513-1", "ENSEMBL:ENSP00000359552", "ENSEMBL:ENSP00000359552.3"], "information_content": 100.0}
{"id": "NCBIGene:23641", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LDOC1", "equivalent_identifiers": ["NCBIGene:23641", "ENSEMBL:ENSG00000182195", "HGNC:6548", "OMIM:300402", "UMLS:C1416823", "UniProtKB:O95751", "PR:O95751", "ENSEMBL:ENSP00000359557", "ENSEMBL:ENSP00000359557.2", "UMLS:C1317880", "MESH:C120625"], "information_content": 95.4}
{"id": "NCBIGene:6658", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOX3", "equivalent_identifiers": ["NCBIGene:6658", "ENSEMBL:ENSG00000134595", "HGNC:11199", "OMIM:313430", "UMLS:C1420326", "UniProtKB:P41225", "PR:P41225", "ENSEMBL:ENSP00000359567", "ENSEMBL:ENSP00000359567.2", "UMLS:C1568108", "MESH:C527785"], "information_content": 95.4}
{"id": "NCBIGene:347487", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXorf66", "equivalent_identifiers": ["NCBIGene:347487", "ENSEMBL:ENSG00000203933", "HGNC:33743", "UMLS:C2681394", "UniProtKB:Q5JRM2", "PR:Q5JRM2", "ENSEMBL:ENSP00000359571", "ENSEMBL:ENSP00000359571.1", "UMLS:C3884103", "MESH:C000593250"], "information_content": 100.0}
{"id": "NCBIGene:8543", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LMO4", "equivalent_identifiers": ["NCBIGene:8543", "ENSEMBL:ENSG00000143013", "HGNC:6644", "OMIM:603129", "UMLS:C1416883", "UniProtKB:P61968", "PR:P61968", "ENSEMBL:ENSP00000359573", "ENSEMBL:ENSP00000359573.1", "ENSEMBL:ENSP00000359575", "ENSEMBL:ENSP00000359575.4", "UMLS:C1447695", "MESH:C114905"], "information_content": 92.8}
{"id": "ENSEMBL:ENSP00000359579", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000359579", "equivalent_identifiers": ["ENSEMBL:ENSP00000359579"]}
{"id": "MONDO:0008854", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 1", "equivalent_identifiers": ["MONDO:0008854", "DOID:0110123", "OMIM:209900", "EFO:0009021", "UMLS:C2936862", "MESH:C537909", "medgen:422452"], "information_content": 100.0}
{"id": "UniProtKB:Q7LGA3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heparan sulfate 2-O-sulfotransferase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7LGA3-1", "PR:Q7LGA3-1", "ENSEMBL:ENSP00000359581", "ENSEMBL:ENSP00000359581.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWQ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive heparanase-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWQ2-1", "PR:Q8WWQ2-1", "ENSEMBL:ENSP00000359583", "ENSEMBL:ENSP00000359583.3"], "information_content": 100.0}
{"id": "UniProtKB:Q14CN2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-activated chloride channel regulator 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14CN2-1", "PR:Q14CN2-1", "ENSEMBL:ENSP00000359594", "ENSEMBL:ENSP00000359594.3"], "information_content": 100.0}
{"id": "NCBIGene:9635", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLCA2", "equivalent_identifiers": ["NCBIGene:9635", "ENSEMBL:ENSG00000137975", "HGNC:2016", "OMIM:604003", "UMLS:C1332764", "UniProtKB:Q9UQC9", "PR:Q9UQC9", "ENSEMBL:ENSP00000359596", "ENSEMBL:ENSP00000359596.4", "UMLS:C1447742", "MESH:C120066"], "information_content": 95.4}
{"id": "UniProtKB:Q17RW2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XXIV) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q17RW2-1", "PR:Q17RW2-1", "ENSEMBL:ENSP00000359603", "ENSEMBL:ENSP00000359603.2"], "information_content": 100.0}
{"id": "NCBIGene:84795", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PYROXD2", "equivalent_identifiers": ["NCBIGene:84795", "ENSEMBL:ENSG00000119943", "HGNC:23517", "OMIM:617889", "UMLS:C1428119", "UniProtKB:Q8N2H3", "PR:Q8N2H3", "ENSEMBL:ENSP00000359607", "ENSEMBL:ENSP00000359607.4"], "information_content": 92.8}
{"id": "UniProtKB:Q8TDD5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mucolipin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDD5-1", "PR:Q8TDD5-1", "ENSEMBL:ENSP00000359621", "ENSEMBL:ENSP00000359621.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ79-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cartilage acidic protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ79-1", "PR:Q9NQ79-1", "ENSEMBL:ENSP00000359629", "ENSEMBL:ENSP00000359629.3"], "information_content": 100.0}
{"id": "UniProtKB:O60242-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G protein-coupled receptor B3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60242-1", "PR:O60242-1", "ENSEMBL:ENSP00000359630", "ENSEMBL:ENSP00000359630.1", "ENSEMBL:ENSP00000441821", "ENSEMBL:ENSP00000441821.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZK6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mucolipin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZK6-1", "PR:Q8IZK6-1", "ENSEMBL:ENSP00000359640", "ENSEMBL:ENSP00000359640.3"], "information_content": 100.0}
{"id": "NCBIGene:23566", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LPAR3", "equivalent_identifiers": ["NCBIGene:23566", "ENSEMBL:ENSG00000171517", "HGNC:14298", "OMIM:605106", "UMLS:C1422553", "UniProtKB:Q9UBY5", "PR:Q9UBY5", "ENSEMBL:ENSP00000359643", "ENSEMBL:ENSP00000359643.3", "ENSEMBL:ENSP00000395389", "ENSEMBL:ENSP00000395389.1", "UMLS:C3816180", "UMLS:C5391755", "MESH:C000707150"], "information_content": 100.0}
{"id": "UniProtKB:P38159-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding motif protein, X chromosome isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P38159-1", "PR:P38159-1", "ENSEMBL:ENSP00000359645", "ENSEMBL:ENSP00000359645.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5T1H1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein eyes shut homolog isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q5T1H1-3", "PR:Q5T1H1-3", "ENSEMBL:ENSP00000359655", "ENSEMBL:ENSP00000359655.3"], "information_content": 100.0}
{"id": "MONDO:0031166", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "macular dystrophy, retinal", "equivalent_identifiers": ["MONDO:0031166", "DOID:0070438", "OMIM.PS:136550"], "information_content": 89.4}
{"id": "NCBIGene:959", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD40LG", "equivalent_identifiers": ["NCBIGene:959", "ENSEMBL:ENSG00000102245", "HGNC:11935", "OMIM:300386", "UMLS:C1539082", "UniProtKB:P29965", "PR:P29965", "ENSEMBL:ENSP00000359663", "ENSEMBL:ENSP00000359663.2", "UMLS:C0167627", "UMLS:C3887583", "MESH:D023201"], "information_content": 75.5}
{"id": "NCBIGene:1486", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTBS", "equivalent_identifiers": ["NCBIGene:1486", "ENSEMBL:ENSG00000117151", "HGNC:2496", "OMIM:600873", "UMLS:C1413789", "UniProtKB:Q01459", "PR:Q01459", "ENSEMBL:ENSP00000359664", "ENSEMBL:ENSP00000359664.4", "UniProtKB:Q8TC97"], "information_content": 95.4}
{"id": "MONDO:0012091", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 32", "equivalent_identifiers": ["MONDO:0012091", "DOID:0110491", "OMIM:608653", "UMLS:C1837608", "MESH:C563884", "medgen:373370"], "information_content": 100.0}
{"id": "NCBIGene:55361", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PI4K2A", "equivalent_identifiers": ["NCBIGene:55361", "ENSEMBL:ENSG00000155252", "HGNC:30031", "OMIM:609763", "UMLS:C1857831", "UniProtKB:Q9BTU6", "PR:Q9BTU6", "ENSEMBL:ENSP00000359665", "ENSEMBL:ENSP00000359665.3", "UMLS:C2604071"], "information_content": 92.8}
{"id": "NCBIGene:51442", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VGLL1", "equivalent_identifiers": ["NCBIGene:51442", "ENSEMBL:ENSG00000102243", "HGNC:20985", "OMIM:300583", "UMLS:C1427223", "UniProtKB:Q99990", "PR:Q99990", "ENSEMBL:ENSP00000359668", "ENSEMBL:ENSP00000359668.3", "UMLS:C0910262", "MESH:C400682"], "information_content": 100.0}
{"id": "NCBIGene:2787", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNG5", "equivalent_identifiers": ["NCBIGene:2787", "ENSEMBL:ENSG00000174021", "HGNC:4408", "OMIM:600874", "UMLS:C1415158", "UniProtKB:P63218", "PR:P63218", "ENSEMBL:ENSP00000359675", "ENSEMBL:ENSP00000359675.3", "ENSEMBL:ENSP00000359679", "ENSEMBL:ENSP00000359679.4", "ENSEMBL:ENSP00000510172", "ENSEMBL:ENSP00000510172.1", "UMLS:C4505743", "MESH:C000614654"], "information_content": 89.4}
{"id": "UniProtKB:Q86XE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XE5-1", "PR:Q86XE5-1", "ENSEMBL:ENSP00000359680", "ENSEMBL:ENSP00000359680.4"], "information_content": 100.0}
{"id": "NCBIGene:680", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BRS3", "equivalent_identifiers": ["NCBIGene:680", "ENSEMBL:ENSG00000102239", "HGNC:1113", "OMIM:300107", "UMLS:C1332451", "UniProtKB:P32247", "PR:P32247", "ENSEMBL:ENSP00000359682", "ENSEMBL:ENSP00000359682.3", "UMLS:C4048263"], "information_content": 95.4}
{"id": "NCBIGene:80135", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPF1", "equivalent_identifiers": ["NCBIGene:80135", "ENSEMBL:ENSG00000117133", "HGNC:30350", "UMLS:C1823198", "UniProtKB:Q9H9Y2", "PR:Q9H9Y2", "ENSEMBL:ENSP00000359688", "ENSEMBL:ENSP00000359688.5"], "information_content": 90.9}
{"id": "UniProtKB:Q5TDP6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lengsin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TDP6-1", "PR:Q5TDP6-1", "ENSEMBL:ENSP00000359691", "ENSEMBL:ENSP00000359691.4"], "information_content": 100.0}
{"id": "NCBIGene:642489", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FKBP1C", "equivalent_identifiers": ["NCBIGene:642489", "ENSEMBL:ENSG00000198225", "HGNC:21376", "UMLS:C1427522", "UniProtKB:Q5VVH2", "PR:Q5VVH2", "ENSEMBL:ENSP00000359693", "ENSEMBL:ENSP00000359693.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WZ79-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deoxyribonuclease-2-beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WZ79-1", "PR:Q8WZ79-1", "ENSEMBL:ENSP00000359699", "ENSEMBL:ENSP00000359699.3"], "information_content": 100.0}
{"id": "UniProtKB:P22694-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cAMP-dependent protein kinase catalytic subunit beta isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P22694-2", "PR:P22694-2", "ENSEMBL:ENSP00000359719", "ENSEMBL:ENSP00000359719.3"], "information_content": 100.0}
{"id": "UniProtKB:O95816-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BAG family molecular chaperone regulator 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95816-1", "PR:O95816-1", "ENSEMBL:ENSP00000359727", "ENSEMBL:ENSP00000359727.4"], "information_content": 100.0}
{"id": "UniProtKB:Q92581-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/hydrogen exchanger 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92581-2", "PR:Q92581-2", "ENSEMBL:ENSP00000359729", "ENSEMBL:ENSP00000359729.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4E5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 SUMO-protein ligase ZNF451 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4E5-1", "PR:Q9Y4E5-1", "ENSEMBL:ENSP00000359740", "ENSEMBL:ENSP00000359740.4"], "information_content": 100.0}
{"id": "UniProtKB:O95490-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G protein-coupled receptor L2 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:O95490-5", "PR:O95490-5", "ENSEMBL:ENSP00000359765", "ENSEMBL:ENSP00000359765.1", "ENSEMBL:ENSP00000501462", "ENSEMBL:ENSP00000501462.1"], "information_content": 100.0}
{"id": "NCBIGene:64123", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADGRL4", "equivalent_identifiers": ["NCBIGene:64123", "ENSEMBL:ENSG00000162618", "HGNC:20822", "OMIM:616419", "UMLS:C1427152", "UniProtKB:Q9HBW9", "PR:Q9HBW9", "ENSEMBL:ENSP00000359778", "ENSEMBL:ENSP00000359778.3", "UMLS:C1259391", "MESH:C428324"], "information_content": 95.4}
{"id": "UniProtKB:Q5SZJ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BEN domain-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SZJ8-1", "PR:Q5SZJ8-1", "ENSEMBL:ENSP00000359782", "ENSEMBL:ENSP00000359782.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCB0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon-induced protein 44 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCB0-1", "PR:Q8TCB0-1", "ENSEMBL:ENSP00000359783", "ENSEMBL:ENSP00000359783.4"], "information_content": 100.0}
{"id": "UniProtKB:Q53G44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon-induced protein 44-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53G44-1", "PR:Q53G44-1", "ENSEMBL:ENSP00000359787", "ENSEMBL:ENSP00000359787.4"], "information_content": 100.0}
{"id": "UniProtKB:P43088-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostaglandin F2-alpha receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43088-1", "PR:P43088-1", "ENSEMBL:ENSP00000359793", "ENSEMBL:ENSP00000359793.3", "ENSEMBL:ENSP00000359794", "ENSEMBL:ENSP00000359794.1"], "information_content": 100.0}
{"id": "MONDO:0001466", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "punctate epithelial keratoconjunctivitis", "equivalent_identifiers": ["MONDO:0001466", "DOID:12197", "UMLS:C0259799", "UMLS:C1562761", "MEDDRA:10023338", "MEDDRA:10037508", "MEDDRA:10053772", "SNOMEDCT:416069001", "SNOMEDCT:416300008", "SNOMEDCT:42513006", "medgen:736733", "ICD10:H16.14", "ICD9:370.21", "HP:0011859"], "information_content": 100.0}
{"id": "NCBIGene:11080", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJB4", "equivalent_identifiers": ["NCBIGene:11080", "ENSEMBL:ENSG00000162616", "HGNC:14886", "OMIM:611327", "UMLS:C1423025", "UniProtKB:B4DNN2", "UniProtKB:Q9UDY4", "PR:Q9UDY4", "ENSEMBL:ENSP00000359799", "ENSEMBL:ENSP00000359799.5", "UMLS:C0626501", "MESH:C494650"], "information_content": 92.8}
{"id": "UniProtKB:Q96AE4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "far upstream element-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AE4-1", "PR:Q96AE4-1", "ENSEMBL:ENSP00000359804", "ENSEMBL:ENSP00000359804.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96T76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MMS19 nucleotide excision repair protein homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96T76-1", "PR:Q96T76-1", "ENSEMBL:ENSP00000359818", "ENSEMBL:ENSP00000359818.1", "ENSEMBL:ENSP00000412698", "ENSEMBL:ENSP00000412698.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6P4D5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PABIR family member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P4D5-1", "PR:Q6P4D5-1", "ENSEMBL:ENSP00000359820", "ENSEMBL:ENSP00000359820.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TEY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 33 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEY7-1", "PR:Q8TEY7-1", "ENSEMBL:ENSP00000350009", "ENSEMBL:ENSP00000350009.1", "ENSEMBL:ENSP00000359829", "ENSEMBL:ENSP00000359829.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYH5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ZZ-type zinc finger-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYH5-1", "PR:Q8IYH5-1", "ENSEMBL:ENSP00000359837", "ENSEMBL:ENSP00000359837.3"], "information_content": 100.0}
{"id": "UniProtKB:Q92643-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GPI-anchor transamidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92643-1", "PR:Q92643-1", "ENSEMBL:ENSP00000359848", "ENSEMBL:ENSP00000359848.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H4K7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial ribosome-associated GTPase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4K7-1", "PR:Q9H4K7-1", "ENSEMBL:ENSP00000359859", "ENSEMBL:ENSP00000359859.3"], "information_content": 100.0}
{"id": "MONDO:0003632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endocervicitis", "equivalent_identifiers": ["MONDO:0003632", "DOID:5757", "UMLS:C0014127", "MEDDRA:10014690", "NCIT:C26762", "SNOMEDCT:31354001", "medgen:4942", "icd11.foundation:803236221"], "information_content": 100.0}
{"id": "UniProtKB:O75487-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glypican-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75487-1", "PR:O75487-1", "ENSEMBL:ENSP00000359864", "ENSEMBL:ENSP00000359864.3"], "information_content": 100.0}
{"id": "UniProtKB:P22003-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bone morphogenetic protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P22003-1", "PR:P22003-1", "ENSEMBL:ENSP00000359866", "ENSEMBL:ENSP00000359866.3"], "information_content": 95.4}
{"id": "MONDO:0002710", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infiltrating angiolipoma", "equivalent_identifiers": ["MONDO:0002710", "DOID:3615", "UMLS:C1305256", "NCIT:C7449", "medgen:227009"], "information_content": 100.0}
{"id": "NCBIGene:34", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACADM", "equivalent_identifiers": ["NCBIGene:34", "ENSEMBL:ENSG00000117054", "HGNC:89", "OMIM:607008", "UMLS:C1412107", "UniProtKB:A0A0S2Z366", "UniProtKB:B4DJE7", "UniProtKB:B7Z9I1", "UniProtKB:P11310", "PR:P11310", "UMLS:C2826551", "MESH:C000729305", "UniProtKB:Q5T4U5", "ENSEMBL:ENSP00000359871", "ENSEMBL:ENSP00000359871.5"]}
{"id": "UniProtKB:Q9NUK0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "muscleblind-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUK0-1", "PR:Q9NUK0-1", "ENSEMBL:ENSP00000359890", "ENSEMBL:ENSP00000359890.3", "ENSEMBL:ENSP00000513866", "ENSEMBL:ENSP00000513866.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCS7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choline transporter-like protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCS7-1", "PR:Q8NCS7-1", "ENSEMBL:ENSP00000359892", "ENSEMBL:ENSP00000359892.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6IPR3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA wybutosine-synthesizing protein 3 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IPR3-1", "PR:Q6IPR3-1", "ENSEMBL:ENSP00000359904", "ENSEMBL:ENSP00000359904.3"], "information_content": 100.0}
{"id": "UniProtKB:O14818-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome subunit alpha type-7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14818-1", "PR:O14818-1", "ENSEMBL:ENSP00000359910", "ENSEMBL:ENSP00000359910.4"], "information_content": 100.0}
{"id": "NCBIGene:57826", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAP2C", "equivalent_identifiers": ["NCBIGene:57826", "ENSEMBL:ENSG00000123728", "HGNC:21165", "OMIM:301016", "UMLS:C1427380", "UniProtKB:A0A087X2C3", "ENSEMBL:ENSP00000484870", "ENSEMBL:ENSP00000484870.1", "UniProtKB:Q9Y3L5", "PR:Q9Y3L5", "ENSEMBL:ENSP00000340274", "ENSEMBL:ENSP00000340274.2", "ENSEMBL:ENSP00000359911", "ENSEMBL:ENSP00000359911.1"], "information_content": 92.8}
{"id": "UniProtKB:Q9BTT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTT6-1", "PR:Q9BTT6-1", "ENSEMBL:ENSP00000359925", "ENSEMBL:ENSP00000359925.1"], "information_content": 100.0}
{"id": "NCBIGene:8790", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FPGT", "equivalent_identifiers": ["NCBIGene:8790", "ENSEMBL:ENSG00000254685", "HGNC:3825", "OMIM:603609", "UMLS:C1414690", "UniProtKB:A0A0S2Z4P4", "UniProtKB:A0A0S2Z5C6", "ENSEMBL:ENSP00000359935", "ENSEMBL:ENSP00000359935.4", "UniProtKB:O14772", "PR:O14772"]}
{"id": "NCBIGene:51013", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXOSC1", "equivalent_identifiers": ["NCBIGene:51013", "ENSEMBL:ENSG00000171311", "HGNC:17286", "OMIM:606493", "UMLS:C1424876", "UniProtKB:B1AMU3", "ENSEMBL:ENSP00000359922", "ENSEMBL:ENSP00000359922.4", "UMLS:C3491504", "MESH:C571395", "UniProtKB:Q9Y3B2", "PR:Q9Y3B2", "ENSEMBL:ENSP00000359939", "ENSEMBL:ENSP00000359939.3"], "information_content": 90.9}
{"id": "UniProtKB:Q8N6C5-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "immunoglobulin superfamily member 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6C5-4", "PR:Q8N6C5-4", "ENSEMBL:ENSP00000359940", "ENSEMBL:ENSP00000359940.3"], "information_content": 100.0}
{"id": "NCBIGene:401265", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHL31", "equivalent_identifiers": ["NCBIGene:401265", "ENSEMBL:ENSG00000124743", "HGNC:21353", "OMIM:610749", "UMLS:C1825732", "UniProtKB:Q9H511", "PR:Q9H511", "ENSEMBL:ENSP00000359942", "ENSEMBL:ENSP00000359942.3", "ENSEMBL:ENSP00000384644", "ENSEMBL:ENSP00000384644.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYP7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "very long chain fatty acid elongase 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYP7-2", "PR:Q9NYP7-2", "ENSEMBL:ENSP00000359956", "ENSEMBL:ENSP00000359956.5"], "information_content": 100.0}
{"id": "MONDO:0013410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "46,XY sex reversal 6", "equivalent_identifiers": ["MONDO:0013410", "DOID:0111769", "OMIM:613762", "UMLS:C3151064", "medgen:462414"], "information_content": 100.0}
{"id": "UniProtKB:O95218-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger Ran-binding domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95218-1", "PR:O95218-1", "ENSEMBL:ENSP00000359958", "ENSEMBL:ENSP00000359958.3"], "information_content": 100.0}
{"id": "UniProtKB:P32929-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cystathionine gamma-lyase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P32929-1", "PR:P32929-1", "ENSEMBL:ENSP00000359976", "ENSEMBL:ENSP00000359976.3"], "information_content": 100.0}
{"id": "UniProtKB:Q05519-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/arginine-rich splicing factor 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q05519-1", "PR:Q05519-1", "ENSEMBL:ENSP00000359987", "ENSEMBL:ENSP00000359987.2", "ENSEMBL:ENSP00000359988", "ENSEMBL:ENSP00000359988.3"], "information_content": 100.0}
{"id": "NCBIGene:5223", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGAM1", "equivalent_identifiers": ["NCBIGene:5223", "ENSEMBL:ENSG00000171314", "HGNC:8888", "OMIM:172250", "UMLS:C1418501", "UniProtKB:B7Z9E5", "UniProtKB:P18669", "PR:P18669", "ENSEMBL:ENSP00000359991", "ENSEMBL:ENSP00000359991.4", "UMLS:C4307794", "MESH:C000611372", "UniProtKB:Q6FHU2"], "information_content": 90.9}
{"id": "UniProtKB:O15217-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione S-transferase A4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15217-1", "PR:O15217-1", "ENSEMBL:ENSP00000359998", "ENSEMBL:ENSP00000359998.1", "ENSEMBL:ENSP00000360002", "ENSEMBL:ENSP00000360002.4"], "information_content": 100.0}
{"id": "NCBIGene:55609", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF280C", "equivalent_identifiers": ["NCBIGene:55609", "ENSEMBL:ENSG00000056277", "HGNC:25955", "UMLS:C1539891", "UniProtKB:Q8ND82", "PR:Q8ND82", "ENSEMBL:ENSP00000360017", "ENSEMBL:ENSP00000360017.4", "UMLS:C5196613", "MESH:C000629708"], "information_content": 95.4}
{"id": "NCBIGene:9077", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DIRAS3", "equivalent_identifiers": ["NCBIGene:9077", "ENSEMBL:ENSG00000162595", "HGNC:687", "OMIM:605193", "UMLS:C1539291", "UniProtKB:O95661", "PR:O95661", "ENSEMBL:ENSP00000360020", "ENSEMBL:ENSP00000360020.1", "ENSEMBL:ENSP00000495736", "ENSEMBL:ENSP00000495736.1", "ENSEMBL:ENSP00000509833", "ENSEMBL:ENSP00000509833.1", "ENSEMBL:ENSP00000510070", "ENSEMBL:ENSP00000510070.1", "UMLS:C0763637", "MESH:C117386"], "information_content": 95.4}
{"id": "NCBIGene:55970", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNG12", "equivalent_identifiers": ["NCBIGene:55970", "ENSEMBL:ENSG00000172380", "HGNC:19663", "OMIM:615405", "UMLS:C1426313", "UniProtKB:Q9UBI6", "PR:Q9UBI6", "ENSEMBL:ENSP00000360021", "ENSEMBL:ENSP00000360021.3", "UMLS:C3829926", "UMLS:C5433748", "MESH:C000709552"], "information_content": 95.4}
{"id": "MONDO:0014736", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2Z", "equivalent_identifiers": ["MONDO:0014736", "DOID:0110181", "OMIM:616688", "orphanet:466768", "UMLS:C5569025", "SNOMEDCT:1187564009", "medgen:1800448"], "information_content": 100.0}
{"id": "UniProtKB:P24522-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "growth arrest and DNA damage-inducible protein GADD45 alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P24522-1", "PR:P24522-1", "ENSEMBL:ENSP00000360025", "ENSEMBL:ENSP00000360025.4"], "information_content": 100.0}
{"id": "NCBIGene:221357", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSTA5", "equivalent_identifiers": ["NCBIGene:221357", "ENSEMBL:ENSG00000182793", "HGNC:19662", "OMIM:607605", "UMLS:C1426312", "UniProtKB:Q7RTV2", "PR:Q7RTV2", "ENSEMBL:ENSP00000360028", "ENSEMBL:ENSP00000360028.1", "UMLS:C1433110"], "information_content": 100.0}
{"id": "UniProtKB:Q8NC51-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SERPINE1 mRNA-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NC51-1", "PR:Q8NC51-1", "ENSEMBL:ENSP00000360034", "ENSEMBL:ENSP00000360034.2"], "information_content": 100.0}
{"id": "NCBIGene:5509", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R3D", "equivalent_identifiers": ["NCBIGene:5509", "ENSEMBL:ENSG00000132825", "HGNC:9294", "OMIM:603326", "UMLS:C1418831", "UniProtKB:O95685", "PR:O95685", "ENSEMBL:ENSP00000360035", "ENSEMBL:ENSP00000360035.3", "UMLS:C3710585", "MESH:C585576", "UniProtKB:Q86X09"], "information_content": 100.0}
{"id": "DOID:4378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peanut allergy", "equivalent_identifiers": ["DOID:4378", "EFO:0007425", "UMLS:C0559470", "MESH:D021183", "MEDDRA:10034202", "SNOMEDCT:91935009"]}
{"id": "UniProtKB:Q5JVX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C1orf141 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JVX7-1", "PR:Q5JVX7-1", "ENSEMBL:ENSP00000360045", "ENSEMBL:ENSP00000360045.1", "ENSEMBL:ENSP00000360046", "ENSEMBL:ENSP00000360046.1", "ENSEMBL:ENSP00000507487", "ENSEMBL:ENSP00000507487.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96KR7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatase and actin regulator 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96KR7-1", "PR:Q96KR7-1", "ENSEMBL:ENSP00000360054", "ENSEMBL:ENSP00000360054.1"], "information_content": 100.0}
{"id": "NCBIGene:23401", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FRAT2", "equivalent_identifiers": ["NCBIGene:23401", "ENSEMBL:ENSG00000181274", "HGNC:16048", "OMIM:605006", "UMLS:C1423938", "UniProtKB:O75474", "PR:O75474", "ENSEMBL:ENSP00000360058", "ENSEMBL:ENSP00000360058.2", "UMLS:C0909303", "MESH:C491817"], "information_content": 100.0}
{"id": "MONDO:0009019", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital hereditary endothelial dystrophy of cornea", "equivalent_identifiers": ["MONDO:0009019", "DOID:0060649", "OMIM:217700", "orphanet:293603", "UMLS:C1857569", "MESH:C536439", "SNOMEDCT:417395001", "medgen:387857"], "information_content": 100.0}
{"id": "NCBIGene:10023", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FRAT1", "equivalent_identifiers": ["NCBIGene:10023", "ENSEMBL:ENSG00000165879", "HGNC:3944", "OMIM:602503", "UMLS:C1333576", "UniProtKB:Q92837", "PR:Q92837", "ENSEMBL:ENSP00000360060", "ENSEMBL:ENSP00000360060.3", "UMLS:C1335561", "MESH:C491819"], "information_content": 100.0}
{"id": "UniProtKB:Q5VTH9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal intermediate chain 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VTH9-1", "PR:Q5VTH9-1", "ENSEMBL:ENSP00000360065", "ENSEMBL:ENSP00000360065.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQI5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH3-containing GRB2-like protein 3-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQI5-1", "PR:Q9BQI5-1", "ENSEMBL:ENSP00000360076", "ENSEMBL:ENSP00000360076.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5JVL4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EF-hand domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JVL4-1", "PR:Q5JVL4-1", "ENSEMBL:ENSP00000360107", "ENSEMBL:ENSP00000360107.4"], "information_content": 100.0}
{"id": "UniProtKB:O75061-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "auxilin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75061-2", "PR:O75061-2", "ENSEMBL:ENSP00000360108", "ENSEMBL:ENSP00000360108.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCJ3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribonucleoprotein PTB-binding 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCJ3-2", "PR:Q9HCJ3-2", "ENSEMBL:ENSP00000360112", "ENSEMBL:ENSP00000360112.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5VVX9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 U isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5VVX9-2", "PR:Q5VVX9-2", "ENSEMBL:ENSP00000360116", "ENSEMBL:ENSP00000360116.3"], "information_content": 100.0}
{"id": "UniProtKB:Q01973-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q01973-1", "PR:Q01973-1", "ENSEMBL:ENSP00000360120", "ENSEMBL:ENSP00000360120.1"], "information_content": 100.0}
{"id": "UniProtKB:P36871-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoglucomutase-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P36871-2", "PR:P36871-2", "ENSEMBL:ENSP00000360124", "ENSEMBL:ENSP00000360124.4"], "information_content": 100.0}
{"id": "UniProtKB:A8K855-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EF-hand calcium-binding domain-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A8K855-1", "PR:A8K855-1", "ENSEMBL:ENSP00000360129", "ENSEMBL:ENSP00000360129.4"], "information_content": 100.0}
{"id": "UniProtKB:Q13352-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centromere protein R isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q13352-5", "PR:Q13352-5", "ENSEMBL:ENSP00000360133", "ENSEMBL:ENSP00000360133.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5JWF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein G(s) subunit alpha isoform XLas-1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JWF2-1", "PR:Q5JWF2-1", "ENSEMBL:ENSP00000360141", "ENSEMBL:ENSP00000360141.3"], "information_content": 100.0}
{"id": "NCBIGene:7512", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XPNPEP2", "equivalent_identifiers": ["NCBIGene:7512", "ENSEMBL:ENSG00000122121", "HGNC:12823", "OMIM:300145", "UMLS:C1421543", "UniProtKB:O43895", "PR:O43895", "ENSEMBL:ENSP00000360147", "ENSEMBL:ENSP00000360147.3", "UMLS:C1453671"], "information_content": 100.0}
{"id": "UniProtKB:Q01968-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol polyphosphate 5-phosphatase OCRL isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q01968-1", "PR:Q01968-1", "ENSEMBL:ENSP00000360154", "ENSEMBL:ENSP00000360154.4"], "information_content": 100.0}
{"id": "NCBIGene:27022", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXD3", "equivalent_identifiers": ["NCBIGene:27022", "ENSEMBL:ENSG00000187140", "HGNC:3804", "OMIM:611539", "UMLS:C1414672", "UniProtKB:Q9UJU5", "PR:Q9UJU5", "ENSEMBL:ENSP00000360157", "ENSEMBL:ENSP00000360157.2", "UMLS:C1609796", "UMLS:C2984893", "MESH:C503514"], "information_content": 100.0}
{"id": "UniProtKB:P08F94-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibrocystin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08F94-1", "PR:P08F94-1", "ENSEMBL:ENSP00000360158", "ENSEMBL:ENSP00000360158.3"], "information_content": 100.0}
{"id": "MONDO:0001382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatorenal syndrome", "equivalent_identifiers": ["MONDO:0001382", "DOID:11823", "UMLS:C0019212", "MESH:D006530", "MEDDRA:10016148", "MEDDRA:10019845", "MEDDRA:10019846", "MEDDRA:10042815", "NCIT:C113400", "SNOMEDCT:51292008", "medgen:9224", "icd11.foundation:1015890899", "ICD10:K76.7", "ICD9:572.4"], "information_content": 100.0}
{"id": "NCBIGene:6594", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMARCA1", "equivalent_identifiers": ["NCBIGene:6594", "ENSEMBL:ENSG00000102038", "HGNC:11097", "OMIM:300012", "UMLS:C1335840", "UniProtKB:A0A0A0MRP6", "ENSEMBL:ENSP00000360164", "ENSEMBL:ENSP00000360164.2", "UniProtKB:B7ZLQ5", "ENSEMBL:ENSP00000360162", "ENSEMBL:ENSP00000360162.4", "UniProtKB:P28370", "PR:P28370", "UMLS:C0165820", "MESH:C499336"]}
{"id": "NCBIGene:139741", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTRT1", "equivalent_identifiers": ["NCBIGene:139741", "ENSEMBL:ENSG00000123165", "HGNC:24027", "OMIM:300487", "UMLS:C1826404", "UniProtKB:Q8TDG2", "PR:Q8TDG2", "ENSEMBL:ENSP00000360165", "ENSEMBL:ENSP00000360165.3", "UMLS:C1449104", "MESH:C107063"], "information_content": 100.0}
{"id": "NCBIGene:139170", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCAF12L1", "equivalent_identifiers": ["NCBIGene:139170", "ENSEMBL:ENSG00000198889", "HGNC:29395", "UMLS:C1538081", "UniProtKB:Q5VU92", "PR:Q5VU92", "ENSEMBL:ENSP00000360167", "ENSEMBL:ENSP00000360167.1"], "information_content": 100.0}
{"id": "NCBIGene:27329", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANGPTL3", "equivalent_identifiers": ["NCBIGene:27329", "ENSEMBL:ENSG00000132855", "HGNC:491", "OMIM:604774", "UMLS:C1412401", "UniProtKB:Q9Y5C1", "PR:Q9Y5C1", "ENSEMBL:ENSP00000360170", "ENSEMBL:ENSP00000360170.3", "UMLS:C1433022", "MESH:C479896"], "information_content": 89.4}
{"id": "UniProtKB:O60880-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH2 domain-containing protein 1A isoform A (human)", "equivalent_identifiers": ["UniProtKB:O60880-1", "PR:O60880-1", "ENSEMBL:ENSP00000360181", "ENSEMBL:ENSP00000360181.5", "ENSEMBL:ENSP00000513571", "ENSEMBL:ENSP00000513571.1", "ENSEMBL:ENSP00000513572", "ENSEMBL:ENSP00000513572.1", "ENSEMBL:ENSP00000513574", "ENSEMBL:ENSP00000513574.1"], "information_content": 100.0}
{"id": "UniProtKB:O14662-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-16 isoform B (human)", "equivalent_identifiers": ["UniProtKB:O14662-1", "PR:O14662-1", "ENSEMBL:ENSP00000360183", "ENSEMBL:ENSP00000360183.4"], "information_content": 100.0}
{"id": "UniProtKB:Q30KQ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-defensin 110 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q30KQ9-1", "PR:Q30KQ9-1", "ENSEMBL:ENSP00000360190", "ENSEMBL:ENSP00000360190.2"], "information_content": 100.0}
{"id": "NCBIGene:164284", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APCDD1L", "equivalent_identifiers": ["NCBIGene:164284", "ENSEMBL:ENSG00000198768", "HGNC:26892", "UMLS:C1824089", "UniProtKB:B4DDQ9", "UniProtKB:Q8NCL9", "PR:Q8NCL9", "ENSEMBL:ENSP00000360191", "ENSEMBL:ENSP00000360191.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5T7N3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KN motif and ankyrin repeat domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T7N3-1", "PR:Q5T7N3-1", "ENSEMBL:ENSP00000360195", "ENSEMBL:ENSP00000360195.4"], "information_content": 100.0}
{"id": "NCBIGene:128602", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIMIP1", "equivalent_identifiers": ["NCBIGene:128602", "ENSEMBL:ENSG00000124237", "HGNC:16216", "OMIM:619277", "UMLS:C1424092", "UniProtKB:Q9H1P6", "PR:Q9H1P6", "ENSEMBL:ENSP00000360210", "ENSEMBL:ENSP00000360210.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96PE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "opalin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PE5-1", "PR:Q96PE5-1", "ENSEMBL:ENSP00000360214", "ENSEMBL:ENSP00000360214.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H171-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Z-DNA-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H171-1", "PR:Q9H171-1", "ENSEMBL:ENSP00000360215", "ENSEMBL:ENSP00000360215.3"], "information_content": 100.0}
{"id": "UniProtKB:P04053-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA nucleotidylexotransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P04053-1", "PR:P04053-1", "ENSEMBL:ENSP00000360216", "ENSEMBL:ENSP00000360216.2"], "information_content": 100.0}
{"id": "UniProtKB:Q02094-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ammonium transporter Rh type A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02094-1", "PR:Q02094-1", "ENSEMBL:ENSP00000360217", "ENSEMBL:ENSP00000360217.4"], "information_content": 100.0}
{"id": "MONDO:0012181", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 27", "equivalent_identifiers": ["MONDO:0012181", "DOID:0110778", "OMIM:609041", "orphanet:101007", "UMLS:C1836899", "MESH:C563807", "SNOMEDCT:778030005", "medgen:373203"], "information_content": 100.0}
{"id": "MONDO:0013132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 36", "equivalent_identifiers": ["MONDO:0013132", "DOID:0110787", "OMIM:613096", "orphanet:320365", "UMLS:C2936879", "MESH:C567930", "SNOMEDCT:723819007", "medgen:422457"], "information_content": 100.0}
{"id": "UniProtKB:Q12857-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor 1 A-type isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q12857-4", "PR:Q12857-4", "ENSEMBL:ENSP00000360231", "ENSEMBL:ENSP00000360231.3"], "information_content": 100.0}
{"id": "MONDO:0011244", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Marshall-Smith syndrome", "equivalent_identifiers": ["MONDO:0011244", "DOID:0050858", "OMIM:602535", "orphanet:561", "UMLS:C0265211", "MESH:C536026", "SNOMEDCT:73284007", "medgen:75551", "icd11.foundation:417951600"], "information_content": 100.0}
{"id": "NCBIGene:331", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XIAP", "equivalent_identifiers": ["NCBIGene:331", "ENSEMBL:ENSG00000101966", "HGNC:592", "OMIM:300079", "UMLS:C1337109", "UniProtKB:B2R9R2", "UniProtKB:P98170", "PR:P98170", "ENSEMBL:ENSP00000347858", "ENSEMBL:ENSP00000347858.3", "ENSEMBL:ENSP00000360242", "ENSEMBL:ENSP00000360242.3", "ENSEMBL:ENSP00000405529", "ENSEMBL:ENSP00000405529.2", "UMLS:C1173600", "MESH:C496866"], "information_content": 88.2}
{"id": "NCBIGene:1573", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP2J2", "equivalent_identifiers": ["NCBIGene:1573", "ENSEMBL:ENSG00000134716", "HGNC:2634", "OMIM:601258", "UMLS:C1413880", "UniProtKB:P51589", "PR:P51589", "ENSEMBL:ENSP00000360247", "ENSEMBL:ENSP00000360247.3", "UMLS:C5565351", "MESH:C000717350"], "information_content": 100.0}
{"id": "UniProtKB:P49961-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ectonucleoside triphosphate diphosphohydrolase 1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:P49961-6", "PR:P49961-6", "ENSEMBL:ENSP00000360250", "ENSEMBL:ENSP00000360250.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJC3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Hook homolog 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJC3-1", "PR:Q9UJC3-1", "ENSEMBL:ENSP00000360252", "ENSEMBL:ENSP00000360252.3"], "information_content": 100.0}
{"id": "NCBIGene:221391", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OPN5", "equivalent_identifiers": ["NCBIGene:221391", "ENSEMBL:ENSG00000124818", "HGNC:19992", "OMIM:609042", "UMLS:C1426589", "UniProtKB:Q6U736", "PR:Q6U736", "ENSEMBL:ENSP00000360255", "ENSEMBL:ENSP00000360255.2", "UMLS:C3491225", "MESH:C571119"], "information_content": 100.0}
{"id": "UniProtKB:Q96C11-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FGGY carbohydrate kinase domain-containing protein isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96C11-3", "PR:Q96C11-3", "ENSEMBL:ENSP00000360262", "ENSEMBL:ENSP00000360262.4"], "information_content": 100.0}
{"id": "NCBIGene:3725", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JUN", "equivalent_identifiers": ["NCBIGene:3725", "ENSEMBL:ENSG00000177606", "HGNC:6204", "OMIM:165160", "UMLS:C0162508", "UniProtKB:P05412", "PR:P05412", "ENSEMBL:ENSP00000360266", "ENSEMBL:ENSP00000360266.2", "ENSEMBL:ENSP00000503132", "ENSEMBL:ENSP00000503132.1", "UMLS:C3536909", "UMLS:C5197569", "MESH:C000632984"], "information_content": 86.3}
{"id": "UniProtKB:P54886-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "delta-1-pyrroline-5-carboxylate synthase isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P54886-1", "PR:P54886-1", "ENSEMBL:ENSP00000360268", "ENSEMBL:ENSP00000360268.2"], "information_content": 100.0}
{"id": "NCBIGene:4070", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TACSTD2", "equivalent_identifiers": ["NCBIGene:4070", "ENSEMBL:ENSG00000184292", "HGNC:11530", "OMIM:137290", "UMLS:C0920274", "UniProtKB:P09758", "PR:P09758", "ENSEMBL:ENSP00000360269", "ENSEMBL:ENSP00000360269.2", "UMLS:C0245557", "MESH:C499380"], "information_content": 92.8}
{"id": "UniProtKB:Q96E52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metalloendopeptidase OMA1, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96E52-1", "PR:Q96E52-1", "ENSEMBL:ENSP00000360270", "ENSEMBL:ENSP00000360270.3"], "information_content": 100.0}
{"id": "DOID:0060530", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "snail allergy", "equivalent_identifiers": ["DOID:0060530"]}
{"id": "UniProtKB:O75553-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disabled homolog 1 isoform DAB555 (human)", "equivalent_identifiers": ["UniProtKB:O75553-6", "PR:O75553-6", "ENSEMBL:ENSP00000360280", "ENSEMBL:ENSP00000360280.1", "ENSEMBL:ENSP00000387581", "ENSEMBL:ENSP00000387581.3"], "information_content": 100.0}
{"id": "NCBIGene:732", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C8B", "equivalent_identifiers": ["NCBIGene:732", "ENSEMBL:ENSG00000021852", "HGNC:1353", "OMIM:120960", "UMLS:C1413024", "UniProtKB:A0A8Q3WL56", "UniProtKB:B7Z550", "UniProtKB:B7Z555", "UniProtKB:P07358", "PR:P07358", "ENSEMBL:ENSP00000360281", "ENSEMBL:ENSP00000360281.4", "ENSEMBL:ENSP00000512454", "ENSEMBL:ENSP00000512454.1", "UMLS:C5552913"], "information_content": 95.4}
{"id": "NCBIGene:5563", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRKAA2", "equivalent_identifiers": ["NCBIGene:5563", "ENSEMBL:ENSG00000162409", "HGNC:9377", "OMIM:600497", "UMLS:C1418898", "UniProtKB:P54646", "PR:P54646", "ENSEMBL:ENSP00000360290", "ENSEMBL:ENSP00000360290.4", "UMLS:C2003410", "MESH:C526181"], "information_content": 89.4}
{"id": "UniProtKB:Q9BX66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorbin and SH3 domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BX66-1", "PR:Q9BX66-1", "ENSEMBL:ENSP00000355136", "ENSEMBL:ENSP00000355136.3", "ENSEMBL:ENSP00000360293", "ENSEMBL:ENSP00000360293.2"], "information_content": 100.0}
{"id": "NCBIGene:8613", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLPP3", "equivalent_identifiers": ["NCBIGene:8613", "ENSEMBL:ENSG00000162407", "HGNC:9229", "OMIM:607125", "UMLS:C1418774", "UniProtKB:O14495", "PR:O14495", "ENSEMBL:ENSP00000360296", "ENSEMBL:ENSP00000360296.3", "UMLS:C1959172", "UMLS:C3816452", "MESH:C521833"], "information_content": 100.0}
{"id": "UniProtKB:Q5T601-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G-protein coupled receptor F1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T601-1", "PR:Q5T601-1", "ENSEMBL:ENSP00000360299", "ENSEMBL:ENSP00000360299.2"], "information_content": 100.0}
{"id": "NCBIGene:9124", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDLIM1", "equivalent_identifiers": ["NCBIGene:9124", "ENSEMBL:ENSG00000107438", "HGNC:2067", "OMIM:605900", "UMLS:C1413488", "UniProtKB:O00151", "PR:O00151", "ENSEMBL:ENSP00000360305", "ENSEMBL:ENSP00000360305.3", "UniProtKB:V9HW92"], "information_content": 92.8}
{"id": "UniProtKB:Q9Y5K1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "meiotic recombination protein SPO11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5K1-1", "PR:Q9Y5K1-1", "ENSEMBL:ENSP00000360310", "ENSEMBL:ENSP00000360310.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15392-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Delta(24)-sterol reductase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15392-1", "PR:Q15392-1", "ENSEMBL:ENSP00000360316", "ENSEMBL:ENSP00000360316.3", "ENSEMBL:ENSP00000416585", "ENSEMBL:ENSP00000416585.2"], "information_content": 100.0}
{"id": "UniProtKB:P10632-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 2C8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P10632-1", "PR:P10632-1", "ENSEMBL:ENSP00000360317", "ENSEMBL:ENSP00000360317.3"], "information_content": 100.0}
{"id": "UniProtKB:Q3ZCV2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ciliary microtubule-associated protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3ZCV2-1", "PR:Q3ZCV2-1", "ENSEMBL:ENSP00000360320", "ENSEMBL:ENSP00000360320.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5TAA0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetratricopeptide repeat protein 22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TAA0-1", "PR:Q5TAA0-1", "ENSEMBL:ENSP00000360323", "ENSEMBL:ENSP00000360323.4"], "information_content": 100.0}
{"id": "NCBIGene:25973", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PARS2", "equivalent_identifiers": ["NCBIGene:25973", "ENSEMBL:ENSG00000162396", "HGNC:30563", "OMIM:612036", "UMLS:C1826544", "UniProtKB:Q7L3T8", "PR:Q7L3T8", "ENSEMBL:ENSP00000360327", "ENSEMBL:ENSP00000360327.3", "UMLS:C4547520", "MESH:C000625848"], "information_content": 89.4}
{"id": "NCBIGene:7268", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTC4", "equivalent_identifiers": ["NCBIGene:7268", "ENSEMBL:ENSG00000243725", "HGNC:12394", "OMIM:606753", "UMLS:C1421215", "UniProtKB:O95801", "PR:O95801", "ENSEMBL:ENSP00000360329", "ENSEMBL:ENSP00000360329.3", "UMLS:C1432005", "MESH:C417403"], "information_content": 100.0}
{"id": "NCBIGene:643311", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CT47B1", "equivalent_identifiers": ["NCBIGene:643311", "ENSEMBL:ENSG00000236446", "HGNC:33293", "OMIM:300790", "UMLS:C2681388", "UniProtKB:P0C2W7", "PR:P0C2W7", "ENSEMBL:ENSP00000360360", "ENSEMBL:ENSP00000360360.3", "ENSEMBL:ENSP00000500741", "ENSEMBL:ENSP00000500741.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULC4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "malignant T-cell-amplified sequence 1 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULC4-3", "PR:Q9ULC4-3", "ENSEMBL:ENSP00000360365", "ENSEMBL:ENSP00000360365.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXI4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-coenzyme A thioesterase 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXI4-1", "PR:Q8WXI4-1", "ENSEMBL:ENSP00000360366", "ENSEMBL:ENSP00000360366.3"], "information_content": 100.0}
{"id": "NCBIGene:1557", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP2C19", "equivalent_identifiers": ["NCBIGene:1557", "ENSEMBL:ENSG00000165841", "HGNC:2621", "OMIM:124020", "UMLS:C1332828", "UniProtKB:P33261", "PR:P33261", "ENSEMBL:ENSP00000360372", "ENSEMBL:ENSP00000360372.3", "UMLS:C0960580", "MESH:C045793"], "information_content": 100.0}
{"id": "NCBIGene:200232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM209A", "equivalent_identifiers": ["NCBIGene:200232", "ENSEMBL:ENSG00000124103", "HGNC:16100", "UMLS:C3470284", "UniProtKB:Q5JX71", "PR:Q5JX71", "ENSEMBL:ENSP00000360379", "ENSEMBL:ENSP00000360379.4"], "information_content": 100.0}
{"id": "UniProtKB:O95847-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial uncoupling protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95847-1", "PR:O95847-1", "ENSEMBL:ENSP00000360398", "ENSEMBL:ENSP00000360398.3"], "information_content": 100.0}
{"id": "NCBIGene:64318", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOC3L", "equivalent_identifiers": ["NCBIGene:64318", "ENSEMBL:ENSG00000173145", "HGNC:24034", "OMIM:610769", "UMLS:C1835848", "UniProtKB:Q8WTT2", "PR:Q8WTT2", "ENSEMBL:ENSP00000360412", "ENSEMBL:ENSP00000360412.3", "UMLS:C1571129", "MESH:C502216"], "information_content": 92.8}
{"id": "MONDO:0001615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "shipyard eye", "equivalent_identifiers": ["MONDO:0001615", "DOID:13014", "UMLS:C0014493", "MEDDRA:10014975", "NCIT:C34590", "SNOMEDCT:60548004", "medgen:4500", "icd11.foundation:972253332", "ICD10:B30.0", "ICD9:077.1"], "information_content": 100.0}
{"id": "UniProtKB:Q00975-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent N-type calcium channel subunit alpha-1B isoform hAlpha-1B-1 (human)", "equivalent_identifiers": ["UniProtKB:Q00975-1", "PR:Q00975-1", "ENSEMBL:ENSP00000360423", "ENSEMBL:ENSP00000360423.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14206-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcipressin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q14206-2", "PR:Q14206-2", "ENSEMBL:ENSP00000305223", "ENSEMBL:ENSP00000305223.7", "ENSEMBL:ENSP00000360425", "ENSEMBL:ENSP00000360425.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P212-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P212-1", "PR:Q9P212-1", "ENSEMBL:ENSP00000360431", "ENSEMBL:ENSP00000360431.2"], "information_content": 100.0}
{"id": "MONDO:0005714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital syphilis", "equivalent_identifiers": ["MONDO:0005714", "DOID:9856", "orphanet:499009", "EFO:0007219", "UMLS:C0039131", "MESH:D013590", "MEDDRA:10010641", "MEDDRA:10010642", "MEDDRA:10010655", "MEDDRA:10045710", "NCIT:C84649", "SNOMEDCT:35742006", "medgen:52622", "icd11.foundation:587996426", "ICD10:A50", "ICD9:090"], "information_content": 92.8}
{"id": "NCBIGene:59084", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ENPP5", "equivalent_identifiers": ["NCBIGene:59084", "ENSEMBL:ENSG00000112796", "HGNC:13717", "OMIM:617001", "UMLS:C1422160", "UniProtKB:B4DHN2", "UMLS:C4547079", "MESH:C000624927", "UniProtKB:Q9UJA9", "PR:Q9UJA9", "ENSEMBL:ENSP00000230565", "ENSEMBL:ENSP00000230565.3", "ENSEMBL:ENSP00000360436", "ENSEMBL:ENSP00000360436.1"], "information_content": 95.4}
{"id": "NCBIGene:84528", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHOXF2", "equivalent_identifiers": ["NCBIGene:84528", "ENSEMBL:ENSG00000131721", "HGNC:30011", "OMIM:300447", "UMLS:C1845514", "UniProtKB:Q9BQY4", "PR:Q9BQY4", "ENSEMBL:ENSP00000360441", "ENSEMBL:ENSP00000360441.3", "UMLS:C1174810", "MESH:C471968"], "information_content": 100.0}
{"id": "NCBIGene:727940", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHOXF2B", "equivalent_identifiers": ["NCBIGene:727940", "ENSEMBL:ENSG00000203989", "HGNC:33519", "UMLS:C2239885", "UniProtKB:P0C7M4", "PR:P0C7M4", "ENSEMBL:ENSP00000360455", "ENSEMBL:ENSP00000360455.3"], "information_content": 100.0}
{"id": "NCBIGene:79576", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKAP", "equivalent_identifiers": ["NCBIGene:79576", "ENSEMBL:ENSG00000101882", "HGNC:29873", "OMIM:300766", "UMLS:C2239784", "UniProtKB:Q8N5F7", "PR:Q8N5F7", "ENSEMBL:ENSP00000360464", "ENSEMBL:ENSP00000360464.3", "UMLS:C1313384", "MESH:C479077"], "information_content": 92.8}
{"id": "UniProtKB:O95970-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich glioma-inactivated protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95970-1", "PR:O95970-1", "ENSEMBL:ENSP00000360472", "ENSEMBL:ENSP00000360472.4"], "information_content": 100.0}
{"id": "NCBIGene:5203", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PFDN4", "equivalent_identifiers": ["NCBIGene:5203", "ENSEMBL:ENSG00000101132", "HGNC:8868", "OMIM:604898", "UMLS:C1418485", "UniProtKB:Q9NQP4", "PR:Q9NQP4", "ENSEMBL:ENSP00000360473", "ENSEMBL:ENSP00000360473.2", "ENSEMBL:ENSP00000520507", "ENSEMBL:ENSP00000520507.1", "UMLS:C1454519"], "information_content": 100.0}
{"id": "NCBIGene:92714", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARRDC1", "equivalent_identifiers": ["NCBIGene:92714", "ENSEMBL:ENSG00000197070", "HGNC:28633", "OMIM:619768", "UMLS:C1428725", "UniProtKB:Q8N5I2", "PR:Q8N5I2", "ENSEMBL:ENSP00000360475", "ENSEMBL:ENSP00000360475.4", "UMLS:C4743340", "MESH:C000629267"], "information_content": 100.0}
{"id": "UniProtKB:Q9BTX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoporin NDC1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTX1-1", "PR:Q9BTX1-1", "ENSEMBL:ENSP00000360483", "ENSEMBL:ENSP00000360483.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86UN6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-kinase anchor protein 14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UN6-1", "PR:Q86UN6-1", "ENSEMBL:ENSP00000360485", "ENSEMBL:ENSP00000360485.3"], "information_content": 100.0}
{"id": "UniProtKB:Q70Z53-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FRA10AC1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q70Z53-1", "PR:Q70Z53-1", "ENSEMBL:ENSP00000360488", "ENSEMBL:ENSP00000360488.3"], "information_content": 100.0}
{"id": "NCBIGene:4694", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFA1", "equivalent_identifiers": ["NCBIGene:4694", "ENSEMBL:ENSG00000125356", "HGNC:7683", "OMIM:300078", "UMLS:C1417620", "UniProtKB:O15239", "PR:O15239", "ENSEMBL:ENSP00000360492", "ENSEMBL:ENSP00000360492.4", "UMLS:C1431812", "MESH:C118736", "UniProtKB:Q6IBB5"], "information_content": 92.8}
{"id": "MONDO:0010771", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histiocytoid cardiomyopathy", "equivalent_identifiers": ["MONDO:0010771", "DOID:0080198", "OMIM:500000", "orphanet:137675", "UMLS:C1708371", "MESH:C535584", "NCIT:C45745", "medgen:310844", "icd11.foundation:1870618141", "HP:0005152"], "information_content": 95.4}
{"id": "UniProtKB:Q13950-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "runt-related transcription factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13950-1", "PR:Q13950-1", "ENSEMBL:ENSP00000360493", "ENSEMBL:ENSP00000360493.1", "ENSEMBL:ENSP00000495497", "ENSEMBL:ENSP00000495497.1"], "information_content": 86.3}
{"id": "NCBIGene:7737", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF113A", "equivalent_identifiers": ["NCBIGene:7737", "ENSEMBL:ENSG00000125352", "HGNC:12974", "OMIM:300951", "UMLS:C1538859", "UniProtKB:O15541", "PR:O15541", "ENSEMBL:ENSP00000360497", "ENSEMBL:ENSP00000360497.2", "UMLS:C1430871", "MESH:C107097"], "information_content": 92.8}
{"id": "NCBIGene:63948", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DMRTB1", "equivalent_identifiers": ["NCBIGene:63948", "ENSEMBL:ENSG00000143006", "HGNC:13913", "OMIM:614805", "UMLS:C1422266", "UniProtKB:I6L9A0", "UMLS:C5392032", "MESH:C000708942", "UniProtKB:Q96MA1", "PR:Q96MA1", "ENSEMBL:ENSP00000360500", "ENSEMBL:ENSP00000360500.3"], "information_content": 100.0}
{"id": "NCBIGene:5146", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDE6C", "equivalent_identifiers": ["NCBIGene:5146", "ENSEMBL:ENSG00000095464", "HGNC:8787", "OMIM:600827", "UMLS:C1418427", "UniProtKB:P51160", "PR:P51160", "ENSEMBL:ENSP00000360502", "ENSEMBL:ENSP00000360502.3", "UMLS:C0384146", "MESH:C096885"], "information_content": 92.8}
{"id": "UniProtKB:O75486-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription initiation protein SPT3 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75486-4", "PR:O75486-4", "ENSEMBL:ENSP00000360515", "ENSEMBL:ENSP00000360515.1"], "information_content": 100.0}
{"id": "NCBIGene:5950", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBP4", "equivalent_identifiers": ["NCBIGene:5950", "ENSEMBL:ENSG00000138207", "HGNC:9922", "OMIM:180250", "UMLS:C1419320", "UniProtKB:P02753", "PR:P02753", "ENSEMBL:ENSP00000360519", "ENSEMBL:ENSP00000360519.3", "ENSEMBL:ENSP00000360522", "ENSEMBL:ENSP00000360522.1", "UMLS:C1438309", "MESH:C101326", "UniProtKB:Q5VY30", "ENSEMBL:ENSP00000360524", "ENSEMBL:ENSP00000360524.2"], "information_content": 89.4}
{"id": "UniProtKB:P61326-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein mago nashi homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61326-1", "PR:P61326-1", "ENSEMBL:ENSP00000360525", "ENSEMBL:ENSP00000360525.3"], "information_content": 100.0}
{"id": "NCBIGene:7764", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF217", "equivalent_identifiers": ["NCBIGene:7764", "ENSEMBL:ENSG00000171940", "HGNC:13009", "OMIM:602967", "UMLS:C1421705", "UniProtKB:O75362", "PR:O75362", "ENSEMBL:ENSP00000304308", "ENSEMBL:ENSP00000304308.3", "ENSEMBL:ENSP00000360526", "ENSEMBL:ENSP00000360526.2", "UMLS:C1447657", "MESH:C113698"], "information_content": 87.2}
{"id": "UniProtKB:Q6X4W1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NMDA receptor synaptonuclear signaling and neuronal migration factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6X4W1-1", "PR:Q6X4W1-1", "ENSEMBL:ENSP00000360530", "ENSEMBL:ENSP00000360530.3"], "information_content": 100.0}
{"id": "NCBIGene:988", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC5L", "equivalent_identifiers": ["NCBIGene:988", "ENSEMBL:ENSG00000096401", "HGNC:1743", "OMIM:602868", "UMLS:C1413267", "UniProtKB:Q99459", "PR:Q99459", "ENSEMBL:ENSP00000360532", "ENSEMBL:ENSP00000360532.3", "UMLS:C1702821", "MESH:C508357"], "information_content": 89.4}
{"id": "UniProtKB:Q5NUL3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "free fatty acid receptor 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5NUL3-1", "PR:Q5NUL3-1", "ENSEMBL:ENSP00000360538", "ENSEMBL:ENSP00000360538.4"], "information_content": 100.0}
{"id": "UniProtKB:Q53EZ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 55 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53EZ4-1", "PR:Q53EZ4-1", "ENSEMBL:ENSP00000360540", "ENSEMBL:ENSP00000360540.3"], "information_content": 100.0}
{"id": "MONDO:0009359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome", "equivalent_identifiers": ["MONDO:0009359", "DOID:0080327", "OMIM:236500", "orphanet:500135", "UMLS:C1856053", "MESH:C565507", "SNOMEDCT:1169358003", "medgen:343465"], "information_content": 100.0}
{"id": "NCBIGene:1376", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPT2", "equivalent_identifiers": ["NCBIGene:1376", "ENSEMBL:ENSG00000157184", "HGNC:2330", "OMIM:600650", "UMLS:C1413690", "UniProtKB:A0A140VK13", "UniProtKB:A0A1B0GTB8", "ENSEMBL:ENSP00000489631", "ENSEMBL:ENSP00000489631.1", "UniProtKB:P23786", "PR:P23786", "ENSEMBL:ENSP00000360541", "ENSEMBL:ENSP00000360541.3", "UMLS:C5848958"], "information_content": 92.8}
{"id": "UniProtKB:Q9NRE2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "teashirt homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRE2-1", "PR:Q9NRE2-1", "ENSEMBL:ENSP00000360552", "ENSEMBL:ENSP00000360552.3"], "information_content": 100.0}
{"id": "NCBIGene:202500", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRC5", "equivalent_identifiers": ["NCBIGene:202500", "ENSEMBL:ENSG00000146221", "HGNC:11693", "OMIM:186975", "UMLS:C1420661", "UniProtKB:Q5JU00", "PR:Q5JU00", "ENSEMBL:ENSP00000360560", "ENSEMBL:ENSP00000360560.4"], "information_content": 100.0}
{"id": "MONDO:0000550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "extra-adrenal sympathetic paraganglioma", "equivalent_identifiers": ["MONDO:0000550", "DOID:0050936", "EFO:0000489", "UMLS:C1257877", "NCIT:C48576", "medgen:263453", "HP:0006737"], "information_content": 84.8}
{"id": "UniProtKB:Q5MY95-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ectonucleoside triphosphate diphosphohydrolase 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5MY95-1", "PR:Q5MY95-1", "ENSEMBL:ENSP00000360561", "ENSEMBL:ENSP00000360561.2"], "information_content": 100.0}
{"id": "UniProtKB:P22307-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sterol carrier protein 2 isoform SCPx (human)", "equivalent_identifiers": ["UniProtKB:P22307-1", "PR:P22307-1", "ENSEMBL:ENSP00000360569", "ENSEMBL:ENSP00000360569.3"], "information_content": 100.0}
{"id": "MONDO:0000807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "latex allergy", "equivalent_identifiers": ["MONDO:0000807", "DOID:0060532", "UMLS:C0577628", "MESH:D020315", "MEDDRA:10056435", "SNOMEDCT:1003755004", "SNOMEDCT:300916003", "medgen:107909", "HP:0500094"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHB4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADPH-dependent diflavin oxidoreductase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHB4-2", "PR:Q9UHB4-2", "ENSEMBL:ENSP00000360576", "ENSEMBL:ENSP00000360576.4"], "information_content": 100.0}
{"id": "UniProtKB:Q86YB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YB7-1", "PR:Q86YB7-1", "ENSEMBL:ENSP00000360577", "ENSEMBL:ENSP00000360577.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6WRX3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein zyg-11 homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6WRX3-1", "PR:Q6WRX3-1", "ENSEMBL:ENSP00000360583", "ENSEMBL:ENSP00000360583.1"], "information_content": 100.0}
{"id": "NCBIGene:65260", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COA7", "equivalent_identifiers": ["NCBIGene:65260", "ENSEMBL:ENSG00000162377", "HGNC:25716", "OMIM:615623", "UMLS:C1823779", "UniProtKB:Q96BR5", "PR:Q96BR5", "ENSEMBL:ENSP00000360593", "ENSEMBL:ENSP00000360593.3", "UMLS:C3849936", "MESH:C000588697"], "information_content": 88.2}
{"id": "DOID:0060523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mollusc allergy", "equivalent_identifiers": ["DOID:0060523"]}
{"id": "UniProtKB:Q2I0M4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 26 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2I0M4-1", "PR:Q2I0M4-1", "ENSEMBL:ENSP00000360597", "ENSEMBL:ENSP00000360597.3"], "information_content": 100.0}
{"id": "MONDO:0012276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized epilepsy-paroxysmal dyskinesia syndrome", "equivalent_identifiers": ["MONDO:0012276", "DOID:0070442", "OMIM:609446", "orphanet:79137", "UMLS:C1836173", "UMLS:C5574945", "MESH:C563719", "SNOMEDCT:715629001", "medgen:1801137"], "information_content": 100.0}
{"id": "UniProtKB:Q05586-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor ionotropic, NMDA 1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q05586-6", "PR:Q05586-6", "ENSEMBL:ENSP00000360608", "ENSEMBL:ENSP00000360608.3"], "information_content": 100.0}
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{"id": "UniProtKB:Q96K17-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor BTF3 homolog 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96K17-1", "PR:Q96K17-1", "ENSEMBL:ENSP00000360664", "ENSEMBL:ENSP00000360664.4"], "information_content": 100.0}
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{"id": "UniProtKB:Q9BYG5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "partitioning defective 6 homolog beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYG5-1", "PR:Q9BYG5-1", "ENSEMBL:ENSP00000360672", "ENSEMBL:ENSP00000360672.2"], "information_content": 100.0}
{"id": "NCBIGene:112970", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KTI12", "equivalent_identifiers": ["NCBIGene:112970", "ENSEMBL:ENSG00000198841", "HGNC:25160", "UMLS:C1825782", "UniProtKB:Q96EK9", "PR:Q96EK9", "ENSEMBL:ENSP00000360676", "ENSEMBL:ENSP00000360676.1"], "information_content": 100.0}
{"id": "MONDO:0009843", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomyelinating leukodystrophy 3", "equivalent_identifiers": ["MONDO:0009843", "DOID:0060790", "OMIM:260600", "orphanet:280293", "UMLS:C1850053", "MESH:C536319", "medgen:342403"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUH6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein PAXX isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUH6-1", "PR:Q9BUH6-1", "ENSEMBL:ENSP00000360682", "ENSEMBL:ENSP00000360682.3"], "information_content": 100.0}
{"id": "NCBIGene:5770", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTPN1", "equivalent_identifiers": ["NCBIGene:5770", "ENSEMBL:ENSG00000196396", "HGNC:9642", "OMIM:176885", "UMLS:C1335281", "UniProtKB:A8K3M3", "UniProtKB:B4DSN5", "ENSEMBL:ENSP00000437732", "ENSEMBL:ENSP00000437732.1", "UniProtKB:P18031", "PR:P18031", "ENSEMBL:ENSP00000360683", "ENSEMBL:ENSP00000360683.3", "UMLS:C1335056", "MESH:C516607"], "information_content": 83.1}
{"id": "NCBIGene:5730", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTGDS", "equivalent_identifiers": ["NCBIGene:5730", "ENSEMBL:ENSG00000107317", "HGNC:9592", "OMIM:176803", "UMLS:C1419060", "UniProtKB:A0A024R8G3", "UMLS:C5226390", "MESH:C000656466", "UniProtKB:P41222", "PR:P41222", "ENSEMBL:ENSP00000360687", "ENSEMBL:ENSP00000360687.3", "UMLS:C5441761"], "information_content": 77.3}
{"id": "NCBIGene:51060", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TXNDC12", "equivalent_identifiers": ["NCBIGene:51060", "ENSEMBL:ENSG00000117862", "HGNC:24626", "OMIM:609448", "UMLS:C1836171", "UniProtKB:O95881", "PR:O95881", "ENSEMBL:ENSP00000360688", "ENSEMBL:ENSP00000360688.4", "ENSEMBL:ENSP00000520430", "ENSEMBL:ENSP00000520430.1", "UMLS:C1311379", "MESH:C477009"], "information_content": 92.8}
{"id": "MONDO:0014977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2R1", "equivalent_identifiers": ["MONDO:0014977", "DOID:0080762", "OMIM:617232", "orphanet:480682", "UMLS:C4310660", "NCIT:C142082", "SNOMEDCT:1172703004", "medgen:934627"], "information_content": 100.0}
{"id": "NCBIGene:80351", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNKS2", "equivalent_identifiers": ["NCBIGene:80351", "ENSEMBL:ENSG00000107854", "HGNC:15677", "OMIM:607128", "UMLS:C1423650", "UniProtKB:Q9H2K2", "PR:Q9H2K2", "ENSEMBL:ENSP00000360689", "ENSEMBL:ENSP00000360689.4", "UMLS:C1448153", "MESH:C437334"], "information_content": 92.8}
{"id": "UniProtKB:Q496Y0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LON peptidase N-terminal domain and RING finger protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q496Y0-1", "PR:Q496Y0-1", "ENSEMBL:ENSP00000360690", "ENSEMBL:ENSP00000360690.3"], "information_content": 100.0}
{"id": "NCBIGene:286256", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCN12", "equivalent_identifiers": ["NCBIGene:286256", "ENSEMBL:ENSG00000184925", "HGNC:28733", "OMIM:612905", "UMLS:C1537555", "UniProtKB:A0A384MDV4", "UniProtKB:Q6JVE5", "PR:Q6JVE5", "ENSEMBL:ENSP00000360696", "ENSEMBL:ENSP00000360696.3", "UniProtKB:Q8IW14"], "information_content": 95.4}
{"id": "NCBIGene:733", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C8G", "equivalent_identifiers": ["NCBIGene:733", "ENSEMBL:ENSG00000176919", "HGNC:1354", "OMIM:120930", "UMLS:C1413025", "UniProtKB:P07360", "PR:P07360", "ENSEMBL:ENSP00000360697", "ENSEMBL:ENSP00000360697.3", "UMLS:C1430012", "MESH:C087169"], "information_content": 92.8}
{"id": "UniProtKB:A5PLL7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plasmanylethanolamine desaturase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A5PLL7-1", "PR:A5PLL7-1", "ENSEMBL:ENSP00000360715", "ENSEMBL:ENSP00000360715.4"], "information_content": 100.0}
{"id": "MONDO:0000775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "drug allergy", "equivalent_identifiers": ["MONDO:0000775", "DOID:0060500", "EFO:0009482", "UMLS:C0013182", "UMLS:C5139486", "MESH:D004342", "MEDDRA:10013661", "MEDDRA:10013700", "MEDDRA:10082135", "SNOMEDCT:416093006", "SNOMEDCT:416098002", "medgen:41663", "HP:0410323"], "information_content": 100.0}
{"id": "MONDO:0004514", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic rhinitis", "equivalent_identifiers": ["MONDO:0004514", "DOID:8252", "UMLS:C0008711", "MEDDRA:10009129", "NCIT:C34479", "SNOMEDCT:86094006", "medgen:3086", "icd11.foundation:1346915097", "ICD10:J31.0", "ICD9:472.0", "HP:0002257"], "information_content": 90.9}
{"id": "NCBIGene:5865", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB3B", "equivalent_identifiers": ["NCBIGene:5865", "ENSEMBL:ENSG00000169213", "HGNC:9778", "OMIM:179510", "UMLS:C1419207", "UniProtKB:P20337", "PR:P20337", "ENSEMBL:ENSP00000360718", "ENSEMBL:ENSP00000360718.3", "UMLS:C1453014", "MESH:C492131"], "information_content": 92.8}
{"id": "UniProtKB:Q3YEC7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab-like protein 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q3YEC7-2", "PR:Q3YEC7-2", "ENSEMBL:ENSP00000360727", "ENSEMBL:ENSP00000360727.6"], "information_content": 100.0}
{"id": "UniProtKB:P78552-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-13 receptor subunit alpha-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78552-1", "PR:P78552-1", "ENSEMBL:ENSP00000360730", "ENSEMBL:ENSP00000360730.3"], "information_content": 100.0}
{"id": "UniProtKB:O15120-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15120-1", "PR:O15120-1", "ENSEMBL:ENSP00000360761", "ENSEMBL:ENSP00000360761.2"], "information_content": 100.0}
{"id": "NCBIGene:27063", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD1", "equivalent_identifiers": ["NCBIGene:27063", "ENSEMBL:ENSG00000148677", "HGNC:15819", "OMIM:609599", "UMLS:C1423753", "UniProtKB:A0A384NYH5", "UMLS:C1454400", "MESH:C491304", "UniProtKB:Q15327", "PR:Q15327", "ENSEMBL:ENSP00000360762", "ENSEMBL:ENSP00000360762.3"], "information_content": 95.4}
{"id": "NCBIGene:51162", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EGFL7", "equivalent_identifiers": ["NCBIGene:51162", "ENSEMBL:ENSG00000172889", "HGNC:20594", "OMIM:608582", "UMLS:C1427021", "UniProtKB:Q9UHF1", "PR:Q9UHF1", "ENSEMBL:ENSP00000307843", "ENSEMBL:ENSP00000307843.7", "ENSEMBL:ENSP00000360763", "ENSEMBL:ENSP00000360763.3", "ENSEMBL:ENSP00000360764", "ENSEMBL:ENSP00000360764.1", "ENSEMBL:ENSP00000385639", "ENSEMBL:ENSP00000385639.3", "UMLS:C2352717", "UMLS:C5444105", "MESH:C527877"], "information_content": 92.8}
{"id": "NCBIGene:9334", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B4GALT5", "equivalent_identifiers": ["NCBIGene:9334", "ENSEMBL:ENSG00000158470", "HGNC:928", "OMIM:604016", "UMLS:C1412723", "UniProtKB:O43286", "PR:O43286", "ENSEMBL:ENSP00000360776", "ENSEMBL:ENSP00000360776.4", "UMLS:C5441867", "MESH:C000717927"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRR6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRR6-1", "PR:Q9NRR6-1", "ENSEMBL:ENSP00000360777", "ENSEMBL:ENSP00000360777.3"], "information_content": 100.0}
{"id": "UniProtKB:Q10713-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial-processing peptidase subunit alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q10713-1", "PR:Q10713-1", "ENSEMBL:ENSP00000360782", "ENSEMBL:ENSP00000360782.3", "ENSEMBL:ENSP00000516285", "ENSEMBL:ENSP00000516285.1", "ENSEMBL:ENSP00000516286", "ENSEMBL:ENSP00000516286.1", "ENSEMBL:ENSP00000516357", "ENSEMBL:ENSP00000516357.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96Q89-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF20B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q89-1", "PR:Q96Q89-1", "ENSEMBL:ENSP00000360793", "ENSEMBL:ENSP00000360793.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H257-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase recruitment domain-containing protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H257-1", "PR:Q9H257-1", "ENSEMBL:ENSP00000360797", "ENSEMBL:ENSP00000360797.5"], "information_content": 100.0}
{"id": "UniProtKB:P42566-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epidermal growth factor receptor substrate 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P42566-1", "PR:P42566-1", "ENSEMBL:ENSP00000360798", "ENSEMBL:ENSP00000360798.3"], "information_content": 100.0}
{"id": "NCBIGene:728489", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNLZ", "equivalent_identifiers": ["NCBIGene:728489", "ENSEMBL:ENSG00000213221", "HGNC:33879", "OMIM:620797", "UMLS:C2239359", "UniProtKB:Q5SXM8", "PR:Q5SXM8", "ENSEMBL:ENSP00000360803", "ENSEMBL:ENSP00000360803.3", "UMLS:C3177902", "MESH:C559905"], "information_content": 95.4}
{"id": "NCBIGene:3745", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNB1", "equivalent_identifiers": ["NCBIGene:3745", "ENSEMBL:ENSG00000158445", "HGNC:6231", "OMIM:600397", "UMLS:C1416554", "UniProtKB:Q14721", "PR:Q14721", "ENSEMBL:ENSP00000360806", "ENSEMBL:ENSP00000360806.3", "ENSEMBL:ENSP00000489193", "ENSEMBL:ENSP00000489193.1", "UMLS:C1571474", "MESH:C496988"], "information_content": 95.4}
{"id": "UniProtKB:Q9UBR4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM/homeobox protein Lhx3 isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q9UBR4-2", "PR:Q9UBR4-2", "ENSEMBL:ENSP00000360811", "ENSEMBL:ENSP00000360811.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2E3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NFX1-type zinc finger-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2E3-1", "PR:Q9P2E3-1", "ENSEMBL:ENSP00000360817", "ENSEMBL:ENSP00000360817.1", "ENSEMBL:ENSP00000379412", "ENSEMBL:ENSP00000379412.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSL1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000360821", "equivalent_identifiers": ["UniProtKB:Q9BSL1-1", "ENSEMBL:ENSP00000360821", "ENSEMBL:ENSP00000360821.3"]}
{"id": "DOID:0040038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "meropenem allergy", "equivalent_identifiers": ["DOID:0040038"]}
{"id": "UniProtKB:Q5JUK3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium channel subfamily T member 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5JUK3-3", "PR:Q5JUK3-3", "ENSEMBL:ENSP00000360822", "ENSEMBL:ENSP00000360822.2"], "information_content": 100.0}
{"id": "NCBIGene:284546", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1orf185", "equivalent_identifiers": ["NCBIGene:284546", "ENSEMBL:ENSG00000204006", "HGNC:28096", "OMIM:621135", "UMLS:C1823799", "UniProtKB:A0A3B3ISR6", "ENSEMBL:ENSP00000497349", "ENSEMBL:ENSP00000497349.1", "UniProtKB:Q5T7R7", "PR:Q5T7R7", "ENSEMBL:ENSP00000360824", "ENSEMBL:ENSP00000360824.2"], "information_content": 100.0}
{"id": "MONDO:0013338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease recessive intermediate B", "equivalent_identifiers": ["MONDO:0013338", "DOID:0110204", "OMIM:613641", "orphanet:254334", "UMLS:C3150897", "medgen:462247"], "information_content": 100.0}
{"id": "MONDO:0014776", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 42", "equivalent_identifiers": ["MONDO:0014776", "DOID:0111742", "OMIM:616795", "orphanet:458803", "EFO:0009059", "UMLS:C4225205", "NCIT:C171269", "SNOMEDCT:1208513005", "medgen:902592"], "information_content": 95.4}
{"id": "NCBIGene:360203", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLT6D1", "equivalent_identifiers": ["NCBIGene:360203", "ENSEMBL:ENSG00000204007", "HGNC:23671", "OMIM:613699", "UMLS:C1539575", "UniProtKB:Q7Z4J2", "PR:Q7Z4J2", "ENSEMBL:ENSP00000360829", "ENSEMBL:ENSP00000360829.1"], "information_content": 100.0}
{"id": "NCBIGene:51116", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPS2", "equivalent_identifiers": ["NCBIGene:51116", "ENSEMBL:ENSG00000122140", "HGNC:14495", "OMIM:611971", "UMLS:C1422701", "UniProtKB:Q9Y399", "PR:Q9Y399", "ENSEMBL:ENSP00000241600", "ENSEMBL:ENSP00000241600.5", "ENSEMBL:ENSP00000360850", "ENSEMBL:ENSP00000360850.1", "UMLS:C4743360", "MESH:C000629334"], "information_content": 100.0}
{"id": "NCBIGene:387700", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC16A12", "equivalent_identifiers": ["NCBIGene:387700", "ENSEMBL:ENSG00000152779", "HGNC:23094", "OMIM:611910", "UMLS:C1427911", "UniProtKB:Q6ZSM3", "PR:Q6ZSM3", "ENSEMBL:ENSP00000360855", "ENSEMBL:ENSP00000360855.4", "UMLS:C2352366", "MESH:C527548"], "information_content": 100.0}
{"id": "UniProtKB:Q99784-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "noelin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99784-1", "PR:Q99784-1", "ENSEMBL:ENSP00000360858", "ENSEMBL:ENSP00000360858.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13325-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon-induced protein with tetratricopeptide repeats 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13325-1", "PR:Q13325-1", "ENSEMBL:ENSP00000360860", "ENSEMBL:ENSP00000360860.4"], "information_content": 100.0}
{"id": "UniProtKB:P09914-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon-induced protein with tetratricopeptide repeats 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P09914-1", "PR:P09914-1", "ENSEMBL:ENSP00000360869", "ENSEMBL:ENSP00000360869.3"], "information_content": 100.0}
{"id": "NCBIGene:2219", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FCN1", "equivalent_identifiers": ["NCBIGene:2219", "ENSEMBL:ENSG00000085265", "HGNC:3623", "OMIM:601252", "UMLS:C1414559", "UniProtKB:O00602", "PR:O00602", "ENSEMBL:ENSP00000360871", "ENSEMBL:ENSP00000360871.3", "UMLS:C1448181", "MESH:C000727819"], "information_content": 95.4}
{"id": "NCBIGene:439996", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFIT1B", "equivalent_identifiers": ["NCBIGene:439996", "ENSEMBL:ENSG00000204010", "HGNC:23442", "UMLS:C1537400", "UniProtKB:Q5T764", "PR:Q5T764", "ENSEMBL:ENSP00000360874", "ENSEMBL:ENSP00000360874.3"], "information_content": 100.0}
{"id": "NCBIGene:3437", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFIT3", "equivalent_identifiers": ["NCBIGene:3437", "ENSEMBL:ENSG00000119917", "HGNC:5411", "OMIM:604650", "UMLS:C1415895", "UniProtKB:A0A7P0T7D6", "ENSEMBL:ENSP00000504860", "ENSEMBL:ENSP00000504860.1", "ENSEMBL:ENSP00000505300", "ENSEMBL:ENSP00000505300.1", "ENSEMBL:ENSP00000505695", "ENSEMBL:ENSP00000505695.1", "ENSEMBL:ENSP00000506309", "ENSEMBL:ENSP00000506309.1", "ENSEMBL:ENSP00000506550", "ENSEMBL:ENSP00000506550.1", "ENSEMBL:ENSP00000506557", "ENSEMBL:ENSP00000506557.1", "ENSEMBL:ENSP00000506643", "ENSEMBL:ENSP00000506643.1", "UniProtKB:O14879", "PR:O14879", "ENSEMBL:ENSP00000360876", "ENSEMBL:ENSP00000360876.4", "ENSEMBL:ENSP00000360883", "ENSEMBL:ENSP00000360883.4", "ENSEMBL:ENSP00000505987", "ENSEMBL:ENSP00000505987.1", "UMLS:C1308866", "MESH:C116468", "UniProtKB:Q5T765"], "information_content": 87.2}
{"id": "UniProtKB:P20908-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(V) chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P20908-1", "PR:P20908-1", "ENSEMBL:ENSP00000360882", "ENSEMBL:ENSP00000360882.3"], "information_content": 100.0}
{"id": "UniProtKB:Q7L4P6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BEN domain-containing protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L4P6-1", "PR:Q7L4P6-1", "ENSEMBL:ENSP00000360899", "ENSEMBL:ENSP00000360899.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5VU57-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic carboxypeptidase 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VU57-1", "PR:Q5VU57-1", "ENSEMBL:ENSP00000360905", "ENSEMBL:ENSP00000360905.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWH7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis-associated protein 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWH7-1", "PR:Q9NWH7-1", "ENSEMBL:ENSP00000360913", "ENSEMBL:ENSP00000360913.3"], "information_content": 100.0}
{"id": "UniProtKB:P52735-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide exchange factor VAV2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P52735-1", "PR:P52735-1", "ENSEMBL:ENSP00000360916", "ENSEMBL:ENSP00000360916.3"], "information_content": 100.0}
{"id": "NCBIGene:9023", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CH25H", "equivalent_identifiers": ["NCBIGene:9023", "ENSEMBL:ENSG00000138135", "HGNC:1907", "OMIM:604551", "UMLS:C1413371", "UniProtKB:O95992", "PR:O95992", "ENSEMBL:ENSP00000360918", "ENSEMBL:ENSP00000360918.2", "UMLS:C5441991"], "information_content": 100.0}
{"id": "UniProtKB:O95793-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "double-stranded RNA-binding protein Staufen homolog 1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O95793-1", "PR:O95793-1", "ENSEMBL:ENSP00000360922", "ENSEMBL:ENSP00000360922.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UL12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sarcosine dehydrogenase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UL12-1", "PR:Q9UL12-1", "ENSEMBL:ENSP00000360938", "ENSEMBL:ENSP00000360938.4", "ENSEMBL:ENSP00000403084", "ENSEMBL:ENSP00000403084.1"], "information_content": 100.0}
{"id": "UniProtKB:P30085-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UMP-CMP kinase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P30085-3", "PR:P30085-3", "ENSEMBL:ENSP00000360939", "ENSEMBL:ENSP00000360939.5"], "information_content": 100.0}
{"id": "MONDO:0009725", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 2", "equivalent_identifiers": ["MONDO:0009725", "DOID:0110928", "OMIM:256030", "UMLS:C1850569", "MESH:C538349", "NCIT:C118784", "medgen:342534"], "information_content": 100.0}
{"id": "MONDO:0024473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Astrakhan spotted fever", "equivalent_identifiers": ["MONDO:0024473", "DOID:0050041", "UMLS:C5574872", "medgen:1814171"], "information_content": 100.0}
{"id": "UniProtKB:Q15468-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SCL-interrupting locus protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15468-2", "PR:Q15468-2", "ENSEMBL:ENSP00000360944", "ENSEMBL:ENSP00000360944.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5TCH4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 4A22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TCH4-1", "PR:Q5TCH4-1", "ENSEMBL:ENSP00000360958", "ENSEMBL:ENSP00000360958.3"], "information_content": 100.0}
{"id": "NCBIGene:203413", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CT83", "equivalent_identifiers": ["NCBIGene:203413", "ENSEMBL:ENSG00000204019", "HGNC:33494", "OMIM:300625", "UMLS:C1845087", "UniProtKB:Q5H943", "PR:Q5H943", "ENSEMBL:ENSP00000360961", "ENSEMBL:ENSP00000360961.4", "UMLS:C4041680", "MESH:C000600054"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGQ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 2, facilitated glucose transporter member 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGQ3-1", "PR:Q9UGQ3-1", "ENSEMBL:ENSP00000360966", "ENSEMBL:ENSP00000360966.4", "ENSEMBL:ENSP00000487067", "ENSEMBL:ENSP00000487067.1"], "information_content": 100.0}
{"id": "NCBIGene:186", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGTR2", "equivalent_identifiers": ["NCBIGene:186", "ENSEMBL:ENSG00000180772", "HGNC:338", "OMIM:300034", "UMLS:C1332036", "UniProtKB:P50052", "PR:P50052", "ENSEMBL:ENSP00000360973", "ENSEMBL:ENSP00000360973.4", "ENSEMBL:ENSP00000505750", "ENSEMBL:ENSP00000505750.1", "UMLS:C5226670", "MESH:C000654624"], "information_content": 95.4}
{"id": "MONDO:0012644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asphyxiating thoracic dystrophy 2", "equivalent_identifiers": ["MONDO:0012644", "DOID:0110086", "OMIM:611263", "UMLS:C1970005", "MESH:C566982", "medgen:370804"], "information_content": 100.0}
{"id": "NCBIGene:10564", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARFGEF2", "equivalent_identifiers": ["NCBIGene:10564", "ENSEMBL:ENSG00000124198", "HGNC:15853", "OMIM:605371", "UMLS:C1423775", "UniProtKB:A0A7P0T7Z2", "ENSEMBL:ENSP00000504888", "ENSEMBL:ENSP00000504888.1", "UniProtKB:Q59FR3", "UMLS:C1431855", "MESH:C119088", "UniProtKB:Q86TH5", "UniProtKB:Q9Y6D5", "PR:Q9Y6D5", "ENSEMBL:ENSP00000360985", "ENSEMBL:ENSP00000360985.4"], "information_content": 90.9}
{"id": "UniProtKB:Q9P127-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine zipper protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P127-1", "PR:Q9P127-1", "ENSEMBL:ENSP00000360988", "ENSEMBL:ENSP00000360988.3"], "information_content": 100.0}
{"id": "MONDO:0011716", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute hemorrhagic leukoencephalitis", "equivalent_identifiers": ["MONDO:0011716", "DOID:10992", "OMIM:606752", "EFO:0007132", "UMLS:C0014077", "MESH:D004684", "MEDDRA:10058993", "MEDDRA:10058994", "NCIT:C84535", "SNOMEDCT:72986009", "medgen:4937"], "information_content": 100.0}
{"id": "UniProtKB:P13584-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 4B1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P13584-2", "PR:P13584-2", "ENSEMBL:ENSP00000360991", "ENSEMBL:ENSP00000360991.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96FJ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AMSH-like protease isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FJ0-1", "PR:Q96FJ0-1", "ENSEMBL:ENSP00000360992", "ENSEMBL:ENSP00000360992.1", "ENSEMBL:ENSP00000360994", "ENSEMBL:ENSP00000360994.3"], "information_content": 100.0}
{"id": "UniProtKB:Q76LX8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "a disintegrin and metalloproteinase with thrombospondin motifs 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q76LX8-1", "PR:Q76LX8-1", "ENSEMBL:ENSP00000360997", "ENSEMBL:ENSP00000360997.3", "ENSEMBL:ENSP00000486201", "ENSEMBL:ENSP00000486201.1"], "information_content": 100.0}
{"id": "MONDO:0001284", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endometriosis of intestine", "equivalent_identifiers": ["MONDO:0001284", "DOID:11428", "UMLS:C0156347", "MEDDRA:10014782", "SNOMEDCT:5562006", "medgen:510251", "icd11.foundation:706777963", "ICD10:N80.5", "ICD9:617.5"], "information_content": 100.0}
{"id": "NCBIGene:118932", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD22", "equivalent_identifiers": ["NCBIGene:118932", "ENSEMBL:ENSG00000152766", "HGNC:28321", "UMLS:C1538284", "UniProtKB:Q5VYY1", "PR:Q5VYY1", "ENSEMBL:ENSP00000360998", "ENSEMBL:ENSP00000360998.4", "UMLS:C5564868", "MESH:C000720788"], "information_content": 95.4}
{"id": "NCBIGene:3598", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL13RA2", "equivalent_identifiers": ["NCBIGene:3598", "ENSEMBL:ENSG00000123496", "HGNC:5975", "OMIM:300130", "UMLS:C1416386", "UniProtKB:Q14627", "PR:Q14627", "ENSEMBL:ENSP00000243213", "ENSEMBL:ENSP00000243213.1", "ENSEMBL:ENSP00000361004", "ENSEMBL:ENSP00000361004.1", "UMLS:C5196800", "MESH:C000630138"], "information_content": 95.4}
{"id": "NCBIGene:142910", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIPJ", "equivalent_identifiers": ["NCBIGene:142910", "ENSEMBL:ENSG00000204022", "HGNC:21773", "OMIM:613921", "UMLS:C1537576", "UniProtKB:Q5W064", "PR:Q5W064", "ENSEMBL:ENSP00000361007", "ENSEMBL:ENSP00000361007.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCU6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCU6-1", "PR:Q8TCU6-1", "ENSEMBL:ENSP00000361009", "ENSEMBL:ENSP00000361009.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZR2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA exonuclease 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZR2-1", "PR:Q9GZR2-1", "ENSEMBL:ENSP00000361010", "ENSEMBL:ENSP00000361010.3", "ENSEMBL:ENSP00000486065", "ENSEMBL:ENSP00000486065.1"], "information_content": 100.0}
{"id": "UniProtKB:P60484-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P60484-1", "PR:P60484-1", "ENSEMBL:ENSP00000361021", "ENSEMBL:ENSP00000361021.3", "ENSEMBL:ENSP00000494918", "ENSEMBL:ENSP00000494918.2", "ENSEMBL:ENSP00000508752", "ENSEMBL:ENSP00000508752.1", "ENSEMBL:ENSP00000518242", "ENSEMBL:ENSP00000518242.1"], "information_content": 92.8}
{"id": "UniProtKB:Q8NE28-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine kinase-like domain-containing protein STKLD1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NE28-1", "PR:Q8NE28-1", "ENSEMBL:ENSP00000361025", "ENSEMBL:ENSP00000361025.3", "ENSEMBL:ENSP00000486786", "ENSEMBL:ENSP00000486786.1"], "information_content": 100.0}
{"id": "UniProtKB:Q4VCS5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "angiomotin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4VCS5-1", "PR:Q4VCS5-1", "ENSEMBL:ENSP00000361027", "ENSEMBL:ENSP00000361027.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86WI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LHFPL tetraspan subfamily member 1 protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WI0-1", "PR:Q86WI0-1", "ENSEMBL:ENSP00000361036", "ENSEMBL:ENSP00000361036.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15526-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "surfeit locus protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15526-1", "PR:Q15526-1", "ENSEMBL:ENSP00000361042", "ENSEMBL:ENSP00000361042.3", "ENSEMBL:ENSP00000487158", "ENSEMBL:ENSP00000487158.1"], "information_content": 100.0}
{"id": "NCBIGene:8438", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAD54L", "equivalent_identifiers": ["NCBIGene:8438", "ENSEMBL:ENSG00000085999", "HGNC:9826", "OMIM:603615", "UMLS:C1419244", "UniProtKB:A8K996", "UniProtKB:Q92698", "PR:Q92698", "ENSEMBL:ENSP00000361043", "ENSEMBL:ENSP00000361043.4", "ENSEMBL:ENSP00000396113", "ENSEMBL:ENSP00000396113.1", "ENSEMBL:ENSP00000499652", "ENSEMBL:ENSP00000499652.1", "UMLS:C0534064", "MESH:C103532"], "information_content": 90.9}
{"id": "UniProtKB:O15260-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "surfeit locus protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15260-1", "PR:O15260-1", "ENSEMBL:ENSP00000361057", "ENSEMBL:ENSP00000361057.3", "ENSEMBL:ENSP00000486049", "ENSEMBL:ENSP00000486049.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WZA1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WZA1-2", "PR:Q8WZA1-2", "ENSEMBL:ENSP00000361060", "ENSEMBL:ENSP00000361060.1"], "information_content": 100.0}
{"id": "DOID:0070272", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary nonpolyposis colorectal cancer type 5", "equivalent_identifiers": ["DOID:0070272"]}
{"id": "UniProtKB:Q9UNW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multiple inositol polyphosphate phosphatase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNW1-1", "PR:Q9UNW1-1", "ENSEMBL:ENSP00000361064", "ENSEMBL:ENSP00000361064.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6Q9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor coactivator 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6Q9-1", "PR:Q9Y6Q9-1", "ENSEMBL:ENSP00000361066", "ENSEMBL:ENSP00000361066.3"], "information_content": 87.2}
{"id": "MONDO:0005636", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adenosarcoma", "equivalent_identifiers": ["MONDO:0005636", "DOID:1974", "EFO:0007134", "UMLS:C0001442", "MESH:D018195", "NCIT:C9474", "SNOMEDCT:31470003", "medgen:126"], "information_content": 80.2}
{"id": "NCBIGene:10103", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPAN1", "equivalent_identifiers": ["NCBIGene:10103", "ENSEMBL:ENSG00000117472", "HGNC:20657", "OMIM:613170", "UMLS:C1540081", "UniProtKB:O60635", "PR:O60635", "ENSEMBL:ENSP00000361072", "ENSEMBL:ENSP00000361072.1", "UMLS:C1698870", "MESH:C508125"], "information_content": 92.8}
{"id": "NCBIGene:6130", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL7A", "equivalent_identifiers": ["NCBIGene:6130", "ENSEMBL:ENSG00000148303", "HGNC:10364", "OMIM:185640", "UMLS:C1335639", "UniProtKB:P62424", "PR:P62424", "ENSEMBL:ENSP00000361076", "ENSEMBL:ENSP00000361076.3", "ENSEMBL:ENSP00000487443", "ENSEMBL:ENSP00000487443.1", "UMLS:C0073263", "MESH:C057838"], "information_content": 87.2}
{"id": "NCBIGene:10974", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADIRF", "equivalent_identifiers": ["NCBIGene:10974", "ENSEMBL:ENSG00000148671", "HGNC:24043", "OMIM:621163", "UMLS:C1538416", "UniProtKB:Q15847", "PR:Q15847", "ENSEMBL:ENSP00000361083", "ENSEMBL:ENSP00000361083.3", "ENSEMBL:ENSP00000475582", "ENSEMBL:ENSP00000475582.1", "UMLS:C3710736", "MESH:C584291"], "information_content": 95.4}
{"id": "NCBIGene:6623", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNCG", "equivalent_identifiers": ["NCBIGene:6623", "ENSEMBL:ENSG00000173267", "HGNC:11141", "OMIM:602998", "UMLS:C1335851", "UniProtKB:F8W754", "ENSEMBL:ENSP00000344658", "ENSEMBL:ENSP00000344658.4", "UniProtKB:O76070", "PR:O76070", "ENSEMBL:ENSP00000361087", "ENSEMBL:ENSP00000361087.3", "UMLS:C1430654", "MESH:C104249", "UniProtKB:Q6FHG5"], "information_content": 88.2}
{"id": "NCBIGene:51249", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM69", "equivalent_identifiers": ["NCBIGene:51249", "ENSEMBL:ENSG00000159596", "HGNC:28035", "UMLS:C1823333", "UniProtKB:Q5SWH9", "PR:Q5SWH9", "ENSEMBL:ENSP00000361095", "ENSEMBL:ENSP00000361095.4"], "information_content": 92.8}
{"id": "NCBIGene:79812", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMRN2", "equivalent_identifiers": ["NCBIGene:79812", "ENSEMBL:ENSG00000173269", "HGNC:19888", "OMIM:608925", "UMLS:C1426507", "UniProtKB:Q9H8L6", "PR:Q9H8L6", "ENSEMBL:ENSP00000361097", "ENSEMBL:ENSP00000361097.4"], "information_content": 88.2}
{"id": "NCBIGene:657", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BMPR1A", "equivalent_identifiers": ["NCBIGene:657", "ENSEMBL:ENSG00000107779", "HGNC:1076", "OMIM:601299", "UMLS:C1332430", "UniProtKB:P36894", "PR:P36894", "ENSEMBL:ENSP00000361107", "ENSEMBL:ENSP00000361107.2", "ENSEMBL:ENSP00000483569", "ENSEMBL:ENSP00000483569.2", "ENSEMBL:ENSP00000489707", "ENSEMBL:ENSP00000489707.1", "ENSEMBL:ENSP00000490273", "ENSEMBL:ENSP00000490273.1", "ENSEMBL:ENSP00000492290", "ENSEMBL:ENSP00000492290.1", "ENSEMBL:ENSP00000518974", "ENSEMBL:ENSP00000518974.1", "ENSEMBL:ENSP00000518977", "ENSEMBL:ENSP00000518977.1", "UMLS:C1312139", "MESH:C498211"], "information_content": 82.6}
{"id": "UniProtKB:Q8N5D6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5D6-1", "PR:Q8N5D6-1", "ENSEMBL:ENSP00000361110", "ENSEMBL:ENSP00000361110.3"], "information_content": 100.0}
{"id": "MONDO:0014071", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11", "equivalent_identifiers": ["MONDO:0014071", "DOID:0111230", "OMIM:615181", "UMLS:C3554638", "medgen:767552"], "information_content": 100.0}
{"id": "UniProtKB:Q9BU40-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chordin-like protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BU40-4", "PR:Q9BU40-4", "ENSEMBL:ENSP00000361112", "ENSEMBL:ENSP00000361112.1"], "information_content": 100.0}
{"id": "UniProtKB:Q12967-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ral guanine nucleotide dissociation stimulator isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12967-1", "PR:Q12967-1", "ENSEMBL:ENSP00000361120", "ENSEMBL:ENSP00000361120.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5U3C3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 164 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5U3C3-1", "PR:Q5U3C3-1", "ENSEMBL:ENSP00000361138", "ENSEMBL:ENSP00000361138.2", "ENSEMBL:ENSP00000361143", "ENSEMBL:ENSP00000361143.1", "ENSEMBL:ENSP00000520920", "ENSEMBL:ENSP00000520920.1"], "information_content": 100.0}
{"id": "NCBIGene:10327", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AKR1A1", "equivalent_identifiers": ["NCBIGene:10327", "ENSEMBL:ENSG00000117448", "HGNC:380", "OMIM:103830", "UMLS:C1412321", "UniProtKB:P14550", "PR:P14550", "ENSEMBL:ENSP00000312606", "ENSEMBL:ENSP00000312606.4", "ENSEMBL:ENSP00000361140", "ENSEMBL:ENSP00000361140.3", "ENSEMBL:ENSP00000480713", "ENSEMBL:ENSP00000480713.1", "UMLS:C3659502", "MESH:C580929", "UniProtKB:V9HWI0"], "information_content": 90.9}
{"id": "UniProtKB:Q9UHM6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanopsin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHM6-2", "PR:Q9UHM6-2", "ENSEMBL:ENSP00000361141", "ENSEMBL:ENSP00000361141.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96GM8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "target of EGR1 protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GM8-1", "PR:Q96GM8-1", "ENSEMBL:ENSP00000361162", "ENSEMBL:ENSP00000361162.5"], "information_content": 100.0}
{"id": "NCBIGene:23630", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNE5", "equivalent_identifiers": ["NCBIGene:23630", "ENSEMBL:ENSG00000176076", "HGNC:6241", "OMIM:300328", "UMLS:C1416564", "UniProtKB:Q9UJ90", "PR:Q9UJ90", "ENSEMBL:ENSP00000361173", "ENSEMBL:ENSP00000361173.2", "UMLS:C1174730", "MESH:C502068"], "information_content": 100.0}
{"id": "MONDO:0011748", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1G", "equivalent_identifiers": ["MONDO:0011748", "DOID:0110834", "OMIM:606943", "UMLS:C1847089", "MESH:C564643", "medgen:339683"], "information_content": 100.0}
{"id": "NCBIGene:26103", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRIT1", "equivalent_identifiers": ["NCBIGene:26103", "ENSEMBL:ENSG00000148602", "HGNC:23404", "OMIM:616103", "UMLS:C1428072", "UniProtKB:Q9P2V4", "PR:Q9P2V4", "ENSEMBL:ENSP00000361177", "ENSEMBL:ENSP00000361177.3", "UMLS:C1438966", "MESH:C408608"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y5Q8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription factor 3C polypeptide 5 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5Q8-3", "PR:Q9Y5Q8-3", "ENSEMBL:ENSP00000361180", "ENSEMBL:ENSP00000361180.5"], "information_content": 100.0}
{"id": "NCBIGene:112858", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TP53RK", "equivalent_identifiers": ["NCBIGene:112858", "ENSEMBL:ENSG00000172315", "HGNC:16197", "OMIM:608679", "UMLS:C1540041", "UniProtKB:Q96S44", "PR:Q96S44", "ENSEMBL:ENSP00000361186", "ENSEMBL:ENSP00000361186.3", "UMLS:C1432359", "MESH:C441644"], "information_content": 95.4}
{"id": "NCBIGene:387695", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR15LG", "equivalent_identifiers": ["NCBIGene:387695", "ENSEMBL:ENSG00000188373", "HGNC:31428", "OMIM:617775", "UMLS:C1538399", "UniProtKB:Q6UWK7", "PR:Q6UWK7", "ENSEMBL:ENSP00000361199", "ENSEMBL:ENSP00000361199.3"], "information_content": 100.0}
{"id": "NCBIGene:8471", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IRS4", "equivalent_identifiers": ["NCBIGene:8471", "ENSEMBL:ENSG00000133124", "HGNC:6128", "OMIM:300904", "UMLS:C1334142", "UniProtKB:A0A804CF45", "ENSEMBL:ENSP00000361202", "ENSEMBL:ENSP00000361202.3", "UniProtKB:O14654", "PR:O14654", "ENSEMBL:ENSP00000505547", "ENSEMBL:ENSP00000505547.1", "UMLS:C2362594", "MESH:C107686"]}
{"id": "UniProtKB:Q9NVS2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein mL66 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVS2-1", "PR:Q9NVS2-1", "ENSEMBL:ENSP00000361206", "ENSEMBL:ENSP00000361206.3"], "information_content": 100.0}
{"id": "NCBIGene:27069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GHITM", "equivalent_identifiers": ["NCBIGene:27069", "ENSEMBL:ENSG00000165678", "HGNC:17281", "OMIM:619205", "UMLS:C1424872", "UniProtKB:Q9H3K2", "PR:Q9H3K2", "ENSEMBL:ENSP00000361207", "ENSEMBL:ENSP00000361207.3", "ENSEMBL:ENSP00000508495", "ENSEMBL:ENSP00000508495.1", "ENSEMBL:ENSP00000508559", "ENSEMBL:ENSP00000508559.1", "ENSEMBL:ENSP00000509112", "ENSEMBL:ENSP00000509112.1", "ENSEMBL:ENSP00000509674", "ENSEMBL:ENSP00000509674.1", "ENSEMBL:ENSP00000509697", "ENSEMBL:ENSP00000509697.1", "ENSEMBL:ENSP00000509708", "ENSEMBL:ENSP00000509708.1", "ENSEMBL:ENSP00000510216", "ENSEMBL:ENSP00000510216.1", "ENSEMBL:ENSP00000510236", "ENSEMBL:ENSP00000510236.1", "ENSEMBL:ENSP00000510576", "ENSEMBL:ENSP00000510576.1", "UMLS:C2605759", "MESH:C533269"], "information_content": 95.4}
{"id": "UniProtKB:P56975-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pro-neuregulin-3, membrane-bound isoform isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P56975-4", "PR:P56975-4", "ENSEMBL:ENSP00000361214", "ENSEMBL:ENSP00000361214.2"], "information_content": 100.0}
{"id": "NCBIGene:9329", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GTF3C4", "equivalent_identifiers": ["NCBIGene:9329", "ENSEMBL:ENSG00000125484", "HGNC:4667", "OMIM:604892", "UMLS:C1333727", "UniProtKB:B3KNH2", "UniProtKB:Q9UKN8", "PR:Q9UKN8", "ENSEMBL:ENSP00000361219", "ENSEMBL:ENSP00000361219.4", "UMLS:C1451676", "MESH:C000730273"], "information_content": 89.4}
{"id": "UniProtKB:Q8NG11-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetraspanin-14 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NG11-1", "PR:Q8NG11-1", "ENSEMBL:ENSP00000361229", "ENSEMBL:ENSP00000361229.1", "ENSEMBL:ENSP00000361231", "ENSEMBL:ENSP00000361231.1", "ENSEMBL:ENSP00000396270", "ENSEMBL:ENSP00000396270.2", "ENSEMBL:ENSP00000519706", "ENSEMBL:ENSP00000519706.1", "ENSEMBL:ENSP00000519709", "ENSEMBL:ENSP00000519709.1", "ENSEMBL:ENSP00000519710", "ENSEMBL:ENSP00000519710.1", "ENSEMBL:ENSP00000519711", "ENSEMBL:ENSP00000519711.1", "ENSEMBL:ENSP00000519712", "ENSEMBL:ENSP00000519712.1", "ENSEMBL:ENSP00000519713", "ENSEMBL:ENSP00000519713.1", "ENSEMBL:ENSP00000519714", "ENSEMBL:ENSP00000519714.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H8H2-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent DNA helicase DDX31 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8H2-5", "PR:Q9H8H2-5", "ENSEMBL:ENSP00000361232", "ENSEMBL:ENSP00000361232.4"], "information_content": 100.0}
{"id": "MONDO:0002797", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood medulloblastoma", "equivalent_identifiers": ["MONDO:0002797", "DOID:3869", "UMLS:C0278510", "NCIT:C3997", "medgen:75829"], "information_content": 83.6}
{"id": "UniProtKB:Q9H1X1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "radial spoke head protein 9 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1X1-2", "PR:Q9H1X1-2", "ENSEMBL:ENSP00000361238", "ENSEMBL:ENSP00000361238.4"], "information_content": 100.0}
{"id": "UniProtKB:Q13905-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rap guanine nucleotide exchange factor 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q13905-3", "PR:Q13905-3", "ENSEMBL:ENSP00000361264", "ENSEMBL:ENSP00000361264.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6C5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein patched homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6C5-1", "PR:Q9Y6C5-1", "ENSEMBL:ENSP00000361266", "ENSEMBL:ENSP00000361266.3"], "information_content": 100.0}
{"id": "NCBIGene:1263", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLK3", "equivalent_identifiers": ["NCBIGene:1263", "ENSEMBL:ENSG00000173846", "HGNC:2154", "OMIM:602913", "UMLS:C1413549", "UniProtKB:Q9H4B4", "PR:Q9H4B4", "ENSEMBL:ENSP00000361275", "ENSEMBL:ENSP00000361275.4", "ENSEMBL:ENSP00000520901", "ENSEMBL:ENSP00000520901.1", "UMLS:C1435926", "MESH:C486256"], "information_content": 95.4}
{"id": "NCBIGene:266675", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BEST4", "equivalent_identifiers": ["NCBIGene:266675", "ENSEMBL:ENSG00000142959", "HGNC:17106", "OMIM:607336", "UMLS:C1826424", "UniProtKB:Q8NFU0", "PR:Q8NFU0", "ENSEMBL:ENSP00000361281", "ENSEMBL:ENSP00000361281.3", "UMLS:C1143782", "MESH:C465971"], "information_content": 90.9}
{"id": "UniProtKB:Q9HA47-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uridine-cytidine kinase 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9HA47-4", "PR:Q9HA47-4", "ENSEMBL:ENSP00000361285", "ENSEMBL:ENSP00000361285.3"], "information_content": 100.0}
{"id": "NCBIGene:4143", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAT1A", "equivalent_identifiers": ["NCBIGene:4143", "ENSEMBL:ENSG00000151224", "HGNC:6903", "OMIM:610550", "UMLS:C1417038", "UniProtKB:Q00266", "PR:Q00266", "ENSEMBL:ENSP00000361287", "ENSEMBL:ENSP00000361287.3", "UMLS:C1671958", "MESH:C506577"], "information_content": 100.0}
{"id": "UniProtKB:Q99661-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF2C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99661-1", "PR:Q99661-1", "ENSEMBL:ENSP00000361298", "ENSEMBL:ENSP00000361298.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6A1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein O-mannosyl-transferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6A1-1", "PR:Q9Y6A1-1", "ENSEMBL:ENSP00000361302", "ENSEMBL:ENSP00000361302.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WYN0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine protease ATG4A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYN0-1", "PR:Q8WYN0-1", "ENSEMBL:ENSP00000361306", "ENSEMBL:ENSP00000361306.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y253-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA polymerase eta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y253-1", "PR:Q9Y253-1", "ENSEMBL:ENSP00000361310", "ENSEMBL:ENSP00000361310.4"], "information_content": 100.0}
{"id": "MONDO:0013216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia 9", "equivalent_identifiers": ["MONDO:0013216", "DOID:0111884", "OMIM:613308", "UMLS:C2750081", "MESH:C567650", "NCIT:C176918", "medgen:412874"], "information_content": 100.0}
{"id": "UniProtKB:Q6P2H8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 53 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P2H8-1", "PR:Q6P2H8-1", "ENSEMBL:ENSP00000361311", "ENSEMBL:ENSP00000361311.3"], "information_content": 100.0}
{"id": "MONDO:0859226", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniotubular dysplasia, Ikegawa type", "equivalent_identifiers": ["MONDO:0859226", "DOID:0112340", "OMIM:619727", "UMLS:C5575335", "medgen:1806238"], "information_content": 100.0}
{"id": "UniProtKB:O43414-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ERI1 exoribonuclease 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43414-1", "PR:O43414-1", "ENSEMBL:ENSP00000361331", "ENSEMBL:ENSP00000361331.2"], "information_content": 100.0}
{"id": "MONDO:0006825", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kuru", "equivalent_identifiers": ["MONDO:0006825", "DOID:648", "orphanet:454745", "EFO:1001008", "UMLS:C0022802", "MESH:D007729", "MEDDRA:10023497", "MEDDRA:10023498", "SNOMEDCT:86188000", "medgen:9653", "icd11.foundation:553889510", "ICD10:A81.81", "ICD9:046.0"], "information_content": 95.4}
{"id": "MONDO:0002680", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic wasting disease", "equivalent_identifiers": ["MONDO:0002680", "DOID:3530", "UMLS:C1135993", "MESH:D034081"], "information_content": 100.0}
{"id": "NCBIGene:84814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLPP7", "equivalent_identifiers": ["NCBIGene:84814", "ENSEMBL:ENSG00000160539", "HGNC:28174", "OMIM:618743", "UMLS:C1826651", "UniProtKB:A0A384NPM3", "UMLS:C5543875", "MESH:C000713669", "UniProtKB:Q8NBV4", "PR:Q8NBV4", "ENSEMBL:ENSP00000361338", "ENSEMBL:ENSP00000361338.3", "UniProtKB:X6R886", "ENSEMBL:ENSP00000361335", "ENSEMBL:ENSP00000361335.1"], "information_content": 92.8}
{"id": "UniProtKB:P25942-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P25942-1", "PR:P25942-1", "ENSEMBL:ENSP00000361359", "ENSEMBL:ENSP00000361359.3"], "information_content": 95.4}
{"id": "NCBIGene:55929", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DMAP1", "equivalent_identifiers": ["NCBIGene:55929", "ENSEMBL:ENSG00000178028", "HGNC:18291", "OMIM:605077", "UMLS:C1425426", "UniProtKB:Q9NPF5", "PR:Q9NPF5", "ENSEMBL:ENSP00000312697", "ENSEMBL:ENSP00000312697.5", "ENSEMBL:ENSP00000354697", "ENSEMBL:ENSP00000354697.6", "ENSEMBL:ENSP00000361363", "ENSEMBL:ENSP00000361363.2", "UMLS:C1312788", "MESH:C411744"], "information_content": 100.0}
{"id": "NCBIGene:6441", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SFTPD", "equivalent_identifiers": ["NCBIGene:6441", "ENSEMBL:ENSG00000133661", "HGNC:10803", "OMIM:178635", "UMLS:C1442759", "UniProtKB:P35247", "PR:P35247", "ENSEMBL:ENSP00000361366", "ENSEMBL:ENSP00000361366.3", "UMLS:C5702570"], "information_content": 88.2}
{"id": "MONDO:0001207", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal respiratory failure", "equivalent_identifiers": ["MONDO:0001207", "DOID:11161", "UMLS:C0521648", "MEDDRA:10028975", "MEDDRA:10038697", "SNOMEDCT:95619009", "medgen:105483", "ICD10:P28.5", "ICD9:770.84"], "information_content": 100.0}
{"id": "NCBIGene:128209", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLF17", "equivalent_identifiers": ["NCBIGene:128209", "ENSEMBL:ENSG00000171872", "HGNC:18830", "OMIM:609602", "UMLS:C1825719", "UniProtKB:Q5JT82", "PR:Q5JT82", "ENSEMBL:ENSP00000361373", "ENSEMBL:ENSP00000361373.3", "UMLS:C1722099", "UMLS:C5400999", "MESH:C510638"], "information_content": 100.0}
{"id": "UniProtKB:Q5VZR2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NUT family member 2G isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VZR2-1", "PR:Q5VZR2-1", "ENSEMBL:ENSP00000361397", "ENSEMBL:ENSP00000361397.3"], "information_content": 100.0}
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{"id": "NCBIGene:4318", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP9", "equivalent_identifiers": ["NCBIGene:4318", "ENSEMBL:ENSG00000100985", "HGNC:7176", "OMIM:120361", "UMLS:C1334523", "UniProtKB:P14780", "PR:P14780", "ENSEMBL:ENSP00000361405", "ENSEMBL:ENSP00000361405.3", "UMLS:C3657771", "MESH:C579270"], "information_content": 83.6}
{"id": "UniProtKB:Q8N539-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibrinogen C domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N539-1", "PR:Q8N539-1", "ENSEMBL:ENSP00000361413", "ENSEMBL:ENSP00000361413.4", "ENSEMBL:ENSP00000414501", "ENSEMBL:ENSP00000414501.1"], "information_content": 100.0}
{"id": "NCBIGene:9670", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IPO13", "equivalent_identifiers": ["NCBIGene:9670", "ENSEMBL:ENSG00000117408", "HGNC:16853", "OMIM:610411", "UMLS:C1424594", "UniProtKB:O94829", "PR:O94829", "ENSEMBL:ENSP00000361418", "ENSEMBL:ENSP00000361418.3", "UMLS:C2352721", "MESH:C527880"], "information_content": 95.4}
{"id": "UniProtKB:P00519-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase ABL1 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P00519-2", "PR:P00519-2", "ENSEMBL:ENSP00000361423", "ENSEMBL:ENSP00000361423.2"], "information_content": 95.4}
{"id": "UniProtKB:Q13868-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exosome complex component RRP4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13868-1", "PR:Q13868-1", "ENSEMBL:ENSP00000361433", "ENSEMBL:ENSP00000361433.5", "ENSEMBL:ENSP00000508620", "ENSEMBL:ENSP00000508620.1"], "information_content": 100.0}
{"id": "NCBIGene:11128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR3A", "equivalent_identifiers": ["NCBIGene:11128", "ENSEMBL:ENSG00000148606", "HGNC:30074", "OMIM:614258", "UMLS:C1538695", "UniProtKB:O14802", "PR:O14802", "ENSEMBL:ENSP00000361446", "ENSEMBL:ENSP00000361446.3", "UMLS:C3711281", "MESH:C585825"], "information_content": 86.3}
{"id": "UniProtKB:Q99576-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TSC22 domain family protein 3 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q99576-3", "PR:Q99576-3", "ENSEMBL:ENSP00000314655", "ENSEMBL:ENSP00000314655.4", "ENSEMBL:ENSP00000361458", "ENSEMBL:ENSP00000361458.4", "ENSEMBL:ENSP00000361459", "ENSEMBL:ENSP00000361459.2", "ENSEMBL:ENSP00000427427", "ENSEMBL:ENSP00000427427.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDM6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disks large homolog 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDM6-1", "PR:Q8TDM6-1", "ENSEMBL:ENSP00000361467", "ENSEMBL:ENSP00000361467.2", "ENSEMBL:ENSP00000484894", "ENSEMBL:ENSP00000484894.1"], "information_content": 100.0}
{"id": "NCBIGene:445", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASS1", "equivalent_identifiers": ["NCBIGene:445", "ENSEMBL:ENSG00000130707", "HGNC:758", "OMIM:603470", "UMLS:C1825092", "UniProtKB:P00966", "PR:P00966", "ENSEMBL:ENSP00000253004", "ENSEMBL:ENSP00000253004.6", "ENSEMBL:ENSP00000361469", "ENSEMBL:ENSP00000361469.2", "ENSEMBL:ENSP00000361471", "ENSEMBL:ENSP00000361471.1", "UMLS:C3888272", "UniProtKB:Q5T6L4"], "information_content": 92.8}
{"id": "UniProtKB:O75164-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase 4A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75164-1", "PR:O75164-1", "ENSEMBL:ENSP00000361473", "ENSEMBL:ENSP00000361473.3"], "information_content": 100.0}
{"id": "UniProtKB:P62166-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal calcium sensor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62166-1", "PR:P62166-1", "ENSEMBL:ENSP00000361475", "ENSEMBL:ENSP00000361475.3"], "information_content": 100.0}
{"id": "NCBIGene:63935", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCIF1", "equivalent_identifiers": ["NCBIGene:63935", "ENSEMBL:ENSG00000100982", "HGNC:16200", "OMIM:618626", "UMLS:C1424077", "UniProtKB:Q9H4Z3", "PR:Q9H4Z3", "ENSEMBL:ENSP00000361486", "ENSEMBL:ENSP00000361486.3", "UMLS:C1175521", "MESH:C472862"], "information_content": 100.0}
{"id": "NCBIGene:25844", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YIPF3", "equivalent_identifiers": ["NCBIGene:25844", "ENSEMBL:ENSG00000137207", "HGNC:21023", "OMIM:609775", "UMLS:C1823888", "UniProtKB:Q5JTD5", "UniProtKB:Q9GZM5", "PR:Q9GZM5", "ENSEMBL:ENSP00000361499", "ENSEMBL:ENSP00000361499.2", "UMLS:C1312979", "MESH:C478651"], "information_content": 84.8}
{"id": "MONDO:0011633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2C", "equivalent_identifiers": ["MONDO:0011633", "DOID:0110182", "OMIM:606071", "orphanet:99937", "UMLS:C1853710", "MESH:C565261", "SNOMEDCT:717010007", "medgen:342947"], "information_content": 100.0}
{"id": "UniProtKB:P60891-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribose-phosphate pyrophosphokinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P60891-1", "PR:P60891-1", "ENSEMBL:ENSP00000361512", "ENSEMBL:ENSP00000361512.4"], "information_content": 100.0}
{"id": "NCBIGene:221424", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC73", "equivalent_identifiers": ["NCBIGene:221424", "ENSEMBL:ENSG00000204052", "HGNC:21375", "UMLS:C3470917", "UniProtKB:Q3B825", "UniProtKB:Q5JTD7", "PR:Q5JTD7", "ENSEMBL:ENSP00000361518", "ENSEMBL:ENSP00000361518.1"], "information_content": 95.4}
{"id": "UniProtKB:Q5JTD0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tight junction-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JTD0-1", "PR:Q5JTD0-1", "ENSEMBL:ENSP00000361522", "ENSEMBL:ENSP00000361522.5", "ENSEMBL:ENSP00000361527", "ENSEMBL:ENSP00000361527.1", "ENSEMBL:ENSP00000408769", "ENSEMBL:ENSP00000408769.2"], "information_content": 100.0}
{"id": "NCBIGene:51759", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C9orf78", "equivalent_identifiers": ["NCBIGene:51759", "ENSEMBL:ENSG00000136819", "HGNC:24932", "OMIM:619569", "UMLS:C1428429", "UniProtKB:Q9NZ63", "PR:Q9NZ63", "ENSEMBL:ENSP00000361524", "ENSEMBL:ENSP00000361524.3"], "information_content": 92.8}
{"id": "MONDO:0012477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 33", "equivalent_identifiers": ["MONDO:0012477", "DOID:0110366", "OMIM:610359", "UMLS:C1835895", "MESH:C563676", "medgen:332080"], "information_content": 100.0}
{"id": "NCBIGene:991", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC20", "equivalent_identifiers": ["NCBIGene:991", "ENSEMBL:ENSG00000117399", "HGNC:1723", "OMIM:603618", "UMLS:C1413256", "UniProtKB:Q12834", "PR:Q12834", "ENSEMBL:ENSP00000308450", "ENSEMBL:ENSP00000308450.5", "ENSEMBL:ENSP00000361540", "ENSEMBL:ENSP00000361540.1", "UMLS:C3539866", "UMLS:C3711573", "MESH:C577488"], "information_content": 83.1}
{"id": "NCBIGene:51450", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRRX2", "equivalent_identifiers": ["NCBIGene:51450", "ENSEMBL:ENSG00000167157", "HGNC:21338", "OMIM:604675", "UMLS:C1427492", "UniProtKB:A0A140VJS2", "UMLS:C1567248", "MESH:C512693", "UniProtKB:Q99811", "PR:Q99811", "ENSEMBL:ENSP00000361547", "ENSEMBL:ENSP00000361547.4"], "information_content": 100.0}
{"id": "UniProtKB:P40238-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thrombopoietin receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P40238-1", "PR:P40238-1", "ENSEMBL:ENSP00000361548", "ENSEMBL:ENSP00000361548.3"], "information_content": 100.0}
{"id": "UniProtKB:P35590-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase receptor Tie-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35590-1", "PR:P35590-1", "ENSEMBL:ENSP00000361554", "ENSEMBL:ENSP00000361554.3"], "information_content": 100.0}
{"id": "NCBIGene:375759", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C9orf50", "equivalent_identifiers": ["NCBIGene:375759", "ENSEMBL:ENSG00000179058", "HGNC:23677", "UMLS:C1824292", "UniProtKB:Q5SZB4", "PR:Q5SZB4", "ENSEMBL:ENSP00000361556", "ENSEMBL:ENSP00000361556.4"], "information_content": 100.0}
{"id": "NCBIGene:5476", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTSA", "equivalent_identifiers": ["NCBIGene:5476", "ENSEMBL:ENSG00000064601", "HGNC:9251", "OMIM:613111", "UMLS:C1824812", "UniProtKB:B4E324", "UniProtKB:P10619", "PR:P10619", "UMLS:C0122642", "MESH:C468629", "UniProtKB:X6R5C5", "UniProtKB:X6R8A1", "ENSEMBL:ENSP00000361562", "ENSEMBL:ENSP00000361562.3", "ENSEMBL:ENSP00000504790", "ENSEMBL:ENSP00000504790.1"]}
{"id": "NCBIGene:114625", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERMAP", "equivalent_identifiers": ["NCBIGene:114625", "ENSEMBL:ENSG00000164010", "HGNC:15743", "OMIM:609017", "UMLS:C1423697", "UniProtKB:A0A1C9HIH9", "UMLS:C1438853", "UniProtKB:Q96PL5", "PR:Q96PL5", "ENSEMBL:ENSP00000361592", "ENSEMBL:ENSP00000361592.3", "ENSEMBL:ENSP00000361595", "ENSEMBL:ENSP00000361595.2"], "information_content": 100.0}
{"id": "NCBIGene:140825", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEURL2", "equivalent_identifiers": ["NCBIGene:140825", "ENSEMBL:ENSG00000124257", "HGNC:16156", "OMIM:608597", "UMLS:C1424033", "UniProtKB:Q9BR09", "PR:Q9BR09", "ENSEMBL:ENSP00000361596", "ENSEMBL:ENSP00000361596.4", "UMLS:C1436452", "MESH:C483082"], "information_content": 100.0}
{"id": "NCBIGene:128497", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA25", "equivalent_identifiers": ["NCBIGene:128497", "ENSEMBL:ENSG00000149634", "HGNC:16158", "OMIM:618936", "UMLS:C3469867", "UniProtKB:Q9BR10", "PR:Q9BR10", "ENSEMBL:ENSP00000361597", "ENSEMBL:ENSP00000361597.3", "UMLS:C2715634", "MESH:C540444"], "information_content": 100.0}
{"id": "NCBIGene:374969", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SVBP", "equivalent_identifiers": ["NCBIGene:374969", "ENSEMBL:ENSG00000177868", "HGNC:29204", "OMIM:617853", "UMLS:C1824548", "UniProtKB:Q8N300", "PR:Q8N300", "ENSEMBL:ENSP00000361599", "ENSEMBL:ENSP00000361599.4", "ENSEMBL:ENSP00000361600", "ENSEMBL:ENSP00000361600.1", "UMLS:C2975763", "MESH:C554361"], "information_content": 92.8}
{"id": "NCBIGene:90204", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZSWIM1", "equivalent_identifiers": ["NCBIGene:90204", "ENSEMBL:ENSG00000168612", "HGNC:16155", "UMLS:C1424032", "UniProtKB:Q9BR11", "PR:Q9BR11", "ENSEMBL:ENSP00000361601", "ENSEMBL:ENSP00000361601.1", "UMLS:C4042577", "MESH:C000595352"], "information_content": 100.0}
{"id": "UniProtKB:Q96F45-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 503 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96F45-1", "PR:Q96F45-1", "ENSEMBL:ENSP00000361602", "ENSEMBL:ENSP00000361602.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5T3U5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family C member 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T3U5-1", "PR:Q5T3U5-1", "ENSEMBL:ENSP00000361608", "ENSEMBL:ENSP00000361608.4"], "information_content": 100.0}
{"id": "NCBIGene:118881", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COMTD1", "equivalent_identifiers": ["NCBIGene:118881", "ENSEMBL:ENSG00000165644", "HGNC:26309", "UMLS:C1539123", "UniProtKB:Q86VU5", "PR:Q86VU5", "ENSEMBL:ENSP00000361616", "ENSEMBL:ENSP00000361616.3"], "information_content": 90.9}
{"id": "UniProtKB:Q86YN1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dolichyldiphosphatase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YN1-1", "PR:Q86YN1-1", "ENSEMBL:ENSP00000361625", "ENSEMBL:ENSP00000361625.4"], "information_content": 100.0}
{"id": "NCBIGene:4904", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YBX1", "equivalent_identifiers": ["NCBIGene:4904", "ENSEMBL:ENSG00000065978", "HGNC:8014", "OMIM:154030", "UMLS:C1823882", "UniProtKB:P67809", "PR:P67809", "ENSEMBL:ENSP00000361626", "ENSEMBL:ENSP00000361626.3", "UMLS:C1312886", "MESH:C070856"], "information_content": 90.9}
{"id": "UniProtKB:Q6NSI4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RPA-related protein RADX isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NSI4-1", "PR:Q6NSI4-1", "ENSEMBL:ENSP00000361628", "ENSEMBL:ENSP00000361628.4"], "information_content": 100.0}
{"id": "MONDO:0016558", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial congenital mirror movements", "equivalent_identifiers": ["MONDO:0016558", "DOID:0111153", "OMIM.PS:157600", "orphanet:238722", "UMLS:C0454455", "UMLS:C5191311", "SNOMEDCT:229247004", "SNOMEDCT:784348007", "medgen:473166", "icd11.foundation:1966778637", "HP:0001335"], "information_content": 88.2}
{"id": "UniProtKB:Q9NR46-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endophilin-B2 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR46-2", "PR:Q9NR46-2", "ENSEMBL:ENSP00000361634", "ENSEMBL:ENSP00000361634.4"], "information_content": 100.0}
{"id": "UniProtKB:P45880-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "non-selective voltage-gated ion channel VDAC2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P45880-1", "PR:P45880-1", "ENSEMBL:ENSP00000361635", "ENSEMBL:ENSP00000361635.1"], "information_content": 100.0}
{"id": "NCBIGene:7125", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNNC2", "equivalent_identifiers": ["NCBIGene:7125", "ENSEMBL:ENSG00000101470", "HGNC:11944", "OMIM:191039", "UMLS:C1420823", "UniProtKB:C9J7T9", "ENSEMBL:ENSP00000361638", "ENSEMBL:ENSP00000361638.1", "UniProtKB:P02585", "PR:P02585", "ENSEMBL:ENSP00000361636", "ENSEMBL:ENSP00000361636.3"], "information_content": 92.8}
{"id": "UniProtKB:Q9HAB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphopantothenate--cysteine ligase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAB8-1", "PR:Q9HAB8-1", "ENSEMBL:ENSP00000361642", "ENSEMBL:ENSP00000361642.3"], "information_content": 100.0}
{"id": "NCBIGene:84217", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZMYND12", "equivalent_identifiers": ["NCBIGene:84217", "ENSEMBL:ENSG00000066185", "HGNC:21192", "UMLS:C1427400", "UniProtKB:B4DX70", "UniProtKB:Q9H0C1", "PR:Q9H0C1", "ENSEMBL:ENSP00000361646", "ENSEMBL:ENSP00000361646.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6Q6R5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine-rich protein 3 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q6Q6R5-3", "PR:Q6Q6R5-3", "ENSEMBL:ENSP00000361650", "ENSEMBL:ENSP00000361650.3"], "information_content": 100.0}
{"id": "MONDO:0001971", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "farmer's lung", "equivalent_identifiers": ["MONDO:0001971", "DOID:14453", "UMLS:C0015634", "MESH:D005203", "MEDDRA:10016221", "MEDDRA:10016222", "MEDDRA:10073657", "NCIT:C34605", "SNOMEDCT:18690003", "medgen:8785", "icd11.foundation:666590509", "ICD10:J67.0", "ICD9:495.0"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPW0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein J3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPW0-1", "PR:Q9UPW0-1", "ENSEMBL:ENSP00000354620", "ENSEMBL:ENSP00000354620.1", "ENSEMBL:ENSP00000361653", "ENSEMBL:ENSP00000361653.1", "ENSEMBL:ENSP00000361654", "ENSEMBL:ENSP00000361654.1", "ENSEMBL:ENSP00000439044", "ENSEMBL:ENSP00000439044.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5SRE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoporin NUP188 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SRE5-1", "PR:Q5SRE5-1", "ENSEMBL:ENSP00000361658", "ENSEMBL:ENSP00000361658.2"], "information_content": 100.0}
{"id": "MONDO:0032926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sandestig-stefanova syndrome", "equivalent_identifiers": ["MONDO:0032926", "DOID:0081272", "OMIM:618804", "UMLS:C5394118", "medgen:1718072"], "information_content": 100.0}
{"id": "NCBIGene:2981", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GUCA2B", "equivalent_identifiers": ["NCBIGene:2981", "ENSEMBL:ENSG00000044012", "HGNC:4683", "OMIM:601271", "UMLS:C1415358", "UniProtKB:Q16661", "PR:Q16661", "ENSEMBL:ENSP00000361662", "ENSEMBL:ENSP00000361662.1"], "information_content": 100.0}
{"id": "NCBIGene:26280", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL1RAPL2", "equivalent_identifiers": ["NCBIGene:26280", "ENSEMBL:ENSG00000189108", "HGNC:5997", "OMIM:300277", "UMLS:C1416399", "UniProtKB:Q9NP60", "PR:Q9NP60", "ENSEMBL:ENSP00000361663", "ENSEMBL:ENSP00000361663.1", "UMLS:C1438937", "MESH:C407644"], "information_content": 92.8}
{"id": "UniProtKB:Q5T1R4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor HIVEP3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T1R4-1", "PR:Q5T1R4-1", "ENSEMBL:ENSP00000361664", "ENSEMBL:ENSP00000361664.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y694-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 22 member 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y694-1", "PR:Q9Y694-1", "ENSEMBL:ENSP00000361666", "ENSEMBL:ENSP00000361666.5"], "information_content": 100.0}
{"id": "NCBIGene:22845", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DOLK", "equivalent_identifiers": ["NCBIGene:22845", "ENSEMBL:ENSG00000175283", "HGNC:23406", "OMIM:610746", "UMLS:C1428074", "UniProtKB:A0A0S2Z597", "UniProtKB:Q9UPQ8", "PR:Q9UPQ8", "ENSEMBL:ENSP00000361667", "ENSEMBL:ENSP00000361667.3"], "information_content": 86.3}
{"id": "NCBIGene:1907", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EDN2", "equivalent_identifiers": ["NCBIGene:1907", "ENSEMBL:ENSG00000127129", "HGNC:3177", "OMIM:131241", "UMLS:C1333329", "UniProtKB:P20800", "PR:P20800", "ENSEMBL:ENSP00000361668", "ENSEMBL:ENSP00000361668.4", "UMLS:C4316928"], "information_content": 100.0}
{"id": "NCBIGene:80712", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ESX1", "equivalent_identifiers": ["NCBIGene:80712", "ENSEMBL:ENSG00000123576", "HGNC:14865", "OMIM:300154", "UMLS:C1825069", "UniProtKB:Q8N693", "PR:Q8N693", "ENSEMBL:ENSP00000361669", "ENSEMBL:ENSP00000361669.4", "UMLS:C1310093", "MESH:C432969"], "information_content": 100.0}
{"id": "NCBIGene:9338", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCEAL1", "equivalent_identifiers": ["NCBIGene:9338", "ENSEMBL:ENSG00000172465", "HGNC:11616", "OMIM:300237", "UMLS:C1420626", "UniProtKB:Q15170", "PR:Q15170", "ENSEMBL:ENSP00000361707", "ENSEMBL:ENSP00000361707.3", "ENSEMBL:ENSP00000361708", "ENSEMBL:ENSP00000361708.3", "ENSEMBL:ENSP00000361709", "ENSEMBL:ENSP00000361709.3", "UMLS:C0255542", "MESH:C087628"], "information_content": 100.0}
{"id": "NCBIGene:85012", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCEAL3", "equivalent_identifiers": ["NCBIGene:85012", "ENSEMBL:ENSG00000196507", "HGNC:28247", "OMIM:301153", "UMLS:C1539942", "UniProtKB:Q969E4", "PR:Q969E4", "ENSEMBL:ENSP00000243286", "ENSEMBL:ENSP00000243286.3", "ENSEMBL:ENSP00000361710", "ENSEMBL:ENSP00000361710.5", "ENSEMBL:ENSP00000361711", "ENSEMBL:ENSP00000361711.1"], "information_content": 100.0}
{"id": "NCBIGene:142684", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB40A", "equivalent_identifiers": ["NCBIGene:142684", "ENSEMBL:ENSG00000172476", "HGNC:18283", "OMIM:301065", "UMLS:C1425419", "UniProtKB:Q8WXH6", "PR:Q8WXH6", "ENSEMBL:ENSP00000305648", "ENSEMBL:ENSP00000305648.1", "ENSEMBL:ENSP00000361716", "ENSEMBL:ENSP00000361716.1"], "information_content": 100.0}
{"id": "NCBIGene:163732", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CITED4", "equivalent_identifiers": ["NCBIGene:163732", "ENSEMBL:ENSG00000179862", "HGNC:18696", "OMIM:606815", "UMLS:C1425716", "UniProtKB:Q96RK1", "PR:Q96RK1", "ENSEMBL:ENSP00000361721", "ENSEMBL:ENSP00000361721.2", "UMLS:C1432451", "MESH:C451405"], "information_content": 100.0}
{"id": "NCBIGene:2021", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ENDOG", "equivalent_identifiers": ["NCBIGene:2021", "ENSEMBL:ENSG00000167136", "HGNC:3346", "OMIM:600440", "UMLS:C1414399", "UniProtKB:E5KNL5", "UniProtKB:Q14249", "PR:Q14249", "ENSEMBL:ENSP00000361725", "ENSEMBL:ENSP00000361725.4"], "information_content": 92.8}
{"id": "UniProtKB:Q00994-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein BEX3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q00994-1", "PR:Q00994-1", "ENSEMBL:ENSP00000361718", "ENSEMBL:ENSP00000361718.1", "ENSEMBL:ENSP00000361728", "ENSEMBL:ENSP00000361728.3"], "information_content": 100.0}
{"id": "NCBIGene:90199", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WFDC8", "equivalent_identifiers": ["NCBIGene:90199", "ENSEMBL:ENSG00000158901", "HGNC:16163", "UMLS:C1424040", "UniProtKB:A0A140VK68", "UMLS:C4077241", "MESH:C000603991", "UniProtKB:Q8IUA0", "PR:Q8IUA0", "ENSEMBL:ENSP00000289953", "ENSEMBL:ENSP00000289953.2", "ENSEMBL:ENSP00000361735", "ENSEMBL:ENSP00000361735.3"], "information_content": 100.0}
{"id": "UniProtKB:O95925-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000361746", "equivalent_identifiers": ["UniProtKB:O95925-1", "ENSEMBL:ENSP00000361746", "ENSEMBL:ENSP00000361746.4"]}
{"id": "UniProtKB:Q96GR4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyltransferase ZDHHC12 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GR4-1", "PR:Q96GR4-1", "ENSEMBL:ENSP00000361748", "ENSEMBL:ENSP00000361748.4"], "information_content": 100.0}
{"id": "UniProtKB:Q14508-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WAP four-disulfide core domain protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14508-1", "PR:Q14508-1", "ENSEMBL:ENSP00000361761", "ENSEMBL:ENSP00000361761.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJD0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulating synaptic membrane exocytosis protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJD0-1", "PR:Q9UJD0-1", "ENSEMBL:ENSP00000361768", "ENSEMBL:ENSP00000361768.1", "ENSEMBL:ENSP00000361769", "ENSEMBL:ENSP00000361769.3"], "information_content": 100.0}
{"id": "UniProtKB:Q01105-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SET isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01105-1", "PR:Q01105-1", "ENSEMBL:ENSP00000361777", "ENSEMBL:ENSP00000361777.4", "ENSEMBL:ENSP00000509032", "ENSEMBL:ENSP00000509032.1"], "information_content": 100.0}
{"id": "NCBIGene:64789", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXO5", "equivalent_identifiers": ["NCBIGene:64789", "ENSEMBL:ENSG00000164002", "HGNC:26115", "OMIM:618601", "UMLS:C1823790", "UniProtKB:Q9H790", "PR:Q9H790", "ENSEMBL:ENSP00000296380", "ENSEMBL:ENSP00000296380.4", "ENSEMBL:ENSP00000351328", "ENSEMBL:ENSP00000351328.2", "ENSEMBL:ENSP00000361788", "ENSEMBL:ENSP00000361788.1", "ENSEMBL:ENSP00000391240", "ENSEMBL:ENSP00000391240.2", "ENSEMBL:ENSP00000392115", "ENSEMBL:ENSP00000392115.2", "ENSEMBL:ENSP00000398437", "ENSEMBL:ENSP00000398437.2", "ENSEMBL:ENSP00000409715", "ENSEMBL:ENSP00000409715.2", "ENSEMBL:ENSP00000413565", "ENSEMBL:ENSP00000413565.2", "ENSEMBL:ENSP00000416857", "ENSEMBL:ENSP00000416857.2", "ENSEMBL:ENSP00000508270", "ENSEMBL:ENSP00000508270.1", "UMLS:C3657992", "MESH:C578285"], "information_content": 95.4}
{"id": "NCBIGene:339559", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFP69", "equivalent_identifiers": ["NCBIGene:339559", "ENSEMBL:ENSG00000187815", "HGNC:24708", "OMIM:617939", "UMLS:C1538212", "UniProtKB:Q49AA0", "PR:Q49AA0", "ENSEMBL:ENSP00000361790", "ENSEMBL:ENSP00000361790.3", "ENSEMBL:ENSP00000361791", "ENSEMBL:ENSP00000361791.1"], "information_content": 100.0}
{"id": "NCBIGene:89891", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYNC2I2", "equivalent_identifiers": ["NCBIGene:89891", "ENSEMBL:ENSG00000119333", "HGNC:28296", "OMIM:613363", "UMLS:C1428686", "UniProtKB:Q96EX3", "PR:Q96EX3", "ENSEMBL:ENSP00000361800", "ENSEMBL:ENSP00000361800.2"], "information_content": 92.8}
{"id": "UniProtKB:Q8WU79-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stromal membrane-associated protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WU79-1", "PR:Q8WU79-1", "ENSEMBL:ENSP00000361803", "ENSEMBL:ENSP00000361803.3"], "information_content": 100.0}
{"id": "MONDO:0007987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kniest dysplasia", "equivalent_identifiers": ["MONDO:0007987", "DOID:0080045", "OMIM:156550", "orphanet:485", "UMLS:C0265279", "MESH:C537207", "MEDDRA:10081685", "NCIT:C125594", "SNOMEDCT:53974002", "medgen:75559", "icd11.foundation:2088691719"], "information_content": 100.0}
{"id": "NCBIGene:55859", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BEX1", "equivalent_identifiers": ["NCBIGene:55859", "ENSEMBL:ENSG00000133169", "HGNC:1036", "OMIM:300690", "UMLS:C1412787", "UniProtKB:Q9HBH7", "PR:Q9HBH7", "ENSEMBL:ENSP00000361813", "ENSEMBL:ENSP00000361813.3", "UMLS:C1172833", "MESH:C469586"], "information_content": 95.4}
{"id": "UniProtKB:P31431-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syndecan-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P31431-1", "PR:P31431-1", "ENSEMBL:ENSP00000361818", "ENSEMBL:ENSP00000361818.3"], "information_content": 100.0}
{"id": "NCBIGene:1298", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL9A2", "equivalent_identifiers": ["NCBIGene:1298", "ENSEMBL:ENSG00000049089", "HGNC:2218", "OMIM:120260", "UMLS:C1413596", "UniProtKB:Q14055", "PR:Q14055", "ENSEMBL:ENSP00000361834", "ENSEMBL:ENSP00000361834.3", "UMLS:C0769883", "MESH:C120282"], "information_content": 82.6}
{"id": "UniProtKB:O95460-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "matrilin-4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O95460-2", "PR:O95460-2", "ENSEMBL:ENSP00000361842", "ENSEMBL:ENSP00000361842.1", "ENSEMBL:ENSP00000440328", "ENSEMBL:ENSP00000440328.1"], "information_content": 100.0}
{"id": "NCBIGene:10269", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZMPSTE24", "equivalent_identifiers": ["NCBIGene:10269", "ENSEMBL:ENSG00000084073", "HGNC:12877", "OMIM:606480", "UMLS:C1421586", "UniProtKB:A0A6Q8PHG9", "ENSEMBL:ENSP00000502683", "ENSEMBL:ENSP00000502683.1", "UniProtKB:O75844", "PR:O75844", "ENSEMBL:ENSP00000361845", "ENSEMBL:ENSP00000361845.3", "UMLS:C0769555", "MESH:C120130"], "information_content": 95.4}
{"id": "UniProtKB:P00749-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "urokinase-type plasminogen activator isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P00749-1", "PR:P00749-1", "ENSEMBL:ENSP00000361850", "ENSEMBL:ENSP00000361850.3"], "information_content": 100.0}
{"id": "NCBIGene:127391", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMCO2", "equivalent_identifiers": ["NCBIGene:127391", "ENSEMBL:ENSG00000188800", "HGNC:23312", "UMLS:C1823294", "UniProtKB:A0A140VKB8", "UniProtKB:Q7Z6W1", "PR:Q7Z6W1", "ENSEMBL:ENSP00000361852", "ENSEMBL:ENSP00000361852.3"], "information_content": 100.0}
{"id": "NCBIGene:6407", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEMG2", "equivalent_identifiers": ["NCBIGene:6407", "ENSEMBL:ENSG00000124157", "HGNC:10743", "OMIM:182141", "UMLS:C1419961", "UniProtKB:Q02383", "PR:Q02383", "ENSEMBL:ENSP00000361855", "ENSEMBL:ENSP00000361855.3", "UMLS:C1448702"], "information_content": 83.1}
{"id": "NCBIGene:6018", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RLF", "equivalent_identifiers": ["NCBIGene:6018", "ENSEMBL:ENSG00000117000", "HGNC:10025", "OMIM:180610", "UMLS:C1419392", "UniProtKB:Q13129", "PR:Q13129", "ENSEMBL:ENSP00000361857", "ENSEMBL:ENSP00000361857.4", "UMLS:C1313665", "UMLS:C3641867", "MESH:C097542"], "information_content": 87.2}
{"id": "NCBIGene:140597", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCEAL2", "equivalent_identifiers": ["NCBIGene:140597", "ENSEMBL:ENSG00000184905", "HGNC:29818", "OMIM:301152", "UMLS:C1539941", "UniProtKB:Q9H3H9", "PR:Q9H3H9", "ENSEMBL:ENSP00000332359", "ENSEMBL:ENSP00000332359.2", "ENSEMBL:ENSP00000361866", "ENSEMBL:ENSP00000361866.1", "ENSEMBL:ENSP00000517392", "ENSEMBL:ENSP00000517392.1", "ENSEMBL:ENSP00000517393", "ENSEMBL:ENSP00000517393.1"], "information_content": 100.0}
{"id": "UniProtKB:P04279-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "semenogelin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P04279-1", "PR:P04279-1", "ENSEMBL:ENSP00000361867", "ENSEMBL:ENSP00000361867.3"], "information_content": 100.0}
{"id": "NCBIGene:128488", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WFDC12", "equivalent_identifiers": ["NCBIGene:128488", "ENSEMBL:ENSG00000168703", "HGNC:16115", "OMIM:609872", "UMLS:C1423996", "UniProtKB:Q8WWY7", "PR:Q8WWY7", "ENSEMBL:ENSP00000361871", "ENSEMBL:ENSP00000361871.3", "UMLS:C1120489", "MESH:C447606"], "information_content": 88.2}
{"id": "UniProtKB:Q01518-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenylyl cyclase-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01518-1", "PR:Q01518-1", "ENSEMBL:ENSP00000361878", "ENSEMBL:ENSP00000361878.2", "ENSEMBL:ENSP00000361883", "ENSEMBL:ENSP00000361883.3", "ENSEMBL:ENSP00000361891", "ENSEMBL:ENSP00000361891.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13043-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13043-1", "PR:Q13043-1", "ENSEMBL:ENSP00000361892", "ENSEMBL:ENSP00000361892.3"], "information_content": 100.0}
{"id": "NCBIGene:27232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNMT", "equivalent_identifiers": ["NCBIGene:27232", "ENSEMBL:ENSG00000124713", "HGNC:4415", "OMIM:606628", "UMLS:C1415165", "UniProtKB:A0A0S2Z5F2", "UMLS:C1530541", "MESH:C494510", "UniProtKB:Q14749", "PR:Q14749", "ENSEMBL:ENSP00000361894", "ENSEMBL:ENSP00000361894.3", "UniProtKB:V9HW60"], "information_content": 95.4}
{"id": "UniProtKB:Q8NA29-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium-dependent lysophosphatidylcholine symporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NA29-1", "PR:Q8NA29-1", "ENSEMBL:ENSP00000361895", "ENSEMBL:ENSP00000361895.5"], "information_content": 100.0}
{"id": "NCBIGene:10953", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOMM34", "equivalent_identifiers": ["NCBIGene:10953", "ENSEMBL:ENSG00000025772", "HGNC:15746", "OMIM:616049", "UMLS:C1423699", "UniProtKB:Q15785", "PR:Q15785", "ENSEMBL:ENSP00000361900", "ENSEMBL:ENSP00000361900.3", "UMLS:C0666526", "MESH:C108485"], "information_content": 100.0}
{"id": "UniProtKB:P34820-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bone morphogenetic protein 8B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P34820-1", "PR:P34820-1", "ENSEMBL:ENSP00000361915", "ENSEMBL:ENSP00000361915.3"], "information_content": 100.0}
{"id": "MONDO:0005819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngeal tuberculosis", "equivalent_identifiers": ["MONDO:0005819", "DOID:1583", "EFO:0007337", "UMLS:C0041315", "MESH:D014387", "MEDDRA:10045072", "NCIT:C26895", "SNOMEDCT:70341005", "medgen:11945", "ICD10:A15.5", "ICD9:012.3"], "information_content": 100.0}
{"id": "NCBIGene:51309", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARMCX1", "equivalent_identifiers": ["NCBIGene:51309", "ENSEMBL:ENSG00000126947", "HGNC:18073", "OMIM:300362", "UMLS:C1538939", "UniProtKB:Q9P291", "PR:Q9P291", "ENSEMBL:ENSP00000361917", "ENSEMBL:ENSP00000361917.3", "UMLS:C0964855", "MESH:C422103"], "information_content": 92.8}
{"id": "UniProtKB:Q9UNP9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidyl-prolyl cis-trans isomerase E isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNP9-3", "PR:Q9UNP9-3", "ENSEMBL:ENSP00000361918", "ENSEMBL:ENSP00000361918.1"], "information_content": 100.0}
{"id": "NCBIGene:3188", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HNRNPH2", "equivalent_identifiers": ["NCBIGene:3188", "ENSEMBL:ENSG00000126945", "HGNC:5042", "OMIM:300610", "UMLS:C1845100", "UniProtKB:A0A384MDT2", "UniProtKB:P55795", "PR:P55795", "ENSEMBL:ENSP00000361927", "ENSEMBL:ENSP00000361927.2", "UMLS:C0762292", "MESH:C116747"], "information_content": 95.4}
{"id": "UniProtKB:P31946-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "14-3-3 protein beta/alpha isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P31946-1", "PR:P31946-1", "ENSEMBL:ENSP00000300161", "ENSEMBL:ENSP00000300161.4", "ENSEMBL:ENSP00000361930", "ENSEMBL:ENSP00000361930.3"], "information_content": 100.0}
{"id": "UniProtKB:Q495W5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-(1,3)-fucosyltransferase 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q495W5-1", "PR:Q495W5-1", "ENSEMBL:ENSP00000361932", "ENSEMBL:ENSP00000361932.3"], "information_content": 100.0}
{"id": "NCBIGene:26508", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HEYL", "equivalent_identifiers": ["NCBIGene:26508", "ENSEMBL:ENSG00000163909", "HGNC:4882", "OMIM:609034", "UMLS:C1415526", "UniProtKB:B4DU20", "UniProtKB:Q9NQ87", "PR:Q9NQ87", "ENSEMBL:ENSP00000361943", "ENSEMBL:ENSP00000361943.3", "UMLS:C1566530", "MESH:C497364"], "information_content": 100.0}
{"id": "UniProtKB:Q13310-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyadenylate-binding protein 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q13310-3", "PR:Q13310-3", "ENSEMBL:ENSP00000361949", "ENSEMBL:ENSP00000361949.3"], "information_content": 100.0}
{"id": "NCBIGene:60598", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNK15", "equivalent_identifiers": ["NCBIGene:60598", "ENSEMBL:ENSG00000124249", "HGNC:13814", "OMIM:607368", "UMLS:C1422209", "UniProtKB:Q9H427", "PR:Q9H427", "ENSEMBL:ENSP00000361952", "ENSEMBL:ENSP00000361952.3", "UMLS:C1448034", "MESH:C431132"], "information_content": 100.0}
{"id": "UniProtKB:O76076-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCN family member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O76076-1", "PR:O76076-1", "ENSEMBL:ENSP00000190983", "ENSEMBL:ENSP00000190983.4", "ENSEMBL:ENSP00000361959", "ENSEMBL:ENSP00000361959.2"], "information_content": 100.0}
{"id": "NCBIGene:100", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADA", "equivalent_identifiers": ["NCBIGene:100", "ENSEMBL:ENSG00000196839", "HGNC:186", "OMIM:608958", "UMLS:C1412179", "UniProtKB:A0A0S2Z381", "UniProtKB:F5GWI4", "ENSEMBL:ENSP00000441818", "ENSEMBL:ENSP00000441818.1", "UniProtKB:P00813", "PR:P00813", "ENSEMBL:ENSP00000361965", "ENSEMBL:ENSP00000361965.4", "UMLS:C2933084", "MESH:C548482"], "information_content": 89.4}
{"id": "NCBIGene:6903", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBCC", "equivalent_identifiers": ["NCBIGene:6903", "ENSEMBL:ENSG00000124659", "HGNC:11580", "OMIM:602971", "UMLS:C1420595", "UniProtKB:Q15814", "PR:Q15814", "ENSEMBL:ENSP00000361967", "ENSEMBL:ENSP00000361967.1"], "information_content": 81.3}
{"id": "UniProtKB:O95900-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pseudouridylate synthase TRUB2, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95900-1", "PR:O95900-1", "ENSEMBL:ENSP00000361982", "ENSEMBL:ENSP00000361982.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase UBR2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWV8-1", "PR:Q8IWV8-1", "ENSEMBL:ENSP00000361990", "ENSEMBL:ENSP00000361990.1"], "information_content": 100.0}
{"id": "NCBIGene:1678", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMM8A", "equivalent_identifiers": ["NCBIGene:1678", "ENSEMBL:ENSG00000126953", "HGNC:11817", "OMIM:300356", "UMLS:C1420740", "UniProtKB:A0A2R8YDA8", "ENSEMBL:ENSP00000494239", "ENSEMBL:ENSP00000494239.1", "ENSEMBL:ENSP00000494385", "ENSEMBL:ENSP00000494385.1", "UMLS:C0765168", "MESH:C118122", "UniProtKB:O60220", "PR:O60220", "ENSEMBL:ENSP00000361993", "ENSEMBL:ENSP00000361993.3"], "information_content": 95.4}
{"id": "UniProtKB:Q5H9L4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription initiation factor TFIID subunit 7-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5H9L4-1", "PR:Q5H9L4-1", "ENSEMBL:ENSP00000361998", "ENSEMBL:ENSP00000361998.3"], "information_content": 100.0}
{"id": "UniProtKB:P20073-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "annexin A7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20073-1", "PR:P20073-1", "ENSEMBL:ENSP00000362010", "ENSEMBL:ENSP00000362010.4"], "information_content": 100.0}
{"id": "UniProtKB:Q05193-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynamin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q05193-1", "PR:Q05193-1", "ENSEMBL:ENSP00000362014", "ENSEMBL:ENSP00000362014.4"], "information_content": 100.0}
{"id": "UniProtKB:Q92674-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centromere protein I isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92674-1", "PR:Q92674-1", "ENSEMBL:ENSP00000362018", "ENSEMBL:ENSP00000362018.1", "ENSEMBL:ENSP00000507595", "ENSEMBL:ENSP00000507595.1", "ENSEMBL:ENSP00000507927", "ENSEMBL:ENSP00000507927.1"], "information_content": 100.0}
{"id": "NCBIGene:59353", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM35A", "equivalent_identifiers": ["NCBIGene:59353", "ENSEMBL:ENSG00000126950", "HGNC:25864", "UMLS:C1540006", "UniProtKB:Q53FP2", "PR:Q53FP2", "ENSEMBL:ENSP00000362021", "ENSEMBL:ENSP00000362021.4"], "information_content": 95.4}
{"id": "MONDO:0010246", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 9", "equivalent_identifiers": ["MONDO:0010246", "DOID:0060848", "OMIM:300088", "orphanet:101039", "UMLS:C1848137", "MESH:C564715", "NCIT:C201590", "medgen:338393"], "information_content": 100.0}
{"id": "UniProtKB:Q96GJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA (uracil-5-)-methyltransferase homolog B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GJ1-1", "PR:Q96GJ1-1", "ENSEMBL:ENSP00000362026", "ENSEMBL:ENSP00000362026.1", "ENSEMBL:ENSP00000362027", "ENSEMBL:ENSP00000362027.3", "ENSEMBL:ENSP00000438134", "ENSEMBL:ENSP00000438134.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3D3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ribosomal subunit protein bS16m isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3D3-1", "PR:Q9Y3D3-1", "ENSEMBL:ENSP00000362036", "ENSEMBL:ENSP00000362036.3"], "information_content": 100.0}
{"id": "NCBIGene:23234", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJC9", "equivalent_identifiers": ["NCBIGene:23234", "ENSEMBL:ENSG00000213551", "HGNC:19123", "OMIM:611206", "UMLS:C1426029", "UniProtKB:Q8WXX5", "PR:Q8WXX5", "ENSEMBL:ENSP00000362041", "ENSEMBL:ENSP00000362041.4", "UMLS:C1530449", "MESH:C494654"], "information_content": 100.0}
{"id": "UniProtKB:Q6PP77-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "XK-related protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PP77-1", "PR:Q6PP77-1", "ENSEMBL:ENSP00000362047", "ENSEMBL:ENSP00000362047.2"], "information_content": 100.0}
{"id": "MONDO:0011811", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome", "equivalent_identifiers": ["MONDO:0011811", "DOID:0111611", "OMIM:607317", "orphanet:95434", "UMLS:C1846492", "MESH:C537310", "medgen:335442"], "information_content": 100.0}
{"id": "UniProtKB:P43080", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GUC1A_HUMAN Guanylyl cyclase-activating protein 1 (sprot)", "equivalent_identifiers": ["UniProtKB:P43080", "PR:P43080", "ENSEMBL:ENSP00000362049", "ENSEMBL:ENSP00000362049.1"], "information_content": 95.4}
{"id": "UniProtKB:X6R8D5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000362054", "equivalent_identifiers": ["UniProtKB:X6R8D5-2", "ENSEMBL:ENSP00000362054", "ENSEMBL:ENSP00000362054.3"]}
{"id": "UniProtKB:Q9Y5S8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADPH oxidase 1 isoform NOH-1L (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5S8-1", "PR:Q9Y5S8-1", "ENSEMBL:ENSP00000362057", "ENSEMBL:ENSP00000362057.3"], "information_content": 100.0}
{"id": "NCBIGene:4725", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFS5", "equivalent_identifiers": ["NCBIGene:4725", "ENSEMBL:ENSG00000168653", "HGNC:7712", "OMIM:603847", "UMLS:C1417648", "UniProtKB:O43920", "PR:O43920", "ENSEMBL:ENSP00000362058", "ENSEMBL:ENSP00000362058.3", "ENSEMBL:ENSP00000362060", "ENSEMBL:ENSP00000362060.3", "UMLS:C5433362", "MESH:C000711583", "UniProtKB:Q6IBA0"], "information_content": 85.5}
{"id": "UniProtKB:Q7Z7C8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription initiation factor TFIID subunit 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z7C8-1", "PR:Q7Z7C8-1", "ENSEMBL:ENSP00000362068", "ENSEMBL:ENSP00000362068.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BR39-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "junctophilin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BR39-1", "PR:Q9BR39-1", "ENSEMBL:ENSP00000362071", "ENSEMBL:ENSP00000362071.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96C24-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptotagmin-like protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96C24-1", "PR:Q96C24-1", "ENSEMBL:ENSP00000263033", "ENSEMBL:ENSP00000263033.5", "ENSEMBL:ENSP00000276141", "ENSEMBL:ENSP00000276141.6", "ENSEMBL:ENSP00000362080", "ENSEMBL:ENSP00000362080.1", "ENSEMBL:ENSP00000509693", "ENSEMBL:ENSP00000509693.1"], "information_content": 100.0}
{"id": "UniProtKB:P30281-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G1/S-specific cyclin-D3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P30281-1", "PR:P30281-1", "ENSEMBL:ENSP00000362082", "ENSEMBL:ENSP00000362082.5"], "information_content": 100.0}
{"id": "NCBIGene:64121", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RRAGC", "equivalent_identifiers": ["NCBIGene:64121", "ENSEMBL:ENSG00000116954", "HGNC:19902", "OMIM:608267", "UMLS:C1426517", "UniProtKB:B4DQ03", "UniProtKB:B4DQG4", "UniProtKB:Q9HB90", "PR:Q9HB90", "ENSEMBL:ENSP00000362092", "ENSEMBL:ENSP00000362092.3", "UMLS:C0967698", "MESH:C430722"], "information_content": 95.4}
{"id": "UniProtKB:Q9H1H1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gametocyte-specific factor 1-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1H1-1", "PR:Q9H1H1-1", "ENSEMBL:ENSP00000362094", "ENSEMBL:ENSP00000362094.1"], "information_content": 100.0}
{"id": "NCBIGene:27286", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRPX2", "equivalent_identifiers": ["NCBIGene:27286", "ENSEMBL:ENSG00000102359", "HGNC:30668", "OMIM:300642", "UMLS:C1539853", "UniProtKB:O60687", "PR:O60687", "ENSEMBL:ENSP00000362095", "ENSEMBL:ENSP00000362095.3", "UMLS:C1308890", "MESH:C116881"], "information_content": 100.0}
{"id": "MONDO:0005638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agnosia", "equivalent_identifiers": ["MONDO:0005638", "DOID:4090", "EFO:0007136", "UMLS:C0001816", "UMLS:C0150075", "MESH:D000377", "MEDDRA:10048663", "NCIT:C84542", "SNOMEDCT:130985008", "SNOMEDCT:42341009", "medgen:174", "icd11.foundation:1315065296", "ICD10:R48.1", "HP:0010524"], "information_content": 75.0}
{"id": "MONDO:0014300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "proximal myopathy with extrapyramidal signs", "equivalent_identifiers": ["MONDO:0014300", "DOID:0111335", "OMIM:615673", "orphanet:401768", "UMLS:C3810285", "medgen:816615"], "information_content": 100.0}
{"id": "NCBIGene:5453", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POU3F1", "equivalent_identifiers": ["NCBIGene:5453", "ENSEMBL:ENSG00000185668", "HGNC:9214", "OMIM:602479", "UMLS:C1418761", "UniProtKB:Q03052", "PR:Q03052", "ENSEMBL:ENSP00000362103", "ENSEMBL:ENSP00000362103.2", "UMLS:C1456452", "MESH:C494178"], "information_content": 95.4}
{"id": "UniProtKB:P80188-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neutrophil gelatinase-associated lipocalin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P80188-1", "PR:P80188-1", "ENSEMBL:ENSP00000277480", "ENSEMBL:ENSP00000277480.2", "ENSEMBL:ENSP00000362108", "ENSEMBL:ENSP00000362108.1"], "information_content": 100.0}
{"id": "NCBIGene:10946", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SF3A3", "equivalent_identifiers": ["NCBIGene:10946", "ENSEMBL:ENSG00000183431", "HGNC:10767", "OMIM:605596", "UMLS:C1419979", "UniProtKB:B4DW90", "UniProtKB:Q12874", "PR:Q12874", "ENSEMBL:ENSP00000362110", "ENSEMBL:ENSP00000362110.4"], "information_content": 87.2}
{"id": "UniProtKB:P32019-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "type II inositol 1,4,5-trisphosphate 5-phosphatase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P32019-2", "PR:P32019-2", "ENSEMBL:ENSP00000362115", "ENSEMBL:ENSP00000362115.3"], "information_content": 100.0}
{"id": "UniProtKB:P20142-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gastricsin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20142-1", "PR:P20142-1", "ENSEMBL:ENSP00000362116", "ENSEMBL:ENSP00000362116.3"], "information_content": 100.0}
{"id": "NCBIGene:51098", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFT52", "equivalent_identifiers": ["NCBIGene:51098", "ENSEMBL:ENSG00000101052", "HGNC:15901", "OMIM:617094", "UMLS:C1825567", "UniProtKB:Q9Y366", "PR:Q9Y366", "ENSEMBL:ENSP00000362121", "ENSEMBL:ENSP00000362121.3", "ENSEMBL:ENSP00000362130", "ENSEMBL:ENSP00000362130.4", "UMLS:C4508027", "MESH:C000621073"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2S6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tenomodulin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2S6-1", "PR:Q9H2S6-1", "ENSEMBL:ENSP00000362122", "ENSEMBL:ENSP00000362122.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAB3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin-19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAB3-1", "PR:Q8TAB3-1", "ENSEMBL:ENSP00000362125", "ENSEMBL:ENSP00000362125.4"], "information_content": 100.0}
{"id": "NCBIGene:4520", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTF1", "equivalent_identifiers": ["NCBIGene:4520", "ENSEMBL:ENSG00000188786", "HGNC:7428", "OMIM:600172", "UMLS:C1417419", "UniProtKB:Q14872", "PR:Q14872", "ENSEMBL:ENSP00000362127", "ENSEMBL:ENSP00000362127.3", "UMLS:C1610457", "MESH:C000728074"], "information_content": 90.9}
{"id": "MONDO:0001762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentine erosion", "equivalent_identifiers": ["MONDO:0001762", "DOID:13629", "UMLS:C1456162", "medgen:1843465", "ICD9:521.32"], "information_content": 100.0}
{"id": "NCBIGene:29935", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPA4", "equivalent_identifiers": ["NCBIGene:29935", "ENSEMBL:ENSG00000204086", "HGNC:30305", "OMIM:300767", "UMLS:C1538883", "UniProtKB:Q13156", "PR:Q13156", "ENSEMBL:ENSP00000362131", "ENSEMBL:ENSP00000362131.3", "UMLS:C2932790", "MESH:C548164"], "information_content": 100.0}
{"id": "NCBIGene:79693", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YRDC", "equivalent_identifiers": ["NCBIGene:79693", "ENSEMBL:ENSG00000196449", "HGNC:28905", "OMIM:612276", "UMLS:C1823895", "UniProtKB:Q86U90", "PR:Q86U90", "ENSEMBL:ENSP00000362135", "ENSEMBL:ENSP00000362135.2", "UMLS:C1313070", "MESH:C478762"], "information_content": 90.9}
{"id": "UniProtKB:Q5JZY3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin type-A receptor 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JZY3-1", "PR:Q5JZY3-1", "ENSEMBL:ENSP00000362139", "ENSEMBL:ENSP00000362139.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8NE86-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium uniporter protein, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NE86-1", "PR:Q8NE86-1", "ENSEMBL:ENSP00000362144", "ENSEMBL:ENSP00000362144.3"], "information_content": 100.0}
{"id": "NCBIGene:55143", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDCA8", "equivalent_identifiers": ["NCBIGene:55143", "ENSEMBL:ENSG00000134690", "HGNC:14629", "OMIM:609977", "UMLS:C1422801", "UniProtKB:Q53HL2", "PR:Q53HL2", "ENSEMBL:ENSP00000316121", "ENSEMBL:ENSP00000316121.2", "ENSEMBL:ENSP00000362146", "ENSEMBL:ENSP00000362146.1", "UMLS:C1506517", "MESH:C490157"], "information_content": 92.8}
{"id": "NCBIGene:29889", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNL2", "equivalent_identifiers": ["NCBIGene:29889", "ENSEMBL:ENSG00000134697", "HGNC:29925", "OMIM:609365", "UMLS:C1539587", "UniProtKB:Q13823", "PR:Q13823", "ENSEMBL:ENSP00000362153", "ENSEMBL:ENSP00000362153.3", "UniProtKB:Q5T0F3"], "information_content": 95.4}
{"id": "UniProtKB:Q6KCM7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial adenyl nucleotide antiporter SLC25A25 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6KCM7-3", "PR:Q6KCM7-3", "ENSEMBL:ENSP00000362160", "ENSEMBL:ENSP00000362160.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAF1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromatin modification-related protein MEAF6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAF1-3", "PR:Q9HAF1-3", "ENSEMBL:ENSP00000362166", "ENSEMBL:ENSP00000362166.2"], "information_content": 100.0}
{"id": "UniProtKB:Q69YI7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear apoptosis-inducing factor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q69YI7-1", "PR:Q69YI7-1", "ENSEMBL:ENSP00000362170", "ENSEMBL:ENSP00000362170.4"], "information_content": 100.0}
{"id": "NCBIGene:4675", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAP1L3", "equivalent_identifiers": ["NCBIGene:4675", "ENSEMBL:ENSG00000186310", "HGNC:7639", "OMIM:300117", "UMLS:C1417597", "UniProtKB:Q8IYV1", "UMLS:C0675063", "MESH:C112325", "UniProtKB:Q99457", "PR:Q99457", "ENSEMBL:ENSP00000362171", "ENSEMBL:ENSP00000362171.3"], "information_content": 100.0}
{"id": "NCBIGene:80149", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZC3H12A", "equivalent_identifiers": ["NCBIGene:80149", "ENSEMBL:ENSG00000163874", "HGNC:26259", "OMIM:610562", "UMLS:C1823924", "UniProtKB:A0A1W2PQC8", "ENSEMBL:ENSP00000492053", "ENSEMBL:ENSP00000492053.1", "UniProtKB:Q5D1E8", "PR:Q5D1E8", "ENSEMBL:ENSP00000362179", "ENSEMBL:ENSP00000362179.5", "UMLS:C1722107", "MESH:C510646"], "information_content": 100.0}
{"id": "UniProtKB:O95944-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "natural cytotoxicity triggering receptor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95944-1", "PR:O95944-1", "ENSEMBL:ENSP00000362181", "ENSEMBL:ENSP00000362181.5"], "information_content": 100.0}
{"id": "UniProtKB:Q13003-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor ionotropic, kainate 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13003-1", "PR:Q13003-1", "ENSEMBL:ENSP00000362183", "ENSEMBL:ENSP00000362183.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZA7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin-11 X-linked isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZA7-1", "PR:Q9BZA7-1", "ENSEMBL:ENSP00000362186", "ENSEMBL:ENSP00000362186.1", "ENSEMBL:ENSP00000507225", "ENSEMBL:ENSP00000507225.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5T9C2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "early estrogen-induced gene 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T9C2-1", "PR:Q5T9C2-1", "ENSEMBL:ENSP00000362187", "ENSEMBL:ENSP00000362187.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99062-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "granulocyte colony-stimulating factor receptor isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q99062-3", "PR:Q99062-3", "ENSEMBL:ENSP00000362195", "ENSEMBL:ENSP00000362195.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZC2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "triggering receptor expressed on myeloid cells 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZC2-1", "PR:Q9NZC2-1", "ENSEMBL:ENSP00000362205", "ENSEMBL:ENSP00000362205.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0H6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0H6-2", "PR:Q9C0H6-2", "ENSEMBL:ENSP00000362206", "ENSEMBL:ENSP00000362206.4"], "information_content": 100.0}
{"id": "NCBIGene:9469", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHST3", "equivalent_identifiers": ["NCBIGene:9469", "ENSEMBL:ENSG00000122863", "HGNC:1971", "OMIM:603799", "UMLS:C1413416", "UniProtKB:Q7LGC8", "PR:Q7LGC8", "ENSEMBL:ENSP00000362207", "ENSEMBL:ENSP00000362207.4", "UMLS:C2000665", "MESH:C000728084"], "information_content": 87.2}
{"id": "UniProtKB:Q96NX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dachshund homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NX9-1", "PR:Q96NX9-1", "ENSEMBL:ENSP00000362217", "ENSEMBL:ENSP00000362217.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N2I9-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase 40 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2I9-4", "PR:Q8N2I9-4", "ENSEMBL:ENSP00000362222", "ENSEMBL:ENSP00000362222.3"], "information_content": 100.0}
{"id": "UniProtKB:Q969X2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q969X2-3", "PR:Q969X2-3", "ENSEMBL:ENSP00000362235", "ENSEMBL:ENSP00000362235.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WVV4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein POF1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVV4-1", "PR:Q8WVV4-1", "ENSEMBL:ENSP00000362238", "ENSEMBL:ENSP00000362238.3"], "information_content": 100.0}
{"id": "NCBIGene:139322", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOOL", "equivalent_identifiers": ["NCBIGene:139322", "ENSEMBL:ENSG00000155008", "HGNC:24009", "OMIM:300955", "UMLS:C1824094", "UniProtKB:Q6UXV4", "PR:Q6UXV4", "ENSEMBL:ENSP00000362268", "ENSEMBL:ENSP00000362268.2", "UMLS:C3710639", "MESH:C585262"], "information_content": 88.2}
{"id": "MONDO:0014025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lower motor neuron syndrome with late-adult onset", "equivalent_identifiers": ["MONDO:0014025", "DOID:0081356", "OMIM:615048", "orphanet:276435", "UMLS:C3554398", "medgen:767312", "icd11.foundation:1650555742"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z353-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "highly divergent homeobox isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z353-1", "PR:Q7Z353-1", "ENSEMBL:ENSP00000297977", "ENSEMBL:ENSP00000297977.5", "ENSEMBL:ENSP00000362272", "ENSEMBL:ENSP00000362272.2"], "information_content": 100.0}
{"id": "MONDO:0012729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythrocytosis, familial, 4", "equivalent_identifiers": ["MONDO:0012729", "DOID:0080339", "OMIM:611783", "UMLS:C2673187", "MESH:C567086", "medgen:435867"], "information_content": 100.0}
{"id": "NCBIGene:54936", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADPRS", "equivalent_identifiers": ["NCBIGene:54936", "ENSEMBL:ENSG00000116863", "HGNC:21304", "OMIM:610624", "UMLS:C1427481", "UniProtKB:B7ZAN4", "UMLS:C1702803", "MESH:C508145", "UniProtKB:Q9NX46", "PR:Q9NX46", "ENSEMBL:ENSP00000362273", "ENSEMBL:ENSP00000362273.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZD2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "equilibrative nucleoside transporter 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZD2-1", "PR:Q9BZD2-1", "ENSEMBL:ENSP00000362285", "ENSEMBL:ENSP00000362285.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9H9G7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein argonaute-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9G7-1", "PR:Q9H9G7-1", "ENSEMBL:ENSP00000362287", "ENSEMBL:ENSP00000362287.3"], "information_content": 100.0}
{"id": "NCBIGene:11122", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTPRT", "equivalent_identifiers": ["NCBIGene:11122", "ENSEMBL:ENSG00000196090", "HGNC:9682", "OMIM:608712", "UMLS:C1335289", "UniProtKB:A0A075B6H0", "ENSEMBL:ENSP00000362294", "ENSEMBL:ENSP00000362294.4", "UniProtKB:O14522", "PR:O14522", "UMLS:C0761615", "MESH:C516865"]}
{"id": "NCBIGene:8879", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SGPL1", "equivalent_identifiers": ["NCBIGene:8879", "ENSEMBL:ENSG00000166224", "HGNC:10817", "OMIM:603729", "UMLS:C1420014", "UniProtKB:A0A8V8TN35", "ENSEMBL:ENSP00000513480", "ENSEMBL:ENSP00000513480.1", "ENSEMBL:ENSP00000513481", "ENSEMBL:ENSP00000513481.1", "ENSEMBL:ENSP00000513484", "ENSEMBL:ENSP00000513484.1", "UMLS:C4549064", "MESH:C000623292", "UniProtKB:O95470", "PR:O95470", "ENSEMBL:ENSP00000362298", "ENSEMBL:ENSP00000362298.3", "ENSEMBL:ENSP00000513482", "ENSEMBL:ENSP00000513482.1", "ENSEMBL:ENSP00000513485", "ENSEMBL:ENSP00000513485.1", "ENSEMBL:ENSP00000513486", "ENSEMBL:ENSP00000513486.1", "UMLS:C3539829"], "information_content": 89.4}
{"id": "UniProtKB:P17813-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endoglin isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P17813-1", "PR:P17813-1", "ENSEMBL:ENSP00000362299", "ENSEMBL:ENSP00000362299.4"], "information_content": 100.0}
{"id": "MONDO:0008889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Buerger Disease", "equivalent_identifiers": ["MONDO:0008889", "DOID:12918", "OMIM:211480", "orphanet:36258", "EFO:1001211", "UMLS:C0040021", "MESH:D013919", "MEDDRA:10006538", "MEDDRA:10017722", "MEDDRA:10043540", "MEDDRA:10043541", "NCIT:C35070", "SNOMEDCT:195299000", "SNOMEDCT:52403007", "medgen:21531", "icd11.foundation:1000683110", "ICD10:I73.1", "ICD9:443.1"], "information_content": 100.0}
{"id": "NCBIGene:26523", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGO1", "equivalent_identifiers": ["NCBIGene:26523", "ENSEMBL:ENSG00000092847", "HGNC:3262", "OMIM:606228", "UMLS:C1414332", "UniProtKB:A0A6I8PTZ8", "ENSEMBL:ENSP00000501372", "ENSEMBL:ENSP00000501372.1", "UMLS:C1437033", "MESH:C115848", "UniProtKB:B2RAD8", "UniProtKB:B3KME0", "UniProtKB:Q5TA58", "ENSEMBL:ENSP00000362302", "ENSEMBL:ENSP00000362302.1", "UniProtKB:Q9UL18", "PR:Q9UL18", "ENSEMBL:ENSP00000362300", "ENSEMBL:ENSP00000362300.4", "UMLS:C2827476"], "information_content": 95.4}
{"id": "UniProtKB:Q8WXS8-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "a disintegrin and metalloproteinase with thrombospondin motifs 14 isoform D (human)", "equivalent_identifiers": ["UniProtKB:Q8WXS8-4", "PR:Q8WXS8-4", "ENSEMBL:ENSP00000362304", "ENSEMBL:ENSP00000362304.1"], "information_content": 100.0}
{"id": "NCBIGene:192670", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGO4", "equivalent_identifiers": ["NCBIGene:192670", "ENSEMBL:ENSG00000134698", "HGNC:18424", "OMIM:607356", "UMLS:C1425509", "UniProtKB:Q9HCK5", "PR:Q9HCK5", "ENSEMBL:ENSP00000362306", "ENSEMBL:ENSP00000362306.3", "UMLS:C1869140", "UMLS:C2827479", "MESH:C517144"], "information_content": 92.8}
{"id": "NCBIGene:6451", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SH3BGRL", "equivalent_identifiers": ["NCBIGene:6451", "ENSEMBL:ENSG00000131171", "HGNC:10823", "OMIM:300190", "UMLS:C1420020", "UniProtKB:O75368", "PR:O75368", "ENSEMBL:ENSP00000362308", "ENSEMBL:ENSP00000362308.5", "UMLS:C1308607", "MESH:C113099", "UniProtKB:V9HW48"], "information_content": 95.4}
{"id": "NCBIGene:1979", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF4EBP2", "equivalent_identifiers": ["NCBIGene:1979", "ENSEMBL:ENSG00000148730", "HGNC:3289", "OMIM:602224", "UMLS:C1414353", "UniProtKB:Q13542", "PR:Q13542", "ENSEMBL:ENSP00000362314", "ENSEMBL:ENSP00000362314.4", "UMLS:C1447520", "MESH:C104151"], "information_content": 95.4}
{"id": "UniProtKB:Q96T54-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium channel subfamily K member 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96T54-3", "PR:Q96T54-3", "ENSEMBL:ENSP00000362328", "ENSEMBL:ENSP00000362328.4"], "information_content": 100.0}
{"id": "NCBIGene:5464", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPA1", "equivalent_identifiers": ["NCBIGene:5464", "ENSEMBL:ENSG00000180817", "HGNC:9226", "OMIM:179030", "UMLS:C1826646", "UniProtKB:Q15181", "PR:Q15181", "ENSEMBL:ENSP00000362329", "ENSEMBL:ENSP00000362329.2", "UMLS:C5564871", "MESH:C000720791", "UniProtKB:V9HWB5"], "information_content": 90.9}
{"id": "UniProtKB:Q8TD26-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromodomain-helicase-DNA-binding protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TD26-1", "PR:Q8TD26-1", "ENSEMBL:ENSP00000362330", "ENSEMBL:ENSP00000362330.3"], "information_content": 100.0}
{"id": "NCBIGene:339488", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TFAP2E", "equivalent_identifiers": ["NCBIGene:339488", "ENSEMBL:ENSG00000116819", "HGNC:30774", "OMIM:614428", "UMLS:C1539952", "UniProtKB:Q6VUC0", "PR:Q6VUC0", "ENSEMBL:ENSP00000362332", "ENSEMBL:ENSP00000362332.3", "UMLS:C1529559", "MESH:C493680"], "information_content": 95.4}
{"id": "NCBIGene:5690", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMB2", "equivalent_identifiers": ["NCBIGene:5690", "ENSEMBL:ENSG00000126067", "HGNC:9539", "OMIM:602175", "UMLS:C1419012", "UniProtKB:A0A087WVV1", "ENSEMBL:ENSP00000479706", "ENSEMBL:ENSP00000479706.1", "UMLS:C3252174", "MESH:C561469", "UniProtKB:A0A140VJS6", "UniProtKB:B7Z478", "UniProtKB:P49721", "PR:P49721", "ENSEMBL:ENSP00000362334", "ENSEMBL:ENSP00000362334.3"], "information_content": 87.2}
{"id": "UniProtKB:Q9NR31-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small COPII coat GTPase SAR1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR31-1", "PR:Q9NR31-1", "ENSEMBL:ENSP00000362335", "ENSEMBL:ENSP00000362335.1", "ENSEMBL:ENSP00000362338", "ENSEMBL:ENSP00000362338.4", "ENSEMBL:ENSP00000362339", "ENSEMBL:ENSP00000362339.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBB6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurochondrin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBB6-1", "PR:Q9UBB6-1", "ENSEMBL:ENSP00000348394", "ENSEMBL:ENSP00000348394.4", "ENSEMBL:ENSP00000362340", "ENSEMBL:ENSP00000362340.2"], "information_content": 100.0}
{"id": "UniProtKB:Q05932-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "folylpolyglutamate synthase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q05932-1", "PR:Q05932-1", "ENSEMBL:ENSP00000362344", "ENSEMBL:ENSP00000362344.2"], "information_content": 95.4}
{"id": "NCBIGene:55506", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MACROH2A2", "equivalent_identifiers": ["NCBIGene:55506", "ENSEMBL:ENSG00000099284", "HGNC:14453", "OMIM:616141", "UMLS:C1422661", "UniProtKB:Q9P0M6", "PR:Q9P0M6", "ENSEMBL:ENSP00000362352", "ENSEMBL:ENSP00000362352.3", "ENSEMBL:ENSP00000503835", "ENSEMBL:ENSP00000503835.1", "UMLS:C1310018", "UMLS:C4722635", "MESH:C430886"], "information_content": 95.4}
{"id": "NCBIGene:2740", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLP1R", "equivalent_identifiers": ["NCBIGene:2740", "ENSEMBL:ENSG00000112164", "HGNC:4324", "OMIM:138032", "UMLS:C1415105", "UniProtKB:A0A142FHB8", "UniProtKB:P43220", "PR:P43220", "ENSEMBL:ENSP00000362353", "ENSEMBL:ENSP00000362353.4", "UMLS:C3658192", "MESH:C000593833"], "information_content": 92.8}
{"id": "UniProtKB:P50750-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50750-1", "PR:P50750-1", "ENSEMBL:ENSP00000362361", "ENSEMBL:ENSP00000362361.4"], "information_content": 92.8}
{"id": "UniProtKB:Q6RI45-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain and WD repeat-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6RI45-1", "PR:Q6RI45-1", "ENSEMBL:ENSP00000362372", "ENSEMBL:ENSP00000362372.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96D05-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM241B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96D05-1", "PR:Q96D05-1", "ENSEMBL:ENSP00000362376", "ENSEMBL:ENSP00000362376.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5JU69-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "torsin-2A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JU69-1", "PR:Q5JU69-1", "ENSEMBL:ENSP00000362381", "ENSEMBL:ENSP00000362381.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEE8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetratricopeptide repeat protein 16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEE8-1", "PR:Q8NEE8-1", "ENSEMBL:ENSP00000362386", "ENSEMBL:ENSP00000362386.3"], "information_content": 100.0}
{"id": "NCBIGene:23555", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPAN15", "equivalent_identifiers": ["NCBIGene:23555", "ENSEMBL:ENSG00000099282", "HGNC:23298", "OMIM:613140", "UMLS:C1540095", "UniProtKB:O95858", "PR:O95858", "ENSEMBL:ENSP00000362387", "ENSEMBL:ENSP00000362387.2", "UMLS:C3180301", "MESH:C556850"], "information_content": 92.8}
{"id": "MONDO:0002304", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "protein S deficiency", "equivalent_identifiers": ["MONDO:0002304", "DOID:2451", "UMLS:C0242666", "UMLS:C4025284", "MESH:D018455", "MEDDRA:10051292", "NCIT:C99026", "SNOMEDCT:1563006", "medgen:69229", "ICD10:D68.59", "HP:0004855"], "information_content": 90.9}
{"id": "MONDO:0019145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary thrombophilia due to congenital protein C deficiency", "equivalent_identifiers": ["MONDO:0019145", "DOID:3756", "orphanet:745", "EFO:0009316", "UMLS:C0398625", "UMLS:C0598221", "UMLS:C2930896", "MESH:C535424", "MESH:D020151", "MEDDRA:10051298", "NCIT:C99025", "SNOMEDCT:439274008", "SNOMEDCT:76407009", "medgen:671121", "icd11.foundation:2021932081", "HP:0005543"], "information_content": 92.8}
{"id": "UniProtKB:Q5JU67-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 157 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JU67-1", "PR:Q5JU67-1", "ENSEMBL:ENSP00000362392", "ENSEMBL:ENSP00000362392.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y458-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-box transcription factor TBX22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y458-1", "PR:Q9Y458-1", "ENSEMBL:ENSP00000362390", "ENSEMBL:ENSP00000362390.5", "ENSEMBL:ENSP00000362393", "ENSEMBL:ENSP00000362393.3", "ENSEMBL:ENSP00000479825", "ENSEMBL:ENSP00000479825.1", "ENSEMBL:ENSP00000487295", "ENSEMBL:ENSP00000487295.1"], "information_content": 100.0}
{"id": "UniProtKB:O43736-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integral membrane protein 2A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43736-1", "PR:O43736-1", "ENSEMBL:ENSP00000362395", "ENSEMBL:ENSP00000362395.2"], "information_content": 100.0}
{"id": "UniProtKB:P61764-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-binding protein 1 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P61764-2", "PR:P61764-2", "ENSEMBL:ENSP00000362399", "ENSEMBL:ENSP00000362399.3", "ENSEMBL:ENSP00000485397", "ENSEMBL:ENSP00000485397.2"], "information_content": 100.0}
{"id": "NCBIGene:10800", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYSLTR1", "equivalent_identifiers": ["NCBIGene:10800", "ENSEMBL:ENSG00000173198", "HGNC:17451", "OMIM:300201", "UMLS:C1424972", "UniProtKB:Q38Q88", "UMLS:C1432902", "UniProtKB:Q38Q91", "UniProtKB:Q9Y271", "PR:Q9Y271", "ENSEMBL:ENSP00000362401", "ENSEMBL:ENSP00000362401.3", "ENSEMBL:ENSP00000478492", "ENSEMBL:ENSP00000478492.1"], "information_content": 95.4}
{"id": "NCBIGene:6865", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TACR2", "equivalent_identifiers": ["NCBIGene:6865", "ENSEMBL:ENSG00000075073", "HGNC:11527", "OMIM:162321", "UMLS:C1420566", "UniProtKB:P21452", "PR:P21452", "ENSEMBL:ENSP00000362403", "ENSEMBL:ENSP00000362403.4"], "information_content": 100.0}
{"id": "NCBIGene:9935", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAFB", "equivalent_identifiers": ["NCBIGene:9935", "ENSEMBL:ENSG00000204103", "HGNC:6408", "OMIM:608968", "UMLS:C1416710", "UniProtKB:Q9Y5Q3", "PR:Q9Y5Q3", "ENSEMBL:ENSP00000362410", "ENSEMBL:ENSP00000362410.2", "UMLS:C1455445", "MESH:C490407"], "information_content": 95.4}
{"id": "UniProtKB:P00558-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoglycerate kinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P00558-1", "PR:P00558-1", "ENSEMBL:ENSP00000362413", "ENSEMBL:ENSP00000362413.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDR0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TRAF3-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDR0-1", "PR:Q8TDR0-1", "ENSEMBL:ENSP00000362424", "ENSEMBL:ENSP00000362424.4"], "information_content": 100.0}
{"id": "NCBIGene:100506144", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM35B", "equivalent_identifiers": ["NCBIGene:100506144", "ENSEMBL:ENSG00000243749", "HGNC:40021", "UMLS:C4321055", "UniProtKB:Q8NCS4", "PR:Q8NCS4", "ENSEMBL:ENSP00000362435", "ENSEMBL:ENSP00000362435.3"], "information_content": 95.4}
{"id": "UniProtKB:P46100-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcriptional regulator ATRX isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P46100-1", "PR:P46100-1", "ENSEMBL:ENSP00000362441", "ENSEMBL:ENSP00000362441.4"], "information_content": 100.0}
{"id": "NCBIGene:343578", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGAP40", "equivalent_identifiers": ["NCBIGene:343578", "ENSEMBL:ENSG00000124143", "HGNC:16226", "UMLS:C1424102", "UniProtKB:Q5TG30", "PR:Q5TG30", "ENSEMBL:ENSP00000362442", "ENSEMBL:ENSP00000362442.5"], "information_content": 95.4}
{"id": "NCBIGene:58512", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DLGAP3", "equivalent_identifiers": ["NCBIGene:58512", "ENSEMBL:ENSG00000116544", "HGNC:30368", "OMIM:611413", "UMLS:C1428966", "UniProtKB:O95886", "PR:O95886", "ENSEMBL:ENSP00000235180", "ENSEMBL:ENSP00000235180.4", "ENSEMBL:ENSP00000362444", "ENSEMBL:ENSP00000362444.1", "UMLS:C2742583", "MESH:C543515"], "information_content": 100.0}
{"id": "NCBIGene:7633", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF79", "equivalent_identifiers": ["NCBIGene:7633", "ENSEMBL:ENSG00000196152", "HGNC:13153", "OMIM:194552", "UMLS:C1421837", "UniProtKB:A0A087X2B0", "ENSEMBL:ENSP00000484833", "ENSEMBL:ENSP00000484833.1", "UniProtKB:B4DY65", "UniProtKB:B7ZAB8", "UniProtKB:F5H032", "ENSEMBL:ENSP00000438418", "ENSEMBL:ENSP00000438418.1", "ENSEMBL:ENSP00000478201", "ENSEMBL:ENSP00000478201.1", "UniProtKB:Q15937", "PR:Q15937", "ENSEMBL:ENSP00000362446", "ENSEMBL:ENSP00000362446.4"], "information_content": 92.8}
{"id": "NCBIGene:139599", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEE2", "equivalent_identifiers": ["NCBIGene:139599", "ENSEMBL:ENSG00000186675", "HGNC:24935", "OMIM:300760", "UMLS:C1537641", "UniProtKB:Q8TD90", "PR:Q8TD90", "ENSEMBL:ENSP00000362457", "ENSEMBL:ENSP00000362457.2"], "information_content": 100.0}
{"id": "UniProtKB:Q04760-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lactoylglutathione lyase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q04760-1", "PR:Q04760-1", "ENSEMBL:ENSP00000362463", "ENSEMBL:ENSP00000362463.3"], "information_content": 100.0}
{"id": "NCBIGene:2707", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJB3", "equivalent_identifiers": ["NCBIGene:2707", "ENSEMBL:ENSG00000188910", "HGNC:4285", "OMIM:603324", "UMLS:C1415078", "UniProtKB:O75712", "PR:O75712", "ENSEMBL:ENSP00000362460", "ENSEMBL:ENSP00000362460.3", "ENSEMBL:ENSP00000362464", "ENSEMBL:ENSP00000362464.2", "UMLS:C1384537", "MESH:C068044"], "information_content": 95.4}
{"id": "UniProtKB:Q96MV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyltransferase ZDHHC15 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MV8-1", "PR:Q96MV8-1", "ENSEMBL:ENSP00000362465", "ENSEMBL:ENSP00000362465.3"], "information_content": 100.0}
{"id": "MONDO:0010544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 40", "equivalent_identifiers": ["MONDO:0010544", "DOID:0110272", "OMIM:302200", "UMLS:C2930878", "UMLS:C4049004", "UMLS:C4049005", "MESH:C535338", "medgen:886621"], "information_content": 100.0}
{"id": "NCBIGene:29988", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC2A8", "equivalent_identifiers": ["NCBIGene:29988", "ENSEMBL:ENSG00000136856", "HGNC:13812", "OMIM:605245", "UMLS:C1422207", "UniProtKB:A0A087WT42", "ENSEMBL:ENSP00000477568", "ENSEMBL:ENSP00000477568.1", "UMLS:C1438820", "MESH:C405325", "UniProtKB:Q5VVV9", "ENSEMBL:ENSP00000362458", "ENSEMBL:ENSP00000362458.3", "UniProtKB:Q8WZ05", "UniProtKB:Q9NY64", "PR:Q9NY64", "ENSEMBL:ENSP00000362469", "ENSEMBL:ENSP00000362469.3"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z408-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CUB and sushi domain-containing protein 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z408-4", "PR:Q7Z408-4", "ENSEMBL:ENSP00000362479", "ENSEMBL:ENSP00000362479.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96BW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uracil phosphoribosyltransferase homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BW1-1", "PR:Q96BW1-1", "ENSEMBL:ENSP00000362481", "ENSEMBL:ENSP00000362481.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5VVW2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTPase-activating Rap/Ran-GAP domain-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VVW2-1", "PR:Q5VVW2-1", "ENSEMBL:ENSP00000362485", "ENSEMBL:ENSP00000362485.4"], "information_content": 100.0}
{"id": "MONDO:0008119", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 1", "equivalent_identifiers": ["MONDO:0008119", "DOID:0050954", "OMIM:164400", "orphanet:98755", "UMLS:C0752120", "NCIT:C129982", "SNOMEDCT:715748006", "medgen:155703", "icd11.foundation:2071487961"], "information_content": 100.0}
{"id": "UniProtKB:P22310-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 1A4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P22310-1", "PR:P22310-1", "ENSEMBL:ENSP00000362508", "ENSEMBL:ENSP00000362508.4"], "information_content": 100.0}
{"id": "UniProtKB:P35504-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 1A5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35504-1", "PR:P35504-1", "ENSEMBL:ENSP00000362513", "ENSEMBL:ENSP00000362513.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "angiopoietin-related protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKU9-1", "PR:Q9UKU9-1", "ENSEMBL:ENSP00000362524", "ENSEMBL:ENSP00000362524.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAW7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 1A7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAW7-1", "PR:Q9HAW7-1", "ENSEMBL:ENSP00000362525", "ENSEMBL:ENSP00000362525.3"], "information_content": 100.0}
{"id": "NCBIGene:58490", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPRD1B", "equivalent_identifiers": ["NCBIGene:58490", "ENSEMBL:ENSG00000101413", "HGNC:16209", "OMIM:614694", "UMLS:C1424086", "UniProtKB:Q9NQG5", "PR:Q9NQG5", "ENSEMBL:ENSP00000362532", "ENSEMBL:ENSP00000362532.4", "UMLS:C3491340", "MESH:C571225"], "information_content": 92.8}
{"id": "UniProtKB:Q96A70-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "antizyme inhibitor 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96A70-2", "PR:Q96A70-2", "ENSEMBL:ENSP00000362540", "ENSEMBL:ENSP00000362540.1"], "information_content": 100.0}
{"id": "NCBIGene:9675", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTI1", "equivalent_identifiers": ["NCBIGene:9675", "ENSEMBL:ENSG00000101407", "HGNC:29029", "OMIM:614425", "UMLS:C3146829", "UniProtKB:O43156", "PR:O43156", "ENSEMBL:ENSP00000362546", "ENSEMBL:ENSP00000362546.3", "ENSEMBL:ENSP00000362547", "ENSEMBL:ENSP00000362547.2", "ENSEMBL:ENSP00000407270", "ENSEMBL:ENSP00000407270.1"], "information_content": 86.3}
{"id": "UniProtKB:Q9HAW9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 1A8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAW9-1", "PR:Q9HAW9-1", "ENSEMBL:ENSP00000362549", "ENSEMBL:ENSP00000362549.4"], "information_content": 100.0}
{"id": "NCBIGene:23070", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CMTR1", "equivalent_identifiers": ["NCBIGene:23070", "ENSEMBL:ENSG00000137200", "HGNC:21077", "OMIM:616189", "UMLS:C2681538", "UniProtKB:Q8N1G2", "PR:Q8N1G2", "ENSEMBL:ENSP00000362550", "ENSEMBL:ENSP00000362550.4", "UMLS:C2355191", "MESH:C530219"], "information_content": 89.4}
{"id": "UniProtKB:Q96N03-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-set and transmembrane domain-containing protein 2-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96N03-1", "PR:Q96N03-1", "ENSEMBL:ENSP00000362560", "ENSEMBL:ENSP00000362560.4"], "information_content": 100.0}
{"id": "NCBIGene:23099", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB43", "equivalent_identifiers": ["NCBIGene:23099", "ENSEMBL:ENSG00000169155", "HGNC:17908", "OMIM:618676", "UMLS:C1823909", "UniProtKB:O43298", "PR:O43298", "ENSEMBL:ENSP00000362556", "ENSEMBL:ENSP00000362556.1", "ENSEMBL:ENSP00000362563", "ENSEMBL:ENSP00000362563.4", "ENSEMBL:ENSP00000390344", "ENSEMBL:ENSP00000390344.1"], "information_content": 88.2}
{"id": "NCBIGene:3208", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HPCA", "equivalent_identifiers": ["NCBIGene:3208", "ENSEMBL:ENSG00000121905", "HGNC:5144", "OMIM:142622", "UMLS:C1333924", "UniProtKB:P84074", "PR:P84074", "ENSEMBL:ENSP00000362566", "ENSEMBL:ENSP00000362566.3", "UMLS:C1505568", "MESH:C496691"], "information_content": 95.4}
{"id": "NCBIGene:252995", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FNDC5", "equivalent_identifiers": ["NCBIGene:252995", "ENSEMBL:ENSG00000160097", "HGNC:20240", "OMIM:611906", "UMLS:C1426803", "UniProtKB:A0A0A0MRR6", "ENSEMBL:ENSP00000362570", "ENSEMBL:ENSP00000362570.5", "UniProtKB:Q8NAU1", "PR:Q8NAU1", "UMLS:C3658155", "UMLS:C4761679", "UMLS:C4761705", "MESH:C577593"]}
{"id": "NCBIGene:8565", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YARS1", "equivalent_identifiers": ["NCBIGene:8565", "ENSEMBL:ENSG00000134684", "HGNC:12840", "OMIM:603623", "UMLS:C1337037", "UniProtKB:A0A0S2Z4R1", "UniProtKB:P54577", "PR:P54577", "ENSEMBL:ENSP00000362576", "ENSEMBL:ENSP00000362576.4", "UMLS:C5441736"], "information_content": 92.8}
{"id": "UniProtKB:O76064-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O76064-1", "PR:O76064-1", "ENSEMBL:ENSP00000362578", "ENSEMBL:ENSP00000362578.4"], "information_content": 100.0}
{"id": "UniProtKB:P40426-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pre-B-cell leukemia transcription factor 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P40426-1", "PR:P40426-1", "ENSEMBL:ENSP00000362588", "ENSEMBL:ENSP00000362588.5"], "information_content": 100.0}
{"id": "UniProtKB:Q09028-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-binding protein RBBP4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q09028-1", "PR:Q09028-1", "ENSEMBL:ENSP00000362592", "ENSEMBL:ENSP00000362592.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5VXU3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine-rich hydrophobic domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VXU3-1", "PR:Q5VXU3-1", "ENSEMBL:ENSP00000362601", "ENSEMBL:ENSP00000362601.5"], "information_content": 100.0}
{"id": "UniProtKB:P11309-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase pim-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11309-1", "PR:P11309-1", "ENSEMBL:ENSP00000362608", "ENSEMBL:ENSP00000362608.5"], "information_content": 100.0}
{"id": "NCBIGene:1046", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDX4", "equivalent_identifiers": ["NCBIGene:1046", "ENSEMBL:ENSG00000131264", "HGNC:1808", "OMIM:300025", "UMLS:C1413302", "UniProtKB:O14627", "PR:O14627", "ENSEMBL:ENSP00000362613", "ENSEMBL:ENSP00000362613.1", "UMLS:C3657741", "UMLS:C4288957", "MESH:C579354"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULW6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleosome assembly protein 1-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULW6-1", "PR:Q9ULW6-1", "ENSEMBL:ENSP00000362616", "ENSEMBL:ENSP00000362616.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5JQF8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PAP1M_HUMAN Polyadenylate-binding protein 1-like 2 (sprot)", "equivalent_identifiers": ["UniProtKB:Q5JQF8", "PR:Q5JQF8", "ENSEMBL:ENSP00000362618", "ENSEMBL:ENSP00000362618.1", "ENSEMBL:ENSP00000362621", "ENSEMBL:ENSP00000362621.3"], "information_content": 100.0}
{"id": "NCBIGene:81629", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSSK3", "equivalent_identifiers": ["NCBIGene:81629", "ENSEMBL:ENSG00000162526", "HGNC:15473", "OMIM:607660", "UMLS:C1540104", "UniProtKB:Q96PN8", "PR:Q96PN8", "ENSEMBL:ENSP00000362634", "ENSEMBL:ENSP00000362634.3", "UMLS:C1668331", "MESH:C507394"], "information_content": 95.4}
{"id": "NCBIGene:65108", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MARCKSL1", "equivalent_identifiers": ["NCBIGene:65108", "ENSEMBL:ENSG00000175130", "HGNC:7142", "OMIM:602940", "UMLS:C1537665", "UniProtKB:P49006", "PR:P49006", "ENSEMBL:ENSP00000362638", "ENSEMBL:ENSP00000362638.4", "UMLS:C1690412", "MESH:C070177"], "information_content": 92.8}
{"id": "UniProtKB:Q7Z6M1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab9 effector protein with kelch motifs isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6M1-1", "PR:Q7Z6M1-1", "ENSEMBL:ENSP00000362639", "ENSEMBL:ENSP00000362639.3", "ENSEMBL:ENSP00000377683", "ENSEMBL:ENSP00000377683.4"], "information_content": 100.0}
{"id": "UniProtKB:P46020-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P46020-1", "PR:P46020-1", "ENSEMBL:ENSP00000362643", "ENSEMBL:ENSP00000362643.4"], "information_content": 100.0}
{"id": "NCBIGene:3065", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HDAC1", "equivalent_identifiers": ["NCBIGene:3065", "ENSEMBL:ENSG00000116478", "HGNC:4852", "OMIM:601241", "UMLS:C1333891", "UniProtKB:Q13547", "PR:Q13547", "ENSEMBL:ENSP00000362649", "ENSEMBL:ENSP00000362649.3", "UMLS:C1334032", "MESH:C110550", "UniProtKB:Q6IT96"], "information_content": 88.2}
{"id": "UniProtKB:Q8N9R8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SCAI isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9R8-2", "PR:Q8N9R8-2", "ENSEMBL:ENSP00000362650", "ENSEMBL:ENSP00000362650.4"], "information_content": 100.0}
{"id": "NCBIGene:2800", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOLGA1", "equivalent_identifiers": ["NCBIGene:2800", "ENSEMBL:ENSG00000136935", "HGNC:4424", "OMIM:602502", "UMLS:C1415173", "UniProtKB:Q92805", "PR:Q92805", "ENSEMBL:ENSP00000362656", "ENSEMBL:ENSP00000362656.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BY41-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone deacetylase 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY41-1", "PR:Q9BY41-1", "ENSEMBL:ENSP00000362674", "ENSEMBL:ENSP00000362674.3"], "information_content": 100.0}
{"id": "UniProtKB:P12931-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proto-oncogene tyrosine-protein kinase Src isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P12931-1", "PR:P12931-1", "ENSEMBL:ENSP00000362668", "ENSEMBL:ENSP00000362668.2", "ENSEMBL:ENSP00000362680", "ENSEMBL:ENSP00000362680.2", "ENSEMBL:ENSP00000508666", "ENSEMBL:ENSP00000508666.1", "ENSEMBL:ENSP00000509325", "ENSEMBL:ENSP00000509325.1", "ENSEMBL:ENSP00000517666", "ENSEMBL:ENSP00000517666.1", "ENSEMBL:ENSP00000517668", "ENSEMBL:ENSP00000517668.1", "ENSEMBL:ENSP00000517669", "ENSEMBL:ENSP00000517669.1", "ENSEMBL:ENSP00000517670", "ENSEMBL:ENSP00000517670.1"], "information_content": 92.8}
{"id": "NCBIGene:79009", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX50", "equivalent_identifiers": ["NCBIGene:79009", "ENSEMBL:ENSG00000107625", "HGNC:17906", "OMIM:610373", "UMLS:C1425165", "UniProtKB:Q9BQ39", "PR:Q9BQ39", "ENSEMBL:ENSP00000362687", "ENSEMBL:ENSP00000362687.3", "UMLS:C1448269", "MESH:C448980"], "information_content": 95.4}
{"id": "UniProtKB:A0A7P0MRT9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A7P0MRT9_HUMAN Eukaryotic translation initiation factor 3 subunit I (trembl)", "equivalent_identifiers": ["UniProtKB:A0A7P0MRT9", "ENSEMBL:ENSP00000362688", "ENSEMBL:ENSP00000362688.2"]}
{"id": "NCBIGene:2516", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NR5A1", "equivalent_identifiers": ["NCBIGene:2516", "ENSEMBL:ENSG00000136931", "HGNC:7983", "OMIM:184757", "UMLS:C1417838", "UniProtKB:F1D8R8", "UniProtKB:Q13285", "PR:Q13285", "ENSEMBL:ENSP00000362690", "ENSEMBL:ENSP00000362690.4", "UMLS:C1569965", "MESH:C515057"], "information_content": 90.9}
{"id": "UniProtKB:Q9HC98-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Nek6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9HC98-2", "PR:Q9HC98-2", "ENSEMBL:ENSP00000362702", "ENSEMBL:ENSP00000362702.3", "ENSEMBL:ENSP00000377749", "ENSEMBL:ENSP00000377749.2"], "information_content": 100.0}
{"id": "NCBIGene:63905", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MANBAL", "equivalent_identifiers": ["NCBIGene:63905", "ENSEMBL:ENSG00000101363", "HGNC:15799", "UMLS:C1423737", "UniProtKB:A2A2E0", "ENSEMBL:ENSP00000380337", "ENSEMBL:ENSP00000380337.1", "ENSEMBL:ENSP00000517662", "ENSEMBL:ENSP00000517662.1", "UniProtKB:Q9NQG1", "PR:Q9NQG1", "ENSEMBL:ENSP00000362707", "ENSEMBL:ENSP00000362707.3", "ENSEMBL:ENSP00000362708", "ENSEMBL:ENSP00000362708.3", "ENSEMBL:ENSP00000380338", "ENSEMBL:ENSP00000380338.1", "ENSEMBL:ENSP00000380339", "ENSEMBL:ENSP00000380339.3", "ENSEMBL:ENSP00000517661", "ENSEMBL:ENSP00000517661.1", "ENSEMBL:ENSP00000517663", "ENSEMBL:ENSP00000517663.1", "ENSEMBL:ENSP00000517664", "ENSEMBL:ENSP00000517664.1", "ENSEMBL:ENSP00000517665", "ENSEMBL:ENSP00000517665.1"], "information_content": 100.0}
{"id": "NCBIGene:200081", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TXLNA", "equivalent_identifiers": ["NCBIGene:200081", "ENSEMBL:ENSG00000084652", "HGNC:30685", "OMIM:608676", "UMLS:C1823557", "UniProtKB:P40222", "PR:P40222", "ENSEMBL:ENSP00000362711", "ENSEMBL:ENSP00000362711.1", "ENSEMBL:ENSP00000362712", "ENSEMBL:ENSP00000362712.3", "UMLS:C1454607", "UMLS:C2698064", "MESH:C488100"], "information_content": 81.7}
{"id": "UniProtKB:P01286-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "somatoliberin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P01286-1", "PR:P01286-1", "ENSEMBL:ENSP00000362716", "ENSEMBL:ENSP00000362716.2", "ENSEMBL:ENSP00000517673", "ENSEMBL:ENSP00000517673.1"], "information_content": 100.0}
{"id": "NCBIGene:9355", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LHX2", "equivalent_identifiers": ["NCBIGene:9355", "ENSEMBL:ENSG00000106689", "HGNC:6594", "OMIM:603759", "UMLS:C1334338", "UniProtKB:B3KNJ5", "UniProtKB:P50458", "PR:P50458", "ENSEMBL:ENSP00000362717", "ENSEMBL:ENSP00000362717.4", "UMLS:C0527482", "MESH:C489783"], "information_content": 95.4}
{"id": "UniProtKB:Q8TEH3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DENN domain-containing protein 1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEH3-1", "PR:Q8TEH3-1", "ENSEMBL:ENSP00000362727", "ENSEMBL:ENSP00000362727.2"], "information_content": 100.0}
{"id": "NCBIGene:23633", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KPNA6", "equivalent_identifiers": ["NCBIGene:23633", "ENSEMBL:ENSG00000025800", "HGNC:6399", "OMIM:610563", "UMLS:C1416704", "UniProtKB:O60684", "PR:O60684", "ENSEMBL:ENSP00000362728", "ENSEMBL:ENSP00000362728.3", "UMLS:C1530691", "MESH:C494630"], "information_content": 90.9}
{"id": "UniProtKB:Q9NZJ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial carrier homolog 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZJ7-1", "PR:Q9NZJ7-1", "ENSEMBL:ENSP00000362730", "ENSEMBL:ENSP00000362730.5"], "information_content": 100.0}
{"id": "MONDO:0016243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemoglobin E disease", "equivalent_identifiers": ["MONDO:0016243", "DOID:5379", "orphanet:2133", "UMLS:C0238159", "MEDDRA:10053215", "MEDDRA:10053224", "MEDDRA:10055597", "MEDDRA:10055613", "NCIT:C35287", "SNOMEDCT:25065001", "medgen:68658", "icd11.foundation:1898135714"], "information_content": 100.0}
{"id": "UniProtKB:Q5IJ48-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein crumbs homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5IJ48-1", "PR:Q5IJ48-1", "ENSEMBL:ENSP00000362734", "ENSEMBL:ENSP00000362734.3"], "information_content": 100.0}
{"id": "NCBIGene:6191", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS4X", "equivalent_identifiers": ["NCBIGene:6191", "ENSEMBL:ENSG00000198034", "HGNC:10424", "OMIM:312760", "UMLS:C1419736", "UniProtKB:B2R491", "UniProtKB:P62701", "PR:P62701", "ENSEMBL:ENSP00000362744", "ENSEMBL:ENSP00000362744.4"], "information_content": 87.2}
{"id": "UniProtKB:Q8NFU7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methylcytosine dioxygenase TET1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFU7-1", "PR:Q8NFU7-1", "ENSEMBL:ENSP00000362748", "ENSEMBL:ENSP00000362748.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3P9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab GTPase-activating protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3P9-1", "PR:Q9Y3P9-1", "ENSEMBL:ENSP00000362751", "ENSEMBL:ENSP00000362751.4"], "information_content": 100.0}
{"id": "UniProtKB:O60241-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G protein-coupled receptor B2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60241-2", "PR:O60241-2", "ENSEMBL:ENSP00000362759", "ENSEMBL:ENSP00000362759.2"], "information_content": 100.0}
{"id": "NCBIGene:10773", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB6", "equivalent_identifiers": ["NCBIGene:10773", "ENSEMBL:ENSG00000186130", "HGNC:16764", "OMIM:605976", "UMLS:C1823901", "UniProtKB:Q15916", "PR:Q15916", "ENSEMBL:ENSP00000362763", "ENSEMBL:ENSP00000362763.3", "UMLS:C1437876", "MESH:C090212"], "information_content": 100.0}
{"id": "UniProtKB:P28749-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinoblastoma-like protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P28749-1", "PR:P28749-1", "ENSEMBL:ENSP00000362768", "ENSEMBL:ENSP00000362768.3"], "information_content": 95.4}
{"id": "MONDO:0001169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic monoplegia", "equivalent_identifiers": ["MONDO:0001169", "DOID:10968", "UMLS:C0154698", "MEDDRA:10021743", "MEDDRA:10027936", "medgen:57593", "ICD9:343.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9HBD1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "roquin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBD1-1", "PR:Q9HBD1-1", "ENSEMBL:ENSP00000349783", "ENSEMBL:ENSP00000349783.2", "ENSEMBL:ENSP00000362774", "ENSEMBL:ENSP00000362774.1"], "information_content": 100.0}
{"id": "MONDO:0014859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 37", "equivalent_identifiers": ["MONDO:0014859", "DOID:0080435", "OMIM:616981", "UMLS:C4310770", "medgen:934737"], "information_content": 100.0}
{"id": "UniProtKB:Q07092-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XVI) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q07092-1", "PR:Q07092-1", "ENSEMBL:ENSP00000362776", "ENSEMBL:ENSP00000362776.3"], "information_content": 100.0}
{"id": "NCBIGene:220202", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATOH7", "equivalent_identifiers": ["NCBIGene:220202", "ENSEMBL:ENSG00000179774", "HGNC:13907", "OMIM:609875", "UMLS:C1422261", "UniProtKB:F1T0H4", "UMLS:C1310502", "MESH:C456975", "UniProtKB:Q8N100", "PR:Q8N100", "ENSEMBL:ENSP00000362777", "ENSEMBL:ENSP00000362777.3"], "information_content": 100.0}
{"id": "UniProtKB:P49682-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-X-C chemokine receptor type 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P49682-2", "PR:P49682-2", "ENSEMBL:ENSP00000362795", "ENSEMBL:ENSP00000362795.4"], "information_content": 100.0}
{"id": "NCBIGene:93953", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GCNA", "equivalent_identifiers": ["NCBIGene:93953", "ENSEMBL:ENSG00000147174", "HGNC:15805", "OMIM:300369", "UMLS:C1423743", "UniProtKB:Q96QF7", "PR:Q96QF7", "ENSEMBL:ENSP00000362799", "ENSEMBL:ENSP00000362799.1", "ENSEMBL:ENSP00000362800", "ENSEMBL:ENSP00000362800.3", "UMLS:C1122018", "MESH:C452982"], "information_content": 100.0}
{"id": "NCBIGene:553115", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PEF1", "equivalent_identifiers": ["NCBIGene:553115", "ENSEMBL:ENSG00000162517", "HGNC:30009", "OMIM:610033", "UMLS:C1864891", "UniProtKB:A0A384MQX5", "UMLS:C0909527", "MESH:C121810", "UniProtKB:Q9UBV8", "PR:Q9UBV8", "ENSEMBL:ENSP00000362807", "ENSEMBL:ENSP00000362807.4"], "information_content": 90.9}
{"id": "UniProtKB:Q96SA4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine incorporator 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96SA4-4", "PR:Q96SA4-4", "ENSEMBL:ENSP00000362814", "ENSEMBL:ENSP00000362814.1"], "information_content": 100.0}
{"id": "NCBIGene:2170", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FABP3", "equivalent_identifiers": ["NCBIGene:2170", "ENSEMBL:ENSG00000121769", "HGNC:3557", "OMIM:134651", "UMLS:C1333526", "UniProtKB:A0A384MDY5", "UniProtKB:P05413", "PR:P05413", "ENSEMBL:ENSP00000362817", "ENSEMBL:ENSP00000362817.2", "UMLS:C1312696", "MESH:C493408"], "information_content": 92.8}
{"id": "UniProtKB:P84103-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/arginine-rich splicing factor 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P84103-1", "PR:P84103-1", "ENSEMBL:ENSP00000362820", "ENSEMBL:ENSP00000362820.5", "ENSEMBL:ENSP00000482833", "ENSEMBL:ENSP00000482833.1"], "information_content": 100.0}
{"id": "UniProtKB:O15294-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:O15294-1", "PR:O15294-1", "ENSEMBL:ENSP00000362824", "ENSEMBL:ENSP00000362824.3"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z5Y7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein KCTD20 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5Y7-1", "PR:Q7Z5Y7-1", "ENSEMBL:ENSP00000362836", "ENSEMBL:ENSP00000362836.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5VZ52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MORN repeat-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VZ52-1", "PR:Q5VZ52-1", "ENSEMBL:ENSP00000362869", "ENSEMBL:ENSP00000362869.3"], "information_content": 100.0}
{"id": "NCBIGene:4146", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MATN1", "equivalent_identifiers": ["NCBIGene:4146", "ENSEMBL:ENSG00000162510", "HGNC:6907", "OMIM:115437", "UMLS:C1417041", "UniProtKB:P21941", "PR:P21941", "ENSEMBL:ENSP00000362870", "ENSEMBL:ENSP00000362870.4", "UMLS:C3711595", "MESH:C577539"], "information_content": 92.8}
{"id": "NCBIGene:4702", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFA8", "equivalent_identifiers": ["NCBIGene:4702", "ENSEMBL:ENSG00000119421", "HGNC:7692", "OMIM:603359", "UMLS:C1417629", "UniProtKB:B7Z768", "UMLS:C0761501", "MESH:C116384", "UniProtKB:P51970", "PR:P51970", "ENSEMBL:ENSP00000362873", "ENSEMBL:ENSP00000362873.3"], "information_content": 87.2}
{"id": "NCBIGene:84890", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADO", "equivalent_identifiers": ["NCBIGene:84890", "ENSEMBL:ENSG00000181915", "HGNC:23506", "OMIM:611392", "UMLS:C1428110", "UniProtKB:B3KXN9", "UniProtKB:Q96SZ5", "PR:Q96SZ5", "ENSEMBL:ENSP00000362888", "ENSEMBL:ENSP00000362888.1"], "information_content": 95.4}
{"id": "UniProtKB:Q8IZC4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rhotekin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZC4-1", "PR:Q8IZC4-1", "ENSEMBL:ENSP00000362894", "ENSEMBL:ENSP00000362894.3"], "information_content": 100.0}
{"id": "NCBIGene:6429", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRSF4", "equivalent_identifiers": ["NCBIGene:6429", "ENSEMBL:ENSG00000116350", "HGNC:10786", "OMIM:601940", "UMLS:C1419995", "UniProtKB:Q08170", "PR:Q08170", "ENSEMBL:ENSP00000362900", "ENSEMBL:ENSP00000362900.4", "UMLS:C0659791", "MESH:C081934"], "information_content": 100.0}
{"id": "UniProtKB:P06396-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gelsolin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P06396-1", "PR:P06396-1", "ENSEMBL:ENSP00000362924", "ENSEMBL:ENSP00000362924.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96SB4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SRSF protein kinase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96SB4-2", "PR:Q96SB4-2", "ENSEMBL:ENSP00000362931", "ENSEMBL:ENSP00000362931.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKP3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin beta-1-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKP3-1", "PR:Q9UKP3-1", "ENSEMBL:ENSP00000362935", "ENSEMBL:ENSP00000362935.3"], "information_content": 100.0}
{"id": "MONDO:0010501", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability 34", "equivalent_identifiers": ["MONDO:0010501", "DOID:0060817", "OMIM:300967", "orphanet:466791", "UMLS:C4225417", "medgen:902184"], "information_content": 100.0}
{"id": "UniProtKB:Q9NX07-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA selenocysteine 1-associated protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NX07-1", "PR:Q9NX07-1", "ENSEMBL:ENSP00000362936", "ENSEMBL:ENSP00000362936.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZ21-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatase and actin regulator 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZ21-2", "PR:Q8IZ21-2", "ENSEMBL:ENSP00000362942", "ENSEMBL:ENSP00000362942.3"], "information_content": 100.0}
{"id": "MONDO:0012571", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 6", "equivalent_identifiers": ["MONDO:0012571", "DOID:0110606", "OMIM:610852", "UMLS:C1970506", "MESH:C567057", "medgen:370930"], "information_content": 100.0}
{"id": "NCBIGene:51552", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB14", "equivalent_identifiers": ["NCBIGene:51552", "ENSEMBL:ENSG00000119396", "HGNC:16524", "OMIM:612673", "UMLS:C1424352", "UniProtKB:P61106", "PR:P61106", "ENSEMBL:ENSP00000362946", "ENSEMBL:ENSP00000362946.4", "ENSEMBL:ENSP00000515613", "ENSEMBL:ENSP00000515613.1", "ENSEMBL:ENSP00000515614", "ENSEMBL:ENSP00000515614.1"], "information_content": 86.3}
{"id": "NCBIGene:54797", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MED18", "equivalent_identifiers": ["NCBIGene:54797", "ENSEMBL:ENSG00000130772", "HGNC:25944", "OMIM:612384", "UMLS:C1537679", "UniProtKB:Q9BUE0", "PR:Q9BUE0", "ENSEMBL:ENSP00000362948", "ENSEMBL:ENSP00000362948.4", "ENSEMBL:ENSP00000381963", "ENSEMBL:ENSP00000381963.2", "ENSEMBL:ENSP00000494048", "ENSEMBL:ENSP00000494048.1", "ENSEMBL:ENSP00000494184", "ENSEMBL:ENSP00000494184.1", "UMLS:C4042733", "MESH:C000594771"], "information_content": 83.6}
{"id": "UniProtKB:Q7Z7A1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centriolin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z7A1-1", "PR:Q7Z7A1-1", "ENSEMBL:ENSP00000362962", "ENSEMBL:ENSP00000362962.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99504-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase EYA3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99504-1", "PR:Q99504-1", "ENSEMBL:ENSP00000362978", "ENSEMBL:ENSP00000362978.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZN2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein TGIF2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZN2-1", "PR:Q9GZN2-1", "ENSEMBL:ENSP00000362979", "ENSEMBL:ENSP00000362979.3", "ENSEMBL:ENSP00000362981", "ENSEMBL:ENSP00000362981.2", "ENSEMBL:ENSP00000453773", "ENSEMBL:ENSP00000453773.1", "ENSEMBL:ENSP00000481787", "ENSEMBL:ENSP00000481787.1", "ENSEMBL:ENSP00000498657", "ENSEMBL:ENSP00000498657.1"], "information_content": 100.0}
{"id": "NCBIGene:55113", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XKR8", "equivalent_identifiers": ["NCBIGene:55113", "ENSEMBL:ENSG00000158156", "HGNC:25508", "OMIM:619940", "UMLS:C1823875", "UniProtKB:A0A6Q8PH47", "ENSEMBL:ENSP00000502552", "ENSEMBL:ENSP00000502552.1", "ENSEMBL:ENSP00000502569", "ENSEMBL:ENSP00000502569.1", "UniProtKB:Q9H6D3", "PR:Q9H6D3", "ENSEMBL:ENSP00000362991", "ENSEMBL:ENSP00000362991.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9H694-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein bicaudal C homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H694-1", "PR:Q9H694-1", "ENSEMBL:ENSP00000362993", "ENSEMBL:ENSP00000362993.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13077-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TNF receptor-associated factor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13077-1", "PR:Q13077-1", "ENSEMBL:ENSP00000362994", "ENSEMBL:ENSP00000362994.3", "ENSEMBL:ENSP00000443183", "ENSEMBL:ENSP00000443183.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92485-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acid sphingomyelinase-like phosphodiesterase 3b isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92485-1", "PR:Q92485-1", "ENSEMBL:ENSP00000363001", "ENSEMBL:ENSP00000363001.3"], "information_content": 100.0}
{"id": "UniProtKB:P15927-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "replication protein A 32 kDa subunit isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P15927-2", "PR:P15927-2", "ENSEMBL:ENSP00000363017", "ENSEMBL:ENSP00000363017.3"], "information_content": 100.0}
{"id": "NCBIGene:4736", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL10A", "equivalent_identifiers": ["NCBIGene:4736", "ENSEMBL:ENSG00000198755", "HGNC:10299", "OMIM:615660", "UMLS:C1419626", "UniProtKB:P62906", "PR:P62906", "ENSEMBL:ENSP00000363018", "ENSEMBL:ENSP00000363018.3"], "information_content": 86.3}
{"id": "NCBIGene:7321", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2D1", "equivalent_identifiers": ["NCBIGene:7321", "ENSEMBL:ENSG00000072401", "HGNC:12474", "OMIM:602961", "UMLS:C1421273", "UniProtKB:A0A087WW00", "ENSEMBL:ENSP00000479814", "ENSEMBL:ENSP00000479814.1", "UMLS:C1307636", "MESH:C097308", "UniProtKB:P51668", "PR:P51668", "ENSEMBL:ENSP00000363019", "ENSEMBL:ENSP00000363019.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y2H0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disks large-associated protein 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2H0-1", "PR:Q9Y2H0-1", "ENSEMBL:ENSP00000363023", "ENSEMBL:ENSP00000363023.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5TEJ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein THEMIS2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TEJ8-1", "PR:Q5TEJ8-1", "ENSEMBL:ENSP00000363031", "ENSEMBL:ENSP00000363031.3"], "information_content": 100.0}
{"id": "NCBIGene:1955", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MEGF9", "equivalent_identifiers": ["NCBIGene:1955", "ENSEMBL:ENSG00000106780", "HGNC:3234", "OMIM:604268", "UMLS:C1825963", "UniProtKB:Q9H1U4", "PR:Q9H1U4", "ENSEMBL:ENSP00000363040", "ENSEMBL:ENSP00000363040.3", "UMLS:C1869170", "MESH:C516165"], "information_content": 84.8}
{"id": "NCBIGene:55847", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CISD1", "equivalent_identifiers": ["NCBIGene:55847", "ENSEMBL:ENSG00000122873", "HGNC:30880", "OMIM:611932", "UMLS:C1823935", "UniProtKB:Q9NZ45", "PR:Q9NZ45", "ENSEMBL:ENSP00000363041", "ENSEMBL:ENSP00000363041.4", "UMLS:C2003363", "MESH:C525595"], "information_content": 95.4}
{"id": "NCBIGene:25980", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AAR2", "equivalent_identifiers": ["NCBIGene:25980", "ENSEMBL:ENSG00000131043", "HGNC:15886", "OMIM:617365", "UMLS:C1423806", "UniProtKB:Q9Y312", "PR:Q9Y312", "ENSEMBL:ENSP00000313674", "ENSEMBL:ENSP00000313674.4", "ENSEMBL:ENSP00000363043", "ENSEMBL:ENSP00000363043.3", "ENSEMBL:ENSP00000505061", "ENSEMBL:ENSP00000505061.1", "ENSEMBL:ENSP00000505295", "ENSEMBL:ENSP00000505295.1", "ENSEMBL:ENSP00000505405", "ENSEMBL:ENSP00000505405.1", "ENSEMBL:ENSP00000506185", "ENSEMBL:ENSP00000506185.1", "ENSEMBL:ENSP00000506354", "ENSEMBL:ENSP00000506354.1"], "information_content": 95.4}
{"id": "NCBIGene:253430", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IPMK", "equivalent_identifiers": ["NCBIGene:253430", "ENSEMBL:ENSG00000151151", "HGNC:20739", "OMIM:609851", "UMLS:C1427103", "UniProtKB:Q8NFU5", "PR:Q8NFU5", "ENSEMBL:ENSP00000363046", "ENSEMBL:ENSP00000363046.3"], "information_content": 95.4}
{"id": "NCBIGene:23673", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STX12", "equivalent_identifiers": ["NCBIGene:23673", "ENSEMBL:ENSG00000117758", "HGNC:11430", "OMIM:606892", "UMLS:C1420495", "UniProtKB:Q86Y82", "PR:Q86Y82", "ENSEMBL:ENSP00000363054", "ENSEMBL:ENSP00000363054.4", "UMLS:C1565508", "MESH:C496151"], "information_content": 100.0}
{"id": "UniProtKB:O95229-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "outer kinetochore KNL1 complex subunit ZWINT isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95229-1", "PR:O95229-1", "ENSEMBL:ENSP00000363055", "ENSEMBL:ENSP00000363055.3", "ENSEMBL:ENSP00000378801", "ENSEMBL:ENSP00000378801.1"], "information_content": 100.0}
{"id": "NCBIGene:65217", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCDH15", "equivalent_identifiers": ["NCBIGene:65217", "ENSEMBL:ENSG00000150275", "HGNC:14674", "OMIM:605514", "UMLS:C1422830", "UniProtKB:A0A087WTR6", "ENSEMBL:ENSP00000478076", "ENSEMBL:ENSP00000478076.1", "UMLS:C1450102", "MESH:C498835", "UniProtKB:A0A087WZN9", "ENSEMBL:ENSP00000482794", "ENSEMBL:ENSP00000482794.1", "UniProtKB:A0A087X1T6", "ENSEMBL:ENSP00000484454", "ENSEMBL:ENSP00000484454.1", "UniProtKB:A2A3D8", "ENSEMBL:ENSP00000363068", "ENSEMBL:ENSP00000363068.4", "UniProtKB:A2A3E6", "ENSEMBL:ENSP00000378818", "ENSEMBL:ENSP00000378818.1", "UniProtKB:A2A3E7", "ENSEMBL:ENSP00000354950", "ENSEMBL:ENSP00000354950.3", "UniProtKB:A2A3E8", "ENSEMBL:ENSP00000378821", "ENSEMBL:ENSP00000378821.1", "UniProtKB:A9Z1W1", "ENSEMBL:ENSP00000363076", "ENSEMBL:ENSP00000363076.3", "UniProtKB:E7EM53", "ENSEMBL:ENSP00000412628", "ENSEMBL:ENSP00000412628.2", "UniProtKB:Q96QU1", "PR:Q96QU1"]}
{"id": "NCBIGene:1674", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DES", "equivalent_identifiers": ["NCBIGene:1674", "ENSEMBL:ENSG00000175084", "HGNC:2770", "OMIM:125660", "UMLS:C1413980", "UniProtKB:P17661", "PR:P17661", "ENSEMBL:ENSP00000363071", "ENSEMBL:ENSP00000363071.3", "UMLS:C5441700", "UniProtKB:Q53SB5"], "information_content": 95.4}
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{"id": "UniProtKB:O00206-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Toll-like receptor 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00206-1", "PR:O00206-1", "ENSEMBL:ENSP00000363089", "ENSEMBL:ENSP00000363089.5"], "information_content": 87.2}
{"id": "UniProtKB:Q13976-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cGMP-dependent protein kinase 1 isoform Beta (human)", "equivalent_identifiers": ["UniProtKB:Q13976-2", "PR:Q13976-2", "ENSEMBL:ENSP00000363092", "ENSEMBL:ENSP00000363092.5"], "information_content": 100.0}
{"id": "NCBIGene:51282", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCAND1", "equivalent_identifiers": ["NCBIGene:51282", "ENSEMBL:ENSG00000171222", "HGNC:10566", "OMIM:610416", "UMLS:C1419842", "UniProtKB:P57086", "PR:P57086", "ENSEMBL:ENSP00000301995", "ENSEMBL:ENSP00000301995.2", "ENSEMBL:ENSP00000363103", "ENSEMBL:ENSP00000363103.3", "ENSEMBL:ENSP00000481289", "ENSEMBL:ENSP00000481289.1", "UMLS:C1438963", "MESH:C408468", "UniProtKB:Q9NZG6"], "information_content": 100.0}
{"id": "NCBIGene:2268", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGR", "equivalent_identifiers": ["NCBIGene:2268", "ENSEMBL:ENSG00000000938", "HGNC:3697", "OMIM:164940", "UMLS:C0919478", "UniProtKB:P09769", "PR:P09769", "ENSEMBL:ENSP00000363115", "ENSEMBL:ENSP00000363115.3", "ENSEMBL:ENSP00000363116", "ENSEMBL:ENSP00000363116.1", "ENSEMBL:ENSP00000363117", "ENSEMBL:ENSP00000363117.3", "ENSEMBL:ENSP00000382126", "ENSEMBL:ENSP00000382126.1", "UMLS:C1429388", "UniProtKB:P78453"], "information_content": 89.4}
{"id": "NCBIGene:27245", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AHDC1", "equivalent_identifiers": ["NCBIGene:27245", "ENSEMBL:ENSG00000126705", "HGNC:25230", "OMIM:615790", "UMLS:C1826617", "UniProtKB:Q5TGY3", "PR:Q5TGY3", "ENSEMBL:ENSP00000247087", "ENSEMBL:ENSP00000247087.4", "ENSEMBL:ENSP00000363123", "ENSEMBL:ENSP00000363123.2", "ENSEMBL:ENSP00000494394", "ENSEMBL:ENSP00000494394.1", "ENSEMBL:ENSP00000495072", "ENSEMBL:ENSP00000495072.1", "ENSEMBL:ENSP00000495665", "ENSEMBL:ENSP00000495665.1", "ENSEMBL:ENSP00000501218", "ENSEMBL:ENSP00000501218.1", "UMLS:C3849811", "MESH:C000589131"], "information_content": 95.4}
{"id": "UniProtKB:Q9BVI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PHD finger protein 20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVI0-1", "PR:Q9BVI0-1", "ENSEMBL:ENSP00000363124", "ENSEMBL:ENSP00000363124.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6K1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ILRUN isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6K1-1", "PR:Q9H6K1-1", "ENSEMBL:ENSP00000363135", "ENSEMBL:ENSP00000363135.3"], "information_content": 100.0}
{"id": "NCBIGene:2827", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR3", "equivalent_identifiers": ["NCBIGene:2827", "ENSEMBL:ENSG00000181773", "HGNC:4484", "OMIM:600241", "UMLS:C1415222", "UniProtKB:F1DAM5", "UMLS:C0295926", "MESH:C092794", "UniProtKB:P46089", "PR:P46089", "ENSEMBL:ENSP00000363136", "ENSEMBL:ENSP00000363136.3"], "information_content": 95.4}
{"id": "UniProtKB:O95238-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SAM pointed domain-containing Ets transcription factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95238-1", "PR:O95238-1", "ENSEMBL:ENSP00000363149", "ENSEMBL:ENSP00000363149.3"], "information_content": 100.0}
{"id": "UniProtKB:O95150-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor ligand superfamily member 15 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95150-1", "PR:O95150-1", "ENSEMBL:ENSP00000363157", "ENSEMBL:ENSP00000363157.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5VZI3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 268 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5VZI3-3", "PR:Q5VZI3-3", "ENSEMBL:ENSP00000363161", "ENSEMBL:ENSP00000363161.4"], "information_content": 100.0}
{"id": "MONDO:0006654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anthracosis", "equivalent_identifiers": ["MONDO:0006654", "DOID:10327", "EFO:1000814", "UMLS:C0003165", "MESH:D055008", "MEDDRA:10009803", "MEDDRA:10009804", "MEDDRA:10073051", "NCIT:C34390", "SNOMEDCT:29422001", "medgen:8107", "ICD9:500", "HP:0033375"], "information_content": 100.0}
{"id": "NCBIGene:9550", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP6V1G1", "equivalent_identifiers": ["NCBIGene:9550", "ENSEMBL:ENSG00000136888", "HGNC:864", "OMIM:607296", "UMLS:C1412684", "UniProtKB:O75348", "PR:O75348", "ENSEMBL:ENSP00000363162", "ENSEMBL:ENSP00000363162.3", "UMLS:C4042722", "MESH:C000594810"], "information_content": 90.9}
{"id": "MONDO:0009786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 6", "equivalent_identifiers": ["MONDO:0009786", "DOID:0111435", "OMIM:258500", "UMLS:C1850281", "MESH:C537127", "medgen:338012"], "information_content": 100.0}
{"id": "UniProtKB:P60602-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reactive oxygen species modulator 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P60602-1", "PR:P60602-1", "ENSEMBL:ENSP00000338293", "ENSEMBL:ENSP00000338293.4", "ENSEMBL:ENSP00000363190", "ENSEMBL:ENSP00000363190.3", "ENSEMBL:ENSP00000363191", "ENSEMBL:ENSP00000363191.1", "ENSEMBL:ENSP00000380561", "ENSEMBL:ENSP00000380561.1"], "information_content": 100.0}
{"id": "UniProtKB:Q93074-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q93074-1", "PR:Q93074-1", "ENSEMBL:ENSP00000363193", "ENSEMBL:ENSP00000363193.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y697-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine desulfurase isoform Mitochondrial (human)", "equivalent_identifiers": ["UniProtKB:Q9Y697-1", "PR:Q9Y697-1", "ENSEMBL:ENSP00000363205", "ENSEMBL:ENSP00000363205.3"], "information_content": 95.4}
{"id": "NCBIGene:729092", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGAP5", "equivalent_identifiers": ["NCBIGene:729092", "ENSEMBL:ENSG00000172650", "HGNC:23467", "OMIM:621156", "UMLS:C1539153", "UniProtKB:A6NIR3", "PR:A6NIR3", "ENSEMBL:ENSP00000363207", "ENSEMBL:ENSP00000363207.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULD0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-oxoglutarate dehydrogenase-like, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULD0-1", "PR:Q9ULD0-1", "ENSEMBL:ENSP00000363216", "ENSEMBL:ENSP00000363216.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6V4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UPF0728 protein C10orf53 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6V4-4", "PR:Q8N6V4-4", "ENSEMBL:ENSP00000363226", "ENSEMBL:ENSP00000363226.3"], "information_content": 100.0}
{"id": "NCBIGene:10137", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBM12", "equivalent_identifiers": ["NCBIGene:10137", "ENSEMBL:ENSG00000244462", "HGNC:9898", "OMIM:607179", "UMLS:C1419298", "UniProtKB:Q9NTZ6", "PR:Q9NTZ6", "ENSEMBL:ENSP00000352668", "ENSEMBL:ENSP00000352668.1", "ENSEMBL:ENSP00000363217", "ENSEMBL:ENSP00000363217.3", "ENSEMBL:ENSP00000363228", "ENSEMBL:ENSP00000363228.3", "UMLS:C0968160", "MESH:C431696"], "information_content": 95.4}
{"id": "NCBIGene:6572", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC18A3", "equivalent_identifiers": ["NCBIGene:6572", "ENSEMBL:ENSG00000187714", "HGNC:10936", "OMIM:600336", "UMLS:C1420116", "UniProtKB:Q16572", "PR:Q16572", "ENSEMBL:ENSP00000363229", "ENSEMBL:ENSP00000363229.3", "UMLS:C1527596", "MESH:C493459"], "information_content": 100.0}
{"id": "UniProtKB:Q5T7W0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 618 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T7W0-1", "PR:Q5T7W0-1", "ENSEMBL:ENSP00000363241", "ENSEMBL:ENSP00000363241.5"], "information_content": 100.0}
{"id": "NCBIGene:54707", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPN2", "equivalent_identifiers": ["NCBIGene:54707", "ENSEMBL:ENSG00000142751", "HGNC:25513", "UMLS:C1825845", "UniProtKB:Q9H9Y4", "PR:Q9H9Y4", "ENSEMBL:ENSP00000363250", "ENSEMBL:ENSP00000363250.3"], "information_content": 92.8}
{"id": "NCBIGene:644168", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRGX", "equivalent_identifiers": ["NCBIGene:644168", "ENSEMBL:ENSG00000165606", "HGNC:21536", "OMIM:606701", "UMLS:C1427595", "UniProtKB:A6NNA5", "PR:A6NNA5", "ENSEMBL:ENSP00000363254", "ENSEMBL:ENSP00000363254.1", "UMLS:C1450255", "MESH:C486652"], "information_content": 95.4}
{"id": "UniProtKB:P49796-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P49796-3", "PR:P49796-3", "ENSEMBL:ENSP00000259406", "ENSEMBL:ENSP00000259406.7", "ENSEMBL:ENSP00000363255", "ENSEMBL:ENSP00000363255.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUE0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyltransferase ZDHHC18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUE0-1", "PR:Q9NUE0-1", "ENSEMBL:ENSP00000363257", "ENSEMBL:ENSP00000363257.3"], "information_content": 100.0}
{"id": "UniProtKB:Q711Q0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cardiac-enriched FHL2-interacting protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q711Q0-1", "PR:Q711Q0-1", "ENSEMBL:ENSP00000363259", "ENSEMBL:ENSP00000363259.3"], "information_content": 100.0}
{"id": "NCBIGene:55650", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIGV", "equivalent_identifiers": ["NCBIGene:55650", "ENSEMBL:ENSG00000060642", "HGNC:26031", "OMIM:610274", "UMLS:C1538644", "UniProtKB:A0A6I8PU65", "ENSEMBL:ENSP00000501446", "ENSEMBL:ENSP00000501446.1", "ENSEMBL:ENSP00000508720", "ENSEMBL:ENSP00000508720.1", "UniProtKB:A0A8I5KQ29", "ENSEMBL:ENSP00000509240", "ENSEMBL:ENSP00000509240.1", "UniProtKB:A0A8I5KRV8", "ENSEMBL:ENSP00000509280", "ENSEMBL:ENSP00000509280.1", "UniProtKB:Q9NUD9", "PR:Q9NUD9", "ENSEMBL:ENSP00000078527", "ENSEMBL:ENSP00000078527.4", "ENSEMBL:ENSP00000363260", "ENSEMBL:ENSP00000363260.1", "ENSEMBL:ENSP00000406080", "ENSEMBL:ENSP00000406080.2", "ENSEMBL:ENSP00000501335", "ENSEMBL:ENSP00000501335.1", "ENSEMBL:ENSP00000501479", "ENSEMBL:ENSP00000501479.1", "ENSEMBL:ENSP00000501527", "ENSEMBL:ENSP00000501527.1", "ENSEMBL:ENSP00000508665", "ENSEMBL:ENSP00000508665.1", "ENSEMBL:ENSP00000510357", "ENSEMBL:ENSP00000510357.1", "UMLS:C2976119", "MESH:C553105"], "information_content": 95.4}
{"id": "UniProtKB:Q8N456-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N456-1", "PR:Q8N456-1", "ENSEMBL:ENSP00000363275", "ENSEMBL:ENSP00000363275.3"], "information_content": 100.0}
{"id": "NCBIGene:54107", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLE3", "equivalent_identifiers": ["NCBIGene:54107", "ENSEMBL:ENSG00000148229", "HGNC:13546", "OMIM:607267", "UMLS:C1422055", "UniProtKB:Q9NRF9", "PR:Q9NRF9", "ENSEMBL:ENSP00000363284", "ENSEMBL:ENSP00000363284.3", "ENSEMBL:ENSP00000363286", "ENSEMBL:ENSP00000363286.4", "UMLS:C0961070", "MESH:C413905"], "information_content": 95.4}
{"id": "UniProtKB:Q5W0U4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B box and SPRY domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5W0U4-1", "PR:Q5W0U4-1", "ENSEMBL:ENSP00000363298", "ENSEMBL:ENSP00000363298.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8NA23-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 31 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NA23-1", "PR:Q8NA23-1", "ENSEMBL:ENSP00000363308", "ENSEMBL:ENSP00000363308.3"], "information_content": 100.0}
{"id": "UniProtKB:O43172-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U4/U6 small nuclear ribonucleoprotein Prp4 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:O43172-2", "PR:O43172-2", "ENSEMBL:ENSP00000363313", "ENSEMBL:ENSP00000363313.4"], "information_content": 100.0}
{"id": "NCBIGene:79727", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIN28A", "equivalent_identifiers": ["NCBIGene:79727", "ENSEMBL:ENSG00000131914", "HGNC:15986", "OMIM:611043", "UMLS:C1423887", "UniProtKB:Q9H9Z2", "PR:Q9H9Z2", "ENSEMBL:ENSP00000254231", "ENSEMBL:ENSP00000254231.4", "ENSEMBL:ENSP00000363314", "ENSEMBL:ENSP00000363314.3", "UMLS:C2346677"], "information_content": 92.8}
{"id": "UniProtKB:Q68DX3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FERM and PDZ domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68DX3-1", "PR:Q68DX3-1", "ENSEMBL:ENSP00000363317", "ENSEMBL:ENSP00000363317.3"], "information_content": 100.0}
{"id": "MONDO:0019008", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign recurrent intrahepatic cholestasis", "equivalent_identifiers": ["MONDO:0019008", "DOID:0070230", "OMIM.PS:243300", "orphanet:65682", "UMLS:C0149841", "MEDDRA:10087038", "NCIT:C84402", "SNOMEDCT:31155007", "medgen:57703", "icd11.foundation:288945286"], "information_content": 90.9}
{"id": "UniProtKB:P31785-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytokine receptor common subunit gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P31785-1", "PR:P31785-1", "ENSEMBL:ENSP00000363318", "ENSEMBL:ENSP00000363318.3"], "information_content": 100.0}
{"id": "NCBIGene:246184", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC26", "equivalent_identifiers": ["NCBIGene:246184", "ENSEMBL:ENSG00000176386", "HGNC:17839", "OMIM:614533", "UMLS:C1425120", "UniProtKB:Q8NHZ8", "PR:Q8NHZ8", "ENSEMBL:ENSP00000363322", "ENSEMBL:ENSP00000363322.3"], "information_content": 95.4}
{"id": "NCBIGene:1317", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC31A1", "equivalent_identifiers": ["NCBIGene:1317", "ENSEMBL:ENSG00000136868", "HGNC:11016", "OMIM:603085", "UMLS:C1420182", "UniProtKB:O15431", "PR:O15431", "ENSEMBL:ENSP00000363329", "ENSEMBL:ENSP00000363329.4", "UMLS:C0962796", "MESH:C490079"], "information_content": 100.0}
{"id": "NCBIGene:1043", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD52", "equivalent_identifiers": ["NCBIGene:1043", "ENSEMBL:ENSG00000169442", "HGNC:1804", "OMIM:114280", "UMLS:C1539083", "UniProtKB:P31358", "PR:P31358", "ENSEMBL:ENSP00000363330", "ENSEMBL:ENSP00000363330.2", "UMLS:C0376272", "MESH:C000613862", "UniProtKB:V9HWN9"], "information_content": 100.0}
{"id": "UniProtKB:Q5T124-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UBX domain-containing protein 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T124-1", "PR:Q5T124-1", "ENSEMBL:ENSP00000363338", "ENSEMBL:ENSP00000363338.3", "ENSEMBL:ENSP00000363339", "ENSEMBL:ENSP00000363339.1"], "information_content": 100.0}
{"id": "MONDO:0004483", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid gland oncocytic adenoma", "equivalent_identifiers": ["MONDO:0004483", "DOID:8162", "UMLS:C1336750", "NCIT:C6042", "medgen:237009", "HP:0006781"], "information_content": 100.0}
{"id": "NCBIGene:57864", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC46A2", "equivalent_identifiers": ["NCBIGene:57864", "ENSEMBL:ENSG00000119457", "HGNC:16055", "OMIM:608956", "UMLS:C1423942", "UniProtKB:Q9BY10", "PR:Q9BY10", "ENSEMBL:ENSP00000363345", "ENSEMBL:ENSP00000363345.4", "UMLS:C0912889", "MESH:C405582", "UniProtKB:S4R3Y2", "ENSEMBL:ENSP00000474847", "ENSEMBL:ENSP00000474847.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9NRY2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SOSS complex subunit C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRY2-1", "PR:Q9NRY2-1", "ENSEMBL:ENSP00000363360", "ENSEMBL:ENSP00000363360.3"], "information_content": 100.0}
{"id": "UniProtKB:Q969H4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "connector enhancer of kinase suppressor of ras 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969H4-1", "PR:Q969H4-1", "ENSEMBL:ENSP00000363371", "ENSEMBL:ENSP00000363371.5"], "information_content": 100.0}
{"id": "UniProtKB:P98177-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein O4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P98177-1", "PR:P98177-1", "ENSEMBL:ENSP00000363377", "ENSEMBL:ENSP00000363377.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWL2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sushi domain-containing protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWL2-2", "PR:Q6UWL2-2", "ENSEMBL:ENSP00000363382", "ENSEMBL:ENSP00000363382.2"], "information_content": 100.0}
{"id": "NCBIGene:149420", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDIK1L", "equivalent_identifiers": ["NCBIGene:149420", "ENSEMBL:ENSG00000175087", "HGNC:18981", "OMIM:610785", "UMLS:C1538612", "UniProtKB:Q8N165", "PR:Q8N165", "ENSEMBL:ENSP00000363387", "ENSEMBL:ENSP00000363387.1", "ENSEMBL:ENSP00000363389", "ENSEMBL:ENSP00000363389.4", "ENSEMBL:ENSP00000480635", "ENSEMBL:ENSP00000480635.1", "UMLS:C1435948", "MESH:C482688"], "information_content": 95.4}
{"id": "MONDO:0008717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromesomelic dysplasia 2C, Hunter-Thompson type", "equivalent_identifiers": ["MONDO:0008717", "DOID:0080051", "OMIM:201250", "orphanet:968", "UMLS:C2930970", "SNOMEDCT:389167007", "medgen:419681"], "information_content": 100.0}
{"id": "UniProtKB:Q969Q1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM63 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969Q1-1", "PR:Q969Q1-1", "ENSEMBL:ENSP00000363390", "ENSEMBL:ENSP00000363390.3"], "information_content": 100.0}
{"id": "NCBIGene:6676", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPAG4", "equivalent_identifiers": ["NCBIGene:6676", "ENSEMBL:ENSG00000061656", "HGNC:11214", "OMIM:603038", "UMLS:C1420338", "UniProtKB:A0A7P0Z4G5", "ENSEMBL:ENSP00000505928", "ENSEMBL:ENSP00000505928.1", "UMLS:C1431500", "MESH:C114799", "UniProtKB:Q9NPE6", "PR:Q9NPE6", "ENSEMBL:ENSP00000363391", "ENSEMBL:ENSP00000363391.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRI3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proton-coupled zinc antiporter SLC30A2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRI3-2", "PR:Q9BRI3-2", "ENSEMBL:ENSP00000363394", "ENSEMBL:ENSP00000363394.3"], "information_content": 100.0}
{"id": "NCBIGene:7357", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UGCG", "equivalent_identifiers": ["NCBIGene:7357", "ENSEMBL:ENSG00000148154", "HGNC:12524", "OMIM:602874", "UMLS:C1421319", "UniProtKB:Q16739", "PR:Q16739", "ENSEMBL:ENSP00000363397", "ENSEMBL:ENSP00000363397.3", "UMLS:C4283742", "UMLS:C5829025", "MESH:C000728455"], "information_content": 88.2}
{"id": "NCBIGene:2134", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXTL1", "equivalent_identifiers": ["NCBIGene:2134", "ENSEMBL:ENSG00000158008", "HGNC:3515", "OMIM:601738", "UMLS:C1333366", "UniProtKB:Q92935", "PR:Q92935", "ENSEMBL:ENSP00000363398", "ENSEMBL:ENSP00000363398.3", "UMLS:C1333484", "MESH:C121267"], "information_content": 100.0}
{"id": "MONDO:0004367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "petroclival meningioma", "equivalent_identifiers": ["MONDO:0004367", "DOID:7818", "UMLS:C1335395", "NCIT:C5278", "medgen:277511"], "information_content": 100.0}
{"id": "NCBIGene:5051", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAFAH2", "equivalent_identifiers": ["NCBIGene:5051", "ENSEMBL:ENSG00000158006", "HGNC:8579", "OMIM:602344", "UMLS:C1418250", "UniProtKB:Q99487", "PR:Q99487", "ENSEMBL:ENSP00000363400", "ENSEMBL:ENSP00000363400.3", "ENSEMBL:ENSP00000363402", "ENSEMBL:ENSP00000363402.1"], "information_content": 92.8}
{"id": "UniProtKB:Q5VXU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein shortage in chiasmata 1 ortholog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VXU9-1", "PR:Q5VXU9-1", "ENSEMBL:ENSP00000322108", "ENSEMBL:ENSP00000322108.4", "ENSEMBL:ENSP00000363405", "ENSEMBL:ENSP00000363405.3"], "information_content": 100.0}
{"id": "NCBIGene:2790", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNG10", "equivalent_identifiers": ["NCBIGene:2790", "ENSEMBL:ENSG00000242616", "HGNC:4402", "OMIM:604389", "UMLS:C1415153", "UniProtKB:P50151", "PR:P50151", "ENSEMBL:ENSP00000363411", "ENSEMBL:ENSP00000363411.3", "UMLS:C1415153"], "information_content": 95.4}
{"id": "NCBIGene:164091", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAQR7", "equivalent_identifiers": ["NCBIGene:164091", "ENSEMBL:ENSG00000182749", "HGNC:23146", "OMIM:607779", "UMLS:C1826541", "UniProtKB:Q86WK9", "PR:Q86WK9", "ENSEMBL:ENSP00000363414", "ENSEMBL:ENSP00000363414.3", "ENSEMBL:ENSP00000502514", "ENSEMBL:ENSP00000502514.1", "UMLS:C3252940"], "information_content": 95.4}
{"id": "NCBIGene:84889", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC7A3", "equivalent_identifiers": ["NCBIGene:84889", "ENSEMBL:ENSG00000165349", "HGNC:11061", "OMIM:300443", "UMLS:C1420223", "UniProtKB:Q8WY07", "PR:Q8WY07", "ENSEMBL:ENSP00000298085", "ENSEMBL:ENSP00000298085.4", "ENSEMBL:ENSP00000363417", "ENSEMBL:ENSP00000363417.3", "UMLS:C4042646", "MESH:C000595109"], "information_content": 95.4}
{"id": "UniProtKB:Q9H019-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial fission regulator 1-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H019-1", "PR:Q9H019-1", "ENSEMBL:ENSP00000363418", "ENSEMBL:ENSP00000363418.3", "ENSEMBL:ENSP00000363419", "ENSEMBL:ENSP00000363419.3", "ENSEMBL:ENSP00000363421", "ENSEMBL:ENSP00000363421.2"], "information_content": 100.0}
{"id": "UniProtKB:P50391", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NPY4R_HUMAN Neuropeptide Y receptor type 4 (sprot)", "equivalent_identifiers": ["UniProtKB:P50391", "PR:P50391", "ENSEMBL:ENSP00000363431", "ENSEMBL:ENSP00000363431.1", "ENSEMBL:ENSP00000480883", "ENSEMBL:ENSP00000480883.1"], "information_content": 95.4}
{"id": "NCBIGene:3710", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITPR3", "equivalent_identifiers": ["NCBIGene:3710", "ENSEMBL:ENSG00000096433", "HGNC:6182", "OMIM:147267", "UMLS:C1416519", "UniProtKB:A6H8K3", "UMLS:C1568957", "MESH:C506929", "UniProtKB:Q14573", "PR:Q14573", "ENSEMBL:ENSP00000363435", "ENSEMBL:ENSP00000363435.4", "ENSEMBL:ENSP00000475177", "ENSEMBL:ENSP00000475177.1", "UniProtKB:Q59ES2"], "information_content": 86.3}
{"id": "NCBIGene:9721", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPRIN2", "equivalent_identifiers": ["NCBIGene:9721", "ENSEMBL:ENSG00000204175", "HGNC:23730", "OMIM:611240", "UMLS:C1825414", "UniProtKB:O60269", "PR:O60269", "ENSEMBL:ENSP00000363433", "ENSEMBL:ENSP00000363433.4", "ENSEMBL:ENSP00000363436", "ENSEMBL:ENSP00000363436.1", "UMLS:C1565939", "MESH:C496662"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQS2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptotagmin-15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQS2-1", "PR:Q9BQS2-1", "ENSEMBL:ENSP00000363441", "ENSEMBL:ENSP00000363441.4"], "information_content": 100.0}
{"id": "NCBIGene:26119", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LDLRAP1", "equivalent_identifiers": ["NCBIGene:26119", "ENSEMBL:ENSG00000157978", "HGNC:18640", "OMIM:605747", "UMLS:C1537558", "UniProtKB:B3KR97", "UniProtKB:Q5SW96", "PR:Q5SW96", "ENSEMBL:ENSP00000363458", "ENSEMBL:ENSP00000363458.4", "UMLS:C1172958", "MESH:C469745"], "information_content": 100.0}
{"id": "UniProtKB:Q4JDL3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein phosphatase non-receptor type 20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4JDL3-1", "PR:Q4JDL3-1", "ENSEMBL:ENSP00000363459", "ENSEMBL:ENSP00000363459.3"], "information_content": 100.0}
{"id": "NCBIGene:23585", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM50A", "equivalent_identifiers": ["NCBIGene:23585", "ENSEMBL:ENSG00000183726", "HGNC:30590", "OMIM:605348", "UMLS:C1823310", "UniProtKB:B7Z5M7", "UniProtKB:O95807", "PR:O95807", "ENSEMBL:ENSP00000363478", "ENSEMBL:ENSP00000363478.4", "UniProtKB:Q7RU07"], "information_content": 90.9}
{"id": "UniProtKB:Q92796-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disks large homolog 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92796-1", "PR:Q92796-1", "ENSEMBL:ENSP00000363480", "ENSEMBL:ENSP00000363480.3"], "information_content": 100.0}
{"id": "NCBIGene:8200", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GDF5", "equivalent_identifiers": ["NCBIGene:8200", "ENSEMBL:ENSG00000125965", "HGNC:4220", "OMIM:601146", "UMLS:C1333666", "UniProtKB:F1T0J1", "UniProtKB:P43026", "PR:P43026", "ENSEMBL:ENSP00000363489", "ENSEMBL:ENSP00000363489.3", "ENSEMBL:ENSP00000363492", "ENSEMBL:ENSP00000363492.1", "UMLS:C2003595", "MESH:C525893"], "information_content": 87.2}
{"id": "MONDO:0007737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "humeroradial synostosis", "equivalent_identifiers": ["MONDO:0007737", "DOID:0060467", "OMIM:143050", "orphanet:3265", "UMLS:C1863360", "UMLS:C2930865", "UMLS:C5975702", "MESH:C535284", "SNOMEDCT:205329008", "medgen:418931", "icd11.foundation:518723993", "HP:0003041"], "information_content": 89.4}
{"id": "NCBIGene:25932", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLIC4", "equivalent_identifiers": ["NCBIGene:25932", "ENSEMBL:ENSG00000169504", "HGNC:13518", "OMIM:606536", "UMLS:C1332766", "UniProtKB:Q6FIC5", "UniProtKB:Q9Y696", "PR:Q9Y696", "ENSEMBL:ENSP00000363500", "ENSEMBL:ENSP00000363500.4", "ENSEMBL:ENSP00000436538", "ENSEMBL:ENSP00000436538.1", "UMLS:C1142877", "MESH:C464459"], "information_content": 92.8}
{"id": "UniProtKB:Q9NVA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquinol-cytochrome c reductase complex assembly factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVA1-1", "PR:Q9NVA1-1", "ENSEMBL:ENSP00000363506", "ENSEMBL:ENSP00000363506.5"], "information_content": 100.0}
{"id": "UniProtKB:P09917-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyunsaturated fatty acid 5-lipoxygenase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P09917-1", "PR:P09917-1", "ENSEMBL:ENSP00000363512", "ENSEMBL:ENSP00000363512.2", "ENSEMBL:ENSP00000484468", "ENSEMBL:ENSP00000484468.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKA8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcipressin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKA8-1", "PR:Q9UKA8-1", "ENSEMBL:ENSP00000363516", "ENSEMBL:ENSP00000363516.3", "ENSEMBL:ENSP00000445401", "ENSEMBL:ENSP00000445401.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6P499-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NIPA-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P499-1", "PR:Q6P499-1", "ENSEMBL:ENSP00000363520", "ENSEMBL:ENSP00000363520.4"], "information_content": 100.0}
{"id": "UniProtKB:O95239-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromosome-associated kinesin KIF4A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95239-1", "PR:O95239-1", "ENSEMBL:ENSP00000363524", "ENSEMBL:ENSP00000363524.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5TH74-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "O(6)-methylguanine-induced apoptosis 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TH74-1", "PR:Q5TH74-1", "ENSEMBL:ENSP00000337461", "ENSEMBL:ENSP00000337461.4", "ENSEMBL:ENSP00000363530", "ENSEMBL:ENSP00000363530.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92633-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysophosphatidic acid receptor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92633-1", "PR:Q92633-1", "ENSEMBL:ENSP00000351755", "ENSEMBL:ENSP00000351755.4", "ENSEMBL:ENSP00000363552", "ENSEMBL:ENSP00000363552.1", "ENSEMBL:ENSP00000363553", "ENSEMBL:ENSP00000363553.3", "ENSEMBL:ENSP00000506912", "ENSEMBL:ENSP00000506912.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5VTT5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myomesin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VTT5-1", "PR:Q5VTT5-1", "ENSEMBL:ENSP00000363557", "ENSEMBL:ENSP00000363557.3"], "information_content": 100.0}
{"id": "UniProtKB:P56537-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P56537-1", "PR:P56537-1", "ENSEMBL:ENSP00000363559", "ENSEMBL:ENSP00000363559.3", "ENSEMBL:ENSP00000363574", "ENSEMBL:ENSP00000363574.3", "ENSEMBL:ENSP00000502429", "ENSEMBL:ENSP00000502429.1"], "information_content": 100.0}
{"id": "UniProtKB:O15146-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "muscle, skeletal receptor tyrosine-protein kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15146-1", "PR:O15146-1", "ENSEMBL:ENSP00000363571", "ENSEMBL:ENSP00000363571.4"], "information_content": 100.0}
{"id": "MONDO:0002163", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thymus lipoma", "equivalent_identifiers": ["MONDO:0002163", "DOID:1975", "UMLS:C1336744", "NCIT:C6452", "SNOMEDCT:447137005", "medgen:234427"], "information_content": 100.0}
{"id": "MONDO:0000774", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune neuropathy", "equivalent_identifiers": ["MONDO:0000774", "DOID:0040087", "DOID:0060499", "UMLS:C2748363", "MEDDRA:10070439", "medgen:1843469"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9B8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-GEF domain-containing family member 1A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9B8-2", "PR:Q8N9B8-2", "ENSEMBL:ENSP00000363583", "ENSEMBL:ENSP00000363583.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6G5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6G5-1", "PR:Q8N6G5-1", "ENSEMBL:ENSP00000363590", "ENSEMBL:ENSP00000363590.3"], "information_content": 100.0}
{"id": "UniProtKB:Q16611-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Bcl-2 homologous antagonist/killer isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16611-1", "PR:Q16611-1", "ENSEMBL:ENSP00000363591", "ENSEMBL:ENSP00000363591.3"], "information_content": 100.0}
{"id": "UniProtKB:Q4LDE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4LDE5-1", "PR:Q4LDE5-1", "ENSEMBL:ENSP00000363593", "ENSEMBL:ENSP00000363593.2"], "information_content": 100.0}
{"id": "NCBIGene:1269", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNR2", "equivalent_identifiers": ["NCBIGene:1269", "ENSEMBL:ENSG00000188822", "HGNC:2160", "OMIM:605051", "UMLS:C1413555", "UniProtKB:P34972", "PR:P34972", "ENSEMBL:ENSP00000363596", "ENSEMBL:ENSP00000363596.4", "UMLS:C3849070", "MESH:C588309"], "information_content": 90.9}
{"id": "UniProtKB:Q5JT25-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-41 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JT25-1", "PR:Q5JT25-1", "ENSEMBL:ENSP00000363597", "ENSEMBL:ENSP00000363597.2"], "information_content": 100.0}
{"id": "NCBIGene:2517", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FUCA1", "equivalent_identifiers": ["NCBIGene:2517", "ENSEMBL:ENSG00000179163", "HGNC:4006", "OMIM:612280", "UMLS:C1414857", "UniProtKB:P04066", "PR:P04066", "ENSEMBL:ENSP00000363603", "ENSEMBL:ENSP00000363603.3", "UMLS:C3884563", "MESH:C000593239"], "information_content": 92.8}
{"id": "UniProtKB:P35914-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35914-1", "PR:P35914-1", "ENSEMBL:ENSP00000363614", "ENSEMBL:ENSP00000363614.3"], "information_content": 95.4}
{"id": "UniProtKB:Q6A555-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin domain-containing protein 8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6A555-2", "PR:Q6A555-2", "ENSEMBL:ENSP00000363634", "ENSEMBL:ENSP00000363634.4"], "information_content": 100.0}
{"id": "NCBIGene:11313", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LYPLA2", "equivalent_identifiers": ["NCBIGene:11313", "ENSEMBL:ENSG00000011009", "HGNC:6738", "OMIM:616143", "UMLS:C1416944", "UniProtKB:A0A140VJC9", "UMLS:C3657400", "MESH:C581317", "UniProtKB:O95372", "PR:O95372", "ENSEMBL:ENSP00000363638", "ENSEMBL:ENSP00000363638.3"], "information_content": 92.8}
{"id": "UniProtKB:O43189-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PHD finger protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O43189-1", "PR:O43189-1", "ENSEMBL:ENSP00000363640", "ENSEMBL:ENSP00000363640.3"], "information_content": 100.0}
{"id": "UniProtKB:P10599-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P10599-1", "PR:P10599-1", "ENSEMBL:ENSP00000363641", "ENSEMBL:ENSP00000363641.5"], "information_content": 100.0}
{"id": "NCBIGene:9790", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BMS1", "equivalent_identifiers": ["NCBIGene:9790", "ENSEMBL:ENSG00000165733", "HGNC:23505", "OMIM:611448", "UMLS:C1428109", "UniProtKB:Q14692", "PR:Q14692", "ENSEMBL:ENSP00000363642", "ENSEMBL:ENSP00000363642.4"], "information_content": 95.4}
{"id": "NCBIGene:5030", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "P2RY4", "equivalent_identifiers": ["NCBIGene:5030", "ENSEMBL:ENSG00000186912", "HGNC:8542", "OMIM:300038", "UMLS:C1418220", "UniProtKB:P51582", "PR:P51582", "ENSEMBL:ENSP00000363643", "ENSEMBL:ENSP00000363643.2", "UMLS:C2745737"], "information_content": 100.0}
{"id": "NCBIGene:158833", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AWAT1", "equivalent_identifiers": ["NCBIGene:158833", "ENSEMBL:ENSG00000204195", "HGNC:23252", "OMIM:300924", "UMLS:C2681179", "UniProtKB:Q58HT5", "PR:Q58HT5", "ENSEMBL:ENSP00000363645", "ENSEMBL:ENSP00000363645.3", "UMLS:C1569545", "MESH:C500795"], "information_content": 92.8}
{"id": "UniProtKB:Q9Y2D5-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PALM2-AKAP2 readthrough protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2D5-4", "PR:Q9Y2D5-4", "ENSEMBL:ENSP00000363654", "ENSEMBL:ENSP00000363654.3"], "information_content": 100.0}
{"id": "NCBIGene:3476", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGBP1", "equivalent_identifiers": ["NCBIGene:3476", "ENSEMBL:ENSG00000089289", "HGNC:5461", "OMIM:300139", "UMLS:C1334087", "UniProtKB:P78318", "PR:P78318", "ENSEMBL:ENSP00000348784", "ENSEMBL:ENSP00000348784.4", "ENSEMBL:ENSP00000363661", "ENSEMBL:ENSP00000363661.5", "UMLS:C1334162", "MESH:C490467"], "information_content": 100.0}
{"id": "UniProtKB:P26045-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein phosphatase non-receptor type 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P26045-1", "PR:P26045-1", "ENSEMBL:ENSP00000363667", "ENSEMBL:ENSP00000363667.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92838-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ectodysplasin-A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92838-1", "PR:Q92838-1", "ENSEMBL:ENSP00000363680", "ENSEMBL:ENSP00000363680.4"], "information_content": 100.0}
{"id": "NCBIGene:3399", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ID3", "equivalent_identifiers": ["NCBIGene:3399", "ENSEMBL:ENSG00000117318", "HGNC:5362", "OMIM:600277", "UMLS:C1415856", "UniProtKB:Q02535", "PR:Q02535", "ENSEMBL:ENSP00000363689", "ENSEMBL:ENSP00000363689.5", "ENSEMBL:ENSP00000489102", "ENSEMBL:ENSP00000489102.1", "UMLS:C0170275", "UMLS:C3539569", "MESH:C075640"], "information_content": 86.3}
{"id": "UniProtKB:Q9H329-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "band 4.1-like protein 4B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H329-1", "PR:Q9H329-1", "ENSEMBL:ENSP00000363694", "ENSEMBL:ENSP00000363694.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13873-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bone morphogenetic protein receptor type-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13873-1", "PR:Q13873-1", "ENSEMBL:ENSP00000363708", "ENSEMBL:ENSP00000363708.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H330-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 245 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H330-2", "PR:Q9H330-2", "ENSEMBL:ENSP00000363714", "ENSEMBL:ENSP00000363714.3"], "information_content": 100.0}
{"id": "UniProtKB:Q92502-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "StAR-related lipid transfer protein 8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92502-2", "PR:Q92502-2", "ENSEMBL:ENSP00000363727", "ENSEMBL:ENSP00000363727.3"], "information_content": 100.0}
{"id": "UniProtKB:O43390-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein R isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O43390-2", "PR:O43390-2", "ENSEMBL:ENSP00000363745", "ENSEMBL:ENSP00000363745.3", "ENSEMBL:ENSP00000488945", "ENSEMBL:ENSP00000488945.1"], "information_content": 100.0}
{"id": "NCBIGene:9277", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR46", "equivalent_identifiers": ["NCBIGene:9277", "ENSEMBL:ENSG00000227057", "HGNC:13923", "OMIM:611440", "UMLS:C1823823", "UniProtKB:A0A1U9X8W1", "UMLS:C1310422", "MESH:C449187", "UniProtKB:A8K806", "UniProtKB:B4DP15", "UniProtKB:O15213", "PR:O15213", "ENSEMBL:ENSP00000363746", "ENSEMBL:ENSP00000363746.4", "ENSEMBL:ENSP00000372695", "ENSEMBL:ENSP00000372695.4", "ENSEMBL:ENSP00000399454", "ENSEMBL:ENSP00000399454.2", "ENSEMBL:ENSP00000402869", "ENSEMBL:ENSP00000402869.2", "ENSEMBL:ENSP00000405614", "ENSEMBL:ENSP00000405614.2"], "information_content": 88.2}
{"id": "NCBIGene:3352", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTR1D", "equivalent_identifiers": ["NCBIGene:3352", "ENSEMBL:ENSG00000179546", "HGNC:5289", "OMIM:182133", "UMLS:C1415805", "UniProtKB:P28221", "PR:P28221", "ENSEMBL:ENSP00000363748", "ENSEMBL:ENSP00000363748.1"], "information_content": 100.0}
{"id": "NCBIGene:54942", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABITRAM", "equivalent_identifiers": ["NCBIGene:54942", "ENSEMBL:ENSG00000119328", "HGNC:1364", "OMIM:620392", "UMLS:C3470277", "UniProtKB:Q9NX38", "PR:Q9NX38", "ENSEMBL:ENSP00000363753", "ENSEMBL:ENSP00000363753.3", "UMLS:C4044955", "MESH:C000596015", "UniProtKB:X6R8U7", "ENSEMBL:ENSP00000363754", "ENSEMBL:ENSP00000363754.3"], "information_content": 100.0}
{"id": "NCBIGene:714", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1QC", "equivalent_identifiers": ["NCBIGene:714", "ENSEMBL:ENSG00000159189", "HGNC:1245", "OMIM:120575", "UMLS:C1823200", "UniProtKB:A0A024RAA7", "UniProtKB:A0A8Q3SIZ0", "ENSEMBL:ENSP00000512142", "ENSEMBL:ENSP00000512142.1", "ENSEMBL:ENSP00000512146", "ENSEMBL:ENSP00000512146.1", "UniProtKB:P02747", "PR:P02747", "ENSEMBL:ENSP00000363768", "ENSEMBL:ENSP00000363768.1", "ENSEMBL:ENSP00000363770", "ENSEMBL:ENSP00000363770.3", "ENSEMBL:ENSP00000363771", "ENSEMBL:ENSP00000363771.4", "ENSEMBL:ENSP00000512144", "ENSEMBL:ENSP00000512144.1", "UMLS:C5848962"], "information_content": 95.4}
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{"id": "NCBIGene:3339", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPG2", "equivalent_identifiers": ["NCBIGene:3339", "ENSEMBL:ENSG00000142798", "HGNC:5273", "OMIM:142461", "UMLS:C1415793", "UniProtKB:P98160", "PR:P98160", "ENSEMBL:ENSP00000363827", "ENSEMBL:ENSP00000363827.3", "UMLS:C1610513", "UMLS:C2987155"], "information_content": 71.3}
{"id": "NCBIGene:316", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AOX1", "equivalent_identifiers": ["NCBIGene:316", "ENSEMBL:ENSG00000138356", "HGNC:553", "OMIM:602841", "UMLS:C1412433", "UniProtKB:Q06278", "PR:Q06278", "ENSEMBL:ENSP00000363832", "ENSEMBL:ENSP00000363832.2", "UMLS:C2351266", "MESH:C526436"], "information_content": 100.0}
{"id": "UniProtKB:Q8ND76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-Y isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8ND76-1", "PR:Q8ND76-1", "ENSEMBL:ENSP00000363836", "ENSEMBL:ENSP00000363836.4"], "information_content": 100.0}
{"id": "NCBIGene:1302", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL11A2", "equivalent_identifiers": ["NCBIGene:1302", "ENSEMBL:ENSG00000204248", "HGNC:2187", "OMIM:120290", "UMLS:C1413571", "UniProtKB:A0A0C4DFS1", "ENSEMBL:ENSP00000339915", "ENSEMBL:ENSP00000339915.2", "ENSEMBL:ENSP00000447062", "ENSEMBL:ENSP00000447062.1", "UMLS:C1506540", "MESH:C499319", "UniProtKB:A0A0G2JL35", "ENSEMBL:ENSP00000448701", "ENSEMBL:ENSP00000448701.1", "ENSEMBL:ENSP00000448931", "ENSEMBL:ENSP00000448931.1", "UniProtKB:A0A0G2JL78", "ENSEMBL:ENSP00000446870", "ENSEMBL:ENSP00000446870.1", "ENSEMBL:ENSP00000450046", "ENSEMBL:ENSP00000450046.1", "ENSEMBL:ENSP00000450084", "ENSEMBL:ENSP00000450084.1", "UniProtKB:A0A140TA43", "ENSEMBL:ENSP00000448715", "ENSEMBL:ENSP00000448715.1", "UniProtKB:P13942", "PR:P13942", "UniProtKB:Q4VXY6", "ENSEMBL:ENSP00000363840", "ENSEMBL:ENSP00000363840.4", "ENSEMBL:ENSP00000372706", "ENSEMBL:ENSP00000372706.2", "ENSEMBL:ENSP00000388309", "ENSEMBL:ENSP00000388309.1", "ENSEMBL:ENSP00000408627", "ENSEMBL:ENSP00000408627.1"]}
{"id": "MONDO:0011715", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 2", "equivalent_identifiers": ["MONDO:0011715", "DOID:0070013", "OMIM:606744", "UMLS:C1847572", "MESH:C537534", "medgen:338264"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWI5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choline transporter-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWI5-1", "PR:Q8WWI5-1", "ENSEMBL:ENSP00000363852", "ENSEMBL:ENSP00000363852.3", "ENSEMBL:ENSP00000433072", "ENSEMBL:ENSP00000433072.1"], "information_content": 100.0}
{"id": "NCBIGene:19", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABCA1", "equivalent_identifiers": ["NCBIGene:19", "ENSEMBL:ENSG00000165029", "HGNC:29", "OMIM:600046", "UMLS:C1412058", "UniProtKB:B2RUU2", "UniProtKB:B7XCW9", "UniProtKB:O95477", "PR:O95477", "ENSEMBL:ENSP00000363868", "ENSEMBL:ENSP00000363868.3", "UMLS:C3711161", "MESH:C577836"], "information_content": 84.2}
{"id": "UniProtKB:Q9Y279-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-set and immunoglobulin domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y279-1", "PR:Q9Y279-1", "ENSEMBL:ENSP00000363869", "ENSEMBL:ENSP00000363869.4"], "information_content": 100.0}
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{"id": "UniProtKB:Q9HBR0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 38 member 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBR0-1", "PR:Q9HBR0-1", "ENSEMBL:ENSP00000363891", "ENSEMBL:ENSP00000363891.3"], "information_content": 100.0}
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{"id": "NCBIGene:5909", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAP1GAP", "equivalent_identifiers": ["NCBIGene:5909", "ENSEMBL:ENSG00000076864", "HGNC:9858", "OMIM:600278", "UMLS:C1826766", "UniProtKB:P47736", "PR:P47736", "UMLS:C1436310", "MESH:C484658", "UniProtKB:X6R8W7", "ENSEMBL:ENSP00000363895", "ENSEMBL:ENSP00000363895.2"]}
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{"id": "NCBIGene:138799", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR13C5", "equivalent_identifiers": ["NCBIGene:138799", "ENSEMBL:ENSG00000277556", "HGNC:15100", "UMLS:C1423200", "UniProtKB:Q8NGS8", "PR:Q8NGS8", "ENSEMBL:ENSP00000363911", "ENSEMBL:ENSP00000363911.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TEW0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "partitioning defective 3 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEW0-1", "PR:Q8TEW0-1", "ENSEMBL:ENSP00000363921", "ENSEMBL:ENSP00000363921.3"], "information_content": 100.0}
{"id": "NCBIGene:23054", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCOA6", "equivalent_identifiers": ["NCBIGene:23054", "ENSEMBL:ENSG00000198646", "HGNC:15936", "OMIM:605299", "UMLS:C1367177", "UniProtKB:F6M2K2", "ENSEMBL:ENSP00000481177", "ENSEMBL:ENSP00000481177.1", "UniProtKB:F6M2K3", "UniProtKB:Q14686", "PR:Q14686", "ENSEMBL:ENSP00000351894", "ENSEMBL:ENSP00000351894.2", "ENSEMBL:ENSP00000363929", "ENSEMBL:ENSP00000363929.2", "UMLS:C0915178", "MESH:C486559"], "information_content": 92.8}
{"id": "NCBIGene:58476", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TP53INP2", "equivalent_identifiers": ["NCBIGene:58476", "ENSEMBL:ENSG00000078804", "HGNC:16104", "OMIM:617549", "UMLS:C1540040", "UniProtKB:Q8IXH6", "PR:Q8IXH6", "ENSEMBL:ENSP00000363942", "ENSEMBL:ENSP00000363942.2", "ENSEMBL:ENSP00000363943", "ENSEMBL:ENSP00000363943.3", "UMLS:C1570137", "MESH:C501283"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4W2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal biogenesis protein LAS1L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4W2-1", "PR:Q9Y4W2-1", "ENSEMBL:ENSP00000363944", "ENSEMBL:ENSP00000363944.3"], "information_content": 100.0}
{"id": "MONDO:0060585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 9", "equivalent_identifiers": ["MONDO:0060585", "DOID:0111212", "OMIM:617721", "UMLS:C4540265", "medgen:1617571"], "information_content": 100.0}
{"id": "UniProtKB:Q9H492-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-associated protein 1 light chain 3 alpha isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H492-2", "PR:Q9H492-2", "ENSEMBL:ENSP00000363970", "ENSEMBL:ENSP00000363970.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQZ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger C4H2 domain-containing protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQZ6-1", "PR:Q9NQZ6-1", "ENSEMBL:ENSP00000363972", "ENSEMBL:ENSP00000363972.3"], "information_content": 100.0}
{"id": "MONDO:0014229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microphthalmia, syndromic 12", "equivalent_identifiers": ["MONDO:0014229", "DOID:0111800", "OMIM:615524", "orphanet:689829", "UMLS:C3809803", "medgen:816133"], "information_content": 100.0}
{"id": "UniProtKB:P05186-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alkaline phosphatase, tissue-nonspecific isozyme isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P05186-1", "PR:P05186-1", "ENSEMBL:ENSP00000363965", "ENSEMBL:ENSP00000363965.1", "ENSEMBL:ENSP00000363973", "ENSEMBL:ENSP00000363973.3"], "information_content": 100.0}
{"id": "NCBIGene:3108", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLA-DMA", "equivalent_identifiers": ["NCBIGene:3108", "ENSEMBL:ENSG00000204257", "HGNC:4934", "OMIM:142855", "UMLS:C1415563", "UniProtKB:P28067", "PR:P28067", "ENSEMBL:ENSP00000363976", "ENSEMBL:ENSP00000363976.4", "ENSEMBL:ENSP00000372717", "ENSEMBL:ENSP00000372717.4", "ENSEMBL:ENSP00000392842", "ENSEMBL:ENSP00000392842.2", "ENSEMBL:ENSP00000395349", "ENSEMBL:ENSP00000395349.2", "ENSEMBL:ENSP00000404018", "ENSEMBL:ENSP00000404018.2", "ENSEMBL:ENSP00000407198", "ENSEMBL:ENSP00000407198.2", "ENSEMBL:ENSP00000410591", "ENSEMBL:ENSP00000410591.2", "UMLS:C4724241", "UniProtKB:Q31604", "UniProtKB:Q6ICR9"], "information_content": 87.2}
{"id": "NCBIGene:84302", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGAP4", "equivalent_identifiers": ["NCBIGene:84302", "ENSEMBL:ENSG00000165152", "HGNC:28180", "OMIM:620264", "UMLS:C3470105", "UniProtKB:Q9BRR3", "PR:Q9BRR3", "ENSEMBL:ENSP00000363980", "ENSEMBL:ENSP00000363980.1", "ENSEMBL:ENSP00000363981", "ENSEMBL:ENSP00000363981.3", "ENSEMBL:ENSP00000363984", "ENSEMBL:ENSP00000363984.1"], "information_content": 95.4}
{"id": "UniProtKB:Q96EF0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EF0-1", "PR:Q96EF0-1", "ENSEMBL:ENSP00000363985", "ENSEMBL:ENSP00000363985.3"], "information_content": 100.0}
{"id": "UniProtKB:P28065-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome subunit beta type-9 isoform LMP2.L (human)", "equivalent_identifiers": ["UniProtKB:P28065-1", "PR:P28065-1", "ENSEMBL:ENSP00000363993", "ENSEMBL:ENSP00000363993.2", "ENSEMBL:ENSP00000372595", "ENSEMBL:ENSP00000372595.4", "ENSEMBL:ENSP00000372721", "ENSEMBL:ENSP00000372721.4", "ENSEMBL:ENSP00000396813", "ENSEMBL:ENSP00000396813.2", "ENSEMBL:ENSP00000407233", "ENSEMBL:ENSP00000407233.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5N7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein mL50 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5N7-1", "PR:Q8N5N7-1", "ENSEMBL:ENSP00000363999", "ENSEMBL:ENSP00000363999.4"], "information_content": 100.0}
{"id": "NCBIGene:1290", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL5A2", "equivalent_identifiers": ["NCBIGene:1290", "ENSEMBL:ENSG00000204262", "HGNC:2210", "OMIM:120190", "UMLS:C1413588", "UniProtKB:P05997", "PR:P05997", "ENSEMBL:ENSP00000364000", "ENSEMBL:ENSP00000364000.3", "UMLS:C5444636"], "information_content": 81.3}
{"id": "UniProtKB:Q5JTC6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "APC membrane recruitment protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JTC6-1", "PR:Q5JTC6-1", "ENSEMBL:ENSP00000364003", "ENSEMBL:ENSP00000364003.4"], "information_content": 100.0}
{"id": "NCBIGene:54886", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLPPR1", "equivalent_identifiers": ["NCBIGene:54886", "ENSEMBL:ENSG00000148123", "HGNC:25993", "OMIM:619590", "UMLS:C4085760", "UniProtKB:Q8TBJ4", "PR:Q8TBJ4", "ENSEMBL:ENSP00000364008", "ENSEMBL:ENSP00000364008.3", "ENSEMBL:ENSP00000378496", "ENSEMBL:ENSP00000378496.1", "ENSEMBL:ENSP00000477959", "ENSEMBL:ENSP00000477959.1", "ENSEMBL:ENSP00000478338", "ENSEMBL:ENSP00000478338.1", "UMLS:C1451915", "MESH:C486235"], "information_content": 95.4}
{"id": "UniProtKB:P28062-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome subunit beta type-8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P28062-1", "PR:P28062-1", "ENSEMBL:ENSP00000364016", "ENSEMBL:ENSP00000364016.4", "ENSEMBL:ENSP00000372723", "ENSEMBL:ENSP00000372723.4", "ENSEMBL:ENSP00000394155", "ENSEMBL:ENSP00000394155.2", "ENSEMBL:ENSP00000402406", "ENSEMBL:ENSP00000402406.2", "ENSEMBL:ENSP00000404585", "ENSEMBL:ENSP00000404585.2", "ENSEMBL:ENSP00000406797", "ENSEMBL:ENSP00000406797.2", "ENSEMBL:ENSP00000414770", "ENSEMBL:ENSP00000414770.2"], "information_content": 100.0}
{"id": "NCBIGene:139886", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPIN4", "equivalent_identifiers": ["NCBIGene:139886", "ENSEMBL:ENSG00000186767", "HGNC:27040", "OMIM:301113", "UMLS:C2240042", "UniProtKB:Q56A73", "PR:Q56A73", "ENSEMBL:ENSP00000364018", "ENSEMBL:ENSP00000364018.3"], "information_content": 95.4}
{"id": "NCBIGene:158586", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZXDB", "equivalent_identifiers": ["NCBIGene:158586", "ENSEMBL:ENSG00000198455", "HGNC:13199", "OMIM:300236", "UMLS:C1421873", "UniProtKB:P98169", "PR:P98169", "ENSEMBL:ENSP00000364023", "ENSEMBL:ENSP00000364023.1"], "information_content": 100.0}
{"id": "MONDO:0009950", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate kinase deficiency of red cells", "equivalent_identifiers": ["MONDO:0009950", "DOID:0111077", "OMIM:266200", "orphanet:766", "UMLS:C0340968", "MESH:C564858", "NCIT:C99037", "SNOMEDCT:124331002", "medgen:473069"], "information_content": 100.0}
{"id": "UniProtKB:P42892-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endothelin-converting enzyme 1 isoform B (human)", "equivalent_identifiers": ["UniProtKB:P42892-1", "PR:P42892-1", "ENSEMBL:ENSP00000364028", "ENSEMBL:ENSP00000364028.6"], "information_content": 100.0}
{"id": "UniProtKB:Q03519-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "antigen peptide transporter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q03519-1", "PR:Q03519-1", "ENSEMBL:ENSP00000364032", "ENSEMBL:ENSP00000364032.3", "ENSEMBL:ENSP00000372599", "ENSEMBL:ENSP00000372599.4", "ENSEMBL:ENSP00000372726", "ENSEMBL:ENSP00000372726.4", "ENSEMBL:ENSP00000394101", "ENSEMBL:ENSP00000394101.2", "ENSEMBL:ENSP00000513722", "ENSEMBL:ENSP00000513722.1", "ENSEMBL:ENSP00000513733", "ENSEMBL:ENSP00000513733.1"], "information_content": 100.0}
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{"id": "NCBIGene:139793", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAGE3", "equivalent_identifiers": ["NCBIGene:139793", "ENSEMBL:ENSG00000204279", "HGNC:4110", "OMIM:300739", "UMLS:C1538568", "UniProtKB:Q5JUK9", "PR:Q5JUK9", "ENSEMBL:ENSP00000364089", "ENSEMBL:ENSP00000364089.1", "ENSEMBL:ENSP00000429571", "ENSEMBL:ENSP00000429571.1"], "information_content": 100.0}
{"id": "NCBIGene:203569", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAGE2", "equivalent_identifiers": ["NCBIGene:203569", "ENSEMBL:ENSG00000234068", "HGNC:31804", "OMIM:300738", "UMLS:C1538567", "UniProtKB:Q7Z2X7", "PR:Q7Z2X7", "ENSEMBL:ENSP00000364107", "ENSEMBL:ENSP00000364107.4", "UMLS:C4077692"], "information_content": 100.0}
{"id": "NCBIGene:389860", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAGE2B", "equivalent_identifiers": ["NCBIGene:389860", "ENSEMBL:ENSG00000238269", "HGNC:31805", "UMLS:C1826537", "UniProtKB:Q5JRK9", "PR:Q5JRK9", "ENSEMBL:ENSP00000364110", "ENSEMBL:ENSP00000364110.1"], "information_content": 100.0}
{"id": "NCBIGene:3127", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLA-DRB5", "equivalent_identifiers": ["NCBIGene:3127", "ENSEMBL:ENSG00000198502", "HGNC:4953", "OMIM:604776", "UMLS:C1415580", "UniProtKB:A0A2Z4LKS3", "UniProtKB:Q30154", "PR:Q30154", "ENSEMBL:ENSP00000364114", "ENSEMBL:ENSP00000364114.3", "UMLS:C0122044", "MESH:D059847"], "information_content": 92.8}
{"id": "MONDO:0010844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epiphyseal dysplasia, multiple, 2", "equivalent_identifiers": ["MONDO:0010844", "DOID:0070298", "OMIM:600204", "UMLS:C1838429", "MESH:C535502", "medgen:333092"], "information_content": 100.0}
{"id": "UniProtKB:Q6P1R3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Myb/SANT-like DNA-binding domain-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P1R3-1", "PR:Q6P1R3-1", "ENSEMBL:ENSP00000364118", "ENSEMBL:ENSP00000364118.3"], "information_content": 100.0}
{"id": "MONDO:0013392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spinocerebellar ataxia 10", "equivalent_identifiers": ["MONDO:0013392", "DOID:0050999", "OMIM:613728", "orphanet:284289", "UMLS:C3150998", "SNOMEDCT:785302009", "medgen:462348"], "information_content": 100.0}
{"id": "NCBIGene:8894", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF2S2", "equivalent_identifiers": ["NCBIGene:8894", "ENSEMBL:ENSG00000125977", "HGNC:3266", "OMIM:603908", "UMLS:C1414335", "UniProtKB:P20042", "PR:P20042", "ENSEMBL:ENSP00000364119", "ENSEMBL:ENSP00000364119.2", "UniProtKB:Q6IBR8"], "information_content": 85.5}
{"id": "NCBIGene:27301", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APEX2", "equivalent_identifiers": ["NCBIGene:27301", "ENSEMBL:ENSG00000169188", "HGNC:17889", "OMIM:300773", "UMLS:C1425157", "UniProtKB:B4DWI9", "UniProtKB:B7ZA71", "UniProtKB:E5KN95", "UniProtKB:Q9UBZ4", "PR:Q9UBZ4", "ENSEMBL:ENSP00000364126", "ENSEMBL:ENSP00000364126.3", "UMLS:C1506647", "MESH:C530688"], "information_content": 95.4}
{"id": "NCBIGene:1306", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL15A1", "equivalent_identifiers": ["NCBIGene:1306", "ENSEMBL:ENSG00000204291", "HGNC:2192", "OMIM:120325", "UMLS:C1413575", "UniProtKB:B3KTP7", "UMLS:C0251813", "MESH:C085811", "UniProtKB:P39059", "PR:P39059", "ENSEMBL:ENSP00000364140", "ENSEMBL:ENSP00000364140.3"], "information_content": 77.1}
{"id": "UniProtKB:P16118-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P16118-1", "PR:P16118-1", "ENSEMBL:ENSP00000364145", "ENSEMBL:ENSP00000364145.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXK2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypeptide N-acetylgalactosaminyltransferase 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXK2-1", "PR:Q8IXK2-1", "ENSEMBL:ENSP00000364150", "ENSEMBL:ENSP00000364150.3"], "information_content": 100.0}
{"id": "UniProtKB:Q99466-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurogenic locus notch homolog protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99466-1", "PR:Q99466-1", "ENSEMBL:ENSP00000364163", "ENSEMBL:ENSP00000364163.3", "ENSEMBL:ENSP00000403447", "ENSEMBL:ENSP00000403447.2"], "information_content": 100.0}
{"id": "NCBIGene:338661", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM225", "equivalent_identifiers": ["NCBIGene:338661", "ENSEMBL:ENSG00000204300", "HGNC:32390", "UMLS:C2680489", "UniProtKB:Q6GV28", "PR:Q6GV28", "ENSEMBL:ENSP00000364166", "ENSEMBL:ENSP00000364166.2"], "information_content": 100.0}
{"id": "NCBIGene:63940", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPSM3", "equivalent_identifiers": ["NCBIGene:63940", "ENSEMBL:ENSG00000213654", "HGNC:13945", "OMIM:618558", "UMLS:C1422292", "UniProtKB:A0A024RCP6", "UMLS:C1452897", "MESH:C487218", "UniProtKB:Q9Y4H4", "PR:Q9Y4H4", "ENSEMBL:ENSP00000364180", "ENSEMBL:ENSP00000364180.3", "ENSEMBL:ENSP00000364183", "ENSEMBL:ENSP00000364183.3", "ENSEMBL:ENSP00000372752", "ENSEMBL:ENSP00000372752.4", "ENSEMBL:ENSP00000372756", "ENSEMBL:ENSP00000372756.2", "ENSEMBL:ENSP00000392487", "ENSEMBL:ENSP00000392487.2", "ENSEMBL:ENSP00000396786", "ENSEMBL:ENSP00000396786.1", "ENSEMBL:ENSP00000403132", "ENSEMBL:ENSP00000403132.1", "ENSEMBL:ENSP00000405026", "ENSEMBL:ENSP00000405026.2", "ENSEMBL:ENSP00000407538", "ENSEMBL:ENSP00000407538.1", "ENSEMBL:ENSP00000410087", "ENSEMBL:ENSP00000410087.1", "ENSEMBL:ENSP00000413430", "ENSEMBL:ENSP00000413430.2", "ENSEMBL:ENSP00000413975", "ENSEMBL:ENSP00000413975.1", "ENSEMBL:ENSP00000414024", "ENSEMBL:ENSP00000414024.2", "ENSEMBL:ENSP00000414939", "ENSEMBL:ENSP00000414939.2"], "information_content": 92.8}
{"id": "NCBIGene:5089", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PBX2", "equivalent_identifiers": ["NCBIGene:5089", "ENSEMBL:ENSG00000204304", "HGNC:8633", "OMIM:176311", "UMLS:C1418286", "UniProtKB:A0A024RCR3", "UMLS:C1448864", "MESH:C090465", "UniProtKB:P40425", "PR:P40425", "ENSEMBL:ENSP00000364190", "ENSEMBL:ENSP00000364190.3", "ENSEMBL:ENSP00000372757", "ENSEMBL:ENSP00000372757.4", "ENSEMBL:ENSP00000390009", "ENSEMBL:ENSP00000390009.2", "ENSEMBL:ENSP00000391745", "ENSEMBL:ENSP00000391745.2", "ENSEMBL:ENSP00000397177", "ENSEMBL:ENSP00000397177.2", "ENSEMBL:ENSP00000403948", "ENSEMBL:ENSP00000403948.2", "ENSEMBL:ENSP00000410710", "ENSEMBL:ENSP00000410710.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNF1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanoma-associated antigen D2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNF1-1", "PR:Q9UNF1-1", "ENSEMBL:ENSP00000218439", "ENSEMBL:ENSP00000218439.4", "ENSEMBL:ENSP00000364193", "ENSEMBL:ENSP00000364193.2", "ENSEMBL:ENSP00000364198", "ENSEMBL:ENSP00000364198.1", "ENSEMBL:ENSP00000364209", "ENSEMBL:ENSP00000364209.1", "ENSEMBL:ENSP00000379526", "ENSEMBL:ENSP00000379526.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXM7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase PINK1, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXM7-1", "PR:Q9BXM7-1", "ENSEMBL:ENSP00000364204", "ENSEMBL:ENSP00000364204.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15109-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "advanced glycosylation end product-specific receptor isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q15109-6", "PR:Q15109-6", "ENSEMBL:ENSP00000364210", "ENSEMBL:ENSP00000364210.4", "ENSEMBL:ENSP00000447301", "ENSEMBL:ENSP00000447301.2", "ENSEMBL:ENSP00000448579", "ENSEMBL:ENSP00000448579.2", "ENSEMBL:ENSP00000448979", "ENSEMBL:ENSP00000448979.2", "ENSEMBL:ENSP00000450134", "ENSEMBL:ENSP00000450134.2"], "information_content": 100.0}
{"id": "NCBIGene:978", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDA", "equivalent_identifiers": ["NCBIGene:978", "ENSEMBL:ENSG00000158825", "HGNC:1712", "OMIM:123920", "UMLS:C1413247", "UniProtKB:P32320", "PR:P32320", "ENSEMBL:ENSP00000364212", "ENSEMBL:ENSP00000364212.3", "UMLS:C5441696"], "information_content": 95.4}
{"id": "NCBIGene:55450", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAMK2N1", "equivalent_identifiers": ["NCBIGene:55450", "ENSEMBL:ENSG00000162545", "HGNC:24190", "OMIM:614986", "UMLS:C1824522", "UniProtKB:Q7Z7J9", "PR:Q7Z7J9", "ENSEMBL:ENSP00000364219", "ENSEMBL:ENSP00000364219.3", "UMLS:C2354493", "UMLS:C3542913", "MESH:C529569"], "information_content": 95.4}
{"id": "UniProtKB:Q5TIE3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "von Willebrand factor A domain-containing protein 5B1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TIE3-1", "PR:Q5TIE3-1", "ENSEMBL:ENSP00000364220", "ENSEMBL:ENSP00000364220.1"], "information_content": 100.0}
{"id": "NCBIGene:6048", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF5", "equivalent_identifiers": ["NCBIGene:6048", "ENSEMBL:ENSG00000204308", "HGNC:10068", "OMIM:602677", "UMLS:C1419426", "UniProtKB:A0A024RCQ4", "UniProtKB:Q99942", "PR:Q99942", "ENSEMBL:ENSP00000364235", "ENSEMBL:ENSP00000364235.3", "ENSEMBL:ENSP00000387879", "ENSEMBL:ENSP00000387879.2", "ENSEMBL:ENSP00000388795", "ENSEMBL:ENSP00000388795.2", "ENSEMBL:ENSP00000401172", "ENSEMBL:ENSP00000401172.2", "ENSEMBL:ENSP00000413131", "ENSEMBL:ENSP00000413131.2", "ENSEMBL:ENSP00000415127", "ENSEMBL:ENSP00000415127.2", "ENSEMBL:ENSP00000415784", "ENSEMBL:ENSP00000415784.2", "UMLS:C1308468", "MESH:C111501"], "information_content": 92.8}
{"id": "NCBIGene:127733", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBXN10", "equivalent_identifiers": ["NCBIGene:127733", "ENSEMBL:ENSG00000162543", "HGNC:26354", "OMIM:616783", "UMLS:C1428576", "UniProtKB:Q96LJ8", "PR:Q96LJ8", "ENSEMBL:ENSP00000364240", "ENSEMBL:ENSP00000364240.3", "UMLS:C4078107", "MESH:C000604314"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZM2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "group IIF secretory phospholipase A2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZM2-2", "PR:Q9BZM2-2", "ENSEMBL:ENSP00000364243", "ENSEMBL:ENSP00000364243.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNK4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "group IID secretory phospholipase A2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNK4-1", "PR:Q9UNK4-1", "ENSEMBL:ENSP00000364246", "ENSEMBL:ENSP00000364246.3"], "information_content": 100.0}
{"id": "NCBIGene:5322", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLA2G5", "equivalent_identifiers": ["NCBIGene:5322", "ENSEMBL:ENSG00000127472", "HGNC:9038", "OMIM:601192", "UMLS:C1418623", "UniProtKB:P39877", "PR:P39877", "ENSEMBL:ENSP00000364249", "ENSEMBL:ENSP00000364249.3", "UMLS:C1873325", "MESH:C516299"], "information_content": 95.4}
{"id": "NCBIGene:30814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLA2G2E", "equivalent_identifiers": ["NCBIGene:30814", "ENSEMBL:ENSG00000188784", "HGNC:13414", "OMIM:618320", "UMLS:C1421980", "UniProtKB:Q9NZK7", "PR:Q9NZK7", "ENSEMBL:ENSP00000364257", "ENSEMBL:ENSP00000364257.3"], "information_content": 92.8}
{"id": "NCBIGene:51531", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRMO", "equivalent_identifiers": ["NCBIGene:51531", "ENSEMBL:ENSG00000136932", "HGNC:30967", "UMLS:C1538370", "UniProtKB:Q5T114", "ENSEMBL:ENSP00000364259", "ENSEMBL:ENSP00000364259.1", "UMLS:C1447848", "MESH:C498548", "UniProtKB:Q9BU70", "PR:Q9BU70", "ENSEMBL:ENSP00000364260", "ENSEMBL:ENSP00000364260.3"], "information_content": 100.0}
{"id": "NCBIGene:23252", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTUD3", "equivalent_identifiers": ["NCBIGene:23252", "ENSEMBL:ENSG00000169914", "HGNC:29038", "OMIM:611758", "UMLS:C1826519", "UniProtKB:Q5T2D3", "PR:Q5T2D3", "ENSEMBL:ENSP00000364261", "ENSEMBL:ENSP00000364261.3", "UMLS:C4079690", "MESH:C000602831"], "information_content": 100.0}
{"id": "NCBIGene:54546", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF186", "equivalent_identifiers": ["NCBIGene:54546", "ENSEMBL:ENSG00000178828", "HGNC:25978", "OMIM:617163", "UMLS:C1538874", "UniProtKB:Q9NXI6", "PR:Q9NXI6", "ENSEMBL:ENSP00000364263", "ENSEMBL:ENSP00000364263.2", "UMLS:C3851058", "MESH:C587047"], "information_content": 95.4}
{"id": "NCBIGene:2304", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXE1", "equivalent_identifiers": ["NCBIGene:2304", "ENSEMBL:ENSG00000178919", "HGNC:3806", "OMIM:602617", "UMLS:C1414674", "UniProtKB:O00358", "PR:O00358", "ENSEMBL:ENSP00000364265", "ENSEMBL:ENSP00000364265.3", "UMLS:C0540850", "MESH:C106894"], "information_content": 100.0}
{"id": "NCBIGene:7507", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XPA", "equivalent_identifiers": ["NCBIGene:7507", "ENSEMBL:ENSG00000136936", "HGNC:12814", "OMIM:611153", "UMLS:C1337030", "UniProtKB:P23025", "PR:P23025", "ENSEMBL:ENSP00000364270", "ENSEMBL:ENSP00000364270.5", "UMLS:C1506533", "MESH:C497314"], "information_content": 90.9}
{"id": "NCBIGene:2245", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGD1", "equivalent_identifiers": ["NCBIGene:2245", "ENSEMBL:ENSG00000102302", "HGNC:3663", "OMIM:300546", "UMLS:C1414594", "UniProtKB:P98174", "PR:P98174", "ENSEMBL:ENSP00000364277", "ENSEMBL:ENSP00000364277.3", "UMLS:C1454448", "MESH:C490796"], "information_content": 100.0}
{"id": "NCBIGene:4686", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCBP1", "equivalent_identifiers": ["NCBIGene:4686", "ENSEMBL:ENSG00000136937", "HGNC:7658", "OMIM:600469", "UMLS:C1417606", "UniProtKB:Q09161", "PR:Q09161", "ENSEMBL:ENSP00000364289", "ENSEMBL:ENSP00000364289.3"], "information_content": 88.2}
{"id": "NCBIGene:90121", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSR2", "equivalent_identifiers": ["NCBIGene:90121", "ENSEMBL:ENSG00000158526", "HGNC:25455", "OMIM:300945", "UMLS:C1823523", "UniProtKB:Q969E8", "PR:Q969E8", "ENSEMBL:ENSP00000364293", "ENSEMBL:ENSP00000364293.4", "UMLS:C3178609", "MESH:C560781"], "information_content": 90.9}
{"id": "UniProtKB:Q6ZP29-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal amino acid transporter 1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZP29-1", "PR:Q6ZP29-1", "ENSEMBL:ENSP00000364295", "ENSEMBL:ENSP00000364295.3", "ENSEMBL:ENSP00000364297", "ENSEMBL:ENSP00000364297.3"], "information_content": 100.0}
{"id": "MONDO:0012078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 3", "equivalent_identifiers": ["MONDO:0012078", "DOID:0110998", "OMIM:608629", "UMLS:C1837713", "MESH:C536295", "NCIT:C148259", "medgen:332931"], "information_content": 100.0}
{"id": "NCBIGene:63943", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FKBPL", "equivalent_identifiers": ["NCBIGene:63943", "ENSEMBL:ENSG00000204315", "HGNC:13949", "OMIM:617076", "UMLS:C1422296", "UniProtKB:A0A024RCQ6", "UMLS:C0909985", "MESH:C400101", "UniProtKB:Q9UIM3", "PR:Q9UIM3", "ENSEMBL:ENSP00000364298", "ENSEMBL:ENSP00000364298.3", "ENSEMBL:ENSP00000397530", "ENSEMBL:ENSP00000397530.2", "ENSEMBL:ENSP00000398812", "ENSEMBL:ENSP00000398812.2", "ENSEMBL:ENSP00000412439", "ENSEMBL:ENSP00000412439.2", "UMLS:C3273313"], "information_content": 100.0}
{"id": "NCBIGene:51154", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRTO4", "equivalent_identifiers": ["NCBIGene:51154", "ENSEMBL:ENSG00000053372", "HGNC:18477", "OMIM:620476", "UMLS:C1826303", "UniProtKB:Q9UKD2", "PR:Q9UKD2", "ENSEMBL:ENSP00000364320", "ENSEMBL:ENSP00000364320.3", "UMLS:C2934436", "MESH:C549920"], "information_content": 90.9}
{"id": "UniProtKB:Q9NX05-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "constitutive coactivator of PPAR-gamma-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NX05-1", "PR:Q9NX05-1", "ENSEMBL:ENSP00000364324", "ENSEMBL:ENSP00000364324.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYN7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 341 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYN7-1", "PR:Q9BYN7-1", "ENSEMBL:ENSP00000364346", "ENSEMBL:ENSP00000364346.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99941-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic AMP-dependent transcription factor ATF-6 beta isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99941-1", "PR:Q99941-1", "ENSEMBL:ENSP00000293709", "ENSEMBL:ENSP00000293709.6", "ENSEMBL:ENSP00000364349", "ENSEMBL:ENSP00000364349.3", "ENSEMBL:ENSP00000404725", "ENSEMBL:ENSP00000404725.2", "ENSEMBL:ENSP00000404814", "ENSEMBL:ENSP00000404814.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYL2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 20 isoform ZAKalpha (human)", "equivalent_identifiers": ["UniProtKB:Q9NYL2-1", "PR:Q9NYL2-1", "ENSEMBL:ENSP00000364361", "ENSEMBL:ENSP00000364361.3", "ENSEMBL:ENSP00000387259", "ENSEMBL:ENSP00000387259.2"], "information_content": 100.0}
{"id": "UniProtKB:Q12767-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 94 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q12767-3", "PR:Q12767-3", "ENSEMBL:ENSP00000364397", "ENSEMBL:ENSP00000364397.5"], "information_content": 100.0}
{"id": "UniProtKB:Q5T4S7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase UBR4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T4S7-1", "PR:Q5T4S7-1", "ENSEMBL:ENSP00000364403", "ENSEMBL:ENSP00000364403.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5H9S7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DDB1- and CUL4-associated factor 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5H9S7-1", "PR:Q5H9S7-1", "ENSEMBL:ENSP00000364404", "ENSEMBL:ENSP00000364404.3"], "information_content": 100.0}
{"id": "UniProtKB:Q7RTV3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 367 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTV3-1", "PR:Q7RTV3-1", "ENSEMBL:ENSP00000364405", "ENSEMBL:ENSP00000364405.4"], "information_content": 100.0}
{"id": "UniProtKB:P37058-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "17-beta-hydroxysteroid dehydrogenase type 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P37058-1", "PR:P37058-1", "ENSEMBL:ENSP00000364412", "ENSEMBL:ENSP00000364412.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H1J1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of nonsense transcripts 3A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1J1-1", "PR:Q9H1J1-1", "ENSEMBL:ENSP00000364448", "ENSEMBL:ENSP00000364448.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2K2-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase SIK3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2K2-5", "PR:Q9Y2K2-5", "ENSEMBL:ENSP00000364449", "ENSEMBL:ENSP00000364449.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6M6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aminopeptidase O isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6M6-1", "PR:Q8N6M6-1", "ENSEMBL:ENSP00000364464", "ENSEMBL:ENSP00000364464.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z4W2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysozyme-like protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4W2-2", "PR:Q7Z4W2-2", "ENSEMBL:ENSP00000364467", "ENSEMBL:ENSP00000364467.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N443-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RIB43A-like with coiled-coils protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N443-1", "PR:Q8N443-1", "ENSEMBL:ENSP00000364476", "ENSEMBL:ENSP00000364476.3"], "information_content": 100.0}
{"id": "UniProtKB:P49842-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive serine/threonine-protein kinase 19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49842-1", "PR:P49842-1", "ENSEMBL:ENSP00000364482", "ENSEMBL:ENSP00000364482.4", "ENSEMBL:ENSP00000391798", "ENSEMBL:ENSP00000391798.2", "ENSEMBL:ENSP00000395864", "ENSEMBL:ENSP00000395864.2", "ENSEMBL:ENSP00000403479", "ENSEMBL:ENSP00000403479.2", "ENSEMBL:ENSP00000413766", "ENSEMBL:ENSP00000413766.2"], "information_content": 100.0}
{"id": "NCBIGene:8789", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBP2", "equivalent_identifiers": ["NCBIGene:8789", "ENSEMBL:ENSG00000130957", "HGNC:3607", "OMIM:603027", "UMLS:C1414545", "UniProtKB:O00757", "PR:O00757", "ENSEMBL:ENSP00000364486", "ENSEMBL:ENSP00000364486.3", "UMLS:C5226159", "MESH:C000633945"], "information_content": 92.8}
{"id": "UniProtKB:P30038-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30038-1", "PR:P30038-1", "ENSEMBL:ENSP00000290597", "ENSEMBL:ENSP00000290597.5", "ENSEMBL:ENSP00000364490", "ENSEMBL:ENSP00000364490.3"], "information_content": 100.0}
{"id": "NCBIGene:100131439", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD300LD", "equivalent_identifiers": ["NCBIGene:100131439", "ENSEMBL:ENSG00000204345", "HGNC:16848", "OMIM:616301", "UMLS:C2240359", "UniProtKB:Q6UXZ3", "PR:Q6UXZ3", "ENSEMBL:ENSP00000364501", "ENSEMBL:ENSP00000364501.1", "ENSEMBL:ENSP00000517559", "ENSEMBL:ENSP00000517559.1", "UMLS:C3492152", "MESH:C572120"], "information_content": 95.4}
{"id": "UniProtKB:Q9NQR9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glucose-6-phosphatase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQR9-1", "PR:Q9NQR9-1", "ENSEMBL:ENSP00000364512", "ENSEMBL:ENSP00000364512.3", "ENSEMBL:ENSP00000482583", "ENSEMBL:ENSP00000482583.1"], "information_content": 100.0}
{"id": "NCBIGene:388419", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BTBD17", "equivalent_identifiers": ["NCBIGene:388419", "ENSEMBL:ENSG00000204347", "HGNC:33758", "UMLS:C2681185", "UniProtKB:A6NE02", "PR:A6NE02", "ENSEMBL:ENSP00000364515", "ENSEMBL:ENSP00000364515.3"], "information_content": 95.4}
{"id": "UniProtKB:Q14186-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor Dp-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14186-1", "PR:Q14186-1", "ENSEMBL:ENSP00000364519", "ENSEMBL:ENSP00000364519.4"], "information_content": 100.0}
{"id": "NCBIGene:80834", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS1R2", "equivalent_identifiers": ["NCBIGene:80834", "ENSEMBL:ENSG00000179002", "HGNC:14905", "OMIM:606226", "UMLS:C1423042", "UniProtKB:Q8TE23", "PR:Q8TE23", "ENSEMBL:ENSP00000364520", "ENSEMBL:ENSP00000364520.3", "UMLS:C1569797"], "information_content": 92.8}
{"id": "UniProtKB:P23759-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paired box protein Pax-7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P23759-1", "PR:P23759-1", "ENSEMBL:ENSP00000364524", "ENSEMBL:ENSP00000364524.3"], "information_content": 100.0}
{"id": "MONDO:0002855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectomesenchymoma", "equivalent_identifiers": ["MONDO:0002855", "DOID:4055", "UMLS:C0431111", "NCIT:C4716", "SNOMEDCT:128750008", "SNOMEDCT:1295216003", "medgen:98123"], "information_content": 92.8}
{"id": "NCBIGene:57608", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JCAD", "equivalent_identifiers": ["NCBIGene:57608", "ENSEMBL:ENSG00000165757", "HGNC:29283", "OMIM:614398", "UMLS:C1428823", "UniProtKB:Q9P266", "PR:Q9P266", "ENSEMBL:ENSP00000364526", "ENSEMBL:ENSP00000364526.1", "UMLS:C5197486", "MESH:C000632511"], "information_content": 100.0}
{"id": "NCBIGene:6499", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SKIC2", "equivalent_identifiers": ["NCBIGene:6499", "ENSEMBL:ENSG00000204351", "HGNC:10898", "OMIM:600478", "UMLS:C1335829", "UniProtKB:A0A1U9X8J1", "UniProtKB:A0A8V8TLC0", "ENSEMBL:ENSP00000513454", "ENSEMBL:ENSP00000513454.1", "UniProtKB:H7C5N0", "ENSEMBL:ENSP00000420332", "ENSEMBL:ENSP00000420332.2", "UniProtKB:Q15477", "PR:Q15477", "ENSEMBL:ENSP00000364543", "ENSEMBL:ENSP00000364543.2", "ENSEMBL:ENSP00000372827", "ENSEMBL:ENSP00000372827.4", "ENSEMBL:ENSP00000394400", "ENSEMBL:ENSP00000394400.2", "ENSEMBL:ENSP00000399530", "ENSEMBL:ENSP00000399530.2", "ENSEMBL:ENSP00000400626", "ENSEMBL:ENSP00000400626.2", "ENSEMBL:ENSP00000412310", "ENSEMBL:ENSP00000412310.2", "UMLS:C1333948", "MESH:C114718"], "information_content": 92.8}
{"id": "UniProtKB:P41229-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase 5C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P41229-1", "PR:P41229-1", "ENSEMBL:ENSP00000364550", "ENSEMBL:ENSP00000364550.4"], "information_content": 100.0}
{"id": "NCBIGene:81569", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTL8", "equivalent_identifiers": ["NCBIGene:81569", "ENSEMBL:ENSG00000117148", "HGNC:24018", "OMIM:621132", "UMLS:C1825844", "UniProtKB:Q9H568", "PR:Q9H568", "ENSEMBL:ENSP00000364555", "ENSEMBL:ENSP00000364555.1", "ENSEMBL:ENSP00000481590", "ENSEMBL:ENSP00000481590.1", "UMLS:C5543814", "MESH:C000712792"], "information_content": 100.0}
{"id": "NCBIGene:158293", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM120AOS", "equivalent_identifiers": ["NCBIGene:158293", "ENSEMBL:ENSG00000188938", "HGNC:23389", "UMLS:C1825256", "UniProtKB:E9PCY8", "ENSEMBL:ENSP00000414298", "ENSEMBL:ENSP00000414298.1", "ENSEMBL:ENSP00000496904", "ENSEMBL:ENSP00000496904.1", "UniProtKB:Q5T036", "PR:Q5T036", "ENSEMBL:ENSP00000364561", "ENSEMBL:ENSP00000364561.5"], "information_content": 95.4}
{"id": "UniProtKB:Q8NDY3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive ADP-ribosyltransferase ARH2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDY3-1", "PR:Q8NDY3-1", "ENSEMBL:ENSP00000364567", "ENSEMBL:ENSP00000364567.3"], "information_content": 100.0}
{"id": "UniProtKB:P18615-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "negative elongation factor E isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P18615-1", "PR:P18615-1", "ENSEMBL:ENSP00000364578", "ENSEMBL:ENSP00000364578.3", "ENSEMBL:ENSP00000372660", "ENSEMBL:ENSP00000372660.4", "ENSEMBL:ENSP00000372834", "ENSEMBL:ENSP00000372834.4", "ENSEMBL:ENSP00000393005", "ENSEMBL:ENSP00000393005.2", "ENSEMBL:ENSP00000394879", "ENSEMBL:ENSP00000394879.2", "ENSEMBL:ENSP00000403623", "ENSEMBL:ENSP00000403623.2"], "information_content": 100.0}
{"id": "NCBIGene:55920", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RCC2", "equivalent_identifiers": ["NCBIGene:55920", "ENSEMBL:ENSG00000179051", "HGNC:30297", "OMIM:609587", "UMLS:C1826787", "UniProtKB:A0A024RAC5", "UMLS:C1311923", "MESH:C477650", "UniProtKB:Q9P258", "PR:Q9P258", "ENSEMBL:ENSP00000364582", "ENSEMBL:ENSP00000364582.3", "ENSEMBL:ENSP00000364585", "ENSEMBL:ENSP00000364585.4", "ENSEMBL:ENSP00000486099", "ENSEMBL:ENSP00000486099.1", "ENSEMBL:ENSP00000486447", "ENSEMBL:ENSP00000486447.1"], "information_content": 88.2}
{"id": "UniProtKB:Q13619-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cullin-4A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13619-1", "PR:Q13619-1", "ENSEMBL:ENSP00000364589", "ENSEMBL:ENSP00000364589.4"], "information_content": 100.0}
{"id": "NCBIGene:64061", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPYL2", "equivalent_identifiers": ["NCBIGene:64061", "ENSEMBL:ENSG00000184205", "HGNC:24358", "OMIM:300564", "UMLS:C1540100", "UniProtKB:Q9H2G4", "PR:Q9H2G4", "ENSEMBL:ENSP00000364591", "ENSEMBL:ENSP00000364591.4", "UMLS:C1448082", "UMLS:C3537388", "MESH:C432963"], "information_content": 100.0}
{"id": "NCBIGene:4814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NINJ1", "equivalent_identifiers": ["NCBIGene:4814", "ENSEMBL:ENSG00000131669", "HGNC:7824", "OMIM:602062", "UMLS:C1417728", "UniProtKB:Q92982", "PR:Q92982", "ENSEMBL:ENSP00000364595", "ENSEMBL:ENSP00000364595.4", "UMLS:C1436064", "MESH:C484438"], "information_content": 95.4}
{"id": "NCBIGene:23569", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PADI4", "equivalent_identifiers": ["NCBIGene:23569", "ENSEMBL:ENSG00000159339", "HGNC:18368", "OMIM:605347", "UMLS:C1425478", "UniProtKB:Q9UM07", "PR:Q9UM07", "ENSEMBL:ENSP00000364597", "ENSEMBL:ENSP00000364597.4", "ENSEMBL:ENSP00000487021", "ENSEMBL:ENSP00000487021.1", "UMLS:C1434089", "MESH:C000629235"], "information_content": 85.5}
{"id": "UniProtKB:Q9BQP9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BPI fold-containing family A member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQP9-1", "PR:Q9BQP9-1", "ENSEMBL:ENSP00000364603", "ENSEMBL:ENSP00000364603.3"], "information_content": 100.0}
{"id": "NCBIGene:51702", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PADI3", "equivalent_identifiers": ["NCBIGene:51702", "ENSEMBL:ENSG00000142619", "HGNC:18337", "OMIM:606755", "UMLS:C1425457", "UniProtKB:Q9ULW8", "PR:Q9ULW8", "ENSEMBL:ENSP00000364609", "ENSEMBL:ENSP00000364609.3", "ENSEMBL:ENSP00000486702", "ENSEMBL:ENSP00000486702.1", "UMLS:C4507024", "MESH:C000619078"], "information_content": 95.4}
{"id": "NCBIGene:29943", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PADI1", "equivalent_identifiers": ["NCBIGene:29943", "ENSEMBL:ENSG00000142623", "HGNC:18367", "OMIM:607934", "UMLS:C1425477", "UniProtKB:Q9ULC6", "PR:Q9ULC6", "ENSEMBL:ENSP00000364620", "ENSEMBL:ENSP00000364620.4", "ENSEMBL:ENSP00000485803", "ENSEMBL:ENSP00000485803.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96L08-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sushi domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96L08-1", "PR:Q96L08-1", "ENSEMBL:ENSP00000364621", "ENSEMBL:ENSP00000364621.3"], "information_content": 100.0}
{"id": "UniProtKB:P59827-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BPI fold-containing family B member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P59827-1", "PR:P59827-1", "ENSEMBL:ENSP00000364632", "ENSEMBL:ENSP00000364632.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2J8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-arginine deiminase type-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2J8-1", "PR:Q9Y2J8-1", "ENSEMBL:ENSP00000364635", "ENSEMBL:ENSP00000364635.4", "ENSEMBL:ENSP00000516860", "ENSEMBL:ENSP00000516860.1"], "information_content": 100.0}
{"id": "NCBIGene:10179", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBM7", "equivalent_identifiers": ["NCBIGene:10179", "ENSEMBL:ENSG00000076053", "HGNC:9904", "OMIM:612413", "UMLS:C1419302", "UniProtKB:G3V1T9", "ENSEMBL:ENSP00000445848", "ENSEMBL:ENSP00000445848.1", "UMLS:C4044890", "MESH:C000596172", "UniProtKB:J3KPD3", "ENSEMBL:ENSP00000364639", "ENSEMBL:ENSP00000364639.5", "UniProtKB:Q9Y580", "PR:Q9Y580", "ENSEMBL:ENSP00000439918", "ENSEMBL:ENSP00000439918.1"]}
{"id": "NCBIGene:359710", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BPIFB3", "equivalent_identifiers": ["NCBIGene:359710", "ENSEMBL:ENSG00000186190", "HGNC:16178", "OMIM:615717", "UMLS:C3469649", "UniProtKB:P59826", "PR:P59826", "ENSEMBL:ENSP00000364643", "ENSEMBL:ENSP00000364643.4", "UMLS:C4041920", "MESH:C000598890", "UniProtKB:Q14DE0"], "information_content": 100.0}
{"id": "NCBIGene:6390", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDHB", "equivalent_identifiers": ["NCBIGene:6390", "ENSEMBL:ENSG00000117118", "HGNC:10681", "OMIM:185470", "UMLS:C1419907", "UniProtKB:A0AAQ5BHD9", "ENSEMBL:ENSP00000519322", "ENSEMBL:ENSP00000519322.1", "UniProtKB:P21912", "PR:P21912", "ENSEMBL:ENSP00000364649", "ENSEMBL:ENSP00000364649.3", "UMLS:C1308226", "MESH:C108095"], "information_content": 95.4}
{"id": "UniProtKB:Q6UWQ5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysozyme-like protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWQ5-2", "PR:Q6UWQ5-2", "ENSEMBL:ENSP00000364650", "ENSEMBL:ENSP00000364650.3"], "information_content": 100.0}
{"id": "NCBIGene:494197", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPANXN5", "equivalent_identifiers": ["NCBIGene:494197", "ENSEMBL:ENSG00000204363", "HGNC:33178", "OMIM:300668", "UMLS:C1823088", "UniProtKB:Q5MJ07", "PR:Q5MJ07", "ENSEMBL:ENSP00000364661", "ENSEMBL:ENSP00000364661.3", "UMLS:C1958307", "UMLS:C2985388", "MESH:C521022"], "information_content": 100.0}
{"id": "NCBIGene:25805", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BAMBI", "equivalent_identifiers": ["NCBIGene:25805", "ENSEMBL:ENSG00000095739", "HGNC:30251", "OMIM:604444", "UMLS:C1428947", "UniProtKB:Q13145", "PR:Q13145", "ENSEMBL:ENSP00000364683", "ENSEMBL:ENSP00000364683.3", "UMLS:C1436698", "MESH:C485671"], "information_content": 92.8}
{"id": "UniProtKB:P55001-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microfibrillar-associated protein 2 isoform A (human)", "equivalent_identifiers": ["UniProtKB:P55001-1", "PR:P55001-1", "ENSEMBL:ENSP00000364685", "ENSEMBL:ENSP00000364685.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5TZA2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rootletin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TZA2-1", "PR:Q5TZA2-1", "ENSEMBL:ENSP00000364691", "ENSEMBL:ENSP00000364691.4"], "information_content": 100.0}
{"id": "NCBIGene:54829", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASPN", "equivalent_identifiers": ["NCBIGene:54829", "ENSEMBL:ENSG00000106819", "HGNC:14872", "OMIM:608135", "UMLS:C1423015", "UniProtKB:A0AAG2UW46", "ENSEMBL:ENSP00000518167", "ENSEMBL:ENSP00000518167.1", "UniProtKB:Q6P528", "UMLS:C1099224", "MESH:C439889", "UniProtKB:Q9BXN1", "PR:Q9BXN1", "ENSEMBL:ENSP00000364694", "ENSEMBL:ENSP00000364694.3"], "information_content": 95.4}
{"id": "UniProtKB:O14521-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14521-1", "PR:O14521-1", "ENSEMBL:ENSP00000364699", "ENSEMBL:ENSP00000364699.3"], "information_content": 100.0}
{"id": "NCBIGene:4958", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OMD", "equivalent_identifiers": ["NCBIGene:4958", "ENSEMBL:ENSG00000127083", "HGNC:8134", "OMIM:618926", "UMLS:C1417948", "UniProtKB:Q99983", "PR:Q99983", "ENSEMBL:ENSP00000364700", "ENSEMBL:ENSP00000364700.4", "ENSEMBL:ENSP00000516806", "ENSEMBL:ENSP00000516806.1", "UMLS:C1609959"], "information_content": 87.2}
{"id": "NCBIGene:2159", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "F10", "equivalent_identifiers": ["NCBIGene:2159", "ENSEMBL:ENSG00000126218", "HGNC:3528", "OMIM:613872", "UMLS:C1414497", "UniProtKB:P00742", "PR:P00742", "ENSEMBL:ENSP00000364709", "ENSEMBL:ENSP00000364709.3", "UMLS:C5552804", "UniProtKB:Q5JVE7", "UniProtKB:Q5JVE8", "ENSEMBL:ENSP00000364701", "ENSEMBL:ENSP00000364701.3"], "information_content": 74.9}
{"id": "NCBIGene:4969", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OGN", "equivalent_identifiers": ["NCBIGene:4969", "ENSEMBL:ENSG00000106809", "HGNC:8126", "OMIM:602383", "UMLS:C1417944", "UniProtKB:A8K0R3", "UMLS:C1621731", "MESH:C063488", "UniProtKB:B4DI63", "UniProtKB:P20774", "PR:P20774", "ENSEMBL:ENSP00000262551", "ENSEMBL:ENSP00000262551.4", "ENSEMBL:ENSP00000364711", "ENSEMBL:ENSP00000364711.5", "ENSEMBL:ENSP00000516801", "ENSEMBL:ENSP00000516801.1", "ENSEMBL:ENSP00000516802", "ENSEMBL:ENSP00000516802.1", "UniProtKB:Q7Z532"], "information_content": 84.2}
{"id": "NCBIGene:22919", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAPRE1", "equivalent_identifiers": ["NCBIGene:22919", "ENSEMBL:ENSG00000101367", "HGNC:6890", "OMIM:603108", "UMLS:C1334483", "UniProtKB:Q15691", "PR:Q15691", "ENSEMBL:ENSP00000364721", "ENSEMBL:ENSP00000364721.5", "UMLS:C1332099", "MESH:C500985"], "information_content": 92.8}
{"id": "UniProtKB:P08709-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coagulation factor VII isoform A (human)", "equivalent_identifiers": ["UniProtKB:P08709-1", "PR:P08709-1", "ENSEMBL:ENSP00000364731", "ENSEMBL:ENSP00000364731.3"], "information_content": 100.0}
{"id": "NCBIGene:54455", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXO42", "equivalent_identifiers": ["NCBIGene:54455", "ENSEMBL:ENSG00000037637", "HGNC:29249", "OMIM:609109", "UMLS:C1539496", "UniProtKB:Q6P3S6", "PR:Q6P3S6", "ENSEMBL:ENSP00000364742", "ENSEMBL:ENSP00000364742.3", "ENSEMBL:ENSP00000516839", "ENSEMBL:ENSP00000516839.1", "UMLS:C2717157", "MESH:C542109"], "information_content": 88.2}
{"id": "NCBIGene:79363", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPLANE2", "equivalent_identifiers": ["NCBIGene:79363", "ENSEMBL:ENSG00000132881", "HGNC:28127", "OMIM:620487", "UMLS:C1823709", "UniProtKB:Q9BU20", "PR:Q9BU20", "ENSEMBL:ENSP00000364749", "ENSEMBL:ENSP00000364749.2", "ENSEMBL:ENSP00000516858", "ENSEMBL:ENSP00000516858.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9HD64-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "X antigen family member 1 isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q9HD64-2", "PR:Q9HD64-2", "ENSEMBL:ENSP00000364752", "ENSEMBL:ENSP00000364752.1", "ENSEMBL:ENSP00000364766", "ENSEMBL:ENSP00000364766.1", "ENSEMBL:ENSP00000430130", "ENSEMBL:ENSP00000430130.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UX15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "layilin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UX15-1", "PR:Q6UX15-1", "ENSEMBL:ENSP00000364765", "ENSEMBL:ENSP00000364765.3"], "information_content": 100.0}
{"id": "NCBIGene:4758", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEU1", "equivalent_identifiers": ["NCBIGene:4758", "ENSEMBL:ENSG00000204386", "HGNC:7758", "OMIM:608272", "UMLS:C1417680", "UniProtKB:Q5JQI0", "UniProtKB:Q99519", "PR:Q99519", "ENSEMBL:ENSP00000229725", "ENSEMBL:ENSP00000229725.4", "ENSEMBL:ENSP00000364782", "ENSEMBL:ENSP00000364782.4", "ENSEMBL:ENSP00000399309", "ENSEMBL:ENSP00000399309.3", "ENSEMBL:ENSP00000401067", "ENSEMBL:ENSP00000401067.2", "ENSEMBL:ENSP00000403720", "ENSEMBL:ENSP00000403720.2", "ENSEMBL:ENSP00000408207", "ENSEMBL:ENSP00000408207.2", "ENSEMBL:ENSP00000408957", "ENSEMBL:ENSP00000408957.2", "ENSEMBL:ENSP00000409489", "ENSEMBL:ENSP00000409489.2", "UMLS:C1436326", "MESH:C486385"], "information_content": 89.4}
{"id": "NCBIGene:3376", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IARS1", "equivalent_identifiers": ["NCBIGene:3376", "ENSEMBL:ENSG00000196305", "HGNC:5330", "OMIM:600709", "UMLS:C1415832", "UniProtKB:A0A804HJN6", "ENSEMBL:ENSP00000507286", "ENSEMBL:ENSP00000507286.1", "ENSEMBL:ENSP00000507577", "ENSEMBL:ENSP00000507577.1", "ENSEMBL:ENSP00000516819", "ENSEMBL:ENSP00000516819.1", "ENSEMBL:ENSP00000516824", "ENSEMBL:ENSP00000516824.1", "UniProtKB:A0A804HL54", "ENSEMBL:ENSP00000508205", "ENSEMBL:ENSP00000508205.1", "ENSEMBL:ENSP00000516815", "ENSEMBL:ENSP00000516815.1", "UniProtKB:P41252", "PR:P41252", "ENSEMBL:ENSP00000364794", "ENSEMBL:ENSP00000364794.3", "ENSEMBL:ENSP00000406448", "ENSEMBL:ENSP00000406448.4", "ENSEMBL:ENSP00000507144", "ENSEMBL:ENSP00000507144.1", "ENSEMBL:ENSP00000516807", "ENSEMBL:ENSP00000516807.1", "ENSEMBL:ENSP00000516808", "ENSEMBL:ENSP00000516808.1", "ENSEMBL:ENSP00000516810", "ENSEMBL:ENSP00000516810.1", "UMLS:C5849088", "UniProtKB:Q6P0M4", "UniProtKB:Q7L4K8"], "information_content": 84.8}
{"id": "UniProtKB:P0DMV9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HS71B_HUMAN Heat shock 70 kDa protein 1B (sprot)", "equivalent_identifiers": ["UniProtKB:P0DMV9", "PR:P0DMV9", "ENSEMBL:ENSP00000364801", "ENSEMBL:ENSP00000364801.3", "ENSEMBL:ENSP00000375391", "ENSEMBL:ENSP00000375391.1", "ENSEMBL:ENSP00000375399", "ENSEMBL:ENSP00000375399.1", "ENSEMBL:ENSP00000393087", "ENSEMBL:ENSP00000393087.1", "ENSEMBL:ENSP00000403530", "ENSEMBL:ENSP00000403530.1"], "information_content": 89.4}
{"id": "UniProtKB:P0DMV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heat shock 70 kDa protein 1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0DMV8-1", "PR:P0DMV8-1", "ENSEMBL:ENSP00000364802", "ENSEMBL:ENSP00000364802.5", "ENSEMBL:ENSP00000404524", "ENSEMBL:ENSP00000404524.1", "ENSEMBL:ENSP00000406359", "ENSEMBL:ENSP00000406359.1", "ENSEMBL:ENSP00000408907", "ENSEMBL:ENSP00000408907.1"], "information_content": 100.0}
{"id": "NCBIGene:3305", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPA1L", "equivalent_identifiers": ["NCBIGene:3305", "ENSEMBL:ENSG00000204390", "HGNC:5234", "OMIM:140559", "UMLS:C1415757", "UniProtKB:A0A1U9X7W7", "UMLS:C2741785", "MESH:C543454", "UniProtKB:P34931", "PR:P34931", "ENSEMBL:ENSP00000364805", "ENSEMBL:ENSP00000364805.4", "ENSEMBL:ENSP00000372881", "ENSEMBL:ENSP00000372881.4", "ENSEMBL:ENSP00000396486", "ENSEMBL:ENSP00000396486.2", "ENSEMBL:ENSP00000408347", "ENSEMBL:ENSP00000408347.2"], "information_content": 87.2}
{"id": "NCBIGene:57819", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LSM2", "equivalent_identifiers": ["NCBIGene:57819", "ENSEMBL:ENSG00000204392", "HGNC:13940", "OMIM:607282", "UMLS:C1422288", "UniProtKB:Q9Y333", "PR:Q9Y333", "ENSEMBL:ENSP00000364813", "ENSEMBL:ENSP00000364813.5", "ENSEMBL:ENSP00000372883", "ENSEMBL:ENSP00000372883.4", "ENSEMBL:ENSP00000403345", "ENSEMBL:ENSP00000403345.2", "ENSEMBL:ENSP00000406280", "ENSEMBL:ENSP00000406280.2", "ENSEMBL:ENSP00000414006", "ENSEMBL:ENSP00000414006.2", "ENSEMBL:ENSP00000414634", "ENSEMBL:ENSP00000414634.2", "UMLS:C1308048", "MESH:C105367"], "information_content": 92.8}
{"id": "UniProtKB:P26640-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "valine--tRNA ligase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P26640-1", "PR:P26640-1", "ENSEMBL:ENSP00000211402", "ENSEMBL:ENSP00000211402.6", "ENSEMBL:ENSP00000364815", "ENSEMBL:ENSP00000364815.3", "ENSEMBL:ENSP00000403359", "ENSEMBL:ENSP00000403359.2"], "information_content": 100.0}
{"id": "UniProtKB:P51801-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chloride channel protein ClC-Kb isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51801-1", "PR:P51801-1", "ENSEMBL:ENSP00000364831", "ENSEMBL:ENSP00000364831.5", "ENSEMBL:ENSP00000506733", "ENSEMBL:ENSP00000506733.1", "ENSEMBL:ENSP00000506910", "ENSEMBL:ENSP00000506910.1", "ENSEMBL:ENSP00000507062", "ENSEMBL:ENSP00000507062.1", "ENSEMBL:ENSP00000507937", "ENSEMBL:ENSP00000507937.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXJ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Polycomb group protein ASXL1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXJ9-1", "PR:Q8IXJ9-1", "ENSEMBL:ENSP00000364839", "ENSEMBL:ENSP00000364839.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y334-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "von Willebrand factor A domain-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y334-1", "PR:Q9Y334-1", "ENSEMBL:ENSP00000364840", "ENSEMBL:ENSP00000364840.4", "ENSEMBL:ENSP00000390732", "ENSEMBL:ENSP00000390732.2", "ENSEMBL:ENSP00000406943", "ENSEMBL:ENSP00000406943.2", "ENSEMBL:ENSP00000411910", "ENSEMBL:ENSP00000411910.2", "ENSEMBL:ENSP00000413704", "ENSEMBL:ENSP00000413704.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5V3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanoma-associated antigen D1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5V3-2", "PR:Q9Y5V3-2", "ENSEMBL:ENSP00000364847", "ENSEMBL:ENSP00000364847.2"], "information_content": 100.0}
{"id": "UniProtKB:O43196-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MutS protein homolog 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O43196-2", "PR:O43196-2", "ENSEMBL:ENSP00000364855", "ENSEMBL:ENSP00000364855.3", "ENSEMBL:ENSP00000394649", "ENSEMBL:ENSP00000394649.1", "ENSEMBL:ENSP00000406868", "ENSEMBL:ENSP00000406868.1", "ENSEMBL:ENSP00000407047", "ENSEMBL:ENSP00000407047.1"], "information_content": 100.0}
{"id": "NCBIGene:4920", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ROR2", "equivalent_identifiers": ["NCBIGene:4920", "ENSEMBL:ENSG00000169071", "HGNC:10257", "OMIM:602337", "UMLS:C1366544", "UniProtKB:Q01974", "PR:Q01974", "ENSEMBL:ENSP00000364860", "ENSEMBL:ENSP00000364860.3", "UMLS:C0211526", "MESH:C078717"], "information_content": 89.4}
{"id": "UniProtKB:O15066-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF3B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15066-1", "PR:O15066-1", "ENSEMBL:ENSP00000364864", "ENSEMBL:ENSP00000364864.3"], "information_content": 100.0}
{"id": "NCBIGene:27129", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPB7", "equivalent_identifiers": ["NCBIGene:27129", "ENSEMBL:ENSG00000173641", "HGNC:5249", "OMIM:610692", "UMLS:C1415770", "UniProtKB:D3YTC6", "ENSEMBL:ENSP00000391578", "ENSEMBL:ENSP00000391578.1", "UniProtKB:Q68DG0", "ENSEMBL:ENSP00000385472", "ENSEMBL:ENSP00000385472.2", "UniProtKB:Q8N241", "ENSEMBL:ENSP00000364870", "ENSEMBL:ENSP00000364870.4", "UniProtKB:Q9UBY9", "PR:Q9UBY9", "UMLS:C2935503", "MESH:C550985"]}
{"id": "UniProtKB:Q13825-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methylglutaconyl-CoA hydratase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13825-1", "PR:Q13825-1", "ENSEMBL:ENSP00000364883", "ENSEMBL:ENSP00000364883.5"], "information_content": 100.0}
{"id": "UniProtKB:Q13105-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and BTB domain-containing protein 17 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13105-2", "PR:Q13105-2", "ENSEMBL:ENSP00000364885", "ENSEMBL:ENSP00000364885.2"], "information_content": 100.0}
{"id": "NCBIGene:390", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RND3", "equivalent_identifiers": ["NCBIGene:390", "ENSEMBL:ENSG00000115963", "HGNC:671", "OMIM:602924", "UMLS:C1538857", "UniProtKB:B2R838", "UMLS:C1701174", "MESH:C508705", "UniProtKB:P61587", "PR:P61587", "ENSEMBL:ENSP00000263895", "ENSEMBL:ENSP00000263895.4", "ENSEMBL:ENSP00000364886", "ENSEMBL:ENSP00000364886.2"], "information_content": 95.4}
{"id": "UniProtKB:P43405-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase SYK isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P43405-1", "PR:P43405-1", "ENSEMBL:ENSP00000364898", "ENSEMBL:ENSP00000364898.1", "ENSEMBL:ENSP00000364907", "ENSEMBL:ENSP00000364907.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H488-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GDP-fucose protein O-fucosyltransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H488-1", "PR:Q9H488-1", "ENSEMBL:ENSP00000364902", "ENSEMBL:ENSP00000364902.3"], "information_content": 100.0}
{"id": "NCBIGene:23013", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPEN", "equivalent_identifiers": ["NCBIGene:23013", "ENSEMBL:ENSG00000065526", "HGNC:17575", "OMIM:613484", "UMLS:C1539835", "UniProtKB:Q96T58", "PR:Q96T58", "ENSEMBL:ENSP00000364912", "ENSEMBL:ENSP00000364912.3", "UMLS:C1310944", "MESH:C476510"], "information_content": 88.2}
{"id": "NCBIGene:54769", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DIRAS2", "equivalent_identifiers": ["NCBIGene:54769", "ENSEMBL:ENSG00000165023", "HGNC:19323", "OMIM:607863", "UMLS:C1426163", "UniProtKB:Q96HU8", "PR:Q96HU8", "ENSEMBL:ENSP00000364919", "ENSEMBL:ENSP00000364919.3"], "information_content": 95.4}
{"id": "NCBIGene:3621", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ING1", "equivalent_identifiers": ["NCBIGene:3621", "ENSEMBL:ENSG00000153487", "HGNC:6062", "OMIM:601566", "UMLS:C1334129", "UniProtKB:A0A0C4DFW2", "ENSEMBL:ENSP00000364929", "ENSEMBL:ENSP00000364929.3", "UniProtKB:Q9UK53", "PR:Q9UK53", "UMLS:C1311255", "MESH:C501503"]}
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{"id": "NCBIGene:283078", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MKX", "equivalent_identifiers": ["NCBIGene:283078", "ENSEMBL:ENSG00000150051", "HGNC:23729", "OMIM:601332", "UMLS:C1826256", "UniProtKB:Q8IYA7", "PR:Q8IYA7", "ENSEMBL:ENSP00000364946", "ENSEMBL:ENSP00000364946.4", "ENSEMBL:ENSP00000400896", "ENSEMBL:ENSP00000400896.1", "UMLS:C4042615", "MESH:C000595223"], "information_content": 95.4}
{"id": "NCBIGene:23564", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDAH2", "equivalent_identifiers": ["NCBIGene:23564", "ENSEMBL:ENSG00000213722", "HGNC:2716", "OMIM:604744", "UMLS:C1413940", "UniProtKB:O95865", "PR:O95865", "ENSEMBL:ENSP00000364943", "ENSEMBL:ENSP00000364943.2", "ENSEMBL:ENSP00000364945", "ENSEMBL:ENSP00000364945.2", "ENSEMBL:ENSP00000364949", "ENSEMBL:ENSP00000364949.3", "ENSEMBL:ENSP00000372901", "ENSEMBL:ENSP00000372901.2", "ENSEMBL:ENSP00000382935", "ENSEMBL:ENSP00000382935.1", "ENSEMBL:ENSP00000382936", "ENSEMBL:ENSP00000382936.3", "ENSEMBL:ENSP00000389552", "ENSEMBL:ENSP00000389552.1", "ENSEMBL:ENSP00000391632", "ENSEMBL:ENSP00000391632.1", "ENSEMBL:ENSP00000391833", "ENSEMBL:ENSP00000391833.2", "ENSEMBL:ENSP00000395372", "ENSEMBL:ENSP00000395372.1", "ENSEMBL:ENSP00000395759", "ENSEMBL:ENSP00000395759.2", "ENSEMBL:ENSP00000397466", "ENSEMBL:ENSP00000397466.2", "ENSEMBL:ENSP00000399023", "ENSEMBL:ENSP00000399023.2", "ENSEMBL:ENSP00000399357", "ENSEMBL:ENSP00000399357.2", "ENSEMBL:ENSP00000402594", "ENSEMBL:ENSP00000402594.1", "ENSEMBL:ENSP00000403154", "ENSEMBL:ENSP00000403154.1", "ENSEMBL:ENSP00000404342", "ENSEMBL:ENSP00000404342.1", "ENSEMBL:ENSP00000404851", "ENSEMBL:ENSP00000404851.1", "ENSEMBL:ENSP00000405515", "ENSEMBL:ENSP00000405515.2", "ENSEMBL:ENSP00000408148", "ENSEMBL:ENSP00000408148.1", "ENSEMBL:ENSP00000409396", "ENSEMBL:ENSP00000409396.2", "ENSEMBL:ENSP00000412327", "ENSEMBL:ENSP00000412327.1", "ENSEMBL:ENSP00000412800", "ENSEMBL:ENSP00000412800.1", "UMLS:C1449444", "UniProtKB:V9HW53"], "information_content": 95.4}
{"id": "UniProtKB:Q8IWE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family M member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWE5-1", "PR:Q8IWE5-1", "ENSEMBL:ENSP00000364956", "ENSEMBL:ENSP00000364956.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96T21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "selenocysteine insertion sequence-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96T21-1", "PR:Q96T21-1", "ENSEMBL:ENSP00000364965", "ENSEMBL:ENSP00000364965.3"], "information_content": 100.0}
{"id": "NCBIGene:1164", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CKS2", "equivalent_identifiers": ["NCBIGene:1164", "ENSEMBL:ENSG00000123975", "HGNC:2000", "OMIM:116901", "UMLS:C1413440", "UniProtKB:P33552", "PR:P33552", "ENSEMBL:ENSP00000364976", "ENSEMBL:ENSP00000364976.3", "UMLS:C1437642", "MESH:C083689"], "information_content": 95.4}
{"id": "NCBIGene:80740", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LY6G6C", "equivalent_identifiers": ["NCBIGene:80740", "ENSEMBL:ENSG00000204421", "HGNC:13936", "OMIM:610435", "UMLS:C1422284", "UniProtKB:A0A1U9X7Z1", "UniProtKB:O95867", "PR:O95867", "ENSEMBL:ENSP00000364978", "ENSEMBL:ENSP00000364978.2", "ENSEMBL:ENSP00000372905", "ENSEMBL:ENSP00000372905.4", "ENSEMBL:ENSP00000388591", "ENSEMBL:ENSP00000388591.2", "ENSEMBL:ENSP00000409428", "ENSEMBL:ENSP00000409428.2", "ENSEMBL:ENSP00000410398", "ENSEMBL:ENSP00000410398.2", "ENSEMBL:ENSP00000411365", "ENSEMBL:ENSP00000411365.2", "ENSEMBL:ENSP00000415732", "ENSEMBL:ENSP00000415732.2"], "information_content": 100.0}
{"id": "UniProtKB:P02462-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(IV) chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P02462-1", "PR:P02462-1", "ENSEMBL:ENSP00000364979", "ENSEMBL:ENSP00000364979.4"], "information_content": 100.0}
{"id": "NCBIGene:58530", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LY6G6D", "equivalent_identifiers": ["NCBIGene:58530", "ENSEMBL:ENSG00000244355", "HGNC:13935", "OMIM:606038", "UMLS:C1422283", "UniProtKB:A0A1L6Z9X4", "UMLS:C2932989", "MESH:C548380", "UniProtKB:O95868", "PR:O95868", "ENSEMBL:ENSP00000364985", "ENSEMBL:ENSP00000364985.3", "ENSEMBL:ENSP00000382952", "ENSEMBL:ENSP00000382952.3", "ENSEMBL:ENSP00000389619", "ENSEMBL:ENSP00000389619.2", "ENSEMBL:ENSP00000390777", "ENSEMBL:ENSP00000390777.2", "ENSEMBL:ENSP00000392651", "ENSEMBL:ENSP00000392651.2", "ENSEMBL:ENSP00000395722", "ENSEMBL:ENSP00000395722.2", "ENSEMBL:ENSP00000397576", "ENSEMBL:ENSP00000397576.2"], "information_content": 100.0}
{"id": "NCBIGene:79814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGMAT", "equivalent_identifiers": ["NCBIGene:79814", "ENSEMBL:ENSG00000116771", "HGNC:18407", "OMIM:617887", "UMLS:C1425503", "UniProtKB:Q9BSE5", "PR:Q9BSE5", "ENSEMBL:ENSP00000364986", "ENSEMBL:ENSP00000364986.3", "UMLS:C1313330", "MESH:C498226"], "information_content": 100.0}
{"id": "UniProtKB:Q5SQ64-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphocyte antigen 6 complex locus protein G6f isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SQ64-1", "PR:Q5SQ64-1", "ENSEMBL:ENSP00000364992", "ENSEMBL:ENSP00000364992.5", "ENSEMBL:ENSP00000389102", "ENSEMBL:ENSP00000389102.2", "ENSEMBL:ENSP00000404884", "ENSEMBL:ENSP00000404884.2", "ENSEMBL:ENSP00000407535", "ENSEMBL:ENSP00000407535.2", "ENSEMBL:ENSP00000409959", "ENSEMBL:ENSP00000409959.2"], "information_content": 100.0}
{"id": "UniProtKB:Q92529-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SHC-transforming protein 3 isoform hp64 (human)", "equivalent_identifiers": ["UniProtKB:Q92529-1", "PR:Q92529-1", "ENSEMBL:ENSP00000364995", "ENSEMBL:ENSP00000364995.4"], "information_content": 100.0}
{"id": "NCBIGene:1903", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S1PR3", "equivalent_identifiers": ["NCBIGene:1903", "ENSEMBL:ENSG00000213694", "HGNC:3167", "OMIM:601965", "UMLS:C1414255", "UniProtKB:Q99500", "PR:Q99500", "ENSEMBL:ENSP00000350878", "ENSEMBL:ENSP00000350878.2", "ENSEMBL:ENSP00000365006", "ENSEMBL:ENSP00000365006.3", "UMLS:C3530091", "MESH:C577483"], "information_content": 100.0}
{"id": "UniProtKB:P08631-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase HCK isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08631-1", "PR:P08631-1", "ENSEMBL:ENSP00000365012", "ENSEMBL:ENSP00000365012.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5VZ03-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoredoxin-like protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VZ03-1", "PR:Q5VZ03-1", "ENSEMBL:ENSP00000365014", "ENSEMBL:ENSP00000365014.3", "ENSEMBL:ENSP00000508470", "ENSEMBL:ENSP00000508470.1", "ENSEMBL:ENSP00000516996", "ENSEMBL:ENSP00000516996.1", "ENSEMBL:ENSP00000516997", "ENSEMBL:ENSP00000516997.1"], "information_content": 100.0}
{"id": "NCBIGene:8660", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IRS2", "equivalent_identifiers": ["NCBIGene:8660", "ENSEMBL:ENSG00000185950", "HGNC:6126", "OMIM:600797", "UMLS:C1334141", "UniProtKB:Q9P084", "UniProtKB:Q9Y4H2", "PR:Q9Y4H2", "ENSEMBL:ENSP00000365016", "ENSEMBL:ENSP00000365016.3", "UMLS:C1334191", "MESH:C526297"], "information_content": 92.8}
{"id": "NCBIGene:10927", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPIN1", "equivalent_identifiers": ["NCBIGene:10927", "ENSEMBL:ENSG00000106723", "HGNC:11243", "OMIM:609936", "UMLS:C1823107", "UniProtKB:Q9Y657", "PR:Q9Y657", "ENSEMBL:ENSP00000365019", "ENSEMBL:ENSP00000365019.3"], "information_content": 92.8}
{"id": "UniProtKB:Q8NDX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphocyte antigen 6 complex locus protein G5b isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDX9-1", "PR:Q8NDX9-1", "ENSEMBL:ENSP00000365024", "ENSEMBL:ENSP00000365024.4", "ENSEMBL:ENSP00000417055", "ENSEMBL:ENSP00000417055.1", "ENSEMBL:ENSP00000417822", "ENSEMBL:ENSP00000417822.1", "ENSEMBL:ENSP00000418119", "ENSEMBL:ENSP00000418119.1", "ENSEMBL:ENSP00000420698", "ENSEMBL:ENSP00000420698.1"], "information_content": 100.0}
{"id": "NCBIGene:1460", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSNK2B", "equivalent_identifiers": ["NCBIGene:1460", "ENSEMBL:ENSG00000204435", "HGNC:2460", "OMIM:115441", "UMLS:C1413762", "UniProtKB:A0A1U9X7J2", "UniProtKB:N0E4C7", "UniProtKB:P67870", "PR:P67870", "ENSEMBL:ENSP00000365025", "ENSEMBL:ENSP00000365025.2", "ENSEMBL:ENSP00000365026", "ENSEMBL:ENSP00000365026.2", "ENSEMBL:ENSP00000365042", "ENSEMBL:ENSP00000365042.3", "ENSEMBL:ENSP00000372919", "ENSEMBL:ENSP00000372919.2", "ENSEMBL:ENSP00000372925", "ENSEMBL:ENSP00000372925.4", "ENSEMBL:ENSP00000382980", "ENSEMBL:ENSP00000382980.1", "ENSEMBL:ENSP00000390900", "ENSEMBL:ENSP00000390900.2", "ENSEMBL:ENSP00000391038", "ENSEMBL:ENSP00000391038.1", "ENSEMBL:ENSP00000393756", "ENSEMBL:ENSP00000393756.1", "ENSEMBL:ENSP00000394855", "ENSEMBL:ENSP00000394855.1", "ENSEMBL:ENSP00000395275", "ENSEMBL:ENSP00000395275.1", "ENSEMBL:ENSP00000400188", "ENSEMBL:ENSP00000400188.2", "ENSEMBL:ENSP00000407018", "ENSEMBL:ENSP00000407018.2", "ENSEMBL:ENSP00000407379", "ENSEMBL:ENSP00000407379.1", "ENSEMBL:ENSP00000409510", "ENSEMBL:ENSP00000409510.1", "ENSEMBL:ENSP00000410802", "ENSEMBL:ENSP00000410802.1", "ENSEMBL:ENSP00000411322", "ENSEMBL:ENSP00000411322.1", "ENSEMBL:ENSP00000412520", "ENSEMBL:ENSP00000412520.1", "ENSEMBL:ENSP00000413469", "ENSEMBL:ENSP00000413469.1", "ENSEMBL:ENSP00000415237", "ENSEMBL:ENSP00000415237.2", "ENSEMBL:ENSP00000415303", "ENSEMBL:ENSP00000415303.2", "UMLS:C3814454"], "information_content": 90.9}
{"id": "UniProtKB:Q9Y275-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor ligand superfamily member 13B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y275-1", "PR:Q9Y275-1", "ENSEMBL:ENSP00000365048", "ENSEMBL:ENSP00000365048.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5T8D3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-CoA-binding domain-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T8D3-1", "PR:Q5T8D3-1", "ENSEMBL:ENSP00000365049", "ENSEMBL:ENSP00000365049.1"], "information_content": 100.0}
{"id": "NCBIGene:84945", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABHD13", "equivalent_identifiers": ["NCBIGene:84945", "ENSEMBL:ENSG00000139826", "HGNC:20293", "OMIM:621039", "UMLS:C1825823", "UniProtKB:Q7L211", "PR:Q7L211", "ENSEMBL:ENSP00000365063", "ENSEMBL:ENSP00000365063.3"], "information_content": 92.8}
{"id": "NCBIGene:51032", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CELA2B", "equivalent_identifiers": ["NCBIGene:51032", "ENSEMBL:ENSG00000215704", "HGNC:29995", "OMIM:609444", "UMLS:C1836180", "UniProtKB:P08218", "PR:P08218", "ENSEMBL:ENSP00000365075", "ENSEMBL:ENSP00000365075.3", "UniProtKB:Q6ISP9"], "information_content": 100.0}
{"id": "NCBIGene:728215", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NALF1", "equivalent_identifiers": ["NCBIGene:728215", "ENSEMBL:ENSG00000204442", "HGNC:33877", "OMIM:619899", "UMLS:C2681480", "UniProtKB:B1AL88", "PR:B1AL88", "ENSEMBL:ENSP00000365080", "ENSEMBL:ENSP00000365080.1", "UMLS:C4743389", "MESH:C000629387"], "information_content": 100.0}
{"id": "UniProtKB:O95445-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apolipoprotein M isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95445-1", "PR:O95445-1", "ENSEMBL:ENSP00000365081", "ENSEMBL:ENSP00000365081.3", "ENSEMBL:ENSP00000372930", "ENSEMBL:ENSP00000372930.4", "ENSEMBL:ENSP00000389591", "ENSEMBL:ENSP00000389591.2", "ENSEMBL:ENSP00000394610", "ENSEMBL:ENSP00000394610.2", "ENSEMBL:ENSP00000398944", "ENSEMBL:ENSP00000398944.2", "ENSEMBL:ENSP00000401684", "ENSEMBL:ENSP00000401684.2", "ENSEMBL:ENSP00000405730", "ENSEMBL:ENSP00000405730.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96GX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase greatwall isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GX5-1", "PR:Q96GX5-1", "ENSEMBL:ENSP00000365107", "ENSEMBL:ENSP00000365107.5"], "information_content": 100.0}
{"id": "NCBIGene:11330", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTRC", "equivalent_identifiers": ["NCBIGene:11330", "ENSEMBL:ENSG00000162438", "HGNC:2523", "OMIM:601405", "UMLS:C1413808", "UniProtKB:Q99895", "PR:Q99895", "ENSEMBL:ENSP00000365116", "ENSEMBL:ENSP00000365116.4", "UMLS:C2001156"], "information_content": 85.5}
{"id": "MONDO:0001903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "calcific tendinitis", "equivalent_identifiers": ["MONDO:0001903", "DOID:14181", "UMLS:C0158303", "UMLS:C0521515", "MEDDRA:10006937", "MEDDRA:10077510", "MEDDRA:10077511", "SNOMEDCT:27741009", "SNOMEDCT:699942000", "SNOMEDCT:95414005", "medgen:636635", "icd11.foundation:856383808", "ICD10:M75.3", "ICD9:726.11"], "information_content": 100.0}
{"id": "UniProtKB:Q5VYS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "terminal uridylyltransferase 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VYS8-1", "PR:Q5VYS8-1", "ENSEMBL:ENSP00000365130", "ENSEMBL:ENSP00000365130.3"], "information_content": 100.0}
{"id": "NCBIGene:7917", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BAG6", "equivalent_identifiers": ["NCBIGene:7917", "ENSEMBL:ENSG00000204463", "HGNC:13919", "OMIM:142590", "UMLS:C1422271", "UniProtKB:A0A1U9X7A6", "UMLS:C1430160", "MESH:C092009", "UniProtKB:A0A7P0MQS5", "ENSEMBL:ENSP00000365131", "ENSEMBL:ENSP00000365131.6", "UniProtKB:P46379", "PR:P46379"]}
{"id": "NCBIGene:2307", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXS1", "equivalent_identifiers": ["NCBIGene:2307", "ENSEMBL:ENSG00000179772", "HGNC:3735", "OMIM:602939", "UMLS:C1414632", "UniProtKB:O43638", "PR:O43638", "ENSEMBL:ENSP00000365145", "ENSEMBL:ENSP00000365145.3", "UMLS:C0666821", "MESH:C108611"], "information_content": 95.4}
{"id": "NCBIGene:79180", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EFHD2", "equivalent_identifiers": ["NCBIGene:79180", "ENSEMBL:ENSG00000142634", "HGNC:28670", "OMIM:616450", "UMLS:C1428731", "UniProtKB:A0A024QZ77", "UMLS:C1571219", "MESH:C502299", "UniProtKB:Q96C19", "PR:Q96C19", "ENSEMBL:ENSP00000365147", "ENSEMBL:ENSP00000365147.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9BUE6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "iron-sulfur cluster assembly 1 homolog, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUE6-1", "PR:Q9BUE6-1", "ENSEMBL:ENSP00000365159", "ENSEMBL:ENSP00000365159.4"], "information_content": 100.0}
{"id": "MONDO:0030318", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 30", "equivalent_identifiers": ["MONDO:0030318", "DOID:0070411", "OMIM:619405", "UMLS:C5543620", "medgen:1778853"], "information_content": 100.0}
{"id": "NCBIGene:55190", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUDT11", "equivalent_identifiers": ["NCBIGene:55190", "ENSEMBL:ENSG00000196368", "HGNC:18011", "OMIM:300528", "UMLS:C1425238", "UniProtKB:Q96G61", "PR:Q96G61", "ENSEMBL:ENSP00000365160", "ENSEMBL:ENSP00000365160.3", "UMLS:C1172725", "MESH:C469382"], "information_content": 95.4}
{"id": "NCBIGene:85366", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYLK2", "equivalent_identifiers": ["NCBIGene:85366", "ENSEMBL:ENSG00000101306", "HGNC:16243", "OMIM:606566", "UMLS:C1424116", "UniProtKB:Q9H1R3", "PR:Q9H1R3", "ENSEMBL:ENSP00000365152", "ENSEMBL:ENSP00000365152.4", "ENSEMBL:ENSP00000365162", "ENSEMBL:ENSP00000365162.2"], "information_content": 100.0}
{"id": "NCBIGene:79070", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POGLUT2", "equivalent_identifiers": ["NCBIGene:79070", "ENSEMBL:ENSG00000134901", "HGNC:19350", "OMIM:611613", "UMLS:C1426182", "UniProtKB:A0A9L9PXM5", "ENSEMBL:ENSP00000516430", "ENSEMBL:ENSP00000516430.1", "UniProtKB:Q6UW63", "PR:Q6UW63", "ENSEMBL:ENSP00000365172", "ENSEMBL:ENSP00000365172.4"], "information_content": 95.4}
{"id": "NCBIGene:170685", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUDT10", "equivalent_identifiers": ["NCBIGene:170685", "ENSEMBL:ENSG00000122824", "HGNC:17621", "OMIM:300527", "UMLS:C1425016", "UniProtKB:Q8NFP7", "PR:Q8NFP7", "ENSEMBL:ENSP00000348831", "ENSEMBL:ENSP00000348831.2", "ENSEMBL:ENSP00000365174", "ENSEMBL:ENSP00000365174.3", "UMLS:C1172726", "MESH:C469383"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULL8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Shroom4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULL8-1", "PR:Q9ULL8-1", "ENSEMBL:ENSP00000289292", "ENSEMBL:ENSP00000289292.7", "ENSEMBL:ENSP00000365188", "ENSEMBL:ENSP00000365188.2"], "information_content": 100.0}
{"id": "UniProtKB:Q674X7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kazrin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q674X7-1", "PR:Q674X7-1", "ENSEMBL:ENSP00000365198", "ENSEMBL:ENSP00000365198.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5JUR7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis-expressed protein 30 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JUR7-1", "PR:Q5JUR7-1", "ENSEMBL:ENSP00000365200", "ENSEMBL:ENSP00000365200.4"], "information_content": 100.0}
{"id": "UniProtKB:P48634-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein PRRC2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48634-1", "PR:P48634-1", "ENSEMBL:ENSP00000365175", "ENSEMBL:ENSP00000365175.4", "ENSEMBL:ENSP00000365201", "ENSEMBL:ENSP00000365201.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWL7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G2/mitotic-specific cyclin-B3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWL7-1", "PR:Q8WWL7-1", "ENSEMBL:ENSP00000276014", "ENSEMBL:ENSP00000276014.7", "ENSEMBL:ENSP00000365210", "ENSEMBL:ENSP00000365210.1"], "information_content": 100.0}
{"id": "MONDO:0021169", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epithelioid hemangioma", "equivalent_identifiers": ["MONDO:0021169", "DOID:474", "orphanet:675396", "UMLS:C0205788", "MEDDRA:10048637", "NCIT:C4298", "SNOMEDCT:125574005", "SNOMEDCT:189869009", "SNOMEDCT:33929001", "medgen:61449", "HP:0032060"], "information_content": 88.2}
{"id": "NCBIGene:7174", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPP2", "equivalent_identifiers": ["NCBIGene:7174", "ENSEMBL:ENSG00000134900", "HGNC:12016", "OMIM:190470", "UMLS:C1420876", "UniProtKB:P29144", "PR:P29144", "ENSEMBL:ENSP00000365233", "ENSEMBL:ENSP00000365233.4", "UMLS:C2713379", "UniProtKB:Q5VZU9", "ENSEMBL:ENSP00000365220", "ENSEMBL:ENSP00000365220.3"]}
{"id": "UniProtKB:P55008-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "allograft inflammatory factor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P55008-1", "PR:P55008-1", "ENSEMBL:ENSP00000365227", "ENSEMBL:ENSP00000365227.3", "ENSEMBL:ENSP00000372966", "ENSEMBL:ENSP00000372966.4", "ENSEMBL:ENSP00000391720", "ENSEMBL:ENSP00000391720.2", "ENSEMBL:ENSP00000397842", "ENSEMBL:ENSP00000397842.2", "ENSEMBL:ENSP00000398013", "ENSEMBL:ENSP00000398013.2", "ENSEMBL:ENSP00000416061", "ENSEMBL:ENSP00000416061.2"], "information_content": 100.0}
{"id": "UniProtKB:Q07817-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Bcl-2-like protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q07817-1", "PR:Q07817-1", "ENSEMBL:ENSP00000302564", "ENSEMBL:ENSP00000302564.4", "ENSEMBL:ENSP00000365230", "ENSEMBL:ENSP00000365230.2", "ENSEMBL:ENSP00000389688", "ENSEMBL:ENSP00000389688.2", "ENSEMBL:ENSP00000390760", "ENSEMBL:ENSP00000390760.2", "ENSEMBL:ENSP00000395545", "ENSEMBL:ENSP00000395545.2", "ENSEMBL:ENSP00000401173", "ENSEMBL:ENSP00000401173.2", "ENSEMBL:ENSP00000503725", "ENSEMBL:ENSP00000503725.1", "ENSEMBL:ENSP00000504237", "ENSEMBL:ENSP00000504237.1", "ENSEMBL:ENSP00000504387", "ENSEMBL:ENSP00000504387.1", "ENSEMBL:ENSP00000504536", "ENSEMBL:ENSP00000504536.1"], "information_content": 100.0}
{"id": "NCBIGene:84701", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX4I2", "equivalent_identifiers": ["NCBIGene:84701", "ENSEMBL:ENSG00000131055", "HGNC:16232", "OMIM:607976", "UMLS:C1424108", "UniProtKB:H6SG14", "UMLS:C2714943", "MESH:C539675", "UniProtKB:Q96KJ9", "PR:Q96KJ9", "ENSEMBL:ENSP00000365243", "ENSEMBL:ENSP00000365243.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 26 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPS8-1", "PR:Q9UPS8-1", "ENSEMBL:ENSP00000365255", "ENSEMBL:ENSP00000365255.4"], "information_content": 100.0}
{"id": "UniProtKB:P51795-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H(+)/Cl(-) exchange transporter 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51795-2", "PR:P51795-2", "ENSEMBL:ENSP00000365256", "ENSEMBL:ENSP00000365256.3", "ENSEMBL:ENSP00000365259", "ENSEMBL:ENSP00000365259.3"], "information_content": 100.0}
{"id": "UniProtKB:O00453-11", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukocyte-specific transcript 1 protein isoform h11 (human)", "equivalent_identifiers": ["UniProtKB:O00453-11", "PR:O00453-11", "ENSEMBL:ENSP00000365261", "ENSEMBL:ENSP00000365261.2", "ENSEMBL:ENSP00000372978", "ENSEMBL:ENSP00000372978.2", "ENSEMBL:ENSP00000396179", "ENSEMBL:ENSP00000396179.1", "ENSEMBL:ENSP00000398685", "ENSEMBL:ENSP00000398685.1", "ENSEMBL:ENSP00000399411", "ENSEMBL:ENSP00000399411.1", "ENSEMBL:ENSP00000403097", "ENSEMBL:ENSP00000403097.1", "ENSEMBL:ENSP00000406455", "ENSEMBL:ENSP00000406455.1", "ENSEMBL:ENSP00000409229", "ENSEMBL:ENSP00000409229.1"], "information_content": 100.0}
{"id": "NCBIGene:391004", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF17", "equivalent_identifiers": ["NCBIGene:391004", "ENSEMBL:ENSG00000204479", "HGNC:29485", "UMLS:C1826689", "UniProtKB:Q5VTA0", "PR:Q5VTA0", "ENSEMBL:ENSP00000365266", "ENSEMBL:ENSP00000365266.3"], "information_content": 100.0}
{"id": "MONDO:0006411", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sinonasal undifferentiated carcinoma", "equivalent_identifiers": ["MONDO:0006411", "DOID:0080799", "EFO:1000527", "UMLS:C1710096", "MESH:C537344", "MEDDRA:10082256", "NCIT:C54294", "SNOMEDCT:697993003", "medgen:313704"], "information_content": 100.0}
{"id": "MONDO:0006329", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "olfactory neuroblastoma", "equivalent_identifiers": ["MONDO:0006329", "DOID:369", "EFO:1000407", "NCIT:C3789", "icd11.foundation:2007774165"], "information_content": 84.8}
{"id": "UniProtKB:Q15700-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disks large homolog 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15700-2", "PR:Q15700-2", "ENSEMBL:ENSP00000365272", "ENSEMBL:ENSP00000365272.2"], "information_content": 100.0}
{"id": "UniProtKB:P41134-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-binding protein inhibitor ID-1 isoform ID-A (human)", "equivalent_identifiers": ["UniProtKB:P41134-1", "PR:P41134-1", "ENSEMBL:ENSP00000365280", "ENSEMBL:ENSP00000365280.3", "ENSEMBL:ENSP00000520744", "ENSEMBL:ENSP00000520744.1", "ENSEMBL:ENSP00000520745", "ENSEMBL:ENSP00000520745.1"], "information_content": 100.0}
{"id": "NCBIGene:220382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM181B", "equivalent_identifiers": ["NCBIGene:220382", "ENSEMBL:ENSG00000182103", "HGNC:28512", "UMLS:C2681514", "UniProtKB:A6NEQ2", "PR:A6NEQ2", "ENSEMBL:ENSP00000365295", "ENSEMBL:ENSP00000365295.2"], "information_content": 92.8}
{"id": "UniProtKB:Q92915-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibroblast growth factor 14 isoform 1B (human)", "equivalent_identifiers": ["UniProtKB:Q92915-2", "PR:Q92915-2", "ENSEMBL:ENSP00000365301", "ENSEMBL:ENSP00000365301.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Abl interactor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZP0-1", "PR:Q8IZP0-1", "ENSEMBL:ENSP00000365312", "ENSEMBL:ENSP00000365312.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBC1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NF-kappa-B inhibitor-like protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBC1-1", "PR:Q9UBC1-1", "ENSEMBL:ENSP00000365318", "ENSEMBL:ENSP00000365318.4"], "information_content": 100.0}
{"id": "NCBIGene:8712", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAGE1", "equivalent_identifiers": ["NCBIGene:8712", "ENSEMBL:ENSG00000068985", "HGNC:4107", "OMIM:300288", "UMLS:C1538566", "UniProtKB:O75459", "PR:O75459", "ENSEMBL:ENSP00000365320", "ENSEMBL:ENSP00000365320.3", "UMLS:C1431409", "MESH:C113433"], "information_content": 100.0}
{"id": "NCBIGene:653619", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF15", "equivalent_identifiers": ["NCBIGene:653619", "ENSEMBL:ENSG00000204501", "HGNC:26764", "UMLS:C1826687", "UniProtKB:P0DUQ1", "PR:P0DUQ1", "ENSEMBL:ENSP00000365322", "ENSEMBL:ENSP00000365322.1"], "information_content": 100.0}
{"id": "UniProtKB:O95965-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin beta-like protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95965-1", "PR:O95965-1", "ENSEMBL:ENSP00000365351", "ENSEMBL:ENSP00000365351.3"], "information_content": 100.0}
{"id": "NCBIGene:343069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HNRNPCL1", "equivalent_identifiers": ["NCBIGene:343069", "ENSEMBL:ENSG00000179172", "HGNC:29295", "UMLS:C1825521", "UniProtKB:O60812", "PR:O60812", "ENSEMBL:ENSP00000365370", "ENSEMBL:ENSP00000365370.4", "ENSEMBL:ENSP00000488130", "ENSEMBL:ENSP00000488130.1"], "information_content": 100.0}
{"id": "MONDO:0012088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 5", "equivalent_identifiers": ["MONDO:0012088", "DOID:0110617", "OMIM:608647", "UMLS:C1837615", "MESH:C563886", "medgen:324840"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZS1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein P3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZS1-1", "PR:Q9BZS1-1", "ENSEMBL:ENSP00000365380", "ENSEMBL:ENSP00000365380.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5T2R2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "all trans-polyprenyl-diphosphate synthase PDSS1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T2R2-1", "PR:Q5T2R2-1", "ENSEMBL:ENSP00000365388", "ENSEMBL:ENSP00000365388.5"], "information_content": 100.0}
{"id": "NCBIGene:28952", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC22", "equivalent_identifiers": ["NCBIGene:28952", "ENSEMBL:ENSG00000101997", "HGNC:28909", "OMIM:300859", "UMLS:C1824547", "UniProtKB:O60826", "PR:O60826", "ENSEMBL:ENSP00000365401", "ENSEMBL:ENSP00000365401.3", "UMLS:C3491996", "MESH:C571908"], "information_content": 92.8}
{"id": "UniProtKB:P10321-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HLA class I histocompatibility antigen, C alpha chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P10321-1", "PR:P10321-1", "ENSEMBL:ENSP00000365402", "ENSEMBL:ENSP00000365402.5"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z5R6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amyloid beta A4 precursor protein-binding family B member 1-interacting protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5R6-1", "PR:Q7Z5R6-1", "ENSEMBL:ENSP00000365411", "ENSEMBL:ENSP00000365411.4", "ENSEMBL:ENSP00000520735", "ENSEMBL:ENSP00000520735.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAS3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 28 member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAS3-1", "PR:Q9HAS3-1", "ENSEMBL:ENSP00000365413", "ENSEMBL:ENSP00000365413.4"], "information_content": 100.0}
{"id": "NCBIGene:6941", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCF19", "equivalent_identifiers": ["NCBIGene:6941", "ENSEMBL:ENSG00000137310", "HGNC:11629", "OMIM:600912", "UMLS:C1420635", "UniProtKB:A0A1U9X8M7", "UMLS:C1307681", "MESH:C098583", "UniProtKB:Q9Y242", "PR:Q9Y242", "ENSEMBL:ENSP00000365431", "ENSEMBL:ENSP00000365431.4", "ENSEMBL:ENSP00000365433", "ENSEMBL:ENSP00000365433.3", "ENSEMBL:ENSP00000516543", "ENSEMBL:ENSP00000516543.1", "ENSEMBL:ENSP00000516544", "ENSEMBL:ENSP00000516544.1", "ENSEMBL:ENSP00000516545", "ENSEMBL:ENSP00000516545.1", "ENSEMBL:ENSP00000516546", "ENSEMBL:ENSP00000516546.1", "ENSEMBL:ENSP00000516551", "ENSEMBL:ENSP00000516551.1"], "information_content": 95.4}
{"id": "UniProtKB:P20333-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20333-1", "PR:P20333-1", "ENSEMBL:ENSP00000365435", "ENSEMBL:ENSP00000365435.3"], "information_content": 100.0}
{"id": "NCBIGene:2572", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GAD2", "equivalent_identifiers": ["NCBIGene:2572", "ENSEMBL:ENSG00000136750", "HGNC:4093", "OMIM:138275", "UMLS:C1414926", "UniProtKB:Q05329", "PR:Q05329", "ENSEMBL:ENSP00000259271", "ENSEMBL:ENSP00000259271.3", "ENSEMBL:ENSP00000365437", "ENSEMBL:ENSP00000365437.3", "UMLS:C2000774", "UniProtKB:Q5VZ30"], "information_content": 89.4}
{"id": "UniProtKB:O60840-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent L-type calcium channel subunit alpha-1F isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60840-1", "PR:O60840-1", "ENSEMBL:ENSP00000365441", "ENSEMBL:ENSP00000365441.2"], "information_content": 100.0}
{"id": "UniProtKB:P61978-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein K isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P61978-2", "PR:P61978-2", "ENSEMBL:ENSP00000365439", "ENSEMBL:ENSP00000365439.3", "ENSEMBL:ENSP00000365458", "ENSEMBL:ENSP00000365458.4", "ENSEMBL:ENSP00000515618", "ENSEMBL:ENSP00000515618.1", "ENSEMBL:ENSP00000515624", "ENSEMBL:ENSP00000515624.1", "ENSEMBL:ENSP00000515660", "ENSEMBL:ENSP00000515660.1", "ENSEMBL:ENSP00000515662", "ENSEMBL:ENSP00000515662.1"], "information_content": 100.0}
{"id": "UniProtKB:P05165-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "propionyl-CoA carboxylase alpha chain, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P05165-1", "PR:P05165-1", "ENSEMBL:ENSP00000365462", "ENSEMBL:ENSP00000365462.1"], "information_content": 100.0}
{"id": "NCBIGene:1041", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDSN", "equivalent_identifiers": ["NCBIGene:1041", "ENSEMBL:ENSG00000204539", "HGNC:1802", "OMIM:602593", "UMLS:C1413299", "UniProtKB:Q15517", "PR:Q15517", "ENSEMBL:ENSP00000259726", "ENSEMBL:ENSP00000259726.6", "ENSEMBL:ENSP00000365465", "ENSEMBL:ENSP00000365465.2", "ENSEMBL:ENSP00000388386", "ENSEMBL:ENSP00000388386.2", "ENSEMBL:ENSP00000392863", "ENSEMBL:ENSP00000392863.2", "ENSEMBL:ENSP00000399604", "ENSEMBL:ENSP00000399604.2", "UMLS:C1431107", "MESH:C109656"], "information_content": 87.2}
{"id": "MONDO:0014555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peeling skin syndrome type A", "equivalent_identifiers": ["MONDO:0014555", "DOID:0070522", "OMIM:616265", "orphanet:263548", "UMLS:C4015729", "medgen:864166"], "information_content": 100.0}
{"id": "UniProtKB:Q5SSG8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mucin-21 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SSG8-1", "PR:Q5SSG8-1", "ENSEMBL:ENSP00000365473", "ENSEMBL:ENSP00000365473.3"], "information_content": 100.0}
{"id": "NCBIGene:54520", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC93", "equivalent_identifiers": ["NCBIGene:54520", "ENSEMBL:ENSG00000125633", "HGNC:25611", "OMIM:620553", "UMLS:C1824620", "UniProtKB:Q567U6", "PR:Q567U6", "ENSEMBL:ENSP00000365477", "ENSEMBL:ENSP00000365477.2", "UMLS:C5226320", "MESH:C000656309"], "information_content": 95.4}
{"id": "MONDO:0010338", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked distal spinal muscular atrophy type 3", "equivalent_identifiers": ["MONDO:0010338", "DOID:0111196", "OMIM:300489", "orphanet:139557", "UMLS:C1845359", "MESH:C564506", "SNOMEDCT:766764008", "medgen:335168"], "information_content": 100.0}
{"id": "UniProtKB:Q8N688-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-defensin 123 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N688-1", "PR:Q8N688-1", "ENSEMBL:ENSP00000365486", "ENSEMBL:ENSP00000365486.3"], "information_content": 100.0}
{"id": "MONDO:0010108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular germ cell tumor", "equivalent_identifiers": ["MONDO:0010108", "DOID:5557", "OMIM:273300", "orphanet:363504", "EFO:1000566", "UMLS:C1336708", "UMLS:C3463918", "MESH:C563236", "MEDDRA:10075811", "MEDDRA:10075819", "NCIT:C8591", "SNOMEDCT:713577007", "medgen:277809"], "information_content": 68.2}
{"id": "UniProtKB:Q8N690-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-defensin 119 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N690-2", "PR:Q8N690-2", "ENSEMBL:ENSP00000365492", "ENSEMBL:ENSP00000365492.2"], "information_content": 100.0}
{"id": "UniProtKB:Q04941-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteolipid protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q04941-1", "PR:Q04941-1", "ENSEMBL:ENSP00000365505", "ENSEMBL:ENSP00000365505.5"], "information_content": 100.0}
{"id": "NCBIGene:7546", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZIC2", "equivalent_identifiers": ["NCBIGene:7546", "ENSEMBL:ENSG00000043355", "HGNC:12873", "OMIM:603073", "UMLS:C1421582", "UniProtKB:O95409", "PR:O95409", "ENSEMBL:ENSP00000365514", "ENSEMBL:ENSP00000365514.3", "UMLS:C1454720", "UMLS:C2700328", "MESH:C491812"], "information_content": 95.4}
{"id": "UniProtKB:Q9HD43-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase H isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HD43-1", "PR:Q9HD43-1", "ENSEMBL:ENSP00000365528", "ENSEMBL:ENSP00000365528.2"], "information_content": 100.0}
{"id": "NCBIGene:57512", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR158", "equivalent_identifiers": ["NCBIGene:57512", "ENSEMBL:ENSG00000151025", "HGNC:23689", "OMIM:614573", "UMLS:C1428194", "UniProtKB:Q5T848", "PR:Q5T848", "ENSEMBL:ENSP00000365529", "ENSEMBL:ENSP00000365529.3", "UMLS:C4084888", "UMLS:C5197533", "MESH:C000632695"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZWJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-binding protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZWJ1-1", "PR:Q6ZWJ1-1", "ENSEMBL:ENSP00000365530", "ENSEMBL:ENSP00000365530.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N0X4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "citramalyl-CoA lyase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N0X4-1", "PR:Q8N0X4-1", "ENSEMBL:ENSP00000342991", "ENSEMBL:ENSP00000342991.4", "ENSEMBL:ENSP00000365533", "ENSEMBL:ENSP00000365533.4", "ENSEMBL:ENSP00000509937", "ENSEMBL:ENSP00000509937.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5VSY0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G kinase-anchoring protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VSY0-1", "PR:Q5VSY0-1", "ENSEMBL:ENSP00000365550", "ENSEMBL:ENSP00000365550.2"], "information_content": 100.0}
{"id": "UniProtKB:O75955-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "flotillin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75955-1", "PR:O75955-1", "ENSEMBL:ENSP00000365569", "ENSEMBL:ENSP00000365569.3", "ENSEMBL:ENSP00000372873", "ENSEMBL:ENSP00000372873.4", "ENSEMBL:ENSP00000373056", "ENSEMBL:ENSP00000373056.4", "ENSEMBL:ENSP00000388861", "ENSEMBL:ENSP00000388861.2", "ENSEMBL:ENSP00000391438", "ENSEMBL:ENSP00000391438.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UMX0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquilin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMX0-1", "PR:Q9UMX0-1", "ENSEMBL:ENSP00000365576", "ENSEMBL:ENSP00000365576.4"], "information_content": 100.0}
{"id": "UniProtKB:Q14676-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of DNA damage checkpoint protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14676-1", "PR:Q14676-1", "ENSEMBL:ENSP00000365588", "ENSEMBL:ENSP00000365588.3", "ENSEMBL:ENSP00000387429", "ENSEMBL:ENSP00000387429.2", "ENSEMBL:ENSP00000396484", "ENSEMBL:ENSP00000396484.2", "ENSEMBL:ENSP00000409167", "ENSEMBL:ENSP00000409167.2", "ENSEMBL:ENSP00000415212", "ENSEMBL:ENSP00000415212.2", "ENSEMBL:ENSP00000416511", "ENSEMBL:ENSP00000416511.2"], "information_content": 100.0}
{"id": "NCBIGene:1880", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR183", "equivalent_identifiers": ["NCBIGene:1880", "ENSEMBL:ENSG00000169508", "HGNC:3128", "OMIM:605741", "UMLS:C1414233", "UniProtKB:P32249", "PR:P32249", "ENSEMBL:ENSP00000365596", "ENSEMBL:ENSP00000365596.4", "UMLS:C0657760", "UMLS:C3540501", "MESH:C080105"], "information_content": 89.4}
{"id": "UniProtKB:Q5T6J7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable gluconokinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T6J7-1", "PR:Q5T6J7-1", "ENSEMBL:ENSP00000365601", "ENSEMBL:ENSP00000365601.4"], "information_content": 100.0}
{"id": "UniProtKB:Q4V328-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GRIP1-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4V328-1", "PR:Q4V328-1", "ENSEMBL:ENSP00000365606", "ENSEMBL:ENSP00000365606.5", "ENSEMBL:ENSP00000518067", "ENSEMBL:ENSP00000518067.1"], "information_content": 100.0}
{"id": "NCBIGene:8449", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DHX16", "equivalent_identifiers": ["NCBIGene:8449", "ENSEMBL:ENSG00000204560", "HGNC:2739", "OMIM:603405", "UMLS:C1333208", "UniProtKB:A0A1U9X7L7", "UniProtKB:B4DZ28", "UniProtKB:O60231", "PR:O60231", "ENSEMBL:ENSP00000365625", "ENSEMBL:ENSP00000365625.3", "ENSEMBL:ENSP00000373071", "ENSEMBL:ENSP00000373071.4", "ENSEMBL:ENSP00000389862", "ENSEMBL:ENSP00000389862.2", "ENSEMBL:ENSP00000390938", "ENSEMBL:ENSP00000390938.2", "ENSEMBL:ENSP00000393958", "ENSEMBL:ENSP00000393958.2", "ENSEMBL:ENSP00000396193", "ENSEMBL:ENSP00000396193.2", "ENSEMBL:ENSP00000408956", "ENSEMBL:ENSP00000408956.2", "UMLS:C2975630", "MESH:C555647", "UniProtKB:Q5SQH4", "UniProtKB:Q5SQH5", "ENSEMBL:ENSP00000365620", "ENSEMBL:ENSP00000365620.5", "ENSEMBL:ENSP00000405391", "ENSEMBL:ENSP00000405391.2", "ENSEMBL:ENSP00000406462", "ENSEMBL:ENSP00000406462.2", "ENSEMBL:ENSP00000409038", "ENSEMBL:ENSP00000409038.2", "ENSEMBL:ENSP00000409091", "ENSEMBL:ENSP00000409091.2", "ENSEMBL:ENSP00000409558", "ENSEMBL:ENSP00000409558.2"], "information_content": 95.4}
{"id": "UniProtKB:Q8IZ41-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras and EF-hand domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZ41-1", "PR:Q8IZ41-1", "ENSEMBL:ENSP00000365630", "ENSEMBL:ENSP00000365630.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5T5P2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sickle tail protein homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T5P2-1", "PR:Q5T5P2-1", "ENSEMBL:ENSP00000365637", "ENSEMBL:ENSP00000365637.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZ29-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dedicator of cytokinesis protein 9 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZ29-5", "PR:Q9BZ29-5", "ENSEMBL:ENSP00000365643", "ENSEMBL:ENSP00000365643.1"], "information_content": 100.0}
{"id": "NCBIGene:4879", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPPB", "equivalent_identifiers": ["NCBIGene:4879", "ENSEMBL:ENSG00000120937", "HGNC:7940", "OMIM:600295", "UMLS:C1417808", "UniProtKB:P16860", "PR:P16860", "ENSEMBL:ENSP00000365651", "ENSEMBL:ENSP00000365651.3", "UMLS:C5441781", "UMLS:C5442037", "UMLS:C5574646", "DRUGBANK:DB19026"], "information_content": 100.0}
{"id": "MONDO:0004859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hydrops of gallbladder", "equivalent_identifiers": ["MONDO:0004859", "DOID:9717", "UMLS:C0152445", "MEDDRA:10017637", "MEDDRA:10020530", "MEDDRA:10054390", "MEDDRA:10056972", "SNOMEDCT:47312008", "medgen:509035", "icd11.foundation:532595534", "ICD10:K82.1", "ICD9:575.3"], "information_content": 100.0}
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{"id": "NCBIGene:220213", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTUD1", "equivalent_identifiers": ["NCBIGene:220213", "ENSEMBL:ENSG00000165312", "HGNC:27346", "OMIM:612022", "UMLS:C1538555", "UniProtKB:Q5VV17", "PR:Q5VV17", "ENSEMBL:ENSP00000365678", "ENSEMBL:ENSP00000365678.3", "UMLS:C3886064", "MESH:C000591845"], "information_content": 92.8}
{"id": "NCBIGene:7088", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLE1", "equivalent_identifiers": ["NCBIGene:7088", "ENSEMBL:ENSG00000196781", "HGNC:11837", "OMIM:600189", "UMLS:C1420752", "UniProtKB:B4DEF9", "UMLS:C0390821", "MESH:C499043", "UniProtKB:Q04724", "PR:Q04724", "ENSEMBL:ENSP00000365682", "ENSEMBL:ENSP00000365682.3", "UMLS:C3541273", "UniProtKB:Q59EF7"], "information_content": 87.2}
{"id": "NCBIGene:6564", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC15A1", "equivalent_identifiers": ["NCBIGene:6564", "ENSEMBL:ENSG00000088386", "HGNC:10920", "OMIM:600544", "UMLS:C1420100", "UniProtKB:B2CQT6", "UMLS:C1447232", "MESH:C082186", "UniProtKB:P46059", "PR:P46059", "ENSEMBL:ENSP00000365686", "ENSEMBL:ENSP00000365686.4"], "information_content": 100.0}
{"id": "NCBIGene:256297", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTF1A", "equivalent_identifiers": ["NCBIGene:256297", "ENSEMBL:ENSG00000168267", "HGNC:23734", "OMIM:607194", "UMLS:C1428235", "UniProtKB:Q7RTS3", "PR:Q7RTS3", "ENSEMBL:ENSP00000365687", "ENSEMBL:ENSP00000365687.3", "UMLS:C1609282"], "information_content": 100.0}
{"id": "NCBIGene:11040", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIM2", "equivalent_identifiers": ["NCBIGene:11040", "ENSEMBL:ENSG00000102096", "HGNC:8987", "OMIM:300295", "UMLS:C1418581", "UniProtKB:Q9P1W9", "PR:Q9P1W9", "ENSEMBL:ENSP00000365692", "ENSEMBL:ENSP00000365692.4", "ENSEMBL:ENSP00000518036", "ENSEMBL:ENSP00000518036.1", "UMLS:C1453189", "MESH:C490587"], "information_content": 95.4}
{"id": "NCBIGene:22921", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MSRB2", "equivalent_identifiers": ["NCBIGene:22921", "ENSEMBL:ENSG00000148450", "HGNC:17061", "OMIM:613782", "UMLS:C1537981", "UniProtKB:Q9Y3D2", "PR:Q9Y3D2", "ENSEMBL:ENSP00000365693", "ENSEMBL:ENSP00000365693.3", "UMLS:C0770077", "MESH:C120376"], "information_content": 95.4}
{"id": "NCBIGene:5514", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R10", "equivalent_identifiers": ["NCBIGene:5514", "ENSEMBL:ENSG00000204569", "HGNC:9284", "OMIM:603771", "UMLS:C1418822", "UniProtKB:Q2L6I0", "UMLS:C0670444", "MESH:C110225", "UniProtKB:Q96QC0", "PR:Q96QC0", "ENSEMBL:ENSP00000365694", "ENSEMBL:ENSP00000365694.2", "ENSEMBL:ENSP00000373080", "ENSEMBL:ENSP00000373080.4", "ENSEMBL:ENSP00000389299", "ENSEMBL:ENSP00000389299.2", "ENSEMBL:ENSP00000407181", "ENSEMBL:ENSP00000407181.2", "ENSEMBL:ENSP00000407310", "ENSEMBL:ENSP00000407310.2", "ENSEMBL:ENSP00000413554", "ENSEMBL:ENSP00000413554.2", "ENSEMBL:ENSP00000416060", "ENSEMBL:ENSP00000416060.2"], "information_content": 95.4}
{"id": "UniProtKB:Q9H313-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein tweety homolog 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9H313-3", "PR:Q9H313-3", "ENSEMBL:ENSP00000365714", "ENSEMBL:ENSP00000365714.3", "ENSEMBL:ENSP00000484548", "ENSEMBL:ENSP00000484548.1", "ENSEMBL:ENSP00000484835", "ENSEMBL:ENSP00000484835.1", "ENSEMBL:ENSP00000484881", "ENSEMBL:ENSP00000484881.1"], "information_content": 100.0}
{"id": "UniProtKB:Q04727-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transducin-like enhancer protein 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q04727-3", "PR:Q04727-3", "ENSEMBL:ENSP00000365720", "ENSEMBL:ENSP00000365720.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N2K0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysophosphatidylserine lipase ABHD12 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2K0-2", "PR:Q8N2K0-2", "ENSEMBL:ENSP00000365725", "ENSEMBL:ENSP00000365725.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6E0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase 24 isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6E0-1", "PR:Q9Y6E0-1", "ENSEMBL:ENSP00000365730", "ENSEMBL:ENSP00000365730.3"], "information_content": 100.0}
{"id": "UniProtKB:P79522-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P79522-1", "PR:P79522-1", "ENSEMBL:ENSP00000365744", "ENSEMBL:ENSP00000365744.4", "ENSEMBL:ENSP00000373086", "ENSEMBL:ENSP00000373086.4", "ENSEMBL:ENSP00000392826", "ENSEMBL:ENSP00000392826.2", "ENSEMBL:ENSP00000396416", "ENSEMBL:ENSP00000396416.2", "ENSEMBL:ENSP00000398352", "ENSEMBL:ENSP00000398352.2", "ENSEMBL:ENSP00000402596", "ENSEMBL:ENSP00000402596.2", "ENSEMBL:ENSP00000415432", "ENSEMBL:ENSP00000415432.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14247-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Src substrate cortactin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q14247-2", "PR:Q14247-2", "ENSEMBL:ENSP00000365745", "ENSEMBL:ENSP00000365745.3", "ENSEMBL:ENSP00000499998", "ENSEMBL:ENSP00000499998.1"], "information_content": 100.0}
{"id": "UniProtKB:P48426-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48426-1", "PR:P48426-1", "ENSEMBL:ENSP00000365757", "ENSEMBL:ENSP00000365757.4"], "information_content": 100.0}
{"id": "UniProtKB:P42898-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methylenetetrahydrofolate reductase (NADPH) isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P42898-2", "PR:P42898-2", "ENSEMBL:ENSP00000365767", "ENSEMBL:ENSP00000365767.3", "ENSEMBL:ENSP00000365770", "ENSEMBL:ENSP00000365770.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y617-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoserine aminotransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y617-1", "PR:Q9Y617-1", "ENSEMBL:ENSP00000365773", "ENSEMBL:ENSP00000365773.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5JTW2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 78 kDa isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5JTW2-2", "PR:Q5JTW2-2", "ENSEMBL:ENSP00000365782", "ENSEMBL:ENSP00000365782.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBN7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone deacetylase 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBN7-1", "PR:Q9UBN7-1", "ENSEMBL:ENSP00000334061", "ENSEMBL:ENSP00000334061.5", "ENSEMBL:ENSP00000365795", "ENSEMBL:ENSP00000365795.3", "ENSEMBL:ENSP00000365804", "ENSEMBL:ENSP00000365804.2", "ENSEMBL:ENSP00000365831", "ENSEMBL:ENSP00000365831.3", "ENSEMBL:ENSP00000392815", "ENSEMBL:ENSP00000392815.2", "ENSEMBL:ENSP00000394377", "ENSEMBL:ENSP00000394377.2", "ENSEMBL:ENSP00000402751", "ENSEMBL:ENSP00000402751.2", "ENSEMBL:ENSP00000496013", "ENSEMBL:ENSP00000496013.1", "ENSEMBL:ENSP00000496046", "ENSEMBL:ENSP00000496046.1"], "information_content": 100.0}
{"id": "UniProtKB:P36915-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein-like 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P36915-1", "PR:P36915-1", "ENSEMBL:ENSP00000365806", "ENSEMBL:ENSP00000365806.3", "ENSEMBL:ENSP00000373090", "ENSEMBL:ENSP00000373090.2", "ENSEMBL:ENSP00000394290", "ENSEMBL:ENSP00000394290.1", "ENSEMBL:ENSP00000403576", "ENSEMBL:ENSP00000403576.1", "ENSEMBL:ENSP00000409074", "ENSEMBL:ENSP00000409074.1", "ENSEMBL:ENSP00000409367", "ENSEMBL:ENSP00000409367.1", "ENSEMBL:ENSP00000411162", "ENSEMBL:ENSP00000411162.1"], "information_content": 100.0}
{"id": "NCBIGene:9630", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNA14", "equivalent_identifiers": ["NCBIGene:9630", "ENSEMBL:ENSG00000156049", "HGNC:4382", "OMIM:604397", "UMLS:C1415140", "UniProtKB:O95837", "PR:O95837", "ENSEMBL:ENSP00000365807", "ENSEMBL:ENSP00000365807.4", "UMLS:C1309073", "MESH:C119109"], "information_content": 95.4}
{"id": "UniProtKB:O75602-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sperm-associated antigen 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75602-1", "PR:O75602-1", "ENSEMBL:ENSP00000365811", "ENSEMBL:ENSP00000365811.3"], "information_content": 100.0}
{"id": "NCBIGene:3133", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLA-E", "equivalent_identifiers": ["NCBIGene:3133", "ENSEMBL:ENSG00000204592", "HGNC:4962", "OMIM:143010", "UMLS:C1415585", "UniProtKB:A0A4E9D3W4", "UniProtKB:A8K8M6", "UniProtKB:O19682", "UniProtKB:P13747", "PR:P13747", "ENSEMBL:ENSP00000365817", "ENSEMBL:ENSP00000365817.4", "ENSEMBL:ENSP00000373091", "ENSEMBL:ENSP00000373091.4", "ENSEMBL:ENSP00000390707", "ENSEMBL:ENSP00000390707.2", "ENSEMBL:ENSP00000397420", "ENSEMBL:ENSP00000397420.2", "ENSEMBL:ENSP00000400458", "ENSEMBL:ENSP00000400458.2", "ENSEMBL:ENSP00000402694", "ENSEMBL:ENSP00000402694.2", "ENSEMBL:ENSP00000409910", "ENSEMBL:ENSP00000409910.2", "UMLS:C0062887", "MESH:D000097625"], "information_content": 88.2}
{"id": "UniProtKB:Q9Y606-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pseudouridylate synthase 1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y606-1", "PR:Q9Y606-1", "ENSEMBL:ENSP00000365837", "ENSEMBL:ENSP00000365837.3"], "information_content": 100.0}
{"id": "NCBIGene:503834", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPRX", "equivalent_identifiers": ["NCBIGene:503834", "ENSEMBL:ENSG00000204595", "HGNC:32166", "OMIM:611165", "UMLS:C1824964", "UniProtKB:A6NFQ7", "PR:A6NFQ7", "ENSEMBL:ENSP00000365838", "ENSEMBL:ENSP00000365838.1", "ENSEMBL:ENSP00000518423", "ENSEMBL:ENSP00000518423.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCM9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM39 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCM9-1", "PR:Q9HCM9-1", "ENSEMBL:ENSP00000365844", "ENSEMBL:ENSP00000365844.4", "ENSEMBL:ENSP00000373096", "ENSEMBL:ENSP00000373096.2", "ENSEMBL:ENSP00000379796", "ENSEMBL:ENSP00000379796.1", "ENSEMBL:ENSP00000391917", "ENSEMBL:ENSP00000391917.1", "ENSEMBL:ENSP00000397043", "ENSEMBL:ENSP00000397043.1", "ENSEMBL:ENSP00000398355", "ENSEMBL:ENSP00000398355.1", "ENSEMBL:ENSP00000409902", "ENSEMBL:ENSP00000409902.1", "ENSEMBL:ENSP00000411949", "ENSEMBL:ENSP00000411949.1", "ENSEMBL:ENSP00000447835", "ENSEMBL:ENSP00000447835.1", "ENSEMBL:ENSP00000448462", "ENSEMBL:ENSP00000448462.1", "ENSEMBL:ENSP00000448572", "ENSEMBL:ENSP00000448572.1", "ENSEMBL:ENSP00000449272", "ENSEMBL:ENSP00000449272.1", "ENSEMBL:ENSP00000449847", "ENSEMBL:ENSP00000449847.1", "ENSEMBL:ENSP00000450288", "ENSEMBL:ENSP00000450288.1"], "information_content": 100.0}
{"id": "UniProtKB:P35226", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BMI1_HUMAN Polycomb complex protein BMI-1 (sprot)", "equivalent_identifiers": ["UniProtKB:P35226", "PR:P35226", "ENSEMBL:ENSP00000365851", "ENSEMBL:ENSP00000365851.3", "UMLS:C0106701", "MESH:C069077"], "information_content": 88.2}
{"id": "UniProtKB:P15976-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "erythroid transcription factor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P15976-1", "PR:P15976-1", "ENSEMBL:ENSP00000365858", "ENSEMBL:ENSP00000365858.3"], "information_content": 95.4}
{"id": "UniProtKB:Q5VZF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "muscleblind-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VZF2-1", "PR:Q5VZF2-1", "ENSEMBL:ENSP00000365861", "ENSEMBL:ENSP00000365861.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WV74-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial coenzyme A diphosphatase NUDT8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WV74-1", "PR:Q8WV74-1", "ENSEMBL:ENSP00000365883", "ENSEMBL:ENSP00000365883.2"], "information_content": 100.0}
{"id": "MONDO:0007764", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Worth syndrome", "equivalent_identifiers": ["MONDO:0007764", "DOID:0080037", "OMIM:144750", "orphanet:2790", "UMLS:C0432273", "MESH:C536748", "SNOMEDCT:254131007", "medgen:140932", "icd11.foundation:1038854228"], "information_content": 100.0}
{"id": "UniProtKB:Q9C019-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C019-1", "PR:Q9C019-1", "ENSEMBL:ENSP00000259930", "ENSEMBL:ENSP00000259930.6", "ENSEMBL:ENSP00000365884", "ENSEMBL:ENSP00000365884.4", "ENSEMBL:ENSP00000403221", "ENSEMBL:ENSP00000403221.2", "ENSEMBL:ENSP00000411683", "ENSEMBL:ENSP00000411683.2", "ENSEMBL:ENSP00000413961", "ENSEMBL:ENSP00000413961.2", "ENSEMBL:ENSP00000415480", "ENSEMBL:ENSP00000415480.2"], "information_content": 100.0}
{"id": "NCBIGene:7454", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WAS", "equivalent_identifiers": ["NCBIGene:7454", "ENSEMBL:ENSG00000015285", "HGNC:12731", "OMIM:300392", "UMLS:C1421478", "UniProtKB:A0A8V8TM35", "ENSEMBL:ENSP00000513850", "ENSEMBL:ENSP00000513850.1", "UniProtKB:P42768", "PR:P42768", "ENSEMBL:ENSP00000365891", "ENSEMBL:ENSP00000365891.4", "ENSEMBL:ENSP00000513844", "ENSEMBL:ENSP00000513844.1", "UMLS:C1565156", "MESH:C495767"], "information_content": 89.4}
{"id": "MONDO:0014689", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome", "equivalent_identifiers": ["MONDO:0014689", "DOID:0080592", "OMIM:616549", "orphanet:447974", "UMLS:C4225285", "SNOMEDCT:1217225001", "medgen:894399"], "information_content": 100.0}
{"id": "NCBIGene:266722", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HS6ST3", "equivalent_identifiers": ["NCBIGene:266722", "ENSEMBL:ENSG00000185352", "HGNC:19134", "OMIM:609401", "UMLS:C1426036", "UniProtKB:Q8IZP7", "PR:Q8IZP7", "ENSEMBL:ENSP00000365895", "ENSEMBL:ENSP00000365895.2", "UMLS:C3849807", "MESH:C000589146"], "information_content": 100.0}
{"id": "NCBIGene:442425", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXB2", "equivalent_identifiers": ["NCBIGene:442425", "ENSEMBL:ENSG00000204612", "HGNC:23315", "OMIM:619962", "UMLS:C1825309", "UniProtKB:Q5VYV0", "PR:Q5VYV0", "ENSEMBL:ENSP00000365898", "ENSEMBL:ENSP00000365898.1", "UMLS:C5391606", "MESH:C000706630"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZR4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "visual system homeobox 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZR4-1", "PR:Q9NZR4-1", "ENSEMBL:ENSP00000365899", "ENSEMBL:ENSP00000365899.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUY3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein prune homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUY3-1", "PR:Q8WUY3-1", "ENSEMBL:ENSP00000365908", "ENSEMBL:ENSP00000365908.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H1Z4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 13 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1Z4-1", "PR:Q9H1Z4-1", "ENSEMBL:ENSP00000218056", "ENSEMBL:ENSP00000218056.5", "ENSEMBL:ENSP00000365919", "ENSEMBL:ENSP00000365919.5"], "information_content": 100.0}
{"id": "MONDO:0034127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgA pemphigus", "equivalent_identifiers": ["MONDO:0034127", "DOID:0080851", "orphanet:555905", "UMLS:C1274167", "SNOMEDCT:402717008", "medgen:697519"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZY9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM31 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q9BZY9-1", "PR:Q9BZY9-1", "ENSEMBL:ENSP00000365924", "ENSEMBL:ENSP00000365924.3", "ENSEMBL:ENSP00000391685", "ENSEMBL:ENSP00000391685.2", "ENSEMBL:ENSP00000398677", "ENSEMBL:ENSP00000398677.2", "ENSEMBL:ENSP00000409501", "ENSEMBL:ENSP00000409501.2"], "information_content": 100.0}
{"id": "NCBIGene:55312", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RFK", "equivalent_identifiers": ["NCBIGene:55312", "ENSEMBL:ENSG00000135002", "HGNC:30324", "OMIM:613010", "UMLS:C1538827", "UniProtKB:B2RDZ2", "UniProtKB:Q969G6", "PR:Q969G6", "ENSEMBL:ENSP00000365926", "ENSEMBL:ENSP00000365926.1"], "information_content": 95.4}
{"id": "UniProtKB:Q02086-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor Sp2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02086-1", "PR:Q02086-1", "ENSEMBL:ENSP00000365931", "ENSEMBL:ENSP00000365931.4"], "information_content": 100.0}
{"id": "MONDO:0000302", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "basidiobolomycosis", "equivalent_identifiers": ["MONDO:0000302", "DOID:0050278", "UMLS:C0343965", "MEDDRA:10090300", "SNOMEDCT:4921002", "medgen:575966", "icd11.foundation:2087283296"], "information_content": 92.8}
{"id": "NCBIGene:26270", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXO6", "equivalent_identifiers": ["NCBIGene:26270", "ENSEMBL:ENSG00000116663", "HGNC:13585", "OMIM:605647", "UMLS:C1422080", "UniProtKB:Q9NRD1", "PR:Q9NRD1", "ENSEMBL:ENSP00000365944", "ENSEMBL:ENSP00000365944.4", "UMLS:C1432807", "MESH:C479752"], "information_content": 100.0}
{"id": "NCBIGene:5935", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBM3", "equivalent_identifiers": ["NCBIGene:5935", "ENSEMBL:ENSG00000102317", "HGNC:9900", "OMIM:300027", "UMLS:C1419299", "UniProtKB:P98179", "PR:P98179", "ENSEMBL:ENSP00000365946", "ENSEMBL:ENSP00000365946.1", "ENSEMBL:ENSP00000365950", "ENSEMBL:ENSP00000365950.3", "UMLS:C1438186", "MESH:C099506"], "information_content": 100.0}
{"id": "UniProtKB:Q3MII6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 25 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3MII6-1", "PR:Q3MII6-1", "ENSEMBL:ENSP00000365962", "ENSEMBL:ENSP00000365962.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5Z9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UbiA prenyltransferase domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5Z9-1", "PR:Q9Y5Z9-1", "ENSEMBL:ENSP00000366006", "ENSEMBL:ENSP00000366006.5"], "information_content": 100.0}
{"id": "MONDO:0008777", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gelatinous drop-like corneal dystrophy", "equivalent_identifiers": ["MONDO:0008777", "DOID:0060449", "OMIM:204870", "orphanet:98957", "UMLS:C0339273", "MESH:C535480", "NCIT:C142805", "SNOMEDCT:419900000", "medgen:90939", "icd11.foundation:1062815669"], "information_content": 100.0}
{"id": "NCBIGene:54981", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NMRK1", "equivalent_identifiers": ["NCBIGene:54981", "ENSEMBL:ENSG00000106733", "HGNC:26057", "OMIM:608704", "UMLS:C1428549", "UniProtKB:B3KUG3", "UMLS:C1453220", "MESH:C487431", "UniProtKB:Q5W125", "ENSEMBL:ENSP00000366007", "ENSEMBL:ENSP00000366007.1", "UniProtKB:Q9NWW6", "PR:Q9NWW6"]}
{"id": "NCBIGene:10218", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANGPTL7", "equivalent_identifiers": ["NCBIGene:10218", "ENSEMBL:ENSG00000171819", "HGNC:24078", "OMIM:618517", "UMLS:C1538275", "UniProtKB:O43827", "PR:O43827", "ENSEMBL:ENSP00000366015", "ENSEMBL:ENSP00000366015.3", "UMLS:C2604171", "MESH:C530622"], "information_content": 100.0}
{"id": "NCBIGene:3135", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLA-G", "equivalent_identifiers": ["NCBIGene:3135", "ENSEMBL:ENSG00000204632", "HGNC:4964", "OMIM:142871", "UMLS:C1415587", "UniProtKB:A0A0G2JNX1", "ENSEMBL:ENSP00000479043", "ENSEMBL:ENSP00000479043.1", "ENSEMBL:ENSP00000482272", "ENSEMBL:ENSP00000482272.1", "UniProtKB:P17693", "PR:P17693", "UMLS:C3538699", "UniProtKB:Q31611", "UniProtKB:Q5RJ85", "ENSEMBL:ENSP00000366024", "ENSEMBL:ENSP00000366024.2", "ENSEMBL:ENSP00000383506", "ENSEMBL:ENSP00000383506.1", "ENSEMBL:ENSP00000383521", "ENSEMBL:ENSP00000383521.1", "ENSEMBL:ENSP00000387624", "ENSEMBL:ENSP00000387624.1", "ENSEMBL:ENSP00000392347", "ENSEMBL:ENSP00000392347.1", "ENSEMBL:ENSP00000397331", "ENSEMBL:ENSP00000397331.1", "ENSEMBL:ENSP00000409132", "ENSEMBL:ENSP00000409132.1", "UniProtKB:Q6DU14", "UniProtKB:Q8MH48", "ENSEMBL:ENSP00000479303", "ENSEMBL:ENSP00000479303.1", "ENSEMBL:ENSP00000482111", "ENSEMBL:ENSP00000482111.1"]}
{"id": "NCBIGene:138199", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CARNMT1", "equivalent_identifiers": ["NCBIGene:138199", "ENSEMBL:ENSG00000156017", "HGNC:23435", "OMIM:616552", "UMLS:C1428084", "UniProtKB:Q8N4J0", "PR:Q8N4J0", "ENSEMBL:ENSP00000366030", "ENSEMBL:ENSP00000366030.3", "UMLS:C5226428", "MESH:C000634095"], "information_content": 95.4}
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{"id": "UniProtKB:Q92876-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kallikrein-6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92876-1", "PR:Q92876-1", "ENSEMBL:ENSP00000309148", "ENSEMBL:ENSP00000309148.1", "ENSEMBL:ENSP00000366047", "ENSEMBL:ENSP00000366047.2", "ENSEMBL:ENSP00000470482", "ENSEMBL:ENSP00000470482.1"], "information_content": 100.0}
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{"id": "MONDO:0010382", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fragile X-associated tremor/ataxia syndrome", "equivalent_identifiers": ["MONDO:0010382", "DOID:0050879", "OMIM:300623", "orphanet:93256", "UMLS:C1839780", "MESH:C564105", "NCIT:C126566", "SNOMEDCT:448045004", "medgen:333403"], "information_content": 100.0}
{"id": "UniProtKB:Q16653-13", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myelin-oligodendrocyte glycoprotein isoform h13 (human)", "equivalent_identifiers": ["UniProtKB:Q16653-13", "PR:Q16653-13", "ENSEMBL:ENSP00000366091", "ENSEMBL:ENSP00000366091.4"], "information_content": 100.0}
{"id": "UniProtKB:Q92753-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor ROR-beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92753-1", "PR:Q92753-1", "ENSEMBL:ENSP00000366093", "ENSEMBL:ENSP00000366093.2"], "information_content": 100.0}
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{"id": "NCBIGene:301", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANXA1", "equivalent_identifiers": ["NCBIGene:301", "ENSEMBL:ENSG00000135046", "HGNC:533", "OMIM:151690", "UMLS:C1412417", "UniProtKB:P04083", "PR:P04083", "ENSEMBL:ENSP00000257497", "ENSEMBL:ENSP00000257497.6", "ENSEMBL:ENSP00000366109", "ENSEMBL:ENSP00000366109.1", "UMLS:C5197324", "MESH:C000631986", "UniProtKB:Q5TZZ9"], "information_content": 90.9}
{"id": "NCBIGene:6756", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSX1", "equivalent_identifiers": ["NCBIGene:6756", "ENSEMBL:ENSG00000126752", "HGNC:11335", "OMIM:312820", "UMLS:C1420434", "UniProtKB:Q16384", "PR:Q16384", "ENSEMBL:ENSP00000366118", "ENSEMBL:ENSP00000366118.3", "UMLS:C1611010", "UMLS:C3273637"], "information_content": 100.0}
{"id": "MONDO:0009807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteosarcoma", "equivalent_identifiers": ["MONDO:0009807", "DOID:3347", "EFO:0000637", "UMLS:C0206639", "MESH:D012516", "MESH:D018213", "medgen:10501"], "information_content": 77.8}
{"id": "MONDO:0001340", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "heart cancer", "equivalent_identifiers": ["MONDO:0001340", "DOID:117", "UMLS:C0153500", "MESH:D006338", "MEDDRA:10007589", "MEDDRA:10025543", "MEDDRA:10025961", "MEDDRA:10061025", "NCIT:C3548", "SNOMEDCT:363435002", "medgen:57787", "ICD9:164.1"], "information_content": 78.3}
{"id": "UniProtKB:Q01780-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exosome complex component 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01780-1", "PR:Q01780-1", "ENSEMBL:ENSP00000366135", "ENSEMBL:ENSP00000366135.4"], "information_content": 100.0}
{"id": "NCBIGene:11166", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOX21", "equivalent_identifiers": ["NCBIGene:11166", "ENSEMBL:ENSG00000125285", "HGNC:11197", "OMIM:604974", "UMLS:C1420324", "UniProtKB:Q9Y651", "PR:Q9Y651", "ENSEMBL:ENSP00000366144", "ENSEMBL:ENSP00000366144.2", "UMLS:C1436201", "MESH:C484488"], "information_content": 95.4}
{"id": "NCBIGene:347344", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF81", "equivalent_identifiers": ["NCBIGene:347344", "ENSEMBL:ENSG00000197779", "HGNC:13156", "OMIM:314998", "UMLS:C1421840", "UniProtKB:P51508", "PR:P51508", "ENSEMBL:ENSP00000341151", "ENSEMBL:ENSP00000341151.7", "ENSEMBL:ENSP00000366153", "ENSEMBL:ENSP00000366153.1", "UMLS:C0259361", "MESH:C089460"], "information_content": 92.8}
{"id": "NCBIGene:6723", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRM", "equivalent_identifiers": ["NCBIGene:6723", "ENSEMBL:ENSG00000116649", "HGNC:11296", "OMIM:182891", "UMLS:C1420404", "UniProtKB:P19623", "PR:P19623", "ENSEMBL:ENSP00000366156", "ENSEMBL:ENSP00000366156.2"], "information_content": 92.8}
{"id": "NCBIGene:160897", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR180", "equivalent_identifiers": ["NCBIGene:160897", "ENSEMBL:ENSG00000152749", "HGNC:28899", "OMIM:607787", "UMLS:C1825412", "UniProtKB:Q86V85", "PR:Q86V85", "ENSEMBL:ENSP00000366157", "ENSEMBL:ENSP00000366157.4", "UMLS:C1313071", "UMLS:C4723809", "MESH:C478763"], "information_content": 100.0}
{"id": "NCBIGene:7763", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFAND5", "equivalent_identifiers": ["NCBIGene:7763", "ENSEMBL:ENSG00000107372", "HGNC:13008", "OMIM:604761", "UMLS:C1823944", "UniProtKB:O76080", "PR:O76080", "ENSEMBL:ENSP00000237937", "ENSEMBL:ENSP00000237937.3", "ENSEMBL:ENSP00000350586", "ENSEMBL:ENSP00000350586.2", "ENSEMBL:ENSP00000366159", "ENSEMBL:ENSP00000366159.4", "ENSEMBL:ENSP00000366161", "ENSEMBL:ENSP00000366161.5", "UMLS:C1308730", "MESH:C114488"], "information_content": 90.9}
{"id": "NCBIGene:128822", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CST9", "equivalent_identifiers": ["NCBIGene:128822", "ENSEMBL:ENSG00000173335", "HGNC:13261", "OMIM:616543", "UMLS:C1539143", "UniProtKB:Q5W186", "PR:Q5W186", "ENSEMBL:ENSP00000366170", "ENSEMBL:ENSP00000366170.4", "UMLS:C1175374", "MESH:C472711"], "information_content": 100.0}
{"id": "NCBIGene:128821", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CST9L", "equivalent_identifiers": ["NCBIGene:128821", "ENSEMBL:ENSG00000101435", "HGNC:16233", "OMIM:616536", "UMLS:C1424109", "UniProtKB:A0A140VJH1", "UMLS:C1435267", "MESH:C485490", "UniProtKB:Q9H4G1", "PR:Q9H4G1", "ENSEMBL:ENSP00000366178", "ENSEMBL:ENSP00000366178.3"], "information_content": 100.0}
{"id": "NCBIGene:64215", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJC1", "equivalent_identifiers": ["NCBIGene:64215", "ENSEMBL:ENSG00000136770", "HGNC:20090", "OMIM:611207", "UMLS:C1426675", "UniProtKB:Q96KC8", "PR:Q96KC8", "ENSEMBL:ENSP00000366179", "ENSEMBL:ENSP00000366179.3", "UMLS:C1451531", "MESH:C485368"], "information_content": 95.4}
{"id": "MONDO:0000497", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyometritis", "equivalent_identifiers": ["MONDO:0000497", "DOID:0050862", "UMLS:C0034215", "MESH:D055112", "MEDDRA:10037651", "NCIT:C121207", "SNOMEDCT:88981003", "medgen:18784"], "information_content": 95.4}
{"id": "UniProtKB:P19419-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS domain-containing protein Elk-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P19419-1", "PR:P19419-1", "ENSEMBL:ENSP00000247161", "ENSEMBL:ENSP00000247161.3", "ENSEMBL:ENSP00000366182", "ENSEMBL:ENSP00000366182.3"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000366203", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000366203", "equivalent_identifiers": ["ENSEMBL:ENSP00000366203"]}
{"id": "MONDO:0014770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 25", "equivalent_identifiers": ["MONDO:0014770", "DOID:0110994", "OMIM:616781", "UMLS:C4084842", "medgen:895764"], "information_content": 100.0}
{"id": "MONDO:0010431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 10", "equivalent_identifiers": ["MONDO:0010431", "DOID:0110981", "OMIM:300804", "UMLS:C2749019", "MESH:C567582", "medgen:440688"], "information_content": 100.0}
{"id": "UniProtKB:Q9H112-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cystatin-11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H112-1", "PR:Q9H112-1", "ENSEMBL:ENSP00000366208", "ENSEMBL:ENSP00000366208.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86V15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein castor homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86V15-1", "PR:Q86V15-1", "ENSEMBL:ENSP00000366221", "ENSEMBL:ENSP00000366221.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5W0N0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C9orf57 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5W0N0-1", "PR:Q5W0N0-1", "ENSEMBL:ENSP00000366223", "ENSEMBL:ENSP00000366223.3"], "information_content": 100.0}
{"id": "MONDO:0010860", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 3", "equivalent_identifiers": ["MONDO:0010860", "DOID:0110488", "OMIM:600316", "UMLS:C1838263", "MESH:C563961", "medgen:325373"], "information_content": 100.0}
{"id": "MONDO:0010807", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 2", "equivalent_identifiers": ["MONDO:0010807", "DOID:0110477", "OMIM:600060", "UMLS:C1838701", "MESH:C564007", "medgen:325485"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBS5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-aminobutyric acid type B receptor subunit 1 isoform h1A (human)", "equivalent_identifiers": ["UniProtKB:Q9UBS5-1", "PR:Q9UBS5-1", "ENSEMBL:ENSP00000366233", "ENSEMBL:ENSP00000366233.4", "ENSEMBL:ENSP00000373034", "ENSEMBL:ENSP00000373034.4", "ENSEMBL:ENSP00000373134", "ENSEMBL:ENSP00000373134.4", "ENSEMBL:ENSP00000388035", "ENSEMBL:ENSP00000388035.2", "ENSEMBL:ENSP00000406066", "ENSEMBL:ENSP00000406066.1", "ENSEMBL:ENSP00000411286", "ENSEMBL:ENSP00000411286.2", "ENSEMBL:ENSP00000419755", "ENSEMBL:ENSP00000419755.2", "ENSEMBL:ENSP00000448999", "ENSEMBL:ENSP00000448999.1", "ENSEMBL:ENSP00000516435", "ENSEMBL:ENSP00000516435.1"], "information_content": 100.0}
{"id": "NCBIGene:386653", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL31", "equivalent_identifiers": ["NCBIGene:386653", "ENSEMBL:ENSG00000204671", "HGNC:19372", "OMIM:609509", "UMLS:C1426200", "UniProtKB:Q6EBC2", "PR:Q6EBC2", "ENSEMBL:ENSP00000366234", "ENSEMBL:ENSP00000366234.1", "UMLS:C1571097", "MESH:C502187"], "information_content": 95.4}
{"id": "UniProtKB:O00273-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA fragmentation factor subunit alpha isoform DFF45 (human)", "equivalent_identifiers": ["UniProtKB:O00273-1", "PR:O00273-1", "ENSEMBL:ENSP00000366237", "ENSEMBL:ENSP00000366237.3"], "information_content": 100.0}
{"id": "MONDO:0001632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intracranial arteriosclerosis", "equivalent_identifiers": ["MONDO:0001632", "DOID:13097", "UMLS:C0007771", "MESH:D002537", "medgen:3319"], "information_content": 100.0}
{"id": "UniProtKB:Q5VST6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha/beta hydrolase domain-containing protein 17B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5VST6-2", "PR:Q5VST6-2", "ENSEMBL:ENSP00000366240", "ENSEMBL:ENSP00000366240.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHN6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell surface hyaluronidase CEMIP2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHN6-1", "PR:Q9UHN6-1", "ENSEMBL:ENSP00000366243", "ENSEMBL:ENSP00000366243.4"], "information_content": 100.0}
{"id": "NCBIGene:10082", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPC6", "equivalent_identifiers": ["NCBIGene:10082", "ENSEMBL:ENSG00000183098", "HGNC:4454", "OMIM:604404", "UMLS:C1415198", "UniProtKB:Q9Y625", "PR:Q9Y625", "ENSEMBL:ENSP00000366246", "ENSEMBL:ENSP00000366246.3", "UMLS:C1438417", "MESH:C120300"], "information_content": 95.4}
{"id": "NCBIGene:1325", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CORT", "equivalent_identifiers": ["NCBIGene:1325", "ENSEMBL:ENSG00000241563", "HGNC:2257", "OMIM:602784", "UMLS:C1413627", "UniProtKB:O00230", "PR:O00230", "ENSEMBL:ENSP00000366248", "ENSEMBL:ENSP00000366248.4", "UMLS:C0537387", "MESH:C105172", "UniProtKB:Q8IUV6"], "information_content": 100.0}
{"id": "NCBIGene:10537", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBD", "equivalent_identifiers": ["NCBIGene:10537", "ENSEMBL:ENSG00000213886", "HGNC:18795", "OMIM:606050", "UMLS:C1425779", "UniProtKB:A0A1U9X8S6", "UniProtKB:O15205", "PR:O15205", "ENSEMBL:ENSP00000366249", "ENSEMBL:ENSP00000366249.4", "ENSEMBL:ENSP00000373039", "ENSEMBL:ENSP00000373039.3", "ENSEMBL:ENSP00000396152", "ENSEMBL:ENSP00000396152.2", "ENSEMBL:ENSP00000410416", "ENSEMBL:ENSP00000410416.2", "UMLS:C1431046", "MESH:C109184"], "information_content": 90.9}
{"id": "UniProtKB:P51814-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 41 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:P51814-6", "PR:P51814-6", "ENSEMBL:ENSP00000315173", "ENSEMBL:ENSP00000315173.7", "ENSEMBL:ENSP00000366265", "ENSEMBL:ENSP00000366265.4", "ENSEMBL:ENSP00000508254", "ENSEMBL:ENSP00000508254.1"], "information_content": 100.0}
{"id": "NCBIGene:2262", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPC5", "equivalent_identifiers": ["NCBIGene:2262", "ENSEMBL:ENSG00000179399", "HGNC:4453", "OMIM:602446", "UMLS:C1415197", "UniProtKB:P78333", "PR:P78333", "ENSEMBL:ENSP00000366267", "ENSEMBL:ENSP00000366267.3", "UMLS:C1571489", "MESH:C106228"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHM5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHM5-1", "PR:Q8NHM5-1", "ENSEMBL:ENSP00000366271", "ENSEMBL:ENSP00000366271.3"], "information_content": 100.0}
{"id": "NCBIGene:7712", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF157", "equivalent_identifiers": ["NCBIGene:7712", "ENSEMBL:ENSG00000147117", "HGNC:12942", "OMIM:300024", "UMLS:C1421644", "UniProtKB:P51786", "PR:P51786", "ENSEMBL:ENSP00000366273", "ENSEMBL:ENSP00000366273.4"], "information_content": 95.4}
{"id": "UniProtKB:Q6P4Q7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metal transporter CNNM4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P4Q7-1", "PR:Q6P4Q7-1", "ENSEMBL:ENSP00000366275", "ENSEMBL:ENSP00000366275.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0V9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "VIP36-like protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0V9-2", "PR:Q9H0V9-2", "ENSEMBL:ENSP00000366280", "ENSEMBL:ENSP00000366280.4"], "information_content": 100.0}
{"id": "UniProtKB:O94991-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SLIT and NTRK-like protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94991-1", "PR:O94991-1", "ENSEMBL:ENSP00000366283", "ENSEMBL:ENSP00000366283.2", "ENSEMBL:ENSP00000508338", "ENSEMBL:ENSP00000508338.1"], "information_content": 100.0}
{"id": "NCBIGene:114798", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLITRK1", "equivalent_identifiers": ["NCBIGene:114798", "ENSEMBL:ENSG00000178235", "HGNC:20297", "OMIM:609678", "UMLS:C1426840", "UniProtKB:Q96PX8", "PR:Q96PX8", "ENSEMBL:ENSP00000366288", "ENSEMBL:ENSP00000366288.2", "ENSEMBL:ENSP00000501349", "ENSEMBL:ENSP00000501349.1", "UMLS:C1614483", "MESH:C505093"], "information_content": 92.8}
{"id": "UniProtKB:Q9BZJ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial glutathione transporter SLC25A39 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZJ4-1", "PR:Q9BZJ4-1", "ENSEMBL:ENSP00000366299", "ENSEMBL:ENSP00000366299.4"], "information_content": 100.0}
{"id": "NCBIGene:10253", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPRY2", "equivalent_identifiers": ["NCBIGene:10253", "ENSEMBL:ENSG00000136158", "HGNC:11270", "OMIM:602466", "UMLS:C1420383", "UniProtKB:O43597", "PR:O43597", "ENSEMBL:ENSP00000366306", "ENSEMBL:ENSP00000366306.1", "ENSEMBL:ENSP00000366308", "ENSEMBL:ENSP00000366308.3", "UMLS:C0765742", "UMLS:C3813608", "MESH:C485561"], "information_content": 82.1}
{"id": "NCBIGene:7056", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THBD", "equivalent_identifiers": ["NCBIGene:7056", "ENSEMBL:ENSG00000178726", "HGNC:11784", "OMIM:188040", "UMLS:C1420720", "UniProtKB:P07204", "PR:P07204", "ENSEMBL:ENSP00000366307", "ENSEMBL:ENSP00000366307.2", "UMLS:C2744539", "MESH:C546931"], "information_content": 83.6}
{"id": "UniProtKB:Q9HCF6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transient receptor potential cation channel subfamily M member 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCF6-2", "PR:Q9HCF6-2", "ENSEMBL:ENSP00000366314", "ENSEMBL:ENSP00000366314.4"], "information_content": 100.0}
{"id": "UniProtKB:O76041-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nebulette isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O76041-1", "PR:O76041-1", "ENSEMBL:ENSP00000366326", "ENSEMBL:ENSP00000366326.4"], "information_content": 100.0}
{"id": "NCBIGene:687", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLF9", "equivalent_identifiers": ["NCBIGene:687", "ENSEMBL:ENSG00000119138", "HGNC:1123", "OMIM:602902", "UMLS:C1537487", "UniProtKB:Q13886", "PR:Q13886", "ENSEMBL:ENSP00000366330", "ENSEMBL:ENSP00000366330.2", "UMLS:C1455506", "MESH:C489676"], "information_content": 100.0}
{"id": "NCBIGene:116511", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAS1L", "equivalent_identifiers": ["NCBIGene:116511", "ENSEMBL:ENSG00000204687", "HGNC:13961", "OMIM:607235", "UMLS:C1422304", "UniProtKB:P35410", "PR:P35410", "ENSEMBL:ENSP00000366331", "ENSEMBL:ENSP00000366331.3", "ENSEMBL:ENSP00000373041", "ENSEMBL:ENSP00000373041.2", "ENSEMBL:ENSP00000373139", "ENSEMBL:ENSP00000373139.2", "ENSEMBL:ENSP00000392071", "ENSEMBL:ENSP00000392071.2", "ENSEMBL:ENSP00000399042", "ENSEMBL:ENSP00000399042.2", "ENSEMBL:ENSP00000405030", "ENSEMBL:ENSP00000405030.2", "ENSEMBL:ENSP00000405164", "ENSEMBL:ENSP00000405164.2", "ENSEMBL:ENSP00000410649", "ENSEMBL:ENSP00000410649.2", "UniProtKB:Q502V9"], "information_content": 100.0}
{"id": "NCBIGene:4821", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKX2-2", "equivalent_identifiers": ["NCBIGene:4821", "ENSEMBL:ENSG00000125820", "HGNC:7835", "OMIM:604612", "UMLS:C1417735", "UniProtKB:O95096", "PR:O95096", "ENSEMBL:ENSP00000366347", "ENSEMBL:ENSP00000366347.4", "UMLS:C5565132", "MESH:C000715631"], "information_content": 95.4}
{"id": "MONDO:0000569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autoimmune disorder of endocrine system", "equivalent_identifiers": ["MONDO:0000569", "DOID:0060005", "UMLS:C0342552", "MEDDRA:10003818", "MEDDRA:10078953", "SNOMEDCT:237822008", "medgen:575099"], "information_content": 71.4}
{"id": "NCBIGene:442184", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2B3", "equivalent_identifiers": ["NCBIGene:442184", "ENSEMBL:ENSG00000204703", "HGNC:8238", "UMLS:C1418020", "UniProtKB:A0A126GV76", "UniProtKB:O76000", "PR:O76000", "ENSEMBL:ENSP00000366378", "ENSEMBL:ENSP00000366378.2", "ENSEMBL:ENSP00000373149", "ENSEMBL:ENSP00000373149.3", "ENSEMBL:ENSP00000388604", "ENSEMBL:ENSP00000388604.2", "ENSEMBL:ENSP00000393235", "ENSEMBL:ENSP00000393235.2", "ENSEMBL:ENSP00000394571", "ENSEMBL:ENSP00000394571.2", "ENSEMBL:ENSP00000394593", "ENSEMBL:ENSP00000394593.2", "ENSEMBL:ENSP00000399881", "ENSEMBL:ENSP00000399881.2", "ENSEMBL:ENSP00000403571", "ENSEMBL:ENSP00000403571.2"], "information_content": 95.4}
{"id": "MONDO:0006564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "irritant dermatitis", "equivalent_identifiers": ["MONDO:0006564", "DOID:2772", "EFO:1000718", "UMLS:C0162823", "MESH:D017453", "MEDDRA:10056540", "NCIT:C27151", "SNOMEDCT:110979008", "medgen:56513", "ICD10:L24.9"], "information_content": 95.4}
{"id": "DOID:0080816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset severe asthma", "equivalent_identifiers": ["DOID:0080816"]}
{"id": "NCBIGene:282890", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF311", "equivalent_identifiers": ["NCBIGene:282890", "ENSEMBL:ENSG00000197935", "HGNC:13847", "UMLS:C1422231", "UniProtKB:A0A1U9X8W3", "UMLS:C5564877", "MESH:C000719284", "UniProtKB:A0A1U9X8W6", "UniProtKB:A8K1G6", "UniProtKB:Q5JNZ3", "PR:Q5JNZ3", "ENSEMBL:ENSP00000366384", "ENSEMBL:ENSP00000366384.3", "ENSEMBL:ENSP00000373151", "ENSEMBL:ENSP00000373151.4", "ENSEMBL:ENSP00000398440", "ENSEMBL:ENSP00000398440.2", "ENSEMBL:ENSP00000398983", "ENSEMBL:ENSP00000398983.2", "ENSEMBL:ENSP00000399157", "ENSEMBL:ENSP00000399157.2", "ENSEMBL:ENSP00000405154", "ENSEMBL:ENSP00000405154.2", "ENSEMBL:ENSP00000415772", "ENSEMBL:ENSP00000415772.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z304-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAM domain-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z304-1", "PR:Q7Z304-1", "ENSEMBL:ENSP00000366387", "ENSEMBL:ENSP00000366387.4"], "information_content": 100.0}
{"id": "NCBIGene:387778", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPDYC", "equivalent_identifiers": ["NCBIGene:387778", "ENSEMBL:ENSG00000204710", "HGNC:32681", "OMIM:614030", "UMLS:C1823095", "UniProtKB:Q5MJ68", "PR:Q5MJ68", "ENSEMBL:ENSP00000366390", "ENSEMBL:ENSP00000366390.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86TM6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase synoviolin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86TM6-1", "PR:Q86TM6-1", "ENSEMBL:ENSP00000366395", "ENSEMBL:ENSP00000366395.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0D6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5'-3' exoribonuclease 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0D6-1", "PR:Q9H0D6-1", "ENSEMBL:ENSP00000366396", "ENSEMBL:ENSP00000366396.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5VTT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 95 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VTT2-1", "PR:Q5VTT2-1", "ENSEMBL:ENSP00000366402", "ENSEMBL:ENSP00000366402.3"], "information_content": 100.0}
{"id": "UniProtKB:P14373-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein RFP isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:P14373-1", "PR:P14373-1", "ENSEMBL:ENSP00000366404", "ENSEMBL:ENSP00000366404.3", "ENSEMBL:ENSP00000383555", "ENSEMBL:ENSP00000383555.3", "ENSEMBL:ENSP00000392787", "ENSEMBL:ENSP00000392787.2", "ENSEMBL:ENSP00000405229", "ENSEMBL:ENSP00000405229.2", "ENSEMBL:ENSP00000414793", "ENSEMBL:ENSP00000414793.2"], "information_content": 100.0}
{"id": "NCBIGene:64802", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NMNAT1", "equivalent_identifiers": ["NCBIGene:64802", "ENSEMBL:ENSG00000173614", "HGNC:17877", "OMIM:608700", "UMLS:C1425150", "UniProtKB:B1AN62", "ENSEMBL:ENSP00000385131", "ENSEMBL:ENSP00000385131.1", "UMLS:C1433901", "MESH:C484007", "UniProtKB:Q9HAN9", "PR:Q9HAN9", "ENSEMBL:ENSP00000366410", "ENSEMBL:ENSP00000366410.1", "ENSEMBL:ENSP00000435134", "ENSEMBL:ENSP00000435134.1"], "information_content": 86.3}
{"id": "MONDO:0031007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis", "equivalent_identifiers": ["MONDO:0031007", "DOID:0112290", "OMIM:619260", "orphanet:611207", "UMLS:C5543257", "SNOMEDCT:1356736002", "medgen:1780157"], "information_content": 100.0}
{"id": "UniProtKB:Q01851-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POU domain, class 4, transcription factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01851-1", "PR:Q01851-1", "ENSEMBL:ENSP00000366413", "ENSEMBL:ENSP00000366413.4"], "information_content": 100.0}
{"id": "UniProtKB:P24530-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endothelin receptor type B isoform C (human)", "equivalent_identifiers": ["UniProtKB:P24530-3", "PR:P24530-3", "ENSEMBL:ENSP00000366416", "ENSEMBL:ENSP00000366416.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8WZA0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein LZIC isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WZA0-1", "PR:Q8WZA0-1", "ENSEMBL:ENSP00000366418", "ENSEMBL:ENSP00000366418.1", "ENSEMBL:ENSP00000366430", "ENSEMBL:ENSP00000366430.1", "ENSEMBL:ENSP00000383695", "ENSEMBL:ENSP00000383695.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRS6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRS6-1", "PR:Q9NRS6-1", "ENSEMBL:ENSP00000366452", "ENSEMBL:ENSP00000366452.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6UX71-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plexin domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UX71-1", "PR:Q6UX71-1", "ENSEMBL:ENSP00000366460", "ENSEMBL:ENSP00000366460.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRR0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein with KRAB and SCAN domains 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRR0-1", "PR:Q9BRR0-1", "ENSEMBL:ENSP00000252211", "ENSEMBL:ENSP00000252211.2", "ENSEMBL:ENSP00000366465", "ENSEMBL:ENSP00000366465.1"], "information_content": 100.0}
{"id": "NCBIGene:56998", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTNNBIP1", "equivalent_identifiers": ["NCBIGene:56998", "ENSEMBL:ENSG00000178585", "HGNC:16913", "OMIM:607758", "UMLS:C1424630", "UniProtKB:Q9NSA3", "PR:Q9NSA3", "ENSEMBL:ENSP00000366466", "ENSEMBL:ENSP00000366466.1", "ENSEMBL:ENSP00000366468", "ENSEMBL:ENSP00000366468.1", "ENSEMBL:ENSP00000366474", "ENSEMBL:ENSP00000366474.1", "ENSEMBL:ENSP00000383696", "ENSEMBL:ENSP00000383696.3", "UMLS:C1439109", "MESH:C411982"], "information_content": 95.4}
{"id": "UniProtKB:Q2TAZ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "autophagy-related protein 2 homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2TAZ0-1", "PR:Q2TAZ0-1", "ENSEMBL:ENSP00000366475", "ENSEMBL:ENSP00000366475.3"], "information_content": 100.0}
{"id": "NCBIGene:221079", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARL5B", "equivalent_identifiers": ["NCBIGene:221079", "ENSEMBL:ENSG00000165997", "HGNC:23052", "OMIM:608909", "UMLS:C1824206", "UniProtKB:B0YIW9", "UMLS:C1571683", "MESH:C477339", "UniProtKB:Q96KC2", "PR:Q96KC2", "ENSEMBL:ENSP00000366487", "ENSEMBL:ENSP00000366487.3"], "information_content": 95.4}
{"id": "NCBIGene:5568", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRKACG", "equivalent_identifiers": ["NCBIGene:5568", "ENSEMBL:ENSG00000165059", "HGNC:9382", "OMIM:176893", "UMLS:C1418903", "UniProtKB:P22612", "PR:P22612", "ENSEMBL:ENSP00000366488", "ENSEMBL:ENSP00000366488.2", "UMLS:C1514551", "MESH:C517763"], "information_content": 92.8}
{"id": "UniProtKB:P25021-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histamine H2 receptor isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P25021-2", "PR:P25021-2", "ENSEMBL:ENSP00000366506", "ENSEMBL:ENSP00000366506.2"], "information_content": 100.0}
{"id": "NCBIGene:387032", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZKSCAN4", "equivalent_identifiers": ["NCBIGene:387032", "ENSEMBL:ENSG00000187626", "HGNC:13854", "OMIM:611643", "UMLS:C1422237", "UniProtKB:A0A0S2Z658", "UMLS:C2001667", "MESH:C524688", "UniProtKB:B7Z7H3", "UniProtKB:Q969J2", "PR:Q969J2", "ENSEMBL:ENSP00000366509", "ENSEMBL:ENSP00000366509.2"], "information_content": 100.0}
{"id": "UniProtKB:O94985-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calsyntenin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94985-1", "PR:O94985-1", "ENSEMBL:ENSP00000366513", "ENSEMBL:ENSP00000366513.4"], "information_content": 100.0}
{"id": "NCBIGene:221078", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NSUN6", "equivalent_identifiers": ["NCBIGene:221078", "ENSEMBL:ENSG00000241058", "HGNC:23529", "OMIM:617199", "UMLS:C1538493", "UniProtKB:Q8TEA1", "PR:Q8TEA1", "ENSEMBL:ENSP00000366519", "ENSEMBL:ENSP00000366519.4", "UMLS:C4079012", "MESH:C000602638"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0H5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 39 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0H5-2", "PR:Q9C0H5-2", "ENSEMBL:ENSP00000366522", "ENSEMBL:ENSP00000366522.2"], "information_content": 100.0}
{"id": "NCBIGene:2512", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FTL", "equivalent_identifiers": ["NCBIGene:2512", "ENSEMBL:ENSG00000087086", "HGNC:3999", "OMIM:134790", "UMLS:C1414852", "UniProtKB:A0A384MDR3", "UMLS:C1674025", "MESH:C507433", "UniProtKB:P02792", "PR:P02792", "ENSEMBL:ENSP00000366525", "ENSEMBL:ENSP00000366525.2"], "information_content": 87.2}
{"id": "NCBIGene:8928", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXH1", "equivalent_identifiers": ["NCBIGene:8928", "ENSEMBL:ENSG00000160973", "HGNC:3814", "OMIM:603621", "UMLS:C1414681", "UniProtKB:O75593", "PR:O75593", "ENSEMBL:ENSP00000366534", "ENSEMBL:ENSP00000366534.4", "UMLS:C1505226", "MESH:C510350"], "information_content": 100.0}
{"id": "NCBIGene:7718", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF165", "equivalent_identifiers": ["NCBIGene:7718", "ENSEMBL:ENSG00000197279", "HGNC:12953", "OMIM:600834", "UMLS:C1421654", "UniProtKB:P49910", "PR:P49910", "ENSEMBL:ENSP00000366542", "ENSEMBL:ENSP00000366542.1", "ENSEMBL:ENSP00000507525", "ENSEMBL:ENSP00000507525.1", "UMLS:C1430310", "MESH:C096886", "UniProtKB:Q53Z40"], "information_content": 92.8}
{"id": "UniProtKB:O00329-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00329-1", "PR:O00329-1", "ENSEMBL:ENSP00000366563", "ENSEMBL:ENSP00000366563.4", "ENSEMBL:ENSP00000513889", "ENSEMBL:ENSP00000513889.1", "ENSEMBL:ENSP00000513890", "ENSEMBL:ENSP00000513890.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UK41-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 28 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UK41-2", "PR:Q9UK41-2", "ENSEMBL:ENSP00000366565", "ENSEMBL:ENSP00000366565.2", "ENSEMBL:ENSP00000434556", "ENSEMBL:ENSP00000434556.1", "ENSEMBL:ENSP00000494521", "ENSEMBL:ENSP00000494521.1", "ENSEMBL:ENSP00000495408", "ENSEMBL:ENSP00000495408.1"], "information_content": 100.0}
{"id": "UniProtKB:Q504Y0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc transporter ZIP12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q504Y0-1", "PR:Q504Y0-1", "ENSEMBL:ENSP00000366586", "ENSEMBL:ENSP00000366586.2"], "information_content": 100.0}
{"id": "UniProtKB:Q15637-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "splicing factor 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q15637-5", "PR:Q15637-5", "ENSEMBL:ENSP00000366604", "ENSEMBL:ENSP00000366604.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRT8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc-regulated GTPase metalloprotein activator 1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRT8-1", "PR:Q9BRT8-1", "ENSEMBL:ENSP00000348915", "ENSEMBL:ENSP00000348915.4", "ENSEMBL:ENSP00000366617", "ENSEMBL:ENSP00000366617.5"], "information_content": 100.0}
{"id": "NCBIGene:8340", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BC13", "equivalent_identifiers": ["NCBIGene:8340", "ENSEMBL:ENSG00000185130", "HGNC:4748", "OMIM:602800", "UMLS:C5202823", "UniProtKB:Q99880", "PR:Q99880", "ENSEMBL:ENSP00000366618", "ENSEMBL:ENSP00000366618.2", "UMLS:C5202738"], "information_content": 82.6}
{"id": "NCBIGene:80045", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR157", "equivalent_identifiers": ["NCBIGene:80045", "ENSEMBL:ENSG00000180758", "HGNC:23687", "OMIM:620860", "UMLS:C1428192", "UniProtKB:Q5UAW9", "PR:Q5UAW9", "ENSEMBL:ENSP00000366628", "ENSEMBL:ENSP00000366628.4"], "information_content": 100.0}
{"id": "NCBIGene:653427", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXD4L5", "equivalent_identifiers": ["NCBIGene:653427", "ENSEMBL:ENSG00000204779", "HGNC:18522", "UMLS:C2239458", "UniProtKB:Q5VV16", "PR:Q5VV16", "ENSEMBL:ENSP00000366637", "ENSEMBL:ENSP00000366637.1"], "information_content": 100.0}
{"id": "UniProtKB:P22732-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 2, facilitated glucose transporter member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P22732-1", "PR:P22732-1", "ENSEMBL:ENSP00000366641", "ENSEMBL:ENSP00000366641.4"], "information_content": 100.0}
{"id": "NCBIGene:140856", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCP2D1", "equivalent_identifiers": ["NCBIGene:140856", "ENSEMBL:ENSG00000132631", "HGNC:16211", "UMLS:C1424088", "UniProtKB:Q9UJQ7", "PR:Q9UJQ7", "ENSEMBL:ENSP00000366645", "ENSEMBL:ENSP00000366645.2"], "information_content": 95.4}
{"id": "UniProtKB:P23280-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carbonic anhydrase 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P23280-2", "PR:P23280-2", "ENSEMBL:ENSP00000366654", "ENSEMBL:ENSP00000366654.3"], "information_content": 100.0}
{"id": "MONDO:0005791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "herpangina", "equivalent_identifiers": ["MONDO:0005791", "DOID:10883", "EFO:0007306", "UMLS:C0019338", "MESH:D006557", "MEDDRA:10019936", "MEDDRA:10067780", "SNOMEDCT:186659004", "SNOMEDCT:274102007", "medgen:42435", "ICD10:B08.5", "ICD9:074.0"], "information_content": 100.0}
{"id": "NCBIGene:85235", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2AC12", "equivalent_identifiers": ["NCBIGene:85235", "ENSEMBL:ENSG00000274997", "HGNC:13671", "OMIM:615013", "UMLS:C5202980", "UniProtKB:A3KPC7", "UniProtKB:Q96KK5", "PR:Q96KK5", "ENSEMBL:ENSP00000366679", "ENSEMBL:ENSP00000366679.2", "UMLS:C5202981"], "information_content": 79.6}
{"id": "DOID:0060508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orange allergy", "equivalent_identifiers": ["DOID:0060508"]}
{"id": "NCBIGene:730249", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACOD1", "equivalent_identifiers": ["NCBIGene:730249", "ENSEMBL:ENSG00000102794", "HGNC:33904", "OMIM:615275", "UMLS:C2239547", "UniProtKB:A6NK06", "PR:A6NK06", "ENSEMBL:ENSP00000366682", "ENSEMBL:ENSP00000366682.1", "UMLS:C3253749", "MESH:C561544"], "information_content": 100.0}
{"id": "MONDO:0009189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple epiphyseal dysplasia type 4", "equivalent_identifiers": ["MONDO:0009189", "DOID:0070300", "OMIM:226900", "orphanet:93307", "UMLS:C1847593", "MESH:C535504", "SNOMEDCT:715672007", "medgen:376164", "icd11.foundation:1927114777"], "information_content": 100.0}
{"id": "UniProtKB:Q76KD6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "speriolin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q76KD6-1", "PR:Q76KD6-1", "ENSEMBL:ENSP00000366690", "ENSEMBL:ENSP00000366690.3"], "information_content": 100.0}
{"id": "NCBIGene:115207", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCTD12", "equivalent_identifiers": ["NCBIGene:115207", "ENSEMBL:ENSG00000178695", "HGNC:14678", "OMIM:610521", "UMLS:C1422834", "UniProtKB:A0A140VJM4", "UMLS:C1528894", "MESH:C493175", "UniProtKB:Q96CX2", "PR:Q96CX2", "ENSEMBL:ENSP00000366694", "ENSEMBL:ENSP00000366694.2"], "information_content": 100.0}
{"id": "NCBIGene:54206", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERRFI1", "equivalent_identifiers": ["NCBIGene:54206", "ENSEMBL:ENSG00000116285", "HGNC:18185", "OMIM:608069", "UMLS:C1825064", "UniProtKB:B3KTV8", "UMLS:C1435578", "MESH:C484017", "UniProtKB:I6S2Y9", "UniProtKB:Q9UJM3", "PR:Q9UJM3", "ENSEMBL:ENSP00000366702", "ENSEMBL:ENSP00000366702.5", "UMLS:C3539766"], "information_content": 95.4}
{"id": "UniProtKB:Q92783-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal transducing adapter molecule 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92783-1", "PR:Q92783-1", "ENSEMBL:ENSP00000366746", "ENSEMBL:ENSP00000366746.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y679-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lipid droplet-regulating VLDL assembly factor AUP1 isoform Short (human)", "equivalent_identifiers": ["UniProtKB:Q9Y679-2", "PR:Q9Y679-2", "ENSEMBL:ENSP00000366748", "ENSEMBL:ENSP00000366748.3"], "information_content": 100.0}
{"id": "NCBIGene:4008", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LMO7", "equivalent_identifiers": ["NCBIGene:4008", "ENSEMBL:ENSG00000136153", "HGNC:6646", "OMIM:604362", "UMLS:C1416885", "UniProtKB:A0A0A0MTE2", "ENSEMBL:ENSP00000433352", "ENSEMBL:ENSP00000433352.1", "UMLS:C1431613", "MESH:C116184", "UniProtKB:E9PMT2", "ENSEMBL:ENSP00000317802", "ENSEMBL:ENSP00000317802.8", "UniProtKB:F8J2B5", "UniProtKB:F8WD26", "ENSEMBL:ENSP00000366757", "ENSEMBL:ENSP00000366757.4", "UniProtKB:Q8WWI1", "PR:Q8WWI1"]}
{"id": "UniProtKB:J3KPF0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "J3KPF0_HUMAN HECT domain E3 ubiquitin protein ligase 4 (trembl)", "equivalent_identifiers": ["UniProtKB:J3KPF0", "ENSEMBL:ENSP00000366783", "ENSEMBL:ENSP00000366783.7"]}
{"id": "UniProtKB:Q96S37-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 22 member 12 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96S37-1", "PR:Q96S37-1", "ENSEMBL:ENSP00000366797", "ENSEMBL:ENSP00000366797.1"], "information_content": 100.0}
{"id": "NCBIGene:10473", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMGN4", "equivalent_identifiers": ["NCBIGene:10473", "ENSEMBL:ENSG00000182952", "HGNC:4989", "UMLS:C1333916", "UniProtKB:O00479", "PR:O00479", "ENSEMBL:ENSP00000366798", "ENSEMBL:ENSP00000366798.1", "ENSEMBL:ENSP00000517955", "ENSEMBL:ENSP00000517955.1", "UMLS:C1321912", "MESH:C028567"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVH1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily C member 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVH1-1", "PR:Q9NVH1-1", "ENSEMBL:ENSP00000366800", "ENSEMBL:ENSP00000366800.5"], "information_content": 100.0}
{"id": "NCBIGene:7347", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UCHL3", "equivalent_identifiers": ["NCBIGene:7347", "ENSEMBL:ENSG00000118939", "HGNC:12515", "OMIM:603090", "UMLS:C1421311", "UniProtKB:A0A140VJZ4", "UMLS:C1565998", "MESH:C509806", "UniProtKB:P15374", "PR:P15374", "ENSEMBL:ENSP00000366819", "ENSEMBL:ENSP00000366819.3"], "information_content": 95.4}
{"id": "NCBIGene:338596", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ST8SIA6", "equivalent_identifiers": ["NCBIGene:338596", "ENSEMBL:ENSG00000148488", "HGNC:23317", "OMIM:610139", "UMLS:C1539878", "UniProtKB:P61647", "PR:P61647", "ENSEMBL:ENSP00000366827", "ENSEMBL:ENSP00000366827.4", "UMLS:C4277150", "MESH:C000607061"], "information_content": 92.8}
{"id": "NCBIGene:10621", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR3F", "equivalent_identifiers": ["NCBIGene:10621", "ENSEMBL:ENSG00000132664", "HGNC:15763", "OMIM:617455", "UMLS:C1423712", "UniProtKB:A0A8V8TL53", "ENSEMBL:ENSP00000513376", "ENSEMBL:ENSP00000513376.1", "ENSEMBL:ENSP00000513383", "ENSEMBL:ENSP00000513383.1", "UniProtKB:A0A8V8TMS0", "ENSEMBL:ENSP00000513372", "ENSEMBL:ENSP00000513372.1", "UniProtKB:Q05DB8", "ENSEMBL:ENSP00000513375", "ENSEMBL:ENSP00000513375.1", "UniProtKB:Q9H1D9", "PR:Q9H1D9", "ENSEMBL:ENSP00000366828", "ENSEMBL:ENSP00000366828.4"], "information_content": 92.8}
{"id": "UniProtKB:O60343-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60343-1", "PR:O60343-1", "ENSEMBL:ENSP00000366863", "ENSEMBL:ENSP00000366863.3"], "information_content": 100.0}
{"id": "NCBIGene:148479", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHF13", "equivalent_identifiers": ["NCBIGene:148479", "ENSEMBL:ENSG00000116273", "HGNC:22983", "OMIM:620054", "UMLS:C1427835", "UniProtKB:A0A158RFV6", "UMLS:C1619934", "MESH:C503048", "UniProtKB:Q86YI8", "PR:Q86YI8", "ENSEMBL:ENSP00000366876", "ENSEMBL:ENSP00000366876.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y4X4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "krueppel-like factor 12 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4X4-1", "PR:Q9Y4X4-1", "ENSEMBL:ENSP00000366897", "ENSEMBL:ENSP00000366897.2", "ENSEMBL:ENSP00000515592", "ENSEMBL:ENSP00000515592.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2N7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hypoxia-inducible factor 3-alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2N7-1", "PR:Q9Y2N7-1", "ENSEMBL:ENSP00000366898", "ENSEMBL:ENSP00000366898.3"], "information_content": 100.0}
{"id": "NCBIGene:29902", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM216A", "equivalent_identifiers": ["NCBIGene:29902", "ENSEMBL:ENSG00000204856", "HGNC:30180", "UMLS:C3470297", "UniProtKB:Q8WUB2", "PR:Q8WUB2", "ENSEMBL:ENSP00000366901", "ENSEMBL:ENSP00000366901.5"], "information_content": 90.9}
{"id": "MONDO:0007988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant primary microcephaly", "equivalent_identifiers": ["MONDO:0007988", "DOID:0061100", "DOID:14725", "OMIM:156580", "orphanet:2514", "UMLS:C0220693", "MESH:C537323", "medgen:66319", "icd11.foundation:774437947"], "information_content": 90.9}
{"id": "UniProtKB:Q13887-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "krueppel-like factor 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13887-1", "PR:Q13887-1", "ENSEMBL:ENSP00000366915", "ENSEMBL:ENSP00000366915.4"], "information_content": 100.0}
{"id": "NCBIGene:347252", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGFBPL1", "equivalent_identifiers": ["NCBIGene:347252", "ENSEMBL:ENSG00000137142", "HGNC:20081", "OMIM:610413", "UMLS:C1537401", "UniProtKB:Q8WX77", "PR:Q8WX77", "ENSEMBL:ENSP00000366923", "ENSEMBL:ENSP00000366923.1", "UMLS:C1570375", "MESH:C501532"], "information_content": 100.0}
{"id": "MONDO:0013978", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 70", "equivalent_identifiers": ["MONDO:0013978", "DOID:0110521", "OMIM:614934", "UMLS:C1824925", "medgen:760477"], "information_content": 100.0}
{"id": "NCBIGene:219", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALDH1B1", "equivalent_identifiers": ["NCBIGene:219", "ENSEMBL:ENSG00000137124", "HGNC:407", "OMIM:100670", "UMLS:C1412338", "UniProtKB:A0A384MTJ7", "UMLS:C2001839", "MESH:C524846", "UniProtKB:P30837", "PR:P30837", "ENSEMBL:ENSP00000366927", "ENSEMBL:ENSP00000366927.3", "UMLS:C0001985", "UMLS:C3273285", "MESH:D000444"], "information_content": 95.4}
{"id": "NCBIGene:79707", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOL9", "equivalent_identifiers": ["NCBIGene:79707", "ENSEMBL:ENSG00000162408", "HGNC:26265", "OMIM:620304", "UMLS:C1826450", "UniProtKB:Q5SY16", "PR:Q5SY16", "ENSEMBL:ENSP00000366934", "ENSEMBL:ENSP00000366934.5", "UMLS:C2975410", "MESH:C554920"], "information_content": 88.2}
{"id": "UniProtKB:Q15464-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH2 domain-containing adapter protein B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15464-1", "PR:Q15464-1", "ENSEMBL:ENSP00000366936", "ENSEMBL:ENSP00000366936.3"], "information_content": 100.0}
{"id": "UniProtKB:P78410-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "butyrophilin subfamily 3 member A2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78410-1", "PR:P78410-1", "ENSEMBL:ENSP00000348751", "ENSEMBL:ENSP00000348751.2", "ENSEMBL:ENSP00000366937", "ENSEMBL:ENSP00000366937.2", "ENSEMBL:ENSP00000380152", "ENSEMBL:ENSP00000380152.1", "ENSEMBL:ENSP00000432138", "ENSEMBL:ENSP00000432138.1"], "information_content": 100.0}
{"id": "NCBIGene:92667", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MGME1", "equivalent_identifiers": ["NCBIGene:92667", "ENSEMBL:ENSG00000125871", "HGNC:16205", "OMIM:615076", "UMLS:C1424082", "UniProtKB:Q5QPE7", "ENSEMBL:ENSP00000366933", "ENSEMBL:ENSP00000366933.4", "UMLS:C3657782", "MESH:C579164", "UniProtKB:Q5QPE8", "ENSEMBL:ENSP00000366938", "ENSEMBL:ENSP00000366938.1", "UniProtKB:Q9BQP7", "PR:Q9BQP7", "ENSEMBL:ENSP00000366939", "ENSEMBL:ENSP00000366939.5"], "information_content": 100.0}
{"id": "UniProtKB:Q495N2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proton-coupled amino acid transporter 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q495N2-3", "PR:Q495N2-3", "ENSEMBL:ENSP00000366942", "ENSEMBL:ENSP00000366942.3"], "information_content": 100.0}
{"id": "NCBIGene:92014", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A51", "equivalent_identifiers": ["NCBIGene:92014", "ENSEMBL:ENSG00000122696", "HGNC:23323", "OMIM:619153", "UMLS:C3469817", "UniProtKB:Q9H1U9", "PR:Q9H1U9", "ENSEMBL:ENSP00000242275", "ENSEMBL:ENSP00000242275.6", "ENSEMBL:ENSP00000366945", "ENSEMBL:ENSP00000366945.2", "UMLS:C5564902", "MESH:C000720934"], "information_content": 100.0}
{"id": "NCBIGene:83899", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP9-2", "equivalent_identifiers": ["NCBIGene:83899", "ENSEMBL:ENSG00000239886", "HGNC:16926", "UMLS:C1424641", "UniProtKB:A0A140TA58", "ENSEMBL:ENSP00000458595", "ENSEMBL:ENSP00000458595.1", "UniProtKB:Q9BYQ4", "PR:Q9BYQ4", "ENSEMBL:ENSP00000366950", "ENSEMBL:ENSP00000366950.3", "ENSEMBL:ENSP00000458594", "ENSEMBL:ENSP00000458594.1"], "information_content": 100.0}
{"id": "NCBIGene:85291", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP4-2", "equivalent_identifiers": ["NCBIGene:85291", "ENSEMBL:ENSG00000244537", "HGNC:18900", "UMLS:C1425868", "UniProtKB:A0AAG2UW37", "ENSEMBL:ENSP00000517795", "ENSEMBL:ENSP00000517795.1", "UniProtKB:Q9BYR5", "PR:Q9BYR5", "ENSEMBL:ENSP00000366955", "ENSEMBL:ENSP00000366955.2"], "information_content": 100.0}
{"id": "MONDO:0006210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrolamellar hepatocellular carcinoma", "equivalent_identifiers": ["MONDO:0006210", "DOID:5015", "orphanet:401920", "EFO:1000256", "UMLS:C0334287", "MESH:C537258", "NCIT:C4131", "SNOMEDCT:15619004", "SNOMEDCT:253018005", "medgen:83122"], "information_content": 85.5}
{"id": "NCBIGene:2843", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR20", "equivalent_identifiers": ["NCBIGene:2843", "ENSEMBL:ENSG00000204882", "HGNC:4475", "OMIM:601908", "UMLS:C1415213", "UniProtKB:Q59GP3", "UniProtKB:Q99678", "PR:Q99678", "ENSEMBL:ENSP00000366970", "ENSEMBL:ENSP00000366970.3", "ENSEMBL:ENSP00000479665", "ENSEMBL:ENSP00000479665.1", "ENSEMBL:ENSP00000516924", "ENSEMBL:ENSP00000516924.1", "UMLS:C2354388", "MESH:C529474"], "information_content": 100.0}
{"id": "NCBIGene:728255", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP1-4", "equivalent_identifiers": ["NCBIGene:728255", "ENSEMBL:ENSG00000204887", "HGNC:18904", "OMIM:608821", "UMLS:C1425872", "UniProtKB:P0C5Y4", "PR:P0C5Y4", "ENSEMBL:ENSP00000366976", "ENSEMBL:ENSP00000366976.4", "ENSEMBL:ENSP00000458243", "ENSEMBL:ENSP00000458243.2", "UMLS:C1453257", "MESH:C489805"], "information_content": 100.0}
{"id": "NCBIGene:125115", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT40", "equivalent_identifiers": ["NCBIGene:125115", "ENSEMBL:ENSG00000204889", "HGNC:26707", "OMIM:616679", "UMLS:C1825756", "UniProtKB:G3V1C2", "ENSEMBL:ENSP00000434458", "ENSEMBL:ENSP00000434458.1", "ENSEMBL:ENSP00000458481", "ENSEMBL:ENSP00000458481.1", "UniProtKB:Q6A162", "PR:Q6A162", "ENSEMBL:ENSP00000366984", "ENSEMBL:ENSP00000366984.4", "ENSEMBL:ENSP00000381500", "ENSEMBL:ENSP00000381500.2", "ENSEMBL:ENSP00000459621", "ENSEMBL:ENSP00000459621.2", "ENSEMBL:ENSP00000479080", "ENSEMBL:ENSP00000479080.1", "ENSEMBL:ENSP00000506768", "ENSEMBL:ENSP00000506768.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2L1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exosome complex exonuclease RRP44 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2L1-1", "PR:Q9Y2L1-1", "ENSEMBL:ENSP00000366997", "ENSEMBL:ENSP00000366997.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5X3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5X3-1", "PR:Q9Y5X3-1", "ENSEMBL:ENSP00000366988", "ENSEMBL:ENSP00000366988.3", "ENSEMBL:ENSP00000366998", "ENSEMBL:ENSP00000366998.3"], "information_content": 100.0}
{"id": "UniProtKB:P42658-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-type potassium channel modulatory protein DPP6 isoform DPPX-L (human)", "equivalent_identifiers": ["UniProtKB:P42658-1", "PR:P42658-1", "ENSEMBL:ENSP00000367001", "ENSEMBL:ENSP00000367001.3"], "information_content": 100.0}
{"id": "UniProtKB:Q93038-11", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 25 isoform h11 (human)", "equivalent_identifiers": ["UniProtKB:Q93038-11", "PR:Q93038-11", "ENSEMBL:ENSP00000367013", "ENSEMBL:ENSP00000367013.3"], "information_content": 100.0}
{"id": "NCBIGene:8334", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2AC6", "equivalent_identifiers": ["NCBIGene:8334", "ENSEMBL:ENSG00000180573", "HGNC:4733", "OMIM:602794", "UMLS:C5202975", "UniProtKB:Q93077", "PR:Q93077", "ENSEMBL:ENSP00000321389", "ENSEMBL:ENSP00000321389.5", "ENSEMBL:ENSP00000367022", "ENSEMBL:ENSP00000367022.2", "ENSEMBL:ENSP00000473534", "ENSEMBL:ENSP00000473534.1", "UMLS:C5202974"], "information_content": 78.8}
{"id": "UniProtKB:Q86UY6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-alpha-acetyltransferase 40 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UY6-1", "PR:Q86UY6-1", "ENSEMBL:ENSP00000367024", "ENSEMBL:ENSP00000367024.4"], "information_content": 100.0}
{"id": "UniProtKB:Q13428-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "treacle protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13428-1", "PR:Q13428-1", "ENSEMBL:ENSP00000367028", "ENSEMBL:ENSP00000367028.4", "ENSEMBL:ENSP00000421655", "ENSEMBL:ENSP00000421655.2"], "information_content": 100.0}
{"id": "MONDO:0014651", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofacial dysostosis Cincinnati type", "equivalent_identifiers": ["MONDO:0014651", "DOID:0060353", "OMIM:616462", "UMLS:C4225317", "medgen:903483"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZS1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed RNA polymerase I subunit RPA49 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZS1-2", "PR:Q9GZS1-2", "ENSEMBL:ENSP00000367029", "ENSEMBL:ENSP00000367029.4"], "information_content": 100.0}
{"id": "UniProtKB:O14717-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA (cytosine(38)-C(5))-methyltransferase isoform A (human)", "equivalent_identifiers": ["UniProtKB:O14717-1", "PR:O14717-1", "ENSEMBL:ENSP00000367030", "ENSEMBL:ENSP00000367030.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2E9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosome-binding protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2E9-3", "PR:Q9P2E9-3", "ENSEMBL:ENSP00000354045", "ENSEMBL:ENSP00000354045.4", "ENSEMBL:ENSP00000367038", "ENSEMBL:ENSP00000367038.2"], "information_content": 100.0}
{"id": "NCBIGene:440145", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MZT1", "equivalent_identifiers": ["NCBIGene:440145", "ENSEMBL:ENSG00000204899", "HGNC:33830", "OMIM:613448", "UMLS:C2681284", "UniProtKB:Q08AG7", "PR:Q08AG7", "ENSEMBL:ENSP00000367049", "ENSEMBL:ENSP00000367049.3", "UMLS:C3852037", "MESH:C000589193"], "information_content": 88.2}
{"id": "UniProtKB:O95197-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reticulon-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95197-1", "PR:O95197-1", "ENSEMBL:ENSP00000367050", "ENSEMBL:ENSP00000367050.5"], "information_content": 100.0}
{"id": "NCBIGene:8029", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CUBN", "equivalent_identifiers": ["NCBIGene:8029", "ENSEMBL:ENSG00000107611", "HGNC:2548", "OMIM:602997", "UMLS:C1413823", "UniProtKB:O60494", "PR:O60494", "ENSEMBL:ENSP00000367064", "ENSEMBL:ENSP00000367064.4", "UMLS:C5848921"], "information_content": 86.3}
{"id": "UniProtKB:Q9Y543-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor HES-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y543-1", "PR:Q9Y543-1", "ENSEMBL:ENSP00000367065", "ENSEMBL:ENSP00000367065.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9P243-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein ZFAT isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P243-1", "PR:Q9P243-1", "ENSEMBL:ENSP00000367069", "ENSEMBL:ENSP00000367069.3"], "information_content": 100.0}
{"id": "UniProtKB:O00154-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic acyl coenzyme A thioester hydrolase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00154-1", "PR:O00154-1", "ENSEMBL:ENSP00000367086", "ENSEMBL:ENSP00000367086.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9HC56-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin-9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HC56-1", "PR:Q9HC56-1", "ENSEMBL:ENSP00000367096", "ENSEMBL:ENSP00000367096.2"], "information_content": 100.0}
{"id": "UniProtKB:Q4U2R8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 22 member 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4U2R8-1", "PR:Q4U2R8-1", "ENSEMBL:ENSP00000367102", "ENSEMBL:ENSP00000367102.3"], "information_content": 100.0}
{"id": "UniProtKB:Q12934-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "filensin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12934-1", "PR:Q12934-1", "ENSEMBL:ENSP00000367104", "ENSEMBL:ENSP00000367104.3"], "information_content": 100.0}
{"id": "UniProtKB:P08195-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amino acid transporter heavy chain SLC3A2 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P08195-5", "PR:P08195-5", "ENSEMBL:ENSP00000367123", "ENSEMBL:ENSP00000367123.2"], "information_content": 100.0}
{"id": "NCBIGene:390992", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HES3", "equivalent_identifiers": ["NCBIGene:390992", "ENSEMBL:ENSG00000173673", "HGNC:26226", "OMIM:609971", "UMLS:C1825461", "UniProtKB:Q5TGS1", "PR:Q5TGS1", "ENSEMBL:ENSP00000367130", "ENSEMBL:ENSP00000367130.3", "UMLS:C1531378", "UMLS:C3537290", "MESH:C495457"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2C5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable small intestine urate exporter isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2C5-1", "PR:Q9Y2C5-1", "ENSEMBL:ENSP00000367137", "ENSEMBL:ENSP00000367137.4"], "information_content": 100.0}
{"id": "NCBIGene:643394", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPINK9", "equivalent_identifiers": ["NCBIGene:643394", "ENSEMBL:ENSG00000204909", "HGNC:32951", "OMIM:613511", "UMLS:C1823112", "UniProtKB:D6RJC5", "ENSEMBL:ENSP00000427240", "ENSEMBL:ENSP00000427240.2", "UMLS:C2717055", "MESH:C542011", "UniProtKB:Q5DT21", "PR:Q5DT21", "ENSEMBL:ENSP00000367139", "ENSEMBL:ENSP00000367139.1"], "information_content": 100.0}
{"id": "UniProtKB:O14917-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin-17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14917-1", "PR:O14917-1", "ENSEMBL:ENSP00000367151", "ENSEMBL:ENSP00000367151.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15404-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras suppressor protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15404-1", "PR:Q15404-1", "ENSEMBL:ENSP00000339521", "ENSEMBL:ENSP00000339521.5", "ENSEMBL:ENSP00000367154", "ENSEMBL:ENSP00000367154.3"], "information_content": 100.0}
{"id": "NCBIGene:100505591", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC3C", "equivalent_identifiers": ["NCBIGene:100505591", "ENSEMBL:ENSG00000204913", "HGNC:40034", "UMLS:C3147755", "UniProtKB:A6NJW4", "PR:A6NJW4", "ENSEMBL:ENSP00000367157", "ENSEMBL:ENSP00000367157.4"], "information_content": 100.0}
{"id": "UniProtKB:P86481", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PR20B_HUMAN Proline-rich protein 20B (sprot)", "equivalent_identifiers": ["UniProtKB:P86481", "PR:P86481", "ENSEMBL:ENSP00000367163", "ENSEMBL:ENSP00000367163.1"], "information_content": 100.0}
{"id": "UniProtKB:P86496", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PR20A_HUMAN Proline-rich protein 20A (sprot)", "equivalent_identifiers": ["UniProtKB:P86496", "PR:P86496", "ENSEMBL:ENSP00000367164", "ENSEMBL:ENSP00000367164.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZRF8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RING finger protein 207 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZRF8-1", "PR:Q6ZRF8-1", "ENSEMBL:ENSP00000367173", "ENSEMBL:ENSP00000367173.4"], "information_content": 100.0}
{"id": "UniProtKB:O95206-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin-8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95206-1", "PR:O95206-1", "ENSEMBL:ENSP00000367177", "ENSEMBL:ENSP00000367177.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWN5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ly6/PLAUR domain-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWN5-1", "PR:Q6UWN5-1", "ENSEMBL:ENSP00000367185", "ENSEMBL:ENSP00000367185.2"], "information_content": 100.0}
{"id": "NCBIGene:554251", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXO48", "equivalent_identifiers": ["NCBIGene:554251", "ENSEMBL:ENSG00000204923", "HGNC:33857", "OMIM:620549", "UMLS:C2681527", "UniProtKB:Q5FWF7", "PR:Q5FWF7", "ENSEMBL:ENSP00000367193", "ENSEMBL:ENSP00000367193.2", "UMLS:C5544002", "MESH:C000716028"], "information_content": 100.0}
{"id": "NCBIGene:152007", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLIPR2", "equivalent_identifiers": ["NCBIGene:152007", "ENSEMBL:ENSG00000122694", "HGNC:18007", "OMIM:607141", "UMLS:C1425234", "UniProtKB:A0A087WUM5", "ENSEMBL:ENSP00000478768", "ENSEMBL:ENSP00000478768.1", "UMLS:C1137137", "MESH:C458481", "UniProtKB:A0A088AWP7", "ENSEMBL:ENSP00000379857", "ENSEMBL:ENSP00000379857.4", "UniProtKB:Q5VZR0", "ENSEMBL:ENSP00000367195", "ENSEMBL:ENSP00000367195.1", "UniProtKB:Q9H4G4", "PR:Q9H4G4", "ENSEMBL:ENSP00000367196", "ENSEMBL:ENSP00000367196.4", "UMLS:C1512239"], "information_content": 95.4}
{"id": "NCBIGene:10590", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCGN", "equivalent_identifiers": ["NCBIGene:10590", "ENSEMBL:ENSG00000079689", "HGNC:16941", "OMIM:609202", "UMLS:C1424652", "UniProtKB:O76038", "PR:O76038", "ENSEMBL:ENSP00000367197", "ENSEMBL:ENSP00000367197.2", "UMLS:C3711644", "MESH:C576556"], "information_content": 95.4}
{"id": "UniProtKB:O75829-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukocyte cell-derived chemotaxin 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75829-1", "PR:O75829-1", "ENSEMBL:ENSP00000367198", "ENSEMBL:ENSP00000367198.3"], "information_content": 100.0}
{"id": "NCBIGene:8434", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RECK", "equivalent_identifiers": ["NCBIGene:8434", "ENSEMBL:ENSG00000122707", "HGNC:11345", "OMIM:605227", "UMLS:C1420441", "UniProtKB:A8K9D8", "UMLS:C1447715", "MESH:C115460", "UniProtKB:O95980", "PR:O95980", "ENSEMBL:ENSP00000367202", "ENSEMBL:ENSP00000367202.3", "UniProtKB:Q6P9E2"], "information_content": 90.9}
{"id": "NCBIGene:7403", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KDM6A", "equivalent_identifiers": ["NCBIGene:7403", "ENSEMBL:ENSG00000147050", "HGNC:12637", "OMIM:300128", "UMLS:C1421414", "UniProtKB:A0A087X0R0", "ENSEMBL:ENSP00000483595", "ENSEMBL:ENSP00000483595.2", "UniProtKB:A0A6Q8PFK0", "ENSEMBL:ENSP00000501855", "ENSEMBL:ENSP00000501855.1", "UniProtKB:A0A804HJA2", "ENSEMBL:ENSP00000507416", "ENSEMBL:ENSP00000507416.1", "UniProtKB:B4E0L8", "UniProtKB:B7ZKN1", "UniProtKB:B7ZKN5", "UniProtKB:B7ZKN6", "UniProtKB:E1U0S6", "UniProtKB:F5H5V6", "ENSEMBL:ENSP00000443078", "ENSEMBL:ENSP00000443078.3", "UniProtKB:F5H6S1", "ENSEMBL:ENSP00000437405", "ENSEMBL:ENSP00000437405.3", "UniProtKB:F8W8R6", "ENSEMBL:ENSP00000372355", "ENSEMBL:ENSP00000372355.6", "UniProtKB:O15550", "PR:O15550", "ENSEMBL:ENSP00000367203", "ENSEMBL:ENSP00000367203.4", "UMLS:C3272719", "MESH:C523998", "UniProtKB:Q59HG3"], "information_content": 100.0}
{"id": "NCBIGene:643226", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRXCR2", "equivalent_identifiers": ["NCBIGene:643226", "ENSEMBL:ENSG00000204928", "HGNC:33862", "OMIM:615762", "UMLS:C2681556", "UniProtKB:A6NFK2", "PR:A6NFK2", "ENSEMBL:ENSP00000367214", "ENSEMBL:ENSP00000367214.1", "UMLS:C3886139", "MESH:C000593489"], "information_content": 100.0}
{"id": "UniProtKB:P61160-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin-related protein 2 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P61160-2", "PR:P61160-2", "ENSEMBL:ENSP00000367220", "ENSEMBL:ENSP00000367220.4"], "information_content": 100.0}
{"id": "UniProtKB:Q76N32-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 68 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q76N32-1", "PR:Q76N32-1", "ENSEMBL:ENSP00000367229", "ENSEMBL:ENSP00000367229.2"], "information_content": 100.0}
{"id": "UniProtKB:A6NDV4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 8B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NDV4-1", "PR:A6NDV4-1", "ENSEMBL:ENSP00000367227", "ENSEMBL:ENSP00000367227.2", "ENSEMBL:ENSP00000367230", "ENSEMBL:ENSP00000367230.4", "ENSEMBL:ENSP00000497766", "ENSEMBL:ENSP00000497766.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96BW5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetyltaurine hydrolase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BW5-1", "PR:Q96BW5-1", "ENSEMBL:ENSP00000367239", "ENSEMBL:ENSP00000367239.1", "ENSEMBL:ENSP00000439485", "ENSEMBL:ENSP00000439485.1"], "information_content": 100.0}
{"id": "UniProtKB:Q09666-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuroblast differentiation-associated protein AHNAK isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q09666-1", "PR:Q09666-1", "ENSEMBL:ENSP00000367263", "ENSEMBL:ENSP00000367263.4"], "information_content": 100.0}
{"id": "NCBIGene:10970", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CKAP4", "equivalent_identifiers": ["NCBIGene:10970", "ENSEMBL:ENSG00000136026", "HGNC:16991", "OMIM:618595", "UMLS:C1424677", "UniProtKB:Q07065", "PR:Q07065", "ENSEMBL:ENSP00000367265", "ENSEMBL:ENSP00000367265.4", "UMLS:C1429859", "MESH:C081876"], "information_content": 83.6}
{"id": "UniProtKB:Q8WWK9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoskeleton-associated protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWK9-1", "PR:Q8WWK9-1", "ENSEMBL:ENSP00000367276", "ENSEMBL:ENSP00000367276.4"], "information_content": 100.0}
{"id": "NCBIGene:139341", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FUNDC1", "equivalent_identifiers": ["NCBIGene:139341", "ENSEMBL:ENSG00000069509", "HGNC:28746", "OMIM:300871", "UMLS:C1428741", "UniProtKB:Q8IVP5", "PR:Q8IVP5", "ENSEMBL:ENSP00000367284", "ENSEMBL:ENSP00000367284.4", "UMLS:C3491110", "MESH:C571016"], "information_content": 89.4}
{"id": "UniProtKB:Q86VN1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein-sorting-associated protein 36 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VN1-1", "PR:Q86VN1-1", "ENSEMBL:ENSP00000367299", "ENSEMBL:ENSP00000367299.3"], "information_content": 100.0}
{"id": "NCBIGene:155054", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF425", "equivalent_identifiers": ["NCBIGene:155054", "ENSEMBL:ENSG00000204947", "HGNC:20690", "OMIM:619507", "UMLS:C1427078", "UniProtKB:Q6IV72", "PR:Q6IV72", "ENSEMBL:ENSP00000367300", "ENSEMBL:ENSP00000367300.2"], "information_content": 95.4}
{"id": "UniProtKB:P27338-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amine oxidase [flavin-containing] B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P27338-1", "PR:P27338-1", "ENSEMBL:ENSP00000367309", "ENSEMBL:ENSP00000367309.4"], "information_content": 100.0}
{"id": "UniProtKB:Q5TEA6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein sel-1 homolog 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5TEA6-2", "PR:Q5TEA6-2", "ENSEMBL:ENSP00000367312", "ENSEMBL:ENSP00000367312.5", "ENSEMBL:ENSP00000517044", "ENSEMBL:ENSP00000517044.1"], "information_content": 100.0}
{"id": "NCBIGene:8516", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITGA8", "equivalent_identifiers": ["NCBIGene:8516", "ENSEMBL:ENSG00000077943", "HGNC:6144", "OMIM:604063", "UMLS:C1416490", "UniProtKB:B4DN28", "UMLS:C3657784", "MESH:C579157", "UniProtKB:P53708", "PR:P53708", "ENSEMBL:ENSP00000367316", "ENSEMBL:ENSP00000367316.3"], "information_content": 95.4}
{"id": "NCBIGene:494188", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXO47", "equivalent_identifiers": ["NCBIGene:494188", "ENSEMBL:ENSG00000204952", "HGNC:31969", "OMIM:609498", "UMLS:C1836109", "UniProtKB:Q5MNV8", "PR:Q5MNV8", "ENSEMBL:ENSP00000367319", "ENSEMBL:ENSP00000367319.2", "UMLS:C1569169", "MESH:C500586"], "information_content": 100.0}
{"id": "UniProtKB:Q13303-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated potassium channel subunit beta-2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q13303-3", "PR:Q13303-3", "ENSEMBL:ENSP00000367323", "ENSEMBL:ENSP00000367323.3"], "information_content": 100.0}
{"id": "NCBIGene:728568", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UQCC6", "equivalent_identifiers": ["NCBIGene:728568", "ENSEMBL:ENSG00000204954", "HGNC:34450", "OMIM:618812", "UMLS:C2681280", "UniProtKB:Q69YU5", "PR:Q69YU5", "ENSEMBL:ENSP00000367330", "ENSEMBL:ENSP00000367330.4", "ENSEMBL:ENSP00000446981", "ENSEMBL:ENSP00000446981.1", "ENSEMBL:ENSP00000448771", "ENSEMBL:ENSP00000448771.1", "ENSEMBL:ENSP00000449839", "ENSEMBL:ENSP00000449839.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCG7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "non-lysosomal glucosylceramidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCG7-1", "PR:Q9HCG7-1", "ENSEMBL:ENSP00000367343", "ENSEMBL:ENSP00000367343.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5TEU4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arginine-hydroxylase NDUFAF5, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TEU4-1", "PR:Q5TEU4-1", "ENSEMBL:ENSP00000367346", "ENSEMBL:ENSP00000367346.5"], "information_content": 100.0}
{"id": "UniProtKB:Q96LP6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C12orf42 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LP6-1", "PR:Q96LP6-1", "ENSEMBL:ENSP00000367353", "ENSEMBL:ENSP00000367353.2", "ENSEMBL:ENSP00000447908", "ENSEMBL:ENSP00000447908.1"], "information_content": 100.0}
{"id": "NCBIGene:2857", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR34", "equivalent_identifiers": ["NCBIGene:2857", "ENSEMBL:ENSG00000171659", "HGNC:4490", "OMIM:300241", "UMLS:C1415227", "UniProtKB:Q5VT14", "UniProtKB:Q9UPC5", "PR:Q9UPC5", "ENSEMBL:ENSP00000367378", "ENSEMBL:ENSP00000367378.5", "ENSEMBL:ENSP00000367384", "ENSEMBL:ENSP00000367384.4", "ENSEMBL:ENSP00000498130", "ENSEMBL:ENSP00000498130.1"], "information_content": 100.0}
{"id": "NCBIGene:643847", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGA4", "equivalent_identifiers": ["NCBIGene:643847", "ENSEMBL:ENSG00000229183", "HGNC:8886", "OMIM:169720", "UMLS:C1418499", "UniProtKB:B7Z719", "UniProtKB:P0DJD7", "PR:P0DJD7", "ENSEMBL:ENSP00000367391", "ENSEMBL:ENSP00000367391.3"], "information_content": 100.0}
{"id": "UniProtKB:O75161-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nephrocystin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75161-1", "PR:O75161-1", "ENSEMBL:ENSP00000367398", "ENSEMBL:ENSP00000367398.4"], "information_content": 100.0}
{"id": "NCBIGene:6873", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAF2", "equivalent_identifiers": ["NCBIGene:6873", "ENSEMBL:ENSG00000064313", "HGNC:11536", "OMIM:604912", "UMLS:C1336565", "UniProtKB:A0A8I5KSY6", "ENSEMBL:ENSP00000509978", "ENSEMBL:ENSP00000509978.1", "UniProtKB:A0A8I5KV60", "ENSEMBL:ENSP00000509206", "ENSEMBL:ENSP00000509206.1", "UniProtKB:A0A8I5QJR0", "ENSEMBL:ENSP00000510174", "ENSEMBL:ENSP00000510174.1", "UniProtKB:B3KMD8", "UniProtKB:Q6P1X5", "PR:Q6P1X5", "ENSEMBL:ENSP00000367406", "ENSEMBL:ENSP00000367406.2", "UMLS:C0669417", "MESH:C486221"], "information_content": 95.4}
{"id": "NCBIGene:9397", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NMT2", "equivalent_identifiers": ["NCBIGene:9397", "ENSEMBL:ENSG00000152465", "HGNC:7858", "OMIM:603801", "UMLS:C1334886", "UniProtKB:B3KT39", "UniProtKB:O60551", "PR:O60551", "ENSEMBL:ENSP00000367407", "ENSEMBL:ENSP00000367407.3", "UMLS:C1334858", "UniProtKB:Q5VUC6", "ENSEMBL:ENSP00000367392", "ENSEMBL:ENSP00000367392.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5J8X5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-spanning 4-domains subfamily A member 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5J8X5-1", "PR:Q5J8X5-1", "ENSEMBL:ENSP00000367428", "ENSEMBL:ENSP00000367428.2"], "information_content": 100.0}
{"id": "MONDO:0024573", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypertrophic cardiomyopathy", "equivalent_identifiers": ["MONDO:0024573", "DOID:0080326", "OMIM.PS:192600", "UMLS:C0949658", "UMLS:C3532230", "MESH:D024741", "NCIT:C84773", "SNOMEDCT:471885006", "SNOMEDCT:83978005", "medgen:183649"], "information_content": 69.9}
{"id": "NCBIGene:100170765", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERICH4", "equivalent_identifiers": ["NCBIGene:100170765", "ENSEMBL:ENSG00000204978", "HGNC:34497", "UMLS:C2681312", "UniProtKB:A6NGS2", "PR:A6NGS2", "ENSEMBL:ENSP00000367429", "ENSEMBL:ENSP00000367429.2"], "information_content": 100.0}
{"id": "NCBIGene:55966", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AJAP1", "equivalent_identifiers": ["NCBIGene:55966", "ENSEMBL:ENSG00000196581", "HGNC:30801", "OMIM:610972", "UMLS:C1826621", "UniProtKB:Q9UKB5", "PR:Q9UKB5", "ENSEMBL:ENSP00000367432", "ENSEMBL:ENSP00000367432.3", "ENSEMBL:ENSP00000367433", "ENSEMBL:ENSP00000367433.3", "UMLS:C1436783", "MESH:C483313"], "information_content": 100.0}
{"id": "UniProtKB:O95551-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosyl-DNA phosphodiesterase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95551-1", "PR:O95551-1", "ENSEMBL:ENSP00000367440", "ENSEMBL:ENSP00000367440.4"], "information_content": 100.0}
{"id": "NCBIGene:2131", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXT1", "equivalent_identifiers": ["NCBIGene:2131", "ENSEMBL:ENSG00000182197", "HGNC:3512", "OMIM:608177", "UMLS:C0694878", "UniProtKB:Q16394", "PR:Q16394", "ENSEMBL:ENSP00000367446", "ENSEMBL:ENSP00000367446.3", "UMLS:C1744253", "MESH:C000730742"], "information_content": 89.4}
{"id": "NCBIGene:414149", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACBD7", "equivalent_identifiers": ["NCBIGene:414149", "ENSEMBL:ENSG00000176244", "HGNC:17715", "UMLS:C1538900", "UniProtKB:Q8N6N7", "PR:Q8N6N7", "ENSEMBL:ENSP00000367453", "ENSEMBL:ENSP00000367453.4", "UMLS:C2934008", "MESH:C549452"], "information_content": 95.4}
{"id": "UniProtKB:Q5VV43-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dyslexia-associated protein KIAA0319 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VV43-1", "PR:Q5VV43-1", "ENSEMBL:ENSP00000367459", "ENSEMBL:ENSP00000367459.3"], "information_content": 100.0}
{"id": "UniProtKB:O60308-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 104 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60308-1", "PR:O60308-1", "ENSEMBL:ENSP00000367476", "ENSEMBL:ENSP00000367476.3", "ENSEMBL:ENSP00000501733", "ENSEMBL:ENSP00000501733.1", "ENSEMBL:ENSP00000501829", "ENSEMBL:ENSP00000501829.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWL2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein spire homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWL2-1", "PR:Q8WWL2-1", "ENSEMBL:ENSP00000367494", "ENSEMBL:ENSP00000367494.3"], "information_content": 100.0}
{"id": "NCBIGene:57470", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC47", "equivalent_identifiers": ["NCBIGene:57470", "ENSEMBL:ENSG00000130764", "HGNC:29207", "OMIM:619154", "UMLS:C1825894", "UniProtKB:Q8N1G4", "PR:Q8N1G4", "ENSEMBL:ENSP00000367498", "ENSEMBL:ENSP00000367498.1"], "information_content": 90.9}
{"id": "UniProtKB:Q96SD1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein artemis isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96SD1-1", "PR:Q96SD1-1", "ENSEMBL:ENSP00000367527", "ENSEMBL:ENSP00000367527.2", "ENSEMBL:ENSP00000513090", "ENSEMBL:ENSP00000513090.1"], "information_content": 100.0}
{"id": "NCBIGene:441376", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AARD", "equivalent_identifiers": ["NCBIGene:441376", "ENSEMBL:ENSG00000205002", "HGNC:33842", "OMIM:621042", "UMLS:C2681258", "UniProtKB:B2RU19", "UniProtKB:Q4LEZ3", "PR:Q4LEZ3", "ENSEMBL:ENSP00000367528", "ENSEMBL:ENSP00000367528.3"], "information_content": 100.0}
{"id": "UniProtKB:O15350-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor protein p73 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15350-1", "PR:O15350-1", "ENSEMBL:ENSP00000367545", "ENSEMBL:ENSP00000367545.4", "ENSEMBL:ENSP00000518863", "ENSEMBL:ENSP00000518863.1", "ENSEMBL:ENSP00000518864", "ENSEMBL:ENSP00000518864.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDN9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RCC1 and BTB domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDN9-1", "PR:Q8NDN9-1", "ENSEMBL:ENSP00000258646", "ENSEMBL:ENSP00000258646.3", "ENSEMBL:ENSP00000367552", "ENSEMBL:ENSP00000367552.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5BKX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin maturation protease isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5BKX5-1", "PR:Q5BKX5-1", "ENSEMBL:ENSP00000367564", "ENSEMBL:ENSP00000367564.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UIL8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PHD finger protein 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIL8-1", "PR:Q9UIL8-1", "ENSEMBL:ENSP00000367570", "ENSEMBL:ENSP00000367570.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRK0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor expression-enhancing protein 2 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRK0-2", "PR:Q9BRK0-2", "ENSEMBL:ENSP00000367590", "ENSEMBL:ENSP00000367590.2"], "information_content": 100.0}
{"id": "NCBIGene:768", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CA9", "equivalent_identifiers": ["NCBIGene:768", "ENSEMBL:ENSG00000107159", "HGNC:1383", "OMIM:603179", "UMLS:C1413052", "UniProtKB:A0A0S2Z341", "UniProtKB:A0A0S2Z3D0", "UniProtKB:Q16790", "PR:Q16790", "ENSEMBL:ENSP00000367608", "ENSEMBL:ENSP00000367608.4", "UMLS:C0258855", "MESH:C089226"], "information_content": 87.2}
{"id": "UniProtKB:P07741-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenine phosphoribosyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P07741-1", "PR:P07741-1", "ENSEMBL:ENSP00000367615", "ENSEMBL:ENSP00000367615.3"], "information_content": 100.0}
{"id": "NCBIGene:51182", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPA14", "equivalent_identifiers": ["NCBIGene:51182", "ENSEMBL:ENSG00000187522", "HGNC:29526", "OMIM:610369", "UMLS:C1537387", "UniProtKB:Q0VDF9", "PR:Q0VDF9", "ENSEMBL:ENSP00000367623", "ENSEMBL:ENSP00000367623.3"], "information_content": 95.4}
{"id": "UniProtKB:Q5VV41-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VV41-1", "PR:Q5VV41-1", "ENSEMBL:ENSP00000367629", "ENSEMBL:ENSP00000367629.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4T4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 39 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4T4-1", "PR:Q8N4T4-1", "ENSEMBL:ENSP00000367638", "ENSEMBL:ENSP00000367638.3"], "information_content": 100.0}
{"id": "NCBIGene:63926", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKEF1", "equivalent_identifiers": ["NCBIGene:63926", "ENSEMBL:ENSG00000132623", "HGNC:15803", "UMLS:C1423741", "UniProtKB:Q9NU02", "PR:Q9NU02", "ENSEMBL:ENSP00000367631", "ENSEMBL:ENSP00000367631.3", "ENSEMBL:ENSP00000367644", "ENSEMBL:ENSP00000367644.1"], "information_content": 100.0}
{"id": "MONDO:0012485", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 68", "equivalent_identifiers": ["MONDO:0012485", "DOID:0110519", "OMIM:610419", "UMLS:C1835854", "MESH:C563669", "medgen:324374"], "information_content": 100.0}
{"id": "NCBIGene:390144", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5D16", "equivalent_identifiers": ["NCBIGene:390144", "ENSEMBL:ENSG00000205029", "HGNC:15283", "UMLS:C1423368", "UniProtKB:Q8NGK9", "PR:Q8NGK9", "ENSEMBL:ENSP00000367649", "ENSEMBL:ENSP00000367649.1"], "information_content": 100.0}
{"id": "NCBIGene:26338", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5L2", "equivalent_identifiers": ["NCBIGene:26338", "ENSEMBL:ENSG00000205030", "HGNC:8351", "UMLS:C1418096", "UniProtKB:Q8NGL0", "PR:Q8NGL0", "ENSEMBL:ENSP00000367650", "ENSEMBL:ENSP00000367650.1"], "information_content": 100.0}
{"id": "NCBIGene:93035", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PKHD1L1", "equivalent_identifiers": ["NCBIGene:93035", "ENSEMBL:ENSG00000205038", "HGNC:20313", "OMIM:607843", "UMLS:C1426851", "UniProtKB:Q86WI1", "PR:Q86WI1", "ENSEMBL:ENSP00000367655", "ENSEMBL:ENSP00000367655.5", "UMLS:C1312975", "MESH:C478647"], "information_content": 90.9}
{"id": "NCBIGene:140625", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTRT2", "equivalent_identifiers": ["NCBIGene:140625", "ENSEMBL:ENSG00000169717", "HGNC:24026", "OMIM:608535", "UMLS:C1826405", "UniProtKB:Q8TDY3", "PR:Q8TDY3", "ENSEMBL:ENSP00000367658", "ENSEMBL:ENSP00000367658.2", "UMLS:C1101163", "MESH:C445675", "UniProtKB:Q96LK1"], "information_content": 95.4}
{"id": "UniProtKB:Q495T6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane metallo-endopeptidase-like 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q495T6-1", "PR:Q495T6-1", "ENSEMBL:ENSP00000367668", "ENSEMBL:ENSP00000367668.3", "ENSEMBL:ENSP00000484606", "ENSEMBL:ENSP00000484606.1"], "information_content": 100.0}
{"id": "NCBIGene:57144", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAK5", "equivalent_identifiers": ["NCBIGene:57144", "ENSEMBL:ENSG00000101349", "HGNC:15916", "OMIM:608038", "UMLS:C1423829", "UniProtKB:B0AZM9", "UniProtKB:Q9P286", "PR:Q9P286", "ENSEMBL:ENSP00000322957", "ENSEMBL:ENSP00000322957.5", "ENSEMBL:ENSP00000367679", "ENSEMBL:ENSP00000367679.1", "ENSEMBL:ENSP00000367686", "ENSEMBL:ENSP00000367686.3", "UMLS:C1448225", "MESH:C443802"], "information_content": 95.4}
{"id": "NCBIGene:10161", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LPAR6", "equivalent_identifiers": ["NCBIGene:10161", "ENSEMBL:ENSG00000139679", "HGNC:15520", "OMIM:609239", "UMLS:C1423550", "UniProtKB:B3KVQ5", "UMLS:C2744176", "MESH:C545560", "UniProtKB:P43657", "PR:P43657", "ENSEMBL:ENSP00000344353", "ENSEMBL:ENSP00000344353.2", "ENSEMBL:ENSP00000367691", "ENSEMBL:ENSP00000367691.3", "ENSEMBL:ENSP00000482660", "ENSEMBL:ENSP00000482660.1"], "information_content": 95.4}
{"id": "UniProtKB:Q6W2J9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BCL-6 corepressor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6W2J9-1", "PR:Q6W2J9-1", "ENSEMBL:ENSP00000367705", "ENSEMBL:ENSP00000367705.4", "ENSEMBL:ENSP00000384485", "ENSEMBL:ENSP00000384485.3", "ENSEMBL:ENSP00000483217", "ENSEMBL:ENSP00000483217.2", "ENSEMBL:ENSP00000499892", "ENSEMBL:ENSP00000499892.2", "ENSEMBL:ENSP00000505507", "ENSEMBL:ENSP00000505507.1", "ENSEMBL:ENSP00000505761", "ENSEMBL:ENSP00000505761.1"], "information_content": 100.0}
{"id": "NCBIGene:388585", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HES5", "equivalent_identifiers": ["NCBIGene:388585", "ENSEMBL:ENSG00000197921", "HGNC:19764", "OMIM:607348", "UMLS:C1426393", "UniProtKB:Q5TA89", "PR:Q5TA89", "ENSEMBL:ENSP00000367714", "ENSEMBL:ENSP00000367714.3", "ENSEMBL:ENSP00000482150", "ENSEMBL:ENSP00000482150.1", "UMLS:C1433121", "MESH:C077478"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHG0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "doublecortin domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHG0-1", "PR:Q9UHG0-1", "ENSEMBL:ENSP00000367715", "ENSEMBL:ENSP00000367715.3"], "information_content": 100.0}
{"id": "NCBIGene:23279", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUP160", "equivalent_identifiers": ["NCBIGene:23279", "ENSEMBL:ENSG00000030066", "HGNC:18017", "OMIM:607614", "UMLS:C1425243", "UniProtKB:A0A8V8NBT1", "ENSEMBL:ENSP00000367721", "ENSEMBL:ENSP00000367721.3", "UniProtKB:Q12769", "PR:Q12769", "UMLS:C1433966", "MESH:C440251"]}
{"id": "NCBIGene:140767", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NRSN1", "equivalent_identifiers": ["NCBIGene:140767", "ENSEMBL:ENSG00000152954", "HGNC:17881", "OMIM:616630", "UMLS:C1826471", "UniProtKB:Q8IZ57", "PR:Q8IZ57", "ENSEMBL:ENSP00000367739", "ENSEMBL:ENSP00000367739.2", "ENSEMBL:ENSP00000367752", "ENSEMBL:ENSP00000367752.4", "UMLS:C1259458", "MESH:C046375"], "information_content": 100.0}
{"id": "NCBIGene:7102", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPAN7", "equivalent_identifiers": ["NCBIGene:7102", "ENSEMBL:ENSG00000156298", "HGNC:11854", "OMIM:300096", "UMLS:C1540087", "UniProtKB:P41732", "PR:P41732", "ENSEMBL:ENSP00000367743", "ENSEMBL:ENSP00000367743.2", "UMLS:C1438771", "MESH:C404405"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z624-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calmodulin-lysine N-methyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z624-1", "PR:Q7Z624-1", "ENSEMBL:ENSP00000367755", "ENSEMBL:ENSP00000367755.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15147-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q15147-4", "PR:Q15147-4", "ENSEMBL:ENSP00000367762", "ENSEMBL:ENSP00000367762.2", "ENSEMBL:ENSP00000508595", "ENSEMBL:ENSP00000508595.1", "ENSEMBL:ENSP00000508600", "ENSEMBL:ENSP00000508600.1", "ENSEMBL:ENSP00000508677", "ENSEMBL:ENSP00000508677.1", "ENSEMBL:ENSP00000510118", "ENSEMBL:ENSP00000510118.1"], "information_content": 100.0}
{"id": "UniProtKB:Q969S0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleotide sugar transporter SLC35B4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969S0-1", "PR:Q969S0-1", "ENSEMBL:ENSP00000367770", "ENSEMBL:ENSP00000367770.4"], "information_content": 100.0}
{"id": "UniProtKB:P49916-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA ligase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49916-1", "PR:P49916-1", "ENSEMBL:ENSP00000367787", "ENSEMBL:ENSP00000367787.3"], "information_content": 95.4}
{"id": "UniProtKB:Q5T089-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MORN repeat-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T089-1", "PR:Q5T089-1", "ENSEMBL:ENSP00000367792", "ENSEMBL:ENSP00000367792.3"], "information_content": 100.0}
{"id": "UniProtKB:P78539-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sushi repeat-containing protein SRPX isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P78539-1", "PR:P78539-1", "ENSEMBL:ENSP00000367794", "ENSEMBL:ENSP00000367794.3"], "information_content": 100.0}
{"id": "NCBIGene:6497", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SKI", "equivalent_identifiers": ["NCBIGene:6497", "ENSEMBL:ENSG00000157933", "HGNC:10896", "OMIM:164780", "UMLS:C0812379", "UniProtKB:P12755", "PR:P12755", "ENSEMBL:ENSP00000367797", "ENSEMBL:ENSP00000367797.4", "UMLS:C1448597", "MESH:C060614"], "information_content": 88.2}
{"id": "NCBIGene:6217", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS16", "equivalent_identifiers": ["NCBIGene:6217", "ENSEMBL:ENSG00000105193", "HGNC:10396", "OMIM:603675", "UMLS:C1419712", "UniProtKB:M0R210", "ENSEMBL:ENSP00000472231", "ENSEMBL:ENSP00000472231.1", "UniProtKB:P62249", "PR:P62249", "ENSEMBL:ENSP00000251453", "ENSEMBL:ENSP00000251453.2", "UniProtKB:Q6IPX4", "ENSEMBL:ENSP00000367806", "ENSEMBL:ENSP00000367806.2"]}
{"id": "UniProtKB:Q8NEP3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal assembly factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEP3-1", "PR:Q8NEP3-1", "ENSEMBL:ENSP00000367815", "ENSEMBL:ENSP00000367815.5"], "information_content": 100.0}
{"id": "UniProtKB:O00592-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "podocalyxin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00592-1", "PR:O00592-1", "ENSEMBL:ENSP00000367817", "ENSEMBL:ENSP00000367817.3"], "information_content": 100.0}
{"id": "UniProtKB:Q05513-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein kinase C zeta type isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q05513-1", "PR:Q05513-1", "ENSEMBL:ENSP00000367830", "ENSEMBL:ENSP00000367830.3"], "information_content": 100.0}
{"id": "NCBIGene:6354", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL7", "equivalent_identifiers": ["NCBIGene:6354", "ENSEMBL:ENSG00000108688", "HGNC:10634", "OMIM:158106", "UMLS:C1332692", "UniProtKB:P80098", "PR:P80098", "ENSEMBL:ENSP00000367832", "ENSEMBL:ENSP00000367832.2", "UMLS:C0214733", "MESH:C515450"], "information_content": 89.4}
{"id": "MONDO:0004855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tenosynovitis", "equivalent_identifiers": ["MONDO:0004855", "DOID:970", "EFO:1001435", "UMLS:C0039520", "MESH:D013717", "MEDDRA:10043261", "MEDDRA:10063127", "MEDDRA:10067216", "MEDDRA:10078642", "SNOMEDCT:67801009", "medgen:52670", "icd11.foundation:163006370"], "information_content": 92.8}
{"id": "NCBIGene:6990", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYNLT3", "equivalent_identifiers": ["NCBIGene:6990", "ENSEMBL:ENSG00000165169", "HGNC:11694", "OMIM:300302", "UMLS:C1825019", "UniProtKB:P51808", "PR:P51808", "ENSEMBL:ENSP00000367841", "ENSEMBL:ENSP00000367841.4", "UMLS:C3180372", "MESH:C557011"], "information_content": 89.4}
{"id": "NCBIGene:2563", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABRD", "equivalent_identifiers": ["NCBIGene:2563", "ENSEMBL:ENSG00000187730", "HGNC:4084", "OMIM:137163", "UMLS:C1414917", "UniProtKB:A8K496", "UMLS:C1142899", "UniProtKB:O14764", "PR:O14764", "ENSEMBL:ENSP00000367848", "ENSEMBL:ENSP00000367848.4"], "information_content": 100.0}
{"id": "NCBIGene:1536", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYBB", "equivalent_identifiers": ["NCBIGene:1536", "ENSEMBL:ENSG00000165168", "HGNC:2578", "OMIM:300481", "UMLS:C1413844", "UniProtKB:A0A0S2Z3S6", "UniProtKB:P04839", "PR:P04839", "ENSEMBL:ENSP00000367851", "ENSEMBL:ENSP00000367851.4", "UMLS:C1429424", "MESH:C056558"], "information_content": 89.4}
{"id": "UniProtKB:P62873-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62873-1", "PR:P62873-1", "ENSEMBL:ENSP00000367872", "ENSEMBL:ENSP00000367872.3", "ENSEMBL:ENSP00000481878", "ENSEMBL:ENSP00000481878.1", "ENSEMBL:ENSP00000515427", "ENSEMBL:ENSP00000515427.1", "ENSEMBL:ENSP00000515428", "ENSEMBL:ENSP00000515428.1", "ENSEMBL:ENSP00000515429", "ENSEMBL:ENSP00000515429.1", "ENSEMBL:ENSP00000515431", "ENSEMBL:ENSP00000515431.1", "ENSEMBL:ENSP00000515432", "ENSEMBL:ENSP00000515432.1", "ENSEMBL:ENSP00000515433", "ENSEMBL:ENSP00000515433.1", "ENSEMBL:ENSP00000515434", "ENSEMBL:ENSP00000515434.1", "ENSEMBL:ENSP00000515435", "ENSEMBL:ENSP00000515435.1", "ENSEMBL:ENSP00000515436", "ENSEMBL:ENSP00000515436.1", "ENSEMBL:ENSP00000515437", "ENSEMBL:ENSP00000515437.1", "ENSEMBL:ENSP00000515438", "ENSEMBL:ENSP00000515438.1", "ENSEMBL:ENSP00000515440", "ENSEMBL:ENSP00000515440.1", "ENSEMBL:ENSP00000515442", "ENSEMBL:ENSP00000515442.1", "ENSEMBL:ENSP00000515443", "ENSEMBL:ENSP00000515443.1", "ENSEMBL:ENSP00000515444", "ENSEMBL:ENSP00000515444.1", "ENSEMBL:ENSP00000515445", "ENSEMBL:ENSP00000515445.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6J7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centriolar satellite-associated tubulin polyglutamylase complex regulator 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6J7-2", "PR:Q9H6J7-2", "ENSEMBL:ENSP00000367878", "ENSEMBL:ENSP00000367878.3"], "information_content": 100.0}
{"id": "NCBIGene:7504", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XK", "equivalent_identifiers": ["NCBIGene:7504", "ENSEMBL:ENSG00000047597", "HGNC:12811", "OMIM:314850", "UMLS:C1421537", "UniProtKB:P51811", "PR:P51811", "ENSEMBL:ENSP00000367879", "ENSEMBL:ENSP00000367879.3", "UMLS:C0256075", "MESH:C087883"], "information_content": 95.4}
{"id": "MONDO:0009319", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pantothenate kinase-associated neurodegeneration", "equivalent_identifiers": ["MONDO:0009319", "DOID:3981", "OMIM:234200", "orphanet:157850", "UMLS:C0018523", "MESH:D006211", "MEDDRA:10083280", "NCIT:C84988", "NCIT:C8967", "SNOMEDCT:2992000", "medgen:6708"], "information_content": 92.8}
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{"id": "UniProtKB:Q6ZV70-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LanC-like protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZV70-1", "PR:Q6ZV70-1", "ENSEMBL:ENSP00000367882", "ENSEMBL:ENSP00000367882.4"], "information_content": 100.0}
{"id": "NCBIGene:4038", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRP4", "equivalent_identifiers": ["NCBIGene:4038", "ENSEMBL:ENSG00000134569", "HGNC:6696", "OMIM:604270", "UMLS:C1416916", "UniProtKB:O75096", "PR:O75096", "ENSEMBL:ENSP00000367888", "ENSEMBL:ENSP00000367888.1", "UMLS:C2973421", "MESH:C551781"], "information_content": 89.4}
{"id": "UniProtKB:O95544-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NAD kinase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O95544-2", "PR:O95544-2", "ENSEMBL:ENSP00000367890", "ENSEMBL:ENSP00000367890.1"], "information_content": 100.0}
{"id": "UniProtKB:P49903-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "selenide, water dikinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49903-1", "PR:P49903-1", "ENSEMBL:ENSP00000367893", "ENSEMBL:ENSP00000367893.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQ88-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 11A isoform hSV6 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ88-1", "PR:Q9UQ88-1", "ENSEMBL:ENSP00000367900", "ENSEMBL:ENSP00000367900.1"], "information_content": 100.0}
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{"id": "NCBIGene:442444", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM47C", "equivalent_identifiers": ["NCBIGene:442444", "ENSEMBL:ENSG00000198173", "HGNC:25301", "OMIM:301067", "UMLS:C1825113", "UniProtKB:Q5HY64", "PR:Q5HY64", "ENSEMBL:ENSP00000367913", "ENSEMBL:ENSP00000367913.3", "UMLS:C4553817", "UMLS:C5391255", "MESH:C000656544"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZTR5-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 47 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZTR5-5", "PR:Q6ZTR5-5", "ENSEMBL:ENSP00000367922", "ENSEMBL:ENSP00000367922.5"], "information_content": 100.0}
{"id": "NCBIGene:165140", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OXER1", "equivalent_identifiers": ["NCBIGene:165140", "ENSEMBL:ENSG00000162881", "HGNC:24884", "OMIM:620064", "UMLS:C1428424", "UniProtKB:Q8TDS5", "PR:Q8TDS5", "ENSEMBL:ENSP00000367930", "ENSEMBL:ENSP00000367930.3", "UMLS:C1612089", "MESH:C504018"], "information_content": 100.0}
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{"id": "NCBIGene:27089", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UQCRQ", "equivalent_identifiers": ["NCBIGene:27089", "ENSEMBL:ENSG00000164405", "HGNC:29594", "OMIM:612080", "UMLS:C1823602", "UniProtKB:O14949", "PR:O14949", "ENSEMBL:ENSP00000367934", "ENSEMBL:ENSP00000367934.1", "ENSEMBL:ENSP00000367936", "ENSEMBL:ENSP00000367936.1", "ENSEMBL:ENSP00000367939", "ENSEMBL:ENSP00000367939.3"], "information_content": 92.8}
{"id": "MONDO:0020727", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 22", "equivalent_identifiers": ["MONDO:0020727", "DOID:0111498", "OMIM:616045", "UMLS:C4015062", "medgen:863499"], "information_content": 100.0}
{"id": "NCBIGene:2661", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GDF9", "equivalent_identifiers": ["NCBIGene:2661", "ENSEMBL:ENSG00000164404", "HGNC:4224", "OMIM:601918", "UMLS:C1333668", "UniProtKB:B4DXG3", "ENSEMBL:ENSP00000296875", "ENSEMBL:ENSP00000296875.3", "ENSEMBL:ENSP00000484339", "ENSEMBL:ENSP00000484339.1", "ENSEMBL:ENSP00000485037", "ENSEMBL:ENSP00000485037.1", "ENSEMBL:ENSP00000485231", "ENSEMBL:ENSP00000485231.1", "UniProtKB:O60383", "PR:O60383", "ENSEMBL:ENSP00000367942", "ENSEMBL:ENSP00000367942.2", "ENSEMBL:ENSP00000509893", "ENSEMBL:ENSP00000509893.1", "ENSEMBL:ENSP00000510441", "ENSEMBL:ENSP00000510441.1", "UMLS:C1686883", "MESH:C525897"], "information_content": 100.0}
{"id": "UniProtKB:Q2M3G4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Shroom1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2M3G4-1", "PR:Q2M3G4-1", "ENSEMBL:ENSP00000367950", "ENSEMBL:ENSP00000367950.3", "ENSEMBL:ENSP00000478436", "ENSEMBL:ENSP00000478436.1"], "information_content": 100.0}
{"id": "MONDO:0002204", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient arthritis", "equivalent_identifiers": ["MONDO:0002204", "DOID:2092", "UMLS:C3887596", "SNOMEDCT:6011000119108", "medgen:854445", "icd11.foundation:846745561", "ICD10:M12.8", "ICD9:716.4"], "information_content": 100.0}
{"id": "NCBIGene:221044", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UCMA", "equivalent_identifiers": ["NCBIGene:221044", "ENSEMBL:ENSG00000165623", "HGNC:25205", "UMLS:C2681106", "UniProtKB:A0A067XJP8", "UniProtKB:A0A067XJX6", "UniProtKB:A0A067XKV3", "UniProtKB:Q8WVF2", "PR:Q8WVF2", "ENSEMBL:ENSP00000367952", "ENSEMBL:ENSP00000367952.3"], "information_content": 92.8}
{"id": "MONDO:0011837", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitamin K-dependent clotting factors, combined deficiency of, type 2", "equivalent_identifiers": ["MONDO:0011837", "DOID:0112174", "OMIM:607473", "UMLS:C1843832", "MESH:C564393", "medgen:334505"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWM5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GLIPR1-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWM5-1", "PR:Q6UWM5-1", "ENSEMBL:ENSP00000367967", "ENSEMBL:ENSP00000367967.4"], "information_content": 100.0}
{"id": "NCBIGene:3400", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ID4", "equivalent_identifiers": ["NCBIGene:3400", "ENSEMBL:ENSG00000172201", "HGNC:5363", "OMIM:600581", "UMLS:C1415857", "UniProtKB:P47928", "PR:P47928", "ENSEMBL:ENSP00000367972", "ENSEMBL:ENSP00000367972.3", "UMLS:C1455524", "MESH:C490128"], "information_content": 95.4}
{"id": "UniProtKB:Q92599-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "septin-8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92599-1", "PR:Q92599-1", "ENSEMBL:ENSP00000367991", "ENSEMBL:ENSP00000367991.2"], "information_content": 100.0}
{"id": "NCBIGene:2098", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ESD", "equivalent_identifiers": ["NCBIGene:2098", "ENSEMBL:ENSG00000139684", "HGNC:3465", "OMIM:133280", "UMLS:C1414459", "UniProtKB:A0A140VJJ2", "UMLS:C0059604", "MESH:C020118", "UniProtKB:P10768", "PR:P10768", "ENSEMBL:ENSP00000367992", "ENSEMBL:ENSP00000367992.3"], "information_content": 87.2}
{"id": "NCBIGene:339453", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM240", "equivalent_identifiers": ["NCBIGene:339453", "ENSEMBL:ENSG00000205090", "HGNC:25186", "OMIM:616101", "UMLS:C3470100", "UniProtKB:Q5SV17", "PR:Q5SV17", "ENSEMBL:ENSP00000368007", "ENSEMBL:ENSP00000368007.4", "UMLS:C3884133", "MESH:C000592813"], "information_content": 100.0}
{"id": "MONDO:0016612", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked cerebellar ataxia", "equivalent_identifiers": ["MONDO:0016612", "DOID:0050953", "DOID:0111828", "orphanet:247765"], "information_content": 84.8}
{"id": "NCBIGene:5078", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAX4", "equivalent_identifiers": ["NCBIGene:5078", "ENSEMBL:ENSG00000106331", "HGNC:8618", "OMIM:167413", "UMLS:C1418275", "UniProtKB:A0A1W2PPX4", "ENSEMBL:ENSP00000491782", "ENSEMBL:ENSP00000491782.1", "UniProtKB:J3KPG0", "ENSEMBL:ENSP00000368014", "ENSEMBL:ENSP00000368014.4"]}
{"id": "UniProtKB:Q96CV9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "optineurin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CV9-1", "PR:Q96CV9-1", "ENSEMBL:ENSP00000263036", "ENSEMBL:ENSP00000263036.3", "ENSEMBL:ENSP00000368021", "ENSEMBL:ENSP00000368021.3", "ENSEMBL:ENSP00000368022", "ENSEMBL:ENSP00000368022.3", "ENSEMBL:ENSP00000368032", "ENSEMBL:ENSP00000368032.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVI7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATPase family AAA domain-containing protein 3A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVI7-1", "PR:Q9NVI7-1", "ENSEMBL:ENSP00000368030", "ENSEMBL:ENSP00000368030.5"], "information_content": 100.0}
{"id": "NCBIGene:219293", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATAD3C", "equivalent_identifiers": ["NCBIGene:219293", "ENSEMBL:ENSG00000215915", "HGNC:32151", "OMIM:617227", "UMLS:C1825096", "UniProtKB:Q5T2N8", "PR:Q5T2N8", "ENSEMBL:ENSP00000368062", "ENSEMBL:ENSP00000368062.2", "UMLS:C3490641", "MESH:C570560"], "information_content": 100.0}
{"id": "NCBIGene:54363", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HAO1", "equivalent_identifiers": ["NCBIGene:54363", "ENSEMBL:ENSG00000101323", "HGNC:4809", "OMIM:605023", "UMLS:C1415468", "UniProtKB:A8K058", "UMLS:C0914434", "MESH:C408463", "UniProtKB:Q9UJM8", "PR:Q9UJM8", "ENSEMBL:ENSP00000368066", "ENSEMBL:ENSP00000368066.3"], "information_content": 92.8}
{"id": "UniProtKB:Q6ZWL3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 4V2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZWL3-1", "PR:Q6ZWL3-1", "ENSEMBL:ENSP00000368079", "ENSEMBL:ENSP00000368079.4"], "information_content": 100.0}
{"id": "MONDO:0010137", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thyroid dyshormonogenesis 5", "equivalent_identifiers": ["MONDO:0010137", "DOID:0112184", "OMIM:274900", "UMLS:C0342196", "MESH:C562771", "SNOMEDCT:63127008", "medgen:87430"], "information_content": 100.0}
{"id": "UniProtKB:Q92878-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA repair protein RAD50 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92878-1", "PR:Q92878-1", "ENSEMBL:ENSP00000368100", "ENSEMBL:ENSP00000368100.4"], "information_content": 100.0}
{"id": "NCBIGene:650", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BMP2", "equivalent_identifiers": ["NCBIGene:650", "ENSEMBL:ENSG00000125845", "HGNC:1069", "OMIM:112261", "UMLS:C1332424", "UniProtKB:C8C060", "UniProtKB:P12643", "PR:P12643", "ENSEMBL:ENSP00000368104", "ENSEMBL:ENSP00000368104.3", "UMLS:C1567772", "MESH:C525718"], "information_content": 90.9}
{"id": "NCBIGene:390110", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACCSL", "equivalent_identifiers": ["NCBIGene:390110", "ENSEMBL:ENSG00000205126", "HGNC:34391", "UMLS:C2681402", "UniProtKB:Q3C1W0", "UniProtKB:Q4AC99", "PR:Q4AC99", "ENSEMBL:ENSP00000368109", "ENSEMBL:ENSP00000368109.1"], "information_content": 100.0}
{"id": "UniProtKB:P07902-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "galactose-1-phosphate uridylyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P07902-1", "PR:P07902-1", "ENSEMBL:ENSP00000368119", "ENSEMBL:ENSP00000368119.4"], "information_content": 100.0}
{"id": "NCBIGene:441054", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP96", "equivalent_identifiers": ["NCBIGene:441054", "ENSEMBL:ENSG00000205129", "HGNC:34346", "UMLS:C2681225", "UniProtKB:A7E2U8", "PR:A7E2U8", "ENSEMBL:ENSP00000368127", "ENSEMBL:ENSP00000368127.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJA2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cardiolipin synthase (CMP-forming) isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJA2-1", "PR:Q9UJA2-1", "ENSEMBL:ENSP00000368140", "ENSEMBL:ENSP00000368140.4"], "information_content": 100.0}
{"id": "MONDO:0010479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease X-linked dominant 6", "equivalent_identifiers": ["MONDO:0010479", "DOID:0110207", "OMIM:300905", "orphanet:352675", "UMLS:C3806702", "SNOMEDCT:763347000", "medgen:813032"], "information_content": 100.0}
{"id": "MONDO:0012231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 2A2", "equivalent_identifiers": ["MONDO:0012231", "DOID:0110155", "OMIM:609260", "orphanet:99947", "UMLS:C1836485", "UMLS:C4721887", "MESH:C563757", "NCIT:C150646", "SNOMEDCT:764850002", "medgen:1648317", "icd11.foundation:1274363794"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJA3-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA helicase MCM8 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJA3-4", "PR:Q9UJA3-4", "ENSEMBL:ENSP00000368164", "ENSEMBL:ENSP00000368164.2"], "information_content": 100.0}
{"id": "NCBIGene:644096", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDHAF1", "equivalent_identifiers": ["NCBIGene:644096", "ENSEMBL:ENSG00000205138", "HGNC:33867", "OMIM:612848", "UMLS:C2748512", "UniProtKB:A6NFY7", "PR:A6NFY7", "ENSEMBL:ENSP00000368165", "ENSEMBL:ENSP00000368165.2", "UMLS:C2974123", "MESH:C553227"], "information_content": 100.0}
{"id": "MONDO:0013546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 2", "equivalent_identifiers": ["MONDO:0013546", "DOID:0060331", "OMIM:614052", "orphanet:1194", "UMLS:C3279699", "UMLS:C4273660", "MESH:C567528", "SNOMEDCT:718212006", "medgen:481329"], "information_content": 100.0}
{"id": "UniProtKB:O14640-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "segment polarity protein dishevelled homolog DVL-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14640-1", "PR:O14640-1", "ENSEMBL:ENSP00000368166", "ENSEMBL:ENSP00000368166.5"], "information_content": 100.0}
{"id": "UniProtKB:O60500-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nephrin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60500-1", "PR:O60500-1", "ENSEMBL:ENSP00000368190", "ENSEMBL:ENSP00000368190.4"], "information_content": 95.4}
{"id": "UniProtKB:A6NFU8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyroglutamyl-peptidase 1-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NFU8-1", "PR:A6NFU8-1", "ENSEMBL:ENSP00000368199", "ENSEMBL:ENSP00000368199.6"], "information_content": 100.0}
{"id": "NCBIGene:53940", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FTHL17", "equivalent_identifiers": ["NCBIGene:53940", "ENSEMBL:ENSG00000132446", "HGNC:3987", "OMIM:300308", "UMLS:C1414843", "UniProtKB:A0A384NPV7", "UMLS:C4077056", "MESH:C000600682", "UniProtKB:Q9BXU8", "PR:Q9BXU8", "ENSEMBL:ENSP00000368207", "ENSEMBL:ENSP00000368207.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5C8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TGF-beta-activated kinase 1 and MAP3K7-binding protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5C8-1", "PR:Q8N5C8-1", "ENSEMBL:ENSP00000288422", "ENSEMBL:ENSP00000288422.4", "ENSEMBL:ENSP00000368212", "ENSEMBL:ENSP00000368212.3", "ENSEMBL:ENSP00000368215", "ENSEMBL:ENSP00000368215.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHH9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "atlastin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHH9-1", "PR:Q8NHH9-1", "ENSEMBL:ENSP00000368237", "ENSEMBL:ENSP00000368237.4"], "information_content": 100.0}
{"id": "NCBIGene:1114", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHGB", "equivalent_identifiers": ["NCBIGene:1114", "ENSEMBL:ENSG00000089199", "HGNC:1930", "OMIM:118920", "UMLS:C1332755", "UniProtKB:P05060", "PR:P05060", "ENSEMBL:ENSP00000368244", "ENSEMBL:ENSP00000368244.4", "UMLS:C1569747", "MESH:C506134"], "information_content": 84.8}
{"id": "NCBIGene:80231", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TASL", "equivalent_identifiers": ["NCBIGene:80231", "ENSEMBL:ENSG00000120280", "HGNC:25667", "OMIM:301049", "UMLS:C1539172", "UniProtKB:Q9HAI6", "PR:Q9HAI6", "ENSEMBL:ENSP00000368245", "ENSEMBL:ENSP00000368245.3", "UMLS:C5197357", "MESH:C000632131"], "information_content": 92.8}
{"id": "UniProtKB:P51843-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor subfamily 0 group B member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P51843-1", "PR:P51843-1", "ENSEMBL:ENSP00000368253", "ENSEMBL:ENSP00000368253.4"], "information_content": 100.0}
{"id": "NCBIGene:4112", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEB1", "equivalent_identifiers": ["NCBIGene:4112", "ENSEMBL:ENSG00000214107", "HGNC:6808", "OMIM:300097", "UMLS:C1416981", "UniProtKB:P43366", "PR:P43366", "ENSEMBL:ENSP00000368264", "ENSEMBL:ENSP00000368264.3", "ENSEMBL:ENSP00000380681", "ENSEMBL:ENSP00000380681.2", "ENSEMBL:ENSP00000380683", "ENSEMBL:ENSP00000380683.1", "UMLS:C1430354", "MESH:C097488"], "information_content": 100.0}
{"id": "NCBIGene:1271", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNTFR", "equivalent_identifiers": ["NCBIGene:1271", "ENSEMBL:ENSG00000122756", "HGNC:2170", "OMIM:118946", "UMLS:C1413558", "UniProtKB:P26992", "PR:P26992", "ENSEMBL:ENSP00000242338", "ENSEMBL:ENSP00000242338.4", "ENSEMBL:ENSP00000368265", "ENSEMBL:ENSP00000368265.3", "ENSEMBL:ENSP00000480451", "ENSEMBL:ENSP00000480451.1", "UMLS:C2932934", "MESH:C548324"], "information_content": 95.4}
{"id": "NCBIGene:4115", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEB4", "equivalent_identifiers": ["NCBIGene:4115", "ENSEMBL:ENSG00000120289", "HGNC:6811", "OMIM:300153", "UMLS:C1416984", "UniProtKB:O15481", "PR:O15481", "ENSEMBL:ENSP00000368266", "ENSEMBL:ENSP00000368266.2", "UMLS:C4549679", "MESH:C000626007"], "information_content": 100.0}
{"id": "NCBIGene:4113", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEB2", "equivalent_identifiers": ["NCBIGene:4113", "ENSEMBL:ENSG00000099399", "HGNC:6809", "OMIM:300098", "UMLS:C1416982", "UniProtKB:O15479", "PR:O15479", "ENSEMBL:ENSP00000368273", "ENSEMBL:ENSP00000368273.4", "UMLS:C1307644", "UMLS:C3810524", "MESH:C072012", "UniProtKB:Q53G50"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZN1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-1 receptor accessory protein-like 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZN1-1", "PR:Q9NZN1-1", "ENSEMBL:ENSP00000368278", "ENSEMBL:ENSP00000368278.1"], "information_content": 100.0}
{"id": "NCBIGene:139422", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEB10", "equivalent_identifiers": ["NCBIGene:139422", "ENSEMBL:ENSG00000177689", "HGNC:25377", "OMIM:300761", "UMLS:C1537637", "UniProtKB:Q96LZ2", "PR:Q96LZ2", "ENSEMBL:ENSP00000368304", "ENSEMBL:ENSP00000368304.1", "ENSEMBL:ENSP00000480889", "ENSEMBL:ENSP00000480889.1"], "information_content": 100.0}
{"id": "NCBIGene:56261", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPCPD1", "equivalent_identifiers": ["NCBIGene:56261", "ENSEMBL:ENSG00000125772", "HGNC:26957", "OMIM:614124", "UMLS:C2829540", "UniProtKB:Q9NPB8", "PR:Q9NPB8", "ENSEMBL:ENSP00000368305", "ENSEMBL:ENSP00000368305.4", "ENSEMBL:ENSP00000520780", "ENSEMBL:ENSP00000520780.1", "UMLS:C3493587", "MESH:C573928"], "information_content": 100.0}
{"id": "UniProtKB:Q92823-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal cell adhesion molecule isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92823-1", "PR:Q92823-1", "ENSEMBL:ENSP00000368314", "ENSEMBL:ENSP00000368314.3"], "information_content": 100.0}
{"id": "NCBIGene:170302", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARX", "equivalent_identifiers": ["NCBIGene:170302", "ENSEMBL:ENSG00000004848", "HGNC:18060", "OMIM:300382", "UMLS:C1425272", "UniProtKB:Q96QS3", "PR:Q96QS3", "ENSEMBL:ENSP00000368332", "ENSEMBL:ENSP00000368332.4", "UMLS:C1172629", "MESH:C469264"], "information_content": 100.0}
{"id": "UniProtKB:Q9BX46-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 24 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BX46-1", "PR:Q9BX46-1", "ENSEMBL:ENSP00000368341", "ENSEMBL:ENSP00000368341.5"], "information_content": 100.0}
{"id": "UniProtKB:O94806-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase D3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94806-1", "PR:O94806-1", "ENSEMBL:ENSP00000234179", "ENSEMBL:ENSP00000234179.2", "ENSEMBL:ENSP00000368356", "ENSEMBL:ENSP00000368356.1"], "information_content": 100.0}
{"id": "NCBIGene:5422", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLA1", "equivalent_identifiers": ["NCBIGene:5422", "ENSEMBL:ENSG00000101868", "HGNC:9173", "OMIM:312040", "UMLS:C1826642", "UniProtKB:A6NMQ1", "ENSEMBL:ENSP00000368358", "ENSEMBL:ENSP00000368358.3", "UniProtKB:P09884", "PR:P09884", "ENSEMBL:ENSP00000368349", "ENSEMBL:ENSP00000368349.3"]}
{"id": "UniProtKB:P19544-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Wilms tumor protein isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:P19544-6", "PR:P19544-6", "ENSEMBL:ENSP00000368370", "ENSEMBL:ENSP00000368370.2"], "information_content": 100.0}
{"id": "NCBIGene:201229", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LYRM9", "equivalent_identifiers": ["NCBIGene:201229", "ENSEMBL:ENSG00000232859", "HGNC:27314", "UMLS:C2828932", "UniProtKB:A8MSI8", "PR:A8MSI8", "ENSEMBL:ENSP00000368396", "ENSEMBL:ENSP00000368396.3", "ENSEMBL:ENSP00000368397", "ENSEMBL:ENSP00000368397.2"], "information_content": 100.0}
{"id": "NCBIGene:386618", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCTD4", "equivalent_identifiers": ["NCBIGene:386618", "ENSEMBL:ENSG00000180332", "HGNC:23227", "OMIM:620638", "UMLS:C1428003", "UniProtKB:Q8WVF5", "PR:Q8WVF5", "ENSEMBL:ENSP00000368402", "ENSEMBL:ENSP00000368402.1"], "information_content": 95.4}
{"id": "UniProtKB:P51172-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epithelial sodium channel subunit delta isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P51172-3", "PR:P51172-3", "ENSEMBL:ENSP00000368411", "ENSEMBL:ENSP00000368411.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5K3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choline-phosphate cytidylyltransferase B isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5K3-1", "PR:Q9Y5K3-1", "ENSEMBL:ENSP00000368439", "ENSEMBL:ENSP00000368439.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXQ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GPALPP motifs-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXQ4-1", "PR:Q8IXQ4-1", "ENSEMBL:ENSP00000368447", "ENSEMBL:ENSP00000368447.4", "ENSEMBL:ENSP00000432500", "ENSEMBL:ENSP00000432500.1"], "information_content": 100.0}
{"id": "MONDO:0017596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse large B-cell lymphoma of the central nervous system", "equivalent_identifiers": ["MONDO:0017596", "DOID:0081313", "orphanet:300849", "UMLS:C2026186", "NCIT:C71720", "SNOMEDCT:734066005", "medgen:378339", "icd11.foundation:1029172881"], "information_content": 84.8}
{"id": "NCBIGene:9308", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD83", "equivalent_identifiers": ["NCBIGene:9308", "ENSEMBL:ENSG00000112149", "HGNC:1703", "OMIM:604534", "UMLS:C1413241", "UniProtKB:A0A087WX61", "ENSEMBL:ENSP00000480760", "ENSEMBL:ENSP00000480760.1", "UniProtKB:Q01151", "PR:Q01151", "ENSEMBL:ENSP00000368450", "ENSEMBL:ENSP00000368450.3", "UMLS:C1620157", "MESH:C000728065"], "information_content": 86.3}
{"id": "NCBIGene:5111", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCNA", "equivalent_identifiers": ["NCBIGene:5111", "ENSEMBL:ENSG00000132646", "HGNC:8729", "OMIM:176740", "UMLS:C1366837", "UniProtKB:P12004", "PR:P12004", "ENSEMBL:ENSP00000368438", "ENSEMBL:ENSP00000368438.5", "ENSEMBL:ENSP00000368458", "ENSEMBL:ENSP00000368458.3", "UMLS:C4743287", "MESH:C000629262"], "information_content": 85.5}
{"id": "NCBIGene:26747", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUFIP1", "equivalent_identifiers": ["NCBIGene:26747", "ENSEMBL:ENSG00000083635", "HGNC:8057", "OMIM:604354", "UMLS:C1417888", "UniProtKB:Q9UHK0", "PR:Q9UHK0", "ENSEMBL:ENSP00000368459", "ENSEMBL:ENSP00000368459.4", "UMLS:C0911463", "MESH:C403092"], "information_content": 95.4}
{"id": "UniProtKB:Q96AQ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial calcium uniporter regulator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AQ8-1", "PR:Q96AQ8-1", "ENSEMBL:ENSP00000368468", "ENSEMBL:ENSP00000368468.3"], "information_content": 100.0}
{"id": "NCBIGene:387923", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERP2", "equivalent_identifiers": ["NCBIGene:387923", "ENSEMBL:ENSG00000151778", "HGNC:20607", "UMLS:C1539029", "UniProtKB:Q8N6R1", "PR:Q8N6R1", "ENSEMBL:ENSP00000368477", "ENSEMBL:ENSP00000368477.3"], "information_content": 95.4}
{"id": "UniProtKB:P17010-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger X-chromosomal protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P17010-3", "PR:P17010-3", "ENSEMBL:ENSP00000368486", "ENSEMBL:ENSP00000368486.4"], "information_content": 100.0}
{"id": "NCBIGene:126792", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B3GALT6", "equivalent_identifiers": ["NCBIGene:126792", "ENSEMBL:ENSG00000176022", "HGNC:17978", "OMIM:615291", "UMLS:C1425214", "UniProtKB:Q96L58", "PR:Q96L58", "ENSEMBL:ENSP00000368496", "ENSEMBL:ENSP00000368496.2", "UMLS:C1312643", "MESH:C425302"], "information_content": 86.3}
{"id": "NCBIGene:201725", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C4orf46", "equivalent_identifiers": ["NCBIGene:201725", "ENSEMBL:ENSG00000205208", "HGNC:27320", "OMIM:616210", "UMLS:C2681224", "UniProtKB:Q504U0", "PR:Q504U0", "ENSEMBL:ENSP00000368503", "ENSEMBL:ENSP00000368503.4", "UMLS:C4042190", "MESH:C000597552"], "information_content": 95.4}
{"id": "MONDO:0013565", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group G", "equivalent_identifiers": ["MONDO:0013565", "DOID:0111086", "OMIM:614082", "EFO:0009046", "UMLS:C3469527", "NCIT:C125708", "medgen:854017"], "information_content": 92.8}
{"id": "UniProtKB:Q9BXB1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing G-protein coupled receptor 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXB1-1", "PR:Q9BXB1-1", "ENSEMBL:ENSP00000368516", "ENSEMBL:ENSP00000368516.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96DC8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "enoyl-CoA hydratase domain-containing protein 3, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DC8-1", "PR:Q96DC8-1", "ENSEMBL:ENSP00000368517", "ENSEMBL:ENSP00000368517.4"], "information_content": 100.0}
{"id": "NCBIGene:29103", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJC15", "equivalent_identifiers": ["NCBIGene:29103", "ENSEMBL:ENSG00000120675", "HGNC:20325", "OMIM:615339", "UMLS:C1824946", "UniProtKB:Q9Y5T4", "PR:Q9Y5T4", "ENSEMBL:ENSP00000368523", "ENSEMBL:ENSP00000368523.2", "UMLS:C1956664", "MESH:C519405"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUR5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MICOS complex subunit MIC26 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUR5-1", "PR:Q9BUR5-1", "ENSEMBL:ENSP00000368528", "ENSEMBL:ENSP00000368528.4"], "information_content": 100.0}
{"id": "NCBIGene:7293", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFRSF4", "equivalent_identifiers": ["NCBIGene:7293", "ENSEMBL:ENSG00000186827", "HGNC:11918", "OMIM:600315", "UMLS:C1420812", "UniProtKB:A0A8V8TQH5", "ENSEMBL:ENSP00000514730", "ENSEMBL:ENSP00000514730.1", "UniProtKB:P43489", "PR:P43489", "ENSEMBL:ENSP00000368538", "ENSEMBL:ENSP00000368538.3", "UMLS:C1608540", "MESH:C505716"], "information_content": 82.1}
{"id": "UniProtKB:Q9UHY8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fasciculation and elongation protein zeta-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHY8-2", "PR:Q9UHY8-2", "ENSEMBL:ENSP00000368547", "ENSEMBL:ENSP00000368547.4"], "information_content": 100.0}
{"id": "UniProtKB:Q99543-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily C member 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99543-1", "PR:Q99543-1", "ENSEMBL:ENSP00000368565", "ENSEMBL:ENSP00000368565.3"], "information_content": 100.0}
{"id": "NCBIGene:6303", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAT1", "equivalent_identifiers": ["NCBIGene:6303", "ENSEMBL:ENSG00000130066", "HGNC:10540", "OMIM:313020", "UMLS:C1822614", "UniProtKB:A0A384NQ10", "UniProtKB:P21673", "PR:P21673", "ENSEMBL:ENSP00000368572", "ENSEMBL:ENSP00000368572.4", "UMLS:C2744672"], "information_content": 92.8}
{"id": "UniProtKB:Q9NXC2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glucose-fructose oxidoreductase domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXC2-1", "PR:Q9NXC2-1", "ENSEMBL:ENSP00000368589", "ENSEMBL:ENSP00000368589.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZVT0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive polyglycylase TTLL10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZVT0-1", "PR:Q6ZVT0-1", "ENSEMBL:ENSP00000368591", "ENSEMBL:ENSP00000368591.1", "ENSEMBL:ENSP00000368592", "ENSEMBL:ENSP00000368592.1"], "information_content": 100.0}
{"id": "UniProtKB:A3KMH1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "von Willebrand factor A domain-containing protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A3KMH1-1", "PR:A3KMH1-1", "ENSEMBL:ENSP00000368612", "ENSEMBL:ENSP00000368612.3"], "information_content": 100.0}
{"id": "UniProtKB:P23771-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trans-acting T-cell-specific transcription factor GATA-3 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P23771-2", "PR:P23771-2", "ENSEMBL:ENSP00000368632", "ENSEMBL:ENSP00000368632.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9UGH3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 23 member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGH3-1", "PR:Q9UGH3-1", "ENSEMBL:ENSP00000344322", "ENSEMBL:ENSP00000344322.1", "ENSEMBL:ENSP00000368637", "ENSEMBL:ENSP00000368637.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96HA4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C1orf159 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HA4-1", "PR:Q96HA4-1", "ENSEMBL:ENSP00000368644", "ENSEMBL:ENSP00000368644.1"], "information_content": 100.0}
{"id": "NCBIGene:10549", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRDX4", "equivalent_identifiers": ["NCBIGene:10549", "ENSEMBL:ENSG00000123131", "HGNC:17169", "OMIM:300927", "UMLS:C1424792", "UniProtKB:Q13162", "PR:Q13162", "ENSEMBL:ENSP00000368646", "ENSEMBL:ENSP00000368646.4", "UMLS:C0633225", "MESH:C515980", "UniProtKB:V9HW63"], "information_content": 95.4}
{"id": "UniProtKB:Q6NXT4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc transporter 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6NXT4-2", "PR:Q6NXT4-2", "ENSEMBL:ENSP00000368648", "ENSEMBL:ENSP00000368648.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H4X1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of cell cycle RGCC isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4X1-1", "PR:Q9H4X1-1", "ENSEMBL:ENSP00000368664", "ENSEMBL:ENSP00000368664.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96NR3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "patched domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NR3-1", "PR:Q96NR3-1", "ENSEMBL:ENSP00000368666", "ENSEMBL:ENSP00000368666.4"], "information_content": 100.0}
{"id": "NCBIGene:168400", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX53", "equivalent_identifiers": ["NCBIGene:168400", "ENSEMBL:ENSG00000184735", "HGNC:20083", "OMIM:301079", "UMLS:C1426669", "UniProtKB:Q86TM3", "PR:Q86TM3", "ENSEMBL:ENSP00000368667", "ENSEMBL:ENSP00000368667.2", "UMLS:C1122319", "MESH:C454199"], "information_content": 100.0}
{"id": "UniProtKB:O00468-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "agrin isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:O00468-6", "PR:O00468-6", "ENSEMBL:ENSP00000368678", "ENSEMBL:ENSP00000368678.2"], "information_content": 100.0}
{"id": "NCBIGene:5251", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHEX", "equivalent_identifiers": ["NCBIGene:5251", "ENSEMBL:ENSG00000102174", "HGNC:8918", "OMIM:300550", "UMLS:C1418526", "UniProtKB:B4DNS0", "UniProtKB:B4DWG8", "UniProtKB:P78562", "PR:P78562", "ENSEMBL:ENSP00000368682", "ENSEMBL:ENSP00000368682.4", "UMLS:C1664203", "MESH:C506231"], "information_content": 90.9}
{"id": "MONDO:0006744", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endolymphatic hydrops", "equivalent_identifiers": ["MONDO:0006744", "DOID:9848", "EFO:1000918", "UMLS:C0206586", "MESH:D018159", "MEDDRA:10049934", "MEDDRA:10049944", "MEDDRA:10063899", "SNOMEDCT:27621000119100", "SNOMEDCT:70831000119103", "SNOMEDCT:9794007", "medgen:60183", "ICD10:H81.0"], "information_content": 89.4}
{"id": "NCBIGene:1906", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EDN1", "equivalent_identifiers": ["NCBIGene:1906", "ENSEMBL:ENSG00000078401", "HGNC:3176", "OMIM:131240", "UMLS:C1414260", "UniProtKB:P05305", "PR:P05305", "ENSEMBL:ENSP00000368683", "ENSEMBL:ENSP00000368683.5", "UMLS:C4316927", "UniProtKB:Q6FH53"], "information_content": 95.4}
{"id": "NCBIGene:1874", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "E2F4", "equivalent_identifiers": ["NCBIGene:1874", "ENSEMBL:ENSG00000205250", "HGNC:3118", "OMIM:600659", "UMLS:C1414227", "UniProtKB:Q16254", "PR:Q16254", "ENSEMBL:ENSP00000368686", "ENSEMBL:ENSP00000368686.3", "UMLS:C1529670", "MESH:C493762"], "information_content": 89.4}
{"id": "NCBIGene:90624", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LYRM7", "equivalent_identifiers": ["NCBIGene:90624", "ENSEMBL:ENSG00000186687", "HGNC:28072", "OMIM:615831", "UMLS:C1825926", "UniProtKB:D6RBV5", "ENSEMBL:ENSP00000423991", "ENSEMBL:ENSP00000423991.1", "UMLS:C3849895", "MESH:C000588844", "UniProtKB:Q5U5X0", "PR:Q5U5X0", "ENSEMBL:ENSP00000368688", "ENSEMBL:ENSP00000368688.4"], "information_content": 92.8}
{"id": "UniProtKB:P50749-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras association domain-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50749-1", "PR:P50749-1", "ENSEMBL:ENSP00000368684", "ENSEMBL:ENSP00000368684.2", "ENSEMBL:ENSP00000368710", "ENSEMBL:ENSP00000368710.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6N069-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-alpha-acetyltransferase 16, NatA auxiliary subunit isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6N069-1", "PR:Q6N069-1", "ENSEMBL:ENSP00000368716", "ENSEMBL:ENSP00000368716.3"], "information_content": 100.0}
{"id": "UniProtKB:Q494U1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family N member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q494U1-1", "PR:Q494U1-1", "ENSEMBL:ENSP00000368720", "ENSEMBL:ENSP00000368720.3"], "information_content": 100.0}
{"id": "NCBIGene:7498", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XDH", "equivalent_identifiers": ["NCBIGene:7498", "ENSEMBL:ENSG00000158125", "HGNC:12805", "OMIM:607633", "UMLS:C1421531", "UniProtKB:P47989", "PR:P47989", "ENSEMBL:ENSP00000368727", "ENSEMBL:ENSP00000368727.3", "UMLS:C5441738"], "information_content": 89.4}
{"id": "NCBIGene:100113407", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM170B", "equivalent_identifiers": ["NCBIGene:100113407", "ENSEMBL:ENSG00000205269", "HGNC:34244", "UMLS:C2680475", "UniProtKB:Q5T4T1", "PR:Q5T4T1", "ENSEMBL:ENSP00000368737", "ENSEMBL:ENSP00000368737.1"], "information_content": 95.4}
{"id": "NCBIGene:613212", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTXN3", "equivalent_identifiers": ["NCBIGene:613212", "ENSEMBL:ENSG00000205279", "HGNC:31110", "OMIM:618746", "UMLS:C1429082", "UniProtKB:Q4LDR2", "PR:Q4LDR2", "ENSEMBL:ENSP00000368758", "ENSEMBL:ENSP00000368758.3", "ENSEMBL:ENSP00000378732", "ENSEMBL:ENSP00000378732.3", "ENSEMBL:ENSP00000482081", "ENSEMBL:ENSP00000482081.1", "UMLS:C2001808", "MESH:C524838"], "information_content": 100.0}
{"id": "UniProtKB:Q14511-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "enhancer of filamentation 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14511-1", "PR:Q14511-1", "ENSEMBL:ENSP00000368759", "ENSEMBL:ENSP00000368759.5"], "information_content": 100.0}
{"id": "NCBIGene:146", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADRA1D", "equivalent_identifiers": ["NCBIGene:146", "ENSEMBL:ENSG00000171873", "HGNC:280", "OMIM:104219", "UMLS:C1412260", "UniProtKB:B0ZBE0", "UMLS:C2932399", "MESH:C547719", "UniProtKB:P25100", "PR:P25100", "ENSEMBL:ENSP00000368766", "ENSEMBL:ENSP00000368766.4"], "information_content": 100.0}
{"id": "UniProtKB:Q12797-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aspartyl/asparaginyl beta-hydroxylase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12797-1", "PR:Q12797-1", "ENSEMBL:ENSP00000368767", "ENSEMBL:ENSP00000368767.4"], "information_content": 100.0}
{"id": "UniProtKB:Q02505-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mucin-3A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02505-1", "PR:Q02505-1", "ENSEMBL:ENSP00000368771", "ENSEMBL:ENSP00000368771.5"], "information_content": 100.0}
{"id": "MONDO:0012506", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arrhythmogenic right ventricular dysplasia 11", "equivalent_identifiers": ["MONDO:0012506", "DOID:0110082", "OMIM:610476", "UMLS:C1864850", "UMLS:C4310824", "MESH:C566471", "medgen:351237"], "information_content": 100.0}
{"id": "UniProtKB:O75570-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptide chain release factor 1, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75570-1", "PR:O75570-1", "ENSEMBL:ENSP00000368790", "ENSEMBL:ENSP00000368790.1", "ENSEMBL:ENSP00000368793", "ENSEMBL:ENSP00000368793.3"], "information_content": 100.0}
{"id": "NCBIGene:84078", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KBTBD7", "equivalent_identifiers": ["NCBIGene:84078", "ENSEMBL:ENSG00000120696", "HGNC:25266", "OMIM:617739", "UMLS:C1428464", "UniProtKB:Q8WVZ9", "PR:Q8WVZ9", "ENSEMBL:ENSP00000368797", "ENSEMBL:ENSP00000368797.3", "UMLS:C2933694", "MESH:C549143"], "information_content": 95.4}
{"id": "NCBIGene:51360", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MBTPS2", "equivalent_identifiers": ["NCBIGene:51360", "ENSEMBL:ENSG00000012174", "HGNC:15455", "OMIM:300294", "UMLS:C1423501", "UniProtKB:O43462", "PR:O43462", "ENSEMBL:ENSP00000368798", "ENSEMBL:ENSP00000368798.5", "UMLS:C1438353", "MESH:C120654"], "information_content": 92.8}
{"id": "UniProtKB:O75554-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WW domain-binding protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75554-1", "PR:O75554-1", "ENSEMBL:ENSP00000368801", "ENSEMBL:ENSP00000368801.3"], "information_content": 100.0}
{"id": "NCBIGene:9247", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GCM2", "equivalent_identifiers": ["NCBIGene:9247", "ENSEMBL:ENSG00000124827", "HGNC:4198", "OMIM:603716", "UMLS:C1415017", "UniProtKB:O75603", "PR:O75603", "ENSEMBL:ENSP00000368805", "ENSEMBL:ENSP00000368805.4", "UMLS:C1431891", "MESH:C119532"], "information_content": 100.0}
{"id": "MONDO:0010787", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kearns-Sayre syndrome", "equivalent_identifiers": ["MONDO:0010787", "DOID:12934", "OMIM:530000", "orphanet:480", "UMLS:C0022541", "MESH:D007625", "MEDDRA:10048804", "NCIT:C84798", "SNOMEDCT:25792000", "SNOMEDCT:77835008", "medgen:9618", "icd11.foundation:399100745", "ICD10:H49.81"], "information_content": 100.0}
{"id": "NCBIGene:23676", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMPX", "equivalent_identifiers": ["NCBIGene:23676", "ENSEMBL:ENSG00000091482", "HGNC:11122", "OMIM:300226", "UMLS:C1420261", "UniProtKB:Q9UHP9", "PR:Q9UHP9", "ENSEMBL:ENSP00000368808", "ENSEMBL:ENSP00000368808.3", "ENSEMBL:ENSP00000493671", "ENSEMBL:ENSP00000493671.1", "ENSEMBL:ENSP00000495170", "ENSEMBL:ENSP00000495170.1", "UMLS:C1144514", "MESH:C433890"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZ96-17", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CKLF-like MARVEL transmembrane domain-containing protein 1 isoform h24 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZ96-17", "PR:Q8IZ96-17", "ENSEMBL:ENSP00000368814", "ENSEMBL:ENSP00000368814.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZVM7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TOM1-like protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZVM7-1", "PR:Q6ZVM7-1", "ENSEMBL:ENSP00000368818", "ENSEMBL:ENSP00000368818.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXI2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "connector enhancer of kinase suppressor of ras 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXI2-1", "PR:Q8WXI2-1", "ENSEMBL:ENSP00000368824", "ENSEMBL:ENSP00000368824.3"], "information_content": 100.0}
{"id": "UniProtKB:O60749-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60749-1", "PR:O60749-1", "ENSEMBL:ENSP00000368831", "ENSEMBL:ENSP00000368831.2"], "information_content": 100.0}
{"id": "NCBIGene:51646", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YPEL5", "equivalent_identifiers": ["NCBIGene:51646", "ENSEMBL:ENSG00000119801", "HGNC:18329", "OMIM:609726", "UMLS:C1538130", "UniProtKB:P62699", "PR:P62699", "ENSEMBL:ENSP00000261353", "ENSEMBL:ENSP00000261353.4", "ENSEMBL:ENSP00000368834", "ENSEMBL:ENSP00000368834.3", "ENSEMBL:ENSP00000368835", "ENSEMBL:ENSP00000368835.3", "ENSEMBL:ENSP00000383974", "ENSEMBL:ENSP00000383974.3", "ENSEMBL:ENSP00000385278", "ENSEMBL:ENSP00000385278.1", "UMLS:C2976525", "MESH:C553177"], "information_content": 95.4}
{"id": "UniProtKB:Q12986-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcriptional repressor NF-X1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12986-1", "PR:Q12986-1", "ENSEMBL:ENSP00000368856", "ENSEMBL:ENSP00000368856.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15723-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS-related transcription factor Elf-2 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q15723-5", "PR:Q15723-5", "ENSEMBL:ENSP00000368868", "ENSEMBL:ENSP00000368868.1", "ENSEMBL:ENSP00000510098", "ENSEMBL:ENSP00000510098.1"], "information_content": 100.0}
{"id": "UniProtKB:Q1MX18-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein inscuteable homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q1MX18-1", "PR:Q1MX18-1", "ENSEMBL:ENSP00000368872", "ENSEMBL:ENSP00000368872.3"], "information_content": 100.0}
{"id": "NCBIGene:2308", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXO1", "equivalent_identifiers": ["NCBIGene:2308", "ENSEMBL:ENSG00000150907", "HGNC:3819", "OMIM:136533", "UMLS:C1333572", "UniProtKB:Q12778", "PR:Q12778", "ENSEMBL:ENSP00000368880", "ENSEMBL:ENSP00000368880.4", "UMLS:C0250455", "MESH:C085126"], "information_content": 76.7}
{"id": "UniProtKB:O60870-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA/RNA-binding protein KIN17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60870-1", "PR:O60870-1", "ENSEMBL:ENSP00000368881", "ENSEMBL:ENSP00000368881.3"], "information_content": 100.0}
{"id": "NCBIGene:6197", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS6KA3", "equivalent_identifiers": ["NCBIGene:6197", "ENSEMBL:ENSG00000177189", "HGNC:10432", "OMIM:300075", "UMLS:C1419744", "UniProtKB:A0A384MDW3", "UniProtKB:B1AXG1", "ENSEMBL:ENSP00000407655", "ENSEMBL:ENSP00000407655.2", "UniProtKB:B4DG22", "ENSEMBL:ENSP00000495974", "ENSEMBL:ENSP00000495974.1", "UniProtKB:B7ZB17", "ENSEMBL:ENSP00000493487", "ENSEMBL:ENSP00000493487.1", "ENSEMBL:ENSP00000493862", "ENSEMBL:ENSP00000493862.1", "ENSEMBL:ENSP00000494220", "ENSEMBL:ENSP00000494220.1", "ENSEMBL:ENSP00000494769", "ENSEMBL:ENSP00000494769.1", "ENSEMBL:ENSP00000494967", "ENSEMBL:ENSP00000494967.1", "ENSEMBL:ENSP00000495462", "ENSEMBL:ENSP00000495462.1", "ENSEMBL:ENSP00000495776", "ENSEMBL:ENSP00000495776.1", "ENSEMBL:ENSP00000496271", "ENSEMBL:ENSP00000496271.1", "UniProtKB:P51812", "PR:P51812", "ENSEMBL:ENSP00000368884", "ENSEMBL:ENSP00000368884.3", "UMLS:C2002841"], "information_content": 86.3}
{"id": "MONDO:0010296", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 61", "equivalent_identifiers": ["MONDO:0010296", "DOID:0111999", "OMIM:300310", "UMLS:C1845903", "MESH:C538057", "medgen:337462"], "information_content": 100.0}
{"id": "NCBIGene:55003", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAK1IP1", "equivalent_identifiers": ["NCBIGene:55003", "ENSEMBL:ENSG00000111845", "HGNC:20882", "OMIM:607811", "UMLS:C1427187", "UniProtKB:A0A0S2Z5C3", "UMLS:C1432176", "MESH:C430457", "UniProtKB:Q9NWT1", "PR:Q9NWT1", "ENSEMBL:ENSP00000368887", "ENSEMBL:ENSP00000368887.3", "ENSEMBL:ENSP00000496482", "ENSEMBL:ENSP00000496482.1"], "information_content": 95.4}
{"id": "MONDO:0010361", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 30", "equivalent_identifiers": ["MONDO:0010361", "DOID:0112051", "OMIM:300558", "UMLS:C0796237", "MESH:C563146", "medgen:163235"], "information_content": 100.0}
{"id": "NCBIGene:10186", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LHFPL6", "equivalent_identifiers": ["NCBIGene:10186", "ENSEMBL:ENSG00000183722", "HGNC:6586", "OMIM:606710", "UMLS:C1416844", "UniProtKB:Q9Y693", "PR:Q9Y693", "ENSEMBL:ENSP00000368908", "ENSEMBL:ENSP00000368908.3", "ENSEMBL:ENSP00000496801", "ENSEMBL:ENSP00000496801.1", "UMLS:C3463850", "UMLS:C3493702", "MESH:C574052"], "information_content": 95.4}
{"id": "NCBIGene:1964", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF1AX", "equivalent_identifiers": ["NCBIGene:1964", "ENSEMBL:ENSG00000173674", "HGNC:3250", "OMIM:300186", "UMLS:C1539339", "UniProtKB:P47813", "PR:P47813", "ENSEMBL:ENSP00000368927", "ENSEMBL:ENSP00000368927.5", "UMLS:C1611071"], "information_content": 90.9}
{"id": "UniProtKB:Q8NEF3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 112 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEF3-2", "PR:Q8NEF3-2", "ENSEMBL:ENSP00000368931", "ENSEMBL:ENSP00000368931.5"], "information_content": 100.0}
{"id": "MONDO:0007193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary biliary cholangitis 1", "equivalent_identifiers": ["MONDO:0007193", "DOID:0070358", "OMIM:109720", "UMLS:C4551595", "medgen:1642459"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAV4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stomatin-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAV4-1", "PR:Q8TAV4-1", "ENSEMBL:ENSP00000368952", "ENSEMBL:ENSP00000368952.4"], "information_content": 100.0}
{"id": "UniProtKB:Q00765-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor expression-enhancing protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q00765-1", "PR:Q00765-1", "ENSEMBL:ENSP00000368959", "ENSEMBL:ENSP00000368959.4"], "information_content": 100.0}
{"id": "UniProtKB:Q68CP4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heparan-alpha-glucosaminide N-acetyltransferase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q68CP4-2", "PR:Q68CP4-2", "ENSEMBL:ENSP00000368965", "ENSEMBL:ENSP00000368965.4"], "information_content": 100.0}
{"id": "UniProtKB:Q13507-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "short transient receptor potential channel 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13507-2", "PR:Q13507-2", "ENSEMBL:ENSP00000368966", "ENSEMBL:ENSP00000368966.3"], "information_content": 100.0}
{"id": "UniProtKB:P61960-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-fold modifier 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P61960-2", "PR:P61960-2", "ENSEMBL:ENSP00000368970", "ENSEMBL:ENSP00000368970.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H1N7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenosine 3'-phospho 5'-phosphosulfate transporter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1N7-1", "PR:Q9H1N7-1", "ENSEMBL:ENSP00000368981", "ENSEMBL:ENSP00000368981.4", "ENSEMBL:ENSP00000496368", "ENSEMBL:ENSP00000496368.1"], "information_content": 100.0}
{"id": "NCBIGene:10300", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KATNB1", "equivalent_identifiers": ["NCBIGene:10300", "ENSEMBL:ENSG00000140854", "HGNC:6217", "OMIM:602703", "UMLS:C1416542", "UniProtKB:Q9BVA0", "PR:Q9BVA0", "ENSEMBL:ENSP00000368982", "ENSEMBL:ENSP00000368982.3", "UMLS:C4507420", "MESH:C000620002"], "information_content": 100.0}
{"id": "UniProtKB:Q06265-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exosome complex component RRP45 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q06265-2", "PR:Q06265-2", "ENSEMBL:ENSP00000368984", "ENSEMBL:ENSP00000368984.3"], "information_content": 100.0}
{"id": "MONDO:0019622", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-specific interstitial pneumonia", "equivalent_identifiers": ["MONDO:0019622", "DOID:2801", "orphanet:91364", "UMLS:C1290344", "MEDDRA:10089302", "NCIT:C35717", "SNOMEDCT:129452008", "medgen:220936", "HP:0033584"], "information_content": 92.8}
{"id": "NCBIGene:403282", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR6C65", "equivalent_identifiers": ["NCBIGene:403282", "ENSEMBL:ENSG00000205328", "HGNC:31295", "UMLS:C1429151", "UniProtKB:A0A126GW71", "UniProtKB:A6NJZ3", "PR:A6NJZ3", "ENSEMBL:ENSP00000368986", "ENSEMBL:ENSP00000368986.2"], "information_content": 95.4}
{"id": "UniProtKB:Q17R89-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 44 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q17R89-1", "PR:Q17R89-1", "ENSEMBL:ENSP00000368994", "ENSEMBL:ENSP00000368994.5"], "information_content": 100.0}
{"id": "NCBIGene:79625", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDNF", "equivalent_identifiers": ["NCBIGene:79625", "ENSEMBL:ENSG00000173376", "HGNC:26256", "OMIM:616506", "UMLS:C3472710", "UniProtKB:Q8TB73", "PR:Q8TB73", "ENSEMBL:ENSP00000369014", "ENSEMBL:ENSP00000369014.4", "UMLS:C5433538", "MESH:C000710974"], "information_content": 95.4}
{"id": "UniProtKB:P51460-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "insulin-like 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51460-2", "PR:P51460-2", "ENSEMBL:ENSP00000369017", "ENSEMBL:ENSP00000369017.4"], "information_content": 100.0}
{"id": "UniProtKB:O43324-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation elongation factor 1 epsilon-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43324-1", "PR:O43324-1", "ENSEMBL:ENSP00000369038", "ENSEMBL:ENSP00000369038.5"], "information_content": 100.0}
{"id": "NCBIGene:10527", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IPO7", "equivalent_identifiers": ["NCBIGene:10527", "ENSEMBL:ENSG00000205339", "HGNC:9852", "OMIM:605586", "UMLS:C1419263", "UniProtKB:B3KNG9", "UMLS:C1144340", "MESH:C466996", "UniProtKB:O95373", "PR:O95373", "ENSEMBL:ENSP00000369042", "ENSEMBL:ENSP00000369042.3"], "information_content": 88.2}
{"id": "NCBIGene:27290", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPINK4", "equivalent_identifiers": ["NCBIGene:27290", "ENSEMBL:ENSG00000122711", "HGNC:16646", "OMIM:613929", "UMLS:C1424462", "UniProtKB:O60575", "PR:O60575", "ENSEMBL:ENSP00000369045", "ENSEMBL:ENSP00000369045.3", "UMLS:C3490532", "MESH:C570451", "UniProtKB:V9HWG8"], "information_content": 90.9}
{"id": "UniProtKB:P15291-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-1,4-galactosyltransferase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P15291-1", "PR:P15291-1", "ENSEMBL:ENSP00000369055", "ENSEMBL:ENSP00000369055.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15063-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "periostin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15063-1", "PR:Q15063-1", "ENSEMBL:ENSP00000369071", "ENSEMBL:ENSP00000369071.4"], "information_content": 100.0}
{"id": "NCBIGene:1059", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CENPB", "equivalent_identifiers": ["NCBIGene:1059", "ENSEMBL:ENSG00000125817", "HGNC:1852", "OMIM:117140", "UMLS:C1413339", "UniProtKB:P07199", "PR:P07199", "ENSEMBL:ENSP00000369075", "ENSEMBL:ENSP00000369075.4", "UMLS:C1505574", "MESH:C497926"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y4P9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sperm flagellar protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4P9-1", "PR:Q9Y4P9-1", "ENSEMBL:ENSP00000369080", "ENSEMBL:ENSP00000369080.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBS9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin domain-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBS9-1", "PR:Q8NBS9-1", "ENSEMBL:ENSP00000369081", "ENSEMBL:ENSP00000369081.4"], "information_content": 100.0}
{"id": "UniProtKB:Q3LIE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "manganese-dependent ADP-ribose/CDP-alcohol diphosphatase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3LIE5-1", "PR:Q3LIE5-1", "ENSEMBL:ENSP00000369099", "ENSEMBL:ENSP00000369099.4"], "information_content": 100.0}
{"id": "MONDO:0009294", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease VI", "equivalent_identifiers": ["MONDO:0009294", "DOID:2754", "OMIM:232700", "orphanet:369", "UMLS:C0017925", "MESH:D006013", "MEDDRA:10053240", "MEDDRA:10053251", "MEDDRA:10053254", "MEDDRA:10089392", "NCIT:C126875", "SNOMEDCT:29291001", "medgen:6643"], "information_content": 100.0}
{"id": "UniProtKB:P31689-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily A member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P31689-1", "PR:P31689-1", "ENSEMBL:ENSP00000369127", "ENSEMBL:ENSP00000369127.3"], "information_content": 100.0}
{"id": "UniProtKB:P15924-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "desmoplakin isoform DPI (human)", "equivalent_identifiers": ["UniProtKB:P15924-1", "PR:P15924-1", "ENSEMBL:ENSP00000369129", "ENSEMBL:ENSP00000369129.3"], "information_content": 100.0}
{"id": "UniProtKB:O75182-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paired amphipathic helix protein Sin3b isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75182-1", "PR:O75182-1", "ENSEMBL:ENSP00000369131", "ENSEMBL:ENSP00000369131.1"], "information_content": 100.0}
{"id": "UniProtKB:P13640-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metallothionein-1G isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13640-1", "PR:P13640-1", "ENSEMBL:ENSP00000369139", "ENSEMBL:ENSP00000369139.4"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z2E3-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aprataxin isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2E3-7", "PR:Q7Z2E3-7", "ENSEMBL:ENSP00000369145", "ENSEMBL:ENSP00000369145.2", "ENSEMBL:ENSP00000369147", "ENSEMBL:ENSP00000369147.2", "ENSEMBL:ENSP00000419846", "ENSEMBL:ENSP00000419846.1"], "information_content": 100.0}
{"id": "NCBIGene:4499", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT1M", "equivalent_identifiers": ["NCBIGene:4499", "ENSEMBL:ENSG00000205364", "HGNC:14296", "OMIM:156357", "UMLS:C1826314", "UniProtKB:Q8N339", "PR:Q8N339", "ENSEMBL:ENSP00000369146", "ENSEMBL:ENSP00000369146.3", "UMLS:C4042475", "MESH:C000595829"], "information_content": 100.0}
{"id": "UniProtKB:O15198-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mothers against decapentaplegic homolog 9 isoform A (human)", "equivalent_identifiers": ["UniProtKB:O15198-1", "PR:O15198-1", "ENSEMBL:ENSP00000369154", "ENSEMBL:ENSP00000369154.4", "ENSEMBL:ENSP00000520435", "ENSEMBL:ENSP00000520435.1"], "information_content": 95.4}
{"id": "NCBIGene:83732", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RIOK1", "equivalent_identifiers": ["NCBIGene:83732", "ENSEMBL:ENSG00000124784", "HGNC:18656", "OMIM:617753", "UMLS:C1425683", "UniProtKB:Q9BRS2", "PR:Q9BRS2", "ENSEMBL:ENSP00000369162", "ENSEMBL:ENSP00000369162.2", "UMLS:C1172728"], "information_content": 95.4}
{"id": "UniProtKB:O95139-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95139-1", "PR:O95139-1", "ENSEMBL:ENSP00000369176", "ENSEMBL:ENSP00000369176.3"], "information_content": 100.0}
{"id": "NCBIGene:29959", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NRBP1", "equivalent_identifiers": ["NCBIGene:29959", "ENSEMBL:ENSG00000115216", "HGNC:7993", "OMIM:606010", "UMLS:C1709139", "UniProtKB:F8W6G1", "ENSEMBL:ENSP00000369192", "ENSEMBL:ENSP00000369192.3", "UniProtKB:Q9UHY1", "PR:Q9UHY1", "ENSEMBL:ENSP00000233557", "ENSEMBL:ENSP00000233557.3", "ENSEMBL:ENSP00000369181", "ENSEMBL:ENSP00000369181.3", "UMLS:C1144459", "MESH:C410809"]}
{"id": "UniProtKB:Q8IZP9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G-protein coupled receptor G2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZP9-1", "PR:Q8IZP9-1", "ENSEMBL:ENSP00000369198", "ENSEMBL:ENSP00000369198.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NX45-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NX45-1", "PR:Q9NX45-1", "ENSEMBL:ENSP00000369210", "ENSEMBL:ENSP00000369210.3"], "information_content": 100.0}
{"id": "UniProtKB:O95786-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "antiviral innate immune response receptor RIG-I isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95786-1", "PR:O95786-1", "ENSEMBL:ENSP00000369213", "ENSEMBL:ENSP00000369213.2"], "information_content": 100.0}
{"id": "NCBIGene:25820", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARIH1", "equivalent_identifiers": ["NCBIGene:25820", "ENSEMBL:ENSG00000166233", "HGNC:689", "OMIM:605624", "UMLS:C1412533", "UniProtKB:Q9Y4X5", "PR:Q9Y4X5", "ENSEMBL:ENSP00000369217", "ENSEMBL:ENSP00000369217.4", "UMLS:C0893615", "UMLS:C4522226", "MESH:C419193"], "information_content": 100.0}
{"id": "NCBIGene:203102", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAM32", "equivalent_identifiers": ["NCBIGene:203102", "ENSEMBL:ENSG00000197140", "HGNC:15479", "OMIM:618602", "UMLS:C1423518", "UniProtKB:A0A140VJD9", "UMLS:C1175480", "MESH:C472808", "UniProtKB:B4DTC2", "ENSEMBL:ENSP00000488417", "ENSEMBL:ENSP00000488417.1", "UniProtKB:Q8TC27", "PR:Q8TC27", "ENSEMBL:ENSP00000369238", "ENSEMBL:ENSP00000369238.4", "ENSEMBL:ENSP00000484817", "ENSEMBL:ENSP00000484817.1"], "information_content": 100.0}
{"id": "MONDO:0011821", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel syndrome, type 3", "equivalent_identifiers": ["MONDO:0011821", "DOID:0070117", "OMIM:607361", "UMLS:C1846357", "MESH:C536132", "medgen:335402"], "information_content": 100.0}
{"id": "NCBIGene:4081", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAB21L1", "equivalent_identifiers": ["NCBIGene:4081", "ENSEMBL:ENSG00000180660", "HGNC:6757", "OMIM:601280", "UMLS:C1416954", "UniProtKB:B2R805", "UMLS:C1307792", "MESH:C499231", "UniProtKB:F1T0A2", "UniProtKB:Q13394", "PR:Q13394", "ENSEMBL:ENSP00000369251", "ENSEMBL:ENSP00000369251.4", "ENSEMBL:ENSP00000516753", "ENSEMBL:ENSP00000516753.1"], "information_content": 95.4}
{"id": "UniProtKB:Q8IV77-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic nucleotide-gated channel alpha-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IV77-1", "PR:Q8IV77-1", "ENSEMBL:ENSP00000369268", "ENSEMBL:ENSP00000369268.2"], "information_content": 100.0}
{"id": "UniProtKB:Q92766-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-responsive element-binding protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92766-2", "PR:Q92766-2", "ENSEMBL:ENSP00000369270", "ENSEMBL:ENSP00000369270.2"], "information_content": 100.0}
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{"id": "NCBIGene:9450", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LY86", "equivalent_identifiers": ["NCBIGene:9450", "ENSEMBL:ENSG00000112799", "HGNC:16837", "OMIM:605241", "UMLS:C1424584", "UniProtKB:O95711", "PR:O95711", "ENSEMBL:ENSP00000230568", "ENSEMBL:ENSP00000230568.3", "ENSEMBL:ENSP00000369286", "ENSEMBL:ENSP00000369286.1", "UMLS:C0759058", "MESH:C115213"], "information_content": 92.8}
{"id": "UniProtKB:Q2VYF4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LETM1 domain-containing protein LETM2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2VYF4-1", "PR:Q2VYF4-1", "ENSEMBL:ENSP00000369291", "ENSEMBL:ENSP00000369291.4"], "information_content": 100.0}
{"id": "NCBIGene:54809", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAMD9", "equivalent_identifiers": ["NCBIGene:54809", "ENSEMBL:ENSG00000205413", "HGNC:1348", "OMIM:610456", "UMLS:C1539722", "UniProtKB:Q5K651", "PR:Q5K651", "ENSEMBL:ENSP00000369292", "ENSEMBL:ENSP00000369292.2", "ENSEMBL:ENSP00000484636", "ENSEMBL:ENSP00000484636.1", "UMLS:C1738791", "MESH:C514443"], "information_content": 88.2}
{"id": "NCBIGene:3559", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL2RA", "equivalent_identifiers": ["NCBIGene:3559", "ENSEMBL:ENSG00000134460", "HGNC:6008", "OMIM:147730", "UMLS:C1334114", "UniProtKB:H0Y5Z0", "ENSEMBL:ENSP00000402024", "ENSEMBL:ENSP00000402024.2", "UniProtKB:P01589", "PR:P01589", "ENSEMBL:ENSP00000369293", "ENSEMBL:ENSP00000369293.3", "UMLS:C1700887", "MESH:C508017", "UniProtKB:Q5W005", "ENSEMBL:ENSP00000369287", "ENSEMBL:ENSP00000369287.1"], "information_content": 87.2}
{"id": "UniProtKB:Q8IYM9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYM9-1", "PR:Q8IYM9-1", "ENSEMBL:ENSP00000369299", "ENSEMBL:ENSP00000369299.3"], "information_content": 100.0}
{"id": "MONDO:0010385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked lymphoproliferative disease due to XIAP deficiency", "equivalent_identifiers": ["MONDO:0010385", "DOID:0060706", "OMIM:300635", "orphanet:538934", "UMLS:C1845076", "MESH:C564469", "NCIT:C126295", "SNOMEDCT:1162830004", "medgen:336848"], "information_content": 100.0}
{"id": "NCBIGene:2745", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLRX", "equivalent_identifiers": ["NCBIGene:2745", "ENSEMBL:ENSG00000173221", "HGNC:4330", "OMIM:600443", "UMLS:C1415111", "UniProtKB:P35754", "PR:P35754", "ENSEMBL:ENSP00000237858", "ENSEMBL:ENSP00000237858.6", "ENSEMBL:ENSP00000369314", "ENSEMBL:ENSP00000369314.4", "ENSEMBL:ENSP00000422708", "ENSEMBL:ENSP00000422708.1", "ENSEMBL:ENSP00000424636", "ENSEMBL:ENSP00000424636.2", "ENSEMBL:ENSP00000427353", "ENSEMBL:ENSP00000427353.1", "UMLS:C1870389", "MESH:C516005"], "information_content": 85.5}
{"id": "NCBIGene:3853", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT6A", "equivalent_identifiers": ["NCBIGene:3853", "ENSEMBL:ENSG00000205420", "HGNC:6443", "OMIM:148041", "UMLS:C1416743", "UniProtKB:A0A0S2Z428", "UniProtKB:P02538", "PR:P02538", "ENSEMBL:ENSP00000369317", "ENSEMBL:ENSP00000369317.3", "UMLS:C1678157", "MESH:C507569"], "information_content": 92.8}
{"id": "NCBIGene:22836", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHOBTB3", "equivalent_identifiers": ["NCBIGene:22836", "ENSEMBL:ENSG00000164292", "HGNC:18757", "OMIM:607353", "UMLS:C1425763", "UniProtKB:O94955", "PR:O94955", "ENSEMBL:ENSP00000369318", "ENSEMBL:ENSP00000369318.3"], "information_content": 87.2}
{"id": "NCBIGene:6247", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RS1", "equivalent_identifiers": ["NCBIGene:6247", "ENSEMBL:ENSG00000102104", "HGNC:10457", "OMIM:300839", "UMLS:C1419764", "UniProtKB:O15537", "PR:O15537", "ENSEMBL:ENSP00000369320", "ENSEMBL:ENSP00000369320.3", "UMLS:C0667084", "MESH:C108726"], "information_content": 95.4}
{"id": "UniProtKB:O76039-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase-like 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O76039-1", "PR:O76039-1", "ENSEMBL:ENSP00000369325", "ENSEMBL:ENSP00000369325.3", "ENSEMBL:ENSP00000369332", "ENSEMBL:ENSP00000369332.3"], "information_content": 100.0}
{"id": "NCBIGene:158038", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LINGO2", "equivalent_identifiers": ["NCBIGene:158038", "ENSEMBL:ENSG00000174482", "HGNC:21207", "OMIM:609793", "UMLS:C1427414", "UniProtKB:Q7L985", "PR:Q7L985", "ENSEMBL:ENSP00000369328", "ENSEMBL:ENSP00000369328.1", "ENSEMBL:ENSP00000513694", "ENSEMBL:ENSP00000513694.1", "ENSEMBL:ENSP00000513695", "ENSEMBL:ENSP00000513695.1", "ENSEMBL:ENSP00000513696", "ENSEMBL:ENSP00000513696.1", "ENSEMBL:ENSP00000513697", "ENSEMBL:ENSP00000513697.1", "ENSEMBL:ENSP00000513698", "ENSEMBL:ENSP00000513698.1", "UMLS:C5197226", "MESH:C000631478"], "information_content": 95.4}
{"id": "UniProtKB:Q8NFZ0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box DNA helicase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFZ0-2", "PR:Q8NFZ0-2", "ENSEMBL:ENSP00000369335", "ENSEMBL:ENSP00000369335.5"], "information_content": 100.0}
{"id": "NCBIGene:153642", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARSK", "equivalent_identifiers": ["NCBIGene:153642", "ENSEMBL:ENSG00000164291", "HGNC:25239", "OMIM:610011", "UMLS:C1825086", "UniProtKB:Q6UWY0", "PR:Q6UWY0", "ENSEMBL:ENSP00000369346", "ENSEMBL:ENSP00000369346.4", "UMLS:C1722661", "MESH:C511172"], "information_content": 95.4}
{"id": "NCBIGene:3887", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT81", "equivalent_identifiers": ["NCBIGene:3887", "ENSEMBL:ENSG00000205426", "HGNC:6458", "OMIM:602153", "UMLS:C1825768", "UniProtKB:Q14533", "PR:Q14533", "ENSEMBL:ENSP00000369349", "ENSEMBL:ENSP00000369349.4", "UMLS:C1687190", "MESH:C507600"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ60-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "equatorin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ60-1", "PR:Q9NQ60-1", "ENSEMBL:ENSP00000369371", "ENSEMBL:ENSP00000369371.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDZ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BEN domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDZ0-1", "PR:Q8NDZ0-1", "ENSEMBL:ENSP00000369372", "ENSEMBL:ENSP00000369372.4"], "information_content": 100.0}
{"id": "MONDO:0016707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "astroblastoma", "equivalent_identifiers": ["MONDO:0016707", "DOID:7305", "orphanet:251679", "UMLS:C0334587", "MEDDRA:10079366", "NCIT:C4324", "SNOMEDCT:48952003", "medgen:90811", "icd11.foundation:2011571705", "icd11.foundation:96344074"], "information_content": 88.2}
{"id": "MONDO:0003000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central nervous system germ cell tumor", "equivalent_identifiers": ["MONDO:0003000", "DOID:4439", "UMLS:C1332880", "NCIT:C5461", "medgen:232040"], "information_content": 73.1}
{"id": "MONDO:0850312", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anaplastic pleomorphic xanthoastrocytoma", "equivalent_identifiers": ["MONDO:0850312", "DOID:0080854", "UMLS:C4283858", "MEDDRA:10085350", "NCIT:C129327", "SNOMEDCT:733848006", "medgen:924393"], "information_content": 92.8}
{"id": "MONDO:0957197", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diffuse glioma, H3 G34 mutant", "equivalent_identifiers": ["MONDO:0957197", "DOID:0080880", "EFO:0021505", "UMLS:C5669880", "MEDDRA:10089838", "NCIT:C185371"], "information_content": 89.4}
{"id": "UniProtKB:Q9C035-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 5 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q9C035-1", "PR:Q9C035-1", "ENSEMBL:ENSP00000369373", "ENSEMBL:ENSP00000369373.3", "ENSEMBL:ENSP00000507420", "ENSEMBL:ENSP00000507420.1"], "information_content": 100.0}
{"id": "UniProtKB:Q02763-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "angiopoietin-1 receptor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q02763-1", "PR:Q02763-1", "ENSEMBL:ENSP00000369375", "ENSEMBL:ENSP00000369375.4"], "information_content": 100.0}
{"id": "NCBIGene:4358", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MPV17", "equivalent_identifiers": ["NCBIGene:4358", "ENSEMBL:ENSG00000115204", "HGNC:7224", "OMIM:137960", "UMLS:C1417247", "UniProtKB:A0A0S2Z3Z9", "UMLS:C2355369", "MESH:C530370", "UniProtKB:P39210", "PR:P39210", "ENSEMBL:ENSP00000233545", "ENSEMBL:ENSP00000233545.2", "ENSEMBL:ENSP00000369383", "ENSEMBL:ENSP00000369383.1"], "information_content": 90.9}
{"id": "UniProtKB:O94921-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 14 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O94921-1", "PR:O94921-1", "ENSEMBL:ENSP00000369390", "ENSEMBL:ENSP00000369390.3"], "information_content": 100.0}
{"id": "UniProtKB:O75818-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribonuclease P protein subunit p40 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75818-1", "PR:O75818-1", "ENSEMBL:ENSP00000369391", "ENSEMBL:ENSP00000369391.2"], "information_content": 100.0}
{"id": "MONDO:0010306", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked intellectual disability, Cabezas type", "equivalent_identifiers": ["MONDO:0010306", "DOID:0060822", "OMIM:300354", "orphanet:85293", "UMLS:C1845861", "MESH:C567069", "NCIT:C167216", "SNOMEDCT:719811001", "medgen:337334"], "information_content": 100.0}
{"id": "NCBIGene:64922", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC19", "equivalent_identifiers": ["NCBIGene:64922", "ENSEMBL:ENSG00000184434", "HGNC:23379", "OMIM:619068", "UMLS:C1428058", "UniProtKB:Q9H756", "PR:Q9H756", "ENSEMBL:ENSP00000369395", "ENSEMBL:ENSP00000369395.5", "UMLS:C2743573", "UMLS:C3539850", "MESH:C544174"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBS3-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 4 member 11 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBS3-4", "PR:Q8NBS3-4", "ENSEMBL:ENSP00000369399", "ENSEMBL:ENSP00000369399.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6T4R5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin remodeling regulator NHS isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6T4R5-2", "PR:Q6T4R5-2", "ENSEMBL:ENSP00000369400", "ENSEMBL:ENSP00000369400.3"], "information_content": 100.0}
{"id": "MONDO:0007555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolysis bullosa simplex 5A, Ogna type", "equivalent_identifiers": ["MONDO:0007555", "DOID:0060736", "OMIM:131950", "orphanet:79401", "UMLS:C0432317", "MESH:C535962", "SNOMEDCT:398071000", "medgen:98488"], "information_content": 100.0}
{"id": "MONDO:0009179", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "recessive dystrophic epidermolysis bullosa", "equivalent_identifiers": ["MONDO:0009179", "DOID:0060642", "OMIM:226600", "orphanet:79408", "UMLS:C0079474", "UMLS:C2673611", "UMLS:C2673612", "MESH:C567121", "MESH:C567122", "MEDDRA:10087380", "NCIT:C156446", "SNOMEDCT:48528004", "medgen:36311", "ICD10:Q81.2"], "information_content": 95.4}
{"id": "MONDO:0007093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism", "equivalent_identifiers": ["MONDO:0007093", "DOID:0110053", "OMIM:104510", "orphanet:100034", "UMLS:C1863012", "MESH:C566293", "medgen:350816"], "information_content": 100.0}
{"id": "NCBIGene:91828", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXOC3L4", "equivalent_identifiers": ["NCBIGene:91828", "ENSEMBL:ENSG00000205436", "HGNC:20120", "OMIM:621085", "UMLS:C3147240", "UniProtKB:Q17RC7", "PR:Q17RC7", "ENSEMBL:ENSP00000369409", "ENSEMBL:ENSP00000369409.3", "ENSEMBL:ENSP00000508483", "ENSEMBL:ENSP00000508483.1", "ENSEMBL:ENSP00000509130", "ENSEMBL:ENSP00000509130.1"], "information_content": 100.0}
{"id": "UniProtKB:P40938-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "replication factor C subunit 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P40938-1", "PR:P40938-1", "ENSEMBL:ENSP00000369411", "ENSEMBL:ENSP00000369411.3"], "information_content": 100.0}
{"id": "UniProtKB:Q687X5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metalloreductase STEAP4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q687X5-1", "PR:Q687X5-1", "ENSEMBL:ENSP00000369419", "ENSEMBL:ENSP00000369419.4"], "information_content": 100.0}
{"id": "UniProtKB:Q16576-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-binding protein RBBP7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16576-2", "PR:Q16576-2", "ENSEMBL:ENSP00000369424", "ENSEMBL:ENSP00000369424.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H8G2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase activity and apoptosis inhibitor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8G2-1", "PR:Q9H8G2-1", "ENSEMBL:ENSP00000369431", "ENSEMBL:ENSP00000369431.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6P6B7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 16 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P6B7-1", "PR:Q6P6B7-1", "ENSEMBL:ENSP00000369434", "ENSEMBL:ENSP00000369434.4", "ENSEMBL:ENSP00000369436", "ENSEMBL:ENSP00000369436.4"], "information_content": 100.0}
{"id": "MONDO:0003652", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute urate nephropathy", "equivalent_identifiers": ["MONDO:0003652", "DOID:580", "UMLS:C0341712", "UMLS:C0403719", "MEDDRA:10046503", "NCIT:C123037", "NCIT:C123245", "SNOMEDCT:236496000", "SNOMEDCT:267441009", "medgen:574593", "icd11.foundation:1011901523", "ICD9:274.11", "HP:0000791"], "information_content": 95.4}
{"id": "MONDO:0012986", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bilateral parasagittal parieto-occipital polymicrogyria", "equivalent_identifiers": ["MONDO:0012986", "DOID:0080923", "OMIM:612691", "orphanet:208441", "UMLS:C2675191", "UMLS:C4013648", "MESH:C567201", "medgen:862085", "icd11.foundation:293410499"], "information_content": 100.0}
{"id": "MONDO:0014711", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant Charcot-Marie-Tooth disease type 2W", "equivalent_identifiers": ["MONDO:0014711", "DOID:0110162", "OMIM:616625", "orphanet:488333", "UMLS:C5567486", "SNOMEDCT:1172634009", "medgen:1798909"], "information_content": 100.0}
{"id": "MONDO:0014566", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2U", "equivalent_identifiers": ["MONDO:0014566", "DOID:0110173", "OMIM:616280", "orphanet:397735", "UMLS:C4084821", "SNOMEDCT:765046002", "medgen:906504"], "information_content": 100.0}
{"id": "MONDO:0013805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 13", "equivalent_identifiers": ["MONDO:0013805", "DOID:0061144", "DOID:0070043", "OMIM:614563", "UMLS:C3281202", "medgen:482832"], "information_content": 100.0}
{"id": "MONDO:0013634", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary sensory, type 2C", "equivalent_identifiers": ["MONDO:0013634", "DOID:0070147", "OMIM:614213", "UMLS:C3280168", "medgen:481798"], "information_content": 100.0}
{"id": "UniProtKB:Q9C030-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9C030-2", "PR:Q9C030-2", "ENSEMBL:ENSP00000369440", "ENSEMBL:ENSP00000369440.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UEF7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "klotho isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UEF7-1", "PR:Q9UEF7-1", "ENSEMBL:ENSP00000369442", "ENSEMBL:ENSP00000369442.3"], "information_content": 95.4}
{"id": "NCBIGene:1993", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELAVL2", "equivalent_identifiers": ["NCBIGene:1993", "ENSEMBL:ENSG00000107105", "HGNC:3313", "OMIM:601673", "UMLS:C1414372", "UniProtKB:A0A0A0MRX1", "ENSEMBL:ENSP00000369453", "ENSEMBL:ENSP00000369453.4", "UMLS:C1447270", "MESH:C086811", "UniProtKB:Q12926", "PR:Q12926"]}
{"id": "UniProtKB:Q9BY32-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inosine triphosphate pyrophosphatase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY32-1", "PR:Q9BY32-1", "ENSEMBL:ENSP00000369456", "ENSEMBL:ENSP00000369456.3"], "information_content": 100.0}
{"id": "UniProtKB:O75521-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "enoyl-CoA Delta isomerase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75521-1", "PR:O75521-1", "ENSEMBL:ENSP00000369461", "ENSEMBL:ENSP00000369461.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUQ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-taxilin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUQ3-1", "PR:Q9NUQ3-1", "ENSEMBL:ENSP00000369465", "ENSEMBL:ENSP00000369465.5"], "information_content": 100.0}
{"id": "MONDO:0016390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypoparathyroidism", "equivalent_identifiers": ["MONDO:0016390", "DOID:0111387", "OMIM.PS:146200", "orphanet:2238", "UMLS:C1832648", "MESH:C537156", "MEDDRA:10090580", "SNOMEDCT:725036000", "medgen:322005", "icd11.foundation:1907423603"], "information_content": 86.3}
{"id": "NCBIGene:675", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BRCA2", "equivalent_identifiers": ["NCBIGene:675", "ENSEMBL:ENSG00000139618", "HGNC:1101", "OMIM:600185", "UMLS:C0598034", "UniProtKB:A0A7P0T9D7", "UniProtKB:A0A8V8TPZ2", "ENSEMBL:ENSP00000514856", "ENSEMBL:ENSP00000514856.2", "UniProtKB:P51587", "PR:P51587", "ENSEMBL:ENSP00000369497", "ENSEMBL:ENSP00000369497.3", "ENSEMBL:ENSP00000439902", "ENSEMBL:ENSP00000439902.1", "ENSEMBL:ENSP00000505508", "ENSEMBL:ENSP00000505508.1", "UMLS:C2973986", "MESH:C551750"], "information_content": 65.1}
{"id": "NCBIGene:94056", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYAP1", "equivalent_identifiers": ["NCBIGene:94056", "ENSEMBL:ENSG00000169895", "HGNC:16273", "UMLS:C1424143", "UniProtKB:Q96A49", "PR:Q96A49", "ENSEMBL:ENSP00000369500", "ENSEMBL:ENSP00000369500.3"], "information_content": 92.8}
{"id": "UniProtKB:O15296-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyunsaturated fatty acid lipoxygenase ALOX15B isoform A (human)", "equivalent_identifiers": ["UniProtKB:O15296-1", "PR:O15296-1", "ENSEMBL:ENSP00000369530", "ENSEMBL:ENSP00000369530.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYU4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquilin-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYU4-1", "PR:Q8IYU4-1", "ENSEMBL:ENSP00000369531", "ENSEMBL:ENSP00000369531.1"], "information_content": 100.0}
{"id": "MONDO:0010532", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infantile-onset X-linked spinal muscular atrophy", "equivalent_identifiers": ["MONDO:0010532", "DOID:0111827", "OMIM:301830", "orphanet:1145", "UMLS:C1844934", "MESH:C535380", "SNOMEDCT:719836007", "medgen:337123"], "information_content": 100.0}
{"id": "UniProtKB:P50395-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab GDP dissociation inhibitor beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50395-1", "PR:P50395-1", "ENSEMBL:ENSP00000369538", "ENSEMBL:ENSP00000369538.4"], "information_content": 100.0}
{"id": "NCBIGene:795", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100G", "equivalent_identifiers": ["NCBIGene:795", "ENSEMBL:ENSG00000169906", "HGNC:1436", "OMIM:302020", "UMLS:C1539718", "UniProtKB:P29377", "PR:P29377", "ENSEMBL:ENSP00000369547", "ENSEMBL:ENSP00000369547.3", "UMLS:C3711741", "MESH:C576506"], "information_content": 95.4}
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{"id": "NCBIGene:3440", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFNA2", "equivalent_identifiers": ["NCBIGene:3440", "ENSEMBL:ENSG00000188379", "HGNC:5423", "OMIM:147562", "UMLS:C1334080", "UniProtKB:P01563", "PR:P01563", "ENSEMBL:ENSP00000369554", "ENSEMBL:ENSP00000369554.2", "UMLS:C0535872", "MESH:C554158"], "information_content": 89.4}
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{"id": "NCBIGene:51806", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CALML5", "equivalent_identifiers": ["NCBIGene:51806", "ENSEMBL:ENSG00000178372", "HGNC:18180", "OMIM:605183", "UMLS:C1425365", "UniProtKB:Q53H37", "UMLS:C1449382", "MESH:C408467", "UniProtKB:Q9NZT1", "PR:Q9NZT1", "ENSEMBL:ENSP00000369689", "ENSEMBL:ENSP00000369689.3"], "information_content": 92.8}
{"id": "UniProtKB:P42568-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein AF-9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P42568-1", "PR:P42568-1", "ENSEMBL:ENSP00000369695", "ENSEMBL:ENSP00000369695.4"], "information_content": 100.0}
{"id": "MONDO:0001606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central nervous system leukemia", "equivalent_identifiers": ["MONDO:0001606", "DOID:12969", "UMLS:C1332884", "MEDDRA:10066231", "MEDDRA:10067299", "NCIT:C5440", "medgen:234102"], "information_content": 92.8}
{"id": "NCBIGene:57393", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLTRN", "equivalent_identifiers": ["NCBIGene:57393", "ENSEMBL:ENSG00000147003", "HGNC:29437", "OMIM:300631", "UMLS:C1539996", "UniProtKB:A0A3B3ITM8", "ENSEMBL:ENSP00000497814", "ENSEMBL:ENSP00000497814.1", "UMLS:C1609652", "MESH:C429534", "UniProtKB:Q9HBJ8", "PR:Q9HBJ8", "ENSEMBL:ENSP00000369699", "ENSEMBL:ENSP00000369699.3"], "information_content": 92.8}
{"id": "NCBIGene:10184", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LHFPL2", "equivalent_identifiers": ["NCBIGene:10184", "ENSEMBL:ENSG00000145685", "HGNC:6588", "OMIM:609718", "UMLS:C1416846", "UniProtKB:Q6ZUX7", "PR:Q6ZUX7", "ENSEMBL:ENSP00000369702", "ENSEMBL:ENSP00000369702.2", "ENSEMBL:ENSP00000425906", "ENSEMBL:ENSP00000425906.1", "UMLS:C4547920", "MESH:C000622016"], "information_content": 100.0}
{"id": "NCBIGene:7280", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBB2A", "equivalent_identifiers": ["NCBIGene:7280", "ENSEMBL:ENSG00000137267", "HGNC:12412", "OMIM:615101", "UMLS:C1823552", "UniProtKB:Q13885", "PR:Q13885", "ENSEMBL:ENSP00000369703", "ENSEMBL:ENSP00000369703.2", "UMLS:C4548654", "MESH:C000625781"], "information_content": 89.4}
{"id": "UniProtKB:Q12873-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromodomain-helicase-DNA-binding protein 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q12873-3", "PR:Q12873-3", "ENSEMBL:ENSP00000369716", "ENSEMBL:ENSP00000369716.4"], "information_content": 100.0}
{"id": "NCBIGene:23538", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52A1", "equivalent_identifiers": ["NCBIGene:23538", "ENSEMBL:ENSG00000182070", "HGNC:8318", "UMLS:C1418078", "UniProtKB:Q9UKL2", "PR:Q9UKL2", "ENSEMBL:ENSP00000369725", "ENSEMBL:ENSP00000369725.1", "UMLS:C1309270", "MESH:C122168"], "information_content": 100.0}
{"id": "NCBIGene:119679", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52J3", "equivalent_identifiers": ["NCBIGene:119679", "ENSEMBL:ENSG00000205495", "HGNC:14799", "UMLS:C1422946", "UniProtKB:Q8NH60", "PR:Q8NH60", "ENSEMBL:ENSP00000369728", "ENSEMBL:ENSP00000369728.1", "ENSEMBL:ENSP00000517537", "ENSEMBL:ENSP00000517537.1"], "information_content": 100.0}
{"id": "NCBIGene:401667", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR51A2", "equivalent_identifiers": ["NCBIGene:401667", "ENSEMBL:ENSG00000205496", "HGNC:14764", "UMLS:C1422914", "UniProtKB:A0A126GWD5", "UniProtKB:Q8NGJ7", "PR:Q8NGJ7", "ENSEMBL:ENSP00000369729", "ENSEMBL:ENSP00000369729.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86WA6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "valacyclovir hydrolase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WA6-1", "PR:Q86WA6-1", "ENSEMBL:ENSP00000369739", "ENSEMBL:ENSP00000369739.5"], "information_content": 100.0}
{"id": "MONDO:0011840", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1M", "equivalent_identifiers": ["MONDO:0011840", "DOID:0110449", "OMIM:607482", "UMLS:C1843808", "MESH:C564390", "medgen:334498"], "information_content": 100.0}
{"id": "MONDO:0012362", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1P", "equivalent_identifiers": ["MONDO:0012362", "DOID:0110439", "OMIM:609909", "UMLS:C1835928", "MESH:C563690", "NCIT:C173625", "medgen:322782"], "information_content": 100.0}
{"id": "MONDO:0013369", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 7", "equivalent_identifiers": ["MONDO:0013369", "DOID:0110313", "OMIM:613690", "UMLS:C1860752", "NCIT:C184989", "medgen:348695"], "information_content": 100.0}
{"id": "NCBIGene:56547", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMP26", "equivalent_identifiers": ["NCBIGene:56547", "ENSEMBL:ENSG00000167346", "HGNC:14249", "OMIM:605470", "UMLS:C1422510", "UniProtKB:A0A8J8YUH5", "ENSEMBL:ENSP00000300762", "ENSEMBL:ENSP00000300762.2", "UMLS:C1721294", "MESH:C410599", "UniProtKB:Q9NRE1", "PR:Q9NRE1", "ENSEMBL:ENSP00000369753", "ENSEMBL:ENSP00000369753.1", "ENSEMBL:ENSP00000510347", "ENSEMBL:ENSP00000510347.1"], "information_content": 100.0}
{"id": "NCBIGene:388125", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C2CD4B", "equivalent_identifiers": ["NCBIGene:388125", "ENSEMBL:ENSG00000205502", "HGNC:33628", "OMIM:610344", "UMLS:C1835908", "UniProtKB:A6NLJ0", "PR:A6NLJ0", "ENSEMBL:ENSP00000369755", "ENSEMBL:ENSP00000369755.3", "UMLS:C1530563", "MESH:C494528"], "information_content": 100.0}
{"id": "NCBIGene:6194", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS6", "equivalent_identifiers": ["NCBIGene:6194", "ENSEMBL:ENSG00000137154", "HGNC:10429", "OMIM:180460", "UMLS:C1419741", "UniProtKB:A2A3R6", "UniProtKB:P62753", "PR:P62753", "ENSEMBL:ENSP00000369757", "ENSEMBL:ENSP00000369757.4", "UMLS:C2984184"], "information_content": 86.3}
{"id": "UniProtKB:Q0D2J5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 763 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q0D2J5-2", "PR:Q0D2J5-2", "ENSEMBL:ENSP00000369774", "ENSEMBL:ENSP00000369774.2"], "information_content": 100.0}
{"id": "UniProtKB:A6NHL2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin alpha chain-like 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:A6NHL2-1", "PR:A6NHL2-1", "ENSEMBL:ENSP00000369784", "ENSEMBL:ENSP00000369784.3"], "information_content": 100.0}
{"id": "NCBIGene:8544", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIR", "equivalent_identifiers": ["NCBIGene:8544", "ENSEMBL:ENSG00000087842", "HGNC:30048", "OMIM:300931", "UMLS:C1538650", "UniProtKB:O00625", "PR:O00625", "ENSEMBL:ENSP00000369785", "ENSEMBL:ENSP00000369785.5", "ENSEMBL:ENSP00000369786", "ENSEMBL:ENSP00000369786.3", "UMLS:C0537741", "MESH:C105340"], "information_content": 92.8}
{"id": "MONDO:0001596", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypochondriasis", "equivalent_identifiers": ["MONDO:0001596", "DOID:12883", "UMLS:C0020604", "MESH:D006998", "MEDDRA:10020965", "NCIT:C9493", "SNOMEDCT:18193002", "medgen:9382", "icd11.foundation:675329566", "ICD10:F45.21", "ICD9:300.7"], "information_content": 100.0}
{"id": "NCBIGene:114131", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UCN3", "equivalent_identifiers": ["NCBIGene:114131", "ENSEMBL:ENSG00000178473", "HGNC:17781", "OMIM:605901", "UMLS:C1425074", "UniProtKB:Q969E3", "PR:Q969E3", "ENSEMBL:ENSP00000369798", "ENSEMBL:ENSP00000369798.3", "UMLS:C0966376", "MESH:C426704"], "information_content": 100.0}
{"id": "UniProtKB:Q9H269-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 16 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H269-1", "PR:Q9H269-1", "ENSEMBL:ENSP00000369810", "ENSEMBL:ENSP00000369810.3"], "information_content": 100.0}
{"id": "NCBIGene:1109", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AKR1C4", "equivalent_identifiers": ["NCBIGene:1109", "ENSEMBL:ENSG00000198610", "HGNC:387", "OMIM:600451", "UMLS:C1412327", "UniProtKB:P17516", "PR:P17516", "ENSEMBL:ENSP00000263126", "ENSEMBL:ENSP00000263126.1", "ENSEMBL:ENSP00000369814", "ENSEMBL:ENSP00000369814.1", "UMLS:C1171950"], "information_content": 95.4}
{"id": "MONDO:0013439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bile acid synthesis defect 3", "equivalent_identifiers": ["MONDO:0013439", "DOID:0111070", "OMIM:613812", "orphanet:79302", "UMLS:C3151147", "UMLS:C4304715", "MESH:C566340", "SNOMEDCT:719454003", "medgen:462497"], "information_content": 100.0}
{"id": "UniProtKB:P04278-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sex hormone-binding globulin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P04278-1", "PR:P04278-1", "ENSEMBL:ENSP00000369816", "ENSEMBL:ENSP00000369816.4"], "information_content": 100.0}
{"id": "UniProtKB:P37287-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P37287-1", "PR:P37287-1", "ENSEMBL:ENSP00000369820", "ENSEMBL:ENSP00000369820.3", "ENSEMBL:ENSP00000442653", "ENSEMBL:ENSP00000442653.2"], "information_content": 100.0}
{"id": "NCBIGene:4835", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NQO2", "equivalent_identifiers": ["NCBIGene:4835", "ENSEMBL:ENSG00000124588", "HGNC:7856", "OMIM:160998", "UMLS:C1417745", "UniProtKB:B3KPX6", "UMLS:C2745346", "UniProtKB:P16083", "PR:P16083", "ENSEMBL:ENSP00000337773", "ENSEMBL:ENSP00000337773.2", "ENSEMBL:ENSP00000369795", "ENSEMBL:ENSP00000369795.1", "ENSEMBL:ENSP00000369822", "ENSEMBL:ENSP00000369822.4", "UMLS:C3538814", "UniProtKB:Q5TD07", "ENSEMBL:ENSP00000369806", "ENSEMBL:ENSP00000369806.1", "ENSEMBL:ENSP00000369821", "ENSEMBL:ENSP00000369821.4"], "information_content": 95.4}
{"id": "NCBIGene:122046", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX26", "equivalent_identifiers": ["NCBIGene:122046", "ENSEMBL:ENSG00000175664", "HGNC:28622", "UMLS:C3469980", "UniProtKB:Q8N6G2", "PR:Q8N6G2", "ENSEMBL:ENSP00000369840", "ENSEMBL:ENSP00000369840.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y426-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C2 domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y426-1", "PR:Q9Y426-1", "ENSEMBL:ENSP00000369853", "ENSEMBL:ENSP00000369853.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96DX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and SOCS box protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DX5-1", "PR:Q96DX5-1", "ENSEMBL:ENSP00000369855", "ENSEMBL:ENSP00000369855.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWZ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BRCA1-A complex subunit Abraxas 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWZ7-1", "PR:Q6UWZ7-1", "ENSEMBL:ENSP00000369857", "ENSEMBL:ENSP00000369857.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHP6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "motile sperm domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHP6-1", "PR:Q8NHP6-1", "ENSEMBL:ENSP00000369860", "ENSEMBL:ENSP00000369860.3"], "information_content": 100.0}
{"id": "UniProtKB:Q71RH2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ceramide synthase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q71RH2-1", "PR:Q71RH2-1", "ENSEMBL:ENSP00000369863", "ENSEMBL:ENSP00000369863.4"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z4H7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HAUS augmin-like complex subunit 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4H7-1", "PR:Q7Z4H7-1", "ENSEMBL:ENSP00000369871", "ENSEMBL:ENSP00000369871.3"], "information_content": 100.0}
{"id": "UniProtKB:P02458-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(II) chain isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P02458-2", "PR:P02458-2", "ENSEMBL:ENSP00000369889", "ENSEMBL:ENSP00000369889.3"], "information_content": 100.0}
{"id": "NCBIGene:54960", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GEMIN8", "equivalent_identifiers": ["NCBIGene:54960", "ENSEMBL:ENSG00000046647", "HGNC:26044", "OMIM:300962", "UMLS:C1825340", "UniProtKB:Q9NWZ8", "PR:Q9NWZ8", "ENSEMBL:ENSP00000369895", "ENSEMBL:ENSP00000369895.4", "ENSEMBL:ENSP00000381398", "ENSEMBL:ENSP00000381398.3", "ENSEMBL:ENSP00000505279", "ENSEMBL:ENSP00000505279.1", "ENSEMBL:ENSP00000505429", "ENSEMBL:ENSP00000505429.1", "UMLS:C1721593", "MESH:C510132"], "information_content": 92.8}
{"id": "UniProtKB:P49589-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine--tRNA ligase, cytoplasmic isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:P49589-3", "PR:P49589-3", "ENSEMBL:ENSP00000369897", "ENSEMBL:ENSP00000369897.4", "ENSEMBL:ENSP00000482336", "ENSEMBL:ENSP00000482336.1"], "information_content": 100.0}
{"id": "NCBIGene:10670", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RRAGA", "equivalent_identifiers": ["NCBIGene:10670", "ENSEMBL:ENSG00000155876", "HGNC:16963", "OMIM:612194", "UMLS:C1335646", "UniProtKB:Q7L523", "PR:Q7L523", "ENSEMBL:ENSP00000369899", "ENSEMBL:ENSP00000369899.1", "UMLS:C1434545", "MESH:C484342"], "information_content": 90.9}
{"id": "NCBIGene:158297", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAXO1", "equivalent_identifiers": ["NCBIGene:158297", "ENSEMBL:ENSG00000155875", "HGNC:28566", "OMIM:616292", "UMLS:C1538361", "UniProtKB:B3KQ57", "UMLS:C4277217", "MESH:C000606738", "UniProtKB:F6S232", "ENSEMBL:ENSP00000438823", "ENSEMBL:ENSP00000438823.2", "ENSEMBL:ENSP00000497677", "ENSEMBL:ENSP00000497677.1", "UniProtKB:Q5VZT6", "ENSEMBL:ENSP00000369902", "ENSEMBL:ENSP00000369902.1", "UniProtKB:Q8IYX7", "PR:Q8IYX7", "ENSEMBL:ENSP00000369907", "ENSEMBL:ENSP00000369907.4"], "information_content": 100.0}
{"id": "UniProtKB:Q99733-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleosome assembly protein 1-like 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99733-1", "PR:Q99733-1", "ENSEMBL:ENSP00000369915", "ENSEMBL:ENSP00000369915.4", "ENSEMBL:ENSP00000483728", "ENSEMBL:ENSP00000483728.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6G6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADAMTS-like protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6G6-3", "PR:Q8N6G6-3", "ENSEMBL:ENSP00000369921", "ENSEMBL:ENSP00000369921.4"], "information_content": 100.0}
{"id": "UniProtKB:P42330-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aldo-keto reductase family 1 member C3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P42330-1", "PR:P42330-1", "ENSEMBL:ENSP00000369927", "ENSEMBL:ENSP00000369927.3"], "information_content": 100.0}
{"id": "NCBIGene:5002", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC67A1", "equivalent_identifiers": ["NCBIGene:5002", "ENSEMBL:ENSG00000110628", "HGNC:10964", "OMIM:602631", "UMLS:C1420135", "UniProtKB:A0A024RCG2", "ENSEMBL:ENSP00000479357", "ENSEMBL:ENSP00000479357.1", "ENSEMBL:ENSP00000480848", "ENSEMBL:ENSP00000480848.1", "ENSEMBL:ENSP00000482330", "ENSEMBL:ENSP00000482330.1", "UniProtKB:E9PRM7", "ENSEMBL:ENSP00000392072", "ENSEMBL:ENSP00000392072.2", "UniProtKB:Q96BI1", "PR:Q96BI1", "ENSEMBL:ENSP00000307859", "ENSEMBL:ENSP00000307859.2", "ENSEMBL:ENSP00000369948", "ENSEMBL:ENSP00000369948.1", "ENSEMBL:ENSP00000497561", "ENSEMBL:ENSP00000497561.1", "UMLS:C0673602", "MESH:C111653"], "information_content": 90.9}
{"id": "UniProtKB:P35348-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-1A adrenergic receptor isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P35348-2", "PR:P35348-2", "ENSEMBL:ENSP00000369960", "ENSEMBL:ENSP00000369960.1"], "information_content": 100.0}
{"id": "NCBIGene:150084", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGSF5", "equivalent_identifiers": ["NCBIGene:150084", "ENSEMBL:ENSG00000183067", "HGNC:5952", "OMIM:610638", "UMLS:C1416374", "UniProtKB:Q9NSI5", "PR:Q9NSI5", "ENSEMBL:ENSP00000369962", "ENSEMBL:ENSP00000369962.4", "UMLS:C3253524", "MESH:C568768"], "information_content": 92.8}
{"id": "UniProtKB:P20290-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor BTF3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20290-1", "PR:P20290-1", "ENSEMBL:ENSP00000369965", "ENSEMBL:ENSP00000369965.3"], "information_content": 100.0}
{"id": "MONDO:0013434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 14", "equivalent_identifiers": ["MONDO:0013434", "DOID:0110598", "OMIM:613807", "UMLS:C3151136", "NCIT:C148370", "medgen:462486"], "information_content": 100.0}
{"id": "MONDO:0009260", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "GM1 gangliosidosis type 1", "equivalent_identifiers": ["MONDO:0009260", "DOID:0080502", "OMIM:230500", "orphanet:79255", "UMLS:C0268271", "UMLS:C1968748", "MESH:C566895", "SNOMEDCT:238026007", "medgen:75665", "icd11.foundation:466200180"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUX8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epidermal growth factor-like protein 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUX8-2", "PR:Q8IUX8-2", "ENSEMBL:ENSP00000369976", "ENSEMBL:ENSP00000369976.3"], "information_content": 100.0}
{"id": "NCBIGene:6456", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SH3GL2", "equivalent_identifiers": ["NCBIGene:6456", "ENSEMBL:ENSG00000107295", "HGNC:10831", "OMIM:604465", "UMLS:C1420026", "UniProtKB:Q99962", "PR:Q99962", "ENSEMBL:ENSP00000369981", "ENSEMBL:ENSP00000369981.4"], "information_content": 95.4}
{"id": "NCBIGene:84056", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KATNAL1", "equivalent_identifiers": ["NCBIGene:84056", "ENSEMBL:ENSG00000102781", "HGNC:28361", "OMIM:614764", "UMLS:C1428695", "UniProtKB:B3KUK7", "UMLS:C4041620", "MESH:C000600349", "UniProtKB:Q9BW62", "PR:Q9BW62", "ENSEMBL:ENSP00000369989", "ENSEMBL:ENSP00000369989.3", "ENSEMBL:ENSP00000369991", "ENSEMBL:ENSP00000369991.3"], "information_content": 100.0}
{"id": "NCBIGene:92552", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATXN3L", "equivalent_identifiers": ["NCBIGene:92552", "ENSEMBL:ENSG00000123594", "HGNC:24173", "OMIM:300920", "UMLS:C1538302", "UniProtKB:B4DYC7", "UMLS:C3180287", "MESH:C556818", "UniProtKB:Q9H3M9", "PR:Q9H3M9", "ENSEMBL:ENSP00000369996", "ENSEMBL:ENSP00000369996.2"], "information_content": 100.0}
{"id": "MONDO:0011781", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 17", "equivalent_identifiers": ["MONDO:0011781", "DOID:0050967", "OMIM:607136", "orphanet:98759", "UMLS:C1833995", "UMLS:C1846707", "MESH:C563505", "MESH:C564616", "MESH:C565866", "NCIT:C179861", "SNOMEDCT:719249005", "medgen:337637", "icd11.foundation:1173627424"], "information_content": 100.0}
{"id": "UniProtKB:O60238-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60238-1", "PR:O60238-1", "ENSEMBL:ENSP00000370003", "ENSEMBL:ENSP00000370003.2"], "information_content": 100.0}
{"id": "NCBIGene:7114", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMSB4X", "equivalent_identifiers": ["NCBIGene:7114", "ENSEMBL:ENSG00000205542", "HGNC:11881", "OMIM:300159", "UMLS:C1420787", "UniProtKB:A2VCK8", "UMLS:C5771950", "MESH:C000726033", "UniProtKB:P62328", "PR:P62328", "ENSEMBL:ENSP00000370007", "ENSEMBL:ENSP00000370007.1", "ENSEMBL:ENSP00000370009", "ENSEMBL:ENSP00000370009.1", "ENSEMBL:ENSP00000370010", "ENSEMBL:ENSP00000370010.1", "ENSEMBL:ENSP00000414376", "ENSEMBL:ENSP00000414376.2", "UMLS:C4521323", "UniProtKB:Q0P5T0"], "information_content": 89.4}
{"id": "UniProtKB:Q8WV60-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pentatricopeptide repeat-containing protein 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WV60-1", "PR:Q8WV60-1", "ENSEMBL:ENSP00000308948", "ENSEMBL:ENSP00000308948.5", "ENSEMBL:ENSP00000370013", "ENSEMBL:ENSP00000370013.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXG0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centlein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXG0-2", "PR:Q9NXG0-2", "ENSEMBL:ENSP00000370021", "ENSEMBL:ENSP00000370021.3"], "information_content": 100.0}
{"id": "NCBIGene:57593", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EBF4", "equivalent_identifiers": ["NCBIGene:57593", "ENSEMBL:ENSG00000088881", "HGNC:29278", "OMIM:609935", "UMLS:C1835920", "UniProtKB:E9PEI2", "ENSEMBL:ENSP00000370022", "ENSEMBL:ENSP00000370022.4", "UniProtKB:Q7Z5T1", "UniProtKB:Q9BQW3", "PR:Q9BQW3", "UMLS:C4723812"]}
{"id": "UniProtKB:P40939-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trifunctional enzyme subunit alpha, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P40939-1", "PR:P40939-1", "ENSEMBL:ENSP00000370023", "ENSEMBL:ENSP00000370023.3"], "information_content": 100.0}
{"id": "NCBIGene:51284", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLR7", "equivalent_identifiers": ["NCBIGene:51284", "ENSEMBL:ENSG00000196664", "HGNC:15631", "OMIM:300365", "UMLS:C1336639", "UniProtKB:B2R9N9", "UniProtKB:Q9NYK1", "PR:Q9NYK1", "ENSEMBL:ENSP00000370034", "ENSEMBL:ENSP00000370034.3", "UMLS:C0971207", "MESH:C495348"], "information_content": 80.6}
{"id": "UniProtKB:Q6ZN30-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein basonuclin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZN30-1", "PR:Q6ZN30-1", "ENSEMBL:ENSP00000370047", "ENSEMBL:ENSP00000370047.3"], "information_content": 100.0}
{"id": "NCBIGene:5412", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBL3", "equivalent_identifiers": ["NCBIGene:5412", "ENSEMBL:ENSG00000122042", "HGNC:12504", "OMIM:604711", "UMLS:C1421300", "UniProtKB:O95164", "PR:O95164", "ENSEMBL:ENSP00000370055", "ENSEMBL:ENSP00000370055.4", "UMLS:C5196669", "MESH:C000629828"], "information_content": 90.9}
{"id": "NCBIGene:9758", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FRMPD4", "equivalent_identifiers": ["NCBIGene:9758", "ENSEMBL:ENSG00000169933", "HGNC:29007", "OMIM:300838", "UMLS:C1825317", "UniProtKB:A0A087WYX8", "ENSEMBL:ENSP00000482182", "ENSEMBL:ENSP00000482182.2", "UniProtKB:A0A5F9ZH12", "ENSEMBL:ENSP00000499962", "ENSEMBL:ENSP00000499962.1", "UniProtKB:A0A6Q8PH73", "ENSEMBL:ENSP00000502607", "ENSEMBL:ENSP00000502607.1", "UniProtKB:B7ZLE1", "UniProtKB:Q14CM0", "PR:Q14CM0", "ENSEMBL:ENSP00000370057", "ENSEMBL:ENSP00000370057.1", "UMLS:C2714946", "MESH:C539678"], "information_content": 100.0}
{"id": "NCBIGene:5272", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINB9", "equivalent_identifiers": ["NCBIGene:5272", "ENSEMBL:ENSG00000170542", "HGNC:8955", "OMIM:601799", "UMLS:C1418556", "UniProtKB:A0A024QZT4", "UMLS:C1430500", "MESH:C102316", "UniProtKB:P50453", "PR:P50453", "ENSEMBL:ENSP00000370074", "ENSEMBL:ENSP00000370074.4", "ENSEMBL:ENSP00000520789", "ENSEMBL:ENSP00000520789.1", "UMLS:C3537272"], "information_content": 89.4}
{"id": "UniProtKB:P27815-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3',5'-cyclic-AMP phosphodiesterase 4A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P27815-1", "PR:P27815-1", "ENSEMBL:ENSP00000370078", "ENSEMBL:ENSP00000370078.3"], "information_content": 100.0}
{"id": "UniProtKB:Q16637-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "survival motor neuron protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16637-1", "PR:Q16637-1", "ENSEMBL:ENSP00000305857", "ENSEMBL:ENSP00000305857.5", "ENSEMBL:ENSP00000370083", "ENSEMBL:ENSP00000370083.4", "ENSEMBL:ENSP00000370117", "ENSEMBL:ENSP00000370117.5", "ENSEMBL:ENSP00000370119", "ENSEMBL:ENSP00000370119.4", "ENSEMBL:ENSP00000479920", "ENSEMBL:ENSP00000479920.1", "ENSEMBL:ENSP00000482966", "ENSEMBL:ENSP00000482966.1", "ENSEMBL:ENSP00000483515", "ENSEMBL:ENSP00000483515.1", "ENSEMBL:ENSP00000483819", "ENSEMBL:ENSP00000483819.1", "ENSEMBL:ENSP00000487206", "ENSEMBL:ENSP00000487206.1", "ENSEMBL:ENSP00000487421", "ENSEMBL:ENSP00000487421.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99217-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amelogenin, X isoform isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q99217-3", "PR:Q99217-3", "ENSEMBL:ENSP00000370088", "ENSEMBL:ENSP00000370088.3"], "information_content": 100.0}
{"id": "UniProtKB:O75475-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PC4 and SFRS1-interacting protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75475-1", "PR:O75475-1", "ENSEMBL:ENSP00000370109", "ENSEMBL:ENSP00000370109.4", "ENSEMBL:ENSP00000370114", "ENSEMBL:ENSP00000370114.4"], "information_content": 100.0}
{"id": "UniProtKB:P30740-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukocyte elastase inhibitor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30740-1", "PR:P30740-1", "ENSEMBL:ENSP00000370115", "ENSEMBL:ENSP00000370115.5"], "information_content": 100.0}
{"id": "NCBIGene:3150", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMGN1", "equivalent_identifiers": ["NCBIGene:3150", "ENSEMBL:ENSG00000205581", "HGNC:4984", "OMIM:163920", "UMLS:C1333912", "UniProtKB:P05114", "PR:P05114", "ENSEMBL:ENSP00000370125", "ENSEMBL:ENSP00000370125.5", "UMLS:C5441585", "UniProtKB:Q6NSG7"], "information_content": 92.8}
{"id": "NCBIGene:6541", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC7A1", "equivalent_identifiers": ["NCBIGene:6541", "ENSEMBL:ENSG00000139514", "HGNC:11057", "OMIM:104615", "UMLS:C1442751", "UniProtKB:P30825", "PR:P30825", "ENSEMBL:ENSP00000370128", "ENSEMBL:ENSP00000370128.5", "UMLS:C0527117", "MESH:C420825"], "information_content": 88.2}
{"id": "UniProtKB:P52895-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aldo-keto reductase family 1 member C2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P52895-1", "PR:P52895-1", "ENSEMBL:ENSP00000370129", "ENSEMBL:ENSP00000370129.4"], "information_content": 100.0}
{"id": "NCBIGene:3052", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HCCS", "equivalent_identifiers": ["NCBIGene:3052", "ENSEMBL:ENSG00000004961", "HGNC:4837", "OMIM:300056", "UMLS:C1415491", "UniProtKB:P53701", "PR:P53701", "ENSEMBL:ENSP00000326579", "ENSEMBL:ENSP00000326579.4", "ENSEMBL:ENSP00000370139", "ENSEMBL:ENSP00000370139.4", "ENSEMBL:ENSP00000370140", "ENSEMBL:ENSP00000370140.3", "UMLS:C1999797", "UMLS:C2699540"], "information_content": 100.0}
{"id": "UniProtKB:Q96S55-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATPase WRNIP1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96S55-1", "PR:Q96S55-1", "ENSEMBL:ENSP00000370150", "ENSEMBL:ENSP00000370150.4", "ENSEMBL:ENSP00000477551", "ENSEMBL:ENSP00000477551.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z3Q1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal proton-coupled steroid conjugate and bile acid symporter SLC46A3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3Q1-2", "PR:Q7Z3Q1-2", "ENSEMBL:ENSP00000370192", "ENSEMBL:ENSP00000370192.4"], "information_content": 100.0}
{"id": "NCBIGene:6880", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAF9", "equivalent_identifiers": ["NCBIGene:6880", "ENSEMBL:ENSG00000273841", "HGNC:11542", "OMIM:600822", "UMLS:C1336573", "UniProtKB:Q16594", "PR:Q16594", "ENSEMBL:ENSP00000217893", "ENSEMBL:ENSP00000217893.7", "ENSEMBL:ENSP00000370193", "ENSEMBL:ENSP00000370193.1", "ENSEMBL:ENSP00000421873", "ENSEMBL:ENSP00000421873.1", "ENSEMBL:ENSP00000425798", "ENSEMBL:ENSP00000425798.4", "ENSEMBL:ENSP00000425944", "ENSEMBL:ENSP00000425944.4", "ENSEMBL:ENSP00000426283", "ENSEMBL:ENSP00000426283.2", "ENSEMBL:ENSP00000427343", "ENSEMBL:ENSP00000427343.4", "ENSEMBL:ENSP00000427617", "ENSEMBL:ENSP00000427617.4", "ENSEMBL:ENSP00000477611", "ENSEMBL:ENSP00000477611.1", "ENSEMBL:ENSP00000477750", "ENSEMBL:ENSP00000477750.1", "ENSEMBL:ENSP00000478935", "ENSEMBL:ENSP00000478935.1", "ENSEMBL:ENSP00000508645", "ENSEMBL:ENSP00000508645.1", "ENSEMBL:ENSP00000509452", "ENSEMBL:ENSP00000509452.1", "ENSEMBL:ENSP00000509753", "ENSEMBL:ENSP00000509753.1", "ENSEMBL:ENSP00000509848", "ENSEMBL:ENSP00000509848.1", "ENSEMBL:ENSP00000509913", "ENSEMBL:ENSP00000509913.1", "ENSEMBL:ENSP00000510101", "ENSEMBL:ENSP00000510101.1", "ENSEMBL:ENSP00000510364", "ENSEMBL:ENSP00000510364.1", "ENSEMBL:ENSP00000510605", "ENSEMBL:ENSP00000510605.1", "UMLS:C0540760", "MESH:C106849"], "information_content": 92.8}
{"id": "UniProtKB:O60547-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GDP-mannose 4,6 dehydratase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60547-1", "PR:O60547-1", "ENSEMBL:ENSP00000370194", "ENSEMBL:ENSP00000370194.4"], "information_content": 100.0}
{"id": "MONDO:0000393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "partial fetal alcohol syndrome", "equivalent_identifiers": ["MONDO:0000393", "DOID:0050666", "UMLS:C3661483", "medgen:775682"], "information_content": 100.0}
{"id": "UniProtKB:O95248-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myotubularin-related protein 5 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:O95248-5", "PR:O95248-5", "ENSEMBL:ENSP00000370196", "ENSEMBL:ENSP00000370196.2"], "information_content": 100.0}
{"id": "NCBIGene:6619", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNAPC3", "equivalent_identifiers": ["NCBIGene:6619", "ENSEMBL:ENSG00000164975", "HGNC:11136", "OMIM:602348", "UMLS:C1420274", "UniProtKB:Q92966", "PR:Q92966", "ENSEMBL:ENSP00000370200", "ENSEMBL:ENSP00000370200.3", "ENSEMBL:ENSP00000432393", "ENSEMBL:ENSP00000432393.1", "ENSEMBL:ENSP00000436699", "ENSEMBL:ENSP00000436699.1", "ENSEMBL:ENSP00000483273", "ENSEMBL:ENSP00000483273.1", "UMLS:C1430443", "MESH:C101746"], "information_content": 88.2}
{"id": "UniProtKB:P51793-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H(+)/Cl(-) exchange transporter 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51793-1", "PR:P51793-1", "ENSEMBL:ENSP00000370213", "ENSEMBL:ENSP00000370213.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6NXP6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADP-dependent oxidoreductase domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NXP6-1", "PR:Q6NXP6-1", "ENSEMBL:ENSP00000370215", "ENSEMBL:ENSP00000370215.2"], "information_content": 100.0}
{"id": "NCBIGene:51371", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POMP", "equivalent_identifiers": ["NCBIGene:51371", "ENSEMBL:ENSG00000132963", "HGNC:20330", "OMIM:613386", "UMLS:C1826645", "UniProtKB:Q9Y244", "PR:Q9Y244", "ENSEMBL:ENSP00000370222", "ENSEMBL:ENSP00000370222.4", "UMLS:C1741835"], "information_content": 90.9}
{"id": "UniProtKB:Q9ULE0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein WWC3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULE0-1", "PR:Q9ULE0-1", "ENSEMBL:ENSP00000370242", "ENSEMBL:ENSP00000370242.6"], "information_content": 100.0}
{"id": "UniProtKB:Q99801-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Nkx-3.1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99801-1", "PR:Q99801-1", "ENSEMBL:ENSP00000370253", "ENSEMBL:ENSP00000370253.4"], "information_content": 100.0}
{"id": "NCBIGene:1645", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AKR1C1", "equivalent_identifiers": ["NCBIGene:1645", "ENSEMBL:ENSG00000187134", "HGNC:384", "OMIM:600449", "UMLS:C1412324", "UniProtKB:Q04828", "PR:Q04828", "ENSEMBL:ENSP00000370254", "ENSEMBL:ENSP00000370254.4", "UMLS:C1721278"], "information_content": 100.0}
{"id": "UniProtKB:O95718-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "steroid hormone receptor ERR2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95718-1", "PR:O95718-1", "ENSEMBL:ENSP00000370270", "ENSEMBL:ENSP00000370270.2", "ENSEMBL:ENSP00000422488", "ENSEMBL:ENSP00000422488.1"], "information_content": 100.0}
{"id": "NCBIGene:83642", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SELENOO", "equivalent_identifiers": ["NCBIGene:83642", "ENSEMBL:ENSG00000073169", "HGNC:30395", "OMIM:607917", "UMLS:C1842832", "UniProtKB:Q9BVL4", "PR:Q9BVL4", "ENSEMBL:ENSP00000370288", "ENSEMBL:ENSP00000370288.2"], "information_content": 95.4}
{"id": "NCBIGene:135458", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HUS1B", "equivalent_identifiers": ["NCBIGene:135458", "ENSEMBL:ENSG00000188996", "HGNC:16485", "OMIM:609713", "UMLS:C1424317", "UniProtKB:Q8NHY5", "PR:Q8NHY5", "ENSEMBL:ENSP00000370293", "ENSEMBL:ENSP00000370293.2", "UMLS:C1138354", "MESH:C462949"], "information_content": 100.0}
{"id": "NCBIGene:9350", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CER1", "equivalent_identifiers": ["NCBIGene:9350", "ENSEMBL:ENSG00000147869", "HGNC:1862", "OMIM:603777", "UMLS:C1413346", "UniProtKB:O95813", "PR:O95813", "ENSEMBL:ENSP00000370297", "ENSEMBL:ENSP00000370297.3", "UMLS:C1742950", "UMLS:C2987744", "MESH:C514249"], "information_content": 95.4}
{"id": "MONDO:0027407", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kleefstra syndrome 1", "equivalent_identifiers": ["MONDO:0027407", "DOID:0060352", "OMIM:610253", "UMLS:C0795833", "MESH:C563043", "NCIT:C129976", "SNOMEDCT:724207001", "medgen:208639"], "information_content": 95.4}
{"id": "NCBIGene:357", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SHROOM2", "equivalent_identifiers": ["NCBIGene:357", "ENSEMBL:ENSG00000146950", "HGNC:630", "OMIM:300103", "UMLS:C1822720", "UniProtKB:B7Z682", "UniProtKB:F5H3B6", "ENSEMBL:ENSP00000415229", "ENSEMBL:ENSP00000415229.3", "UniProtKB:Q13796", "PR:Q13796", "ENSEMBL:ENSP00000370299", "ENSEMBL:ENSP00000370299.3", "UMLS:C1307782", "MESH:C101060"], "information_content": 95.4}
{"id": "NCBIGene:340481", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZDHHC21", "equivalent_identifiers": ["NCBIGene:340481", "ENSEMBL:ENSG00000175893", "HGNC:20750", "OMIM:614605", "UMLS:C1427108", "UniProtKB:Q8IVQ6", "PR:Q8IVQ6", "ENSEMBL:ENSP00000370303", "ENSEMBL:ENSP00000370303.3", "UMLS:C3491522", "MESH:C571412"], "information_content": 95.4}
{"id": "UniProtKB:O94986-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 152 kDa isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O94986-4", "PR:O94986-4", "ENSEMBL:ENSP00000370337", "ENSEMBL:ENSP00000370337.2"], "information_content": 100.0}
{"id": "UniProtKB:O00712-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor 1 B-type isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:O00712-5", "PR:O00712-5", "ENSEMBL:ENSP00000370340", "ENSEMBL:ENSP00000370340.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15306-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon regulatory factor 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15306-1", "PR:Q15306-1", "ENSEMBL:ENSP00000370343", "ENSEMBL:ENSP00000370343.4"], "information_content": 100.0}
{"id": "UniProtKB:Q58A45-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PAN2-PAN3 deadenylation complex subunit PAN3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q58A45-1", "PR:Q58A45-1", "ENSEMBL:ENSP00000370345", "ENSEMBL:ENSP00000370345.3"], "information_content": 100.0}
{"id": "MONDO:0000870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood acute lymphoblastic leukemia", "equivalent_identifiers": ["MONDO:0000870", "DOID:0080144", "UMLS:C0023452", "NCIT:C27290", "NCIT:C3168", "medgen:44122"], "information_content": 77.3}
{"id": "NCBIGene:57486", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NLN", "equivalent_identifiers": ["NCBIGene:57486", "ENSEMBL:ENSG00000123213", "HGNC:16058", "OMIM:611530", "UMLS:C1423943", "UniProtKB:Q9BYT8", "PR:Q9BYT8", "ENSEMBL:ENSP00000370372", "ENSEMBL:ENSP00000370372.5"], "information_content": 89.4}
{"id": "UniProtKB:P68106-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidyl-prolyl cis-trans isomerase FKBP1B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P68106-1", "PR:P68106-1", "ENSEMBL:ENSP00000370373", "ENSEMBL:ENSP00000370373.4"], "information_content": 100.0}
{"id": "UniProtKB:P33316-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P33316-3", "PR:P33316-3", "ENSEMBL:ENSP00000370376", "ENSEMBL:ENSP00000370376.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5JRX3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "presequence protease, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5JRX3-2", "PR:Q5JRX3-2", "ENSEMBL:ENSP00000370377", "ENSEMBL:ENSP00000370377.2"], "information_content": 100.0}
{"id": "NCBIGene:54557", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SGTB", "equivalent_identifiers": ["NCBIGene:54557", "ENSEMBL:ENSG00000197860", "HGNC:23567", "OMIM:620526", "UMLS:C1428131", "UniProtKB:Q96EQ0", "PR:Q96EQ0", "ENSEMBL:ENSP00000370395", "ENSEMBL:ENSP00000370395.4", "UMLS:C5226341", "MESH:C000656326"], "information_content": 89.4}
{"id": "NCBIGene:1045", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDX2", "equivalent_identifiers": ["NCBIGene:1045", "ENSEMBL:ENSG00000165556", "HGNC:1806", "OMIM:600297", "UMLS:C1332743", "UniProtKB:Q99626", "PR:Q99626", "ENSEMBL:ENSP00000370408", "ENSEMBL:ENSP00000370408.6", "UMLS:C1505661", "MESH:C491270"], "information_content": 95.4}
{"id": "NCBIGene:55020", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTC38", "equivalent_identifiers": ["NCBIGene:55020", "ENSEMBL:ENSG00000075234", "HGNC:26082", "UMLS:C2681087", "UniProtKB:Q5R3I4", "PR:Q5R3I4", "ENSEMBL:ENSP00000370419", "ENSEMBL:ENSP00000370419.3", "UMLS:C4547304", "MESH:C000625319"], "information_content": 92.8}
{"id": "UniProtKB:Q9H321-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "variable charge X-linked protein 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H321-1", "PR:Q9H321-1", "ENSEMBL:ENSP00000370420", "ENSEMBL:ENSP00000370420.1"], "information_content": 100.0}
{"id": "NCBIGene:3651", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDX1", "equivalent_identifiers": ["NCBIGene:3651", "ENSEMBL:ENSG00000139515", "HGNC:6107", "OMIM:600733", "UMLS:C1826562", "UniProtKB:P52945", "PR:P52945", "ENSEMBL:ENSP00000370421", "ENSEMBL:ENSP00000370421.4", "UMLS:C1528563"], "information_content": 95.4}
{"id": "UniProtKB:P41247-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "patatin-like phospholipase domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P41247-1", "PR:P41247-1", "ENSEMBL:ENSP00000370430", "ENSEMBL:ENSP00000370430.4", "ENSEMBL:ENSP00000415245", "ENSEMBL:ENSP00000415245.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKP5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "a disintegrin and metalloproteinase with thrombospondin motifs 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKP5-1", "PR:Q9UKP5-1", "ENSEMBL:ENSP00000370443", "ENSEMBL:ENSP00000370443.3"], "information_content": 100.0}
{"id": "NCBIGene:26609", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VCX", "equivalent_identifiers": ["NCBIGene:26609", "ENSEMBL:ENSG00000182583", "HGNC:12667", "OMIM:300229", "UMLS:C1421438", "UniProtKB:Q9H320", "PR:Q9H320", "ENSEMBL:ENSP00000370447", "ENSEMBL:ENSP00000370447.3", "ENSEMBL:ENSP00000509688", "ENSEMBL:ENSP00000509688.1", "UMLS:C1438772", "MESH:C404411"], "information_content": 100.0}
{"id": "UniProtKB:Q6UX04-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spliceosome-associated protein CWC27 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UX04-1", "PR:Q6UX04-1", "ENSEMBL:ENSP00000370460", "ENSEMBL:ENSP00000370460.2"], "information_content": 100.0}
{"id": "UniProtKB:P17936-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "insulin-like growth factor-binding protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P17936-2", "PR:P17936-2", "ENSEMBL:ENSP00000370473", "ENSEMBL:ENSP00000370473.4"], "information_content": 100.0}
{"id": "NCBIGene:51481", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VCX3A", "equivalent_identifiers": ["NCBIGene:51481", "ENSEMBL:ENSG00000169059", "HGNC:18159", "OMIM:300533", "UMLS:C1540175", "UniProtKB:Q9NNX9", "PR:Q9NNX9", "ENSEMBL:ENSP00000370479", "ENSEMBL:ENSP00000370479.3", "UMLS:C3710941", "MESH:C584038"], "information_content": 100.0}
{"id": "UniProtKB:Q8N0W4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuroligin-4, X-linked isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N0W4-1", "PR:Q8N0W4-1", "ENSEMBL:ENSP00000275857", "ENSEMBL:ENSP00000275857.6", "ENSEMBL:ENSP00000370482", "ENSEMBL:ENSP00000370482.1", "ENSEMBL:ENSP00000370483", "ENSEMBL:ENSP00000370483.3", "ENSEMBL:ENSP00000370485", "ENSEMBL:ENSP00000370485.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSQ5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cerebral cavernous malformations 2 protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSQ5-2", "PR:Q9BSQ5-2", "ENSEMBL:ENSP00000370503", "ENSEMBL:ENSP00000370503.3"], "information_content": 100.0}
{"id": "NCBIGene:219402", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTIF3", "equivalent_identifiers": ["NCBIGene:219402", "ENSEMBL:ENSG00000122033", "HGNC:29788", "OMIM:619554", "UMLS:C1826325", "UniProtKB:Q9H2K0", "PR:Q9H2K0", "ENSEMBL:ENSP00000370508", "ENSEMBL:ENSP00000370508.1", "ENSEMBL:ENSP00000370512", "ENSEMBL:ENSP00000370512.3", "ENSEMBL:ENSP00000384659", "ENSEMBL:ENSP00000384659.2", "UMLS:C1871238", "MESH:C519156"], "information_content": 95.4}
{"id": "MONDO:0001585", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hallucinogen abuse", "equivalent_identifiers": ["MONDO:0001585", "DOID:12797", "UMLS:C0018526", "MEDDRA:10019080", "SNOMEDCT:74851005", "medgen:507771", "ICD10:F16.1", "ICD9:305.3"], "information_content": 100.0}
{"id": "MONDO:0012664", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic ataxia 3", "equivalent_identifiers": ["MONDO:0012664", "DOID:0050942", "OMIM:611390", "orphanet:314603", "UMLS:C1969645", "MESH:C566956", "SNOMEDCT:784343003", "medgen:370715"], "information_content": 100.0}
{"id": "UniProtKB:Q01813-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent 6-phosphofructokinase, platelet type isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q01813-1", "PR:Q01813-1", "ENSEMBL:ENSP00000370517", "ENSEMBL:ENSP00000370517.4"], "information_content": 100.0}
{"id": "NCBIGene:416", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARSF", "equivalent_identifiers": ["NCBIGene:416", "ENSEMBL:ENSG00000062096", "HGNC:721", "OMIM:300003", "UMLS:C1412560", "UniProtKB:P54793", "PR:P54793", "ENSEMBL:ENSP00000352319", "ENSEMBL:ENSP00000352319.2", "ENSEMBL:ENSP00000370519", "ENSEMBL:ENSP00000370519.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9NZN9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aryl-hydrocarbon-interacting protein-like 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZN9-1", "PR:Q9NZN9-1", "ENSEMBL:ENSP00000370521", "ENSEMBL:ENSP00000370521.3"], "information_content": 100.0}
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{"id": "NCBIGene:1827", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RCAN1", "equivalent_identifiers": ["NCBIGene:1827", "ENSEMBL:ENSG00000159200", "HGNC:3040", "OMIM:602917", "UMLS:C1414160", "UniProtKB:B7Z1F0", "UMLS:C1312473", "MESH:C108612", "UniProtKB:E9PDJ2", "ENSEMBL:ENSP00000370527", "ENSEMBL:ENSP00000370527.4", "UniProtKB:P53805", "PR:P53805", "UniProtKB:Q6FGP2", "UniProtKB:Q6ZMM3", "UniProtKB:V9GYW9", "ENSEMBL:ENSP00000477155", "ENSEMBL:ENSP00000477155.1"]}
{"id": "UniProtKB:Q3I5F7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-coenzyme A thioesterase 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q3I5F7-2", "PR:Q3I5F7-2", "ENSEMBL:ENSP00000370531", "ENSEMBL:ENSP00000370531.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92664-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor IIIA isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92664-1", "PR:Q92664-1", "ENSEMBL:ENSP00000370532", "ENSEMBL:ENSP00000370532.5"], "information_content": 100.0}
{"id": "MONDO:0001742", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interval angle-closure glaucoma", "equivalent_identifiers": ["MONDO:0001742", "DOID:13549", "UMLS:C0154945", "MEDDRA:10022560", "SNOMEDCT:65460003", "medgen:509734", "ICD10:H40.23", "ICD9:365.21"], "information_content": 100.0}
{"id": "NCBIGene:6382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDC1", "equivalent_identifiers": ["NCBIGene:6382", "ENSEMBL:ENSG00000115884", "HGNC:10658", "OMIM:186355", "UMLS:C1419891", "UniProtKB:P18827", "PR:P18827", "ENSEMBL:ENSP00000254351", "ENSEMBL:ENSP00000254351.4", "ENSEMBL:ENSP00000370542", "ENSEMBL:ENSP00000370542.1", "UMLS:C0753253", "MESH:C508241"], "information_content": 77.6}
{"id": "MONDO:0002274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "monoclonal paraproteinemia disease", "equivalent_identifiers": ["MONDO:0002274", "DOID:2346", "UMLS:C0026471", "MEDDRA:10027866", "MEDDRA:10027867", "SNOMEDCT:267440005", "medgen:10088", "ICD9:273.1"], "information_content": 100.0}
{"id": "NCBIGene:6526", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC5A3", "equivalent_identifiers": ["NCBIGene:6526", "ENSEMBL:ENSG00000198743", "HGNC:11038", "OMIM:600444", "UMLS:C1420202", "UniProtKB:P53794", "PR:P53794", "ENSEMBL:ENSP00000370543", "ENSEMBL:ENSP00000370543.3", "UMLS:C1448685", "MESH:C073884"], "information_content": 92.8}
{"id": "MONDO:0007827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inclusion body myositis", "equivalent_identifiers": ["MONDO:0007827", "DOID:3429", "OMIM:147421", "orphanet:611", "EFO:0007323", "UMLS:C0238190", "MESH:D018979", "MEDDRA:10066407", "NCIT:C84786", "SNOMEDCT:72315009", "medgen:68659", "ICD10:G72.41", "ICD9:359.71"], "information_content": 89.4}
{"id": "UniProtKB:P51689-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arylsulfatase D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51689-1", "PR:P51689-1", "ENSEMBL:ENSP00000370546", "ENSEMBL:ENSP00000370546.1"], "information_content": 100.0}
{"id": "MONDO:0020487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pontiac fever", "equivalent_identifiers": ["MONDO:0020487", "DOID:0050150", "orphanet:99748", "UMLS:C0343528", "MEDDRA:10054161", "NCIT:C128335", "SNOMEDCT:240447002", "medgen:575661", "icd11.foundation:1670562980"], "information_content": 100.0}
{"id": "UniProtKB:O15488-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycogenin-2 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:O15488-1", "PR:O15488-1", "ENSEMBL:ENSP00000370555", "ENSEMBL:ENSP00000370555.3"], "information_content": 100.0}
{"id": "NCBIGene:79003", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MIS12", "equivalent_identifiers": ["NCBIGene:79003", "ENSEMBL:ENSG00000167842", "HGNC:24967", "OMIM:609178", "UMLS:C1537921", "UniProtKB:A8K1M4", "UMLS:C1528176", "MESH:C492664", "UniProtKB:Q9H081", "PR:Q9H081", "ENSEMBL:ENSP00000370557", "ENSEMBL:ENSP00000370557.3", "ENSEMBL:ENSP00000461252", "ENSEMBL:ENSP00000461252.1", "ENSEMBL:ENSP00000484532", "ENSEMBL:ENSP00000484532.1"], "information_content": 100.0}
{"id": "NCBIGene:85352", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SHISAL1", "equivalent_identifiers": ["NCBIGene:85352", "ENSEMBL:ENSG00000138944", "HGNC:29335", "OMIM:620220", "UMLS:C4555123", "UniProtKB:Q3SXP7", "PR:Q3SXP7", "ENSEMBL:ENSP00000370568", "ENSEMBL:ENSP00000370568.4", "UMLS:C5829262", "MESH:C000729135"], "information_content": 100.0}
{"id": "UniProtKB:P07101-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine 3-monooxygenase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P07101-1", "PR:P07101-1", "ENSEMBL:ENSP00000370571", "ENSEMBL:ENSP00000370571.1"], "information_content": 100.0}
{"id": "UniProtKB:P14209-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD99 antigen isoform I (human)", "equivalent_identifiers": ["UniProtKB:P14209-1", "PR:P14209-1", "ENSEMBL:ENSP00000370588", "ENSEMBL:ENSP00000370588.3", "ENSEMBL:ENSP00000518648", "ENSEMBL:ENSP00000518648.1"], "information_content": 100.0}
{"id": "NCBIGene:10528", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOP56", "equivalent_identifiers": ["NCBIGene:10528", "ENSEMBL:ENSG00000101361", "HGNC:15911", "OMIM:614154", "UMLS:C2678521", "UniProtKB:O00567", "PR:O00567", "ENSEMBL:ENSP00000370589", "ENSEMBL:ENSP00000370589.3", "UMLS:C1450185", "MESH:C486600"], "information_content": 95.4}
{"id": "UniProtKB:P23468-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase delta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P23468-1", "PR:P23468-1", "ENSEMBL:ENSP00000348812", "ENSEMBL:ENSP00000348812.5", "ENSEMBL:ENSP00000370593", "ENSEMBL:ENSP00000370593.3", "ENSEMBL:ENSP00000438164", "ENSEMBL:ENSP00000438164.1"], "information_content": 100.0}
{"id": "MONDO:0030926", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spermatogenic failure 51", "equivalent_identifiers": ["MONDO:0030926", "DOID:0112273", "OMIM:619177", "UMLS:C5543033", "medgen:1780365"], "information_content": 100.0}
{"id": "NCBIGene:253017", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TECRL", "equivalent_identifiers": ["NCBIGene:253017", "ENSEMBL:ENSG00000205678", "HGNC:27365", "OMIM:617242", "UMLS:C2828772", "UniProtKB:E9PD39", "ENSEMBL:ENSP00000426043", "ENSEMBL:ENSP00000426043.1", "UniProtKB:Q5HYJ1", "PR:Q5HYJ1", "ENSEMBL:ENSP00000370607", "ENSEMBL:ENSP00000370607.3", "UMLS:C4548632", "MESH:C000622700"], "information_content": 100.0}
{"id": "NCBIGene:9189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBED1", "equivalent_identifiers": ["NCBIGene:9189", "ENSEMBL:ENSG00000214717", "HGNC:447", "OMIM:300178", "UMLS:C1412371", "UniProtKB:O96006", "PR:O96006", "ENSEMBL:ENSP00000370616", "ENSEMBL:ENSP00000370616.3", "ENSEMBL:ENSP00000370620", "ENSEMBL:ENSP00000370620.2", "ENSEMBL:ENSP00000370621", "ENSEMBL:ENSP00000370621.4", "ENSEMBL:ENSP00000498725", "ENSEMBL:ENSP00000498725.1", "ENSEMBL:ENSP00000518653", "ENSEMBL:ENSP00000518653.1", "ENSEMBL:ENSP00000518654", "ENSEMBL:ENSP00000518654.1", "ENSEMBL:ENSP00000518655", "ENSEMBL:ENSP00000518655.1", "ENSEMBL:ENSP00000518656", "ENSEMBL:ENSP00000518656.1", "UMLS:C1872055", "MESH:C518505"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z3K6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mesoderm induction early response protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3K6-2", "PR:Q7Z3K6-2", "ENSEMBL:ENSP00000370624", "ENSEMBL:ENSP00000370624.3"], "information_content": 100.0}
{"id": "NCBIGene:5431", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR2B", "equivalent_identifiers": ["NCBIGene:5431", "ENSEMBL:ENSG00000047315", "HGNC:9188", "OMIM:180661", "UMLS:C1418739", "UniProtKB:B4DH29", "UMLS:C1569582", "MESH:C500816", "UniProtKB:B4DHJ3", "UniProtKB:C9J2Y9", "ENSEMBL:ENSP00000391452", "ENSEMBL:ENSP00000391452.2", "UniProtKB:P30876", "PR:P30876", "ENSEMBL:ENSP00000312735", "ENSEMBL:ENSP00000312735.5", "ENSEMBL:ENSP00000370625", "ENSEMBL:ENSP00000370625.1"], "information_content": 80.2}
{"id": "MONDO:0005757", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Eumycetoma", "equivalent_identifiers": ["MONDO:0005757", "DOID:13078", "EFO:0007265", "UMLS:C2350621", "MEDDRA:10028426", "SNOMEDCT:410038006", "medgen:390045", "ICD10:B47"], "information_content": 100.0}
{"id": "UniProtKB:Q15043-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metal cation symporter ZIP14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15043-1", "PR:Q15043-1", "ENSEMBL:ENSP00000289952", "ENSEMBL:ENSP00000289952.5", "ENSEMBL:ENSP00000370635", "ENSEMBL:ENSP00000370635.1"], "information_content": 100.0}
{"id": "UniProtKB:P46597-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetylserotonin O-methyltransferase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P46597-3", "PR:P46597-3", "ENSEMBL:ENSP00000370639", "ENSEMBL:ENSP00000370639.3", "ENSEMBL:ENSP00000518608", "ENSEMBL:ENSP00000518608.1"], "information_content": 100.0}
{"id": "MONDO:0800452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital amegakaryocytic thrombocytopenia 1", "equivalent_identifiers": ["MONDO:0800452", "DOID:0061005", "DOID:0090118", "OMIM:604498", "orphanet:3319", "UMLS:C5882667", "MESH:C535982", "NCIT:C115207", "SNOMEDCT:716336002", "medgen:1845022"], "information_content": 100.0}
{"id": "NCBIGene:57665", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RDH14", "equivalent_identifiers": ["NCBIGene:57665", "ENSEMBL:ENSG00000240857", "HGNC:19979", "OMIM:616796", "UMLS:C1426579", "UniProtKB:Q53RX3", "UMLS:C5690653", "MESH:C000722895", "UniProtKB:Q9HBH5", "PR:Q9HBH5", "ENSEMBL:ENSP00000370648", "ENSEMBL:ENSP00000370648.3"], "information_content": 95.4}
{"id": "NCBIGene:348654", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GEN1", "equivalent_identifiers": ["NCBIGene:348654", "ENSEMBL:ENSG00000178295", "HGNC:26881", "OMIM:612449", "UMLS:C2239486", "UniProtKB:Q17RS7", "PR:Q17RS7", "ENSEMBL:ENSP00000318977", "ENSEMBL:ENSP00000318977.7", "ENSEMBL:ENSP00000370653", "ENSEMBL:ENSP00000370653.2", "UMLS:C2606719", "MESH:C533748"], "information_content": 92.8}
{"id": "UniProtKB:P57103-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/calcium exchanger 3 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:P57103-1", "PR:P57103-1", "ENSEMBL:ENSP00000370669", "ENSEMBL:ENSP00000370669.2"], "information_content": 100.0}
{"id": "NCBIGene:100287284", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MANSC4", "equivalent_identifiers": ["NCBIGene:100287284", "ENSEMBL:ENSG00000205693", "HGNC:40023", "UMLS:C3147768", "UniProtKB:A6NHS7", "PR:A6NHS7", "ENSEMBL:ENSP00000370673", "ENSEMBL:ENSP00000370673.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NV70-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exocyst complex component 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NV70-1", "PR:Q9NV70-1", "ENSEMBL:ENSP00000326514", "ENSEMBL:ENSP00000326514.7", "ENSEMBL:ENSP00000370695", "ENSEMBL:ENSP00000370695.2"], "information_content": 100.0}
{"id": "NCBIGene:286530", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "P2RY8", "equivalent_identifiers": ["NCBIGene:286530", "ENSEMBL:ENSG00000182162", "HGNC:15524", "OMIM:300525", "UMLS:C1423554", "UniProtKB:Q86VZ1", "PR:Q86VZ1", "ENSEMBL:ENSP00000370697", "ENSEMBL:ENSP00000370697.4", "ENSEMBL:ENSP00000518611", "ENSEMBL:ENSP00000518611.1", "UMLS:C3273565", "MESH:C578279"], "information_content": 92.8}
{"id": "UniProtKB:P40189-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-6 receptor subunit beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P40189-1", "PR:P40189-1", "ENSEMBL:ENSP00000370698", "ENSEMBL:ENSP00000370698.2", "ENSEMBL:ENSP00000462158", "ENSEMBL:ENSP00000462158.1", "ENSEMBL:ENSP00000513858", "ENSEMBL:ENSP00000513858.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9H3R0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase 4C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3R0-1", "PR:Q9H3R0-1", "ENSEMBL:ENSP00000370710", "ENSEMBL:ENSP00000370710.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NS39-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "double-stranded RNA-specific editase B2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NS39-1", "PR:Q9NS39-1", "ENSEMBL:ENSP00000370713", "ENSEMBL:ENSP00000370713.1"], "information_content": 100.0}
{"id": "UniProtKB:O95671-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95671-1", "PR:O95671-1", "ENSEMBL:ENSP00000370718", "ENSEMBL:ENSP00000370718.3", "ENSEMBL:ENSP00000518600", "ENSEMBL:ENSP00000518600.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15811-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intersectin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15811-1", "PR:Q15811-1", "ENSEMBL:ENSP00000370719", "ENSEMBL:ENSP00000370719.3"], "information_content": 100.0}
{"id": "NCBIGene:81553", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYRIA", "equivalent_identifiers": ["NCBIGene:81553", "ENSEMBL:ENSG00000197872", "HGNC:25373", "UMLS:C1539452", "UniProtKB:Q9H0Q0", "PR:Q9H0Q0", "ENSEMBL:ENSP00000370724", "ENSEMBL:ENSP00000370724.3", "ENSEMBL:ENSP00000384771", "ENSEMBL:ENSP00000384771.1", "UMLS:C5196843", "MESH:C000630216"], "information_content": 92.8}
{"id": "UniProtKB:Q9HC07-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative divalent cation/proton antiporter TMEM165 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HC07-1", "PR:Q9HC07-1", "ENSEMBL:ENSP00000370736", "ENSEMBL:ENSP00000370736.5"], "information_content": 100.0}
{"id": "NCBIGene:2731", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLDC", "equivalent_identifiers": ["NCBIGene:2731", "ENSEMBL:ENSG00000178445", "HGNC:4313", "OMIM:238300", "UMLS:C1415099", "UniProtKB:P23378", "PR:P23378", "ENSEMBL:ENSP00000370737", "ENSEMBL:ENSP00000370737.4"], "information_content": 90.9}
{"id": "UniProtKB:Q14571-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q14571-1", "PR:Q14571-1", "ENSEMBL:ENSP00000370744", "ENSEMBL:ENSP00000370744.3"], "information_content": 100.0}
{"id": "UniProtKB:Q92499-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent RNA helicase DDX1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92499-1", "PR:Q92499-1", "ENSEMBL:ENSP00000233084", "ENSEMBL:ENSP00000233084.3", "ENSEMBL:ENSP00000370745", "ENSEMBL:ENSP00000370745.1", "ENSEMBL:ENSP00000413767", "ENSEMBL:ENSP00000413767.2", "ENSEMBL:ENSP00000504080", "ENSEMBL:ENSP00000504080.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13907-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "isopentenyl-diphosphate Delta-isomerase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13907-2", "PR:Q13907-2", "ENSEMBL:ENSP00000370748", "ENSEMBL:ENSP00000370748.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TC12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinol dehydrogenase 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TC12-1", "PR:Q8TC12-1", "ENSEMBL:ENSP00000370750", "ENSEMBL:ENSP00000370750.4"], "information_content": 100.0}
{"id": "UniProtKB:P55259-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pancreatic secretory granule membrane major glycoprotein GP2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P55259-1", "PR:P55259-1", "ENSEMBL:ENSP00000370767", "ENSEMBL:ENSP00000370767.4"], "information_content": 100.0}
{"id": "NCBIGene:100130311", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C17orf107", "equivalent_identifiers": ["NCBIGene:100130311", "ENSEMBL:ENSG00000205710", "HGNC:37238", "UMLS:C2828931", "UniProtKB:Q6ZR85", "PR:Q6ZR85", "ENSEMBL:ENSP00000370770", "ENSEMBL:ENSP00000370770.3"], "information_content": 95.4}
{"id": "MONDO:0011801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1", "equivalent_identifiers": ["MONDO:0011801", "DOID:0090115", "OMIM:607250", "orphanet:94124", "UMLS:C4759870", "MESH:C537313", "SNOMEDCT:765091006", "medgen:1683470", "ICD10:G60.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86Y33-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell division cycle protein 20 homolog B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86Y33-1", "PR:Q86Y33-1", "ENSEMBL:ENSP00000370781", "ENSEMBL:ENSP00000370781.2"], "information_content": 100.0}
{"id": "NCBIGene:125997", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MBD3L2", "equivalent_identifiers": ["NCBIGene:125997", "ENSEMBL:ENSG00000230522", "HGNC:18532", "OMIM:607964", "UMLS:C1425580", "UniProtKB:Q8NHZ7", "PR:Q8NHZ7", "ENSEMBL:ENSP00000370800", "ENSEMBL:ENSP00000370800.2", "UMLS:C1258869", "MESH:C474632"], "information_content": 100.0}
{"id": "MONDO:0014114", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiofaciocutaneous syndrome 4", "equivalent_identifiers": ["MONDO:0014114", "DOID:0111463", "OMIM:615280", "UMLS:C3809007", "medgen:815337"], "information_content": 100.0}
{"id": "NCBIGene:653656", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MBD3L4", "equivalent_identifiers": ["NCBIGene:653656", "ENSEMBL:ENSG00000205718", "HGNC:37206", "UMLS:C3470941", "UniProtKB:A6NDZ8", "ENSEMBL:ENSP00000370801", "ENSEMBL:ENSP00000370801.4"]}
{"id": "UniProtKB:O43303-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centriolar coiled-coil protein of 110 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43303-1", "PR:O43303-1", "ENSEMBL:ENSP00000370803", "ENSEMBL:ENSP00000370803.5"], "information_content": 100.0}
{"id": "NCBIGene:293", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A6", "equivalent_identifiers": ["NCBIGene:293", "ENSEMBL:ENSG00000169100", "HGNC:10992", "OMIM:300151", "UMLS:C1335835", "UniProtKB:P12236", "PR:P12236", "ENSEMBL:ENSP00000370808", "ENSEMBL:ENSP00000370808.5", "ENSEMBL:ENSP00000518609", "ENSEMBL:ENSP00000518609.1", "UMLS:C3887626", "UniProtKB:Q6I9V5"], "information_content": 90.9}
{"id": "UniProtKB:Q9NQ30-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endothelial cell-specific molecule 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ30-1", "PR:Q9NQ30-1", "ENSEMBL:ENSP00000370812", "ENSEMBL:ENSP00000370812.4"], "information_content": 100.0}
{"id": "UniProtKB:O43593-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase hairless isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43593-1", "PR:O43593-1", "ENSEMBL:ENSP00000370826", "ENSEMBL:ENSP00000370826.4", "ENSEMBL:ENSP00000505181", "ENSEMBL:ENSP00000505181.1"], "information_content": 100.0}
{"id": "MONDO:0003679", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anteroseptal myocardial infarction", "equivalent_identifiers": ["MONDO:0003679", "DOID:5855", "UMLS:C0262565", "medgen:78087"], "information_content": 100.0}
{"id": "UniProtKB:Q16585-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-sarcoglycan isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16585-1", "PR:Q16585-1", "ENSEMBL:ENSP00000370839", "ENSEMBL:ENSP00000370839.6"], "information_content": 100.0}
{"id": "UniProtKB:O95760-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-33 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95760-1", "PR:O95760-1", "ENSEMBL:ENSP00000370842", "ENSEMBL:ENSP00000370842.3", "ENSEMBL:ENSP00000507310", "ENSEMBL:ENSP00000507310.1"], "information_content": 100.0}
{"id": "NCBIGene:162073", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITPRIPL2", "equivalent_identifiers": ["NCBIGene:162073", "ENSEMBL:ENSG00000205730", "HGNC:27257", "UMLS:C2681621", "UniProtKB:Q3MIP1", "PR:Q3MIP1", "ENSEMBL:ENSP00000370849", "ENSEMBL:ENSP00000370849.3"], "information_content": 95.4}
{"id": "NCBIGene:7053", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGM3", "equivalent_identifiers": ["NCBIGene:7053", "ENSEMBL:ENSG00000125780", "HGNC:11779", "OMIM:600238", "UMLS:C1420715", "UniProtKB:Q08188", "PR:Q08188", "ENSEMBL:ENSP00000370867", "ENSEMBL:ENSP00000370867.5", "UMLS:C1453440", "MESH:C498712"], "information_content": 95.4}
{"id": "UniProtKB:Q9NX40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "OCIA domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NX40-1", "PR:Q9NX40-1", "ENSEMBL:ENSP00000264312", "ENSEMBL:ENSP00000264312.7", "ENSEMBL:ENSP00000370882", "ENSEMBL:ENSP00000370882.3", "ENSEMBL:ENSP00000423002", "ENSEMBL:ENSP00000423002.1", "ENSEMBL:ENSP00000423909", "ENSEMBL:ENSP00000423909.2"], "information_content": 100.0}
{"id": "NCBIGene:2315", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MLANA", "equivalent_identifiers": ["NCBIGene:2315", "ENSEMBL:ENSG00000120215", "HGNC:7124", "OMIM:605513", "UMLS:C1334510", "UniProtKB:A0A384MR46", "UniProtKB:Q16655", "PR:Q16655", "ENSEMBL:ENSP00000370880", "ENSEMBL:ENSP00000370880.1", "ENSEMBL:ENSP00000370885", "ENSEMBL:ENSP00000370885.1", "ENSEMBL:ENSP00000370886", "ENSEMBL:ENSP00000370886.3", "UMLS:C1744226", "MESH:C548667"], "information_content": 95.4}
{"id": "UniProtKB:Q4ZG55-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein GREB1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4ZG55-1", "PR:Q4ZG55-1", "ENSEMBL:ENSP00000234142", "ENSEMBL:ENSP00000234142.5", "ENSEMBL:ENSP00000370896", "ENSEMBL:ENSP00000370896.2"], "information_content": 100.0}
{"id": "NCBIGene:7006", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEC", "equivalent_identifiers": ["NCBIGene:7006", "ENSEMBL:ENSG00000135605", "HGNC:11719", "OMIM:600583", "UMLS:C1336601", "UniProtKB:P42680", "PR:P42680", "ENSEMBL:ENSP00000370912", "ENSEMBL:ENSP00000370912.3", "UMLS:C1690838"], "information_content": 90.9}
{"id": "UniProtKB:O75461-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor E2F6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75461-1", "PR:O75461-1", "ENSEMBL:ENSP00000370936", "ENSEMBL:ENSP00000370936.3"], "information_content": 100.0}
{"id": "UniProtKB:P49336-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49336-1", "PR:P49336-1", "ENSEMBL:ENSP00000370938", "ENSEMBL:ENSP00000370938.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6W5P4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuropeptide S receptor isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6W5P4-3", "PR:Q6W5P4-3", "ENSEMBL:ENSP00000370950", "ENSEMBL:ENSP00000370950.3"], "information_content": 100.0}
{"id": "NCBIGene:124975", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GGT6", "equivalent_identifiers": ["NCBIGene:124975", "ENSEMBL:ENSG00000167741", "HGNC:26891", "OMIM:612341", "UMLS:C1825344", "UniProtKB:B4DKN3", "UniProtKB:B4DPG6", "ENSEMBL:ENSP00000461230", "ENSEMBL:ENSP00000461230.1", "UniProtKB:J3KPJ0", "ENSEMBL:ENSP00000370962", "ENSEMBL:ENSP00000370962.3", "UniProtKB:Q6P531", "PR:Q6P531", "UniProtKB:Q6ZPD7"]}
{"id": "UniProtKB:O95825-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "quinone oxidoreductase-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95825-1", "PR:O95825-1", "ENSEMBL:ENSP00000370966", "ENSEMBL:ENSP00000370966.3"], "information_content": 100.0}
{"id": "MONDO:0013718", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 13", "equivalent_identifiers": ["MONDO:0013718", "DOID:0111121", "OMIM:614377", "UMLS:C3280612", "medgen:482242"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQG0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Myb-binding protein 1A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQG0-2", "PR:Q9BQG0-2", "ENSEMBL:ENSP00000370968", "ENSEMBL:ENSP00000370968.2"], "information_content": 100.0}
{"id": "UniProtKB:P45378-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "troponin T, fast skeletal muscle isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P45378-3", "PR:P45378-3", "ENSEMBL:ENSP00000370975", "ENSEMBL:ENSP00000370975.4", "ENSEMBL:ENSP00000500705", "ENSEMBL:ENSP00000500705.1"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000370980", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000370980", "equivalent_identifiers": ["ENSEMBL:ENSP00000370980"]}
{"id": "UniProtKB:Q9Y250-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine zipper putative tumor suppressor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y250-1", "PR:Q9Y250-1", "ENSEMBL:ENSP00000265801", "ENSEMBL:ENSP00000265801.6", "ENSEMBL:ENSP00000370981", "ENSEMBL:ENSP00000370981.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZQ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "programmed cell death 1 ligand 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZQ7-1", "PR:Q9NZQ7-1", "ENSEMBL:ENSP00000370989", "ENSEMBL:ENSP00000370989.3"], "information_content": 100.0}
{"id": "UniProtKB:O15266-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "short stature homeobox protein isoform SHOXA (human)", "equivalent_identifiers": ["UniProtKB:O15266-1", "PR:O15266-1", "ENSEMBL:ENSP00000370990", "ENSEMBL:ENSP00000370990.1", "ENSEMBL:ENSP00000508521", "ENSEMBL:ENSP00000508521.1", "ENSEMBL:ENSP00000518640", "ENSEMBL:ENSP00000518640.1", "ENSEMBL:ENSP00000518642", "ENSEMBL:ENSP00000518642.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y252-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y252-1", "PR:Q9Y252-1", "ENSEMBL:ENSP00000342121", "ENSEMBL:ENSP00000342121.3", "ENSEMBL:ENSP00000370982", "ENSEMBL:ENSP00000370982.3", "ENSEMBL:ENSP00000371000", "ENSEMBL:ENSP00000371000.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15326-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger MYND domain-containing protein 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15326-1", "PR:Q15326-1", "ENSEMBL:ENSP00000371003", "ENSEMBL:ENSP00000371003.1", "ENSEMBL:ENSP00000371017", "ENSEMBL:ENSP00000371017.6", "ENSEMBL:ENSP00000381053", "ENSEMBL:ENSP00000381053.3", "ENSEMBL:ENSP00000515825", "ENSEMBL:ENSP00000515825.1"], "information_content": 100.0}
{"id": "UniProtKB:O00241-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal-regulatory protein beta-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00241-1", "PR:O00241-1", "ENSEMBL:ENSP00000371018", "ENSEMBL:ENSP00000371018.5"], "information_content": 100.0}
{"id": "UniProtKB:Q86XM0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cation channel sperm-associated auxiliary subunit delta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XM0-1", "PR:Q86XM0-1", "ENSEMBL:ENSP00000371037", "ENSEMBL:ENSP00000371037.3"], "information_content": 100.0}
{"id": "UniProtKB:P04090-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prorelaxin H2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P04090-1", "PR:P04090-1", "ENSEMBL:ENSP00000371040", "ENSEMBL:ENSP00000371040.3"], "information_content": 100.0}
{"id": "NCBIGene:11172", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INSL6", "equivalent_identifiers": ["NCBIGene:11172", "ENSEMBL:ENSG00000120210", "HGNC:6089", "OMIM:606414", "UMLS:C1416456", "UniProtKB:Q9Y581", "PR:Q9Y581", "ENSEMBL:ENSP00000371054", "ENSEMBL:ENSP00000371054.3", "UMLS:C1570874", "MESH:C512663"], "information_content": 100.0}
{"id": "NCBIGene:285636", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RIMOC1", "equivalent_identifiers": ["NCBIGene:285636", "ENSEMBL:ENSG00000205765", "HGNC:27750", "OMIM:620266", "UMLS:C2681236", "UniProtKB:A6NDU8", "PR:A6NDU8", "ENSEMBL:ENSP00000371061", "ENSEMBL:ENSP00000371061.2"], "information_content": 90.9}
{"id": "MONDO:0011350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 17", "equivalent_identifiers": ["MONDO:0011350", "DOID:0110548", "OMIM:603622", "UMLS:C1863659", "UMLS:C1863660", "medgen:350942"], "information_content": 100.0}
{"id": "NCBIGene:3717", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JAK2", "equivalent_identifiers": ["NCBIGene:3717", "ENSEMBL:ENSG00000096968", "HGNC:6192", "OMIM:147796", "UMLS:C1334291", "UniProtKB:A8K910", "UniProtKB:B4DYV1", "UniProtKB:O60674", "PR:O60674", "ENSEMBL:ENSP00000371067", "ENSEMBL:ENSP00000371067.4", "UMLS:C1527617", "MESH:C507924"], "information_content": 85.5}
{"id": "UniProtKB:Q9NTI2-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid-transporting ATPase IB isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NTI2-4", "PR:Q9NTI2-4", "ENSEMBL:ENSP00000371070", "ENSEMBL:ENSP00000371070.2"], "information_content": 100.0}
{"id": "NCBIGene:55344", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLCXD1", "equivalent_identifiers": ["NCBIGene:55344", "ENSEMBL:ENSG00000182378", "HGNC:23148", "OMIM:300974", "UMLS:C1538665", "UniProtKB:Q9NUJ7", "PR:Q9NUJ7", "ENSEMBL:ENSP00000371073", "ENSEMBL:ENSP00000371073.2", "ENSEMBL:ENSP00000381976", "ENSEMBL:ENSP00000381976.1", "ENSEMBL:ENSP00000518594", "ENSEMBL:ENSP00000518594.1", "ENSEMBL:ENSP00000518661", "ENSEMBL:ENSP00000518661.1"], "information_content": 88.2}
{"id": "UniProtKB:Q9Y2Q0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid-transporting ATPase IA isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2Q0-1", "PR:Q9Y2Q0-1", "ENSEMBL:ENSP00000371084", "ENSEMBL:ENSP00000371084.5"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BAR/IMD domain-containing adapter protein 2-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXY1-1", "PR:Q6UXY1-1", "ENSEMBL:ENSP00000371085", "ENSEMBL:ENSP00000371085.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSC4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolar protein 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSC4-1", "PR:Q9BSC4-1", "ENSEMBL:ENSP00000371101", "ENSEMBL:ENSP00000371101.5"], "information_content": 100.0}
{"id": "UniProtKB:O75600-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75600-2", "PR:O75600-2", "ENSEMBL:ENSP00000371110", "ENSEMBL:ENSP00000371110.3"], "information_content": 100.0}
{"id": "NCBIGene:728130", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUTM2D", "equivalent_identifiers": ["NCBIGene:728130", "ENSEMBL:ENSG00000214562", "HGNC:23447", "UMLS:C3542196", "UniProtKB:A0A075B6P9", "ENSEMBL:ENSP00000396080", "ENSEMBL:ENSP00000396080.1", "UniProtKB:Q5VT03", "PR:Q5VT03", "ENSEMBL:ENSP00000371116", "ENSEMBL:ENSP00000371116.1", "UMLS:C5575368"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVF1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NUT family member 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVF1-1", "PR:Q8IVF1-1", "ENSEMBL:ENSP00000371126", "ENSEMBL:ENSP00000371126.1"], "information_content": 100.0}
{"id": "MONDO:0006853", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mesenchymal chondrosarcoma", "equivalent_identifiers": ["MONDO:0006853", "DOID:4545", "EFO:1001041", "UMLS:C0206637", "MESH:D018211", "MEDDRA:10027389", "NCIT:C3737", "SNOMEDCT:1290898006", "SNOMEDCT:56565002", "medgen:104904"], "information_content": 87.2}
{"id": "UniProtKB:Q9NP66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "high mobility group protein 20A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP66-1", "PR:Q9NP66-1", "ENSEMBL:ENSP00000336856", "ENSEMBL:ENSP00000336856.4", "ENSEMBL:ENSP00000371133", "ENSEMBL:ENSP00000371133.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13510-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acid ceramidase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13510-2", "PR:Q13510-2", "ENSEMBL:ENSP00000371152", "ENSEMBL:ENSP00000371152.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BVL2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoporin p58/p45 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVL2-1", "PR:Q9BVL2-1", "ENSEMBL:ENSP00000371155", "ENSEMBL:ENSP00000371155.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2P8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA 3'-terminal phosphate cyclase-like protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2P8-1", "PR:Q9Y2P8-1", "ENSEMBL:ENSP00000371169", "ENSEMBL:ENSP00000371169.4"], "information_content": 100.0}
{"id": "MONDO:0014827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive spastic paraplegia type 76", "equivalent_identifiers": ["MONDO:0014827", "DOID:0110821", "OMIM:616907", "orphanet:488594", "EFO:0009019", "UMLS:C5567483", "SNOMEDCT:1172631001", "medgen:1798906"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJY5-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor-binding protein GGA1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJY5-6", "PR:Q9UJY5-6", "ENSEMBL:ENSP00000371175", "ENSEMBL:ENSP00000371175.5"], "information_content": 100.0}
{"id": "NCBIGene:117155", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CATSPER2", "equivalent_identifiers": ["NCBIGene:117155", "ENSEMBL:ENSG00000166762", "HGNC:18810", "OMIM:607249", "UMLS:C1425793", "UniProtKB:F8W9H2", "ENSEMBL:ENSP00000371180", "ENSEMBL:ENSP00000371180.1", "UMLS:C1435958", "MESH:C482695", "UniProtKB:Q96P56", "PR:Q96P56"]}
{"id": "NCBIGene:84254", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAMKK1", "equivalent_identifiers": ["NCBIGene:84254", "ENSEMBL:ENSG00000004660", "HGNC:1469", "OMIM:611411", "UMLS:C1413104", "UniProtKB:J3KPJ3", "ENSEMBL:ENSP00000371188", "ENSEMBL:ENSP00000371188.2", "UMLS:C1872252", "MESH:C517695", "UniProtKB:Q8N5S9", "PR:Q8N5S9"]}
{"id": "MONDO:0010907", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hypertryptophanemia", "equivalent_identifiers": ["MONDO:0010907", "DOID:0111703", "OMIM:600627", "orphanet:2224", "UMLS:C2931837", "MESH:C538393", "MESH:C563467", "SNOMEDCT:721838005", "medgen:419177"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRF8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase CPPED1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRF8-1", "PR:Q9BRF8-1", "ENSEMBL:ENSP00000371193", "ENSEMBL:ENSP00000371193.4"], "information_content": 100.0}
{"id": "UniProtKB:P33241-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphocyte-specific protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P33241-3", "PR:P33241-3", "ENSEMBL:ENSP00000371194", "ENSEMBL:ENSP00000371194.1", "ENSEMBL:ENSP00000500923", "ENSEMBL:ENSP00000500923.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NE18-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative methyltransferase NSUN7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NE18-1", "PR:Q8NE18-1", "ENSEMBL:ENSP00000371201", "ENSEMBL:ENSP00000371201.2"], "information_content": 100.0}
{"id": "MONDO:0021637", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "low grade glioma", "equivalent_identifiers": ["MONDO:0021637", "DOID:0080829", "UMLS:C1997217", "NCIT:C132067", "SNOMEDCT:428954009", "medgen:744283"], "information_content": 66.3}
{"id": "NCBIGene:399", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHOH", "equivalent_identifiers": ["NCBIGene:399", "ENSEMBL:ENSG00000168421", "HGNC:686", "OMIM:602037", "UMLS:C1332112", "UniProtKB:Q15669", "PR:Q15669", "ENSEMBL:ENSP00000371219", "ENSEMBL:ENSP00000371219.4", "ENSEMBL:ENSP00000420866", "ENSEMBL:ENSP00000420866.2", "ENSEMBL:ENSP00000422241", "ENSEMBL:ENSP00000422241.2", "ENSEMBL:ENSP00000423384", "ENSEMBL:ENSP00000423384.2", "ENSEMBL:ENSP00000425010", "ENSEMBL:ENSP00000425010.1", "ENSEMBL:ENSP00000426439", "ENSEMBL:ENSP00000426439.2", "ENSEMBL:ENSP00000478248", "ENSEMBL:ENSP00000478248.1", "ENSEMBL:ENSP00000514769", "ENSEMBL:ENSP00000514769.1", "ENSEMBL:ENSP00000514770", "ENSEMBL:ENSP00000514770.1", "ENSEMBL:ENSP00000514771", "ENSEMBL:ENSP00000514771.1", "ENSEMBL:ENSP00000514772", "ENSEMBL:ENSP00000514772.1", "ENSEMBL:ENSP00000514773", "ENSEMBL:ENSP00000514773.1", "ENSEMBL:ENSP00000514774", "ENSEMBL:ENSP00000514774.1", "ENSEMBL:ENSP00000514775", "ENSEMBL:ENSP00000514775.1", "UMLS:C1120576", "MESH:C447841", "UniProtKB:Q6ICP4"], "information_content": 90.9}
{"id": "UniProtKB:Q9Y217-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y217-1", "PR:Q9Y217-1", "ENSEMBL:ENSP00000371221", "ENSEMBL:ENSP00000371221.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UIJ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTP:AMP phosphotransferase AK3, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIJ7-1", "PR:Q9UIJ7-1", "ENSEMBL:ENSP00000371230", "ENSEMBL:ENSP00000371230.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H190-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntenin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H190-1", "PR:Q9H190-1", "ENSEMBL:ENSP00000342935", "ENSEMBL:ENSP00000342935.3", "ENSEMBL:ENSP00000354013", "ENSEMBL:ENSP00000354013.3", "ENSEMBL:ENSP00000371233", "ENSEMBL:ENSP00000371233.1"], "information_content": 100.0}
{"id": "NCBIGene:192668", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYS1", "equivalent_identifiers": ["NCBIGene:192668", "ENSEMBL:ENSG00000205795", "HGNC:18525", "OMIM:618713", "UMLS:C1425577", "UniProtKB:Q717R9", "PR:Q717R9", "ENSEMBL:ENSP00000371234", "ENSEMBL:ENSP00000371234.4", "UMLS:C1571689", "MESH:C482294"], "information_content": 95.4}
{"id": "UniProtKB:P22102-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trifunctional purine biosynthetic protein adenosine-3 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P22102-1", "PR:P22102-1", "ENSEMBL:ENSP00000371236", "ENSEMBL:ENSP00000371236.4", "ENSEMBL:ENSP00000371253", "ENSEMBL:ENSP00000371253.3", "ENSEMBL:ENSP00000371261", "ENSEMBL:ENSP00000371261.3"], "information_content": 100.0}
{"id": "NCBIGene:10971", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YWHAQ", "equivalent_identifiers": ["NCBIGene:10971", "ENSEMBL:ENSG00000134308", "HGNC:12854", "OMIM:609009", "UMLS:C1421563", "UniProtKB:P27348", "PR:P27348", "ENSEMBL:ENSP00000238081", "ENSEMBL:ENSP00000238081.3", "ENSEMBL:ENSP00000371267", "ENSEMBL:ENSP00000371267.4", "UMLS:C1458135"], "information_content": 88.2}
{"id": "NCBIGene:440503", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLIN5", "equivalent_identifiers": ["NCBIGene:440503", "ENSEMBL:ENSG00000214456", "HGNC:33196", "OMIM:613248", "UMLS:C2750470", "UniProtKB:Q00G26", "PR:Q00G26", "ENSEMBL:ENSP00000371272", "ENSEMBL:ENSP00000371272.2", "UMLS:C2743763", "MESH:C544352"], "information_content": 100.0}
{"id": "NCBIGene:55664", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC37L1", "equivalent_identifiers": ["NCBIGene:55664", "ENSEMBL:ENSG00000106993", "HGNC:17179", "OMIM:610346", "UMLS:C1540301", "UniProtKB:Q7L3B6", "PR:Q7L3B6", "ENSEMBL:ENSP00000371278", "ENSEMBL:ENSP00000371278.3", "UMLS:C1570353", "MESH:C501510"], "information_content": 100.0}
{"id": "UniProtKB:O15079-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaphilin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15079-2", "PR:O15079-2", "ENSEMBL:ENSP00000371291", "ENSEMBL:ENSP00000371291.1", "ENSEMBL:ENSP00000479696", "ENSEMBL:ENSP00000479696.1"], "information_content": 100.0}
{"id": "UniProtKB:O60931-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cystinosin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60931-2", "PR:O60931-2", "ENSEMBL:ENSP00000371294", "ENSEMBL:ENSP00000371294.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9HC77-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal P4.1-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HC77-1", "PR:Q9HC77-1", "ENSEMBL:ENSP00000371308", "ENSEMBL:ENSP00000371308.4"], "information_content": 100.0}
{"id": "NCBIGene:55321", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM74B", "equivalent_identifiers": ["NCBIGene:55321", "ENSEMBL:ENSG00000125895", "HGNC:15893", "UMLS:C3470004", "UniProtKB:Q9NUR3", "PR:Q9NUR3", "ENSEMBL:ENSP00000371318", "ENSEMBL:ENSP00000371318.3", "ENSEMBL:ENSP00000400552", "ENSEMBL:ENSP00000400552.2", "UMLS:C4761477"], "information_content": 100.0}
{"id": "UniProtKB:P35251-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "replication factor C subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35251-1", "PR:P35251-1", "ENSEMBL:ENSP00000371321", "ENSEMBL:ENSP00000371321.1"], "information_content": 100.0}
{"id": "NCBIGene:3822", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLRC2", "equivalent_identifiers": ["NCBIGene:3822", "ENSEMBL:ENSG00000205809", "HGNC:6375", "OMIM:602891", "UMLS:C1416683", "UniProtKB:P26717", "PR:P26717", "ENSEMBL:ENSP00000371327", "ENSEMBL:ENSP00000371327.2", "UMLS:C1721201", "MESH:C527059"], "information_content": 100.0}
{"id": "UniProtKB:Q07444-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NKG2-E type II integral membrane protein isoform hNKG2-H (human)", "equivalent_identifiers": ["UniProtKB:Q07444-2", "PR:Q07444-2", "ENSEMBL:ENSP00000371328", "ENSEMBL:ENSP00000371328.2"], "information_content": 100.0}
{"id": "UniProtKB:P48788-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "troponin I, fast skeletal muscle isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48788-1", "PR:P48788-1", "ENSEMBL:ENSP00000252898", "ENSEMBL:ENSP00000252898.7", "ENSEMBL:ENSP00000371331", "ENSEMBL:ENSP00000371331.1", "ENSEMBL:ENSP00000371336", "ENSEMBL:ENSP00000371336.1", "ENSEMBL:ENSP00000500044", "ENSEMBL:ENSP00000500044.1", "ENSEMBL:ENSP00000500698", "ENSEMBL:ENSP00000500698.1", "ENSEMBL:ENSP00000500770", "ENSEMBL:ENSP00000500770.1"], "information_content": 100.0}
{"id": "NCBIGene:10188", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNK2", "equivalent_identifiers": ["NCBIGene:10188", "ENSEMBL:ENSG00000061938", "HGNC:19297", "OMIM:606994", "UMLS:C1540033", "UniProtKB:A0A499FJ16", "ENSEMBL:ENSP00000371341", "ENSEMBL:ENSP00000371341.2", "UniProtKB:A0A5F9ZGX5", "ENSEMBL:ENSP00000499899", "ENSEMBL:ENSP00000499899.1", "UniProtKB:A0A5F9ZHJ2", "ENSEMBL:ENSP00000500452", "ENSEMBL:ENSP00000500452.1", "ENSEMBL:ENSP00000503221", "ENSEMBL:ENSP00000503221.1", "UniProtKB:A0A5F9ZHP4", "ENSEMBL:ENSP00000500486", "ENSEMBL:ENSP00000500486.1", "UniProtKB:A0A5F9ZI29", "ENSEMBL:ENSP00000500887", "ENSEMBL:ENSP00000500887.1", "UniProtKB:B3KXJ4", "UniProtKB:C9J1X3", "ENSEMBL:ENSP00000392546", "ENSEMBL:ENSP00000392546.1", "UniProtKB:Q07912", "PR:Q07912", "UMLS:C1449330", "MESH:C403262"]}
{"id": "UniProtKB:Q9BUU2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methyltransferase-like protein 22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUU2-1", "PR:Q9BUU2-1", "ENSEMBL:ENSP00000371345", "ENSEMBL:ENSP00000371345.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y264-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "angiopoietin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y264-1", "PR:Q9Y264-1", "ENSEMBL:ENSP00000371347", "ENSEMBL:ENSP00000371347.3"], "information_content": 100.0}
{"id": "UniProtKB:Q4KMG9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 52B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4KMG9-1", "PR:Q4KMG9-1", "ENSEMBL:ENSP00000371348", "ENSEMBL:ENSP00000371348.2", "ENSEMBL:ENSP00000445582", "ENSEMBL:ENSP00000445582.2"], "information_content": 100.0}
{"id": "UniProtKB:Q4G0N4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NAD kinase 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4G0N4-1", "PR:Q4G0N4-1", "ENSEMBL:ENSP00000371362", "ENSEMBL:ENSP00000371362.4"], "information_content": 100.0}
{"id": "NCBIGene:140809", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRXN1", "equivalent_identifiers": ["NCBIGene:140809", "ENSEMBL:ENSG00000271303", "HGNC:16132", "OMIM:617583", "UMLS:C1823127", "UniProtKB:Q9BYN0", "PR:Q9BYN0", "ENSEMBL:ENSP00000371388", "ENSEMBL:ENSP00000371388.4", "UMLS:C1609329", "UMLS:C4721866", "MESH:C504024"], "information_content": 95.4}
{"id": "UniProtKB:Q96G03-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphopentomutase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96G03-1", "PR:Q96G03-1", "ENSEMBL:ENSP00000371393", "ENSEMBL:ENSP00000371393.4"], "information_content": 100.0}
{"id": "NCBIGene:131583", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM43A", "equivalent_identifiers": ["NCBIGene:131583", "ENSEMBL:ENSG00000185112", "HGNC:26888", "UMLS:C1539436", "UniProtKB:Q8N2R8", "PR:Q8N2R8", "ENSEMBL:ENSP00000371397", "ENSEMBL:ENSP00000371397.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEA6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein GLIS3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEA6-2", "PR:Q8NEA6-2", "ENSEMBL:ENSP00000371398", "ENSEMBL:ENSP00000371398.3"], "information_content": 100.0}
{"id": "NCBIGene:143", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PARP4", "equivalent_identifiers": ["NCBIGene:143", "ENSEMBL:ENSG00000102699", "HGNC:271", "OMIM:607519", "UMLS:C1538582", "UniProtKB:Q9UKK3", "PR:Q9UKK3", "ENSEMBL:ENSP00000371419", "ENSEMBL:ENSP00000371419.3", "UMLS:C1309034", "MESH:C118687"], "information_content": 83.1}
{"id": "UniProtKB:Q14956-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane glycoprotein NMB isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14956-1", "PR:Q14956-1", "ENSEMBL:ENSP00000371420", "ENSEMBL:ENSP00000371420.2"], "information_content": 100.0}
{"id": "NCBIGene:3460", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFNGR2", "equivalent_identifiers": ["NCBIGene:3460", "ENSEMBL:ENSG00000159128", "HGNC:5440", "OMIM:147569", "UMLS:C1334084", "UniProtKB:A8K881", "UniProtKB:E7EUY1", "ENSEMBL:ENSP00000371425", "ENSEMBL:ENSP00000371425.1", "UniProtKB:P38484", "PR:P38484", "ENSEMBL:ENSP00000290219", "ENSEMBL:ENSP00000290219.5", "ENSEMBL:ENSP00000458487", "ENSEMBL:ENSP00000458487.2", "UMLS:C0252549", "MESH:C086185"]}
{"id": "UniProtKB:P48380-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor RFX3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48380-1", "PR:P48380-1", "ENSEMBL:ENSP00000371434", "ENSEMBL:ENSP00000371434.3", "ENSEMBL:ENSP00000482598", "ENSEMBL:ENSP00000482598.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5F1R6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily C member 21 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5F1R6-2", "PR:Q5F1R6-2", "ENSEMBL:ENSP00000371451", "ENSEMBL:ENSP00000371451.2"], "information_content": 100.0}
{"id": "UniProtKB:O60671-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell cycle checkpoint protein RAD1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60671-1", "PR:O60671-1", "ENSEMBL:ENSP00000340879", "ENSEMBL:ENSP00000340879.4", "ENSEMBL:ENSP00000371469", "ENSEMBL:ENSP00000371469.2"], "information_content": 100.0}
{"id": "NCBIGene:91543", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RSAD2", "equivalent_identifiers": ["NCBIGene:91543", "ENSEMBL:ENSG00000134321", "HGNC:30908", "OMIM:607810", "UMLS:C1539703", "UniProtKB:C9J674", "ENSEMBL:ENSP00000406427", "ENSEMBL:ENSP00000406427.2", "UniProtKB:Q8WXG1", "PR:Q8WXG1", "ENSEMBL:ENSP00000371471", "ENSEMBL:ENSP00000371471.3", "ENSEMBL:ENSP00000506390", "ENSEMBL:ENSP00000506390.1", "UMLS:C1100741", "MESH:C444427"], "information_content": 95.4}
{"id": "UniProtKB:Q8N4C6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ninein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4C6-1", "PR:Q8N4C6-1", "ENSEMBL:ENSP00000371472", "ENSEMBL:ENSP00000371472.3"], "information_content": 100.0}
{"id": "UniProtKB:Q12888-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TP53-binding protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q12888-2", "PR:Q12888-2", "ENSEMBL:ENSP00000371475", "ENSEMBL:ENSP00000371475.5"], "information_content": 100.0}
{"id": "UniProtKB:O95436-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium-dependent phosphate transport protein 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95436-1", "PR:O95436-1", "ENSEMBL:ENSP00000371483", "ENSEMBL:ENSP00000371483.3"], "information_content": 100.0}
{"id": "MONDO:0006965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "secondary hypertrophic osteoarthropathy", "equivalent_identifiers": ["MONDO:0006965", "DOID:10393", "EFO:1001174", "UMLS:C0029412", "UMLS:C0178703", "MESH:D010005", "MEDDRA:10020877", "MEDDRA:10020878", "MEDDRA:10037428", "MEDDRA:10068640", "SNOMEDCT:203357004", "medgen:18211", "icd11.foundation:1325516156", "ICD10:M89.4", "ICD9:731.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXJ4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complement C1q tumor necrosis factor-related protein 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXJ4-3", "PR:Q9BXJ4-3", "ENSEMBL:ENSP00000371497", "ENSEMBL:ENSP00000371497.3"], "information_content": 100.0}
{"id": "NCBIGene:338872", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1QTNF9", "equivalent_identifiers": ["NCBIGene:338872", "ENSEMBL:ENSG00000240654", "HGNC:28732", "OMIM:614285", "UMLS:C1823202", "UniProtKB:P0C862", "PR:P0C862", "ENSEMBL:ENSP00000333737", "ENSEMBL:ENSP00000333737.4", "ENSEMBL:ENSP00000371503", "ENSEMBL:ENSP00000371503.2"], "information_content": 95.4}
{"id": "UniProtKB:Q6EIG7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 6 member A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6EIG7-1", "PR:Q6EIG7-1", "ENSEMBL:ENSP00000371505", "ENSEMBL:ENSP00000371505.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96LD1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zeta-sarcoglycan isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96LD1-2", "PR:Q96LD1-2", "ENSEMBL:ENSP00000371512", "ENSEMBL:ENSP00000371512.1"], "information_content": 100.0}
{"id": "NCBIGene:169522", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNV2", "equivalent_identifiers": ["NCBIGene:169522", "ENSEMBL:ENSG00000168263", "HGNC:19698", "OMIM:607604", "UMLS:C1426343", "UniProtKB:Q8TDN2", "PR:Q8TDN2", "ENSEMBL:ENSP00000371514", "ENSEMBL:ENSP00000371514.3", "UMLS:C1433270", "MESH:C489610"], "information_content": 86.3}
{"id": "UniProtKB:Q9UHK6-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-methylacyl-CoA racemase isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHK6-5", "PR:Q9UHK6-5", "ENSEMBL:ENSP00000371517", "ENSEMBL:ENSP00000371517.3"], "information_content": 100.0}
{"id": "NCBIGene:150297", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C22orf42", "equivalent_identifiers": ["NCBIGene:150297", "ENSEMBL:ENSG00000205856", "HGNC:27160", "UMLS:C2681320", "UniProtKB:Q6IC83", "PR:Q6IC83", "ENSEMBL:ENSP00000371529", "ENSEMBL:ENSP00000371529.3"], "information_content": 95.4}
{"id": "UniProtKB:P98155-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "very low-density lipoprotein receptor isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P98155-1", "PR:P98155-1", "ENSEMBL:ENSP00000371532", "ENSEMBL:ENSP00000371532.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9HD40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "O-phosphoseryl-tRNA(Sec) selenium transferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HD40-1", "PR:Q9HD40-1", "ENSEMBL:ENSP00000371535", "ENSEMBL:ENSP00000371535.2"], "information_content": 100.0}
{"id": "NCBIGene:55203", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LGI2", "equivalent_identifiers": ["NCBIGene:55203", "ENSEMBL:ENSG00000153012", "HGNC:18710", "OMIM:608301", "UMLS:C1425729", "UniProtKB:Q8N0V4", "PR:Q8N0V4", "ENSEMBL:ENSP00000371548", "ENSEMBL:ENSP00000371548.4", "UMLS:C1136853", "MESH:C456923"], "information_content": 95.4}
{"id": "NCBIGene:6649", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOD3", "equivalent_identifiers": ["NCBIGene:6649", "ENSEMBL:ENSG00000109610", "HGNC:11181", "OMIM:185490", "UMLS:C1420308", "UniProtKB:A0A140VJU8", "UniProtKB:P08294", "PR:P08294", "ENSEMBL:ENSP00000371554", "ENSEMBL:ENSP00000371554.3", "UMLS:C1099812", "MESH:C441642"], "information_content": 92.8}
{"id": "MONDO:0024608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dientamoebiasis", "equivalent_identifiers": ["MONDO:0024608", "DOID:946", "UMLS:C0012147", "UMLS:C0411268", "MESH:D004030", "MEDDRA:10022713", "MEDDRA:10044621", "MEDDRA:10079022", "MEDDRA:10079030", "SNOMEDCT:67915005", "medgen:41551"], "information_content": 100.0}
{"id": "UniProtKB:B2RNN3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complement C1q and tumor necrosis factor-related protein 9B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:B2RNN3-1", "PR:B2RNN3-1", "ENSEMBL:ENSP00000371572", "ENSEMBL:ENSP00000371572.3", "ENSEMBL:ENSP00000518885", "ENSEMBL:ENSP00000518885.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0I1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myotubularin-related protein 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0I1-1", "PR:Q9C0I1-1", "ENSEMBL:ENSP00000371577", "ENSEMBL:ENSP00000371577.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6PIL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Kv channel-interacting protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PIL6-1", "PR:Q6PIL6-1", "ENSEMBL:ENSP00000371587", "ENSEMBL:ENSP00000371587.2"], "information_content": 100.0}
{"id": "NCBIGene:2788", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNG7", "equivalent_identifiers": ["NCBIGene:2788", "ENSEMBL:ENSG00000176533", "HGNC:4410", "OMIM:604430", "UMLS:C1415160", "UniProtKB:O60262", "PR:O60262", "ENSEMBL:ENSP00000371594", "ENSEMBL:ENSP00000371594.2", "UMLS:C2352362", "MESH:C527544"], "information_content": 95.4}
{"id": "NCBIGene:4285", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MIPEP", "equivalent_identifiers": ["NCBIGene:4285", "ENSEMBL:ENSG00000027001", "HGNC:7104", "OMIM:602241", "UMLS:C1417171", "UniProtKB:Q99797", "PR:Q99797", "ENSEMBL:ENSP00000371607", "ENSEMBL:ENSP00000371607.3", "UMLS:C1721181"], "information_content": 95.4}
{"id": "UniProtKB:Q8IWQ3-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase BRSK2 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWQ3-5", "PR:Q8IWQ3-5", "ENSEMBL:ENSP00000371614", "ENSEMBL:ENSP00000371614.1", "ENSEMBL:ENSP00000516905", "ENSEMBL:ENSP00000516905.1"], "information_content": 100.0}
{"id": "UniProtKB:P51531-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable global transcription activator SNF2L2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P51531-1", "PR:P51531-1", "ENSEMBL:ENSP00000265773", "ENSEMBL:ENSP00000265773.5", "ENSEMBL:ENSP00000371638", "ENSEMBL:ENSP00000371638.1"], "information_content": 100.0}
{"id": "NCBIGene:613209", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFB135", "equivalent_identifiers": ["NCBIGene:613209", "ENSEMBL:ENSG00000205883", "HGNC:32400", "UMLS:C2829255", "UniProtKB:Q30KP9", "PR:Q30KP9", "ENSEMBL:ENSP00000371643", "ENSEMBL:ENSP00000371643.2", "ENSEMBL:ENSP00000495605", "ENSEMBL:ENSP00000495605.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N3X6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ligand-dependent nuclear receptor corepressor-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3X6-1", "PR:Q8N3X6-1", "ENSEMBL:ENSP00000371661", "ENSEMBL:ENSP00000371661.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5R5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "doublesex- and mab-3-related transcription factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5R5-1", "PR:Q9Y5R5-1", "ENSEMBL:ENSP00000350865", "ENSEMBL:ENSP00000350865.2", "ENSEMBL:ENSP00000371686", "ENSEMBL:ENSP00000371686.3"], "information_content": 100.0}
{"id": "UniProtKB:P55289-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-12 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P55289-1", "PR:P55289-1", "ENSEMBL:ENSP00000371689", "ENSEMBL:ENSP00000371689.1", "ENSEMBL:ENSP00000423577", "ENSEMBL:ENSP00000423577.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NS68-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NS68-1", "PR:Q9NS68-1", "ENSEMBL:ENSP00000371693", "ENSEMBL:ENSP00000371693.4"], "information_content": 100.0}
{"id": "UniProtKB:Q13634-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13634-1", "PR:Q13634-1", "ENSEMBL:ENSP00000274170", "ENSEMBL:ENSP00000274170.3", "ENSEMBL:ENSP00000371710", "ENSEMBL:ENSP00000371710.1", "ENSEMBL:ENSP00000425093", "ENSEMBL:ENSP00000425093.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5R6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "doublesex- and mab-3-related transcription factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5R6-1", "PR:Q9Y5R6-1", "ENSEMBL:ENSP00000371711", "ENSEMBL:ENSP00000371711.3"], "information_content": 100.0}
{"id": "NCBIGene:124220", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZG16B", "equivalent_identifiers": ["NCBIGene:124220", "ENSEMBL:ENSG00000162078", "HGNC:30456", "OMIM:620477", "UMLS:C2681131", "UniProtKB:A0A0C4DGN4", "UniProtKB:G8H6I3", "UMLS:C1872193", "MESH:C517340", "UniProtKB:Q96DA0", "PR:Q96DA0", "ENSEMBL:ENSP00000371715", "ENSEMBL:ENSP00000371715.4", "ENSEMBL:ENSP00000461740", "ENSEMBL:ENSP00000461740.2", "ENSEMBL:ENSP00000489035", "ENSEMBL:ENSP00000489035.2", "ENSEMBL:ENSP00000489251", "ENSEMBL:ENSP00000489251.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZJ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sacsin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZJ4-1", "PR:Q9NZJ4-1", "ENSEMBL:ENSP00000371729", "ENSEMBL:ENSP00000371729.3"], "information_content": 100.0}
{"id": "NCBIGene:9982", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGFBP1", "equivalent_identifiers": ["NCBIGene:9982", "ENSEMBL:ENSG00000137440", "HGNC:19695", "OMIM:607737", "UMLS:C1539517", "UniProtKB:Q14512", "PR:Q14512", "ENSEMBL:ENSP00000371770", "ENSEMBL:ENSP00000371770.1", "UMLS:C1504709", "MESH:C070699"], "information_content": 95.4}
{"id": "NCBIGene:116448", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OLIG1", "equivalent_identifiers": ["NCBIGene:116448", "ENSEMBL:ENSG00000184221", "HGNC:16983", "OMIM:606385", "UMLS:C1424672", "UniProtKB:Q8TAK6", "PR:Q8TAK6", "ENSEMBL:ENSP00000371785", "ENSEMBL:ENSP00000371785.1", "UMLS:C1433972", "MESH:C405707"], "information_content": 100.0}
{"id": "NCBIGene:390874", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ONECUT3", "equivalent_identifiers": ["NCBIGene:390874", "ENSEMBL:ENSG00000205922", "HGNC:13399", "OMIM:611294", "UMLS:C1421973", "UniProtKB:O60422", "PR:O60422", "ENSEMBL:ENSP00000371786", "ENSEMBL:ENSP00000371786.4"], "information_content": 100.0}
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{"id": "NCBIGene:200312", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF215", "equivalent_identifiers": ["NCBIGene:200312", "ENSEMBL:ENSG00000099999", "HGNC:33434", "UMLS:C2239899", "UniProtKB:Q9Y6U7", "PR:Q9Y6U7", "ENSEMBL:ENSP00000371800", "ENSEMBL:ENSP00000371800.3", "UMLS:C5773186", "MESH:C000726030"], "information_content": 100.0}
{"id": "UniProtKB:Q9NR90-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deleted in azoospermia protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR90-2", "PR:Q9NR90-2", "ENSEMBL:ENSP00000371802", "ENSEMBL:ENSP00000371802.2"], "information_content": 100.0}
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{"id": "NCBIGene:81623", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFB126", "equivalent_identifiers": ["NCBIGene:81623", "ENSEMBL:ENSG00000125788", "HGNC:15900", "OMIM:620131", "UMLS:C1423818", "UniProtKB:A0A384MDP8", "UMLS:C3266853", "MESH:C426184", "UniProtKB:Q9BYW3", "PR:Q9BYW3", "ENSEMBL:ENSP00000371835", "ENSEMBL:ENSP00000371835.3"], "information_content": 100.0}
{"id": "UniProtKB:O75398-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deformed epidermal autoregulatory factor 1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75398-1", "PR:O75398-1", "ENSEMBL:ENSP00000371846", "ENSEMBL:ENSP00000371846.3"], "information_content": 100.0}
{"id": "NCBIGene:245938", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFB125", "equivalent_identifiers": ["NCBIGene:245938", "ENSEMBL:ENSG00000178591", "HGNC:18105", "UMLS:C1425312", "UniProtKB:B2R4E8", "UniProtKB:Q8N687", "PR:Q8N687", "ENSEMBL:ENSP00000371847", "ENSEMBL:ENSP00000371847.2"], "information_content": 100.0}
{"id": "UniProtKB:P46087-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P46087-4", "PR:P46087-4", "ENSEMBL:ENSP00000371858", "ENSEMBL:ENSP00000371858.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRL2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain adjacent to zinc finger domain protein 1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRL2-1", "PR:Q9NRL2-1", "ENSEMBL:ENSP00000353458", "ENSEMBL:ENSP00000353458.1", "ENSEMBL:ENSP00000371859", "ENSEMBL:ENSP00000371859.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13117-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deleted in azoospermia protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13117-1", "PR:Q13117-1", "ENSEMBL:ENSP00000371870", "ENSEMBL:ENSP00000371870.4"], "information_content": 100.0}
{"id": "NCBIGene:83650", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC35G5", "equivalent_identifiers": ["NCBIGene:83650", "ENSEMBL:ENSG00000177710", "HGNC:15546", "OMIM:615199", "UMLS:C3469830", "UniProtKB:Q96KT7", "PR:Q96KT7", "ENSEMBL:ENSP00000371872", "ENSEMBL:ENSP00000371872.5", "ENSEMBL:ENSP00000495515", "ENSEMBL:ENSP00000495515.1"], "information_content": 100.0}
{"id": "MONDO:0002693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lateral sinus thrombosis", "equivalent_identifiers": ["MONDO:0002693", "DOID:3574", "UMLS:C0270639", "MESH:D020227", "MEDDRA:10044457", "SNOMEDCT:192761004", "SNOMEDCT:21258007", "medgen:124359"], "information_content": 100.0}
{"id": "NCBIGene:579", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKX3-2", "equivalent_identifiers": ["NCBIGene:579", "ENSEMBL:ENSG00000109705", "HGNC:951", "OMIM:602183", "UMLS:C1412734", "UniProtKB:P78367", "PR:P78367", "ENSEMBL:ENSP00000371875", "ENSEMBL:ENSP00000371875.5", "UMLS:C1257434", "MESH:C491536"], "information_content": 95.4}
{"id": "ENSEMBL:ENSP00000371886", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000371886", "equivalent_identifiers": ["ENSEMBL:ENSP00000371886"]}
{"id": "UniProtKB:Q13017-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13017-1", "PR:Q13017-1", "ENSEMBL:ENSP00000371897", "ENSEMBL:ENSP00000371897.1", "ENSEMBL:ENSP00000441692", "ENSEMBL:ENSP00000441692.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWN7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinitis pigmentosa 1-like 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWN7-1", "PR:Q8IWN7-1", "ENSEMBL:ENSP00000371923", "ENSEMBL:ENSP00000371923.3"], "information_content": 100.0}
{"id": "NCBIGene:27201", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR78", "equivalent_identifiers": ["NCBIGene:27201", "ENSEMBL:ENSG00000155269", "HGNC:4528", "OMIM:606921", "UMLS:C1415259", "UniProtKB:B2R7M4", "UniProtKB:Q96P69", "PR:Q96P69", "ENSEMBL:ENSP00000371927", "ENSEMBL:ENSP00000371927.4"], "information_content": 100.0}
{"id": "UniProtKB:Q70Z44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-hydroxytryptamine receptor 3D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q70Z44-1", "PR:Q70Z44-1", "ENSEMBL:ENSP00000371929", "ENSEMBL:ENSP00000371929.3"], "information_content": 100.0}
{"id": "NCBIGene:9037", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEMA5A", "equivalent_identifiers": ["NCBIGene:9037", "ENSEMBL:ENSG00000112902", "HGNC:10736", "OMIM:609297", "UMLS:C1419954", "UniProtKB:Q13591", "PR:Q13591", "ENSEMBL:ENSP00000371936", "ENSEMBL:ENSP00000371936.5", "ENSEMBL:ENSP00000499013", "ENSEMBL:ENSP00000499013.1", "UMLS:C1454557", "MESH:C491228", "UniProtKB:X5DR95"], "information_content": 89.4}
{"id": "NCBIGene:2298", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXD4", "equivalent_identifiers": ["NCBIGene:2298", "ENSEMBL:ENSG00000170122", "HGNC:3805", "OMIM:601092", "UMLS:C1414673", "UniProtKB:Q12950", "PR:Q12950", "ENSEMBL:ENSP00000371940", "ENSEMBL:ENSP00000371940.2", "UMLS:C1173318", "MESH:C470165"], "information_content": 100.0}
{"id": "NCBIGene:928", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD9", "equivalent_identifiers": ["NCBIGene:928", "ENSEMBL:ENSG00000010278", "HGNC:1709", "OMIM:143030", "UMLS:C1413246", "UniProtKB:A0A087WU13", "ENSEMBL:ENSP00000478288", "ENSEMBL:ENSP00000478288.2", "UniProtKB:A6NNI4", "ENSEMBL:ENSP00000371955", "ENSEMBL:ENSP00000371955.2", "ENSEMBL:ENSP00000494858", "ENSEMBL:ENSP00000494858.1", "ENSEMBL:ENSP00000495090", "ENSEMBL:ENSP00000495090.1", "ENSEMBL:ENSP00000502917", "ENSEMBL:ENSP00000502917.1", "UniProtKB:B4DK09", "UniProtKB:G8JLH6", "ENSEMBL:ENSP00000371959", "ENSEMBL:ENSP00000371959.5", "UniProtKB:P21926", "PR:P21926", "ENSEMBL:ENSP00000009180", "ENSEMBL:ENSP00000009180.4", "ENSEMBL:ENSP00000371958", "ENSEMBL:ENSP00000371958.1", "ENSEMBL:ENSP00000496639", "ENSEMBL:ENSP00000496639.1", "UMLS:C1701084", "MESH:C554869"], "information_content": 95.4}
{"id": "NCBIGene:3736", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNA1", "equivalent_identifiers": ["NCBIGene:3736", "ENSEMBL:ENSG00000111262", "HGNC:6218", "OMIM:176260", "UMLS:C1416543", "UniProtKB:Q09470", "PR:Q09470", "ENSEMBL:ENSP00000371985", "ENSEMBL:ENSP00000371985.3", "UMLS:C1566166", "MESH:C496946"], "information_content": 92.8}
{"id": "UniProtKB:Q96DA6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial import inner membrane translocase subunit TIM14 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DA6-1", "PR:Q96DA6-1", "ENSEMBL:ENSP00000372005", "ENSEMBL:ENSP00000372005.2"], "information_content": 100.0}
{"id": "UniProtKB:O96017-9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Chk2 isoform h9 (human)", "equivalent_identifiers": ["UniProtKB:O96017-9", "PR:O96017-9", "ENSEMBL:ENSP00000372023", "ENSEMBL:ENSP00000372023.2"], "information_content": 100.0}
{"id": "NCBIGene:26524", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LATS2", "equivalent_identifiers": ["NCBIGene:26524", "ENSEMBL:ENSG00000150457", "HGNC:6515", "OMIM:604861", "UMLS:C1334331", "UniProtKB:Q9NRM7", "PR:Q9NRM7", "ENSEMBL:ENSP00000372035", "ENSEMBL:ENSP00000372035.4", "UMLS:C0913413", "MESH:C406449"], "information_content": 90.9}
{"id": "UniProtKB:Q9Y2T4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2T4-1", "PR:Q9Y2T4-1", "ENSEMBL:ENSP00000372042", "ENSEMBL:ENSP00000372042.4"], "information_content": 100.0}
{"id": "NCBIGene:387733", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFITM5", "equivalent_identifiers": ["NCBIGene:387733", "ENSEMBL:ENSG00000206013", "HGNC:16644", "OMIM:614757", "UMLS:C1825562", "UniProtKB:A6NNB3", "PR:A6NNB3", "ENSEMBL:ENSP00000372059", "ENSEMBL:ENSP00000372059.2", "UMLS:C3502128", "MESH:C575746"], "information_content": 100.0}
{"id": "UniProtKB:Q9NR22-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein arginine N-methyltransferase 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR22-1", "PR:Q9NR22-1", "ENSEMBL:ENSP00000372067", "ENSEMBL:ENSP00000372067.3"], "information_content": 100.0}
{"id": "UniProtKB:P0C7P1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding motif protein, Y chromosome, family 1 member D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0C7P1-1", "PR:P0C7P1-1", "ENSEMBL:ENSP00000372127", "ENSEMBL:ENSP00000372127.1"], "information_content": 100.0}
{"id": "UniProtKB:P59665", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DEF1_HUMAN Neutrophil defensin 1 (sprot)", "equivalent_identifiers": ["UniProtKB:P59665", "PR:P59665", "ENSEMBL:ENSP00000372136", "ENSEMBL:ENSP00000372136.3", "ENSEMBL:ENSP00000372139", "ENSEMBL:ENSP00000372139.2", "ENSEMBL:ENSP00000493747", "ENSEMBL:ENSP00000493747.1", "ENSEMBL:ENSP00000496578", "ENSEMBL:ENSP00000496578.1"], "information_content": 87.2}
{"id": "UniProtKB:P0DJD3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding motif protein, Y chromosome, family 1 member A1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0DJD3-1", "PR:P0DJD3-1", "ENSEMBL:ENSP00000372154", "ENSEMBL:ENSP00000372154.2"], "information_content": 100.0}
{"id": "UniProtKB:Q06323-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome activator complex subunit 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q06323-2", "PR:Q06323-2", "ENSEMBL:ENSP00000372155", "ENSEMBL:ENSP00000372155.3", "ENSEMBL:ENSP00000496083", "ENSEMBL:ENSP00000496083.1"], "information_content": 100.0}
{"id": "NCBIGene:220164", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DOK6", "equivalent_identifiers": ["NCBIGene:220164", "ENSEMBL:ENSG00000206052", "HGNC:28301", "OMIM:611402", "UMLS:C1539310", "UniProtKB:Q6PKX4", "PR:Q6PKX4", "ENSEMBL:ENSP00000372160", "ENSEMBL:ENSP00000372160.5", "UMLS:C1528653", "MESH:C492987"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z3S7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent calcium channel subunit alpha-2/delta-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3S7-1", "PR:Q7Z3S7-1", "ENSEMBL:ENSP00000372169", "ENSEMBL:ENSP00000372169.4", "ENSEMBL:ENSP00000495256", "ENSEMBL:ENSP00000495256.1"], "information_content": 100.0}
{"id": "NCBIGene:4487", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MSX1", "equivalent_identifiers": ["NCBIGene:4487", "ENSEMBL:ENSG00000163132", "HGNC:7391", "OMIM:142983", "UMLS:C1417387", "UniProtKB:P28360", "PR:P28360", "ENSEMBL:ENSP00000372170", "ENSEMBL:ENSP00000372170.4", "UMLS:C1435681", "MESH:C484083"], "information_content": 95.4}
{"id": "UniProtKB:Q9NTG7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NTG7-1", "PR:Q9NTG7-1", "ENSEMBL:ENSP00000372191", "ENSEMBL:ENSP00000372191.4"], "information_content": 100.0}
{"id": "UniProtKB:P51798-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H(+)/Cl(-) exchange transporter 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51798-1", "PR:P51798-1", "ENSEMBL:ENSP00000372193", "ENSEMBL:ENSP00000372193.4"], "information_content": 100.0}
{"id": "NCBIGene:9875", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "URB1", "equivalent_identifiers": ["NCBIGene:9875", "ENSEMBL:ENSG00000142207", "HGNC:17344", "OMIM:608865", "UMLS:C1424918", "UniProtKB:O60287", "PR:O60287", "ENSEMBL:ENSP00000372199", "ENSEMBL:ENSP00000372199.3", "UMLS:C1434823", "MESH:C481540"], "information_content": 86.3}
{"id": "UniProtKB:Q5BJH2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 128 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5BJH2-1", "PR:Q5BJH2-1", "ENSEMBL:ENSP00000372201", "ENSEMBL:ENSP00000372201.4"], "information_content": 100.0}
{"id": "NCBIGene:221143", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EEF1AKMT1", "equivalent_identifiers": ["NCBIGene:221143", "ENSEMBL:ENSG00000150456", "HGNC:27351", "OMIM:617793", "UMLS:C4084698", "UniProtKB:B2RE94", "UniProtKB:Q8WVE0", "PR:Q8WVE0", "ENSEMBL:ENSP00000372202", "ENSEMBL:ENSP00000372202.4", "ENSEMBL:ENSP00000372206", "ENSEMBL:ENSP00000372206.1"], "information_content": 92.8}
{"id": "NCBIGene:51272", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BET1L", "equivalent_identifiers": ["NCBIGene:51272", "ENSEMBL:ENSG00000177951", "HGNC:19348", "OMIM:615417", "UMLS:C1426180", "UniProtKB:A0A0C4DH16", "ENSEMBL:ENSP00000339093", "ENSEMBL:ENSP00000339093.7", "UMLS:C1308203", "MESH:C107588", "UniProtKB:Q9NYM9", "PR:Q9NYM9", "ENSEMBL:ENSP00000372210", "ENSEMBL:ENSP00000372210.3"], "information_content": 92.8}
{"id": "UniProtKB:P36952-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serpin B5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P36952-1", "PR:P36952-1", "ENSEMBL:ENSP00000372221", "ENSEMBL:ENSP00000372221.4"], "information_content": 100.0}
{"id": "NCBIGene:728299", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP19-8", "equivalent_identifiers": ["NCBIGene:728299", "ENSEMBL:ENSG00000206102", "HGNC:33898", "UMLS:C2239639", "UniProtKB:Q3LI54", "PR:Q3LI54", "ENSEMBL:ENSP00000372272", "ENSEMBL:ENSP00000372272.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCJ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 25 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCJ0-1", "PR:Q8TCJ0-1", "ENSEMBL:ENSP00000372274", "ENSEMBL:ENSP00000372274.2"], "information_content": 100.0}
{"id": "NCBIGene:337985", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP20-3", "equivalent_identifiers": ["NCBIGene:337985", "ENSEMBL:ENSG00000206104", "HGNC:34001", "UMLS:C2239640", "UniProtKB:Q3LI60", "PR:Q3LI60", "ENSEMBL:ENSP00000372276", "ENSEMBL:ENSP00000372276.2"], "information_content": 100.0}
{"id": "NCBIGene:100151643", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP20-4", "equivalent_identifiers": ["NCBIGene:100151643", "ENSEMBL:ENSG00000206105", "HGNC:34002", "UMLS:C2239641", "UniProtKB:Q3LI62", "PR:Q3LI62", "ENSEMBL:ENSP00000372278", "ENSEMBL:ENSP00000372278.2"], "information_content": 100.0}
{"id": "MONDO:0016535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypohidrotic ectodermal dysplasia", "equivalent_identifiers": ["MONDO:0016535", "DOID:14793", "orphanet:238468", "UMLS:C5848103", "NCIT:C84562", "medgen:1853123", "icd11.foundation:673167184"], "information_content": 84.2}
{"id": "NCBIGene:100288287", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP22-2", "equivalent_identifiers": ["NCBIGene:100288287", "ENSEMBL:ENSG00000206106", "HGNC:37091", "UMLS:C2829628", "UniProtKB:Q3LI68", "PR:Q3LI68", "ENSEMBL:ENSP00000372281", "ENSEMBL:ENSP00000372281.2"], "information_content": 100.0}
{"id": "NCBIGene:643812", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP27-1", "equivalent_identifiers": ["NCBIGene:643812", "ENSEMBL:ENSG00000206107", "HGNC:33864", "UMLS:C2239645", "UniProtKB:Q3LI81", "PR:Q3LI81", "ENSEMBL:ENSP00000372286", "ENSEMBL:ENSP00000372286.2", "UMLS:C2606191", "MESH:C533804"], "information_content": 100.0}
{"id": "NCBIGene:2706", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJB2", "equivalent_identifiers": ["NCBIGene:2706", "ENSEMBL:ENSG00000165474", "HGNC:4284", "OMIM:121011", "UMLS:C1415077", "UniProtKB:H9U1J4", "UniProtKB:P29033", "PR:P29033", "ENSEMBL:ENSP00000372295", "ENSEMBL:ENSP00000372295.1", "ENSEMBL:ENSP00000372299", "ENSEMBL:ENSP00000372299.4", "UMLS:C4283927", "MESH:C000607042"], "information_content": 95.4}
{"id": "UniProtKB:Q13421-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mesothelin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13421-1", "PR:Q13421-1", "ENSEMBL:ENSP00000372313", "ENSEMBL:ENSP00000372313.3"], "information_content": 100.0}
{"id": "UniProtKB:O96028-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase NSD2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O96028-1", "PR:O96028-1", "ENSEMBL:ENSP00000372347", "ENSEMBL:ENSP00000372347.5", "ENSEMBL:ENSP00000372348", "ENSEMBL:ENSP00000372348.2", "ENSEMBL:ENSP00000372351", "ENSEMBL:ENSP00000372351.3", "ENSEMBL:ENSP00000423972", "ENSEMBL:ENSP00000423972.1"], "information_content": 100.0}
{"id": "MONDO:0002354", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign laryngeal neoplasm", "equivalent_identifiers": ["MONDO:0002354", "DOID:2598", "UMLS:C0153952", "MEDDRA:10004278", "MEDDRA:10004339", "MEDDRA:10023842", "MEDDRA:10023914", "NCIT:C3601", "SNOMEDCT:92175003", "medgen:56325"], "information_content": 83.1}
{"id": "UniProtKB:Q9UJ78-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger MYM-type protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJ78-1", "PR:Q9UJ78-1", "ENSEMBL:ENSP00000372361", "ENSEMBL:ENSP00000372361.4"], "information_content": 100.0}
{"id": "NCBIGene:6545", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC7A4", "equivalent_identifiers": ["NCBIGene:6545", "ENSEMBL:ENSG00000099960", "HGNC:11062", "OMIM:603752", "UMLS:C1420224", "UniProtKB:O43246", "PR:O43246", "ENSEMBL:ENSP00000372390", "ENSEMBL:ENSP00000372390.2", "ENSEMBL:ENSP00000384278", "ENSEMBL:ENSP00000384278.1", "UMLS:C0753560", "MESH:C420862"], "information_content": 90.9}
{"id": "MONDO:0006701", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromophobe adenoma", "equivalent_identifiers": ["MONDO:0006701", "DOID:3828", "EFO:1000867", "UMLS:C0001432", "MESH:D000238", "NCIT:C2857", "SNOMEDCT:37039006", "medgen:1747"], "information_content": 100.0}
{"id": "UniProtKB:A0AVI4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TM129 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:A0AVI4-1", "PR:A0AVI4-1", "ENSEMBL:ENSP00000372394", "ENSEMBL:ENSP00000372394.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H7H0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosome assembly protein METTL17, mitochondrial isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9H7H0-3", "PR:Q9H7H0-3", "ENSEMBL:ENSP00000372445", "ENSEMBL:ENSP00000372445.4"], "information_content": 100.0}
{"id": "UniProtKB:O43310-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CBP80/20-dependent translation initiation factor isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:O43310-2", "PR:O43310-2", "ENSEMBL:ENSP00000372459", "ENSEMBL:ENSP00000372459.3", "ENSEMBL:ENSP00000489354", "ENSEMBL:ENSP00000489354.1"], "information_content": 100.0}
{"id": "NCBIGene:728395", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPY4", "equivalent_identifiers": ["NCBIGene:728395", "ENSEMBL:ENSG00000233803", "HGNC:37287", "UMLS:C2828966", "UniProtKB:A6NEC3", "ENSEMBL:ENSP00000372471", "ENSEMBL:ENSP00000372471.1", "ENSEMBL:ENSP00000516922", "ENSEMBL:ENSP00000516922.1", "UMLS:C3849404", "MESH:C586980", "UniProtKB:P0CV99", "PR:P0CV99", "ENSEMBL:ENSP00000399668", "ENSEMBL:ENSP00000399668.2", "ENSEMBL:ENSP00000516920", "ENSEMBL:ENSP00000516920.1"]}
{"id": "NCBIGene:378948", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBMY1B", "equivalent_identifiers": ["NCBIGene:378948", "ENSEMBL:ENSG00000242875", "HGNC:23914", "UMLS:C1538797", "UniProtKB:A6NDE4", "PR:A6NDE4", "ENSEMBL:ENSP00000372484", "ENSEMBL:ENSP00000372484.3", "UMLS:C5433350", "MESH:C000711709", "UniProtKB:B9EIP3"], "information_content": 100.0}
{"id": "NCBIGene:90665", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBL1Y", "equivalent_identifiers": ["NCBIGene:90665", "ENSEMBL:ENSG00000092377", "HGNC:18502", "OMIM:400033", "UMLS:C1425563", "UniProtKB:Q9BQ87", "PR:Q9BQ87", "ENSEMBL:ENSP00000328879", "ENSEMBL:ENSP00000328879.4", "ENSEMBL:ENSP00000347289", "ENSEMBL:ENSP00000347289.2", "ENSEMBL:ENSP00000372499", "ENSEMBL:ENSP00000372499.1", "UMLS:C1435376", "MESH:C485612"], "information_content": 100.0}
{"id": "UniProtKB:Q99218-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amelogenin, Y isoform isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99218-2", "PR:Q99218-2", "ENSEMBL:ENSP00000372505", "ENSEMBL:ENSP00000372505.1"], "information_content": 100.0}
{"id": "NCBIGene:64591", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPY2", "equivalent_identifiers": ["NCBIGene:64591", "ENSEMBL:ENSG00000168757", "HGNC:23924", "UMLS:C1428331", "UniProtKB:A6NGT6", "ENSEMBL:ENSP00000372512", "ENSEMBL:ENSP00000372512.1", "UniProtKB:A6NKD2", "PR:A6NKD2", "ENSEMBL:ENSP00000314077", "ENSEMBL:ENSP00000314077.4"]}
{"id": "NCBIGene:6736", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRY", "equivalent_identifiers": ["NCBIGene:6736", "ENSEMBL:ENSG00000184895", "HGNC:11311", "OMIM:480000", "UMLS:C1420418", "UniProtKB:A7WPU8", "UniProtKB:Q05066", "PR:Q05066", "ENSEMBL:ENSP00000372547", "ENSEMBL:ENSP00000372547.1", "UMLS:C1566703", "MESH:C497745"], "information_content": 100.0}
{"id": "MONDO:0000004", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adrenocortical insufficiency", "equivalent_identifiers": ["MONDO:0000004", "DOID:10493", "EFO:0009491", "UMLS:C0001623", "UMLS:C0405580", "MESH:D000309", "MEDDRA:10001334", "MEDDRA:10001335", "MEDDRA:10001342", "MEDDRA:10001343", "MEDDRA:10001344", "MEDDRA:10001366", "MEDDRA:10001367", "MEDDRA:10001369", "MEDDRA:10011172", "MEDDRA:10020936", "MEDDRA:10020979", "MEDDRA:10022460", "MEDDRA:10022461", "MEDDRA:10056485", "MEDDRA:10082130", "NCIT:C26691", "SNOMEDCT:111563005", "SNOMEDCT:237785004", "SNOMEDCT:386584007", "medgen:589758", "icd11.foundation:733056203", "ICD9:255.4", "HP:0000846"], "information_content": 77.6}
{"id": "NCBIGene:729627", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRR23A", "equivalent_identifiers": ["NCBIGene:729627", "ENSEMBL:ENSG00000206260", "HGNC:37172", "UMLS:C2828561", "UniProtKB:A6NEV1", "PR:A6NEV1", "ENSEMBL:ENSP00000372649", "ENSEMBL:ENSP00000372649.2"], "information_content": 100.0}
{"id": "NCBIGene:401089", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXL2NB", "equivalent_identifiers": ["NCBIGene:401089", "ENSEMBL:ENSG00000206262", "HGNC:34428", "UMLS:C2681215", "UniProtKB:B7Z962", "UniProtKB:Q6ZUU3", "PR:Q6ZUU3", "ENSEMBL:ENSP00000372651", "ENSEMBL:ENSP00000372651.3"], "information_content": 95.4}
{"id": "UniProtKB:Q8WVM7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cohesin subunit SA-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVM7-1", "PR:Q8WVM7-1", "ENSEMBL:ENSP00000372689", "ENSEMBL:ENSP00000372689.2"], "information_content": 100.0}
{"id": "NCBIGene:1133", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHRM5", "equivalent_identifiers": ["NCBIGene:1133", "ENSEMBL:ENSG00000184984", "HGNC:1954", "OMIM:118496", "UMLS:C1332761", "UniProtKB:P08912", "PR:P08912", "ENSEMBL:ENSP00000372750", "ENSEMBL:ENSP00000372750.5", "ENSEMBL:ENSP00000453745", "ENSEMBL:ENSP00000453745.1", "UMLS:C1334834", "UniProtKB:Q8IVW0"], "information_content": 95.4}
{"id": "UniProtKB:Q8NG66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Nek11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NG66-1", "PR:Q8NG66-1", "ENSEMBL:ENSP00000372857", "ENSEMBL:ENSP00000372857.4", "ENSEMBL:ENSP00000421851", "ENSEMBL:ENSP00000421851.1"], "information_content": 100.0}
{"id": "NCBIGene:10928", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RALBP1", "equivalent_identifiers": ["NCBIGene:10928", "ENSEMBL:ENSG00000017797", "HGNC:9841", "OMIM:605801", "UMLS:C1419253", "UniProtKB:Q15311", "PR:Q15311", "ENSEMBL:ENSP00000019317", "ENSEMBL:ENSP00000019317.4", "ENSEMBL:ENSP00000372924", "ENSEMBL:ENSP00000372924.3", "UMLS:C1448943", "MESH:C095637"], "information_content": 95.4}
{"id": "NCBIGene:56941", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMCES", "equivalent_identifiers": ["NCBIGene:56941", "ENSEMBL:ENSG00000183624", "HGNC:24446", "OMIM:618288", "UMLS:C1824133", "UniProtKB:E7EMP6", "ENSEMBL:ENSP00000392966", "ENSEMBL:ENSP00000392966.2", "UniProtKB:Q96FZ2", "PR:Q96FZ2", "ENSEMBL:ENSP00000372955", "ENSEMBL:ENSP00000372955.3", "ENSEMBL:ENSP00000374385", "ENSEMBL:ENSP00000374385.3", "ENSEMBL:ENSP00000426215", "ENSEMBL:ENSP00000426215.1", "UMLS:C5391429", "MESH:C000657491"], "information_content": 100.0}
{"id": "MONDO:0019438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "AL amyloidosis", "equivalent_identifiers": ["MONDO:0019438", "DOID:0080933", "orphanet:85443", "UMLS:C0268381", "MESH:C531616", "MESH:D000075363", "MEDDRA:10036673", "MEDDRA:10083938", "MEDDRA:10086183", "NCIT:C158963", "NCIT:C3819", "SNOMEDCT:23132008", "medgen:75674", "icd11.foundation:1061366491", "icd11.foundation:113043090", "ICD10:E85.81"], "information_content": 83.1}
{"id": "UniProtKB:Q96N76-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "urocanate hydratase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96N76-2", "PR:Q96N76-2", "ENSEMBL:ENSP00000373073", "ENSEMBL:ENSP00000373073.3"], "information_content": 100.0}
{"id": "NCBIGene:201562", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HACD2", "equivalent_identifiers": ["NCBIGene:201562", "ENSEMBL:ENSG00000206527", "HGNC:9640", "OMIM:615939", "UMLS:C3892028", "UniProtKB:Q6Y1H2", "PR:Q6Y1H2", "ENSEMBL:ENSP00000373153", "ENSEMBL:ENSP00000373153.5", "UMLS:C1451108", "MESH:C484872"], "information_content": 95.4}
{"id": "MONDO:0017093", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "unilateral focal polymicrogyria", "equivalent_identifiers": ["MONDO:0017093", "DOID:0080919", "orphanet:268947", "UMLS:C5680773", "medgen:1842371", "icd11.foundation:1006662041"], "information_content": 100.0}
{"id": "UniProtKB:P35462-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D(3) dopamine receptor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35462-1", "PR:P35462-1", "ENSEMBL:ENSP00000373169", "ENSEMBL:ENSP00000373169.2", "ENSEMBL:ENSP00000419402", "ENSEMBL:ENSP00000419402.1", "ENSEMBL:ENSP00000420662", "ENSEMBL:ENSP00000420662.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N3Z3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTP-binding protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3Z3-1", "PR:Q8N3Z3-1", "ENSEMBL:ENSP00000373176", "ENSEMBL:ENSP00000373176.2"], "information_content": 100.0}
{"id": "NCBIGene:348801", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LNP1", "equivalent_identifiers": ["NCBIGene:348801", "ENSEMBL:ENSG00000206535", "HGNC:28014", "UMLS:C1825866", "UniProtKB:A1A4G5", "PR:A1A4G5", "ENSEMBL:ENSP00000373191", "ENSEMBL:ENSP00000373191.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5NDL2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EGF domain-specific O-linked N-acetylglucosamine transferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5NDL2-1", "PR:Q5NDL2-1", "ENSEMBL:ENSP00000373206", "ENSEMBL:ENSP00000373206.3", "ENSEMBL:ENSP00000443780", "ENSEMBL:ENSP00000443780.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULU8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-dependent secretion activator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULU8-1", "PR:Q9ULU8-1", "ENSEMBL:ENSP00000373215", "ENSEMBL:ENSP00000373215.4"], "information_content": 100.0}
{"id": "UniProtKB:O95196-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chondroitin sulfate proteoglycan 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95196-1", "PR:O95196-1", "ENSEMBL:ENSP00000373244", "ENSEMBL:ENSP00000373244.2"], "information_content": 100.0}
{"id": "NCBIGene:131405", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM71", "equivalent_identifiers": ["NCBIGene:131405", "ENSEMBL:ENSG00000206557", "HGNC:32669", "OMIM:618570", "UMLS:C1823492", "UniProtKB:Q2Q1W2", "PR:Q2Q1W2", "ENSEMBL:ENSP00000373272", "ENSEMBL:ENSP00000373272.3", "ENSEMBL:ENSP00000516963", "ENSEMBL:ENSP00000516963.1", "UMLS:C3712491", "MESH:C584142"], "information_content": 95.4}
{"id": "UniProtKB:Q6XE24-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding motif, single-stranded-interacting protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6XE24-1", "PR:Q6XE24-1", "ENSEMBL:ENSP00000373277", "ENSEMBL:ENSP00000373277.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y215-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetylcholinesterase collagenic tail peptide isoform I (human)", "equivalent_identifiers": ["UniProtKB:Q9Y215-1", "PR:Q9Y215-1", "ENSEMBL:ENSP00000373298", "ENSEMBL:ENSP00000373298.3"], "information_content": 100.0}
{"id": "UniProtKB:O60239-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH3 domain-binding protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60239-1", "PR:O60239-1", "ENSEMBL:ENSP00000373301", "ENSEMBL:ENSP00000373301.3"], "information_content": 100.0}
{"id": "NCBIGene:51244", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC174", "equivalent_identifiers": ["NCBIGene:51244", "ENSEMBL:ENSG00000154781", "HGNC:28033", "OMIM:616735", "UMLS:C1540230", "UniProtKB:A0A0B4J1R8", "ENSEMBL:ENSP00000302344", "ENSEMBL:ENSP00000302344.7", "UniProtKB:Q6PII3", "PR:Q6PII3", "ENSEMBL:ENSP00000373304", "ENSEMBL:ENSP00000373304.3", "UMLS:C4307474", "MESH:C000610538"], "information_content": 100.0}
{"id": "MONDO:0007033", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abducens nerve palsy", "equivalent_identifiers": ["MONDO:0007033", "DOID:10865", "OMIM:100200", "UMLS:C4551519", "MEDDRA:10000112", "MEDDRA:10040763", "MEDDRA:10047640", "MEDDRA:10047641", "NCIT:C27592", "medgen:1645218", "icd11.foundation:2004845959"], "information_content": 100.0}
{"id": "UniProtKB:P55735-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SEC13 homolog isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P55735-3", "PR:P55735-3", "ENSEMBL:ENSP00000373312", "ENSEMBL:ENSP00000373312.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFR9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-17 receptor E isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFR9-1", "PR:Q8NFR9-1", "ENSEMBL:ENSP00000373325", "ENSEMBL:ENSP00000373325.3"], "information_content": 100.0}
{"id": "NCBIGene:63924", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIDEC", "equivalent_identifiers": ["NCBIGene:63924", "ENSEMBL:ENSG00000187288", "HGNC:24229", "OMIM:612120", "UMLS:C1538466", "UniProtKB:A0A0A0MRY9", "ENSEMBL:ENSP00000373328", "ENSEMBL:ENSP00000373328.2", "UMLS:C1174921", "MESH:C472088", "UniProtKB:Q96AQ7", "PR:Q96AQ7"]}
{"id": "UniProtKB:Q6P087-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial mRNA pseudouridine synthase RPUSD3 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q6P087-5", "PR:Q6P087-5", "ENSEMBL:ENSP00000373331", "ENSEMBL:ENSP00000373331.6"], "information_content": 100.0}
{"id": "UniProtKB:P55201-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peregrin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P55201-2", "PR:P55201-2", "ENSEMBL:ENSP00000373340", "ENSEMBL:ENSP00000373340.2", "ENSEMBL:ENSP00000506921", "ENSEMBL:ENSP00000506921.1"], "information_content": 100.0}
{"id": "MONDO:0011997", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hermansky-Pudlak syndrome 2", "equivalent_identifiers": ["MONDO:0011997", "DOID:0060540", "OMIM:608233", "orphanet:183678", "orphanet:664500", "UMLS:C1842362", "MESH:C537709", "NCIT:C150368", "medgen:374912"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "copine-9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYJ1-1", "PR:Q8IYJ1-1", "ENSEMBL:ENSP00000373343", "ENSEMBL:ENSP00000373343.3"], "information_content": 100.0}
{"id": "UniProtKB:O43295-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SLIT-ROBO Rho GTPase-activating protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43295-1", "PR:O43295-1", "ENSEMBL:ENSP00000373347", "ENSEMBL:ENSP00000373347.3"], "information_content": 100.0}
{"id": "UniProtKB:Q53H47-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase SETMAR isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53H47-1", "PR:Q53H47-1", "ENSEMBL:ENSP00000373354", "ENSEMBL:ENSP00000373354.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXB0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM131A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXB0-3", "PR:Q6UXB0-3", "ENSEMBL:ENSP00000373360", "ENSEMBL:ENSP00000373360.2"], "information_content": 100.0}
{"id": "MONDO:0006275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung giant cell carcinoma", "equivalent_identifiers": ["MONDO:0006275", "DOID:5583", "EFO:1000332", "UMLS:C0206703", "UMLS:C0345960", "MESH:D018286", "NCIT:C3779", "NCIT:C4452", "SNOMEDCT:254631008", "SNOMEDCT:42596004", "medgen:83392"], "information_content": 90.9}
{"id": "UniProtKB:Q8NBJ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi membrane protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBJ4-1", "PR:Q8NBJ4-1", "ENSEMBL:ENSP00000373363", "ENSEMBL:ENSP00000373363.3", "ENSEMBL:ENSP00000373364", "ENSEMBL:ENSP00000373364.3"], "information_content": 100.0}
{"id": "NCBIGene:388698", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FLG2", "equivalent_identifiers": ["NCBIGene:388698", "ENSEMBL:ENSG00000143520", "HGNC:33276", "OMIM:616284", "UMLS:C2239455", "UniProtKB:Q5D862", "PR:Q5D862", "ENSEMBL:ENSP00000373370", "ENSEMBL:ENSP00000373370.4", "UMLS:C5565181", "MESH:C000717250"], "information_content": 100.0}
{"id": "UniProtKB:Q5T9C9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T9C9-1", "PR:Q5T9C9-1", "ENSEMBL:ENSP00000373399", "ENSEMBL:ENSP00000373399.4"], "information_content": 100.0}
{"id": "NCBIGene:51069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL2", "equivalent_identifiers": ["NCBIGene:51069", "ENSEMBL:ENSG00000112651", "HGNC:14056", "OMIM:611822", "UMLS:C1422380", "UniProtKB:C9IY40", "ENSEMBL:ENSP00000230413", "ENSEMBL:ENSP00000230413.5", "UniProtKB:Q5T653", "PR:Q5T653", "ENSEMBL:ENSP00000373404", "ENSEMBL:ENSP00000373404.3"], "information_content": 89.4}
{"id": "MONDO:0016372", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glossopharyngeal neuralgia", "equivalent_identifiers": ["MONDO:0016372", "DOID:14423", "orphanet:221098", "UMLS:C0154731", "MEDDRA:10018391", "SNOMEDCT:43763009", "medgen:57595", "ICD10:G52.1", "ICD9:352.1"], "information_content": 100.0}
{"id": "NCBIGene:402682", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UFSP1", "equivalent_identifiers": ["NCBIGene:402682", "ENSEMBL:ENSG00000176125", "HGNC:33821", "OMIM:611481", "UMLS:C1969109", "UniProtKB:A0AAR1ZLH9", "ENSEMBL:ENSP00000373413", "ENSEMBL:ENSP00000373413.2", "UniProtKB:Q6NVU6", "PR:Q6NVU6", "ENSEMBL:ENSP00000499910", "ENSEMBL:ENSP00000499910.2", "UMLS:C5771859", "MESH:C000723998"]}
{"id": "UniProtKB:Q8WXA3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RUN and FYVE domain-containing protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXA3-3", "PR:Q8WXA3-3", "ENSEMBL:ENSP00000373420", "ENSEMBL:ENSP00000373420.2"], "information_content": 100.0}
{"id": "UniProtKB:A4D0S4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "laminin subunit beta-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A4D0S4-1", "PR:A4D0S4-1", "ENSEMBL:ENSP00000205386", "ENSEMBL:ENSP00000205386.4", "ENSEMBL:ENSP00000373433", "ENSEMBL:ENSP00000373433.3"], "information_content": 100.0}
{"id": "UniProtKB:Q07617-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sperm-associated antigen 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q07617-1", "PR:Q07617-1", "ENSEMBL:ENSP00000251809", "ENSEMBL:ENSP00000251809.3", "ENSEMBL:ENSP00000373450", "ENSEMBL:ENSP00000373450.3"], "information_content": 100.0}
{"id": "NCBIGene:11173", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAMTS7", "equivalent_identifiers": ["NCBIGene:11173", "ENSEMBL:ENSG00000136378", "HGNC:223", "OMIM:605009", "UMLS:C1412213", "UniProtKB:Q9UKP4", "PR:Q9UKP4", "ENSEMBL:ENSP00000373472", "ENSEMBL:ENSP00000373472.4"], "information_content": 81.7}
{"id": "NCBIGene:57721", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "METTL14", "equivalent_identifiers": ["NCBIGene:57721", "ENSEMBL:ENSG00000145388", "HGNC:29330", "OMIM:616504", "UMLS:C2681660", "UniProtKB:Q9HCE5", "PR:Q9HCE5", "ENSEMBL:ENSP00000373474", "ENSEMBL:ENSP00000373474.3", "UMLS:C3849295", "MESH:C587355"], "information_content": 95.4}
{"id": "NCBIGene:2878", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPX3", "equivalent_identifiers": ["NCBIGene:2878", "ENSEMBL:ENSG00000211445", "HGNC:4555", "OMIM:138321", "UMLS:C1415277", "UniProtKB:P22352", "PR:P22352", "ENSEMBL:ENSP00000373477", "ENSEMBL:ENSP00000373477.4", "UMLS:C1436542", "MESH:C486484"], "information_content": 89.4}
{"id": "NCBIGene:3875", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT18", "equivalent_identifiers": ["NCBIGene:3875", "ENSEMBL:ENSG00000111057", "HGNC:6430", "OMIM:148070", "UMLS:C1416731", "UniProtKB:P05783", "PR:P05783", "ENSEMBL:ENSP00000373487", "ENSEMBL:ENSP00000373487.3", "ENSEMBL:ENSP00000373489", "ENSEMBL:ENSP00000373489.2", "UMLS:C1455201", "MESH:C488421"], "information_content": 86.3}
{"id": "UniProtKB:Q96PH1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADPH oxidase 5 isoform hv3 (human)", "equivalent_identifiers": ["UniProtKB:Q96PH1-1", "PR:Q96PH1-1", "ENSEMBL:ENSP00000373518", "ENSEMBL:ENSP00000373518.3"], "information_content": 100.0}
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{"id": "NCBIGene:286077", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM83H", "equivalent_identifiers": ["NCBIGene:286077", "ENSEMBL:ENSG00000180921", "HGNC:24797", "OMIM:611927", "UMLS:C1825168", "UniProtKB:Q6ZRV2", "PR:Q6ZRV2", "ENSEMBL:ENSP00000373565", "ENSEMBL:ENSP00000373565.3", "ENSEMBL:ENSP00000478790", "ENSEMBL:ENSP00000478790.1", "UMLS:C2352142", "MESH:C527308", "UniProtKB:Q71RB4"], "information_content": 100.0}
{"id": "NCBIGene:7306", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TYRP1", "equivalent_identifiers": ["NCBIGene:7306", "ENSEMBL:ENSG00000107165", "HGNC:12450", "OMIM:115501", "UMLS:C1336694", "UniProtKB:P17643", "PR:P17643", "ENSEMBL:ENSP00000373570", "ENSEMBL:ENSP00000373570.4", "UMLS:C1455498", "MESH:C489799"], "information_content": 92.8}
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{"id": "NCBIGene:399823", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXI2", "equivalent_identifiers": ["NCBIGene:399823", "ENSEMBL:ENSG00000186766", "HGNC:32448", "OMIM:617202", "UMLS:C2239460", "UniProtKB:Q6ZQN5", "PR:Q6ZQN5", "ENSEMBL:ENSP00000373572", "ENSEMBL:ENSP00000373572.4"], "information_content": 95.4}
{"id": "NCBIGene:94", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACVRL1", "equivalent_identifiers": ["NCBIGene:94", "ENSEMBL:ENSG00000139567", "HGNC:175", "OMIM:601284", "UMLS:C1366767", "UniProtKB:A0A0S2Z2Y4", "UniProtKB:A0A0S2Z310", "UniProtKB:H3BTZ2", "ENSEMBL:ENSP00000457394", "ENSEMBL:ENSP00000457394.2", "UniProtKB:P37023", "PR:P37023", "ENSEMBL:ENSP00000373574", "ENSEMBL:ENSP00000373574.4", "ENSEMBL:ENSP00000455848", "ENSEMBL:ENSP00000455848.2", "UMLS:C1504731", "MESH:C425364"], "information_content": 73.7}
{"id": "NCBIGene:206412", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C6orf163", "equivalent_identifiers": ["NCBIGene:206412", "ENSEMBL:ENSG00000203872", "HGNC:21403", "UMLS:C1427548", "UniProtKB:Q5TEZ5", "PR:Q5TEZ5", "ENSEMBL:ENSP00000373575", "ENSEMBL:ENSP00000373575.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N7X2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein STPG3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N7X2-2", "PR:Q8N7X2-2", "ENSEMBL:ENSP00000373583", "ENSEMBL:ENSP00000373583.3"], "information_content": 100.0}
{"id": "UniProtKB:Q08AI8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein mab-21-like 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08AI8-1", "PR:Q08AI8-1", "ENSEMBL:ENSP00000373586", "ENSEMBL:ENSP00000373586.4"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000373594", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000373594", "equivalent_identifiers": ["ENSEMBL:ENSP00000373594"]}
{"id": "UniProtKB:Q38SD2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat serine/threonine-protein kinase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q38SD2-1", "PR:Q38SD2-1", "ENSEMBL:ENSP00000373600", "ENSEMBL:ENSP00000373600.3"], "information_content": 100.0}
{"id": "NCBIGene:346288", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEPTIN14", "equivalent_identifiers": ["NCBIGene:346288", "ENSEMBL:ENSG00000154997", "HGNC:33280", "OMIM:612140", "UMLS:C2239921", "UniProtKB:Q6ZU15", "PR:Q6ZU15", "ENSEMBL:ENSP00000373627", "ENSEMBL:ENSP00000373627.3", "UMLS:C2352264", "MESH:C527449"], "information_content": 100.0}
{"id": "UniProtKB:A2RU49-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hydroxylysine kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2RU49-1", "PR:A2RU49-1", "ENSEMBL:ENSP00000373640", "ENSEMBL:ENSP00000373640.4", "ENSEMBL:ENSP00000455459", "ENSEMBL:ENSP00000455459.1"], "information_content": 100.0}
{"id": "UniProtKB:A6ND36-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM83G isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6ND36-1", "PR:A6ND36-1", "ENSEMBL:ENSP00000373647", "ENSEMBL:ENSP00000373647.5"], "information_content": 100.0}
{"id": "MONDO:0013016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukocyte adhesion deficiency 3", "equivalent_identifiers": ["MONDO:0013016", "DOID:0110912", "OMIM:612840", "orphanet:99844", "UMLS:C2748536", "MESH:C567555", "NCIT:C154615", "SNOMEDCT:1269277004", "medgen:411605"], "information_content": 100.0}
{"id": "UniProtKB:O43525-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium voltage-gated channel subfamily KQT member 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43525-1", "PR:O43525-1", "ENSEMBL:ENSP00000373648", "ENSEMBL:ENSP00000373648.3"], "information_content": 100.0}
{"id": "UniProtKB:Q53F19-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear cap-binding protein subunit 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53F19-1", "PR:Q53F19-1", "ENSEMBL:ENSP00000373657", "ENSEMBL:ENSP00000373657.4"], "information_content": 100.0}
{"id": "MONDO:0006576", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ludwig's angina", "equivalent_identifiers": ["MONDO:0006576", "DOID:4558", "EFO:1000730", "UMLS:C0024081", "MESH:D008158", "MEDDRA:10048806", "MEDDRA:10078047", "SNOMEDCT:196542004", "medgen:44205"], "information_content": 100.0}
{"id": "NCBIGene:54785", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BORCS6", "equivalent_identifiers": ["NCBIGene:54785", "ENSEMBL:ENSG00000196544", "HGNC:25939", "OMIM:616599", "UMLS:C1824451", "UniProtKB:Q96GS4", "PR:Q96GS4", "ENSEMBL:ENSP00000373669", "ENSEMBL:ENSP00000373669.4"], "information_content": 100.0}
{"id": "NCBIGene:56953", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NT5M", "equivalent_identifiers": ["NCBIGene:56953", "ENSEMBL:ENSG00000205309", "HGNC:15769", "OMIM:605292", "UMLS:C1423718", "UniProtKB:Q2I378", "ENSEMBL:ENSP00000481269", "ENSEMBL:ENSP00000481269.1", "UMLS:C2973303", "MESH:C552627", "UniProtKB:Q9NPB1", "PR:Q9NPB1", "ENSEMBL:ENSP00000373674", "ENSEMBL:ENSP00000373674.4"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y2H1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase 38-like isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2H1-1", "PR:Q9Y2H1-1", "ENSEMBL:ENSP00000373684", "ENSEMBL:ENSP00000373684.3"], "information_content": 100.0}
{"id": "NCBIGene:50506", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUOX2", "equivalent_identifiers": ["NCBIGene:50506", "ENSEMBL:ENSG00000140279", "HGNC:13273", "OMIM:606759", "UMLS:C1421916", "UniProtKB:Q9NRD8", "PR:Q9NRD8", "ENSEMBL:ENSP00000475084", "ENSEMBL:ENSP00000475084.1", "UMLS:C1448043", "MESH:C431515", "UniProtKB:X6RAN8", "ENSEMBL:ENSP00000373691", "ENSEMBL:ENSP00000373691.7"]}
{"id": "UniProtKB:Q14669-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIP12 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q14669-3", "PR:Q14669-3", "ENSEMBL:ENSP00000373696", "ENSEMBL:ENSP00000373696.4"], "information_content": 100.0}
{"id": "NCBIGene:238", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALK", "equivalent_identifiers": ["NCBIGene:238", "ENSEMBL:ENSG00000171094", "HGNC:427", "OMIM:105590", "UMLS:C1332080", "UniProtKB:A0A0K2YUJ3", "ENSEMBL:ENSP00000493203", "ENSEMBL:ENSP00000493203.1", "UniProtKB:B6D4Y2", "UniProtKB:Q9UM73", "PR:Q9UM73", "ENSEMBL:ENSP00000373700", "ENSEMBL:ENSP00000373700.3", "UMLS:C1663627", "UMLS:C4724741", "MESH:C000626173"], "information_content": 70.8}
{"id": "MONDO:0006883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pancoast tumor", "equivalent_identifiers": ["MONDO:0006883", "DOID:8007", "EFO:1001080", "UMLS:C0549471", "MEDDRA:10033571", "MEDDRA:10033572", "NCIT:C7527", "SNOMEDCT:254638002", "medgen:107810"], "information_content": 92.8}
{"id": "MONDO:0001672", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bronchus cancer", "equivalent_identifiers": ["MONDO:0001672", "DOID:1325", "UMLS:C0348343", "UMLS:C1322284", "NCIT:C156885", "SNOMEDCT:363493006", "medgen:730206", "ICD10:C34", "ICD9:162.9"], "information_content": 85.5}
{"id": "MONDO:0006474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transitional cell carcinoma", "equivalent_identifiers": ["MONDO:0006474", "DOID:2671", "EFO:1000601", "UMLS:C0007138", "UMLS:C0279680", "MESH:D002295", "MEDDRA:10005084", "MEDDRA:10007477", "MEDDRA:10044412", "MEDDRA:10046714", "NCIT:C2930", "SNOMEDCT:255109008", "SNOMEDCT:27090000", "medgen:2875", "HP:0006740"], "information_content": 64.7}
{"id": "UniProtKB:O60610-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein diaphanous homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60610-1", "PR:O60610-1", "ENSEMBL:ENSP00000373706", "ENSEMBL:ENSP00000373706.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8IU60-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "m7GpppN-mRNA hydrolase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IU60-1", "PR:Q8IU60-1", "ENSEMBL:ENSP00000373715", "ENSEMBL:ENSP00000373715.2"], "information_content": 100.0}
{"id": "NCBIGene:100132916", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SHISAL2B", "equivalent_identifiers": ["NCBIGene:100132916", "ENSEMBL:ENSG00000145642", "HGNC:34236", "OMIM:620219", "UMLS:C4555124", "UniProtKB:A6NKW6", "PR:A6NKW6", "ENSEMBL:ENSP00000373726", "ENSEMBL:ENSP00000373726.5"], "information_content": 100.0}
{"id": "UniProtKB:Q86T96-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF180 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86T96-1", "PR:Q86T96-1", "ENSEMBL:ENSP00000373752", "ENSEMBL:ENSP00000373752.4"], "information_content": 100.0}
{"id": "NCBIGene:56254", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF20", "equivalent_identifiers": ["NCBIGene:56254", "ENSEMBL:ENSG00000155827", "HGNC:10062", "OMIM:607699", "UMLS:C1419420", "UniProtKB:Q5VTR2", "PR:Q5VTR2", "ENSEMBL:ENSP00000373772", "ENSEMBL:ENSP00000373772.3", "UMLS:C1680604", "MESH:C506646"], "information_content": 92.8}
{"id": "NCBIGene:4017", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LOXL2", "equivalent_identifiers": ["NCBIGene:4017", "ENSEMBL:ENSG00000134013", "HGNC:6666", "OMIM:606663", "UMLS:C1416899", "UniProtKB:Q9Y4K0", "PR:Q9Y4K0", "ENSEMBL:ENSP00000373783", "ENSEMBL:ENSP00000373783.3", "UMLS:C1431859", "MESH:C119091"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y6X4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "soluble lamin-associated protein of 75 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6X4-1", "PR:Q9Y6X4-1", "ENSEMBL:ENSP00000373808", "ENSEMBL:ENSP00000373808.4", "ENSEMBL:ENSP00000508577", "ENSEMBL:ENSP00000508577.1"], "information_content": 100.0}
{"id": "NCBIGene:645811", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC154", "equivalent_identifiers": ["NCBIGene:645811", "ENSEMBL:ENSG00000197599", "HGNC:34454", "OMIM:618740", "UMLS:C2681330", "UniProtKB:A6NI56", "PR:A6NI56", "ENSEMBL:ENSP00000373828", "ENSEMBL:ENSP00000373828.4", "UMLS:C3529398", "MESH:C577149"], "information_content": 100.0}
{"id": "NCBIGene:3681", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITGAD", "equivalent_identifiers": ["NCBIGene:3681", "ENSEMBL:ENSG00000156886", "HGNC:6146", "OMIM:602453", "UMLS:C1416492", "UniProtKB:Q13349", "PR:Q13349", "ENSEMBL:ENSP00000373854", "ENSEMBL:ENSP00000373854.2", "UMLS:C0913641", "MESH:C406812", "UniProtKB:Q59H14"], "information_content": 95.4}
{"id": "UniProtKB:A6ND91-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aspartate dehydrogenase domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6ND91-1", "PR:A6ND91-1", "ENSEMBL:ENSP00000373860", "ENSEMBL:ENSP00000373860.3"], "information_content": 100.0}
{"id": "UniProtKB:P50570-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynamin-2 isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:P50570-4", "PR:P50570-4", "ENSEMBL:ENSP00000373905", "ENSEMBL:ENSP00000373905.4"], "information_content": 100.0}
{"id": "UniProtKB:P41250-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycine--tRNA ligase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P41250-1", "PR:P41250-1", "ENSEMBL:ENSP00000373918", "ENSEMBL:ENSP00000373918.3"], "information_content": 100.0}
{"id": "NCBIGene:283659", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRTG", "equivalent_identifiers": ["NCBIGene:283659", "ENSEMBL:ENSG00000166450", "HGNC:26373", "OMIM:613261", "UMLS:C1826726", "UniProtKB:Q2VWP7", "PR:Q2VWP7", "ENSEMBL:ENSP00000373937", "ENSEMBL:ENSP00000373937.4", "UMLS:C3849514", "MESH:C586510"], "information_content": 95.4}
{"id": "UniProtKB:A5D8W1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 69 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A5D8W1-1", "PR:A5D8W1-1", "ENSEMBL:ENSP00000373948", "ENSEMBL:ENSP00000373948.4"], "information_content": 100.0}
{"id": "UniProtKB:O15360-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fanconi anemia group A protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15360-1", "PR:O15360-1", "ENSEMBL:ENSP00000373952", "ENSEMBL:ENSP00000373952.3"], "information_content": 100.0}
{"id": "NCBIGene:653247", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRB2", "equivalent_identifiers": ["NCBIGene:653247", "ENSEMBL:ENSG00000121335", "HGNC:9338", "OMIM:168810", "UMLS:C1418867", "UniProtKB:P02812", "PR:P02812", "ENSEMBL:ENSP00000374013", "ENSEMBL:ENSP00000374013.4", "UMLS:C1999859", "MESH:C524745"], "information_content": 95.4}
{"id": "UniProtKB:Q9BZW4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane 6 superfamily member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZW4-1", "PR:Q9BZW4-1", "ENSEMBL:ENSP00000374014", "ENSEMBL:ENSP00000374014.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2J0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rabphilin-3A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2J0-1", "PR:Q9Y2J0-1", "ENSEMBL:ENSP00000374036", "ENSEMBL:ENSP00000374036.4", "ENSEMBL:ENSP00000405357", "ENSEMBL:ENSP00000405357.3", "ENSEMBL:ENSP00000440384", "ENSEMBL:ENSP00000440384.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2B5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "VPS9 domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2B5-1", "PR:Q9Y2B5-1", "ENSEMBL:ENSP00000374037", "ENSEMBL:ENSP00000374037.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0G6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal heavy chain 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0G6-1", "PR:Q9C0G6-1", "ENSEMBL:ENSP00000374045", "ENSEMBL:ENSP00000374045.3"], "information_content": 100.0}
{"id": "UniProtKB:A6NCI4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "von Willebrand factor A domain-containing protein 3A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NCI4-1", "PR:A6NCI4-1", "ENSEMBL:ENSP00000374049", "ENSEMBL:ENSP00000374049.5"], "information_content": 100.0}
{"id": "MONDO:0013578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "DYRK1A-related intellectual disability syndrome", "equivalent_identifiers": ["MONDO:0013578", "DOID:0070037", "OMIM:614104", "orphanet:464306", "UMLS:C5568143", "NCIT:C179708", "SNOMEDCT:1179301003", "medgen:1799566"], "information_content": 92.8}
{"id": "UniProtKB:Q92932-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase N2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92932-1", "PR:Q92932-1", "ENSEMBL:ENSP00000374069", "ENSEMBL:ENSP00000374069.4"], "information_content": 100.0}
{"id": "UniProtKB:P59510-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "a disintegrin and metalloproteinase with thrombospondin motifs 20 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P59510-3", "PR:P59510-3", "ENSEMBL:ENSP00000374071", "ENSEMBL:ENSP00000374071.3"], "information_content": 100.0}
{"id": "MONDO:0859152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with cerebellar atrophy and motor dysfunction", "equivalent_identifiers": ["MONDO:0859152", "DOID:0070443", "OMIM:619333", "UMLS:C5543427", "medgen:1781936"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialic acid-binding Ig-like lectin 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMC9-1", "PR:Q6ZMC9-1", "ENSEMBL:ENSP00000374125", "ENSEMBL:ENSP00000374125.2"], "information_content": 100.0}
{"id": "MONDO:0006014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vulvovaginal candidiasis", "equivalent_identifiers": ["MONDO:0006014", "DOID:2272", "EFO:0007543", "UMLS:C0700345", "MESH:D002181", "MEDDRA:10047783", "MEDDRA:10047784", "NCIT:C2914", "SNOMEDCT:72605008", "medgen:195979", "ICD10:B37.3", "ICD9:112.1"], "information_content": 92.8}
{"id": "NCBIGene:53353", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRP1B", "equivalent_identifiers": ["NCBIGene:53353", "ENSEMBL:ENSG00000168702", "HGNC:6693", "OMIM:608766", "UMLS:C1416913", "UniProtKB:Q9NZR2", "PR:Q9NZR2", "ENSEMBL:ENSP00000374135", "ENSEMBL:ENSP00000374135.3", "UMLS:C1448113", "UMLS:C3816181", "MESH:C434476"], "information_content": 100.0}
{"id": "NCBIGene:10322", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMYD5", "equivalent_identifiers": ["NCBIGene:10322", "ENSEMBL:ENSG00000135632", "HGNC:16258", "OMIM:619114", "UMLS:C1424131", "UniProtKB:Q6GMV2", "PR:Q6GMV2", "ENSEMBL:ENSP00000374152", "ENSEMBL:ENSP00000374152.4", "UMLS:C4548728", "MESH:C000625778"], "information_content": 100.0}
{"id": "UniProtKB:Q5T5Y3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calmodulin-regulated spectrin-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T5Y3-1", "PR:Q5T5Y3-1", "ENSEMBL:ENSP00000374183", "ENSEMBL:ENSP00000374183.4"], "information_content": 100.0}
{"id": "UniProtKB:Q16650-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-box brain protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16650-1", "PR:Q16650-1", "ENSEMBL:ENSP00000374205", "ENSEMBL:ENSP00000374205.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96L91-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E1A-binding protein p400 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96L91-2", "PR:Q96L91-2", "ENSEMBL:ENSP00000374212", "ENSEMBL:ENSP00000374212.2"], "information_content": 100.0}
{"id": "UniProtKB:A0FGR9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "extended synaptotagmin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A0FGR9-1", "PR:A0FGR9-1", "ENSEMBL:ENSP00000374218", "ENSEMBL:ENSP00000374218.4"], "information_content": 100.0}
{"id": "MONDO:0001555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neonatal thyrotoxicosis", "equivalent_identifiers": ["MONDO:0001555", "DOID:12573", "UMLS:C0158983", "MEDDRA:10028976", "NCIT:C114906", "SNOMEDCT:13795004", "medgen:510684", "ICD10:P72.1", "ICD9:775.3"], "information_content": 100.0}
{"id": "UniProtKB:O60902-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "short stature homeobox protein 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O60902-3", "PR:O60902-3", "ENSEMBL:ENSP00000374240", "ENSEMBL:ENSP00000374240.4"], "information_content": 100.0}
{"id": "NCBIGene:2877", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPX2", "equivalent_identifiers": ["NCBIGene:2877", "ENSEMBL:ENSG00000176153", "HGNC:4554", "OMIM:138319", "UMLS:C1415276", "UniProtKB:P18283", "PR:P18283", "ENSEMBL:ENSP00000374265", "ENSEMBL:ENSP00000374265.5", "UMLS:C1449233", "MESH:C117436"], "information_content": 95.4}
{"id": "NCBIGene:727936", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GXYLT2", "equivalent_identifiers": ["NCBIGene:727936", "ENSEMBL:ENSG00000172986", "HGNC:33383", "OMIM:613322", "UMLS:C2239497", "UniProtKB:A0PJZ3", "PR:A0PJZ3", "ENSEMBL:ENSP00000374268", "ENSEMBL:ENSP00000374268.4", "UMLS:C5433706", "MESH:C000709067"], "information_content": 100.0}
{"id": "UniProtKB:Q68DQ2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "very large A-kinase anchor protein isoform vlAKAP (human)", "equivalent_identifiers": ["UniProtKB:Q68DQ2-3", "PR:Q68DQ2-3", "ENSEMBL:ENSP00000374273", "ENSEMBL:ENSP00000374273.3"], "information_content": 100.0}
{"id": "NCBIGene:23168", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTF1", "equivalent_identifiers": ["NCBIGene:23168", "ENSEMBL:ENSG00000137815", "HGNC:28996", "OMIM:611633", "UMLS:C1826949", "UniProtKB:Q92541", "PR:Q92541", "ENSEMBL:ENSP00000374280", "ENSEMBL:ENSP00000374280.4", "UMLS:C2352167", "MESH:C527330"], "information_content": 100.0}
{"id": "NCBIGene:284217", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LAMA1", "equivalent_identifiers": ["NCBIGene:284217", "ENSEMBL:ENSG00000101680", "HGNC:6481", "OMIM:150320", "UMLS:C1416775", "UniProtKB:P25391", "PR:P25391", "ENSEMBL:ENSP00000374309", "ENSEMBL:ENSP00000374309.3", "UMLS:C1567884"], "information_content": 88.2}
{"id": "NCBIGene:285220", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPHA6", "equivalent_identifiers": ["NCBIGene:285220", "ENSEMBL:ENSG00000080224", "HGNC:19296", "OMIM:600066", "UMLS:C1539362", "UniProtKB:A0A0B4J1T8", "ENSEMBL:ENSP00000374323", "ENSEMBL:ENSP00000374323.5", "UniProtKB:B3KS12", "UniProtKB:Q9UF33", "PR:Q9UF33", "UMLS:C5575288"]}
{"id": "UniProtKB:Q5TGI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "failed axon connections homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TGI0-1", "PR:Q5TGI0-1", "ENSEMBL:ENSP00000374328", "ENSEMBL:ENSP00000374328.4"], "information_content": 100.0}
{"id": "UniProtKB:Q15631-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "translin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15631-1", "PR:Q15631-1", "ENSEMBL:ENSP00000374332", "ENSEMBL:ENSP00000374332.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6PII5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hydroxyacylglutathione hydrolase-like protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6PII5-2", "PR:Q6PII5-2", "ENSEMBL:ENSP00000374353", "ENSEMBL:ENSP00000374353.3"], "information_content": 100.0}
{"id": "NCBIGene:11340", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXOSC8", "equivalent_identifiers": ["NCBIGene:11340", "ENSEMBL:ENSG00000120699", "HGNC:17035", "OMIM:606019", "UMLS:C1424701", "UniProtKB:Q96B26", "PR:Q96B26", "ENSEMBL:ENSP00000374354", "ENSEMBL:ENSP00000374354.3", "UMLS:C1448308", "MESH:C456279"], "information_content": 89.4}
{"id": "UniProtKB:Q2QGD7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein ZXDC isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2QGD7-1", "PR:Q2QGD7-1", "ENSEMBL:ENSP00000374359", "ENSEMBL:ENSP00000374359.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZTI6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "refilin-A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZTI6-2", "PR:Q6ZTI6-2", "ENSEMBL:ENSP00000315626", "ENSEMBL:ENSP00000315626.3", "ENSEMBL:ENSP00000345898", "ENSEMBL:ENSP00000345898.4", "ENSEMBL:ENSP00000374377", "ENSEMBL:ENSP00000374377.4"], "information_content": 100.0}
{"id": "NCBIGene:115708", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRMT61A", "equivalent_identifiers": ["NCBIGene:115708", "ENSEMBL:ENSG00000166166", "HGNC:23790", "OMIM:620885", "UMLS:C1539047", "UniProtKB:Q96FX7", "PR:Q96FX7", "ENSEMBL:ENSP00000374399", "ENSEMBL:ENSP00000374399.4", "UMLS:C4277436", "MESH:C000605775"], "information_content": 92.8}
{"id": "UniProtKB:Q99569-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plakophilin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99569-1", "PR:Q99569-1", "ENSEMBL:ENSP00000374409", "ENSEMBL:ENSP00000374409.3"], "information_content": 100.0}
{"id": "UniProtKB:P85298-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P85298-1", "PR:P85298-1", "ENSEMBL:ENSP00000374424", "ENSEMBL:ENSP00000374424.2"], "information_content": 100.0}
{"id": "UniProtKB:Q99698-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal-trafficking regulator isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99698-1", "PR:Q99698-1", "ENSEMBL:ENSP00000374443", "ENSEMBL:ENSP00000374443.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2L9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat and calponin homology domain-containing protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2L9-3", "PR:Q9Y2L9-3", "ENSEMBL:ENSP00000374447", "ENSEMBL:ENSP00000374447.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13501-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sequestosome-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13501-1", "PR:Q13501-1", "ENSEMBL:ENSP00000374455", "ENSEMBL:ENSP00000374455.4", "ENSEMBL:ENSP00000491834", "ENSEMBL:ENSP00000491834.2", "ENSEMBL:ENSP00000495843", "ENSEMBL:ENSP00000495843.2"], "information_content": 100.0}
{"id": "NCBIGene:116534", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRGPRE", "equivalent_identifiers": ["NCBIGene:116534", "ENSEMBL:ENSG00000184350", "HGNC:30694", "OMIM:607232", "UMLS:C1428991", "UniProtKB:Q86SM8", "PR:Q86SM8", "ENSEMBL:ENSP00000374482", "ENSEMBL:ENSP00000374482.6", "UniProtKB:W4VSQ4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UFH2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal heavy chain 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UFH2-1", "PR:Q9UFH2-1", "ENSEMBL:ENSP00000374490", "ENSEMBL:ENSP00000374490.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9P219-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Daple isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P219-1", "PR:Q9P219-1", "ENSEMBL:ENSP00000374507", "ENSEMBL:ENSP00000374507.6"], "information_content": 100.0}
{"id": "UniProtKB:O75909-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-K isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75909-3", "PR:O75909-3", "ENSEMBL:ENSP00000374529", "ENSEMBL:ENSP00000374529.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWF9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF216 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWF9-1", "PR:Q9NWF9-1", "ENSEMBL:ENSP00000374552", "ENSEMBL:ENSP00000374552.3"], "information_content": 100.0}
{"id": "NCBIGene:51241", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX16", "equivalent_identifiers": ["NCBIGene:51241", "ENSEMBL:ENSG00000133983", "HGNC:20213", "OMIM:618064", "UMLS:C1426780", "UniProtKB:Q9P0S2", "PR:Q9P0S2", "ENSEMBL:ENSP00000374562", "ENSEMBL:ENSP00000374562.5", "UMLS:C5197528", "MESH:C000632690"], "information_content": 95.4}
{"id": "UniProtKB:A1KXE4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myelin-associated neurite-outgrowth inhibitor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A1KXE4-1", "PR:A1KXE4-1", "ENSEMBL:ENSP00000374565", "ENSEMBL:ENSP00000374565.3", "ENSEMBL:ENSP00000387051", "ENSEMBL:ENSP00000387051.1"], "information_content": 100.0}
{"id": "UniProtKB:Q2TAC6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2TAC6-1", "PR:Q2TAC6-1", "ENSEMBL:ENSP00000374566", "ENSEMBL:ENSP00000374566.4"], "information_content": 100.0}
{"id": "UniProtKB:Q3KNT9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sperm-egg fusion protein TMEM95 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q3KNT9-3", "PR:Q3KNT9-3", "ENSEMBL:ENSP00000374632", "ENSEMBL:ENSP00000374632.4", "ENSEMBL:ENSP00000500075", "ENSEMBL:ENSP00000500075.1"], "information_content": 100.0}
{"id": "UniProtKB:A0AAA9X3B1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0AAA9X3B1_HUMAN Interleukin 17 receptor E like (trembl)", "equivalent_identifiers": ["UniProtKB:A0AAA9X3B1", "ENSEMBL:ENSP00000374633", "ENSEMBL:ENSP00000374633.3"]}
{"id": "NCBIGene:94107", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM203", "equivalent_identifiers": ["NCBIGene:94107", "ENSEMBL:ENSG00000187713", "HGNC:28217", "OMIM:616499", "UMLS:C2240109", "UniProtKB:Q969S6", "PR:Q969S6", "ENSEMBL:ENSP00000375053", "ENSEMBL:ENSP00000375053.4", "UMLS:C4277504", "MESH:C000605314"], "information_content": 95.4}
{"id": "NCBIGene:126206", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NLRP5", "equivalent_identifiers": ["NCBIGene:126206", "HGNC:21269", "OMIM:609658", "UMLS:C1826438", "UniProtKB:P59047", "PR:P59047", "ENSEMBL:ENSP00000375063", "ENSEMBL:ENSP00000375063.3", "UMLS:C2352069", "MESH:C527221"], "information_content": 100.0}
{"id": "NCBIGene:338442", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HCAR2", "equivalent_identifiers": ["NCBIGene:338442", "ENSEMBL:ENSG00000182782", "HGNC:24827", "OMIM:609163", "UMLS:C1539603", "UniProtKB:A0A4Y1JWQ0", "UMLS:C1620083", "MESH:C530636", "UniProtKB:Q8TDS4", "PR:Q8TDS4", "ENSEMBL:ENSP00000375066", "ENSEMBL:ENSP00000375066.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6I1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EP300-interacting inhibitor of differentiation 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6I1-1", "PR:Q8N6I1-1", "ENSEMBL:ENSP00000375073", "ENSEMBL:ENSP00000375073.2"], "information_content": 100.0}
{"id": "NCBIGene:84616", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP4-4", "equivalent_identifiers": ["NCBIGene:84616", "ENSEMBL:ENSG00000171396", "HGNC:16928", "UMLS:C1424643", "UniProtKB:Q9BYR3", "PR:Q9BYR3", "ENSEMBL:ENSP00000375076", "ENSEMBL:ENSP00000375076.3", "ENSEMBL:ENSP00000517792", "ENSEMBL:ENSP00000517792.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5P8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5P8-1", "PR:Q9Y5P8-1", "ENSEMBL:ENSP00000375080", "ENSEMBL:ENSP00000375080.3", "ENSEMBL:ENSP00000518592", "ENSEMBL:ENSP00000518592.1"], "information_content": 100.0}
{"id": "NCBIGene:83942", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSSK1B", "equivalent_identifiers": ["NCBIGene:83942", "ENSEMBL:ENSG00000212122", "HGNC:14968", "OMIM:610709", "UMLS:C1540102", "UniProtKB:A0ZT98", "UMLS:C3661344", "UniProtKB:Q9BXA7", "PR:Q9BXA7", "ENSEMBL:ENSP00000375081", "ENSEMBL:ENSP00000375081.3"], "information_content": 100.0}
{"id": "UniProtKB:O15444-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-C motif chemokine 25 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15444-1", "PR:O15444-1", "ENSEMBL:ENSP00000324756", "ENSEMBL:ENSP00000324756.6", "ENSEMBL:ENSP00000375086", "ENSEMBL:ENSP00000375086.3", "ENSEMBL:ENSP00000504875", "ENSEMBL:ENSP00000504875.1", "ENSEMBL:ENSP00000505422", "ENSEMBL:ENSP00000505422.1"], "information_content": 100.0}
{"id": "NCBIGene:259294", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R19", "equivalent_identifiers": ["NCBIGene:259294", "ENSEMBL:ENSG00000212124", "HGNC:19108", "OMIM:613961", "UMLS:C1426014", "UniProtKB:P59542", "PR:P59542", "ENSEMBL:ENSP00000375091", "ENSEMBL:ENSP00000375091.2", "ENSEMBL:ENSP00000461533", "ENSEMBL:ENSP00000461533.1"], "information_content": 100.0}
{"id": "NCBIGene:337973", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP19-6", "equivalent_identifiers": ["NCBIGene:337973", "ENSEMBL:ENSG00000186925", "HGNC:18941", "UMLS:C1425909", "UniProtKB:A4FU57", "UniProtKB:Q3LI70", "PR:Q3LI70", "ENSEMBL:ENSP00000375107", "ENSEMBL:ENSP00000375107.3"], "information_content": 100.0}
{"id": "NCBIGene:337882", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP19-1", "equivalent_identifiers": ["NCBIGene:337882", "ENSEMBL:ENSG00000184351", "HGNC:18936", "UMLS:C1425904", "UniProtKB:Q8IUB9", "PR:Q8IUB9", "ENSEMBL:ENSP00000375108", "ENSEMBL:ENSP00000375108.2"], "information_content": 100.0}
{"id": "NCBIGene:337960", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP13-3", "equivalent_identifiers": ["NCBIGene:337960", "ENSEMBL:ENSG00000240432", "HGNC:18925", "UMLS:C1425893", "UniProtKB:Q3SY46", "PR:Q3SY46", "ENSEMBL:ENSP00000375109", "ENSEMBL:ENSP00000375109.2"], "information_content": 100.0}
{"id": "NCBIGene:100505753", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP16-1", "equivalent_identifiers": ["NCBIGene:100505753", "ENSEMBL:ENSG00000212657", "HGNC:18916", "UMLS:C1425884", "UniProtKB:A8MUX0", "PR:A8MUX0", "ENSEMBL:ENSP00000375147", "ENSEMBL:ENSP00000375147.1", "ENSEMBL:ENSP00000460805", "ENSEMBL:ENSP00000460805.1", "ENSEMBL:ENSP00000517794", "ENSEMBL:ENSP00000517794.1"], "information_content": 100.0}
{"id": "MONDO:0011873", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Niemann-Pick disease, type C2", "equivalent_identifiers": ["MONDO:0011873", "DOID:0070114", "OMIM:607625", "UMLS:C1843366", "MESH:C536119", "NCIT:C126865", "medgen:335942"], "information_content": 100.0}
{"id": "NCBIGene:100505724", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP9-7", "equivalent_identifiers": ["NCBIGene:100505724", "ENSEMBL:ENSG00000180386", "HGNC:18915", "UMLS:C1425883", "UniProtKB:A8MTY7", "PR:A8MTY7", "ENSEMBL:ENSP00000375149", "ENSEMBL:ENSP00000375149.1", "ENSEMBL:ENSP00000460369", "ENSEMBL:ENSP00000460369.1"], "information_content": 100.0}
{"id": "NCBIGene:100507608", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP9-6", "equivalent_identifiers": ["NCBIGene:100507608", "ENSEMBL:ENSG00000212659", "HGNC:18914", "UMLS:C1425882", "UniProtKB:A8MVA2", "PR:A8MVA2", "ENSEMBL:ENSP00000375150", "ENSEMBL:ENSP00000375150.1", "ENSEMBL:ENSP00000460691", "ENSEMBL:ENSP00000460691.1"], "information_content": 100.0}
{"id": "NCBIGene:85290", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP4-3", "equivalent_identifiers": ["NCBIGene:85290", "ENSEMBL:ENSG00000196156", "HGNC:18908", "UMLS:C1425876", "UniProtKB:Q9BYR4", "PR:Q9BYR4", "ENSEMBL:ENSP00000375151", "ENSEMBL:ENSP00000375151.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96RT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cutaneous T-cell lymphoma-associated antigen 1 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q96RT6-1", "PR:Q96RT6-1", "ENSEMBL:ENSP00000375220", "ENSEMBL:ENSP00000375220.2", "ENSEMBL:ENSP00000489019", "ENSEMBL:ENSP00000489019.1"], "information_content": 100.0}
{"id": "NCBIGene:653240", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP4-11", "equivalent_identifiers": ["NCBIGene:653240", "ENSEMBL:ENSG00000212721", "HGNC:18911", "UMLS:C1425879", "UniProtKB:Q9BYQ6", "PR:Q9BYQ6", "ENSEMBL:ENSP00000375232", "ENSEMBL:ENSP00000375232.2", "ENSEMBL:ENSP00000460506", "ENSEMBL:ENSP00000460506.1", "ENSEMBL:ENSP00000517789", "ENSEMBL:ENSP00000517789.1"], "information_content": 100.0}
{"id": "NCBIGene:100132386", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP4-9", "equivalent_identifiers": ["NCBIGene:100132386", "ENSEMBL:ENSG00000212722", "HGNC:18910", "UMLS:C1425878", "UniProtKB:Q9BYQ8", "PR:Q9BYQ8", "ENSEMBL:ENSP00000375234", "ENSEMBL:ENSP00000375234.1", "ENSEMBL:ENSP00000517801", "ENSEMBL:ENSP00000517801.1"], "information_content": 100.0}
{"id": "MONDO:0004075", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "infiltrating lipoma", "equivalent_identifiers": ["MONDO:0004075", "DOID:7014", "UMLS:C0334473", "MEDDRA:10083556", "NCIT:C7450", "NCIT:C7451", "SNOMEDCT:1295204009", "SNOMEDCT:24045002", "medgen:90788", "HP:0034696"], "information_content": 95.4}
{"id": "NCBIGene:100132476", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP4-7", "equivalent_identifiers": ["NCBIGene:100132476", "ENSEMBL:ENSG00000240871", "HGNC:18898", "UMLS:C1425866", "UniProtKB:Q9BYR0", "PR:Q9BYR0", "ENSEMBL:ENSP00000375236", "ENSEMBL:ENSP00000375236.4", "ENSEMBL:ENSP00000517802", "ENSEMBL:ENSP00000517802.1"], "information_content": 100.0}
{"id": "NCBIGene:727857", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BHLHA9", "equivalent_identifiers": ["NCBIGene:727857", "ENSEMBL:ENSG00000205899", "HGNC:35126", "OMIM:615416", "UMLS:C2681183", "UniProtKB:Q7RTU4", "PR:Q7RTU4", "ENSEMBL:ENSP00000375248", "ENSEMBL:ENSP00000375248.1", "UMLS:C3492040", "MESH:C571985"], "information_content": 100.0}
{"id": "NCBIGene:85293", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP3-3", "equivalent_identifiers": ["NCBIGene:85293", "ENSEMBL:ENSG00000212899", "HGNC:18890", "UMLS:C1425858", "UniProtKB:Q9BYR6", "PR:Q9BYR6", "ENSEMBL:ENSP00000375428", "ENSEMBL:ENSP00000375428.1", "ENSEMBL:ENSP00000458618", "ENSEMBL:ENSP00000458618.1"], "information_content": 100.0}
{"id": "NCBIGene:83897", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP3-2", "equivalent_identifiers": ["NCBIGene:83897", "ENSEMBL:ENSG00000212900", "HGNC:16779", "UMLS:C1424539", "UniProtKB:Q9BYR7", "PR:Q9BYR7", "ENSEMBL:ENSP00000375429", "ENSEMBL:ENSP00000375429.1", "ENSEMBL:ENSP00000459215", "ENSEMBL:ENSP00000459215.1"], "information_content": 100.0}
{"id": "NCBIGene:83896", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP3-1", "equivalent_identifiers": ["NCBIGene:83896", "ENSEMBL:ENSG00000212901", "HGNC:16778", "UMLS:C1424538", "UniProtKB:Q9BYR8", "PR:Q9BYR8", "ENSEMBL:ENSP00000375430", "ENSEMBL:ENSP00000375430.1", "ENSEMBL:ENSP00000459883", "ENSEMBL:ENSP00000459883.1"], "information_content": 95.4}
{"id": "NCBIGene:353332", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP12-1", "equivalent_identifiers": ["NCBIGene:353332", "ENSEMBL:ENSG00000187175", "HGNC:20529", "UMLS:C1426997", "UniProtKB:P59990", "PR:P59990", "ENSEMBL:ENSP00000375475", "ENSEMBL:ENSP00000375475.1"], "information_content": 100.0}
{"id": "NCBIGene:386684", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP12-4", "equivalent_identifiers": ["NCBIGene:386684", "ENSEMBL:ENSG00000212933", "HGNC:20532", "UMLS:C1427000", "UniProtKB:P60329", "PR:P60329", "ENSEMBL:ENSP00000375476", "ENSEMBL:ENSP00000375476.1"], "information_content": 100.0}
{"id": "NCBIGene:386682", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP10-3", "equivalent_identifiers": ["NCBIGene:386682", "ENSEMBL:ENSG00000212935", "HGNC:22968", "UMLS:C1427821", "UniProtKB:P60369", "PR:P60369", "ENSEMBL:ENSP00000375478", "ENSEMBL:ENSP00000375478.1"], "information_content": 100.0}
{"id": "UniProtKB:P60368-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin-associated protein 10-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P60368-1", "PR:P60368-1", "ENSEMBL:ENSP00000375479", "ENSEMBL:ENSP00000375479.1"], "information_content": 100.0}
{"id": "MONDO:0007813", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "superficial epidermolytic ichthyosis", "equivalent_identifiers": ["MONDO:0007813", "DOID:0060877", "OMIM:146800", "orphanet:455", "UMLS:C0432306", "MESH:D053560", "NCIT:C84777", "SNOMEDCT:254169002", "medgen:98153", "icd11.foundation:842172475"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUG6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and SCAN domain-containing protein 5A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUG6-1", "PR:Q9BUG6-1", "ENSEMBL:ENSP00000375593", "ENSEMBL:ENSP00000375593.1", "ENSEMBL:ENSP00000467631", "ENSEMBL:ENSP00000467631.1", "ENSEMBL:ENSP00000507065", "ENSEMBL:ENSP00000507065.1"], "information_content": 100.0}
{"id": "UniProtKB:P43629-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "killer cell immunoglobulin-like receptor 3DL1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43629-1", "PR:P43629-1", "ENSEMBL:ENSP00000375608", "ENSEMBL:ENSP00000375608.4", "ENSEMBL:ENSP00000484036", "ENSEMBL:ENSP00000484036.1", "ENSEMBL:ENSP00000484488", "ENSEMBL:ENSP00000484488.1", "ENSEMBL:ENSP00000484972", "ENSEMBL:ENSP00000484972.1", "ENSEMBL:ENSP00000491550", "ENSEMBL:ENSP00000491550.1", "ENSEMBL:ENSP00000492794", "ENSEMBL:ENSP00000492794.1"], "information_content": 100.0}
{"id": "NCBIGene:11006", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LILRB4", "equivalent_identifiers": ["NCBIGene:11006", "ENSEMBL:ENSG00000186818", "HGNC:6608", "OMIM:604821", "UMLS:C1416860", "UniProtKB:A0A0A0MS20", "ENSEMBL:ENSP00000375613", "ENSEMBL:ENSP00000375613.3", "UniProtKB:A0A0A0MSZ8", "ENSEMBL:ENSP00000408995", "ENSEMBL:ENSP00000408995.2", "UniProtKB:A0A0G2JNL1", "ENSEMBL:ENSP00000481609", "ENSEMBL:ENSP00000481609.1", "UniProtKB:A0A8Q3SHR1", "ENSEMBL:ENSP00000511897", "ENSEMBL:ENSP00000511897.1", "UniProtKB:A8MUE1", "ENSEMBL:ENSP00000375614", "ENSEMBL:ENSP00000375614.3", "UniProtKB:Q8NHJ6", "PR:Q8NHJ6", "ENSEMBL:ENSP00000375616", "ENSEMBL:ENSP00000375616.1", "UMLS:C0539587", "MESH:C107907"], "information_content": 82.6}
{"id": "UniProtKB:Q8N149-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukocyte immunoglobulin-like receptor subfamily A member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N149-1", "PR:Q8N149-1", "ENSEMBL:ENSP00000251377", "ENSEMBL:ENSP00000251377.3", "ENSEMBL:ENSP00000375618", "ENSEMBL:ENSP00000375618.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6GTX8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukocyte-associated immunoglobulin-like receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6GTX8-1", "PR:Q6GTX8-1", "ENSEMBL:ENSP00000375622", "ENSEMBL:ENSP00000375622.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N423-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukocyte immunoglobulin-like receptor subfamily B member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N423-1", "PR:Q8N423-1", "ENSEMBL:ENSP00000375629", "ENSEMBL:ENSP00000375629.4"], "information_content": 100.0}
{"id": "NCBIGene:6203", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS9", "equivalent_identifiers": ["NCBIGene:6203", "ENSEMBL:ENSG00000170889", "HGNC:10442", "OMIM:603631", "UMLS:C1419753", "UniProtKB:A8MXK4", "ENSEMBL:ENSP00000375631", "ENSEMBL:ENSP00000375631.3", "ENSEMBL:ENSP00000481941", "ENSEMBL:ENSP00000481941.1", "UniProtKB:P46781", "PR:P46781", "ENSEMBL:ENSP00000302896", "ENSEMBL:ENSP00000302896.4", "ENSEMBL:ENSP00000375632", "ENSEMBL:ENSP00000375632.1", "ENSEMBL:ENSP00000375633", "ENSEMBL:ENSP00000375633.2", "ENSEMBL:ENSP00000478449", "ENSEMBL:ENSP00000478449.1", "ENSEMBL:ENSP00000479917", "ENSEMBL:ENSP00000479917.1", "ENSEMBL:ENSP00000480135", "ENSEMBL:ENSP00000480135.1", "ENSEMBL:ENSP00000480662", "ENSEMBL:ENSP00000480662.1", "ENSEMBL:ENSP00000481194", "ENSEMBL:ENSP00000481194.1", "ENSEMBL:ENSP00000481553", "ENSEMBL:ENSP00000481553.1", "ENSEMBL:ENSP00000481655", "ENSEMBL:ENSP00000481655.1", "ENSEMBL:ENSP00000481764", "ENSEMBL:ENSP00000481764.1", "ENSEMBL:ENSP00000481822", "ENSEMBL:ENSP00000481822.1", "ENSEMBL:ENSP00000482023", "ENSEMBL:ENSP00000482023.1", "ENSEMBL:ENSP00000482274", "ENSEMBL:ENSP00000482274.1", "ENSEMBL:ENSP00000482338", "ENSEMBL:ENSP00000482338.1", "ENSEMBL:ENSP00000482475", "ENSEMBL:ENSP00000482475.1", "ENSEMBL:ENSP00000483179", "ENSEMBL:ENSP00000483179.1", "ENSEMBL:ENSP00000484394", "ENSEMBL:ENSP00000484394.1"], "information_content": 89.4}
{"id": "UniProtKB:P0C1Z6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TCF3 fusion partner isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0C1Z6-1", "PR:P0C1Z6-1", "ENSEMBL:ENSP00000375639", "ENSEMBL:ENSP00000375639.1", "ENSEMBL:ENSP00000477775", "ENSEMBL:ENSP00000477775.1", "ENSEMBL:ENSP00000480169", "ENSEMBL:ENSP00000480169.1", "ENSEMBL:ENSP00000480353", "ENSEMBL:ENSP00000480353.1", "ENSEMBL:ENSP00000481443", "ENSEMBL:ENSP00000481443.1", "ENSEMBL:ENSP00000482185", "ENSEMBL:ENSP00000482185.1", "ENSEMBL:ENSP00000482785", "ENSEMBL:ENSP00000482785.1", "ENSEMBL:ENSP00000483417", "ENSEMBL:ENSP00000483417.1", "ENSEMBL:ENSP00000483971", "ENSEMBL:ENSP00000483971.1", "ENSEMBL:ENSP00000484685", "ENSEMBL:ENSP00000484685.1"], "information_content": 100.0}
{"id": "NCBIGene:91663", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYADM", "equivalent_identifiers": ["NCBIGene:91663", "ENSEMBL:ENSG00000179820", "HGNC:7544", "OMIM:609959", "UMLS:C1417520", "UniProtKB:Q96S97", "PR:Q96S97", "ENSEMBL:ENSP00000375648", "ENSEMBL:ENSP00000375648.2", "ENSEMBL:ENSP00000375649", "ENSEMBL:ENSP00000375649.2", "ENSEMBL:ENSP00000375650", "ENSEMBL:ENSP00000375650.4", "ENSEMBL:ENSP00000375651", "ENSEMBL:ENSP00000375651.1", "ENSEMBL:ENSP00000398269", "ENSEMBL:ENSP00000398269.2", "UMLS:C1438862", "MESH:C405987"], "information_content": 95.4}
{"id": "UniProtKB:P59046-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NACHT, LRR and PYD domains-containing protein 12 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:P59046-7", "PR:P59046-7", "ENSEMBL:ENSP00000375653", "ENSEMBL:ENSP00000375653.1"], "information_content": 100.0}
{"id": "NCBIGene:43847", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLK14", "equivalent_identifiers": ["NCBIGene:43847", "ENSEMBL:ENSG00000129437", "HGNC:6362", "OMIM:606135", "UMLS:C1416674", "UniProtKB:A0A1R3UHJ7", "ENSEMBL:ENSP00000156499", "ENSEMBL:ENSP00000156499.3", "ENSEMBL:ENSP00000497141", "ENSEMBL:ENSP00000497141.1", "UMLS:C0965955", "MESH:C425336", "UniProtKB:Q9P0G3", "PR:Q9P0G3", "ENSEMBL:ENSP00000375678", "ENSEMBL:ENSP00000375678.1"], "information_content": 100.0}
{"id": "UniProtKB:O60259-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kallikrein-8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60259-2", "PR:O60259-2", "ENSEMBL:ENSP00000375682", "ENSEMBL:ENSP00000375682.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96B36-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich AKT1 substrate 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96B36-3", "PR:Q96B36-3", "ENSEMBL:ENSP00000375711", "ENSEMBL:ENSP00000375711.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86YD1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostate tumor-overexpressed gene 1 protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YD1-1", "PR:Q86YD1-1", "ENSEMBL:ENSP00000375717", "ENSEMBL:ENSP00000375717.1", "ENSEMBL:ENSP00000469128", "ENSEMBL:ENSP00000469128.1", "ENSEMBL:ENSP00000472816", "ENSEMBL:ENSP00000472816.1"], "information_content": 100.0}
{"id": "NCBIGene:23521", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL13A", "equivalent_identifiers": ["NCBIGene:23521", "ENSEMBL:ENSG00000142541", "HGNC:10304", "OMIM:619225", "UMLS:C1419630", "UniProtKB:A0A384ME37", "UMLS:C1438641", "MESH:C402487", "UniProtKB:P40429", "PR:P40429", "ENSEMBL:ENSP00000375730", "ENSEMBL:ENSP00000375730.4", "UMLS:C3641868", "UniProtKB:Q8J015", "ENSEMBL:ENSP00000477755", "ENSEMBL:ENSP00000477755.1"], "information_content": 88.2}
{"id": "UniProtKB:Q8N414-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "piggyBac transposable element-derived protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N414-1", "PR:Q8N414-1", "ENSEMBL:ENSP00000375733", "ENSEMBL:ENSP00000375733.2"], "information_content": 100.0}
{"id": "NCBIGene:3770", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNJ14", "equivalent_identifiers": ["NCBIGene:3770", "ENSEMBL:ENSG00000182324", "HGNC:6260", "OMIM:603953", "UMLS:C1416581", "UniProtKB:Q9UNX9", "PR:Q9UNX9", "ENSEMBL:ENSP00000341479", "ENSEMBL:ENSP00000341479.1", "ENSEMBL:ENSP00000375756", "ENSEMBL:ENSP00000375756.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9NRL3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "striatin-4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRL3-3", "PR:Q9NRL3-3", "ENSEMBL:ENSP00000375777", "ENSEMBL:ENSP00000375777.1"], "information_content": 100.0}
{"id": "NCBIGene:3914", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LAMB3", "equivalent_identifiers": ["NCBIGene:3914", "ENSEMBL:ENSG00000196878", "HGNC:6490", "OMIM:150310", "UMLS:C1416783", "UniProtKB:A0A0S2Z3R6", "UMLS:C1527803", "MESH:C000728020", "UniProtKB:Q13751", "PR:Q13751", "ENSEMBL:ENSP00000348384", "ENSEMBL:ENSP00000348384.3", "ENSEMBL:ENSP00000355997", "ENSEMBL:ENSP00000355997.3", "ENSEMBL:ENSP00000375778", "ENSEMBL:ENSP00000375778.1"], "information_content": 92.8}
{"id": "NCBIGene:147906", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DACT3", "equivalent_identifiers": ["NCBIGene:147906", "ENSEMBL:ENSG00000197380", "HGNC:30745", "OMIM:611112", "UMLS:C1824881", "UniProtKB:A0A0C4DFP1", "ENSEMBL:ENSP00000300875", "ENSEMBL:ENSP00000300875.4", "UniProtKB:Q96B18", "PR:Q96B18", "ENSEMBL:ENSP00000375783", "ENSEMBL:ENSP00000375783.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13007-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-24 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13007-2", "PR:Q13007-2", "ENSEMBL:ENSP00000375795", "ENSEMBL:ENSP00000375795.3"], "information_content": 100.0}
{"id": "MONDO:0956969", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic inducible urticaria", "equivalent_identifiers": ["MONDO:0956969", "DOID:0080748", "UMLS:C5197720", "MESH:D000094482", "medgen:1678519"], "information_content": 100.0}
{"id": "MONDO:0006534", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholinergic urticaria", "equivalent_identifiers": ["MONDO:0006534", "DOID:14443", "EFO:1000679", "UMLS:C0152230", "MEDDRA:10008675", "MEDDRA:10046740", "SNOMEDCT:73098005", "medgen:508939", "icd11.foundation:855107748", "ICD10:L50.5", "ICD9:708.5"], "information_content": 100.0}
{"id": "UniProtKB:P18074-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription and DNA repair factor IIH helicase subunit XPD isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P18074-1", "PR:P18074-1", "ENSEMBL:ENSP00000375809", "ENSEMBL:ENSP00000375809.4", "ENSEMBL:ENSP00000507019", "ENSEMBL:ENSP00000507019.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6P597-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin light chain 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P597-1", "PR:Q6P597-1", "ENSEMBL:ENSP00000375810", "ENSEMBL:ENSP00000375810.2"], "information_content": 100.0}
{"id": "UniProtKB:O60237-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1 regulatory subunit 12B isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:O60237-6", "PR:O60237-6", "ENSEMBL:ENSP00000375821", "ENSEMBL:ENSP00000375821.5"], "information_content": 100.0}
{"id": "NCBIGene:3898", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LAD1", "equivalent_identifiers": ["NCBIGene:3898", "ENSEMBL:ENSG00000159166", "HGNC:6472", "OMIM:602314", "UMLS:C1416770", "UniProtKB:O00515", "PR:O00515", "ENSEMBL:ENSP00000375829", "ENSEMBL:ENSP00000375829.2", "UMLS:C5828784", "MESH:C000727047"], "information_content": 100.0}
{"id": "MONDO:0011281", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 5", "equivalent_identifiers": ["MONDO:0011281", "DOID:0110667", "OMIM:603034", "UMLS:C1864233", "MESH:C566415", "NCIT:C129304", "medgen:400481"], "information_content": 100.0}
{"id": "UniProtKB:Q00341-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vigilin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q00341-1", "PR:Q00341-1", "ENSEMBL:ENSP00000312042", "ENSEMBL:ENSP00000312042.4", "ENSEMBL:ENSP00000375836", "ENSEMBL:ENSP00000375836.1", "ENSEMBL:ENSP00000375837", "ENSEMBL:ENSP00000375837.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9HC96-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calpain-10 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9HC96-1", "PR:Q9HC96-1", "ENSEMBL:ENSP00000375844", "ENSEMBL:ENSP00000375844.2"], "information_content": 100.0}
{"id": "NCBIGene:150677", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTOS", "equivalent_identifiers": ["NCBIGene:150677", "ENSEMBL:ENSG00000178602", "HGNC:22644", "OMIM:607877", "UMLS:C1427772", "UniProtKB:Q8NHW6", "PR:Q8NHW6", "ENSEMBL:ENSP00000322486", "ENSEMBL:ENSP00000322486.1", "ENSEMBL:ENSP00000375849", "ENSEMBL:ENSP00000375849.2", "UMLS:C1609182", "MESH:C503045"], "information_content": 95.4}
{"id": "UniProtKB:P20941-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosducin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20941-1", "PR:P20941-1", "ENSEMBL:ENSP00000375855", "ENSEMBL:ENSP00000375855.2"], "information_content": 100.0}
{"id": "UniProtKB:Q32MZ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat flightless-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q32MZ4-1", "PR:Q32MZ4-1", "ENSEMBL:ENSP00000375857", "ENSEMBL:ENSP00000375857.4"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZNR0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 91 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZNR0-1", "PR:Q6ZNR0-1", "ENSEMBL:ENSP00000375859", "ENSEMBL:ENSP00000375859.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUJ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein U-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUJ2-1", "PR:Q9BUJ2-1", "ENSEMBL:ENSP00000375863", "ENSEMBL:ENSP00000375863.2"], "information_content": 100.0}
{"id": "NCBIGene:55054", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATG16L1", "equivalent_identifiers": ["NCBIGene:55054", "ENSEMBL:ENSG00000085978", "HGNC:21498", "OMIM:610767", "UMLS:C1825502", "UniProtKB:E7EVC7", "ENSEMBL:ENSP00000375873", "ENSEMBL:ENSP00000375873.1", "ENSEMBL:ENSP00000486603", "ENSEMBL:ENSP00000486603.1", "UniProtKB:Q17RG0", "UniProtKB:Q676U5", "PR:Q676U5", "UMLS:C1870238", "MESH:C518959"]}
{"id": "NCBIGene:250", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALPP", "equivalent_identifiers": ["NCBIGene:250", "ENSEMBL:ENSG00000163283", "HGNC:439", "OMIM:171800", "UMLS:C1412365", "UniProtKB:B2R7C7", "UniProtKB:P05187", "PR:P05187", "ENSEMBL:ENSP00000375881", "ENSEMBL:ENSP00000375881.2", "UMLS:C2930591"], "information_content": 88.2}
{"id": "NCBIGene:29946", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERTAD3", "equivalent_identifiers": ["NCBIGene:29946", "ENSEMBL:ENSG00000167565", "HGNC:17931", "OMIM:612125", "UMLS:C1425185", "UniProtKB:Q9UJW9", "PR:Q9UJW9", "ENSEMBL:ENSP00000325414", "ENSEMBL:ENSP00000325414.2", "ENSEMBL:ENSP00000375882", "ENSEMBL:ENSP00000375882.3", "UMLS:C1439188", "MESH:C413405"], "information_content": 100.0}
{"id": "UniProtKB:P31751-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RAC-beta serine/threonine-protein kinase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P31751-1", "PR:P31751-1", "ENSEMBL:ENSP00000375892", "ENSEMBL:ENSP00000375892.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13342-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear body protein SP140 isoform hLYSp100-B (human)", "equivalent_identifiers": ["UniProtKB:Q13342-1", "PR:Q13342-1", "ENSEMBL:ENSP00000375899", "ENSEMBL:ENSP00000375899.3"], "information_content": 100.0}
{"id": "NCBIGene:148003", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LGALS16", "equivalent_identifiers": ["NCBIGene:148003", "ENSEMBL:ENSG00000249861", "HGNC:40039", "UMLS:C3470563", "UniProtKB:A8MUM7", "PR:A8MUM7", "ENSEMBL:ENSP00000375904", "ENSEMBL:ENSP00000375904.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TEB9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rhomboid-related protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEB9-1", "PR:Q8TEB9-1", "ENSEMBL:ENSP00000344779", "ENSEMBL:ENSP00000344779.3", "ENSEMBL:ENSP00000375914", "ENSEMBL:ENSP00000375914.2"], "information_content": 100.0}
{"id": "UniProtKB:P23760-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paired box protein Pax-3 isoform hPax3E (human)", "equivalent_identifiers": ["UniProtKB:P23760-8", "PR:P23760-8", "ENSEMBL:ENSP00000375921", "ENSEMBL:ENSP00000375921.2"], "information_content": 100.0}
{"id": "NCBIGene:9654", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTLL4", "equivalent_identifiers": ["NCBIGene:9654", "ENSEMBL:ENSG00000135912", "HGNC:28976", "OMIM:618738", "UMLS:C1428761", "UniProtKB:Q14679", "PR:Q14679", "ENSEMBL:ENSP00000258398", "ENSEMBL:ENSP00000258398.4", "ENSEMBL:ENSP00000375951", "ENSEMBL:ENSP00000375951.1"], "information_content": 92.8}
{"id": "NCBIGene:7520", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XRCC5", "equivalent_identifiers": ["NCBIGene:7520", "ENSEMBL:ENSG00000079246", "HGNC:12833", "OMIM:194364", "UMLS:C1337034", "UniProtKB:P13010", "PR:P13010", "ENSEMBL:ENSP00000375977", "ENSEMBL:ENSP00000375977.2", "ENSEMBL:ENSP00000375978", "ENSEMBL:ENSP00000375978.3", "UMLS:C0064435", "MESH:C106893"], "information_content": 81.3}
{"id": "UniProtKB:Q9Y6R4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6R4-1", "PR:Q9Y6R4-1", "ENSEMBL:ENSP00000375986", "ENSEMBL:ENSP00000375986.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8NA58-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly(A)-specific ribonuclease PNLDC1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8NA58-2", "PR:Q8NA58-2", "ENSEMBL:ENSP00000376007", "ENSEMBL:ENSP00000376007.3"], "information_content": 100.0}
{"id": "NCBIGene:51429", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNX9", "equivalent_identifiers": ["NCBIGene:51429", "ENSEMBL:ENSG00000130340", "HGNC:14973", "OMIM:605952", "UMLS:C1423100", "UniProtKB:Q9Y5X1", "PR:Q9Y5X1", "ENSEMBL:ENSP00000376024", "ENSEMBL:ENSP00000376024.3", "ENSEMBL:ENSP00000506326", "ENSEMBL:ENSP00000506326.1", "UMLS:C1438566", "MESH:C400533"], "information_content": 79.0}
{"id": "NCBIGene:27033", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB32", "equivalent_identifiers": ["NCBIGene:27033", "ENSEMBL:ENSG00000011590", "HGNC:16763", "OMIM:605859", "UMLS:C1823904", "UniProtKB:A0A0C4DGF1", "ENSEMBL:ENSP00000433657", "ENSEMBL:ENSP00000433657.1", "UniProtKB:Q9Y2Y4", "PR:Q9Y2Y4", "ENSEMBL:ENSP00000262630", "ENSEMBL:ENSP00000262630.3", "ENSEMBL:ENSP00000376035", "ENSEMBL:ENSP00000376035.1", "UMLS:C1450210", "MESH:C498646"], "information_content": 90.9}
{"id": "UniProtKB:P20916-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myelin-associated glycoprotein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P20916-1", "PR:P20916-1", "ENSEMBL:ENSP00000376048", "ENSEMBL:ENSP00000376048.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6P1L5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM117B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P1L5-1", "PR:Q6P1L5-1", "ENSEMBL:ENSP00000376071", "ENSEMBL:ENSP00000376071.2"], "information_content": 100.0}
{"id": "UniProtKB:P63165-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ubiquitin-related modifier 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P63165-1", "PR:P63165-1", "ENSEMBL:ENSP00000376076", "ENSEMBL:ENSP00000376076.1", "ENSEMBL:ENSP00000376077", "ENSEMBL:ENSP00000376077.2"], "information_content": 100.0}
{"id": "UniProtKB:O94763-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional prefoldin RPB5 interactor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94763-1", "PR:O94763-1", "ENSEMBL:ENSP00000376097", "ENSEMBL:ENSP00000376097.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NP31-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH2 domain-containing protein 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP31-2", "PR:Q9NP31-2", "ENSEMBL:ENSP00000376123", "ENSEMBL:ENSP00000376123.2"], "information_content": 100.0}
{"id": "UniProtKB:O43795-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-Ib isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43795-1", "PR:O43795-1", "ENSEMBL:ENSP00000306382", "ENSEMBL:ENSP00000306382.4", "ENSEMBL:ENSP00000376132", "ENSEMBL:ENSP00000376132.3"], "information_content": 100.0}
{"id": "NCBIGene:56270", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR45B", "equivalent_identifiers": ["NCBIGene:56270", "ENSEMBL:ENSG00000141580", "HGNC:25072", "OMIM:609226", "UMLS:C1538089", "UniProtKB:Q5MNZ6", "PR:Q5MNZ6", "ENSEMBL:ENSP00000376139", "ENSEMBL:ENSP00000376139.4", "UMLS:C4743470", "MESH:C000629188"], "information_content": 92.8}
{"id": "NCBIGene:54842", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MFSD6", "equivalent_identifiers": ["NCBIGene:54842", "ENSEMBL:ENSG00000151690", "HGNC:24711", "OMIM:613476", "UMLS:C2681661", "UniProtKB:B7Z7Y2", "UniProtKB:Q6ZSS7", "PR:Q6ZSS7", "ENSEMBL:ENSP00000281416", "ENSEMBL:ENSP00000281416.7", "ENSEMBL:ENSP00000376141", "ENSEMBL:ENSP00000376141.1"], "information_content": 100.0}
{"id": "NCBIGene:3628", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INPP1", "equivalent_identifiers": ["NCBIGene:3628", "ENSEMBL:ENSG00000151689", "HGNC:6071", "OMIM:147263", "UMLS:C1416440", "UniProtKB:P49441", "PR:P49441", "ENSEMBL:ENSP00000325423", "ENSEMBL:ENSP00000325423.4", "ENSEMBL:ENSP00000376142", "ENSEMBL:ENSP00000376142.2", "UMLS:C2002069", "UniProtKB:Q6IBG4"], "information_content": 83.6}
{"id": "UniProtKB:Q2TAC2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 57 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q2TAC2-2", "PR:Q2TAC2-2", "ENSEMBL:ENSP00000376154", "ENSEMBL:ENSP00000376154.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13098-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "COP9 signalosome complex subunit 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13098-7", "PR:Q13098-7", "ENSEMBL:ENSP00000376167", "ENSEMBL:ENSP00000376167.2"], "information_content": 100.0}
{"id": "NCBIGene:10203", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CALCRL", "equivalent_identifiers": ["NCBIGene:10203", "ENSEMBL:ENSG00000064989", "HGNC:16709", "OMIM:114190", "UMLS:C1424497", "UniProtKB:Q16602", "PR:Q16602", "ENSEMBL:ENSP00000376177", "ENSEMBL:ENSP00000376177.3", "ENSEMBL:ENSP00000386972", "ENSEMBL:ENSP00000386972.1", "ENSEMBL:ENSP00000387190", "ENSEMBL:ENSP00000387190.1", "UMLS:C1739715", "MESH:C545578"], "information_content": 95.4}
{"id": "UniProtKB:P32856-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P32856-1", "PR:P32856-1", "ENSEMBL:ENSP00000376178", "ENSEMBL:ENSP00000376178.2"], "information_content": 100.0}
{"id": "NCBIGene:622", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BDH1", "equivalent_identifiers": ["NCBIGene:622", "ENSEMBL:ENSG00000161267", "HGNC:1027", "OMIM:603063", "UMLS:C1826418", "UniProtKB:A0A384MTY4", "UniProtKB:E9PCG9", "ENSEMBL:ENSP00000411014", "ENSEMBL:ENSP00000411014.1", "ENSEMBL:ENSP00000486316", "ENSEMBL:ENSP00000486316.1", "UniProtKB:Q02338", "PR:Q02338", "ENSEMBL:ENSP00000350914", "ENSEMBL:ENSP00000350914.2", "ENSEMBL:ENSP00000376183", "ENSEMBL:ENSP00000376183.2", "ENSEMBL:ENSP00000376184", "ENSEMBL:ENSP00000376184.1", "ENSEMBL:ENSP00000482744", "ENSEMBL:ENSP00000482744.1", "ENSEMBL:ENSP00000484421", "ENSEMBL:ENSP00000484421.1"], "information_content": 90.9}
{"id": "NCBIGene:9244", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRLF1", "equivalent_identifiers": ["NCBIGene:9244", "ENSEMBL:ENSG00000006016", "HGNC:2364", "OMIM:604237", "UMLS:C1413713", "UniProtKB:O75462", "PR:O75462", "ENSEMBL:ENSP00000376188", "ENSEMBL:ENSP00000376188.2", "UMLS:C0755504", "UMLS:C3539575"], "information_content": 95.4}
{"id": "NCBIGene:7037", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TFRC", "equivalent_identifiers": ["NCBIGene:7037", "ENSEMBL:ENSG00000072274", "HGNC:11763", "OMIM:190010", "UMLS:C1420708", "UniProtKB:A0A8V8TM46", "ENSEMBL:ENSP00000513650", "ENSEMBL:ENSP00000513650.1", "ENSEMBL:ENSP00000513651", "ENSEMBL:ENSP00000513651.1", "UniProtKB:A8K6Q8", "UniProtKB:B7Z2I6", "UniProtKB:G3V0E5", "ENSEMBL:ENSP00000390133", "ENSEMBL:ENSP00000390133.1", "UniProtKB:P02786", "PR:P02786", "ENSEMBL:ENSP00000353224", "ENSEMBL:ENSP00000353224.4", "ENSEMBL:ENSP00000376197", "ENSEMBL:ENSP00000376197.3", "ENSEMBL:ENSP00000513646", "ENSEMBL:ENSP00000513646.1", "ENSEMBL:ENSP00000513654", "ENSEMBL:ENSP00000513654.1", "UMLS:C0108801"], "information_content": 76.5}
{"id": "UniProtKB:Q9NR48-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase ASH1L isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR48-2", "PR:Q9NR48-2", "ENSEMBL:ENSP00000376204", "ENSEMBL:ENSP00000376204.3", "ENSEMBL:ENSP00000503265", "ENSEMBL:ENSP00000503265.1", "ENSEMBL:ENSP00000503315", "ENSEMBL:ENSP00000503315.1", "ENSEMBL:ENSP00000504629", "ENSEMBL:ENSP00000504629.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0B3-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IQ domain-containing protein N isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0B3-4", "PR:Q9H0B3-4", "ENSEMBL:ENSP00000376213", "ENSEMBL:ENSP00000376213.2"], "information_content": 100.0}
{"id": "NCBIGene:114801", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM200A", "equivalent_identifiers": ["NCBIGene:114801", "ENSEMBL:ENSG00000164484", "HGNC:21075", "UMLS:C2240105", "UniProtKB:Q86VY9", "PR:Q86VY9", "ENSEMBL:ENSP00000296978", "ENSEMBL:ENSP00000296978.3", "ENSEMBL:ENSP00000376224", "ENSEMBL:ENSP00000376224.1", "ENSEMBL:ENSP00000438928", "ENSEMBL:ENSP00000438928.1", "ENSEMBL:ENSP00000480294", "ENSEMBL:ENSP00000480294.1"], "information_content": 90.9}
{"id": "MONDO:0013249", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 84A", "equivalent_identifiers": ["MONDO:0013249", "DOID:0110529", "OMIM:613391", "UMLS:C3150654", "medgen:462004"], "information_content": 100.0}
{"id": "UniProtKB:Q2T9K0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 44 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2T9K0-1", "PR:Q2T9K0-1", "ENSEMBL:ENSP00000376227", "ENSEMBL:ENSP00000376227.2"], "information_content": 100.0}
{"id": "NCBIGene:151963", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MB21D2", "equivalent_identifiers": ["NCBIGene:151963", "ENSEMBL:ENSG00000180611", "HGNC:30438", "OMIM:620914", "UMLS:C3147784", "UniProtKB:Q8IYB1", "PR:Q8IYB1", "ENSEMBL:ENSP00000376246", "ENSEMBL:ENSP00000376246.2", "UMLS:C4318396", "MESH:C000719073"], "information_content": 89.4}
{"id": "UniProtKB:Q8IVM0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 50 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVM0-2", "PR:Q8IVM0-2", "ENSEMBL:ENSP00000376249", "ENSEMBL:ENSP00000376249.4"], "information_content": 100.0}
{"id": "UniProtKB:Q969K3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF34 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q969K3-2", "PR:Q969K3-2", "ENSEMBL:ENSP00000376258", "ENSEMBL:ENSP00000376258.3"], "information_content": 100.0}
{"id": "MONDO:0010698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "optic atrophy 2", "equivalent_identifiers": ["MONDO:0010698", "DOID:0111443", "OMIM:311050", "orphanet:98890", "UMLS:C1839576", "MESH:C537125", "SNOMEDCT:721200000", "medgen:326915"], "information_content": 100.0}
{"id": "UniProtKB:Q92503-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SEC14-like protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92503-2", "PR:Q92503-2", "ENSEMBL:ENSP00000376268", "ENSEMBL:ENSP00000376268.2", "ENSEMBL:ENSP00000406030", "ENSEMBL:ENSP00000406030.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8NI08-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor coactivator 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NI08-1", "PR:Q8NI08-1", "ENSEMBL:ENSP00000357341", "ENSEMBL:ENSP00000357341.3", "ENSEMBL:ENSP00000376269", "ENSEMBL:ENSP00000376269.2"], "information_content": 100.0}
{"id": "UniProtKB:P35249-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "replication factor C subunit 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35249-1", "PR:P35249-1", "ENSEMBL:ENSP00000296273", "ENSEMBL:ENSP00000296273.2", "ENSEMBL:ENSP00000376272", "ENSEMBL:ENSP00000376272.2"], "information_content": 100.0}
{"id": "UniProtKB:Q01130-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/arginine-rich splicing factor 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q01130-1", "PR:Q01130-1", "ENSEMBL:ENSP00000353089", "ENSEMBL:ENSP00000353089.5", "ENSEMBL:ENSP00000376276", "ENSEMBL:ENSP00000376276.2", "ENSEMBL:ENSP00000391278", "ENSEMBL:ENSP00000391278.3", "ENSEMBL:ENSP00000462425", "ENSEMBL:ENSP00000462425.1"], "information_content": 100.0}
{"id": "NCBIGene:55891", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LENEP", "equivalent_identifiers": ["NCBIGene:55891", "ENSEMBL:ENSG00000163352", "HGNC:14429", "OMIM:607377", "UMLS:C1422639", "UniProtKB:Q9Y5L5", "PR:Q9Y5L5", "ENSEMBL:ENSP00000357412", "ENSEMBL:ENSP00000357412.3", "ENSEMBL:ENSP00000376278", "ENSEMBL:ENSP00000376278.1", "UMLS:C1310037", "MESH:C431569"], "information_content": 95.4}
{"id": "NCBIGene:1427", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRYGS", "equivalent_identifiers": ["NCBIGene:1427", "ENSEMBL:ENSG00000213139", "HGNC:2417", "OMIM:123730", "UMLS:C1413740", "UniProtKB:A0A140CTX8", "UMLS:C1608538", "MESH:C077648", "UniProtKB:P22914", "PR:P22914", "ENSEMBL:ENSP00000312099", "ENSEMBL:ENSP00000312099.5", "ENSEMBL:ENSP00000376287", "ENSEMBL:ENSP00000376287.2"], "information_content": 95.4}
{"id": "UniProtKB:Q9BZF3-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxysterol-binding protein-related protein 6 isoform 5 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZF3-5", "PR:Q9BZF3-5", "ENSEMBL:ENSP00000376293", "ENSEMBL:ENSP00000376293.2"], "information_content": 100.0}
{"id": "NCBIGene:8655", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYNLL1", "equivalent_identifiers": ["NCBIGene:8655", "ENSEMBL:ENSG00000088986", "HGNC:15476", "OMIM:601562", "UMLS:C1825012", "UniProtKB:P63167", "PR:P63167", "ENSEMBL:ENSP00000242577", "ENSEMBL:ENSP00000242577.6", "ENSEMBL:ENSP00000376296", "ENSEMBL:ENSP00000376296.2", "ENSEMBL:ENSP00000376297", "ENSEMBL:ENSP00000376297.2", "ENSEMBL:ENSP00000446614", "ENSEMBL:ENSP00000446614.1", "ENSEMBL:ENSP00000447907", "ENSEMBL:ENSP00000447907.1", "UMLS:C1447993", "MESH:C427758", "UniProtKB:Q6FGH9"], "information_content": 89.4}
{"id": "UniProtKB:Q8TCG5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyl thioesterase CPT1C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCG5-1", "PR:Q8TCG5-1", "ENSEMBL:ENSP00000319343", "ENSEMBL:ENSP00000319343.4", "ENSEMBL:ENSP00000376303", "ENSEMBL:ENSP00000376303.4", "ENSEMBL:ENSP00000473028", "ENSEMBL:ENSP00000473028.1"], "information_content": 100.0}
{"id": "UniProtKB:O14578-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "citron Rho-interacting kinase isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O14578-4", "PR:O14578-4", "ENSEMBL:ENSP00000376306", "ENSEMBL:ENSP00000376306.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86SX3-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin epsilon and delta complex protein 1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q86SX3-6", "PR:Q86SX3-6", "ENSEMBL:ENSP00000376307", "ENSEMBL:ENSP00000376307.3"], "information_content": 100.0}
{"id": "UniProtKB:P51991-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein A3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51991-1", "PR:P51991-1", "ENSEMBL:ENSP00000376309", "ENSEMBL:ENSP00000376309.2", "ENSEMBL:ENSP00000416340", "ENSEMBL:ENSP00000416340.1", "ENSEMBL:ENSP00000503593", "ENSEMBL:ENSP00000503593.1", "ENSEMBL:ENSP00000504135", "ENSEMBL:ENSP00000504135.1", "ENSEMBL:ENSP00000504152", "ENSEMBL:ENSP00000504152.1"], "information_content": 100.0}
{"id": "NCBIGene:51347", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAOK3", "equivalent_identifiers": ["NCBIGene:51347", "ENSEMBL:ENSG00000135090", "HGNC:18133", "OMIM:616711", "UMLS:C1539924", "UniProtKB:G3V1Q8", "ENSEMBL:ENSP00000443834", "ENSEMBL:ENSP00000443834.1", "UniProtKB:Q9H2K8", "PR:Q9H2K8", "ENSEMBL:ENSP00000376317", "ENSEMBL:ENSP00000376317.3", "ENSEMBL:ENSP00000416374", "ENSEMBL:ENSP00000416374.2", "UMLS:C5197551", "MESH:C000632945"], "information_content": 90.9}
{"id": "NCBIGene:3239", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXD13", "equivalent_identifiers": ["NCBIGene:3239", "ENSEMBL:ENSG00000128714", "HGNC:5136", "OMIM:142989", "UMLS:C1415687", "UniProtKB:P35453", "PR:P35453", "ENSEMBL:ENSP00000376322", "ENSEMBL:ENSP00000376322.3", "UMLS:C1673277", "UMLS:C3273506", "MESH:C513184"], "information_content": 100.0}
{"id": "UniProtKB:O43516-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WAS/WASL-interacting protein family member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43516-1", "PR:O43516-1", "ENSEMBL:ENSP00000352802", "ENSEMBL:ENSP00000352802.3", "ENSEMBL:ENSP00000376329", "ENSEMBL:ENSP00000376329.2", "ENSEMBL:ENSP00000376330", "ENSEMBL:ENSP00000376330.2", "ENSEMBL:ENSP00000388454", "ENSEMBL:ENSP00000388454.2", "ENSEMBL:ENSP00000503603", "ENSEMBL:ENSP00000503603.1", "ENSEMBL:ENSP00000513869", "ENSEMBL:ENSP00000513869.1", "ENSEMBL:ENSP00000513882", "ENSEMBL:ENSP00000513882.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6P1M3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LLGL scribble cell polarity complex component 2 isoform C (human)", "equivalent_identifiers": ["UniProtKB:Q6P1M3-1", "PR:Q6P1M3-1", "ENSEMBL:ENSP00000376333", "ENSEMBL:ENSP00000376333.4"], "information_content": 100.0}
{"id": "NCBIGene:151556", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR155", "equivalent_identifiers": ["NCBIGene:151556", "ENSEMBL:ENSG00000163328", "HGNC:22951", "OMIM:620855", "UMLS:C1427806", "UniProtKB:A0A087WXK4", "ENSEMBL:ENSP00000481104", "ENSEMBL:ENSP00000481104.1", "UMLS:C4705907", "MESH:C000627431", "UniProtKB:Q49AJ5", "UniProtKB:Q7Z3F1", "PR:Q7Z3F1", "ENSEMBL:ENSP00000295500", "ENSEMBL:ENSP00000295500.4", "ENSEMBL:ENSP00000376334", "ENSEMBL:ENSP00000376334.2", "ENSEMBL:ENSP00000376335", "ENSEMBL:ENSP00000376335.2"], "information_content": 95.4}
{"id": "UniProtKB:Q96KE9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96KE9-3", "PR:Q96KE9-3", "ENSEMBL:ENSP00000376337", "ENSEMBL:ENSP00000376337.4"], "information_content": 100.0}
{"id": "UniProtKB:P62993-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "growth factor receptor-bound protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62993-1", "PR:P62993-1", "ENSEMBL:ENSP00000339007", "ENSEMBL:ENSP00000339007.4", "ENSEMBL:ENSP00000376345", "ENSEMBL:ENSP00000376345.1", "ENSEMBL:ENSP00000376347", "ENSEMBL:ENSP00000376347.1", "ENSEMBL:ENSP00000496913", "ENSEMBL:ENSP00000496913.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15118-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15118-2", "PR:Q15118-2", "ENSEMBL:ENSP00000376352", "ENSEMBL:ENSP00000376352.2"], "information_content": 100.0}
{"id": "NCBIGene:8936", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WASF1", "equivalent_identifiers": ["NCBIGene:8936", "ENSEMBL:ENSG00000112290", "HGNC:12732", "OMIM:605035", "UMLS:C1421479", "UniProtKB:Q92558", "PR:Q92558", "ENSEMBL:ENSP00000352425", "ENSEMBL:ENSP00000352425.2", "ENSEMBL:ENSP00000376365", "ENSEMBL:ENSP00000376365.1", "ENSEMBL:ENSP00000376366", "ENSEMBL:ENSP00000376366.2", "ENSEMBL:ENSP00000376367", "ENSEMBL:ENSP00000376367.1", "ENSEMBL:ENSP00000376368", "ENSEMBL:ENSP00000376368.1", "UMLS:C1447693", "MESH:C114864"], "information_content": 82.1}
{"id": "NCBIGene:326624", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB37", "equivalent_identifiers": ["NCBIGene:326624", "ENSEMBL:ENSG00000172794", "HGNC:30268", "OMIM:609956", "UMLS:C1428951", "UniProtKB:A0A9H3ZVF6", "ENSEMBL:ENSP00000376390", "ENSEMBL:ENSP00000376390.5", "UniProtKB:B3KPZ5", "UniProtKB:B7Z3L0", "ENSEMBL:ENSP00000432086", "ENSEMBL:ENSP00000432086.1", "UniProtKB:Q96AX2", "PR:Q96AX2"]}
{"id": "NCBIGene:342510", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD300E", "equivalent_identifiers": ["NCBIGene:342510", "ENSEMBL:ENSG00000186407", "HGNC:28874", "OMIM:609801", "UMLS:C1824678", "UniProtKB:B4E0V9", "UMLS:C1531079", "MESH:C519444", "UniProtKB:Q496F6", "PR:Q496F6", "ENSEMBL:ENSP00000376395", "ENSEMBL:ENSP00000376395.2"], "information_content": 83.6}
{"id": "NCBIGene:124599", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD300LB", "equivalent_identifiers": ["NCBIGene:124599", "ENSEMBL:ENSG00000178789", "HGNC:30811", "OMIM:610705", "UMLS:C1824679", "UniProtKB:A8K4G0", "PR:A8K4G0", "ENSEMBL:ENSP00000376397", "ENSEMBL:ENSP00000376397.2", "ENSEMBL:ENSP00000517556", "ENSEMBL:ENSP00000517556.1", "ENSEMBL:ENSP00000520719", "ENSEMBL:ENSP00000520719.1", "UMLS:C1739758", "MESH:C519445"], "information_content": 95.4}
{"id": "UniProtKB:Q27J81-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inverted formin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q27J81-1", "PR:Q27J81-1", "ENSEMBL:ENSP00000376410", "ENSEMBL:ENSP00000376410.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEN0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "armadillo repeat-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEN0-1", "PR:Q8NEN0-1", "ENSEMBL:ENSP00000376417", "ENSEMBL:ENSP00000376417.4"], "information_content": 100.0}
{"id": "NCBIGene:151230", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHL23", "equivalent_identifiers": ["NCBIGene:151230", "ENSEMBL:ENSG00000213160", "HGNC:27506", "UMLS:C1825725", "UniProtKB:Q8NBE8", "PR:Q8NBE8", "ENSEMBL:ENSP00000272797", "ENSEMBL:ENSP00000272797.4", "ENSEMBL:ENSP00000376419", "ENSEMBL:ENSP00000376419.2"], "information_content": 84.8}
{"id": "UniProtKB:Q58EX2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein sidekick-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q58EX2-1", "PR:Q58EX2-1", "ENSEMBL:ENSP00000376421", "ENSEMBL:ENSP00000376421.3"], "information_content": 100.0}
{"id": "NCBIGene:6700", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPRR2A", "equivalent_identifiers": ["NCBIGene:6700", "ENSEMBL:ENSG00000241794", "HGNC:11261", "OMIM:182267", "UMLS:C1420374", "UniProtKB:P35326", "PR:P35326", "ENSEMBL:ENSP00000376423", "ENSEMBL:ENSP00000376423.2", "UMLS:C1449035", "MESH:C101744"], "information_content": 100.0}
{"id": "UniProtKB:P48048-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-sensitive inward rectifier potassium channel 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48048-1", "PR:P48048-1", "ENSEMBL:ENSP00000376432", "ENSEMBL:ENSP00000376432.2"], "information_content": 100.0}
{"id": "UniProtKB:P14921-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein C-ets-1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P14921-3", "PR:P14921-3", "ENSEMBL:ENSP00000376436", "ENSEMBL:ENSP00000376436.3"], "information_content": 100.0}
{"id": "NCBIGene:144715", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAD9B", "equivalent_identifiers": ["NCBIGene:144715", "ENSEMBL:ENSG00000151164", "HGNC:21700", "OMIM:608368", "UMLS:C1427703", "UniProtKB:B4DX60", "ENSEMBL:ENSP00000386434", "ENSEMBL:ENSP00000386434.1", "UMLS:C1455178", "UniProtKB:B4DYM6", "ENSEMBL:ENSP00000386697", "ENSEMBL:ENSP00000386697.3", "UniProtKB:J3KPN7", "ENSEMBL:ENSP00000376440", "ENSEMBL:ENSP00000376440.4", "UniProtKB:Q6WBX8", "PR:Q6WBX8", "UMLS:C3815185"]}
{"id": "MONDO:0011702", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1L", "equivalent_identifiers": ["MONDO:0011702", "DOID:0110436", "OMIM:606685", "UMLS:C1847667", "MESH:C564679", "medgen:335735"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWZ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cholesterol transporter ABCA5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWZ7-1", "PR:Q8WWZ7-1", "ENSEMBL:ENSP00000376443", "ENSEMBL:ENSP00000376443.2", "ENSEMBL:ENSP00000467882", "ENSEMBL:ENSP00000467882.1"], "information_content": 100.0}
{"id": "UniProtKB:P58753-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Toll/interleukin-1 receptor domain-containing adapter protein isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P58753-2", "PR:P58753-2", "ENSEMBL:ENSP00000376445", "ENSEMBL:ENSP00000376445.3", "ENSEMBL:ENSP00000515019", "ENSEMBL:ENSP00000515019.1", "ENSEMBL:ENSP00000515021", "ENSEMBL:ENSP00000515021.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMG9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ceramide synthase 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMG9-2", "PR:Q6ZMG9-2", "ENSEMBL:ENSP00000376453", "ENSEMBL:ENSP00000376453.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H8V3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ECT2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8V3-1", "PR:Q9H8V3-1", "ENSEMBL:ENSP00000376457", "ENSEMBL:ENSP00000376457.3"], "information_content": 100.0}
{"id": "UniProtKB:Q4KMG0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell adhesion molecule-related/down-regulated by oncogenes isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4KMG0-1", "PR:Q4KMG0-1", "ENSEMBL:ENSP00000376458", "ENSEMBL:ENSP00000376458.3", "ENSEMBL:ENSP00000507318", "ENSEMBL:ENSP00000507318.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14435-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypeptide N-acetylgalactosaminyltransferase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14435-1", "PR:Q14435-1", "ENSEMBL:ENSP00000376465", "ENSEMBL:ENSP00000376465.3", "ENSEMBL:ENSP00000520447", "ENSEMBL:ENSP00000520447.1"], "information_content": 100.0}
{"id": "UniProtKB:P46977-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P46977-1", "PR:P46977-1", "ENSEMBL:ENSP00000376472", "ENSEMBL:ENSP00000376472.3", "ENSEMBL:ENSP00000436962", "ENSEMBL:ENSP00000436962.1", "ENSEMBL:ENSP00000497336", "ENSEMBL:ENSP00000497336.1"], "information_content": 100.0}
{"id": "UniProtKB:P10644-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cAMP-dependent protein kinase type I-alpha regulatory subunit isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P10644-1", "PR:P10644-1", "ENSEMBL:ENSP00000351410", "ENSEMBL:ENSP00000351410.1", "ENSEMBL:ENSP00000376475", "ENSEMBL:ENSP00000376475.1", "ENSEMBL:ENSP00000445625", "ENSEMBL:ENSP00000445625.1", "ENSEMBL:ENSP00000464715", "ENSEMBL:ENSP00000464715.2", "ENSEMBL:ENSP00000464977", "ENSEMBL:ENSP00000464977.2", "ENSEMBL:ENSP00000465013", "ENSEMBL:ENSP00000465013.2", "ENSEMBL:ENSP00000465445", "ENSEMBL:ENSP00000465445.2", "ENSEMBL:ENSP00000466459", "ENSEMBL:ENSP00000466459.1", "ENSEMBL:ENSP00000466649", "ENSEMBL:ENSP00000466649.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13114-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TNF receptor-associated factor 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13114-1", "PR:Q13114-1", "ENSEMBL:ENSP00000376500", "ENSEMBL:ENSP00000376500.3", "ENSEMBL:ENSP00000454207", "ENSEMBL:ENSP00000454207.1", "ENSEMBL:ENSP00000514678", "ENSEMBL:ENSP00000514678.1"], "information_content": 100.0}
{"id": "NCBIGene:11235", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDCD10", "equivalent_identifiers": ["NCBIGene:11235", "ENSEMBL:ENSG00000114209", "HGNC:8761", "OMIM:609118", "UMLS:C1418402", "UniProtKB:Q9BUL8", "PR:Q9BUL8", "ENSEMBL:ENSP00000376506", "ENSEMBL:ENSP00000376506.2", "ENSEMBL:ENSP00000417202", "ENSEMBL:ENSP00000417202.1", "ENSEMBL:ENSP00000418317", "ENSEMBL:ENSP00000418317.2", "ENSEMBL:ENSP00000420021", "ENSEMBL:ENSP00000420021.1", "ENSEMBL:ENSP00000420553", "ENSEMBL:ENSP00000420553.2", "UMLS:C1531301", "MESH:C495390"], "information_content": 95.4}
{"id": "UniProtKB:Q8N8E3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 112 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8E3-1", "PR:Q8N8E3-1", "ENSEMBL:ENSP00000376522", "ENSEMBL:ENSP00000376522.2", "ENSEMBL:ENSP00000442784", "ENSEMBL:ENSP00000442784.2"], "information_content": 100.0}
{"id": "NCBIGene:55800", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCN3B", "equivalent_identifiers": ["NCBIGene:55800", "ENSEMBL:ENSG00000166257", "HGNC:20665", "OMIM:608214", "UMLS:C1427065", "UniProtKB:Q9NY72", "PR:Q9NY72", "ENSEMBL:ENSP00000299333", "ENSEMBL:ENSP00000299333.3", "ENSEMBL:ENSP00000376523", "ENSEMBL:ENSP00000376523.2", "ENSEMBL:ENSP00000432785", "ENSEMBL:ENSP00000432785.1", "ENSEMBL:ENSP00000499439", "ENSEMBL:ENSP00000499439.1", "ENSEMBL:ENSP00000499755", "ENSEMBL:ENSP00000499755.1", "UMLS:C1529132", "MESH:C493324"], "information_content": 92.8}
{"id": "UniProtKB:Q9UIF8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain adjacent to zinc finger domain protein 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIF8-1", "PR:Q9UIF8-1", "ENSEMBL:ENSP00000376534", "ENSEMBL:ENSP00000376534.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86UP6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CUB and zona pellucida-like domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UP6-1", "PR:Q86UP6-1", "ENSEMBL:ENSP00000376540", "ENSEMBL:ENSP00000376540.1"], "information_content": 100.0}
{"id": "NCBIGene:7007", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TECTA", "equivalent_identifiers": ["NCBIGene:7007", "ENSEMBL:ENSG00000109927", "HGNC:11720", "OMIM:602574", "UMLS:C1420683", "UniProtKB:O75443", "PR:O75443", "ENSEMBL:ENSP00000264037", "ENSEMBL:ENSP00000264037.2", "ENSEMBL:ENSP00000376543", "ENSEMBL:ENSP00000376543.1", "UMLS:C1174297", "UMLS:C3815899", "MESH:C491350"], "information_content": 92.8}
{"id": "MONDO:0008471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia congenita", "equivalent_identifiers": ["MONDO:0008471", "DOID:14789", "OMIM:183900", "orphanet:94068", "UMLS:C2745959", "MESH:C535788", "MEDDRA:10062920", "MEDDRA:10074799", "SNOMEDCT:278713008", "medgen:412530"], "information_content": 100.0}
{"id": "UniProtKB:P40259-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-cell antigen receptor complex-associated protein beta chain isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P40259-3", "PR:P40259-3", "ENSEMBL:ENSP00000376544", "ENSEMBL:ENSP00000376544.3"], "information_content": 100.0}
{"id": "MONDO:0002714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central nervous system cancer", "equivalent_identifiers": ["MONDO:0002714", "DOID:3620", "EFO:0000326", "UMLS:C0085136", "MESH:D016543", "MEDDRA:10007958", "MEDDRA:10007959", "MEDDRA:10009714", "MEDDRA:10009715", "MEDDRA:10009716", "MEDDRA:10028992", "NCIT:C4627", "SNOMEDCT:126951006", "medgen:87593", "ICD10:C72.9", "HP:0100006"], "information_content": 57.2}
{"id": "NCBIGene:338773", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM119", "equivalent_identifiers": ["NCBIGene:338773", "ENSEMBL:ENSG00000183160", "HGNC:27884", "OMIM:618989", "UMLS:C1823380", "UniProtKB:Q4V9L6", "PR:Q4V9L6", "ENSEMBL:ENSP00000376553", "ENSEMBL:ENSP00000376553.3"], "information_content": 95.4}
{"id": "NCBIGene:83590", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMUB1", "equivalent_identifiers": ["NCBIGene:83590", "ENSEMBL:ENSG00000164897", "HGNC:21709", "OMIM:614792", "UMLS:C1823455", "UniProtKB:A0A090N8Q3", "UniProtKB:Q9BVT8", "PR:Q9BVT8", "ENSEMBL:ENSP00000297533", "ENSEMBL:ENSP00000297533.4", "ENSEMBL:ENSP00000376565", "ENSEMBL:ENSP00000376565.3", "ENSEMBL:ENSP00000417519", "ENSEMBL:ENSP00000417519.1", "ENSEMBL:ENSP00000418709", "ENSEMBL:ENSP00000418709.1", "ENSEMBL:ENSP00000419214", "ENSEMBL:ENSP00000419214.1"], "information_content": 95.4}
{"id": "NCBIGene:55188", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RIC8B", "equivalent_identifiers": ["NCBIGene:55188", "ENSEMBL:ENSG00000111785", "HGNC:25555", "OMIM:609147", "UMLS:C1826829", "UniProtKB:B7WPL0", "ENSEMBL:ENSP00000376582", "ENSEMBL:ENSP00000376582.4", "UMLS:C2933579", "MESH:C549039", "UniProtKB:Q9NVN3", "PR:Q9NVN3"]}
{"id": "NCBIGene:57150", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM8", "equivalent_identifiers": ["NCBIGene:57150", "ENSEMBL:ENSG00000111850", "HGNC:21401", "UMLS:C1427546", "UniProtKB:Q96KF7", "PR:Q96KF7", "ENSEMBL:ENSP00000229570", "ENSEMBL:ENSP00000229570.5", "ENSEMBL:ENSP00000376603", "ENSEMBL:ENSP00000376603.1", "ENSEMBL:ENSP00000476945", "ENSEMBL:ENSP00000476945.1", "ENSEMBL:ENSP00000477133", "ENSEMBL:ENSP00000477133.1", "UniProtKB:V9GYF9", "ENSEMBL:ENSP00000476709", "ENSEMBL:ENSP00000476709.1"], "information_content": 100.0}
{"id": "UniProtKB:Q4AE62-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA-queuosine alpha-mannosyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4AE62-1", "PR:Q4AE62-1", "ENSEMBL:ENSP00000339750", "ENSEMBL:ENSP00000339750.4", "ENSEMBL:ENSP00000376608", "ENSEMBL:ENSP00000376608.1", "ENSEMBL:ENSP00000386581", "ENSEMBL:ENSP00000386581.1", "ENSEMBL:ENSP00000438323", "ENSEMBL:ENSP00000438323.1", "ENSEMBL:ENSP00000507713", "ENSEMBL:ENSP00000507713.1"], "information_content": 100.0}
{"id": "MONDO:0007944", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Treacher Collins syndrome 1", "equivalent_identifiers": ["MONDO:0007944", "DOID:0080789", "OMIM:154500"], "information_content": 100.0}
{"id": "NCBIGene:2869", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRK5", "equivalent_identifiers": ["NCBIGene:2869", "ENSEMBL:ENSG00000198873", "HGNC:4544", "OMIM:600870", "UMLS:C1333699", "UniProtKB:P34947", "PR:P34947", "ENSEMBL:ENSP00000376609", "ENSEMBL:ENSP00000376609.2", "UMLS:C0217310", "MESH:C517898"], "information_content": 90.9}
{"id": "NCBIGene:6996", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TDG", "equivalent_identifiers": ["NCBIGene:6996", "ENSEMBL:ENSG00000139372", "HGNC:11700", "OMIM:601423", "UMLS:C1442760", "UniProtKB:B4DI29", "UniProtKB:B4E127", "ENSEMBL:ENSP00000445899", "ENSEMBL:ENSP00000445899.1", "UniProtKB:G8JL98", "ENSEMBL:ENSP00000266775", "ENSEMBL:ENSP00000266775.9", "UniProtKB:Q13569", "PR:Q13569", "ENSEMBL:ENSP00000376611", "ENSEMBL:ENSP00000376611.3", "UMLS:C4316851"], "information_content": 92.8}
{"id": "MONDO:0001104", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "toxic diffuse goiter", "equivalent_identifiers": ["MONDO:0001104", "DOID:10719", "UMLS:C0154138", "UMLS:C0342122", "MEDDRA:10044139", "MEDDRA:10044141", "MEDDRA:10044142", "SNOMEDCT:267374005", "medgen:488851", "ICD9:242.00", "HP:0011784"], "information_content": 85.5}
{"id": "UniProtKB:P0DML3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chorionic somatomammotropin hormone 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0DML3-1", "PR:P0DML3-1", "ENSEMBL:ENSP00000376623", "ENSEMBL:ENSP00000376623.2"], "information_content": 100.0}
{"id": "UniProtKB:P05019-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "insulin-like growth factor 1 isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:P05019-4", "PR:P05019-4", "ENSEMBL:ENSP00000376637", "ENSEMBL:ENSP00000376637.1", "ENSEMBL:ENSP00000376638", "ENSEMBL:ENSP00000376638.3"], "information_content": 100.0}
{"id": "UniProtKB:Q56UN5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q56UN5-1", "PR:Q56UN5-1", "ENSEMBL:ENSP00000365005", "ENSEMBL:ENSP00000365005.3", "ENSEMBL:ENSP00000376647", "ENSEMBL:ENSP00000376647.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UI08-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ena/VASP-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UI08-2", "PR:Q9UI08-2", "ENSEMBL:ENSP00000376652", "ENSEMBL:ENSP00000376652.3"], "information_content": 100.0}
{"id": "NCBIGene:50511", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYCP3", "equivalent_identifiers": ["NCBIGene:50511", "ENSEMBL:ENSG00000139351", "HGNC:18130", "OMIM:604759", "UMLS:C1425334", "UniProtKB:Q8IZU3", "PR:Q8IZU3", "ENSEMBL:ENSP00000266743", "ENSEMBL:ENSP00000266743.2", "ENSEMBL:ENSP00000376655", "ENSEMBL:ENSP00000376655.1", "ENSEMBL:ENSP00000376658", "ENSEMBL:ENSP00000376658.3", "UMLS:C1505466", "MESH:C490060"], "information_content": 100.0}
{"id": "NCBIGene:6876", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAGLN", "equivalent_identifiers": ["NCBIGene:6876", "ENSEMBL:ENSG00000149591", "HGNC:11553", "OMIM:600818", "UMLS:C1420578", "UniProtKB:Q01995", "PR:Q01995", "ENSEMBL:ENSP00000278968", "ENSEMBL:ENSP00000278968.6", "ENSEMBL:ENSP00000376678", "ENSEMBL:ENSP00000376678.4", "ENSEMBL:ENSP00000431941", "ENSEMBL:ENSP00000431941.1", "ENSEMBL:ENSP00000432054", "ENSEMBL:ENSP00000432054.1", "ENSEMBL:ENSP00000432282", "ENSEMBL:ENSP00000432282.1", "UMLS:C1429758", "UniProtKB:Q5U0D2"], "information_content": 87.2}
{"id": "NCBIGene:167691", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCA5", "equivalent_identifiers": ["NCBIGene:167691", "ENSEMBL:ENSG00000135338", "HGNC:31923", "OMIM:611408", "UMLS:C1537529", "UniProtKB:A0A384MDJ7", "UMLS:C1999843", "MESH:C522405", "UniProtKB:Q86VQ0", "PR:Q86VQ0", "ENSEMBL:ENSP00000358861", "ENSEMBL:ENSP00000358861.4", "ENSEMBL:ENSP00000376686", "ENSEMBL:ENSP00000376686.1"], "information_content": 100.0}
{"id": "UniProtKB:Q32M45-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anoctamin-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q32M45-1", "PR:Q32M45-1", "ENSEMBL:ENSP00000376703", "ENSEMBL:ENSP00000376703.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5GFL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "von Willebrand factor A domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5GFL6-1", "PR:Q5GFL6-1", "ENSEMBL:ENSP00000376708", "ENSEMBL:ENSP00000376708.3"], "information_content": 100.0}
{"id": "UniProtKB:O14908-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PDZ domain-containing protein GIPC1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14908-1", "PR:O14908-1", "ENSEMBL:ENSP00000340698", "ENSEMBL:ENSP00000340698.1", "ENSEMBL:ENSP00000376753", "ENSEMBL:ENSP00000376753.3", "ENSEMBL:ENSP00000466747", "ENSEMBL:ENSP00000466747.1"], "information_content": 100.0}
{"id": "NCBIGene:10401", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIAS3", "equivalent_identifiers": ["NCBIGene:10401", "ENSEMBL:ENSG00000131788", "HGNC:16861", "OMIM:605987", "UMLS:C1335211", "UniProtKB:B3KNI3", "UniProtKB:Q9Y6X2", "PR:Q9Y6X2", "ENSEMBL:ENSP00000376765", "ENSEMBL:ENSP00000376765.2", "UMLS:C1436394", "MESH:C484745"], "information_content": 89.4}
{"id": "UniProtKB:Q6ZUT1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein NKAPD1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZUT1-2", "PR:Q6ZUT1-2", "ENSEMBL:ENSP00000376767", "ENSEMBL:ENSP00000376767.3"], "information_content": 100.0}
{"id": "NCBIGene:1621", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DBH", "equivalent_identifiers": ["NCBIGene:1621", "ENSEMBL:ENSG00000123454", "HGNC:2689", "OMIM:609312", "UMLS:C1413916", "UniProtKB:P09172", "PR:P09172", "ENSEMBL:ENSP00000376776", "ENSEMBL:ENSP00000376776.2"], "information_content": 100.0}
{"id": "MONDO:0006792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperglobulinemic purpura", "equivalent_identifiers": ["MONDO:0006792", "DOID:3325", "EFO:1000972", "UMLS:C0034151", "MESH:D011694", "SNOMEDCT:402852007", "medgen:19585"], "information_content": 100.0}
{"id": "NCBIGene:5450", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POU2AF1", "equivalent_identifiers": ["NCBIGene:5450", "ENSEMBL:ENSG00000110777", "HGNC:9211", "OMIM:601206", "UMLS:C1418760", "UniProtKB:Q16633", "PR:Q16633", "ENSEMBL:ENSP00000376786", "ENSEMBL:ENSP00000376786.3", "UMLS:C1384559", "MESH:C091546"], "information_content": 88.2}
{"id": "UniProtKB:Q96AJ9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vesicle transport through interaction with t-SNAREs homolog 1A isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q96AJ9-2", "PR:Q96AJ9-2", "ENSEMBL:ENSP00000376792", "ENSEMBL:ENSP00000376792.2"], "information_content": 100.0}
{"id": "MONDO:0011336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hemophagocytic lymphohistiocytosis 4", "equivalent_identifiers": ["MONDO:0011336", "DOID:0110924", "OMIM:603552", "UMLS:C1863728", "MESH:C537252", "NCIT:C203461", "medgen:350245"], "information_content": 92.8}
{"id": "NCBIGene:136319", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTPN", "equivalent_identifiers": ["NCBIGene:136319", "ENSEMBL:ENSG00000105887", "HGNC:15667", "OMIM:606484", "UMLS:C1423644", "UniProtKB:P58546", "PR:P58546", "ENSEMBL:ENSP00000376800", "ENSEMBL:ENSP00000376800.3", "UMLS:C1622287", "UniProtKB:Q69YG1"], "information_content": 87.2}
{"id": "NCBIGene:1800", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPEP1", "equivalent_identifiers": ["NCBIGene:1800", "ENSEMBL:ENSG00000015413", "HGNC:3002", "OMIM:179780", "UMLS:C1414134", "UniProtKB:A0A140VJI3", "UMLS:C1608785", "UniProtKB:P16444", "PR:P16444", "ENSEMBL:ENSP00000261615", "ENSEMBL:ENSP00000261615.4", "ENSEMBL:ENSP00000376807", "ENSEMBL:ENSP00000376807.3", "ENSEMBL:ENSP00000397313", "ENSEMBL:ENSP00000397313.1", "ENSEMBL:ENSP00000508584", "ENSEMBL:ENSP00000508584.1"], "information_content": 92.8}
{"id": "NCBIGene:8065", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CUL5", "equivalent_identifiers": ["NCBIGene:8065", "ENSEMBL:ENSG00000166266", "HGNC:2556", "OMIM:601741", "UMLS:C1332813", "UniProtKB:Q93034", "PR:Q93034", "ENSEMBL:ENSP00000376808", "ENSEMBL:ENSP00000376808.2", "ENSEMBL:ENSP00000435376", "ENSEMBL:ENSP00000435376.1", "UMLS:C1333166", "UMLS:C1566114", "MESH:C496871"], "information_content": 87.2}
{"id": "UniProtKB:Q658P3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metalloreductase STEAP3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q658P3-2", "PR:Q658P3-2", "ENSEMBL:ENSP00000376822", "ENSEMBL:ENSP00000376822.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BWK5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell cycle regulator of non-homologous end joining isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWK5-1", "PR:Q9BWK5-1", "ENSEMBL:ENSP00000376823", "ENSEMBL:ENSP00000376823.3"], "information_content": 100.0}
{"id": "NCBIGene:122509", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFI27L1", "equivalent_identifiers": ["NCBIGene:122509", "ENSEMBL:ENSG00000165948", "HGNC:19754", "OMIM:611320", "UMLS:C1426388", "UniProtKB:Q96BM0", "PR:Q96BM0", "ENSEMBL:ENSP00000376824", "ENSEMBL:ENSP00000376824.3", "ENSEMBL:ENSP00000451851", "ENSEMBL:ENSP00000451851.1", "ENSEMBL:ENSP00000480235", "ENSEMBL:ENSP00000480235.1", "ENSEMBL:ENSP00000485930", "ENSEMBL:ENSP00000485930.1"], "information_content": 100.0}
{"id": "MONDO:0014513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nemaline myopathy 10", "equivalent_identifiers": ["MONDO:0014513", "DOID:0110931", "OMIM:616165", "UMLS:C4015360", "medgen:863797"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXB0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tectonic-like complex member MKS1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXB0-1", "PR:Q9NXB0-1", "ENSEMBL:ENSP00000376827", "ENSEMBL:ENSP00000376827.2"], "information_content": 100.0}
{"id": "NCBIGene:669", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BPGM", "equivalent_identifiers": ["NCBIGene:669", "ENSEMBL:ENSG00000172331", "HGNC:1093", "OMIM:613896", "UMLS:C1412816", "UniProtKB:A0A024R782", "UniProtKB:P07738", "PR:P07738", "ENSEMBL:ENSP00000342032", "ENSEMBL:ENSP00000342032.3", "ENSEMBL:ENSP00000376840", "ENSEMBL:ENSP00000376840.2", "ENSEMBL:ENSP00000399838", "ENSEMBL:ENSP00000399838.1", "UMLS:C5780719"], "information_content": 92.8}
{"id": "UniProtKB:Q86XR5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich membrane anchor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XR5-1", "PR:Q86XR5-1", "ENSEMBL:ENSP00000376848", "ENSEMBL:ENSP00000376848.1", "ENSEMBL:ENSP00000376851", "ENSEMBL:ENSP00000376851.1", "ENSEMBL:ENSP00000479082", "ENSEMBL:ENSP00000479082.1", "ENSEMBL:ENSP00000486953", "ENSEMBL:ENSP00000486953.1"], "information_content": 100.0}
{"id": "UniProtKB:P51878-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase-5 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P51878-5", "PR:P51878-5", "ENSEMBL:ENSP00000376849", "ENSEMBL:ENSP00000376849.2", "ENSEMBL:ENSP00000436877", "ENSEMBL:ENSP00000436877.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N608-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive dipeptidyl peptidase 10 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N608-3", "PR:Q8N608-3", "ENSEMBL:ENSP00000376855", "ENSEMBL:ENSP00000376855.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "platelet-derived growth factor D isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZP0-1", "PR:Q9GZP0-1", "ENSEMBL:ENSP00000376865", "ENSEMBL:ENSP00000376865.2"], "information_content": 100.0}
{"id": "UniProtKB:P22392-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoside diphosphate kinase B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P22392-1", "PR:P22392-1", "ENSEMBL:ENSP00000376886", "ENSEMBL:ENSP00000376886.1", "ENSEMBL:ENSP00000421064", "ENSEMBL:ENSP00000421064.1", "ENSEMBL:ENSP00000425581", "ENSEMBL:ENSP00000425581.1", "ENSEMBL:ENSP00000426901", "ENSEMBL:ENSP00000426901.1", "ENSEMBL:ENSP00000426976", "ENSEMBL:ENSP00000426976.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWZ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-1 family member 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWZ1-1", "PR:Q8WWZ1-1", "ENSEMBL:ENSP00000341794", "ENSEMBL:ENSP00000341794.2", "ENSEMBL:ENSP00000376893", "ENSEMBL:ENSP00000376893.2"], "information_content": 100.0}
{"id": "NCBIGene:5738", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTGFRN", "equivalent_identifiers": ["NCBIGene:5738", "ENSEMBL:ENSG00000134247", "HGNC:9601", "OMIM:601204", "UMLS:C1419069", "UniProtKB:Q9P2B2", "PR:Q9P2B2", "ENSEMBL:ENSP00000376899", "ENSEMBL:ENSP00000376899.2", "UMLS:C1436185", "UMLS:C3539828", "MESH:C486331"], "information_content": 90.9}
{"id": "UniProtKB:Q8N9N5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein BANP isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9N5-1", "PR:Q8N9N5-1", "ENSEMBL:ENSP00000286122", "ENSEMBL:ENSP00000286122.7", "ENSEMBL:ENSP00000376902", "ENSEMBL:ENSP00000376902.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96JM4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat- and IQ domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JM4-4", "PR:Q96JM4-4", "ENSEMBL:ENSP00000376910", "ENSEMBL:ENSP00000376910.2"], "information_content": 100.0}
{"id": "UniProtKB:Q99538-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "legumain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99538-1", "PR:Q99538-1", "ENSEMBL:ENSP00000334052", "ENSEMBL:ENSP00000334052.4", "ENSEMBL:ENSP00000376911", "ENSEMBL:ENSP00000376911.2"], "information_content": 100.0}
{"id": "NCBIGene:51747", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LUC7L3", "equivalent_identifiers": ["NCBIGene:51747", "ENSEMBL:ENSG00000108848", "HGNC:24309", "OMIM:609434", "UMLS:C1836205", "UniProtKB:A8K3C5", "UniProtKB:J3KPP4", "ENSEMBL:ENSP00000376919", "ENSEMBL:ENSP00000376919.2", "UniProtKB:O95232", "PR:O95232", "UniProtKB:Q86Y74"]}
{"id": "UniProtKB:Q96CW9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "netrin-G2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CW9-1", "PR:Q96CW9-1", "ENSEMBL:ENSP00000376921", "ENSEMBL:ENSP00000376921.3"], "information_content": 100.0}
{"id": "UniProtKB:O94876-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane and coiled-coil domains protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94876-1", "PR:O94876-1", "ENSEMBL:ENSP00000376930", "ENSEMBL:ENSP00000376930.3"], "information_content": 100.0}
{"id": "UniProtKB:O43521-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Bcl-2-like protein 11 isoform BimEL (human)", "equivalent_identifiers": ["UniProtKB:O43521-1", "PR:O43521-1", "ENSEMBL:ENSP00000376943", "ENSEMBL:ENSP00000376943.2", "ENSEMBL:ENSP00000520413", "ENSEMBL:ENSP00000520413.1"], "information_content": 95.4}
{"id": "UniProtKB:Q96AY2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "crossover junction endonuclease EME1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96AY2-2", "PR:Q96AY2-2", "ENSEMBL:ENSP00000376952", "ENSEMBL:ENSP00000376952.2", "ENSEMBL:ENSP00000421700", "ENSEMBL:ENSP00000421700.2"], "information_content": 100.0}
{"id": "UniProtKB:Q68D51-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DENN domain-containing protein 2C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68D51-1", "PR:Q68D51-1", "ENSEMBL:ENSP00000376955", "ENSEMBL:ENSP00000376955.1"], "information_content": 100.0}
{"id": "MONDO:0013186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 6", "equivalent_identifiers": ["MONDO:0013186", "DOID:0060584", "OMIM:613224", "UMLS:C2750732", "MESH:C548084", "NCIT:C176934", "medgen:413028"], "information_content": 100.0}
{"id": "NCBIGene:8405", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPOP", "equivalent_identifiers": ["NCBIGene:8405", "ENSEMBL:ENSG00000121067", "HGNC:11254", "OMIM:602650", "UMLS:C1420368", "UniProtKB:O43791", "PR:O43791", "ENSEMBL:ENSP00000240327", "ENSEMBL:ENSP00000240327.2", "ENSEMBL:ENSP00000377001", "ENSEMBL:ENSP00000377001.2", "ENSEMBL:ENSP00000420908", "ENSEMBL:ENSP00000420908.1", "ENSEMBL:ENSP00000424119", "ENSEMBL:ENSP00000424119.2", "ENSEMBL:ENSP00000425905", "ENSEMBL:ENSP00000425905.1", "ENSEMBL:ENSP00000426986", "ENSEMBL:ENSP00000426986.2", "ENSEMBL:ENSP00000499562", "ENSEMBL:ENSP00000499562.1", "UMLS:C0669183", "MESH:C509761"], "information_content": 89.4}
{"id": "NCBIGene:7103", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPAN8", "equivalent_identifiers": ["NCBIGene:7103", "ENSEMBL:ENSG00000127324", "HGNC:11855", "OMIM:600769", "UMLS:C1540088", "UniProtKB:P19075", "PR:P19075", "ENSEMBL:ENSP00000247829", "ENSEMBL:ENSP00000247829.3", "ENSEMBL:ENSP00000377003", "ENSEMBL:ENSP00000377003.2", "ENSEMBL:ENSP00000447160", "ENSEMBL:ENSP00000447160.1", "UMLS:C1611559", "MESH:C065609"], "information_content": 100.0}
{"id": "UniProtKB:Q96H22-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centromere protein N isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96H22-3", "PR:Q96H22-3", "ENSEMBL:ENSP00000377007", "ENSEMBL:ENSP00000377007.3", "ENSEMBL:ENSP00000517652", "ENSEMBL:ENSP00000517652.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13492-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol-binding clathrin assembly protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13492-1", "PR:Q13492-1", "ENSEMBL:ENSP00000377015", "ENSEMBL:ENSP00000377015.3"], "information_content": 100.0}
{"id": "NCBIGene:9392", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGFBRAP1", "equivalent_identifiers": ["NCBIGene:9392", "ENSEMBL:ENSG00000135966", "HGNC:16836", "OMIM:606237", "UMLS:C1424583", "UniProtKB:Q8WUH2", "PR:Q8WUH2", "ENSEMBL:ENSP00000377027", "ENSEMBL:ENSP00000377027.2", "ENSEMBL:ENSP00000471434", "ENSEMBL:ENSP00000471434.2", "UMLS:C0674123", "MESH:C111893"], "information_content": 88.2}
{"id": "NCBIGene:516", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP5MC1", "equivalent_identifiers": ["NCBIGene:516", "ENSEMBL:ENSG00000159199", "HGNC:841", "OMIM:603192", "UMLS:C1412662", "UniProtKB:P05496", "PR:P05496", "ENSEMBL:ENSP00000348205", "ENSEMBL:ENSP00000348205.5", "ENSEMBL:ENSP00000377033", "ENSEMBL:ENSP00000377033.2", "UMLS:C5690633", "MESH:C000722858", "UniProtKB:Q6FIH7"], "information_content": 89.4}
{"id": "UniProtKB:Q15257-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A activator isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15257-2", "PR:Q15257-2", "ENSEMBL:ENSP00000377036", "ENSEMBL:ENSP00000377036.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N841-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin polyglutamylase TTLL6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N841-1", "PR:Q8N841-1", "ENSEMBL:ENSP00000377043", "ENSEMBL:ENSP00000377043.3"], "information_content": 100.0}
{"id": "UniProtKB:P23471-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase zeta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P23471-1", "PR:P23471-1", "ENSEMBL:ENSP00000377047", "ENSEMBL:ENSP00000377047.2"], "information_content": 100.0}
{"id": "UniProtKB:P42785-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal Pro-X carboxypeptidase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P42785-2", "PR:P42785-2", "ENSEMBL:ENSP00000377055", "ENSEMBL:ENSP00000377055.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5W9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5W9-1", "PR:Q9Y5W9-1", "ENSEMBL:ENSP00000352175", "ENSEMBL:ENSP00000352175.2", "ENSEMBL:ENSP00000377059", "ENSEMBL:ENSP00000377059.2"], "information_content": 100.0}
{"id": "NCBIGene:10951", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CBX1", "equivalent_identifiers": ["NCBIGene:10951", "ENSEMBL:ENSG00000108468", "HGNC:1551", "OMIM:604511", "UMLS:C1413156", "UniProtKB:P83916", "PR:P83916", "ENSEMBL:ENSP00000225603", "ENSEMBL:ENSP00000225603.4", "ENSEMBL:ENSP00000377060", "ENSEMBL:ENSP00000377060.3", "UMLS:C5565120", "MESH:C000715593", "UniProtKB:Q6IBN6"], "information_content": 95.4}
{"id": "NCBIGene:5361", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLXNA1", "equivalent_identifiers": ["NCBIGene:5361", "ENSEMBL:ENSG00000114554", "HGNC:9099", "OMIM:601055", "UMLS:C1418660", "UniProtKB:Q9UIW2", "PR:Q9UIW2", "ENSEMBL:ENSP00000377061", "ENSEMBL:ENSP00000377061.2", "UMLS:C1455059", "MESH:C492116"], "information_content": 83.6}
{"id": "UniProtKB:Q3MIN7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ral guanine nucleotide dissociation stimulator-like 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q3MIN7-2", "PR:Q3MIN7-2", "ENSEMBL:ENSP00000377075", "ENSEMBL:ENSP00000377075.3"], "information_content": 100.0}
{"id": "UniProtKB:Q1L5Z9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LON peptidase N-terminal domain and RING finger protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q1L5Z9-1", "PR:Q1L5Z9-1", "ENSEMBL:ENSP00000377086", "ENSEMBL:ENSP00000377086.3"], "information_content": 100.0}
{"id": "MONDO:0003751", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood germ cell tumor", "equivalent_identifiers": ["MONDO:0003751", "DOID:6053", "UMLS:C0279014", "NCIT:C7928", "medgen:75907"], "information_content": 70.8}
{"id": "UniProtKB:A0AV02-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 12 member 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A0AV02-1", "PR:A0AV02-1", "ENSEMBL:ENSP00000377112", "ENSEMBL:ENSP00000377112.4", "ENSEMBL:ENSP00000418783", "ENSEMBL:ENSP00000418783.1"], "information_content": 100.0}
{"id": "NCBIGene:51601", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIPT1", "equivalent_identifiers": ["NCBIGene:51601", "ENSEMBL:ENSG00000144182", "HGNC:29569", "OMIM:610284", "UMLS:C1428876", "UniProtKB:Q9Y234", "PR:Q9Y234", "ENSEMBL:ENSP00000377114", "ENSEMBL:ENSP00000377114.2", "ENSEMBL:ENSP00000377115", "ENSEMBL:ENSP00000377115.2", "ENSEMBL:ENSP00000498546", "ENSEMBL:ENSP00000498546.1"], "information_content": 90.9}
{"id": "UniProtKB:Q9BZW7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis-specific gene 10 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZW7-1", "PR:Q9BZW7-1", "ENSEMBL:ENSP00000347161", "ENSEMBL:ENSP00000347161.4", "ENSEMBL:ENSP00000377123", "ENSEMBL:ENSP00000377123.3", "ENSEMBL:ENSP00000386956", "ENSEMBL:ENSP00000386956.1"], "information_content": 100.0}
{"id": "UniProtKB:O43747-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-1 complex subunit gamma-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O43747-2", "PR:O43747-2", "ENSEMBL:ENSP00000377148", "ENSEMBL:ENSP00000377148.3"], "information_content": 100.0}
{"id": "NCBIGene:51239", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD39", "equivalent_identifiers": ["NCBIGene:51239", "ENSEMBL:ENSG00000213337", "HGNC:28640", "UMLS:C1823675", "UniProtKB:Q53RE8", "PR:Q53RE8", "ENSEMBL:ENSP00000377170", "ENSEMBL:ENSP00000377170.4", "ENSEMBL:ENSP00000398321", "ENSEMBL:ENSP00000398321.1"], "information_content": 92.8}
{"id": "UniProtKB:Q9P0W8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis-associated protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0W8-1", "PR:Q9P0W8-1", "ENSEMBL:ENSP00000377176", "ENSEMBL:ENSP00000377176.4"], "information_content": 100.0}
{"id": "UniProtKB:P11413-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glucose-6-phosphate 1-dehydrogenase isoform Short (human)", "equivalent_identifiers": ["UniProtKB:P11413-1", "PR:P11413-1", "ENSEMBL:ENSP00000377192", "ENSEMBL:ENSP00000377192.3", "ENSEMBL:ENSP00000377194", "ENSEMBL:ENSP00000377194.2", "ENSEMBL:ENSP00000512624", "ENSEMBL:ENSP00000512624.1", "ENSEMBL:ENSP00000512625", "ENSEMBL:ENSP00000512625.1"], "information_content": 100.0}
{"id": "MONDO:0012334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 29", "equivalent_identifiers": ["MONDO:0012334", "DOID:0110780", "OMIM:609727", "orphanet:101009", "UMLS:C1857855", "MESH:C536863", "SNOMEDCT:733029008", "medgen:346682"], "information_content": 100.0}
{"id": "UniProtKB:Q16643-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "drebrin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q16643-3", "PR:Q16643-3", "ENSEMBL:ENSP00000377195", "ENSEMBL:ENSP00000377195.1"], "information_content": 100.0}
{"id": "UniProtKB:Q4G0P3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hydrocephalus-inducing protein homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4G0P3-1", "PR:Q4G0P3-1", "ENSEMBL:ENSP00000377197", "ENSEMBL:ENSP00000377197.2"], "information_content": 100.0}
{"id": "UniProtKB:P14316-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon regulatory factor 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P14316-1", "PR:P14316-1", "ENSEMBL:ENSP00000377218", "ENSEMBL:ENSP00000377218.3", "ENSEMBL:ENSP00000424552", "ENSEMBL:ENSP00000424552.2", "ENSEMBL:ENSP00000512878", "ENSEMBL:ENSP00000512878.1", "ENSEMBL:ENSP00000512918", "ENSEMBL:ENSP00000512918.1", "ENSEMBL:ENSP00000512920", "ENSEMBL:ENSP00000512920.1", "ENSEMBL:ENSP00000512922", "ENSEMBL:ENSP00000512922.1", "ENSEMBL:ENSP00000512923", "ENSEMBL:ENSP00000512923.1", "ENSEMBL:ENSP00000512925", "ENSEMBL:ENSP00000512925.1", "ENSEMBL:ENSP00000512927", "ENSEMBL:ENSP00000512927.1", "ENSEMBL:ENSP00000512954", "ENSEMBL:ENSP00000512954.1"], "information_content": 95.4}
{"id": "NCBIGene:1032", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDKN2D", "equivalent_identifiers": ["NCBIGene:1032", "ENSEMBL:ENSG00000129355", "HGNC:1790", "OMIM:600927", "UMLS:C1413292", "UniProtKB:P55273", "PR:P55273", "ENSEMBL:ENSP00000337056", "ENSEMBL:ENSP00000337056.1", "ENSEMBL:ENSP00000377224", "ENSEMBL:ENSP00000377224.1", "UMLS:C0386669", "MESH:C493974"], "information_content": 80.6}
{"id": "NCBIGene:9130", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM50A", "equivalent_identifiers": ["NCBIGene:9130", "ENSEMBL:ENSG00000071859", "HGNC:18786", "OMIM:300453", "UMLS:C1539454", "UniProtKB:Q14320", "PR:Q14320", "ENSEMBL:ENSP00000377225", "ENSEMBL:ENSP00000377225.3", "UMLS:C1308291", "MESH:C108827"], "information_content": 92.8}
{"id": "MONDO:0013307", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, lactic acidosis, and sideroblastic anemia 2", "equivalent_identifiers": ["MONDO:0013307", "DOID:0111186", "OMIM:613561", "UMLS:C3150802", "medgen:462152"], "information_content": 100.0}
{"id": "UniProtKB:Q96P48-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q96P48-6", "PR:Q96P48-6", "ENSEMBL:ENSP00000377233", "ENSEMBL:ENSP00000377233.3"], "information_content": 100.0}
{"id": "NCBIGene:9817", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KEAP1", "equivalent_identifiers": ["NCBIGene:9817", "ENSEMBL:ENSG00000079999", "HGNC:23177", "OMIM:606016", "UMLS:C1427969", "UniProtKB:Q14145", "PR:Q14145", "ENSEMBL:ENSP00000171111", "ENSEMBL:ENSP00000171111.4", "ENSEMBL:ENSP00000377245", "ENSEMBL:ENSP00000377245.1", "UMLS:C0967993", "MESH:C431364"], "information_content": 84.2}
{"id": "UniProtKB:Q7Z3U7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein MON2 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3U7-1", "PR:Q7Z3U7-1", "ENSEMBL:ENSP00000377250", "ENSEMBL:ENSP00000377250.4"], "information_content": 100.0}
{"id": "NCBIGene:6483", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ST3GAL2", "equivalent_identifiers": ["NCBIGene:6483", "ENSEMBL:ENSG00000157350", "HGNC:10863", "OMIM:607188", "UMLS:C1539860", "UniProtKB:B3KXG9", "UniProtKB:Q16842", "PR:Q16842", "ENSEMBL:ENSP00000345477", "ENSEMBL:ENSP00000345477.2", "ENSEMBL:ENSP00000377257", "ENSEMBL:ENSP00000377257.4", "UMLS:C5553014"], "information_content": 89.4}
{"id": "UniProtKB:P78362-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SRSF protein kinase 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P78362-2", "PR:P78362-2", "ENSEMBL:ENSP00000377262", "ENSEMBL:ENSP00000377262.3"], "information_content": 100.0}
{"id": "UniProtKB:Q92481-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor AP-2-beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92481-1", "PR:Q92481-1", "ENSEMBL:ENSP00000377265", "ENSEMBL:ENSP00000377265.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14789-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "golgin subfamily B member 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q14789-2", "PR:Q14789-2", "ENSEMBL:ENSP00000377275", "ENSEMBL:ENSP00000377275.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRD0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRD0-1", "PR:Q9NRD0-1", "ENSEMBL:ENSP00000377280", "ENSEMBL:ENSP00000377280.2"], "information_content": 100.0}
{"id": "NCBIGene:2348", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOLR1", "equivalent_identifiers": ["NCBIGene:2348", "ENSEMBL:ENSG00000110195", "HGNC:3791", "OMIM:136430", "UMLS:C1414662", "UniProtKB:P15328", "PR:P15328", "ENSEMBL:ENSP00000308137", "ENSEMBL:ENSP00000308137.4", "ENSEMBL:ENSP00000377281", "ENSEMBL:ENSP00000377281.3", "ENSEMBL:ENSP00000377284", "ENSEMBL:ENSP00000377284.1", "ENSEMBL:ENSP00000377286", "ENSEMBL:ENSP00000377286.2", "ENSEMBL:ENSP00000502440", "ENSEMBL:ENSP00000502440.1", "UMLS:C1384573", "MESH:C548696"], "information_content": 90.9}
{"id": "NCBIGene:6620", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNCB", "equivalent_identifiers": ["NCBIGene:6620", "ENSEMBL:ENSG00000074317", "HGNC:11140", "OMIM:602569", "UMLS:C1420278", "UniProtKB:G4Y815", "UniProtKB:G4Y816", "ENSEMBL:ENSP00000479489", "ENSEMBL:ENSP00000479489.1", "UniProtKB:Q16143", "PR:Q16143", "ENSEMBL:ENSP00000308057", "ENSEMBL:ENSP00000308057.3", "ENSEMBL:ENSP00000377296", "ENSEMBL:ENSP00000377296.2", "ENSEMBL:ENSP00000422223", "ENSEMBL:ENSP00000422223.1", "ENSEMBL:ENSP00000424073", "ENSEMBL:ENSP00000424073.1", "UMLS:C1451725", "MESH:C497607"], "information_content": 100.0}
{"id": "DOID:0040009", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lidocaine allergy", "equivalent_identifiers": ["DOID:0040009", "UMLS:C0570646", "SNOMEDCT:293722000"]}
{"id": "UniProtKB:Q14980-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear mitotic apparatus protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14980-1", "PR:Q14980-1", "ENSEMBL:ENSP00000377298", "ENSEMBL:ENSP00000377298.4"], "information_content": 100.0}
{"id": "MONDO:0004828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lower urinary tract calculus", "equivalent_identifiers": ["MONDO:0004828", "DOID:9590", "UMLS:C0156264", "MEDDRA:10007015", "MEDDRA:10007016", "SNOMEDCT:79509009", "medgen:510219", "ICD10:N21", "ICD9:594"], "information_content": 89.4}
{"id": "UniProtKB:P51606-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acylglucosamine 2-epimerase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51606-1", "PR:P51606-1", "ENSEMBL:ENSP00000377303", "ENSEMBL:ENSP00000377303.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6P4F2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ferredoxin-2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P4F2-1", "PR:Q6P4F2-1", "ENSEMBL:ENSP00000377311", "ENSEMBL:ENSP00000377311.5"], "information_content": 100.0}
{"id": "NCBIGene:55601", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX60", "equivalent_identifiers": ["NCBIGene:55601", "ENSEMBL:ENSG00000137628", "HGNC:25942", "OMIM:613974", "UMLS:C2239342", "UniProtKB:A0A3G9HN97", "UMLS:C3251919", "MESH:C561888", "UniProtKB:A0A7P0T8Y0", "ENSEMBL:ENSP00000505292", "ENSEMBL:ENSP00000505292.1", "UniProtKB:Q6B0F7", "UniProtKB:Q8IY21", "PR:Q8IY21", "ENSEMBL:ENSP00000377344", "ENSEMBL:ENSP00000377344.3", "UniProtKB:Q9H616", "UniProtKB:Q9NXV7"], "information_content": 85.5}
{"id": "NCBIGene:1812", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRD1", "equivalent_identifiers": ["NCBIGene:1812", "ENSEMBL:ENSG00000184845", "HGNC:3020", "OMIM:126449", "UMLS:C1333250", "UniProtKB:P21728", "PR:P21728", "ENSEMBL:ENSP00000377353", "ENSEMBL:ENSP00000377353.1", "UMLS:C3711530", "MESH:C583260"], "information_content": 95.4}
{"id": "NCBIGene:57595", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDZD4", "equivalent_identifiers": ["NCBIGene:57595", "ENSEMBL:ENSG00000067840", "HGNC:21167", "OMIM:300634", "UMLS:C1538616", "UniProtKB:B3KW03", "UniProtKB:Q17RL8", "ENSEMBL:ENSP00000377355", "ENSEMBL:ENSP00000377355.3", "UniProtKB:Q76G19", "PR:Q76G19"]}
{"id": "UniProtKB:Q0VAA2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 74A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q0VAA2-1", "PR:Q0VAA2-1", "ENSEMBL:ENSP00000377369", "ENSEMBL:ENSP00000377369.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5DX21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "immunoglobulin superfamily member 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5DX21-1", "PR:Q5DX21-1", "ENSEMBL:ENSP00000377370", "ENSEMBL:ENSP00000377370.2"], "information_content": 100.0}
{"id": "UniProtKB:P17677-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuromodulin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P17677-2", "PR:P17677-2", "ENSEMBL:ENSP00000377372", "ENSEMBL:ENSP00000377372.3"], "information_content": 100.0}
{"id": "UniProtKB:Q969X5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969X5-1", "PR:Q969X5-1", "ENSEMBL:ENSP00000377374", "ENSEMBL:ENSP00000377374.3"], "information_content": 100.0}
{"id": "NCBIGene:92181", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBTD2", "equivalent_identifiers": ["NCBIGene:92181", "ENSEMBL:ENSG00000168246", "HGNC:24463", "OMIM:610174", "UMLS:C1823583", "UniProtKB:B3KMW8", "UniProtKB:Q8WUN7", "PR:Q8WUN7", "ENSEMBL:ENSP00000377381", "ENSEMBL:ENSP00000377381.2"], "information_content": 95.4}
{"id": "UniProtKB:Q9P2W1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homologous-pairing protein 2 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2W1-1", "PR:Q9P2W1-1", "ENSEMBL:ENSP00000377384", "ENSEMBL:ENSP00000377384.2"], "information_content": 100.0}
{"id": "NCBIGene:692312", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPAN-P2RY11", "equivalent_identifiers": ["NCBIGene:692312", "ENSEMBL:ENSG00000243207", "HGNC:33526", "UMLS:C2828543", "UniProtKB:A0A0A6YYI3", "ENSEMBL:ENSP00000411918", "UniProtKB:A0A0B4J1V8", "ENSEMBL:ENSP00000377385", "ENSEMBL:ENSP00000377385.4"]}
{"id": "UniProtKB:Q5H9R7-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q5H9R7-5", "PR:Q5H9R7-5", "ENSEMBL:ENSP00000377390", "ENSEMBL:ENSP00000377390.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWH4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi-associated kinase 1B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWH4-2", "PR:Q6UWH4-2", "ENSEMBL:ENSP00000377396", "ENSEMBL:ENSP00000377396.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TB61-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TB61-1", "PR:Q8TB61-1", "ENSEMBL:ENSP00000377401", "ENSEMBL:ENSP00000377401.3"], "information_content": 100.0}
{"id": "NCBIGene:56901", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COXFA4L2", "equivalent_identifiers": ["NCBIGene:56901", "ENSEMBL:ENSG00000185633", "HGNC:29836", "UMLS:C1826389", "UniProtKB:Q9NRX3", "PR:Q9NRX3", "ENSEMBL:ENSP00000377411", "ENSEMBL:ENSP00000377411.1", "ENSEMBL:ENSP00000450664", "ENSEMBL:ENSP00000450664.1", "UMLS:C4548874", "MESH:C000625979"], "information_content": 95.4}
{"id": "UniProtKB:Q9NXL6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SID1 transmembrane family member 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXL6-2", "PR:Q9NXL6-2", "ENSEMBL:ENSP00000377416", "ENSEMBL:ENSP00000377416.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96MT7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 44 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96MT7-2", "PR:Q96MT7-2", "ENSEMBL:ENSP00000377428", "ENSEMBL:ENSP00000377428.2"], "information_content": 100.0}
{"id": "NCBIGene:8802", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUCLG1", "equivalent_identifiers": ["NCBIGene:8802", "ENSEMBL:ENSG00000163541", "HGNC:11449", "OMIM:611224", "UMLS:C1420511", "UniProtKB:P53597", "PR:P53597", "ENSEMBL:ENSP00000377446", "ENSEMBL:ENSP00000377446.2"], "information_content": 88.2}
{"id": "NCBIGene:4111", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEA12", "equivalent_identifiers": ["NCBIGene:4111", "ENSEMBL:ENSG00000213401", "HGNC:6799", "OMIM:300177", "UMLS:C1416973", "UniProtKB:P43365", "PR:P43365", "ENSEMBL:ENSP00000350592", "ENSEMBL:ENSP00000350592.4", "ENSEMBL:ENSP00000377447", "ENSEMBL:ENSP00000377447.3", "ENSEMBL:ENSP00000377478", "ENSEMBL:ENSP00000377478.3", "ENSEMBL:ENSP00000517976", "ENSEMBL:ENSP00000517976.1", "ENSEMBL:ENSP00000517977", "ENSEMBL:ENSP00000517977.1", "ENSEMBL:ENSP00000517978", "ENSEMBL:ENSP00000517978.1", "UMLS:C1449389", "MESH:C409589"], "information_content": 100.0}
{"id": "MONDO:0002367", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "kidney cancer", "equivalent_identifiers": ["MONDO:0002367", "DOID:263", "UMLS:C0494158", "UMLS:C0740457", "MESH:D007680", "MEDDRA:10023400", "MEDDRA:10026008", "MEDDRA:10038389", "MEDDRA:10056796", "MEDDRA:10068208", "MEDDRA:10083554", "NCIT:C120456", "NCIT:C7548", "SNOMEDCT:363518003", "medgen:149263", "ICD10:C64", "ICD9:189.0"], "information_content": 62.5}
{"id": "NCBIGene:5068", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "REG3A", "equivalent_identifiers": ["NCBIGene:5068", "ENSEMBL:ENSG00000172016", "HGNC:8601", "OMIM:167805", "UMLS:C1538823", "UniProtKB:Q06141", "PR:Q06141", "ENSEMBL:ENSP00000304311", "ENSEMBL:ENSP00000304311.2", "ENSEMBL:ENSP00000377456", "ENSEMBL:ENSP00000377456.1", "ENSEMBL:ENSP00000386630", "ENSEMBL:ENSP00000386630.3", "UMLS:C2714958", "UMLS:C4546513", "MESH:C000612141", "MESH:C539690", "UniProtKB:Q53S56"], "information_content": 89.4}
{"id": "UniProtKB:P09543-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2',3'-cyclic-nucleotide 3'-phosphodiesterase isoform CNPII (human)", "equivalent_identifiers": ["UniProtKB:P09543-1", "PR:P09543-1", "ENSEMBL:ENSP00000377470", "ENSEMBL:ENSP00000377470.2"], "information_content": 100.0}
{"id": "NCBIGene:9801", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL19", "equivalent_identifiers": ["NCBIGene:9801", "ENSEMBL:ENSG00000115364", "HGNC:14052", "OMIM:611832", "UMLS:C1422376", "UniProtKB:P49406", "PR:P49406", "ENSEMBL:ENSP00000377486", "ENSEMBL:ENSP00000377486.2", "ENSEMBL:ENSP00000387284", "ENSEMBL:ENSP00000387284.1", "UMLS:C1565884", "MESH:C496590"], "information_content": 95.4}
{"id": "NCBIGene:84141", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EVA1A", "equivalent_identifiers": ["NCBIGene:84141", "ENSEMBL:ENSG00000115363", "HGNC:25816", "OMIM:618990", "UMLS:C1823431", "UniProtKB:Q9H8M9", "PR:Q9H8M9", "ENSEMBL:ENSP00000233712", "ENSEMBL:ENSP00000233712.1", "ENSEMBL:ENSP00000377490", "ENSEMBL:ENSP00000377490.3", "ENSEMBL:ENSP00000386435", "ENSEMBL:ENSP00000386435.1", "ENSEMBL:ENSP00000386930", "ENSEMBL:ENSP00000386930.1", "UMLS:C2003217", "MESH:C524094"], "information_content": 95.4}
{"id": "UniProtKB:O75330-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hyaluronan mediated motility receptor isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O75330-3", "PR:O75330-3", "ENSEMBL:ENSP00000377492", "ENSEMBL:ENSP00000377492.4"], "information_content": 100.0}
{"id": "NCBIGene:29114", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAGLN3", "equivalent_identifiers": ["NCBIGene:29114", "ENSEMBL:ENSG00000144834", "HGNC:29868", "OMIM:607953", "UMLS:C1539921", "UniProtKB:Q9UI15", "PR:Q9UI15", "ENSEMBL:ENSP00000273368", "ENSEMBL:ENSP00000273368.4", "ENSEMBL:ENSP00000377494", "ENSEMBL:ENSP00000377494.2", "ENSEMBL:ENSP00000391160", "ENSEMBL:ENSP00000391160.2", "ENSEMBL:ENSP00000419105", "ENSEMBL:ENSP00000419105.1", "UMLS:C0965116", "MESH:C422902"], "information_content": 88.2}
{"id": "NCBIGene:3728", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JUP", "equivalent_identifiers": ["NCBIGene:3728", "ENSEMBL:ENSG00000173801", "HGNC:6207", "OMIM:173325", "UMLS:C1334295", "UniProtKB:A0A0S2Z487", "UniProtKB:P14923", "PR:P14923", "ENSEMBL:ENSP00000311113", "ENSEMBL:ENSP00000311113.5", "ENSEMBL:ENSP00000377507", "ENSEMBL:ENSP00000377507.1", "ENSEMBL:ENSP00000377508", "ENSEMBL:ENSP00000377508.3", "UMLS:C1531215", "MESH:C495292"], "information_content": 85.5}
{"id": "NCBIGene:91683", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYT12", "equivalent_identifiers": ["NCBIGene:91683", "ENSEMBL:ENSG00000173227", "HGNC:18381", "OMIM:606436", "UMLS:C1425486", "UniProtKB:B0AZL9", "UniProtKB:Q8IV01", "PR:Q8IV01", "ENSEMBL:ENSP00000377520", "ENSEMBL:ENSP00000377520.2", "ENSEMBL:ENSP00000431400", "ENSEMBL:ENSP00000431400.1", "ENSEMBL:ENSP00000435316", "ENSEMBL:ENSP00000435316.1"], "information_content": 95.4}
{"id": "UniProtKB:O75425-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "motile sperm domain-containing protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75425-1", "PR:O75425-1", "ENSEMBL:ENSP00000223054", "ENSEMBL:ENSP00000223054.4", "ENSEMBL:ENSP00000368842", "ENSEMBL:ENSP00000368842.2", "ENSEMBL:ENSP00000377522", "ENSEMBL:ENSP00000377522.2"], "information_content": 100.0}
{"id": "NCBIGene:9232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTTG1", "equivalent_identifiers": ["NCBIGene:9232", "ENSEMBL:ENSG00000164611", "HGNC:9690", "OMIM:604147", "UMLS:C0919521", "UniProtKB:O95997", "PR:O95997", "ENSEMBL:ENSP00000344936", "ENSEMBL:ENSP00000344936.5", "ENSEMBL:ENSP00000377536", "ENSEMBL:ENSP00000377536.1", "ENSEMBL:ENSP00000430642", "ENSEMBL:ENSP00000430642.1", "UMLS:C1309143", "MESH:C578002", "UniProtKB:Q6IAL9"], "information_content": 95.4}
{"id": "NCBIGene:114898", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1QTNF2", "equivalent_identifiers": ["NCBIGene:114898", "ENSEMBL:ENSG00000145861", "HGNC:14325", "OMIM:618647", "UMLS:C1422564", "UniProtKB:A0A499FIM1", "ENSEMBL:ENSP00000377545", "ENSEMBL:ENSP00000377545.3", "UniProtKB:Q9BXJ5", "PR:Q9BXJ5", "ENSEMBL:ENSP00000498651", "ENSEMBL:ENSP00000498651.1"]}
{"id": "UniProtKB:P19012-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin, type I cytoskeletal 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P19012-1", "PR:P19012-1", "ENSEMBL:ENSP00000254043", "ENSEMBL:ENSP00000254043.3", "ENSEMBL:ENSP00000377546", "ENSEMBL:ENSP00000377546.1"], "information_content": 100.0}
{"id": "UniProtKB:P51161-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gastrotropin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51161-2", "PR:P51161-2", "ENSEMBL:ENSP00000377549", "ENSEMBL:ENSP00000377549.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYP9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin-associated protein 9-9 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYP9-3", "PR:Q9BYP9-3", "ENSEMBL:ENSP00000377576", "ENSEMBL:ENSP00000377576.1", "ENSEMBL:ENSP00000460586", "ENSEMBL:ENSP00000460586.1"], "information_content": 100.0}
{"id": "MONDO:0014487", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome", "equivalent_identifiers": ["MONDO:0014487", "DOID:0080209", "OMIM:616084", "orphanet:369861", "UMLS:C4015172", "medgen:863609"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYR9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KRA24_HUMAN Keratin-associated protein 2-4 (sprot)", "equivalent_identifiers": ["UniProtKB:Q9BYR9", "PR:Q9BYR9", "ENSEMBL:ENSP00000377583", "ENSEMBL:ENSP00000377583.2", "ENSEMBL:ENSP00000458927", "ENSEMBL:ENSP00000458927.1", "ENSEMBL:ENSP00000517788", "ENSEMBL:ENSP00000517788.1"], "information_content": 100.0}
{"id": "NCBIGene:3070", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HELLS", "equivalent_identifiers": ["NCBIGene:3070", "ENSEMBL:ENSG00000119969", "HGNC:4861", "OMIM:603946", "UMLS:C1415508", "UniProtKB:A0A087WSW7", "ENSEMBL:ENSP00000360383.5", "UMLS:C0966658", "MESH:C412063", "UniProtKB:A0A0B4J1V9", "ENSEMBL:ENSP00000377601", "ENSEMBL:ENSP00000377601.2", "UniProtKB:Q0VGL2", "UniProtKB:Q76H82", "ENSEMBL:ENSP00000485823", "ENSEMBL:ENSP00000485823.1", "UniProtKB:Q9NRZ9", "PR:Q9NRZ9"]}
{"id": "UniProtKB:Q8N1A0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin-like protein KRT222 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1A0-1", "PR:Q8N1A0-1", "ENSEMBL:ENSP00000377616", "ENSEMBL:ENSP00000377616.3"], "information_content": 100.0}
{"id": "UniProtKB:P13995-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P13995-1", "PR:P13995-1", "ENSEMBL:ENSP00000377617", "ENSEMBL:ENSP00000377617.2"], "information_content": 100.0}
{"id": "UniProtKB:O95630-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "STAM-binding protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95630-1", "PR:O95630-1", "ENSEMBL:ENSP00000344742", "ENSEMBL:ENSP00000344742.3", "ENSEMBL:ENSP00000377633", "ENSEMBL:ENSP00000377633.2", "ENSEMBL:ENSP00000377636", "ENSEMBL:ENSP00000377636.1", "ENSEMBL:ENSP00000386548", "ENSEMBL:ENSP00000386548.1", "ENSEMBL:ENSP00000506833", "ENSEMBL:ENSP00000506833.1", "ENSEMBL:ENSP00000506845", "ENSEMBL:ENSP00000506845.1", "ENSEMBL:ENSP00000506865", "ENSEMBL:ENSP00000506865.1", "ENSEMBL:ENSP00000506958", "ENSEMBL:ENSP00000506958.1", "ENSEMBL:ENSP00000507014", "ENSEMBL:ENSP00000507014.1", "ENSEMBL:ENSP00000507054", "ENSEMBL:ENSP00000507054.1", "ENSEMBL:ENSP00000507081", "ENSEMBL:ENSP00000507081.1", "ENSEMBL:ENSP00000507092", "ENSEMBL:ENSP00000507092.1", "ENSEMBL:ENSP00000507639", "ENSEMBL:ENSP00000507639.1", "ENSEMBL:ENSP00000507658", "ENSEMBL:ENSP00000507658.1", "ENSEMBL:ENSP00000507864", "ENSEMBL:ENSP00000507864.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQF6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sentrin-specific protease 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQF6-1", "PR:Q9BQF6-1", "ENSEMBL:ENSP00000377655", "ENSEMBL:ENSP00000377655.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14C86-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTPase-activating protein and VPS9 domain-containing protein 1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q14C86-6", "PR:Q14C86-6", "ENSEMBL:ENSP00000377665", "ENSEMBL:ENSP00000377665.2"], "information_content": 100.0}
{"id": "NCBIGene:6821", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUOX", "equivalent_identifiers": ["NCBIGene:6821", "ENSEMBL:ENSG00000139531", "HGNC:11460", "OMIM:606887", "UMLS:C1420521", "UniProtKB:P51687", "PR:P51687", "ENSEMBL:ENSP00000266971", "ENSEMBL:ENSP00000266971.3", "ENSEMBL:ENSP00000348440", "ENSEMBL:ENSP00000348440.4", "ENSEMBL:ENSP00000377668", "ENSEMBL:ENSP00000377668.3", "ENSEMBL:ENSP00000377674", "ENSEMBL:ENSP00000377674.2", "ENSEMBL:ENSP00000450245", "ENSEMBL:ENSP00000450245.1", "ENSEMBL:ENSP00000450264", "ENSEMBL:ENSP00000450264.1", "UMLS:C1608704", "MESH:C503599"], "information_content": 92.8}
{"id": "UniProtKB:Q13283-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras GTPase-activating protein-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13283-1", "PR:Q13283-1", "ENSEMBL:ENSP00000348578", "ENSEMBL:ENSP00000348578.3", "ENSEMBL:ENSP00000377681", "ENSEMBL:ENSP00000377681.3", "ENSEMBL:ENSP00000430480", "ENSEMBL:ENSP00000430480.2", "ENSEMBL:ENSP00000502880", "ENSEMBL:ENSP00000502880.1", "ENSEMBL:ENSP00000503039", "ENSEMBL:ENSP00000503039.1", "ENSEMBL:ENSP00000503699", "ENSEMBL:ENSP00000503699.1", "ENSEMBL:ENSP00000503939", "ENSEMBL:ENSP00000503939.1", "ENSEMBL:ENSP00000504140", "ENSEMBL:ENSP00000504140.1", "ENSEMBL:ENSP00000504627", "ENSEMBL:ENSP00000504627.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5W5X9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetratricopeptide repeat protein 23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5W5X9-1", "PR:Q5W5X9-1", "ENSEMBL:ENSP00000377690", "ENSEMBL:ENSP00000377690.2", "ENSEMBL:ENSP00000377692", "ENSEMBL:ENSP00000377692.3", "ENSEMBL:ENSP00000452923", "ENSEMBL:ENSP00000452923.1"], "information_content": 100.0}
{"id": "NCBIGene:56954", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NIT2", "equivalent_identifiers": ["NCBIGene:56954", "ENSEMBL:ENSG00000114021", "HGNC:29878", "OMIM:616769", "UMLS:C1538064", "UniProtKB:Q9NQR4", "PR:Q9NQR4", "ENSEMBL:ENSP00000377696", "ENSEMBL:ENSP00000377696.3", "UMLS:C1956431", "UniProtKB:V9HW91"], "information_content": 92.8}
{"id": "UniProtKB:Q8IZF6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G-protein coupled receptor G4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZF6-1", "PR:Q8IZF6-1", "ENSEMBL:ENSP00000359686", "ENSEMBL:ENSP00000359686.1", "ENSEMBL:ENSP00000377699", "ENSEMBL:ENSP00000377699.1"], "information_content": 100.0}
{"id": "MONDO:0001167", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spastic diplegia", "equivalent_identifiers": ["MONDO:0001167", "DOID:10965", "UMLS:C0023882", "UMLS:C0154695", "UMLS:C0270804", "MESH:C537945", "MEDDRA:10013035", "MEDDRA:10021741", "MEDDRA:10033834", "MEDDRA:10041414", "MEDDRA:10067130", "MEDDRA:10088839", "NCIT:C34781", "SNOMEDCT:281411007", "SNOMEDCT:58193001", "medgen:124371", "ICD10:G80.1", "ICD9:343.0", "HP:0001264"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUY8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUY8-1", "PR:Q9NUY8-1", "ENSEMBL:ENSP00000377700", "ENSEMBL:ENSP00000377700.4"], "information_content": 100.0}
{"id": "UniProtKB:P23743-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diacylglycerol kinase alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P23743-1", "PR:P23743-1", "ENSEMBL:ENSP00000328405", "ENSEMBL:ENSP00000328405.5", "ENSEMBL:ENSP00000377703", "ENSEMBL:ENSP00000377703.1", "ENSEMBL:ENSP00000450359", "ENSEMBL:ENSP00000450359.1"], "information_content": 100.0}
{"id": "UniProtKB:P24468-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "COUP transcription factor 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P24468-1", "PR:P24468-1", "ENSEMBL:ENSP00000377721", "ENSEMBL:ENSP00000377721.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N138-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ORM1-like protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N138-1", "PR:Q8N138-1", "ENSEMBL:ENSP00000304858", "ENSEMBL:ENSP00000304858.2", "ENSEMBL:ENSP00000377724", "ENSEMBL:ENSP00000377724.1", "ENSEMBL:ENSP00000464693", "ENSEMBL:ENSP00000464693.1"], "information_content": 100.0}
{"id": "MONDO:0012886", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 22", "equivalent_identifiers": ["MONDO:0012886", "DOID:0110905", "OMIM:612380", "UMLS:C2676485", "MESH:C567327", "medgen:382862"], "information_content": 100.0}
{"id": "NCBIGene:23660", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZKSCAN5", "equivalent_identifiers": ["NCBIGene:23660", "ENSEMBL:ENSG00000196652", "HGNC:12867", "OMIM:611272", "UMLS:C1421576", "UniProtKB:B3KNK8", "UMLS:C1438697", "MESH:C403245", "UniProtKB:Q8N718", "UniProtKB:Q9Y2L8", "PR:Q9Y2L8", "ENSEMBL:ENSP00000322872", "ENSEMBL:ENSP00000322872.5", "ENSEMBL:ENSP00000377725", "ENSEMBL:ENSP00000377725.2", "ENSEMBL:ENSP00000392104", "ENSEMBL:ENSP00000392104.1"], "information_content": 100.0}
{"id": "UniProtKB:O14647-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromodomain-helicase-DNA-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14647-1", "PR:O14647-1", "ENSEMBL:ENSP00000377747", "ENSEMBL:ENSP00000377747.4"], "information_content": 100.0}
{"id": "UniProtKB:Q3SXY8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor-like protein 13B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3SXY8-1", "PR:Q3SXY8-1", "ENSEMBL:ENSP00000377769", "ENSEMBL:ENSP00000377769.3", "ENSEMBL:ENSP00000420780", "ENSEMBL:ENSP00000420780.1"], "information_content": 100.0}
{"id": "NCBIGene:6494", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIPA1", "equivalent_identifiers": ["NCBIGene:6494", "ENSEMBL:ENSG00000213445", "HGNC:10885", "OMIM:602180", "UMLS:C1420070", "UniProtKB:Q96FS4", "PR:Q96FS4", "ENSEMBL:ENSP00000377771", "ENSEMBL:ENSP00000377771.3", "ENSEMBL:ENSP00000436269", "ENSEMBL:ENSP00000436269.1", "UMLS:C1453843", "UMLS:C1704971", "MESH:C490403"], "information_content": 95.4}
{"id": "UniProtKB:Q7L1I2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptic vesicle glycoprotein 2B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L1I2-1", "PR:Q7L1I2-1", "ENSEMBL:ENSP00000332818", "ENSEMBL:ENSP00000332818.4", "ENSEMBL:ENSP00000377779", "ENSEMBL:ENSP00000377779.1", "ENSEMBL:ENSP00000450992", "ENSEMBL:ENSP00000450992.1"], "information_content": 100.0}
{"id": "NCBIGene:5627", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PROS1", "equivalent_identifiers": ["NCBIGene:5627", "ENSEMBL:ENSG00000184500", "HGNC:9456", "OMIM:176880", "UMLS:C1418948", "UniProtKB:A0A0S2Z4K3", "UMLS:C2002622", "DRUGBANK:DB13149", "UniProtKB:A0A0S2Z4L3", "ENSEMBL:ENSP00000497376", "ENSEMBL:ENSP00000497376.1", "UniProtKB:P07225", "PR:P07225", "ENSEMBL:ENSP00000330021", "ENSEMBL:ENSP00000330021.7", "ENSEMBL:ENSP00000377783", "ENSEMBL:ENSP00000377783.3", "UMLS:C5964820", "MESH:C523390"], "information_content": 84.2}
{"id": "MONDO:0008060", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Growth of nails", "equivalent_identifiers": ["MONDO:0008060", "DOID:0080079", "OMIM:161050", "orphanet:79153", "UMLS:C0406443", "UMLS:C0423801", "MESH:C562907", "SNOMEDCT:238719003", "SNOMEDCT:247481005", "medgen:96056"], "information_content": 100.0}
{"id": "UniProtKB:Q8N3V7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptopodin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3V7-1", "PR:Q8N3V7-1", "ENSEMBL:ENSP00000377789", "ENSEMBL:ENSP00000377789.1", "ENSEMBL:ENSP00000428378", "ENSEMBL:ENSP00000428378.1"], "information_content": 100.0}
{"id": "UniProtKB:O43663-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein regulator of cytokinesis 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43663-1", "PR:O43663-1", "ENSEMBL:ENSP00000377793", "ENSEMBL:ENSP00000377793.3"], "information_content": 100.0}
{"id": "NCBIGene:196410", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMT1B", "equivalent_identifiers": ["NCBIGene:196410", "ENSEMBL:ENSG00000170439", "HGNC:28276", "UMLS:C1825977", "UniProtKB:Q6UX53", "PR:Q6UX53", "ENSEMBL:ENSP00000377796", "ENSEMBL:ENSP00000377796.3"], "information_content": 100.0}
{"id": "UniProtKB:Q70CQ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 49 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q70CQ1-1", "PR:Q70CQ1-1", "ENSEMBL:ENSP00000377797", "ENSEMBL:ENSP00000377797.2", "ENSEMBL:ENSP00000507239", "ENSEMBL:ENSP00000507239.1"], "information_content": 100.0}
{"id": "NCBIGene:91433", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RCCD1", "equivalent_identifiers": ["NCBIGene:91433", "ENSEMBL:ENSG00000166965", "HGNC:30457", "OMIM:617997", "UMLS:C1826788", "UniProtKB:A6NED2", "PR:A6NED2", "ENSEMBL:ENSP00000377801", "ENSEMBL:ENSP00000377801.2", "ENSEMBL:ENSP00000451963", "ENSEMBL:ENSP00000451963.1", "UMLS:C4041597", "MESH:C000600473"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4P3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4P3-1", "PR:Q8N4P3-1", "ENSEMBL:ENSP00000377814", "ENSEMBL:ENSP00000377814.4", "ENSEMBL:ENSP00000493549", "ENSEMBL:ENSP00000493549.1"], "information_content": 100.0}
{"id": "MONDO:0014923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peeling skin syndrome 5", "equivalent_identifiers": ["MONDO:0014923", "DOID:0070524", "OMIM:617115", "UMLS:C4310710", "medgen:934677"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULP0-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein NDRG4 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULP0-6", "PR:Q9ULP0-6", "ENSEMBL:ENSP00000377823", "ENSEMBL:ENSP00000377823.4"], "information_content": 100.0}
{"id": "UniProtKB:P09525-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "annexin A4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P09525-3", "PR:P09525-3", "ENSEMBL:ENSP00000377833", "ENSEMBL:ENSP00000377833.4"], "information_content": 100.0}
{"id": "UniProtKB:P51654-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glypican-3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P51654-3", "PR:P51654-3", "ENSEMBL:ENSP00000377836", "ENSEMBL:ENSP00000377836.2"], "information_content": 100.0}
{"id": "UniProtKB:Q02641-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent L-type calcium channel subunit beta-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02641-1", "PR:Q02641-1", "ENSEMBL:ENSP00000377840", "ENSEMBL:ENSP00000377840.3"], "information_content": 100.0}
{"id": "UniProtKB:P08243-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "asparagine synthetase [glutamine-hydrolyzing] isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P08243-1", "PR:P08243-1", "ENSEMBL:ENSP00000175506", "ENSEMBL:ENSP00000175506.4", "ENSEMBL:ENSP00000377845", "ENSEMBL:ENSP00000377845.3", "ENSEMBL:ENSP00000377846", "ENSEMBL:ENSP00000377846.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPM6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM/homeobox protein Lhx6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPM6-3", "PR:Q9UPM6-3", "ENSEMBL:ENSP00000377854", "ENSEMBL:ENSP00000377854.4"], "information_content": 100.0}
{"id": "NCBIGene:79633", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAT4", "equivalent_identifiers": ["NCBIGene:79633", "ENSEMBL:ENSG00000196159", "HGNC:23109", "OMIM:612411", "UMLS:C1427920", "UniProtKB:A0A6Q8JR05", "ENSEMBL:ENSP00000377862", "ENSEMBL:ENSP00000377862.4", "UMLS:C2605043", "MESH:C534294", "UniProtKB:A0A7P0T1I0", "ENSEMBL:ENSP00000501473", "ENSEMBL:ENSP00000501473.2", "UniProtKB:B3KU84", "UniProtKB:Q6V0I7", "PR:Q6V0I7", "UMLS:C4284084", "UniProtKB:X2G5I7", "UniProtKB:X2GA70"]}
{"id": "UniProtKB:Q9P289-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase 26 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P289-1", "PR:Q9P289-1", "ENSEMBL:ENSP00000377867", "ENSEMBL:ENSP00000377867.2"], "information_content": 100.0}
{"id": "UniProtKB:P07098-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gastric triacylglycerol lipase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P07098-3", "PR:P07098-3", "ENSEMBL:ENSP00000377900", "ENSEMBL:ENSP00000377900.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6FI81-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anamorsin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6FI81-1", "PR:Q6FI81-1", "ENSEMBL:ENSP00000377914", "ENSEMBL:ENSP00000377914.4"], "information_content": 100.0}
{"id": "NCBIGene:374654", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIF7", "equivalent_identifiers": ["NCBIGene:374654", "ENSEMBL:ENSG00000166813", "HGNC:30497", "OMIM:611254", "UMLS:C1537482", "UniProtKB:A0A8Q3SIQ8", "ENSEMBL:ENSP00000512678", "ENSEMBL:ENSP00000512678.1", "UniProtKB:Q2M1P5", "PR:Q2M1P5", "ENSEMBL:ENSP00000377934", "ENSEMBL:ENSP00000377934.3", "UMLS:C1567274", "MESH:C502069"], "information_content": 92.8}
{"id": "UniProtKB:Q00005-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q00005-5", "PR:Q00005-5", "ENSEMBL:ENSP00000377936", "ENSEMBL:ENSP00000377936.1"], "information_content": 100.0}
{"id": "MONDO:0000681", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tactile agnosia", "equivalent_identifiers": ["MONDO:0000681", "DOID:0060151"], "information_content": 100.0}
{"id": "UniProtKB:P12814-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-actinin-1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P12814-3", "PR:P12814-3", "ENSEMBL:ENSP00000377941", "ENSEMBL:ENSP00000377941.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BVJ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U3 small nucleolar RNA-associated protein 14 homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVJ6-1", "PR:Q9BVJ6-1", "ENSEMBL:ENSP00000377944", "ENSEMBL:ENSP00000377944.3"], "information_content": 100.0}
{"id": "NCBIGene:84109", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "QRFPR", "equivalent_identifiers": ["NCBIGene:84109", "ENSEMBL:ENSG00000186867", "HGNC:15565", "OMIM:606925", "UMLS:C1423577", "UniProtKB:F2Z3L3", "ENSEMBL:ENSP00000423369", "ENSEMBL:ENSP00000423369.1", "UMLS:C1311019", "MESH:C476582", "UniProtKB:Q96P65", "PR:Q96P65", "ENSEMBL:ENSP00000377948", "ENSEMBL:ENSP00000377948.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2J5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine--tRNA ligase, cytoplasmic isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2J5-1", "PR:Q9P2J5-1", "ENSEMBL:ENSP00000377954", "ENSEMBL:ENSP00000377954.2"], "information_content": 100.0}
{"id": "UniProtKB:P50991-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-complex protein 1 subunit delta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50991-1", "PR:P50991-1", "ENSEMBL:ENSP00000377958", "ENSEMBL:ENSP00000377958.3"], "information_content": 100.0}
{"id": "NCBIGene:2962", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GTF2F1", "equivalent_identifiers": ["NCBIGene:2962", "ENSEMBL:ENSG00000125651", "HGNC:4652", "OMIM:189968", "UMLS:C1333721", "UniProtKB:P35269", "PR:P35269", "ENSEMBL:ENSP00000377969", "ENSEMBL:ENSP00000377969.3", "UMLS:C1336786"], "information_content": 95.4}
{"id": "MONDO:0010747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked dystonia-parkinsonism", "equivalent_identifiers": ["MONDO:0010747", "DOID:0090057", "OMIM:314250", "orphanet:53351", "UMLS:C1839130", "MESH:C564048", "NCIT:C126330", "SNOMEDCT:698279003", "medgen:326820"], "information_content": 100.0}
{"id": "NCBIGene:126549", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKLE1", "equivalent_identifiers": ["NCBIGene:126549", "ENSEMBL:ENSG00000160117", "HGNC:26812", "OMIM:619348", "UMLS:C1823677", "UniProtKB:A0A494C092", "ENSEMBL:ENSP00000498416", "ENSEMBL:ENSP00000498416.1", "UniProtKB:A0A499FJM0", "ENSEMBL:ENSP00000377971", "ENSEMBL:ENSP00000377971.4", "UMLS:C3657734", "MESH:C579363", "UniProtKB:B4DSY8", "UniProtKB:B4E124", "UniProtKB:Q8NAG6", "PR:Q8NAG6"]}
{"id": "NCBIGene:4501", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MT1X", "equivalent_identifiers": ["NCBIGene:4501", "ENSEMBL:ENSG00000187193", "HGNC:7405", "OMIM:156359", "UMLS:C1417401", "UniProtKB:A0A140VJP8", "UMLS:C3657351", "MESH:C581554", "UniProtKB:P80297", "PR:P80297", "ENSEMBL:ENSP00000377995", "ENSEMBL:ENSP00000377995.4"], "information_content": 95.4}
{"id": "UniProtKB:O00522-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Krev interaction trapped protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00522-1", "PR:O00522-1", "ENSEMBL:ENSP00000344668", "ENSEMBL:ENSP00000344668.2", "ENSEMBL:ENSP00000378013", "ENSEMBL:ENSP00000378013.2", "ENSEMBL:ENSP00000378015", "ENSEMBL:ENSP00000378015.1", "ENSEMBL:ENSP00000388076", "ENSEMBL:ENSP00000388076.2", "ENSEMBL:ENSP00000391675", "ENSEMBL:ENSP00000391675.2", "ENSEMBL:ENSP00000404790", "ENSEMBL:ENSP00000404790.2", "ENSEMBL:ENSP00000410909", "ENSEMBL:ENSP00000410909.2", "ENSEMBL:ENSP00000508564", "ENSEMBL:ENSP00000508564.1", "ENSEMBL:ENSP00000509139", "ENSEMBL:ENSP00000509139.1", "ENSEMBL:ENSP00000509209", "ENSEMBL:ENSP00000509209.1", "ENSEMBL:ENSP00000509514", "ENSEMBL:ENSP00000509514.1", "ENSEMBL:ENSP00000509617", "ENSEMBL:ENSP00000509617.1", "ENSEMBL:ENSP00000509832", "ENSEMBL:ENSP00000509832.1", "ENSEMBL:ENSP00000509939", "ENSEMBL:ENSP00000509939.1", "ENSEMBL:ENSP00000510015", "ENSEMBL:ENSP00000510015.1", "ENSEMBL:ENSP00000510733", "ENSEMBL:ENSP00000510733.1"], "information_content": 100.0}
{"id": "NCBIGene:572", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BAD", "equivalent_identifiers": ["NCBIGene:572", "ENSEMBL:ENSG00000002330", "HGNC:936", "OMIM:603167", "UMLS:C1366450", "UniProtKB:Q92934", "PR:Q92934", "ENSEMBL:ENSP00000309103", "ENSEMBL:ENSP00000309103.3", "ENSEMBL:ENSP00000378040", "ENSEMBL:ENSP00000378040.3", "UMLS:C1530798", "MESH:C494819"], "information_content": 88.2}
{"id": "UniProtKB:Q86TN4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA 2'-phosphotransferase 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q86TN4-4", "PR:Q86TN4-4", "ENSEMBL:ENSP00000378050", "ENSEMBL:ENSP00000378050.2"], "information_content": 100.0}
{"id": "MONDO:0013395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 4", "equivalent_identifiers": ["MONDO:0013395", "DOID:0110372", "OMIM:613731", "UMLS:C3151001", "MESH:C566706", "medgen:462351"], "information_content": 100.0}
{"id": "UniProtKB:Q13609-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deoxyribonuclease gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13609-1", "PR:Q13609-1", "ENSEMBL:ENSP00000378053", "ENSEMBL:ENSP00000378053.2"], "information_content": 100.0}
{"id": "UniProtKB:O60658-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60658-1", "PR:O60658-1", "ENSEMBL:ENSP00000311453", "ENSEMBL:ENSP00000311453.4", "ENSEMBL:ENSP00000378056", "ENSEMBL:ENSP00000378056.1"], "information_content": 100.0}
{"id": "UniProtKB:Q12805-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EGF-containing fibulin-like extracellular matrix protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q12805-1", "PR:Q12805-1", "ENSEMBL:ENSP00000347596", "ENSEMBL:ENSP00000347596.3", "ENSEMBL:ENSP00000378058", "ENSEMBL:ENSP00000378058.2"], "information_content": 100.0}
{"id": "NCBIGene:55106", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLFN12", "equivalent_identifiers": ["NCBIGene:55106", "ENSEMBL:ENSG00000172123", "HGNC:25500", "OMIM:614955", "UMLS:C1822769", "UniProtKB:Q8IYM2", "PR:Q8IYM2", "ENSEMBL:ENSP00000302077", "ENSEMBL:ENSP00000302077.5", "ENSEMBL:ENSP00000378063", "ENSEMBL:ENSP00000378063.1", "ENSEMBL:ENSP00000394903", "ENSEMBL:ENSP00000394903.2", "ENSEMBL:ENSP00000398315", "ENSEMBL:ENSP00000398315.3", "ENSEMBL:ENSP00000404175", "ENSEMBL:ENSP00000404175.2", "ENSEMBL:ENSP00000519535", "ENSEMBL:ENSP00000519535.1", "ENSEMBL:ENSP00000519536", "ENSEMBL:ENSP00000519536.1", "UMLS:C5226280", "MESH:C000656172"], "information_content": 100.0}
{"id": "NCBIGene:91607", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLFN11", "equivalent_identifiers": ["NCBIGene:91607", "ENSEMBL:ENSG00000172716", "HGNC:26633", "OMIM:614953", "UMLS:C1822768", "UniProtKB:Q7Z7L1", "PR:Q7Z7L1", "ENSEMBL:ENSP00000312402", "ENSEMBL:ENSP00000312402.4", "ENSEMBL:ENSP00000378067", "ENSEMBL:ENSP00000378067.1", "ENSEMBL:ENSP00000510787", "ENSEMBL:ENSP00000510787.1", "UMLS:C3529268", "UMLS:C3889732", "MESH:C576668"], "information_content": 95.4}
{"id": "UniProtKB:Q8N8W4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "omega-hydroxyceramide transacylase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8W4-1", "PR:Q8N8W4-1", "ENSEMBL:ENSP00000378072", "ENSEMBL:ENSP00000378072.2"], "information_content": 100.0}
{"id": "UniProtKB:O00337-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/nucleoside cotransporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00337-1", "PR:O00337-1", "ENSEMBL:ENSP00000286749", "ENSEMBL:ENSP00000286749.3", "ENSEMBL:ENSP00000378074", "ENSEMBL:ENSP00000378074.1"], "information_content": 100.0}
{"id": "UniProtKB:P08949-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuromedin-B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P08949-2", "PR:P08949-2", "ENSEMBL:ENSP00000378089", "ENSEMBL:ENSP00000378089.3", "ENSEMBL:ENSP00000517134", "ENSEMBL:ENSP00000517134.1"], "information_content": 100.0}
{"id": "MONDO:0004760", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "urethral false passage", "equivalent_identifiers": ["MONDO:0004760", "DOID:9339", "UMLS:C0156286", "MEDDRA:10046450", "SNOMEDCT:74944002", "medgen:510227", "ICD10:N36.5", "ICD9:599.4"], "information_content": 100.0}
{"id": "NCBIGene:79071", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELOVL6", "equivalent_identifiers": ["NCBIGene:79071", "ENSEMBL:ENSG00000170522", "HGNC:15829", "OMIM:611546", "UMLS:C1423759", "UniProtKB:Q9H5J4", "PR:Q9H5J4", "ENSEMBL:ENSP00000304736", "ENSEMBL:ENSP00000304736.3", "ENSEMBL:ENSP00000378105", "ENSEMBL:ENSP00000378105.3", "UMLS:C2713418", "MESH:C000630955"], "information_content": 92.8}
{"id": "NCBIGene:6355", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL8", "equivalent_identifiers": ["NCBIGene:6355", "ENSEMBL:ENSG00000108700", "HGNC:10635", "OMIM:602283", "UMLS:C1332693", "UniProtKB:P80075", "PR:P80075", "ENSEMBL:ENSP00000378118", "ENSEMBL:ENSP00000378118.1", "UMLS:C0214737", "MESH:C515453"], "information_content": 92.8}
{"id": "UniProtKB:Q8NFT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metalloreductase STEAP2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFT2-1", "PR:Q8NFT2-1", "ENSEMBL:ENSP00000287908", "ENSEMBL:ENSP00000287908.3", "ENSEMBL:ENSP00000378119", "ENSEMBL:ENSP00000378119.2", "ENSEMBL:ENSP00000378120", "ENSEMBL:ENSP00000378120.2"], "information_content": 100.0}
{"id": "NCBIGene:3426", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFI", "equivalent_identifiers": ["NCBIGene:3426", "ENSEMBL:ENSG00000205403", "HGNC:5394", "OMIM:217030", "UMLS:C1442484", "UniProtKB:A8K3L0", "UniProtKB:B4DRF2", "UniProtKB:E7ETH0", "ENSEMBL:ENSP00000378131", "ENSEMBL:ENSP00000378131.3", "UniProtKB:G3XAM2", "ENSEMBL:ENSP00000427438", "ENSEMBL:ENSP00000427438.1", "UniProtKB:P05156", "PR:P05156", "ENSEMBL:ENSP00000378130", "ENSEMBL:ENSP00000378130.2", "UMLS:C1529475", "MESH:C493611", "UniProtKB:Q8WW88"]}
{"id": "UniProtKB:P78411-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "iroquois-class homeodomain protein IRX-5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78411-1", "PR:P78411-1", "ENSEMBL:ENSP00000378132", "ENSEMBL:ENSP00000378132.4"], "information_content": 100.0}
{"id": "NCBIGene:6164", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL34", "equivalent_identifiers": ["NCBIGene:6164", "ENSEMBL:ENSG00000109475", "HGNC:10340", "OMIM:616862", "UMLS:C1419663", "UniProtKB:P49207", "PR:P49207", "ENSEMBL:ENSP00000378160", "ENSEMBL:ENSP00000378160.1", "ENSEMBL:ENSP00000378162", "ENSEMBL:ENSP00000378162.3", "ENSEMBL:ENSP00000378163", "ENSEMBL:ENSP00000378163.2", "ENSEMBL:ENSP00000423316", "ENSEMBL:ENSP00000423316.1", "ENSEMBL:ENSP00000423983", "ENSEMBL:ENSP00000423983.1"], "information_content": 92.8}
{"id": "UniProtKB:O43670-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BUB3-interacting and GLEBS motif-containing protein ZNF207 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O43670-4", "PR:O43670-4", "ENSEMBL:ENSP00000378165", "ENSEMBL:ENSP00000378165.4"], "information_content": 100.0}
{"id": "MONDO:0014192", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 22", "equivalent_identifiers": ["MONDO:0014192", "DOID:0110597", "OMIM:615444", "UMLS:C3809543", "medgen:815873"], "information_content": 100.0}
{"id": "UniProtKB:A2RUB6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 66 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2RUB6-1", "PR:A2RUB6-1", "ENSEMBL:ENSP00000378167", "ENSEMBL:ENSP00000378167.3"], "information_content": 100.0}
{"id": "NCBIGene:166929", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SGMS2", "equivalent_identifiers": ["NCBIGene:166929", "ENSEMBL:ENSG00000164023", "HGNC:28395", "OMIM:611574", "UMLS:C1969043", "UniProtKB:Q8NHU3", "PR:Q8NHU3", "ENSEMBL:ENSP00000351981", "ENSEMBL:ENSP00000351981.4", "ENSEMBL:ENSP00000378176", "ENSEMBL:ENSP00000378176.4", "ENSEMBL:ENSP00000378178", "ENSEMBL:ENSP00000378178.3", "ENSEMBL:ENSP00000508566", "ENSEMBL:ENSP00000508566.1", "UMLS:C3641910", "MESH:C000709035"], "information_content": 92.8}
{"id": "UniProtKB:Q8WUJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell migration-inducing and hyaluronan-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUJ3-1", "PR:Q8WUJ3-1", "ENSEMBL:ENSP00000220244", "ENSEMBL:ENSP00000220244.3", "ENSEMBL:ENSP00000348583", "ENSEMBL:ENSP00000348583.5", "ENSEMBL:ENSP00000378177", "ENSEMBL:ENSP00000378177.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NPI1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain-containing protein 7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPI1-2", "PR:Q9NPI1-2", "ENSEMBL:ENSP00000378181", "ENSEMBL:ENSP00000378181.2"], "information_content": 100.0}
{"id": "UniProtKB:A0A8C8KIA0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A8C8KIA0_HUMAN Aminoacyl tRNA synthetase complex interacting multifunctional protein 1 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A8C8KIA0", "ENSEMBL:ENSP00000378191", "ENSEMBL:ENSP00000378191.5"]}
{"id": "UniProtKB:Q9Y222-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-D-binding Myb-like transcription factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y222-1", "PR:Q9Y222-1", "ENSEMBL:ENSP00000332171", "ENSEMBL:ENSP00000332171.7", "ENSEMBL:ENSP00000378193", "ENSEMBL:ENSP00000378193.5"], "information_content": 100.0}
{"id": "NCBIGene:10936", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR75", "equivalent_identifiers": ["NCBIGene:10936", "ENSEMBL:ENSG00000119737", "HGNC:4526", "OMIM:606704", "UMLS:C1415257", "UniProtKB:O95800", "PR:O95800", "ENSEMBL:ENSP00000378195", "ENSEMBL:ENSP00000378195.2", "UMLS:C0769610", "MESH:C120151"], "information_content": 95.4}
{"id": "UniProtKB:Q8TEA7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC domain-containing protein kinase-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEA7-1", "PR:Q8TEA7-1", "ENSEMBL:ENSP00000273980", "ENSEMBL:ENSP00000273980.4", "ENSEMBL:ENSP00000378198", "ENSEMBL:ENSP00000378198.2"], "information_content": 100.0}
{"id": "NCBIGene:3306", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPA2", "equivalent_identifiers": ["NCBIGene:3306", "ENSEMBL:ENSG00000126803", "HGNC:5235", "OMIM:140560", "UMLS:C1415758", "UniProtKB:P54652", "PR:P54652", "ENSEMBL:ENSP00000247207", "ENSEMBL:ENSP00000247207.6", "ENSEMBL:ENSP00000378199", "ENSEMBL:ENSP00000378199.1", "UMLS:C1504740", "MESH:C091879"], "information_content": 90.9}
{"id": "NCBIGene:9495", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AKAP5", "equivalent_identifiers": ["NCBIGene:9495", "ENSEMBL:ENSG00000179841", "HGNC:375", "OMIM:604688", "UMLS:C1412317", "UniProtKB:P24588", "PR:P24588", "ENSEMBL:ENSP00000315615", "ENSEMBL:ENSP00000315615.5", "ENSEMBL:ENSP00000378207", "ENSEMBL:ENSP00000378207.3", "UMLS:C1452489", "MESH:C487775", "UniProtKB:Q6PG46"], "information_content": 92.8}
{"id": "UniProtKB:Q96J66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family C member 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96J66-1", "PR:Q96J66-1", "ENSEMBL:ENSP00000349017", "ENSEMBL:ENSP00000349017.2", "ENSEMBL:ENSP00000378230", "ENSEMBL:ENSP00000378230.1", "ENSEMBL:ENSP00000378231", "ENSEMBL:ENSP00000378231.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Scm-like with four MBT domains protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHJ3-1", "PR:Q9UHJ3-1", "ENSEMBL:ENSP00000378235", "ENSEMBL:ENSP00000378235.2"], "information_content": 100.0}
{"id": "NCBIGene:286749", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STON1-GTF2A1L", "equivalent_identifiers": ["NCBIGene:286749", "ENSEMBL:ENSG00000068781", "HGNC:30651", "UMLS:C1854378", "UniProtKB:A0A0A6YYG5", "ENSEMBL:ENSP00000378234", "UMLS:C0769160", "MESH:C119950", "UniProtKB:Q3MIM1", "UniProtKB:Q53S48", "ENSEMBL:ENSP00000378236", "ENSEMBL:ENSP00000378236.1", "ENSEMBL:ENSP00000385499", "ENSEMBL:ENSP00000385499.1"]}
{"id": "NCBIGene:80319", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXXC4", "equivalent_identifiers": ["NCBIGene:80319", "ENSEMBL:ENSG00000168772", "HGNC:24593", "OMIM:611645", "UMLS:C1428392", "UniProtKB:A0A8V8TLX0", "ENSEMBL:ENSP00000513781", "ENSEMBL:ENSP00000513781.1", "UniProtKB:J9JIF5", "ENSEMBL:ENSP00000378248", "ENSEMBL:ENSP00000378248.2", "UMLS:C1312712", "MESH:C418221"]}
{"id": "UniProtKB:Q9NP73-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-N-acetylglucosamine transferase subunit ALG13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP73-1", "PR:Q9NP73-1", "ENSEMBL:ENSP00000378260", "ENSEMBL:ENSP00000378260.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86UD5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/hydrogen exchanger 9B2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UD5-1", "PR:Q86UD5-1", "ENSEMBL:ENSP00000354574", "ENSEMBL:ENSP00000354574.3", "ENSEMBL:ENSP00000378265", "ENSEMBL:ENSP00000378265.3"], "information_content": 100.0}
{"id": "MONDO:0010278", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Christianson syndrome", "equivalent_identifiers": ["MONDO:0010278", "DOID:0060825", "OMIM:300243", "orphanet:85278", "UMLS:C1846130", "UMLS:C2678194", "MESH:C537450", "MESH:C567484", "NCIT:C181001", "SNOMEDCT:702354007", "medgen:394455"], "information_content": 100.0}
{"id": "NCBIGene:51247", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAIP2", "equivalent_identifiers": ["NCBIGene:51247", "ENSEMBL:ENSG00000120727", "HGNC:17970", "OMIM:605604", "UMLS:C1425208", "UniProtKB:Q49AE6", "UMLS:C1455235", "MESH:C488448", "UniProtKB:Q9BPZ3", "PR:Q9BPZ3", "ENSEMBL:ENSP00000265192", "ENSEMBL:ENSP00000265192.4", "ENSEMBL:ENSP00000378275", "ENSEMBL:ENSP00000378275.2", "ENSEMBL:ENSP00000422508", "ENSEMBL:ENSP00000422508.1"], "information_content": 92.8}
{"id": "UniProtKB:P43243-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "matrin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P43243-1", "PR:P43243-1", "ENSEMBL:ENSP00000378284", "ENSEMBL:ENSP00000378284.3", "ENSEMBL:ENSP00000482895", "ENSEMBL:ENSP00000482895.1"], "information_content": 100.0}
{"id": "UniProtKB:Q32MK0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin light chain kinase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q32MK0-3", "PR:Q32MK0-3", "ENSEMBL:ENSP00000378288", "ENSEMBL:ENSP00000378288.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9H987-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptopodin 2-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H987-1", "PR:Q9H987-1", "ENSEMBL:ENSP00000378289", "ENSEMBL:ENSP00000378289.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6KB66-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin, type II cytoskeletal 80 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6KB66-1", "PR:Q6KB66-1", "ENSEMBL:ENSP00000378292", "ENSEMBL:ENSP00000378292.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQS7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inner centromere protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQS7-1", "PR:Q9NQS7-1", "ENSEMBL:ENSP00000378295", "ENSEMBL:ENSP00000378295.3"], "information_content": 100.0}
{"id": "UniProtKB:P16298-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:P16298-4", "PR:P16298-4", "ENSEMBL:ENSP00000378306", "ENSEMBL:ENSP00000378306.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0K1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metal cation symporter ZIP8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0K1-1", "PR:Q9C0K1-1", "ENSEMBL:ENSP00000349174", "ENSEMBL:ENSP00000349174.4", "ENSEMBL:ENSP00000378310", "ENSEMBL:ENSP00000378310.2", "ENSEMBL:ENSP00000507414", "ENSEMBL:ENSP00000507414.1", "ENSEMBL:ENSP00000507538", "ENSEMBL:ENSP00000507538.1", "ENSEMBL:ENSP00000508363", "ENSEMBL:ENSP00000508363.1"], "information_content": 100.0}
{"id": "UniProtKB:A4FU69-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EF-hand calcium-binding domain-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A4FU69-1", "PR:A4FU69-1", "ENSEMBL:ENSP00000378312", "ENSEMBL:ENSP00000378312.3"], "information_content": 100.0}
{"id": "MONDO:0002216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain sarcoma", "equivalent_identifiers": ["MONDO:0002216", "DOID:2132", "UMLS:C1332607", "MEDDRA:10073857", "NCIT:C5154", "medgen:272381"], "information_content": 88.2}
{"id": "UniProtKB:Q8TBN0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide exchange factor for Rab-3A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBN0-1", "PR:Q8TBN0-1", "ENSEMBL:ENSP00000378313", "ENSEMBL:ENSP00000378313.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULT0-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetratricopeptide repeat protein 7A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULT0-4", "PR:Q9ULT0-4", "ENSEMBL:ENSP00000378320", "ENSEMBL:ENSP00000378320.2"], "information_content": 100.0}
{"id": "UniProtKB:Q08209-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 3 catalytic subunit alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q08209-1", "PR:Q08209-1", "ENSEMBL:ENSP00000378323", "ENSEMBL:ENSP00000378323.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WW22-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily A member 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WW22-2", "PR:Q8WW22-2", "ENSEMBL:ENSP00000378324", "ENSEMBL:ENSP00000378324.3"], "information_content": 100.0}
{"id": "MONDO:0008908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MGAT2-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0008908", "DOID:0070253", "OMIM:212066", "orphanet:79329", "UMLS:C2931008", "MESH:C535752", "SNOMEDCT:277894008", "SNOMEDCT:724142005", "medgen:443956"], "information_content": 100.0}
{"id": "UniProtKB:P21754-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zona pellucida sperm-binding protein 3 isoform hZP3A (human)", "equivalent_identifiers": ["UniProtKB:P21754-1", "PR:P21754-1", "ENSEMBL:ENSP00000378326", "ENSEMBL:ENSP00000378326.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86YJ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 13B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YJ7-1", "PR:Q86YJ7-1", "ENSEMBL:ENSP00000378328", "ENSEMBL:ENSP00000378328.3", "ENSEMBL:ENSP00000431958", "ENSEMBL:ENSP00000431958.1", "ENSEMBL:ENSP00000481530", "ENSEMBL:ENSP00000481530.1"], "information_content": 100.0}
{"id": "UniProtKB:O43294-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transforming growth factor beta-1-induced transcript 1 protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43294-1", "PR:O43294-1", "ENSEMBL:ENSP00000378332", "ENSEMBL:ENSP00000378332.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2X7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ARF GTPase-activating protein GIT1 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2X7-3", "PR:Q9Y2X7-3", "ENSEMBL:ENSP00000378338", "ENSEMBL:ENSP00000378338.3"], "information_content": 100.0}
{"id": "NCBIGene:1288", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL4A6", "equivalent_identifiers": ["NCBIGene:1288", "ENSEMBL:ENSG00000197565", "HGNC:2208", "OMIM:303631", "UMLS:C1332775", "UniProtKB:A0A087WZY5", "ENSEMBL:ENSP00000482970", "ENSEMBL:ENSP00000482970.1", "UMLS:C3177317", "MESH:C559044", "UniProtKB:A8MXH5", "ENSEMBL:ENSP00000378340", "ENSEMBL:ENSP00000378340.3", "UniProtKB:A8VPY0", "UniProtKB:B2RTX6", "UniProtKB:B7ZMM7", "UniProtKB:F5H3Q5", "ENSEMBL:ENSP00000445236", "ENSEMBL:ENSP00000445236.1", "UniProtKB:Q14031", "PR:Q14031", "UMLS:C1333080"]}
{"id": "UniProtKB:Q9UJX2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell division cycle protein 23 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJX2-1", "PR:Q9UJX2-1", "ENSEMBL:ENSP00000378350", "ENSEMBL:ENSP00000378350.2"], "information_content": 95.4}
{"id": "UniProtKB:O95235-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF20A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95235-1", "PR:O95235-1", "ENSEMBL:ENSP00000378356", "ENSEMBL:ENSP00000378356.3"], "information_content": 100.0}
{"id": "UniProtKB:P28332-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alcohol dehydrogenase 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P28332-2", "PR:P28332-2", "ENSEMBL:ENSP00000378359", "ENSEMBL:ENSP00000378359.2"], "information_content": 100.0}
{"id": "UniProtKB:Q3LXA3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "triokinase/FMN cyclase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3LXA3-1", "PR:Q3LXA3-1", "ENSEMBL:ENSP00000378360", "ENSEMBL:ENSP00000378360.3"], "information_content": 100.0}
{"id": "UniProtKB:P49281-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "natural resistance-associated macrophage protein 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P49281-3", "PR:P49281-3", "ENSEMBL:ENSP00000378364", "ENSEMBL:ENSP00000378364.3"], "information_content": 100.0}
{"id": "NCBIGene:10344", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL26", "equivalent_identifiers": ["NCBIGene:10344", "ENSEMBL:ENSG00000006606", "HGNC:10625", "OMIM:604697", "UMLS:C1364113", "UniProtKB:Q9Y258", "PR:Q9Y258", "ENSEMBL:ENSP00000005180", "ENSEMBL:ENSP00000005180.4", "ENSEMBL:ENSP00000378365", "ENSEMBL:ENSP00000378365.2", "UMLS:C0907797", "MESH:C120429"], "information_content": 100.0}
{"id": "MONDO:0001648", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal candidiasis", "equivalent_identifiers": ["MONDO:0001648", "DOID:13146", "UMLS:C0239295", "MEDDRA:10007137", "MEDDRA:10007139", "MEDDRA:10007150", "MEDDRA:10007161", "MEDDRA:10015364", "MEDDRA:10015365", "MEDDRA:10030153", "MEDDRA:10030154", "MEDDRA:10056094", "MEDDRA:10065047", "MEDDRA:10065056", "MEDDRA:10072014", "MEDDRA:10072015", "MEDDRA:10072016", "NCIT:C27027", "SNOMEDCT:20639004", "medgen:66784", "ICD10:B37.81", "ICD9:112.84", "HP:0033351"], "information_content": 100.0}
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{"id": "NCBIGene:2319", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FLOT2", "equivalent_identifiers": ["NCBIGene:2319", "ENSEMBL:ENSG00000132589", "HGNC:3758", "OMIM:131560", "UMLS:C1414639", "UniProtKB:J3QLD9", "ENSEMBL:ENSP00000463503", "ENSEMBL:ENSP00000463503.1", "UniProtKB:Q14254", "PR:Q14254", "ENSEMBL:ENSP00000378368", "ENSEMBL:ENSP00000378368.3", "UMLS:C1579837", "UniProtKB:Q6FG43", "UniProtKB:Q9BTI6"], "information_content": 88.2}
{"id": "UniProtKB:P07602-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prosaposin isoform hSap-mu-0 (human)", "equivalent_identifiers": ["UniProtKB:P07602-1", "PR:P07602-1", "ENSEMBL:ENSP00000378394", "ENSEMBL:ENSP00000378394.3"], "information_content": 100.0}
{"id": "NCBIGene:112840", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR89", "equivalent_identifiers": ["NCBIGene:112840", "ENSEMBL:ENSG00000140006", "HGNC:20489", "UMLS:C1823849", "UniProtKB:Q96FK6", "PR:Q96FK6", "ENSEMBL:ENSP00000267522", "ENSEMBL:ENSP00000267522.3", "ENSEMBL:ENSP00000378399", "ENSEMBL:ENSP00000378399.2", "ENSEMBL:ENSP00000480112", "ENSEMBL:ENSP00000480112.1"], "information_content": 100.0}
{"id": "MONDO:0009113", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hemolytic anemia due to diphosphoglycerate mutase deficiency", "equivalent_identifiers": ["MONDO:0009113", "DOID:0111630", "OMIM:222800", "orphanet:714", "UMLS:C1291620", "NCIT:C131638", "SNOMEDCT:124678007", "medgen:489898"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHB6-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM domain and actin-binding protein 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHB6-4", "PR:Q9UHB6-4", "ENSEMBL:ENSP00000378400", "ENSEMBL:ENSP00000378400.3"], "information_content": 100.0}
{"id": "NCBIGene:6695", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPOCK1", "equivalent_identifiers": ["NCBIGene:6695", "ENSEMBL:ENSG00000152377", "HGNC:11251", "OMIM:602264", "UMLS:C1420365", "UniProtKB:Q08629", "PR:Q08629", "ENSEMBL:ENSP00000378401", "ENSEMBL:ENSP00000378401.1", "UMLS:C1312887", "MESH:C504369"], "information_content": 95.4}
{"id": "NCBIGene:25942", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIN3A", "equivalent_identifiers": ["NCBIGene:25942", "ENSEMBL:ENSG00000169375", "HGNC:19353", "OMIM:607776", "UMLS:C1426185", "UniProtKB:Q96ST3", "PR:Q96ST3", "ENSEMBL:ENSP00000353622", "ENSEMBL:ENSP00000353622.4", "ENSEMBL:ENSP00000378402", "ENSEMBL:ENSP00000378402.3", "ENSEMBL:ENSP00000378403", "ENSEMBL:ENSP00000378403.4", "ENSEMBL:ENSP00000454296", "ENSEMBL:ENSP00000454296.2", "ENSEMBL:ENSP00000455204", "ENSEMBL:ENSP00000455204.2", "ENSEMBL:ENSP00000515834", "ENSEMBL:ENSP00000515834.1", "UMLS:C1740232"], "information_content": 90.9}
{"id": "UniProtKB:O14874-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "branched-chain alpha-ketoacid dehydrogenase kinase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14874-1", "PR:O14874-1", "ENSEMBL:ENSP00000219794", "ENSEMBL:ENSP00000219794.6", "ENSEMBL:ENSP00000378405", "ENSEMBL:ENSP00000378405.1"], "information_content": 100.0}
{"id": "NCBIGene:2875", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPT", "equivalent_identifiers": ["NCBIGene:2875", "ENSEMBL:ENSG00000167701", "HGNC:4552", "OMIM:138200", "UMLS:C1415274", "UniProtKB:P24298", "PR:P24298", "ENSEMBL:ENSP00000378408", "ENSEMBL:ENSP00000378408.2", "ENSEMBL:ENSP00000433586", "ENSEMBL:ENSP00000433586.1", "UMLS:C3887708"], "information_content": 90.9}
{"id": "NCBIGene:64115", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VSIR", "equivalent_identifiers": ["NCBIGene:64115", "ENSEMBL:ENSG00000107738", "HGNC:30085", "OMIM:615608", "UMLS:C1824302", "UniProtKB:Q9H7M9", "PR:Q9H7M9", "ENSEMBL:ENSP00000378409", "ENSEMBL:ENSP00000378409.3", "UMLS:C3849921", "UMLS:C4049985", "MESH:C000588758"], "information_content": 80.6}
{"id": "UniProtKB:Q96GM5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GM5-1", "PR:Q96GM5-1", "ENSEMBL:ENSP00000378414", "ENSEMBL:ENSP00000378414.4"], "information_content": 100.0}
{"id": "UniProtKB:P13196-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-aminolevulinate synthase, non-specific, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13196-1", "PR:P13196-1", "ENSEMBL:ENSP00000309259", "ENSEMBL:ENSP00000309259.2", "ENSEMBL:ENSP00000378416", "ENSEMBL:ENSP00000378416.2", "ENSEMBL:ENSP00000417719", "ENSEMBL:ENSP00000417719.1", "ENSEMBL:ENSP00000418779", "ENSEMBL:ENSP00000418779.1"], "information_content": 100.0}
{"id": "NCBIGene:100131390", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SP9", "equivalent_identifiers": ["NCBIGene:100131390", "ENSEMBL:ENSG00000217236", "HGNC:30690", "OMIM:621003", "UMLS:C2680436", "UniProtKB:P0CG40", "PR:P0CG40", "ENSEMBL:ENSP00000378418", "ENSEMBL:ENSP00000378418.2"], "information_content": 92.8}
{"id": "UniProtKB:Q9BQB6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vitamin K epoxide reductase complex subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQB6-1", "PR:Q9BQB6-1", "ENSEMBL:ENSP00000378426", "ENSEMBL:ENSP00000378426.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13201-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multimerin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13201-1", "PR:Q13201-1", "ENSEMBL:ENSP00000264790", "ENSEMBL:ENSP00000264790.2", "ENSEMBL:ENSP00000378431", "ENSEMBL:ENSP00000378431.1"], "information_content": 100.0}
{"id": "NCBIGene:594855", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPLX3", "equivalent_identifiers": ["NCBIGene:594855", "ENSEMBL:ENSG00000213578", "HGNC:27652", "OMIM:609585", "UMLS:C1824784", "UniProtKB:A0A384N6F4", "UMLS:C3252012", "MESH:C567959", "UniProtKB:Q8WVH0", "PR:Q8WVH0", "ENSEMBL:ENSP00000378464", "ENSEMBL:ENSP00000378464.4"], "information_content": 95.4}
{"id": "UniProtKB:Q5MAI5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase-like 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5MAI5-1", "PR:Q5MAI5-1", "ENSEMBL:ENSP00000378476", "ENSEMBL:ENSP00000378476.3"], "information_content": 100.0}
{"id": "NCBIGene:10287", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RGS19", "equivalent_identifiers": ["NCBIGene:10287", "ENSEMBL:ENSG00000171700", "HGNC:13735", "OMIM:605071", "UMLS:C1422173", "UniProtKB:B4DP94", "UniProtKB:P49795", "PR:P49795", "ENSEMBL:ENSP00000333194", "ENSEMBL:ENSP00000333194.5", "ENSEMBL:ENSP00000378483", "ENSEMBL:ENSP00000378483.1", "UMLS:C1741255"], "information_content": 100.0}
{"id": "UniProtKB:P42679-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "megakaryocyte-associated tyrosine-protein kinase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P42679-2", "PR:P42679-2", "ENSEMBL:ENSP00000378485", "ENSEMBL:ENSP00000378485.1", "ENSEMBL:ENSP00000483213", "ENSEMBL:ENSP00000483213.1"], "information_content": 100.0}
{"id": "NCBIGene:7416", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VDAC1", "equivalent_identifiers": ["NCBIGene:7416", "ENSEMBL:ENSG00000213585", "HGNC:12669", "OMIM:604492", "UMLS:C1336930", "UniProtKB:A0A1L1UHR1", "UniProtKB:B3KTS5", "UniProtKB:P21796", "PR:P21796", "ENSEMBL:ENSP00000265333", "ENSEMBL:ENSP00000265333.3", "ENSEMBL:ENSP00000378484", "ENSEMBL:ENSP00000378484.3", "ENSEMBL:ENSP00000378487", "ENSEMBL:ENSP00000378487.2", "UMLS:C1259712", "MESH:C494762"], "information_content": 87.2}
{"id": "UniProtKB:P04798-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 1A1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P04798-1", "PR:P04798-1", "ENSEMBL:ENSP00000369050", "ENSEMBL:ENSP00000369050.3", "ENSEMBL:ENSP00000378488", "ENSEMBL:ENSP00000378488.2", "ENSEMBL:ENSP00000456585", "ENSEMBL:ENSP00000456585.1"], "information_content": 100.0}
{"id": "NCBIGene:2912", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRM2", "equivalent_identifiers": ["NCBIGene:2912", "ENSEMBL:ENSG00000164082", "HGNC:4594", "OMIM:604099", "UMLS:C1415306", "UniProtKB:H7BXL3", "ENSEMBL:ENSP00000296479", "ENSEMBL:ENSP00000296479.5", "UniProtKB:Q14416", "PR:Q14416", "ENSEMBL:ENSP00000378492", "ENSEMBL:ENSP00000378492.3", "UMLS:C3889621"], "information_content": 92.8}
{"id": "UniProtKB:Q9H4D5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear RNA export factor 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4D5-1", "PR:Q9H4D5-1", "ENSEMBL:ENSP00000378504", "ENSEMBL:ENSP00000378504.3"], "information_content": 100.0}
{"id": "MONDO:0003182", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior horn disorder", "equivalent_identifiers": ["MONDO:0003182", "DOID:4873", "UMLS:C0154681", "UMLS:C4020812", "MEDDRA:10002694", "MEDDRA:10002695", "MEDDRA:10002696", "MEDDRA:10045639", "SNOMEDCT:85672005", "medgen:102314", "ICD9:335", "HP:0006802"], "information_content": 68.4}
{"id": "UniProtKB:P49761-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein kinase CLK3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49761-1", "PR:P49761-1", "ENSEMBL:ENSP00000344112", "ENSEMBL:ENSP00000344112.4", "ENSEMBL:ENSP00000378505", "ENSEMBL:ENSP00000378505.4"], "information_content": 100.0}
{"id": "UniProtKB:P10451-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "osteopontin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P10451-1", "PR:P10451-1", "ENSEMBL:ENSP00000378517", "ENSEMBL:ENSP00000378517.3", "ENSEMBL:ENSP00000477824", "ENSEMBL:ENSP00000477824.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UM11-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fizzy-related protein homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UM11-1", "PR:Q9UM11-1", "ENSEMBL:ENSP00000378529", "ENSEMBL:ENSP00000378529.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ76-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "matrix extracellular phosphoglycoprotein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ76-2", "PR:Q9NQ76-2", "ENSEMBL:ENSP00000378534", "ENSEMBL:ENSP00000378534.4"], "information_content": 100.0}
{"id": "NCBIGene:140685", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB46", "equivalent_identifiers": ["NCBIGene:140685", "ENSEMBL:ENSG00000130584", "HGNC:16094", "OMIM:614639", "UMLS:C1823912", "UniProtKB:A0A494BZW5", "ENSEMBL:ENSP00000498245", "ENSEMBL:ENSP00000498245.1", "UniProtKB:Q6ZMU8", "UniProtKB:Q86UZ6", "PR:Q86UZ6", "ENSEMBL:ENSP00000245663", "ENSEMBL:ENSP00000245663.3", "ENSEMBL:ENSP00000303102", "ENSEMBL:ENSP00000303102.2", "ENSEMBL:ENSP00000378536", "ENSEMBL:ENSP00000378536.1", "UMLS:C3493869", "MESH:C574225"], "information_content": 100.0}
{"id": "NCBIGene:64582", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR135", "equivalent_identifiers": ["NCBIGene:64582", "ENSEMBL:ENSG00000181619", "HGNC:19991", "OMIM:607970", "UMLS:C1426588", "UniProtKB:Q8IZ08", "PR:Q8IZ08", "ENSEMBL:ENSP00000378548", "ENSEMBL:ENSP00000378548.1", "ENSEMBL:ENSP00000432696", "ENSEMBL:ENSP00000432696.1", "UMLS:C5196940", "MESH:C000630551"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4D1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disheveled-associated activator of morphogenesis 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4D1-1", "PR:Q9Y4D1-1", "ENSEMBL:ENSP00000378557", "ENSEMBL:ENSP00000378557.1"], "information_content": 100.0}
{"id": "NCBIGene:10471", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PFDN6", "equivalent_identifiers": ["NCBIGene:10471", "ENSEMBL:ENSG00000204220", "HGNC:4926", "OMIM:605660", "UMLS:C1826568", "UniProtKB:O15212", "PR:O15212", "ENSEMBL:ENSP00000363734", "ENSEMBL:ENSP00000363734.5", "ENSEMBL:ENSP00000363735", "ENSEMBL:ENSP00000363735.1", "ENSEMBL:ENSP00000363738", "ENSEMBL:ENSP00000363738.2", "ENSEMBL:ENSP00000372694", "ENSEMBL:ENSP00000372694.2", "ENSEMBL:ENSP00000378563", "ENSEMBL:ENSP00000378563.1", "ENSEMBL:ENSP00000382314", "ENSEMBL:ENSP00000382314.3", "ENSEMBL:ENSP00000382316", "ENSEMBL:ENSP00000382316.1", "ENSEMBL:ENSP00000395462", "ENSEMBL:ENSP00000395462.2", "ENSEMBL:ENSP00000398171", "ENSEMBL:ENSP00000398171.1", "ENSEMBL:ENSP00000400152", "ENSEMBL:ENSP00000400152.2", "ENSEMBL:ENSP00000402212", "ENSEMBL:ENSP00000402212.1", "ENSEMBL:ENSP00000402553", "ENSEMBL:ENSP00000402553.1", "ENSEMBL:ENSP00000403771", "ENSEMBL:ENSP00000403771.1", "ENSEMBL:ENSP00000404773", "ENSEMBL:ENSP00000404773.1", "ENSEMBL:ENSP00000412319", "ENSEMBL:ENSP00000412319.2", "ENSEMBL:ENSP00000415678", "ENSEMBL:ENSP00000415678.1", "ENSEMBL:ENSP00000447540", "ENSEMBL:ENSP00000447540.1", "ENSEMBL:ENSP00000448607", "ENSEMBL:ENSP00000448607.1", "ENSEMBL:ENSP00000448784", "ENSEMBL:ENSP00000448784.1", "ENSEMBL:ENSP00000449925", "ENSEMBL:ENSP00000449925.1", "UniProtKB:Q5STK2"], "information_content": 92.8}
{"id": "UniProtKB:P0DMM9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sulfotransferase 1A3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0DMM9-1", "PR:P0DMM9-1", "ENSEMBL:ENSP00000343645", "ENSEMBL:ENSP00000343645.6", "ENSEMBL:ENSP00000378570", "ENSEMBL:ENSP00000378570.2"], "information_content": 100.0}
{"id": "NCBIGene:1365", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN3", "equivalent_identifiers": ["NCBIGene:1365", "ENSEMBL:ENSG00000165215", "HGNC:2045", "OMIM:602910", "UMLS:C1413473", "UniProtKB:O15551", "PR:O15551", "ENSEMBL:ENSP00000378577", "ENSEMBL:ENSP00000378577.2", "UMLS:C1429717", "MESH:C568122", "UniProtKB:Q75L79"], "information_content": 95.4}
{"id": "UniProtKB:P51825-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AF4/FMR2 family member 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51825-2", "PR:P51825-2", "ENSEMBL:ENSP00000378578", "ENSEMBL:ENSP00000378578.4"], "information_content": 100.0}
{"id": "NCBIGene:26520", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMM9", "equivalent_identifiers": ["NCBIGene:26520", "ENSEMBL:ENSG00000100575", "HGNC:11819", "OMIM:607384", "UMLS:C1420742", "UniProtKB:A0A1W2PQS5", "ENSEMBL:ENSP00000492122", "ENSEMBL:ENSP00000492122.1", "UniProtKB:A0A1W2PRH9", "ENSEMBL:ENSP00000492665", "ENSEMBL:ENSP00000492665.1", "UniProtKB:G3V502", "ENSEMBL:ENSP00000452091", "ENSEMBL:ENSP00000452091.1", "UniProtKB:Q9Y5J7", "PR:Q9Y5J7", "ENSEMBL:ENSP00000378588", "ENSEMBL:ENSP00000378588.2", "ENSEMBL:ENSP00000450638", "ENSEMBL:ENSP00000450638.1", "ENSEMBL:ENSP00000451006", "ENSEMBL:ENSP00000451006.1", "ENSEMBL:ENSP00000451198", "ENSEMBL:ENSP00000451198.1"], "information_content": 92.8}
{"id": "NCBIGene:84277", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJC30", "equivalent_identifiers": ["NCBIGene:84277", "ENSEMBL:ENSG00000176410", "HGNC:16410", "OMIM:618202", "UMLS:C2681419", "UniProtKB:B3KSU4", "UMLS:C5773205", "MESH:C000726312", "UniProtKB:Q96LL9", "PR:Q96LL9", "ENSEMBL:ENSP00000378605", "ENSEMBL:ENSP00000378605.1"], "information_content": 95.4}
{"id": "UniProtKB:Q8N264-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 24 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N264-1", "PR:Q8N264-1", "ENSEMBL:ENSP00000378611", "ENSEMBL:ENSP00000378611.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5GLZ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable E3 ubiquitin-protein ligase HERC4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5GLZ8-1", "PR:Q5GLZ8-1", "ENSEMBL:ENSP00000378624", "ENSEMBL:ENSP00000378624.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13474-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dystrophin-related protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13474-1", "PR:Q13474-1", "ENSEMBL:ENSP00000378635", "ENSEMBL:ENSP00000378635.3", "ENSEMBL:ENSP00000385038", "ENSEMBL:ENSP00000385038.1", "ENSEMBL:ENSP00000441051", "ENSEMBL:ENSP00000441051.1"], "information_content": 100.0}
{"id": "UniProtKB:O95947-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-box transcription factor TBX6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95947-1", "PR:O95947-1", "ENSEMBL:ENSP00000279386", "ENSEMBL:ENSP00000279386.2", "ENSEMBL:ENSP00000378650", "ENSEMBL:ENSP00000378650.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96HA1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear envelope pore membrane protein POM 121 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96HA1-3", "PR:Q96HA1-3", "ENSEMBL:ENSP00000378687", "ENSEMBL:ENSP00000378687.1"], "information_content": 100.0}
{"id": "MONDO:0001870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute poststreptococcal glomerulonephritis", "equivalent_identifiers": ["MONDO:0001870", "DOID:14064", "UMLS:C0403414", "MEDDRA:10036303", "SNOMEDCT:68544003", "medgen:140785"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXU9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-binding protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXU9-2", "PR:Q9BXU9-2", "ENSEMBL:ENSP00000378690", "ENSEMBL:ENSP00000378690.2"], "information_content": 100.0}
{"id": "MONDO:0012003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 39", "equivalent_identifiers": ["MONDO:0012003", "DOID:0110497", "OMIM:608265", "UMLS:C1842342", "MESH:C564265", "NCIT:C129874", "medgen:374909"], "information_content": 100.0}
{"id": "UniProtKB:P06493-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P06493-1", "PR:P06493-1", "ENSEMBL:ENSP00000378699", "ENSEMBL:ENSP00000378699.3"], "information_content": 89.4}
{"id": "UniProtKB:P25440-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain-containing protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P25440-2", "PR:P25440-2", "ENSEMBL:ENSP00000378702", "ENSEMBL:ENSP00000378702.1", "ENSEMBL:ENSP00000382443", "ENSEMBL:ENSP00000382443.1", "ENSEMBL:ENSP00000410994", "ENSEMBL:ENSP00000410994.1", "ENSEMBL:ENSP00000412885", "ENSEMBL:ENSP00000412885.1"], "information_content": 100.0}
{"id": "UniProtKB:Q49AJ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM135B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q49AJ0-1", "PR:Q49AJ0-1", "ENSEMBL:ENSP00000378710", "ENSEMBL:ENSP00000378710.1"], "information_content": 100.0}
{"id": "UniProtKB:Q1ZYL8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "izumo sperm-egg fusion protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q1ZYL8-1", "PR:Q1ZYL8-1", "ENSEMBL:ENSP00000378712", "ENSEMBL:ENSP00000378712.3"], "information_content": 100.0}
{"id": "MONDO:0006544", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythema infectiosum", "equivalent_identifiers": ["MONDO:0006544", "DOID:8743", "EFO:1000693", "UMLS:C0085273", "MESH:D016731", "MEDDRA:10015214", "MEDDRA:10015215", "MEDDRA:10016670", "MEDDRA:10034099", "NCIT:C84695", "SNOMEDCT:34730008", "medgen:43142", "icd11.foundation:352375140", "ICD10:B08.3", "ICD9:057.0"], "information_content": 100.0}
{"id": "UniProtKB:O94979-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein transport protein Sec31A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94979-1", "PR:O94979-1", "ENSEMBL:ENSP00000347329", "ENSEMBL:ENSP00000347329.2", "ENSEMBL:ENSP00000378721", "ENSEMBL:ENSP00000378721.2", "ENSEMBL:ENSP00000400926", "ENSEMBL:ENSP00000400926.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86UP2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinectin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UP2-1", "PR:Q86UP2-1", "ENSEMBL:ENSP00000378725", "ENSEMBL:ENSP00000378725.3", "ENSEMBL:ENSP00000432149", "ENSEMBL:ENSP00000432149.1"], "information_content": 100.0}
{"id": "NCBIGene:230", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALDOC", "equivalent_identifiers": ["NCBIGene:230", "ENSEMBL:ENSG00000109107", "HGNC:418", "OMIM:103870", "UMLS:C1412348", "UniProtKB:A0A024QZ64", "UniProtKB:P09972", "PR:P09972", "ENSEMBL:ENSP00000226253", "ENSEMBL:ENSP00000226253.4", "ENSEMBL:ENSP00000378731", "ENSEMBL:ENSP00000378731.2"], "information_content": 90.9}
{"id": "UniProtKB:O75575-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed RNA polymerase III subunit RPC9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75575-1", "PR:O75575-1", "ENSEMBL:ENSP00000378736", "ENSEMBL:ENSP00000378736.3"], "information_content": 100.0}
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{"id": "UniProtKB:O43561-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "linker for activation of T-cells family member 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O43561-3", "PR:O43561-3", "ENSEMBL:ENSP00000378845", "ENSEMBL:ENSP00000378845.3"], "information_content": 100.0}
{"id": "NCBIGene:93487", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAPK1IP1L", "equivalent_identifiers": ["NCBIGene:93487", "ENSEMBL:ENSG00000168175", "HGNC:19840", "OMIM:617226", "UMLS:C2239669", "UniProtKB:Q8NDC0", "PR:Q8NDC0", "ENSEMBL:ENSP00000378851", "ENSEMBL:ENSP00000378851.3", "UMLS:C5196666", "MESH:C000629824"], "information_content": 95.4}
{"id": "NCBIGene:5723", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSPH", "equivalent_identifiers": ["NCBIGene:5723", "ENSEMBL:ENSG00000146733", "HGNC:9577", "OMIM:172480", "UMLS:C1419048", "UniProtKB:P78330", "PR:P78330", "ENSEMBL:ENSP00000275605", "ENSEMBL:ENSP00000275605.3", "ENSEMBL:ENSP00000378854", "ENSEMBL:ENSP00000378854.3", "ENSEMBL:ENSP00000401639", "ENSEMBL:ENSP00000401639.2"], "information_content": 95.4}
{"id": "UniProtKB:O00182-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "galectin-9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00182-1", "PR:O00182-1", "ENSEMBL:ENSP00000378856", "ENSEMBL:ENSP00000378856.2"], "information_content": 100.0}
{"id": "NCBIGene:29974", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "A1CF", "equivalent_identifiers": ["NCBIGene:29974", "ENSEMBL:ENSG00000148584", "HGNC:24086", "OMIM:618199", "UMLS:C2240226", "UniProtKB:B4E1E3", "UniProtKB:F8W9F8", "ENSEMBL:ENSP00000378868", "ENSEMBL:ENSP00000378868.3", "UniProtKB:Q9NQ94", "PR:Q9NQ94", "UMLS:C0104364", "MESH:C411647"]}
{"id": "DOID:0070274", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary nonpolyposis colorectal cancer type 2", "equivalent_identifiers": ["DOID:0070274"]}
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{"id": "NCBIGene:80864", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EGFL8", "equivalent_identifiers": ["NCBIGene:80864", "ENSEMBL:ENSG00000241404", "HGNC:13944", "OMIM:609897", "UMLS:C1422291", "UniProtKB:A0A1U9X7N9", "UMLS:C3253372", "MESH:C561775", "UniProtKB:Q99944", "PR:Q99944", "ENSEMBL:ENSP00000333380", "ENSEMBL:ENSP00000333380.6", "ENSEMBL:ENSP00000378888", "ENSEMBL:ENSP00000378888.1", "ENSEMBL:ENSP00000382556", "ENSEMBL:ENSP00000382556.1", "ENSEMBL:ENSP00000388000", "ENSEMBL:ENSP00000388000.1", "ENSEMBL:ENSP00000390866", "ENSEMBL:ENSP00000390866.1", "ENSEMBL:ENSP00000394193", "ENSEMBL:ENSP00000394193.2", "ENSEMBL:ENSP00000397426", "ENSEMBL:ENSP00000397426.2", "ENSEMBL:ENSP00000398893", "ENSEMBL:ENSP00000398893.1", "ENSEMBL:ENSP00000405502", "ENSEMBL:ENSP00000405502.1", "ENSEMBL:ENSP00000407236", "ENSEMBL:ENSP00000407236.2", "ENSEMBL:ENSP00000411023", "ENSEMBL:ENSP00000411023.2", "ENSEMBL:ENSP00000414996", "ENSEMBL:ENSP00000414996.1", "ENSEMBL:ENSP00000415577", "ENSEMBL:ENSP00000415577.2", "ENSEMBL:ENSP00000416366", "ENSEMBL:ENSP00000416366.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NR71-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neutral ceramidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR71-1", "PR:Q9NR71-1", "ENSEMBL:ENSP00000378897", "ENSEMBL:ENSP00000378897.3", "ENSEMBL:ENSP00000506746", "ENSEMBL:ENSP00000506746.1"], "information_content": 100.0}
{"id": "UniProtKB:O75128-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein cordon-bleu isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:O75128-7", "PR:O75128-7", "ENSEMBL:ENSP00000378912", "ENSEMBL:ENSP00000378912.3"], "information_content": 100.0}
{"id": "NCBIGene:9706", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ULK2", "equivalent_identifiers": ["NCBIGene:9706", "ENSEMBL:ENSG00000083290", "HGNC:13480", "OMIM:608650", "UMLS:C1422013", "UniProtKB:Q8IYT8", "PR:Q8IYT8", "ENSEMBL:ENSP00000354877", "ENSEMBL:ENSP00000354877.2", "ENSEMBL:ENSP00000378914", "ENSEMBL:ENSP00000378914.4", "UMLS:C2716804", "MESH:C541703"], "information_content": 95.4}
{"id": "UniProtKB:Q8WWM7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ataxin-2-like protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWM7-3", "PR:Q8WWM7-3", "ENSEMBL:ENSP00000378917", "ENSEMBL:ENSP00000378917.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXS9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 26 member 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXS9-1", "PR:Q9BXS9-1", "ENSEMBL:ENSP00000378920", "ENSEMBL:ENSP00000378920.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEY8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "periphilin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEY8-1", "PR:Q8NEY8-1", "ENSEMBL:ENSP00000378935", "ENSEMBL:ENSP00000378935.2", "ENSEMBL:ENSP00000479913", "ENSEMBL:ENSP00000479913.1"], "information_content": 100.0}
{"id": "MONDO:0006108", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bile duct adenoma", "equivalent_identifiers": ["MONDO:0006108", "DOID:5381", "EFO:1000123", "UMLS:C0008309", "MESH:D002759", "MEDDRA:10008592", "NCIT:C2942", "SNOMEDCT:39471001", "SNOMEDCT:424091006", "medgen:918"], "information_content": 86.3}
{"id": "UniProtKB:P55083-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microfibril-associated glycoprotein 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P55083-2", "PR:P55083-2", "ENSEMBL:ENSP00000378957", "ENSEMBL:ENSP00000378957.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNT1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab-like protein 2B isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNT1-3", "PR:Q9UNT1-3", "ENSEMBL:ENSP00000378958", "ENSEMBL:ENSP00000378958.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13884-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-1-syntrophin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13884-1", "PR:Q13884-1", "ENSEMBL:ENSP00000378965", "ENSEMBL:ENSP00000378965.3", "ENSEMBL:ENSP00000431124", "ENSEMBL:ENSP00000431124.1"], "information_content": 100.0}
{"id": "UniProtKB:P45983-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase 8 isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:P45983-4", "PR:P45983-4", "ENSEMBL:ENSP00000363291", "ENSEMBL:ENSP00000363291.4", "ENSEMBL:ENSP00000378974", "ENSEMBL:ENSP00000378974.4"], "information_content": 100.0}
{"id": "NCBIGene:6799", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SULT1A2", "equivalent_identifiers": ["NCBIGene:6799", "ENSEMBL:ENSG00000197165", "HGNC:11454", "OMIM:601292", "UMLS:C1420515", "UniProtKB:E9PKW4", "ENSEMBL:ENSP00000435271", "ENSEMBL:ENSP00000435271.1", "UniProtKB:P50226", "PR:P50226", "ENSEMBL:ENSP00000338742", "ENSEMBL:ENSP00000338742.4", "ENSEMBL:ENSP00000378992", "ENSEMBL:ENSP00000378992.1", "UMLS:C1452191", "MESH:C513290"], "information_content": 100.0}
{"id": "UniProtKB:Q16612-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal regeneration-related protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16612-2", "PR:Q16612-2", "ENSEMBL:ENSP00000378996", "ENSEMBL:ENSP00000378996.3"], "information_content": 100.0}
{"id": "UniProtKB:O60356-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60356-2", "PR:O60356-2", "ENSEMBL:ENSP00000379003", "ENSEMBL:ENSP00000379003.2"], "information_content": 100.0}
{"id": "UniProtKB:A0PJK1-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/mannose cotransporter SLC5A10 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:A0PJK1-4", "PR:A0PJK1-4", "ENSEMBL:ENSP00000379008", "ENSEMBL:ENSP00000379008.2"], "information_content": 100.0}
{"id": "UniProtKB:Q92523-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carnitine O-palmitoyltransferase 1, muscle isoform isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92523-1", "PR:Q92523-1", "ENSEMBL:ENSP00000312189", "ENSEMBL:ENSP00000312189.8", "ENSEMBL:ENSP00000379011", "ENSEMBL:ENSP00000379011.2", "ENSEMBL:ENSP00000385486", "ENSEMBL:ENSP00000385486.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5XX13-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/WD repeat-containing protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5XX13-1", "PR:Q5XX13-1", "ENSEMBL:ENSP00000379025", "ENSEMBL:ENSP00000379025.4"], "information_content": 100.0}
{"id": "UniProtKB:Q93063-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "exostosin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q93063-1", "PR:Q93063-1", "ENSEMBL:ENSP00000342656", "ENSEMBL:ENSP00000342656.3", "ENSEMBL:ENSP00000379032", "ENSEMBL:ENSP00000379032.4", "ENSEMBL:ENSP00000431173", "ENSEMBL:ENSP00000431173.2", "ENSEMBL:ENSP00000507580", "ENSEMBL:ENSP00000507580.1", "ENSEMBL:ENSP00000508361", "ENSEMBL:ENSP00000508361.1"], "information_content": 100.0}
{"id": "MONDO:0002371", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast pericanalicular fibroadenoma", "equivalent_identifiers": ["MONDO:0002371", "DOID:2639", "UMLS:C0334497", "NCIT:C4272", "SNOMEDCT:41382006", "medgen:90794"], "information_content": 100.0}
{"id": "UniProtKB:P19971-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thymidine phosphorylase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P19971-2", "PR:P19971-2", "ENSEMBL:ENSP00000379038", "ENSEMBL:ENSP00000379038.1"], "information_content": 100.0}
{"id": "NCBIGene:30001", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERO1A", "equivalent_identifiers": ["NCBIGene:30001", "ENSEMBL:ENSG00000197930", "HGNC:13280", "OMIM:615435", "UMLS:C1421920", "UniProtKB:Q96HE7", "PR:Q96HE7", "ENSEMBL:ENSP00000379042", "ENSEMBL:ENSP00000379042.3", "UMLS:C1438821", "MESH:C405327"], "information_content": 95.4}
{"id": "NCBIGene:5814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PURB", "equivalent_identifiers": ["NCBIGene:5814", "ENSEMBL:ENSG00000146676", "HGNC:9702", "OMIM:608887", "UMLS:C1419138", "UniProtKB:Q96QR8", "PR:Q96QR8", "ENSEMBL:ENSP00000379051", "ENSEMBL:ENSP00000379051.2", "UMLS:C1452332", "MESH:C491579"], "information_content": 95.4}
{"id": "UniProtKB:Q96C03-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial dynamics protein MID49 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96C03-3", "PR:Q96C03-3", "ENSEMBL:ENSP00000379057", "ENSEMBL:ENSP00000379057.2", "ENSEMBL:ENSP00000492195", "ENSEMBL:ENSP00000492195.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHF7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger transcription factor Trps1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHF7-2", "PR:Q9UHF7-2", "ENSEMBL:ENSP00000379065", "ENSEMBL:ENSP00000379065.3"], "information_content": 100.0}
{"id": "NCBIGene:10919", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EHMT2", "equivalent_identifiers": ["NCBIGene:10919", "ENSEMBL:ENSG00000204371", "HGNC:14129", "OMIM:604599", "UMLS:C1825038", "UniProtKB:A0A024RCN9", "UMLS:C1101097", "MESH:C445405", "UniProtKB:A2ABF8", "ENSEMBL:ENSP00000364678", "ENSEMBL:ENSP00000364678.4", "ENSEMBL:ENSP00000382888", "ENSEMBL:ENSP00000382888.3", "ENSEMBL:ENSP00000400861", "ENSEMBL:ENSP00000400861.2", "ENSEMBL:ENSP00000403402", "ENSEMBL:ENSP00000403402.2", "UniProtKB:A2ABF9", "ENSEMBL:ENSP00000379078", "ENSEMBL:ENSP00000379078.3", "ENSEMBL:ENSP00000382886", "ENSEMBL:ENSP00000382886.3", "ENSEMBL:ENSP00000397323", "ENSEMBL:ENSP00000397323.2", "ENSEMBL:ENSP00000398286", "ENSEMBL:ENSP00000398286.2", "UniProtKB:B7Z852", "UniProtKB:Q59FM7", "UniProtKB:Q96KQ7", "PR:Q96KQ7", "ENSEMBL:ENSP00000396119", "ENSEMBL:ENSP00000396119.2", "ENSEMBL:ENSP00000416957", "ENSEMBL:ENSP00000416957.2"]}
{"id": "NCBIGene:79924", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADM2", "equivalent_identifiers": ["NCBIGene:79924", "ENSEMBL:ENSG00000128165", "HGNC:28898", "OMIM:608682", "UMLS:C1428749", "UniProtKB:Q7Z4H4", "PR:Q7Z4H4", "ENSEMBL:ENSP00000379086", "ENSEMBL:ENSP00000379086.1", "ENSEMBL:ENSP00000379087", "ENSEMBL:ENSP00000379087.2", "UMLS:C1450800", "MESH:C484330"], "information_content": 100.0}
{"id": "NCBIGene:685", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BTC", "equivalent_identifiers": ["NCBIGene:685", "ENSEMBL:ENSG00000174808", "HGNC:1121", "OMIM:600345", "UMLS:C1332453", "UniProtKB:A0A0S2Z3I5", "UniProtKB:A0A0S2Z437", "UniProtKB:P35070", "PR:P35070", "ENSEMBL:ENSP00000379092", "ENSEMBL:ENSP00000379092.3", "UMLS:C3884533", "MESH:C587851"], "information_content": 100.0}
{"id": "NCBIGene:374", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AREG", "equivalent_identifiers": ["NCBIGene:374", "ENSEMBL:ENSG00000109321", "HGNC:651", "OMIM:104640", "UMLS:C1332109", "UniProtKB:P15514", "PR:P15514", "ENSEMBL:ENSP00000379097", "ENSEMBL:ENSP00000379097.3", "UMLS:C3884535", "MESH:C587848"], "information_content": 95.4}
{"id": "UniProtKB:Q13554-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium/calmodulin-dependent protein kinase type II subunit beta isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:Q13554-1", "PR:Q13554-1", "ENSEMBL:ENSP00000379098", "ENSEMBL:ENSP00000379098.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H903-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9H903-4", "PR:Q9H903-4", "ENSEMBL:ENSP00000321984", "ENSEMBL:ENSP00000321984.7", "ENSEMBL:ENSP00000379108", "ENSEMBL:ENSP00000379108.2"], "information_content": 100.0}
{"id": "NCBIGene:2919", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCL1", "equivalent_identifiers": ["NCBIGene:2919", "ENSEMBL:ENSG00000163739", "HGNC:4602", "OMIM:155730", "UMLS:C0812445", "UniProtKB:P09341", "PR:P09341", "ENSEMBL:ENSP00000379110", "ENSEMBL:ENSP00000379110.3", "UMLS:C0131875", "MESH:C475829"], "information_content": 89.4}
{"id": "UniProtKB:P24394-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-4 receptor subunit alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P24394-1", "PR:P24394-1", "ENSEMBL:ENSP00000379111", "ENSEMBL:ENSP00000379111.2", "ENSEMBL:ENSP00000441667", "ENSEMBL:ENSP00000441667.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96GX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methylthioribulose-1-phosphate dehydratase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GX9-1", "PR:Q96GX9-1", "ENSEMBL:ENSP00000379133", "ENSEMBL:ENSP00000379133.3"], "information_content": 100.0}
{"id": "NCBIGene:174", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AFP", "equivalent_identifiers": ["NCBIGene:174", "ENSEMBL:ENSG00000081051", "HGNC:317", "OMIM:104150", "UMLS:C1367597", "UniProtKB:P02771", "PR:P02771", "ENSEMBL:ENSP00000379138", "ENSEMBL:ENSP00000379138.2", "UMLS:C1307640", "MESH:C097353"], "information_content": 77.3}
{"id": "MONDO:0003516", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult teratoma", "equivalent_identifiers": ["MONDO:0003516", "DOID:5565", "UMLS:C1368898", "NCIT:C9013", "medgen:277966"], "information_content": 89.4}
{"id": "UniProtKB:P48061-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stromal cell-derived factor 1 isoform Delta (human)", "equivalent_identifiers": ["UniProtKB:P48061-4", "PR:P48061-4", "ENSEMBL:ENSP00000379140", "ENSEMBL:ENSP00000379140.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDV7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trinucleotide repeat-containing gene 6A protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDV7-1", "PR:Q8NDV7-1", "ENSEMBL:ENSP00000379144", "ENSEMBL:ENSP00000379144.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6WCQ1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin phosphatase Rho-interacting protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6WCQ1-2", "PR:Q6WCQ1-2", "ENSEMBL:ENSP00000379156", "ENSEMBL:ENSP00000379156.4"], "information_content": 100.0}
{"id": "NCBIGene:57336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF287", "equivalent_identifiers": ["NCBIGene:57336", "ENSEMBL:ENSG00000141040", "HGNC:13502", "UMLS:C1422023", "UniProtKB:Q6PEZ3", "UniProtKB:Q9HBT7", "PR:Q9HBT7", "ENSEMBL:ENSP00000379168", "ENSEMBL:ENSP00000379168.1", "ENSEMBL:ENSP00000379169", "ENSEMBL:ENSP00000379169.3"], "information_content": 100.0}
{"id": "NCBIGene:80305", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRABD", "equivalent_identifiers": ["NCBIGene:80305", "ENSEMBL:ENSG00000170638", "HGNC:28805", "OMIM:621246", "UMLS:C1823475", "UniProtKB:J3KPT4", "ENSEMBL:ENSP00000379173", "ENSEMBL:ENSP00000379173.1", "UniProtKB:Q9H4I3", "PR:Q9H4I3"]}
{"id": "UniProtKB:Q9NP87-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed DNA/RNA polymerase mu isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP87-3", "PR:Q9NP87-3", "ENSEMBL:ENSP00000379174", "ENSEMBL:ENSP00000379174.3"], "information_content": 100.0}
{"id": "UniProtKB:Q00532-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase-like 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q00532-1", "PR:Q00532-1", "ENSEMBL:ENSP00000379176", "ENSEMBL:ENSP00000379176.2"], "information_content": 100.0}
{"id": "NCBIGene:8480", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAE1", "equivalent_identifiers": ["NCBIGene:8480", "ENSEMBL:ENSG00000101146", "HGNC:9828", "OMIM:603343", "UMLS:C1419246", "UniProtKB:P78406", "PR:P78406", "ENSEMBL:ENSP00000360286", "ENSEMBL:ENSP00000360286.2", "ENSEMBL:ENSP00000379181", "ENSEMBL:ENSP00000379181.2", "ENSEMBL:ENSP00000379182", "ENSEMBL:ENSP00000379182.2", "UMLS:C1453712", "MESH:C490522"], "information_content": 84.8}
{"id": "UniProtKB:Q96RD6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pannexin-2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96RD6-3", "PR:Q96RD6-3", "ENSEMBL:ENSP00000379183", "ENSEMBL:ENSP00000379183.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H867-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein N-lysine methyltransferase METTL21D isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9H867-4", "PR:Q9H867-4", "ENSEMBL:ENSP00000379201", "ENSEMBL:ENSP00000379201.2"], "information_content": 100.0}
{"id": "NCBIGene:655", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BMP7", "equivalent_identifiers": ["NCBIGene:655", "ENSEMBL:ENSG00000101144", "HGNC:1074", "OMIM:112267", "UMLS:C1332428", "UniProtKB:A8K571", "UniProtKB:P18075", "PR:P18075", "ENSEMBL:ENSP00000379204", "ENSEMBL:ENSP00000379204.3", "UMLS:C1454054", "MESH:C525819"], "information_content": 90.9}
{"id": "UniProtKB:Q7Z5L7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "podocan isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5L7-3", "PR:Q7Z5L7-3", "ENSEMBL:ENSP00000379212", "ENSEMBL:ENSP00000379212.3"], "information_content": 100.0}
{"id": "NCBIGene:55744", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COA1", "equivalent_identifiers": ["NCBIGene:55744", "ENSEMBL:ENSG00000106603", "HGNC:21868", "OMIM:614769", "UMLS:C1824229", "UniProtKB:F2Z2J3", "ENSEMBL:ENSP00000387433", "ENSEMBL:ENSP00000387433.1", "ENSEMBL:ENSP00000410365", "ENSEMBL:ENSP00000410365.1", "UniProtKB:Q9GZY4", "PR:Q9GZY4", "ENSEMBL:ENSP00000223336", "ENSEMBL:ENSP00000223336.6", "ENSEMBL:ENSP00000312100", "ENSEMBL:ENSP00000312100.6", "ENSEMBL:ENSP00000379218", "ENSEMBL:ENSP00000379218.1", "ENSEMBL:ENSP00000395586", "ENSEMBL:ENSP00000395586.1", "ENSEMBL:ENSP00000400759", "ENSEMBL:ENSP00000400759.1", "ENSEMBL:ENSP00000413777", "ENSEMBL:ENSP00000413777.1", "ENSEMBL:ENSP00000416406", "ENSEMBL:ENSP00000416406.1"], "information_content": 100.0}
{"id": "MONDO:0001042", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patellar tendinitis", "equivalent_identifiers": ["MONDO:0001042", "DOID:10471", "UMLS:C0158317", "MEDDRA:10034123", "SNOMEDCT:37785001", "medgen:510513", "icd11.foundation:1366847963", "ICD10:M76.5", "ICD9:726.64"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYF3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis-expressed protein 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYF3-1", "PR:Q8IYF3-1", "ENSEMBL:ENSP00000340995", "ENSEMBL:ENSP00000340995.3", "ENSEMBL:ENSP00000379226", "ENSEMBL:ENSP00000379226.2"], "information_content": 100.0}
{"id": "UniProtKB:Q76N89-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase HECW1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q76N89-1", "PR:Q76N89-1", "ENSEMBL:ENSP00000379228", "ENSEMBL:ENSP00000379228.1"], "information_content": 100.0}
{"id": "UniProtKB:O95170-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box and WD repeat domain containing protein 10B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95170-1", "PR:O95170-1", "ENSEMBL:ENSP00000379242", "ENSEMBL:ENSP00000379242.4"], "information_content": 100.0}
{"id": "NCBIGene:83988", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCALD", "equivalent_identifiers": ["NCBIGene:83988", "ENSEMBL:ENSG00000104490", "HGNC:7655", "OMIM:606722", "UMLS:C1417604", "UniProtKB:B2RB70", "UMLS:C1311449", "MESH:C496685", "UniProtKB:P61601", "PR:P61601", "ENSEMBL:ENSP00000220931", "ENSEMBL:ENSP00000220931.6", "ENSEMBL:ENSP00000310587", "ENSEMBL:ENSP00000310587.3", "ENSEMBL:ENSP00000379256", "ENSEMBL:ENSP00000379256.1", "ENSEMBL:ENSP00000428105", "ENSEMBL:ENSP00000428105.1", "ENSEMBL:ENSP00000430476", "ENSEMBL:ENSP00000430476.1"], "information_content": 88.2}
{"id": "NCBIGene:2737", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLI3", "equivalent_identifiers": ["NCBIGene:2737", "ENSEMBL:ENSG00000106571", "HGNC:4319", "OMIM:165240", "UMLS:C0812382", "UniProtKB:A0A2R8YGX0", "ENSEMBL:ENSP00000496377", "ENSEMBL:ENSP00000496377.1", "UniProtKB:P10071", "PR:P10071", "ENSEMBL:ENSP00000379258", "ENSEMBL:ENSP00000379258.3", "ENSEMBL:ENSP00000502957", "ENSEMBL:ENSP00000502957.1", "ENSEMBL:ENSP00000503743", "ENSEMBL:ENSP00000503743.1", "UMLS:C0082708", "MESH:C065683"], "information_content": 87.2}
{"id": "NCBIGene:64518", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEKT3", "equivalent_identifiers": ["NCBIGene:64518", "ENSEMBL:ENSG00000125409", "HGNC:14293", "OMIM:612683", "UMLS:C1422549", "UniProtKB:Q9BXF9", "PR:Q9BXF9", "ENSEMBL:ENSP00000343995", "ENSEMBL:ENSP00000343995.2", "ENSEMBL:ENSP00000379263", "ENSEMBL:ENSP00000379263.1", "UMLS:C1612083"], "information_content": 95.4}
{"id": "MONDO:0011909", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease dominant intermediate D", "equivalent_identifiers": ["MONDO:0011909", "DOID:0110200", "OMIM:607791", "orphanet:100046", "UMLS:C1843075", "MESH:C564333", "SNOMEDCT:765747004", "medgen:334318"], "information_content": 90.9}
{"id": "MONDO:0013337", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary sensory and autonomic, type 1C", "equivalent_identifiers": ["MONDO:0013337", "DOID:0070157", "OMIM:613640", "UMLS:C3150896", "SNOMEDCT:860814001", "medgen:462246"], "information_content": 100.0}
{"id": "NCBIGene:26610", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELP4", "equivalent_identifiers": ["NCBIGene:26610", "ENSEMBL:ENSG00000109911", "HGNC:1171", "OMIM:606985", "UMLS:C1412870", "UniProtKB:G5E9D4", "ENSEMBL:ENSP00000379267", "ENSEMBL:ENSP00000379267.2", "UMLS:C1310503", "MESH:C456976", "UniProtKB:Q96EB1", "PR:Q96EB1"]}
{"id": "UniProtKB:O95870-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylserine lipase ABHD16A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95870-1", "PR:O95870-1", "ENSEMBL:ENSP00000379282", "ENSEMBL:ENSP00000379282.3", "ENSEMBL:ENSP00000395665", "ENSEMBL:ENSP00000395665.2"], "information_content": 100.0}
{"id": "UniProtKB:P63104-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "14-3-3 protein zeta/delta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P63104-1", "PR:P63104-1", "ENSEMBL:ENSP00000309503", "ENSEMBL:ENSP00000309503.3", "ENSEMBL:ENSP00000379281", "ENSEMBL:ENSP00000379281.3", "ENSEMBL:ENSP00000379283", "ENSEMBL:ENSP00000379283.2", "ENSEMBL:ENSP00000379286", "ENSEMBL:ENSP00000379286.3", "ENSEMBL:ENSP00000379287", "ENSEMBL:ENSP00000379287.2", "ENSEMBL:ENSP00000379288", "ENSEMBL:ENSP00000379288.2", "ENSEMBL:ENSP00000395114", "ENSEMBL:ENSP00000395114.2", "ENSEMBL:ENSP00000398599", "ENSEMBL:ENSP00000398599.1"], "information_content": 100.0}
{"id": "UniProtKB:O75363-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "breast carcinoma-amplified sequence 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75363-1", "PR:O75363-1", "ENSEMBL:ENSP00000379290", "ENSEMBL:ENSP00000379290.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUF8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cotranscriptional regulator ARB2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUF8-1", "PR:Q8WUF8-1", "ENSEMBL:ENSP00000379294", "ENSEMBL:ENSP00000379294.3"], "information_content": 100.0}
{"id": "UniProtKB:F8W8F9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F8W8F9_HUMAN Dynein axonemal intermediate chain 7 (trembl)", "equivalent_identifiers": ["UniProtKB:F8W8F9", "ENSEMBL:ENSP00000379310", "ENSEMBL:ENSP00000379310.3"]}
{"id": "MONDO:0003422", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung adenoma", "equivalent_identifiers": ["MONDO:0003422", "DOID:5386", "UMLS:C0345964", "NCIT:C4455", "SNOMEDCT:254642004", "medgen:83394"], "information_content": 86.3}
{"id": "UniProtKB:Q1EHB4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium-coupled monocarboxylate transporter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q1EHB4-1", "PR:Q1EHB4-1", "ENSEMBL:ENSP00000379326", "ENSEMBL:ENSP00000379326.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13469-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor of activated T-cells, cytoplasmic 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13469-1", "PR:Q13469-1", "ENSEMBL:ENSP00000379330", "ENSEMBL:ENSP00000379330.3"], "information_content": 100.0}
{"id": "UniProtKB:P62273-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ribosomal subunit protein uS14 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P62273-2", "PR:P62273-2", "ENSEMBL:ENSP00000379339", "ENSEMBL:ENSP00000379339.3"], "information_content": 100.0}
{"id": "UniProtKB:P05556-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin beta-1 isoform beta-1A (human)", "equivalent_identifiers": ["UniProtKB:P05556-1", "PR:P05556-1", "ENSEMBL:ENSP00000303351", "ENSEMBL:ENSP00000303351.3", "ENSEMBL:ENSP00000379350", "ENSEMBL:ENSP00000379350.2", "ENSEMBL:ENSP00000398029", "ENSEMBL:ENSP00000398029.2", "ENSEMBL:ENSP00000404546", "ENSEMBL:ENSP00000404546.3", "ENSEMBL:ENSP00000502882", "ENSEMBL:ENSP00000502882.1", "ENSEMBL:ENSP00000503546", "ENSEMBL:ENSP00000503546.1", "ENSEMBL:ENSP00000503916", "ENSEMBL:ENSP00000503916.1", "ENSEMBL:ENSP00000504205", "ENSEMBL:ENSP00000504205.1", "ENSEMBL:ENSP00000504444", "ENSEMBL:ENSP00000504444.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92185-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-N-acetylneuraminide alpha-2,8-sialyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92185-1", "PR:Q92185-1", "ENSEMBL:ENSP00000379353", "ENSEMBL:ENSP00000379353.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H8S9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MOB kinase activator 1A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8S9-1", "PR:Q9H8S9-1", "ENSEMBL:ENSP00000379364", "ENSEMBL:ENSP00000379364.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAV5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 27 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAV5-2", "PR:Q9HAV5-2", "ENSEMBL:ENSP00000253392", "ENSEMBL:ENSP00000253392.5", "ENSEMBL:ENSP00000379365", "ENSEMBL:ENSP00000379365.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7L9L4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MOB kinase activator 1B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7L9L4-2", "PR:Q7L9L4-2", "ENSEMBL:ENSP00000379366", "ENSEMBL:ENSP00000379366.2"], "information_content": 100.0}
{"id": "NCBIGene:27023", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXB1", "equivalent_identifiers": ["NCBIGene:27023", "ENSEMBL:ENSG00000171956", "HGNC:3799", "OMIM:619961", "UMLS:C1414667", "UniProtKB:Q99853", "PR:Q99853", "ENSEMBL:ENSP00000379369", "ENSEMBL:ENSP00000379369.4", "UMLS:C0537510", "MESH:C105235"], "information_content": 95.4}
{"id": "NCBIGene:9245", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GCNT3", "equivalent_identifiers": ["NCBIGene:9245", "ENSEMBL:ENSG00000140297", "HGNC:4205", "OMIM:606836", "UMLS:C1415023", "UniProtKB:O95395", "PR:O95395", "ENSEMBL:ENSP00000379377", "ENSEMBL:ENSP00000379377.1", "ENSEMBL:ENSP00000452741", "ENSEMBL:ENSP00000452741.1", "UMLS:C2350736"], "information_content": 100.0}
{"id": "NCBIGene:10117", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ENAM", "equivalent_identifiers": ["NCBIGene:10117", "ENSEMBL:ENSG00000132464", "HGNC:3344", "OMIM:606585", "UMLS:C1414397", "UniProtKB:Q9NRM1", "PR:Q9NRM1", "ENSEMBL:ENSP00000379383", "ENSEMBL:ENSP00000379383.4", "UMLS:C2935053", "MESH:C550525"], "information_content": 90.9}
{"id": "NCBIGene:353274", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF445", "equivalent_identifiers": ["NCBIGene:353274", "ENSEMBL:ENSG00000185219", "HGNC:21018", "OMIM:619508", "UMLS:C1427246", "UniProtKB:B7ZKX2", "UniProtKB:P59923", "PR:P59923", "ENSEMBL:ENSP00000379387", "ENSEMBL:ENSP00000379387.2", "ENSEMBL:ENSP00000413073", "ENSEMBL:ENSP00000413073.2"], "information_content": 92.8}
{"id": "NCBIGene:55623", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THUMPD1", "equivalent_identifiers": ["NCBIGene:55623", "ENSEMBL:ENSG00000066654", "HGNC:23807", "OMIM:616662", "UMLS:C1539961", "UniProtKB:Q9NXG2", "PR:Q9NXG2", "ENSEMBL:ENSP00000370741", "ENSEMBL:ENSP00000370741.2", "ENSEMBL:ENSP00000379392", "ENSEMBL:ENSP00000379392.2", "ENSEMBL:ENSP00000490841", "ENSEMBL:ENSP00000490841.1"], "information_content": 90.9}
{"id": "UniProtKB:Q8IVL1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuron navigator 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVL1-1", "PR:Q8IVL1-1", "ENSEMBL:ENSP00000379396", "ENSEMBL:ENSP00000379396.3"], "information_content": 100.0}
{"id": "NCBIGene:54959", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ODAM", "equivalent_identifiers": ["NCBIGene:54959", "ENSEMBL:ENSG00000109205", "HGNC:26043", "OMIM:614843", "UMLS:C1826507", "UniProtKB:A1E959", "PR:A1E959", "ENSEMBL:ENSP00000379401", "ENSEMBL:ENSP00000379401.2", "ENSEMBL:ENSP00000507531", "ENSEMBL:ENSP00000507531.1", "UMLS:C1433208", "MESH:C480049"], "information_content": 95.4}
{"id": "UniProtKB:Q330K2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q330K2-1", "PR:Q330K2-1", "ENSEMBL:ENSP00000379430", "ENSEMBL:ENSP00000379430.4"], "information_content": 100.0}
{"id": "UniProtKB:P07911-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uromodulin isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P07911-5", "PR:P07911-5", "ENSEMBL:ENSP00000379438", "ENSEMBL:ENSP00000379438.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9B5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "junction-mediating and -regulatory protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9B5-1", "PR:Q8N9B5-1", "ENSEMBL:ENSP00000379441", "ENSEMBL:ENSP00000379441.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNN5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FAS-associated factor 1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9UNN5-1", "PR:Q9UNN5-1", "ENSEMBL:ENSP00000379457", "ENSEMBL:ENSP00000379457.2"], "information_content": 100.0}
{"id": "NCBIGene:885", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCK", "equivalent_identifiers": ["NCBIGene:885", "ENSEMBL:ENSG00000187094", "HGNC:1569", "OMIM:118440", "UMLS:C1413167", "UniProtKB:P06307", "PR:P06307", "ENSEMBL:ENSP00000335657", "ENSEMBL:ENSP00000335657.5", "ENSEMBL:ENSP00000379472", "ENSEMBL:ENSP00000379472.2", "ENSEMBL:ENSP00000409124", "ENSEMBL:ENSP00000409124.1", "UMLS:C4520829", "UniProtKB:Q6FG82"], "information_content": 92.8}
{"id": "NCBIGene:5137", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDE1C", "equivalent_identifiers": ["NCBIGene:5137", "ENSEMBL:ENSG00000154678", "HGNC:8776", "OMIM:602987", "UMLS:C1418416", "UniProtKB:A0A0A0MS69", "ENSEMBL:ENSP00000379496", "ENSEMBL:ENSP00000379496.1", "UMLS:C1452113", "MESH:C517272", "UniProtKB:Q14123", "PR:Q14123"]}
{"id": "UniProtKB:Q8IX04-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 variant 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IX04-1", "PR:Q8IX04-1", "ENSEMBL:ENSP00000379500", "ENSEMBL:ENSP00000379500.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9P0J1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "[pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0J1-2", "PR:Q9P0J1-2", "ENSEMBL:ENSP00000379503", "ENSEMBL:ENSP00000379503.3"], "information_content": 100.0}
{"id": "NCBIGene:9045", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL14", "equivalent_identifiers": ["NCBIGene:9045", "ENSEMBL:ENSG00000188846", "HGNC:10305", "OMIM:617414", "UMLS:C1419631", "UniProtKB:P50914", "PR:P50914", "ENSEMBL:ENSP00000345156", "ENSEMBL:ENSP00000345156.6", "ENSEMBL:ENSP00000379506", "ENSEMBL:ENSP00000379506.2", "UMLS:C1505216"], "information_content": 88.2}
{"id": "UniProtKB:P10620-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microsomal glutathione S-transferase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P10620-1", "PR:P10620-1", "ENSEMBL:ENSP00000010404", "ENSEMBL:ENSP00000010404.2", "ENSEMBL:ENSP00000379510", "ENSEMBL:ENSP00000379510.1", "ENSEMBL:ENSP00000379512", "ENSEMBL:ENSP00000379512.1", "ENSEMBL:ENSP00000379513", "ENSEMBL:ENSP00000379513.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXY8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane channel-like protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXY8-1", "PR:Q6UXY8-1", "ENSEMBL:ENSP00000379531", "ENSEMBL:ENSP00000379531.2", "ENSEMBL:ENSP00000446274", "ENSEMBL:ENSP00000446274.2"], "information_content": 100.0}
{"id": "MONDO:0011582", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 1", "equivalent_identifiers": ["MONDO:0011582", "DOID:0080133", "OMIM:605711", "orphanet:401869", "UMLS:C3276432", "SNOMEDCT:1208485009", "medgen:478062"], "information_content": 100.0}
{"id": "UniProtKB:P30536-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "translocator protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P30536-1", "PR:P30536-1", "ENSEMBL:ENSP00000328973", "ENSEMBL:ENSP00000328973.4", "ENSEMBL:ENSP00000338004", "ENSEMBL:ENSP00000338004.3", "ENSEMBL:ENSP00000379563", "ENSEMBL:ENSP00000379563.4"], "information_content": 95.4}
{"id": "UniProtKB:Q8TD31-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil alpha-helical rod protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TD31-2", "PR:Q8TD31-2", "ENSEMBL:ENSP00000379566", "ENSEMBL:ENSP00000379566.3", "ENSEMBL:ENSP00000383263", "ENSEMBL:ENSP00000383263.3"], "information_content": 100.0}
{"id": "NCBIGene:117195", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRGPRX3", "equivalent_identifiers": ["NCBIGene:117195", "ENSEMBL:ENSG00000179826", "HGNC:17980", "OMIM:607229", "UMLS:C1826281", "UniProtKB:Q96LB0", "PR:Q96LB0", "ENSEMBL:ENSP00000379571", "ENSEMBL:ENSP00000379571.2", "ENSEMBL:ENSP00000481943", "ENSEMBL:ENSP00000481943.1", "UMLS:C1569902", "MESH:C501064"], "information_content": 100.0}
{"id": "UniProtKB:P51159-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-27A isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P51159-1", "PR:P51159-1", "ENSEMBL:ENSP00000337761", "ENSEMBL:ENSP00000337761.1", "ENSEMBL:ENSP00000379601", "ENSEMBL:ENSP00000379601.2", "ENSEMBL:ENSP00000455012", "ENSEMBL:ENSP00000455012.1", "ENSEMBL:ENSP00000456059", "ENSEMBL:ENSP00000456059.1", "ENSEMBL:ENSP00000513368", "ENSEMBL:ENSP00000513368.1", "ENSEMBL:ENSP00000513369", "ENSEMBL:ENSP00000513369.1"], "information_content": 100.0}
{"id": "UniProtKB:P23763-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vesicle-associated membrane protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P23763-1", "PR:P23763-1", "ENSEMBL:ENSP00000379602", "ENSEMBL:ENSP00000379602.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86VP1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Tax1-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VP1-1", "PR:Q86VP1-1", "ENSEMBL:ENSP00000379612", "ENSEMBL:ENSP00000379612.2"], "information_content": 100.0}
{"id": "UniProtKB:P35749-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin-11 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P35749-2", "PR:P35749-2", "ENSEMBL:ENSP00000379616", "ENSEMBL:ENSP00000379616.3", "ENSEMBL:ENSP00000478109", "ENSEMBL:ENSP00000478109.1"], "information_content": 100.0}
{"id": "NCBIGene:256764", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR72", "equivalent_identifiers": ["NCBIGene:256764", "ENSEMBL:ENSG00000166415", "HGNC:26790", "OMIM:613214", "UMLS:C1823836", "UniProtKB:A0A087WTC3", "ENSEMBL:ENSP00000477754", "ENSEMBL:ENSP00000477754.1", "UMLS:C2741756", "MESH:C545712", "UniProtKB:Q3MJ13", "PR:Q3MJ13", "ENSEMBL:ENSP00000353699", "ENSEMBL:ENSP00000353699.5", "ENSEMBL:ENSP00000379619", "ENSEMBL:ENSP00000379619.1"], "information_content": 100.0}
{"id": "UniProtKB:P57768-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-16 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P57768-1", "PR:P57768-1", "ENSEMBL:ENSP00000322652", "ENSEMBL:ENSP00000322652.4", "ENSEMBL:ENSP00000379621", "ENSEMBL:ENSP00000379621.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXR1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear distribution protein nudE homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXR1-2", "PR:Q9NXR1-2", "ENSEMBL:ENSP00000379642", "ENSEMBL:ENSP00000379642.1", "ENSEMBL:ENSP00000379643", "ENSEMBL:ENSP00000379643.1", "ENSEMBL:ENSP00000488050", "ENSEMBL:ENSP00000488050.1", "ENSEMBL:ENSP00000488199", "ENSEMBL:ENSP00000488199.1", "ENSEMBL:ENSP00000501936", "ENSEMBL:ENSP00000501936.1", "ENSEMBL:ENSP00000502160", "ENSEMBL:ENSP00000502160.1", "ENSEMBL:ENSP00000502354", "ENSEMBL:ENSP00000502354.1", "ENSEMBL:ENSP00000502635", "ENSEMBL:ENSP00000502635.1"], "information_content": 100.0}
{"id": "UniProtKB:P35712-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor SOX-6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P35712-3", "PR:P35712-3", "ENSEMBL:ENSP00000324948", "ENSEMBL:ENSP00000324948.6", "ENSEMBL:ENSP00000379644", "ENSEMBL:ENSP00000379644.3"], "information_content": 100.0}
{"id": "NCBIGene:79168", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LILRA6", "equivalent_identifiers": ["NCBIGene:79168", "ENSEMBL:ENSG00000244482", "HGNC:15495", "UMLS:C1825814", "UniProtKB:Q6PI73", "PR:Q6PI73", "ENSEMBL:ENSP00000379651", "ENSEMBL:ENSP00000379651.2", "ENSEMBL:ENSP00000412929", "ENSEMBL:ENSP00000412929.1", "UniProtKB:U5XH19", "UMLS:C3849419", "MESH:C586909", "UniProtKB:U5XHD7", "UniProtKB:U5XJZ2", "ENSEMBL:ENSP00000481288", "ENSEMBL:ENSP00000481288.1"], "information_content": 90.9}
{"id": "UniProtKB:Q9Y4F3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "meiosis regulator and mRNA stability factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4F3-1", "PR:Q9Y4F3-1", "ENSEMBL:ENSP00000379654", "ENSEMBL:ENSP00000379654.3", "ENSEMBL:ENSP00000479383", "ENSEMBL:ENSP00000479383.1"], "information_content": 100.0}
{"id": "NCBIGene:2120", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ETV6", "equivalent_identifiers": ["NCBIGene:2120", "ENSEMBL:ENSG00000139083", "HGNC:3495", "OMIM:600618", "UMLS:C0796520", "UniProtKB:A0A0S2Z3C9", "UniProtKB:A0A0S2Z3N6", "UniProtKB:P41212", "PR:P41212", "ENSEMBL:ENSP00000379658", "ENSEMBL:ENSP00000379658.3", "UMLS:C1568122", "MESH:C000727988"], "information_content": 95.4}
{"id": "UniProtKB:Q2QL34-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Mpv17-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2QL34-1", "PR:Q2QL34-1", "ENSEMBL:ENSP00000379669", "ENSEMBL:ENSP00000379669.3", "ENSEMBL:ENSP00000484675", "ENSEMBL:ENSP00000484675.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15124-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoglucomutase-like protein 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15124-1", "PR:Q15124-1", "ENSEMBL:ENSP00000379678", "ENSEMBL:ENSP00000379678.1"], "information_content": 100.0}
{"id": "NCBIGene:4668", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAGA", "equivalent_identifiers": ["NCBIGene:4668", "ENSEMBL:ENSG00000198951", "HGNC:7631", "OMIM:104170", "UMLS:C1417592", "UniProtKB:P17050", "PR:P17050", "ENSEMBL:ENSP00000379680", "ENSEMBL:ENSP00000379680.3", "ENSEMBL:ENSP00000384603", "ENSEMBL:ENSP00000384603.1", "ENSEMBL:ENSP00000385283", "ENSEMBL:ENSP00000385283.1", "UMLS:C1435982", "MESH:C482722"], "information_content": 68.9}
{"id": "UniProtKB:P02810", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PRPC_HUMAN Salivary acidic proline-rich phosphoprotein 1/2 (sprot)", "equivalent_identifiers": ["UniProtKB:P02810", "PR:P02810", "ENSEMBL:ENSP00000371271", "ENSEMBL:ENSP00000371271.3", "ENSEMBL:ENSP00000379682", "ENSEMBL:ENSP00000379682.3", "ENSEMBL:ENSP00000458690", "ENSEMBL:ENSP00000458690.1", "ENSEMBL:ENSP00000461041", "ENSEMBL:ENSP00000461041.1", "ENSEMBL:ENSP00000481810", "ENSEMBL:ENSP00000481810.1", "ENSEMBL:ENSP00000483458", "ENSEMBL:ENSP00000483458.1"], "information_content": 90.9}
{"id": "UniProtKB:P11511-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aromatase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P11511-1", "PR:P11511-1", "ENSEMBL:ENSP00000379683", "ENSEMBL:ENSP00000379683.1", "ENSEMBL:ENSP00000379685", "ENSEMBL:ENSP00000379685.4", "ENSEMBL:ENSP00000453149", "ENSEMBL:ENSP00000453149.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7L2R6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 765 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L2R6-1", "PR:Q7L2R6-1", "ENSEMBL:ENSP00000379689", "ENSEMBL:ENSP00000379689.3"], "information_content": 100.0}
{"id": "MONDO:0001831", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "irregular astigmatism", "equivalent_identifiers": ["MONDO:0001831", "DOID:13919", "UMLS:C0152194", "MEDDRA:10022990", "SNOMEDCT:47099006", "medgen:508922", "icd11.foundation:1086387343", "ICD10:H52.21", "ICD9:367.22", "HP:0031792"], "information_content": 100.0}
{"id": "UniProtKB:Q6P996-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyridoxal-dependent decarboxylase domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P996-1", "PR:Q6P996-1", "ENSEMBL:ENSP00000379691", "ENSEMBL:ENSP00000379691.4", "ENSEMBL:ENSP00000484595", "ENSEMBL:ENSP00000484595.1"], "information_content": 100.0}
{"id": "NCBIGene:5569", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PKIA", "equivalent_identifiers": ["NCBIGene:5569", "ENSEMBL:ENSG00000171033", "HGNC:9017", "OMIM:606059", "UMLS:C1418606", "UniProtKB:P61925", "PR:P61925", "ENSEMBL:ENSP00000336552", "ENSEMBL:ENSP00000336552.5", "ENSEMBL:ENSP00000379696", "ENSEMBL:ENSP00000379696.2", "ENSEMBL:ENSP00000430887", "ENSEMBL:ENSP00000430887.1", "UMLS:C1452330", "MESH:C491526"], "information_content": 95.4}
{"id": "NCBIGene:79788", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF665", "equivalent_identifiers": ["NCBIGene:79788", "ENSEMBL:ENSG00000197497", "HGNC:25885", "UMLS:C1538230", "UniProtKB:A0A3Q5AD24", "ENSEMBL:ENSP00000469154", "ENSEMBL:ENSP00000469154.1", "UniProtKB:Q9H7R5", "PR:Q9H7R5", "ENSEMBL:ENSP00000379702", "ENSEMBL:ENSP00000379702.2", "ENSEMBL:ENSP00000498600", "ENSEMBL:ENSP00000498600.1"], "information_content": 100.0}
{"id": "MONDO:0010173", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Mayer-Rokitansky-Kuster-Hauser syndrome type 1", "equivalent_identifiers": ["MONDO:0010173", "DOID:0112178", "OMIM:277000", "orphanet:247775", "UMLS:C5566555", "SNOMEDCT:1162832007", "medgen:1797978"], "information_content": 100.0}
{"id": "UniProtKB:Q5T5U3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 21 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T5U3-1", "PR:Q5T5U3-1", "ENSEMBL:ENSP00000379709", "ENSEMBL:ENSP00000379709.2"], "information_content": 100.0}
{"id": "UniProtKB:P40818-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P40818-1", "PR:P40818-1", "ENSEMBL:ENSP00000302239", "ENSEMBL:ENSP00000302239.4", "ENSEMBL:ENSP00000379721", "ENSEMBL:ENSP00000379721.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y573-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin-binding protein IPP isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y573-1", "PR:Q9Y573-1", "ENSEMBL:ENSP00000379739", "ENSEMBL:ENSP00000379739.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86Z20-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 125 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86Z20-1", "PR:Q86Z20-1", "ENSEMBL:ENSP00000379754", "ENSEMBL:ENSP00000379754.2", "ENSEMBL:ENSP00000379756", "ENSEMBL:ENSP00000379756.1", "ENSEMBL:ENSP00000479651", "ENSEMBL:ENSP00000479651.1", "ENSEMBL:ENSP00000481190", "ENSEMBL:ENSP00000481190.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWR0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger CCCH domain-containing protein 7A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWR0-1", "PR:Q8IWR0-1", "ENSEMBL:ENSP00000347999", "ENSEMBL:ENSP00000347999.4", "ENSEMBL:ENSP00000379773", "ENSEMBL:ENSP00000379773.2"], "information_content": 100.0}
{"id": "NCBIGene:170712", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX7B2", "equivalent_identifiers": ["NCBIGene:170712", "ENSEMBL:ENSG00000170516", "HGNC:24381", "OMIM:609811", "UMLS:C1539132", "UniProtKB:Q8TF08", "PR:Q8TF08", "ENSEMBL:ENSP00000347799", "ENSEMBL:ENSP00000347799.3", "ENSEMBL:ENSP00000379784", "ENSEMBL:ENSP00000379784.1"], "information_content": 95.4}
{"id": "MONDO:0008195", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paramyotonia congenita of Von Eulenburg", "equivalent_identifiers": ["MONDO:0008195", "DOID:0111538", "OMIM:168300", "orphanet:684", "UMLS:C0221055", "UMLS:C1868619", "MEDDRA:10088318", "NCIT:C122790", "NCIT:C122794", "SNOMEDCT:41574007", "medgen:113142", "icd11.foundation:1740060527", "ICD10:G71.19"], "information_content": 95.4}
{"id": "UniProtKB:Q01432-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AMP deaminase 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q01432-4", "PR:Q01432-4", "ENSEMBL:ENSP00000379802", "ENSEMBL:ENSP00000379802.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXB5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxysterol-binding protein-related protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXB5-1", "PR:Q9BXB5-1", "ENSEMBL:ENSP00000379804", "ENSEMBL:ENSP00000379804.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5U623-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "activating transcription factor 7-interacting protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5U623-1", "PR:Q5U623-1", "ENSEMBL:ENSP00000348799", "ENSEMBL:ENSP00000348799.2", "ENSEMBL:ENSP00000379808", "ENSEMBL:ENSP00000379808.2", "ENSEMBL:ENSP00000457731", "ENSEMBL:ENSP00000457731.2"], "information_content": 100.0}
{"id": "UniProtKB:Q01955-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-3(IV) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01955-1", "PR:Q01955-1", "ENSEMBL:ENSP00000379823", "ENSEMBL:ENSP00000379823.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAD4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proton-coupled zinc antiporter SLC30A5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAD4-1", "PR:Q8TAD4-1", "ENSEMBL:ENSP00000379836", "ENSEMBL:ENSP00000379836.3"], "information_content": 100.0}
{"id": "NCBIGene:23589", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CARHSP1", "equivalent_identifiers": ["NCBIGene:23589", "ENSEMBL:ENSG00000153048", "HGNC:17150", "OMIM:616885", "UMLS:C1424780", "UniProtKB:Q9Y2V2", "PR:Q9Y2V2", "ENSEMBL:ENSP00000311847", "ENSEMBL:ENSP00000311847.4", "ENSEMBL:ENSP00000379838", "ENSEMBL:ENSP00000379838.2", "ENSEMBL:ENSP00000455284", "ENSEMBL:ENSP00000455284.1", "ENSEMBL:ENSP00000455855", "ENSEMBL:ENSP00000455855.1", "ENSEMBL:ENSP00000478055", "ENSEMBL:ENSP00000478055.1", "ENSEMBL:ENSP00000480144", "ENSEMBL:ENSP00000480144.1", "ENSEMBL:ENSP00000480542", "ENSEMBL:ENSP00000480542.1", "ENSEMBL:ENSP00000481550", "ENSEMBL:ENSP00000481550.1", "ENSEMBL:ENSP00000483591", "ENSEMBL:ENSP00000483591.1", "UMLS:C1439264", "MESH:C114342"], "information_content": 89.4}
{"id": "UniProtKB:Q9Y223-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y223-2", "PR:Q9Y223-2", "ENSEMBL:ENSP00000379839", "ENSEMBL:ENSP00000379839.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13227-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G protein pathway suppressor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13227-1", "PR:Q13227-1", "ENSEMBL:ENSP00000370104", "ENSEMBL:ENSP00000370104.2", "ENSEMBL:ENSP00000379841", "ENSEMBL:ENSP00000379841.4", "ENSEMBL:ENSP00000500255", "ENSEMBL:ENSP00000500255.1", "ENSEMBL:ENSP00000500677", "ENSEMBL:ENSP00000500677.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96BR1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Sgk3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BR1-1", "PR:Q96BR1-1", "ENSEMBL:ENSP00000331816", "ENSEMBL:ENSP00000331816.5", "ENSEMBL:ENSP00000379842", "ENSEMBL:ENSP00000379842.1", "ENSEMBL:ENSP00000430256", "ENSEMBL:ENSP00000430256.1", "ENSEMBL:ENSP00000430463", "ENSEMBL:ENSP00000430463.1"], "information_content": 100.0}
{"id": "NCBIGene:18", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABAT", "equivalent_identifiers": ["NCBIGene:18", "ENSEMBL:ENSG00000183044", "HGNC:23", "OMIM:137150", "UMLS:C1412057", "UniProtKB:H3BNQ7", "ENSEMBL:ENSP00000454963", "ENSEMBL:ENSP00000454963.1", "UniProtKB:P80404", "PR:P80404", "ENSEMBL:ENSP00000268251", "ENSEMBL:ENSP00000268251.8", "ENSEMBL:ENSP00000379845", "ENSEMBL:ENSP00000379845.2", "ENSEMBL:ENSP00000411916", "ENSEMBL:ENSP00000411916.2", "UniProtKB:X5D8S1"], "information_content": 90.9}
{"id": "UniProtKB:P52747-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 143 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P52747-1", "PR:P52747-1", "ENSEMBL:ENSP00000379847", "ENSEMBL:ENSP00000379847.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hydroxyacid-oxoacid transhydrogenase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWW8-1", "PR:Q8IWW8-1", "ENSEMBL:ENSP00000379865", "ENSEMBL:ENSP00000379865.3"], "information_content": 100.0}
{"id": "NCBIGene:1286", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL4A4", "equivalent_identifiers": ["NCBIGene:1286", "ENSEMBL:ENSG00000081052", "HGNC:2206", "OMIM:120131", "UMLS:C1413585", "UniProtKB:P53420", "PR:P53420", "ENSEMBL:ENSP00000379866", "ENSEMBL:ENSP00000379866.3", "UMLS:C1144111", "MESH:C466620"], "information_content": 82.1}
{"id": "UniProtKB:Q8TE02-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "elongator complex protein 5 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q8TE02-5", "PR:Q8TE02-5", "ENSEMBL:ENSP00000346412", "ENSEMBL:ENSP00000346412.3", "ENSEMBL:ENSP00000379868", "ENSEMBL:ENSP00000379868.3", "ENSEMBL:ENSP00000379869", "ENSEMBL:ENSP00000379869.3"], "information_content": 100.0}
{"id": "UniProtKB:P04439-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HLA class I histocompatibility antigen, A alpha chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P04439-1", "PR:P04439-1", "ENSEMBL:ENSP00000366005", "ENSEMBL:ENSP00000366005.5", "ENSEMBL:ENSP00000379873", "ENSEMBL:ENSP00000379873.1", "ENSEMBL:ENSP00000516612", "ENSEMBL:ENSP00000516612.1", "ENSEMBL:ENSP00000516614", "ENSEMBL:ENSP00000516614.1", "ENSEMBL:ENSP00000516616", "ENSEMBL:ENSP00000516616.1"], "information_content": 100.0}
{"id": "NCBIGene:116135", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC3B", "equivalent_identifiers": ["NCBIGene:116135", "ENSEMBL:ENSG00000179796", "HGNC:28105", "OMIM:618996", "UMLS:C1537593", "UniProtKB:Q96PB8", "PR:Q96PB8", "ENSEMBL:ENSP00000379880", "ENSEMBL:ENSP00000379880.2", "ENSEMBL:ENSP00000394940", "ENSEMBL:ENSP00000394940.2", "ENSEMBL:ENSP00000406370", "ENSEMBL:ENSP00000406370.1", "ENSEMBL:ENSP00000497471", "ENSEMBL:ENSP00000497471.1", "UMLS:C1312090", "MESH:C477813"], "information_content": 95.4}
{"id": "NCBIGene:6202", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS8", "equivalent_identifiers": ["NCBIGene:6202", "ENSEMBL:ENSG00000142937", "HGNC:10441", "OMIM:600357", "UMLS:C1419752", "UniProtKB:P62241", "PR:P62241", "ENSEMBL:ENSP00000379888", "ENSEMBL:ENSP00000379888.3", "UniProtKB:Q5JR94"], "information_content": 87.2}
{"id": "UniProtKB:Q96PC3-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-1 complex subunit sigma-3 isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:Q96PC3-4", "PR:Q96PC3-4", "ENSEMBL:ENSP00000379891", "ENSEMBL:ENSP00000379891.2"], "information_content": 100.0}
{"id": "UniProtKB:P50440-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycine amidinotransferase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50440-1", "PR:P50440-1", "ENSEMBL:ENSP00000379895", "ENSEMBL:ENSP00000379895.3"], "information_content": 100.0}
{"id": "NCBIGene:54664", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM106B", "equivalent_identifiers": ["NCBIGene:54664", "ENSEMBL:ENSG00000106460", "HGNC:22407", "OMIM:613413", "UMLS:C1823367", "UniProtKB:Q9NUM4", "PR:Q9NUM4", "ENSEMBL:ENSP00000379901", "ENSEMBL:ENSP00000379901.2", "ENSEMBL:ENSP00000379902", "ENSEMBL:ENSP00000379902.3", "ENSEMBL:ENSP00000401302", "ENSEMBL:ENSP00000401302.2", "ENSEMBL:ENSP00000515905", "ENSEMBL:ENSP00000515905.1", "UMLS:C3180334", "MESH:C556915"], "information_content": 89.4}
{"id": "UniProtKB:P10828-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thyroid hormone receptor beta isoform Beta-1 (human)", "equivalent_identifiers": ["UniProtKB:P10828-1", "PR:P10828-1", "ENSEMBL:ENSP00000348827", "ENSEMBL:ENSP00000348827.4", "ENSEMBL:ENSP00000379904", "ENSEMBL:ENSP00000379904.2", "ENSEMBL:ENSP00000414444", "ENSEMBL:ENSP00000414444.1", "ENSEMBL:ENSP00000493709", "ENSEMBL:ENSP00000493709.1", "ENSEMBL:ENSP00000494618", "ENSEMBL:ENSP00000494618.1", "ENSEMBL:ENSP00000496029", "ENSEMBL:ENSP00000496029.1", "ENSEMBL:ENSP00000496509", "ENSEMBL:ENSP00000496509.1", "ENSEMBL:ENSP00000496616", "ENSEMBL:ENSP00000496616.1", "ENSEMBL:ENSP00000496686", "ENSEMBL:ENSP00000496686.2"], "information_content": 100.0}
{"id": "NCBIGene:64105", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CENPK", "equivalent_identifiers": ["NCBIGene:64105", "ENSEMBL:ENSG00000123219", "HGNC:29479", "OMIM:611502", "UMLS:C1824701", "UniProtKB:D6RHD3", "ENSEMBL:ENSP00000421034", "ENSEMBL:ENSP00000421034.1", "UMLS:C1307871", "MESH:C102640", "UniProtKB:D6RJF0", "ENSEMBL:ENSP00000425686", "ENSEMBL:ENSP00000425686.1", "UniProtKB:Q9BS16", "PR:Q9BS16", "ENSEMBL:ENSP00000242872", "ENSEMBL:ENSP00000242872.3", "ENSEMBL:ENSP00000379911", "ENSEMBL:ENSP00000379911.1", "ENSEMBL:ENSP00000422421", "ENSEMBL:ENSP00000422421.1"], "information_content": 95.4}
{"id": "NCBIGene:1822", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATN1", "equivalent_identifiers": ["NCBIGene:1822", "ENSEMBL:ENSG00000111676", "HGNC:3033", "OMIM:607462", "UMLS:C1540211", "UniProtKB:P54259", "PR:P54259", "ENSEMBL:ENSP00000349076", "ENSEMBL:ENSP00000349076.3", "ENSEMBL:ENSP00000379915", "ENSEMBL:ENSP00000379915.2", "UMLS:C1743409", "UniProtKB:Q86V38"], "information_content": 95.4}
{"id": "NCBIGene:7325", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2E2", "equivalent_identifiers": ["NCBIGene:7325", "ENSEMBL:ENSG00000182247", "HGNC:12478", "OMIM:602163", "UMLS:C1421277", "UniProtKB:Q96LR5", "PR:Q96LR5", "ENSEMBL:ENSP00000379931", "ENSEMBL:ENSP00000379931.1", "ENSEMBL:ENSP00000401053", "ENSEMBL:ENSP00000401053.1", "UMLS:C1120612", "MESH:C106347"], "information_content": 95.4}
{"id": "NCBIGene:55146", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZDHHC4", "equivalent_identifiers": ["NCBIGene:55146", "ENSEMBL:ENSG00000136247", "HGNC:18471", "UMLS:C1425536", "UniProtKB:Q9NPG8", "PR:Q9NPG8", "ENSEMBL:ENSP00000337475", "ENSEMBL:ENSP00000337475.6", "ENSEMBL:ENSP00000379934", "ENSEMBL:ENSP00000379934.2", "ENSEMBL:ENSP00000379935", "ENSEMBL:ENSP00000379935.2", "ENSEMBL:ENSP00000379937", "ENSEMBL:ENSP00000379937.1", "ENSEMBL:ENSP00000379941", "ENSEMBL:ENSP00000379941.2", "ENSEMBL:ENSP00000385027", "ENSEMBL:ENSP00000385027.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZM4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BRD4-interacting chromatin-remodeling complex-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZM4-1", "PR:Q9NZM4-1", "ENSEMBL:ENSP00000379946", "ENSEMBL:ENSP00000379946.2", "ENSEMBL:ENSP00000469738", "ENSEMBL:ENSP00000469738.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13418-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "scaffold protein ILK isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13418-1", "PR:Q13418-1", "ENSEMBL:ENSP00000299421", "ENSEMBL:ENSP00000299421.4", "ENSEMBL:ENSP00000379975", "ENSEMBL:ENSP00000379975.2", "ENSEMBL:ENSP00000403487", "ENSEMBL:ENSP00000403487.2"], "information_content": 100.0}
{"id": "UniProtKB:O60830-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial import inner membrane translocase subunit Tim17-B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60830-2", "PR:O60830-2", "ENSEMBL:ENSP00000379999", "ENSEMBL:ENSP00000379999.3", "ENSEMBL:ENSP00000477073", "ENSEMBL:ENSP00000477073.1", "ENSEMBL:ENSP00000518046", "ENSEMBL:ENSP00000518046.1", "ENSEMBL:ENSP00000518048", "ENSEMBL:ENSP00000518048.1"], "information_content": 100.0}
{"id": "MONDO:0011010", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Matthew-Wood syndrome", "equivalent_identifiers": ["MONDO:0011010", "DOID:0111807", "OMIM:601186", "orphanet:2470", "UMLS:C1832661", "MESH:C537768", "SNOMEDCT:722458000", "medgen:318679"], "information_content": 100.0}
{"id": "NCBIGene:1241", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LTB4R", "equivalent_identifiers": ["NCBIGene:1241", "ENSEMBL:ENSG00000213903", "HGNC:6713", "OMIM:601531", "UMLS:C1334350", "UniProtKB:Q15722", "PR:Q15722", "ENSEMBL:ENSP00000307445", "ENSEMBL:ENSP00000307445.3", "ENSEMBL:ENSP00000380002", "ENSEMBL:ENSP00000380002.2", "ENSEMBL:ENSP00000380008", "ENSEMBL:ENSP00000380008.4", "ENSEMBL:ENSP00000494730", "ENSEMBL:ENSP00000494730.1", "ENSEMBL:ENSP00000495466", "ENSEMBL:ENSP00000495466.1", "ENSEMBL:ENSP00000495785", "ENSEMBL:ENSP00000495785.1", "UMLS:C1307920", "MESH:C513240"], "information_content": 95.4}
{"id": "UniProtKB:Q8TF68-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 384 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF68-1", "PR:Q8TF68-1", "ENSEMBL:ENSP00000354592", "ENSEMBL:ENSP00000354592.3", "ENSEMBL:ENSP00000380019", "ENSEMBL:ENSP00000380019.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNL4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inhibitor of growth protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNL4-1", "PR:Q9UNL4-1", "ENSEMBL:ENSP00000380024", "ENSEMBL:ENSP00000380024.4"], "information_content": 100.0}
{"id": "NCBIGene:10521", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX17", "equivalent_identifiers": ["NCBIGene:10521", "ENSEMBL:ENSG00000100201", "HGNC:2740", "OMIM:608469", "UMLS:C1413957", "UniProtKB:A0A5H1ZRQ2", "ENSEMBL:ENSP00000380033", "ENSEMBL:ENSP00000380033.4", "UMLS:C1571640", "MESH:C102004", "UniProtKB:Q59F66", "UniProtKB:Q92841", "PR:Q92841"]}
{"id": "NCBIGene:128486", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FITM2", "equivalent_identifiers": ["NCBIGene:128486", "ENSEMBL:ENSG00000197296", "HGNC:16135", "OMIM:612029", "UMLS:C1424015", "UniProtKB:Q8N6M3", "PR:Q8N6M3", "ENSEMBL:ENSP00000380037", "ENSEMBL:ENSP00000380037.3", "UMLS:C3502229", "MESH:C575964"], "information_content": 95.4}
{"id": "MONDO:0002048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombocytopenia due to immune destruction", "equivalent_identifiers": ["MONDO:0002048", "DOID:1587", "UMLS:C0272286", "MEDDRA:10083567", "NCIT:C3991", "SNOMEDCT:2897005", "medgen:75778"], "information_content": 86.3}
{"id": "NCBIGene:1454", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSNK1E", "equivalent_identifiers": ["NCBIGene:1454", "ENSEMBL:ENSG00000213923", "HGNC:2453", "OMIM:600863", "UMLS:C1413756", "UniProtKB:P49674", "PR:P49674", "ENSEMBL:ENSP00000352929", "ENSEMBL:ENSP00000352929.3", "ENSEMBL:ENSP00000380044", "ENSEMBL:ENSP00000380044.1", "ENSEMBL:ENSP00000384074", "ENSEMBL:ENSP00000384074.1", "UniProtKB:Q5U045"], "information_content": 95.4}
{"id": "UniProtKB:A8MZ59-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paired-like homeodomain transcription factor LEUTX isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:A8MZ59-1", "PR:A8MZ59-1", "ENSEMBL:ENSP00000380053", "ENSEMBL:ENSP00000380053.3", "ENSEMBL:ENSP00000486698", "ENSEMBL:ENSP00000486698.1"], "information_content": 100.0}
{"id": "MONDO:0011014", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pleuropulmonary blastoma", "equivalent_identifiers": ["MONDO:0011014", "DOID:4769", "OMIM:601200", "orphanet:64742", "EFO:0009052", "MESH:C537516", "NCIT:C5669", "medgen:266105"], "information_content": 89.4}
{"id": "UniProtKB:Q96JC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ELL-associated factor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JC9-1", "PR:Q96JC9-1", "ENSEMBL:ENSP00000380054", "ENSEMBL:ENSP00000380054.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NX65-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and SCAN domain-containing protein 32 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NX65-1", "PR:Q9NX65-1", "ENSEMBL:ENSP00000380061", "ENSEMBL:ENSP00000380061.4"], "information_content": 100.0}
{"id": "UniProtKB:P04406-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glyceraldehyde-3-phosphate dehydrogenase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P04406-1", "PR:P04406-1", "ENSEMBL:ENSP00000229239", "ENSEMBL:ENSP00000229239.5", "ENSEMBL:ENSP00000380068", "ENSEMBL:ENSP00000380068.1", "ENSEMBL:ENSP00000380070", "ENSEMBL:ENSP00000380070.1"], "information_content": 100.0}
{"id": "NCBIGene:10379", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IRF9", "equivalent_identifiers": ["NCBIGene:10379", "ENSEMBL:ENSG00000213928", "HGNC:6131", "OMIM:147574", "UMLS:C1416479", "UniProtKB:A0A8V8TMJ8", "ENSEMBL:ENSP00000514071", "ENSEMBL:ENSP00000514071.1", "UniProtKB:A0A8V8TP83", "ENSEMBL:ENSP00000514183", "ENSEMBL:ENSP00000514183.1", "UniProtKB:H0YNP4", "ENSEMBL:ENSP00000454095", "ENSEMBL:ENSP00000454095.2", "UniProtKB:Q00978", "PR:Q00978", "ENSEMBL:ENSP00000380073", "ENSEMBL:ENSP00000380073.3", "ENSEMBL:ENSP00000494792", "ENSEMBL:ENSP00000494792.1", "ENSEMBL:ENSP00000514112", "ENSEMBL:ENSP00000514112.1", "UMLS:C1506531", "MESH:C494227"], "information_content": 89.4}
{"id": "UniProtKB:Q8NBW4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neutral amino acid transporter 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBW4-1", "PR:Q8NBW4-1", "ENSEMBL:ENSP00000316596", "ENSEMBL:ENSP00000316596.3", "ENSEMBL:ENSP00000380074", "ENSEMBL:ENSP00000380074.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7RTT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "equilibrative nucleoside transporter 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTT9-1", "PR:Q7RTT9-1", "ENSEMBL:ENSP00000297195", "ENSEMBL:ENSP00000297195.4", "ENSEMBL:ENSP00000380081", "ENSEMBL:ENSP00000380081.2"], "information_content": 100.0}
{"id": "UniProtKB:O14771-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 213 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14771-1", "PR:O14771-1", "ENSEMBL:ENSP00000380087", "ENSEMBL:ENSP00000380087.3", "ENSEMBL:ENSP00000459177", "ENSEMBL:ENSP00000459177.1", "ENSEMBL:ENSP00000460157", "ENSEMBL:ENSP00000460157.1"], "information_content": 100.0}
{"id": "MONDO:0012536", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 7", "equivalent_identifiers": ["MONDO:0012536", "DOID:0110337", "OMIM:610682", "UMLS:C0432250", "UMLS:C1853162", "MESH:C536043", "MESH:C565200", "SNOMEDCT:254111008", "medgen:343981"], "information_content": 100.0}
{"id": "UniProtKB:P56693-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor SOX-10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P56693-1", "PR:P56693-1", "ENSEMBL:ENSP00000354130", "ENSEMBL:ENSP00000354130.2", "ENSEMBL:ENSP00000380093", "ENSEMBL:ENSP00000380093.2"], "information_content": 100.0}
{"id": "NCBIGene:100533952", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBAK-RBAKDN", "equivalent_identifiers": ["NCBIGene:100533952", "ENSEMBL:ENSG00000272968", "HGNC:42971", "UMLS:C3813827", "UniProtKB:A0A0A6YYG8", "ENSEMBL:ENSP00000380112"]}
{"id": "UniProtKB:Q2NL68-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline and serine-rich protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2NL68-1", "PR:Q2NL68-1", "ENSEMBL:ENSP00000380116", "ENSEMBL:ENSP00000380116.5"], "information_content": 100.0}
{"id": "NCBIGene:9074", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN6", "equivalent_identifiers": ["NCBIGene:9074", "ENSEMBL:ENSG00000184697", "HGNC:2048", "OMIM:615798", "UMLS:C1413476", "UniProtKB:P56747", "PR:P56747", "ENSEMBL:ENSP00000328674", "ENSEMBL:ENSP00000328674.4", "ENSEMBL:ENSP00000380131", "ENSEMBL:ENSP00000380131.1", "UMLS:C1570897"], "information_content": 100.0}
{"id": "NCBIGene:84433", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CARD11", "equivalent_identifiers": ["NCBIGene:84433", "ENSEMBL:ENSG00000198286", "HGNC:16393", "OMIM:607210", "UMLS:C1424244", "UniProtKB:Q9BXL7", "PR:Q9BXL7", "ENSEMBL:ENSP00000380150", "ENSEMBL:ENSP00000380150.4", "UMLS:C1948055"], "information_content": 86.3}
{"id": "NCBIGene:81285", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR51E2", "equivalent_identifiers": ["NCBIGene:81285", "ENSEMBL:ENSG00000167332", "HGNC:15195", "OMIM:611268", "UMLS:C1423286", "UniProtKB:A0A126GVK0", "UniProtKB:Q9H255", "PR:Q9H255", "ENSEMBL:ENSP00000380153", "ENSEMBL:ENSP00000380153.3", "ENSEMBL:ENSP00000493442", "ENSEMBL:ENSP00000493442.1", "UMLS:C1447835", "MESH:C417566"], "information_content": 100.0}
{"id": "NCBIGene:143503", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR51E1", "equivalent_identifiers": ["NCBIGene:143503", "ENSEMBL:ENSG00000180785", "HGNC:15194", "OMIM:611267", "UMLS:C1538551", "UniProtKB:A0A126GVF8", "UMLS:C1722196", "MESH:C510734", "UniProtKB:Q8TCB6", "PR:Q8TCB6", "ENSEMBL:ENSP00000380155", "ENSEMBL:ENSP00000380155.5"], "information_content": 95.4}
{"id": "NCBIGene:4338", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MOCS2", "equivalent_identifiers": ["NCBIGene:4338", "ENSEMBL:ENSG00000164172", "HGNC:7193", "OMIM:603708", "UMLS:C1417227", "UniProtKB:O96007", "PR:O96007", "ENSEMBL:ENSP00000380157", "ENSEMBL:ENSP00000380157.3", "UMLS:C1448804", "UniProtKB:O96033", "PR:O96033", "ENSEMBL:ENSP00000355160", "ENSEMBL:ENSP00000355160.4", "ENSEMBL:ENSP00000411022", "ENSEMBL:ENSP00000411022.3", "ENSEMBL:ENSP00000424267", "ENSEMBL:ENSP00000424267.2", "ENSEMBL:ENSP00000426274", "ENSEMBL:ENSP00000426274.1", "ENSEMBL:ENSP00000462870", "ENSEMBL:ENSP00000462870.1", "ENSEMBL:ENSP00000464663", "ENSEMBL:ENSP00000464663.1"], "information_content": 95.4}
{"id": "NCBIGene:114984", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FLYWCH2", "equivalent_identifiers": ["NCBIGene:114984", "ENSEMBL:ENSG00000162076", "HGNC:25178", "UMLS:C2239456", "UniProtKB:Q96CP2", "PR:Q96CP2", "ENSEMBL:ENSP00000293981", "ENSEMBL:ENSP00000293981.6", "ENSEMBL:ENSP00000380159", "ENSEMBL:ENSP00000380159.3"], "information_content": 95.4}
{"id": "UniProtKB:P17025-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 182 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P17025-1", "PR:P17025-1", "ENSEMBL:ENSP00000380165", "ENSEMBL:ENSP00000380165.1"], "information_content": 100.0}
{"id": "NCBIGene:7326", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2G1", "equivalent_identifiers": ["NCBIGene:7326", "ENSEMBL:ENSG00000132388", "HGNC:12482", "OMIM:601569", "UMLS:C1421280", "UniProtKB:P62253", "PR:P62253", "ENSEMBL:ENSP00000380178", "ENSEMBL:ENSP00000380178.2", "UMLS:C0526536", "MESH:C471615"], "information_content": 90.9}
{"id": "NCBIGene:137964", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPAT4", "equivalent_identifiers": ["NCBIGene:137964", "ENSEMBL:ENSG00000158669", "HGNC:20880", "OMIM:608143", "UMLS:C1826612", "UniProtKB:Q86UL3", "PR:Q86UL3", "ENSEMBL:ENSP00000380184", "ENSEMBL:ENSP00000380184.3", "UMLS:C2354028", "MESH:C529123"], "information_content": 90.9}
{"id": "UniProtKB:Q3KR16-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family G member 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3KR16-1", "PR:Q3KR16-1", "ENSEMBL:ENSP00000011684", "ENSEMBL:ENSP00000011684.7", "ENSEMBL:ENSP00000380185", "ENSEMBL:ENSP00000380185.3", "ENSEMBL:ENSP00000506982", "ENSEMBL:ENSP00000506982.1"], "information_content": 100.0}
{"id": "UniProtKB:P13612-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin alpha-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13612-1", "PR:P13612-1", "ENSEMBL:ENSP00000380227", "ENSEMBL:ENSP00000380227.2"], "information_content": 100.0}
{"id": "UniProtKB:P36639-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxidized purine nucleoside triphosphate hydrolase isoform hp22 (human)", "equivalent_identifiers": ["UniProtKB:P36639-2", "PR:P36639-2", "ENSEMBL:ENSP00000339503", "ENSEMBL:ENSP00000339503.4", "ENSEMBL:ENSP00000380241", "ENSEMBL:ENSP00000380241.1"], "information_content": 100.0}
{"id": "NCBIGene:3269", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HRH1", "equivalent_identifiers": ["NCBIGene:3269", "ENSEMBL:ENSG00000196639", "HGNC:5182", "OMIM:600167", "UMLS:C1439351", "UniProtKB:P35367", "PR:P35367", "ENSEMBL:ENSP00000380247", "ENSEMBL:ENSP00000380247.1", "ENSEMBL:ENSP00000397028", "ENSEMBL:ENSP00000397028.2", "ENSEMBL:ENSP00000406705", "ENSEMBL:ENSP00000406705.2", "UMLS:C5882270", "MESH:C000729311"], "information_content": 95.4}
{"id": "UniProtKB:O00476-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium-dependent phosphate transport protein 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O00476-2", "PR:O00476-2", "ENSEMBL:ENSP00000380250", "ENSEMBL:ENSP00000380250.4"], "information_content": 100.0}
{"id": "NCBIGene:390916", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUDT19", "equivalent_identifiers": ["NCBIGene:390916", "ENSEMBL:ENSG00000213965", "HGNC:32036", "UMLS:C1826492", "UniProtKB:A8MXV4", "PR:A8MXV4", "ENSEMBL:ENSP00000380251", "ENSEMBL:ENSP00000380251.2"], "information_content": 90.9}
{"id": "UniProtKB:Q16236-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor erythroid 2-related factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16236-1", "PR:Q16236-1", "ENSEMBL:ENSP00000380252", "ENSEMBL:ENSP00000380252.3"], "information_content": 100.0}
{"id": "NCBIGene:899", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCNF", "equivalent_identifiers": ["NCBIGene:899", "ENSEMBL:ENSG00000162063", "HGNC:1591", "OMIM:600227", "UMLS:C1413178", "UniProtKB:P41002", "PR:P41002", "ENSEMBL:ENSP00000380256", "ENSEMBL:ENSP00000380256.4", "UMLS:C1620018", "MESH:C503669", "UniProtKB:Q59HD0"], "information_content": 90.9}
{"id": "UniProtKB:Q8WZA2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rap guanine nucleotide exchange factor 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WZA2-1", "PR:Q8WZA2-1", "ENSEMBL:ENSP00000380271", "ENSEMBL:ENSP00000380271.3"], "information_content": 100.0}
{"id": "NCBIGene:2852", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPER1", "equivalent_identifiers": ["NCBIGene:2852", "ENSEMBL:ENSG00000164850", "HGNC:4485", "OMIM:601805", "UMLS:C1415223", "UniProtKB:Q63ZY2", "UniProtKB:Q99527", "PR:Q99527", "ENSEMBL:ENSP00000297469", "ENSEMBL:ENSP00000297469.3", "ENSEMBL:ENSP00000380277", "ENSEMBL:ENSP00000380277.3", "ENSEMBL:ENSP00000380281", "ENSEMBL:ENSP00000380281.1", "ENSEMBL:ENSP00000385151", "ENSEMBL:ENSP00000385151.1", "UMLS:C0673013", "MESH:C109584"], "information_content": 95.4}
{"id": "NCBIGene:84502", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JPH4", "equivalent_identifiers": ["NCBIGene:84502", "ENSEMBL:ENSG00000092051", "HGNC:20156", "OMIM:619863", "UMLS:C1537431", "UniProtKB:Q96JJ6", "PR:Q96JJ6", "ENSEMBL:ENSP00000348648", "ENSEMBL:ENSP00000348648.4", "ENSEMBL:ENSP00000380307", "ENSEMBL:ENSP00000380307.3"], "information_content": 90.9}
{"id": "UniProtKB:Q13409-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoplasmic dynein 1 intermediate chain 2 isoform 2A (human)", "equivalent_identifiers": ["UniProtKB:Q13409-1", "PR:Q13409-1", "ENSEMBL:ENSP00000380308", "ENSEMBL:ENSP00000380308.3", "ENSEMBL:ENSP00000386415", "ENSEMBL:ENSP00000386415.1", "ENSEMBL:ENSP00000517844", "ENSEMBL:ENSP00000517844.1", "ENSEMBL:ENSP00000517851", "ENSEMBL:ENSP00000517851.1"], "information_content": 100.0}
{"id": "NCBIGene:163223", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF676", "equivalent_identifiers": ["NCBIGene:163223", "ENSEMBL:ENSG00000196109", "HGNC:20429", "UMLS:C1538239", "UniProtKB:A0A3B3ITU2", "ENSEMBL:ENSP00000497897", "ENSEMBL:ENSP00000497897.1", "UniProtKB:Q8N7Q3", "PR:Q8N7Q3", "ENSEMBL:ENSP00000378783", "ENSEMBL:ENSP00000378783.4", "ENSEMBL:ENSP00000380310", "ENSEMBL:ENSP00000380310.1", "UMLS:C4550212", "MESH:C000625484"], "information_content": 100.0}
{"id": "UniProtKB:O43345-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 208 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43345-1", "PR:O43345-1", "ENSEMBL:ENSP00000380315", "ENSEMBL:ENSP00000380315.3"], "information_content": 100.0}
{"id": "UniProtKB:O75386-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubby-related protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75386-2", "PR:O75386-2", "ENSEMBL:ENSP00000380321", "ENSEMBL:ENSP00000380321.2"], "information_content": 100.0}
{"id": "NCBIGene:83460", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EMC6", "equivalent_identifiers": ["NCBIGene:83460", "ENSEMBL:ENSG00000127774", "HGNC:28430", "OMIM:620261", "UMLS:C1823355", "UniProtKB:Q9BV81", "PR:Q9BV81", "ENSEMBL:ENSP00000248378", "ENSEMBL:ENSP00000248378.4", "ENSEMBL:ENSP00000380322", "ENSEMBL:ENSP00000380322.1", "UMLS:C3657172", "MESH:C582104"], "information_content": 95.4}
{"id": "NCBIGene:80760", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITIH5", "equivalent_identifiers": ["NCBIGene:80760", "ENSEMBL:ENSG00000123243", "HGNC:21449", "OMIM:609783", "UMLS:C1427561", "UniProtKB:A0A096LP62", "ENSEMBL:ENSP00000485414", "ENSEMBL:ENSP00000485414.1", "UMLS:C1435930", "MESH:C482680", "UniProtKB:C9J2H1", "ENSEMBL:ENSP00000380333", "ENSEMBL:ENSP00000380333.3", "UniProtKB:G5E9D8", "ENSEMBL:ENSP00000380332", "ENSEMBL:ENSP00000380332.2", "UniProtKB:Q86UX2", "PR:Q86UX2", "UniProtKB:Q96JW9"]}
{"id": "UniProtKB:Q15080-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neutrophil cytosol factor 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q15080-3", "PR:Q15080-3", "ENSEMBL:ENSP00000380334", "ENSEMBL:ENSP00000380334.4"], "information_content": 100.0}
{"id": "UniProtKB:Q2TAY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD40 repeat-containing protein SMU1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2TAY7-1", "PR:Q2TAY7-1", "ENSEMBL:ENSP00000380336", "ENSEMBL:ENSP00000380336.3"], "information_content": 100.0}
{"id": "UniProtKB:P20807-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calpain-3 isoform I (human)", "equivalent_identifiers": ["UniProtKB:P20807-1", "PR:P20807-1", "ENSEMBL:ENSP00000380349", "ENSEMBL:ENSP00000380349.3"], "information_content": 100.0}
{"id": "UniProtKB:O94830-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "triacylglycerol hydrolase DDHD2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94830-1", "PR:O94830-1", "ENSEMBL:ENSP00000380352", "ENSEMBL:ENSP00000380352.2", "ENSEMBL:ENSP00000429932", "ENSEMBL:ENSP00000429932.2"], "information_content": 100.0}
{"id": "NCBIGene:57713", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SFMBT2", "equivalent_identifiers": ["NCBIGene:57713", "ENSEMBL:ENSG00000198879", "HGNC:20256", "OMIM:615392", "UMLS:C1426813", "UniProtKB:Q5VUG0", "PR:Q5VUG0", "ENSEMBL:ENSP00000355109", "ENSEMBL:ENSP00000355109.4", "ENSEMBL:ENSP00000380353", "ENSEMBL:ENSP00000380353.1", "UMLS:C3657116", "MESH:C582334"], "information_content": 95.4}
{"id": "MONDO:0011423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2E", "equivalent_identifiers": ["MONDO:0011423", "DOID:0110279", "OMIM:604286", "orphanet:119", "UMLS:C1858593", "MESH:C535902", "NCIT:C180849", "SNOMEDCT:718850008", "medgen:347674"], "information_content": 100.0}
{"id": "UniProtKB:Q15493-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regucalcin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15493-1", "PR:Q15493-1", "ENSEMBL:ENSP00000253303", "ENSEMBL:ENSP00000253303.4", "ENSEMBL:ENSP00000338400", "ENSEMBL:ENSP00000338400.3", "ENSEMBL:ENSP00000380365", "ENSEMBL:ENSP00000380365.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKX2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKX2-1", "PR:Q9UKX2-1", "ENSEMBL:ENSP00000245503", "ENSEMBL:ENSP00000245503.5", "ENSEMBL:ENSP00000380367", "ENSEMBL:ENSP00000380367.2"], "information_content": 100.0}
{"id": "UniProtKB:P43034-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "platelet-activating factor acetylhydrolase IB subunit beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P43034-1", "PR:P43034-1", "ENSEMBL:ENSP00000380378", "ENSEMBL:ENSP00000380378.4", "ENSEMBL:ENSP00000461087", "ENSEMBL:ENSP00000461087.2", "ENSEMBL:ENSP00000501969", "ENSEMBL:ENSP00000501969.1", "ENSEMBL:ENSP00000502031", "ENSEMBL:ENSP00000502031.1", "ENSEMBL:ENSP00000502577", "ENSEMBL:ENSP00000502577.1", "ENSEMBL:ENSP00000502735", "ENSEMBL:ENSP00000502735.1", "ENSEMBL:ENSP00000502843", "ENSEMBL:ENSP00000502843.1", "ENSEMBL:ENSP00000519277", "ENSEMBL:ENSP00000519277.1", "ENSEMBL:ENSP00000519278", "ENSEMBL:ENSP00000519278.1"], "information_content": 100.0}
{"id": "NCBIGene:81029", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WNT5B", "equivalent_identifiers": ["NCBIGene:81029", "ENSEMBL:ENSG00000111186", "HGNC:16265", "OMIM:606361", "UMLS:C1424137", "UniProtKB:Q9H1J7", "PR:Q9H1J7", "ENSEMBL:ENSP00000308887", "ENSEMBL:ENSP00000308887.3", "ENSEMBL:ENSP00000380379", "ENSEMBL:ENSP00000380379.2", "ENSEMBL:ENSP00000439312", "ENSEMBL:ENSP00000439312.1", "UMLS:C1101413", "UMLS:C4283961", "MESH:C435831"], "information_content": 88.2}
{"id": "UniProtKB:Q8IWF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FAD-dependent oxidoreductase domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWF2-1", "PR:Q8IWF2-1", "ENSEMBL:ENSP00000216187", "ENSEMBL:ENSP00000216187.6", "ENSEMBL:ENSP00000380400", "ENSEMBL:ENSP00000380400.4", "ENSEMBL:ENSP00000380401", "ENSEMBL:ENSP00000380401.4", "ENSEMBL:ENSP00000510800", "ENSEMBL:ENSP00000510800.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96P47-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96P47-4", "PR:Q96P47-4", "ENSEMBL:ENSP00000380413", "ENSEMBL:ENSP00000380413.2"], "information_content": 100.0}
{"id": "NCBIGene:3601", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL15RA", "equivalent_identifiers": ["NCBIGene:3601", "ENSEMBL:ENSG00000134470", "HGNC:5978", "OMIM:601070", "UMLS:C1416387", "UniProtKB:A0A0A0MS77", "ENSEMBL:ENSP00000380421", "ENSEMBL:ENSP00000380421.3", "UMLS:C1700975", "MESH:C508024", "UniProtKB:G8CVM3", "UniProtKB:Q13261", "PR:Q13261"]}
{"id": "NCBIGene:100526693", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARPC4-TTLL3", "equivalent_identifiers": ["NCBIGene:100526693", "ENSEMBL:ENSG00000250151", "HGNC:38830", "UMLS:C3146626", "UniProtKB:A0A0A6YYG9", "ENSEMBL:ENSP00000380427"]}
{"id": "UniProtKB:P01308-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000380432", "equivalent_identifiers": ["UniProtKB:P01308-1", "ENSEMBL:ENSP00000250971", "ENSEMBL:ENSP00000250971.3", "ENSEMBL:ENSP00000370731", "ENSEMBL:ENSP00000370731.5", "ENSEMBL:ENSP00000380432", "ENSEMBL:ENSP00000380432.1"]}
{"id": "UniProtKB:Q8WUG5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 22 member 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUG5-1", "PR:Q8WUG5-1", "ENSEMBL:ENSP00000380437", "ENSEMBL:ENSP00000380437.2"], "information_content": 100.0}
{"id": "UniProtKB:F8WCM5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000380440", "equivalent_identifiers": ["UniProtKB:F8WCM5-1", "ENSEMBL:ENSP00000348986", "ENSEMBL:ENSP00000348986.4", "ENSEMBL:ENSP00000380440", "ENSEMBL:ENSP00000380440.1"]}
{"id": "UniProtKB:Q8NFA2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADPH oxidase organizer 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFA2-1", "PR:Q8NFA2-1", "ENSEMBL:ENSP00000380450", "ENSEMBL:ENSP00000380450.4", "ENSEMBL:ENSP00000517592", "ENSEMBL:ENSP00000517592.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAM6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ermin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAM6-2", "PR:Q8TAM6-2", "ENSEMBL:ENSP00000380453", "ENSEMBL:ENSP00000380453.2"], "information_content": 100.0}
{"id": "NCBIGene:9373", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLAA", "equivalent_identifiers": ["NCBIGene:9373", "ENSEMBL:ENSG00000137055", "HGNC:9043", "OMIM:603873", "UMLS:C1418627", "UniProtKB:Q9Y263", "PR:Q9Y263", "ENSEMBL:ENSP00000380460", "ENSEMBL:ENSP00000380460.3", "UMLS:C1571042"], "information_content": 88.2}
{"id": "NCBIGene:6150", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL23", "equivalent_identifiers": ["NCBIGene:6150", "ENSEMBL:ENSG00000214026", "HGNC:10322", "OMIM:600789", "UMLS:C1419646", "UniProtKB:A6NJD9", "ENSEMBL:ENSP00000370925", "ENSEMBL:ENSP00000370925.3", "ENSEMBL:ENSP00000500687", "ENSEMBL:ENSP00000500687.1", "UniProtKB:A8MYK1", "ENSEMBL:ENSP00000380465", "ENSEMBL:ENSP00000380465.3", "ENSEMBL:ENSP00000500762", "ENSEMBL:ENSP00000500762.1", "UniProtKB:Q16540", "PR:Q16540", "ENSEMBL:ENSP00000370930", "ENSEMBL:ENSP00000370930.1", "ENSEMBL:ENSP00000380466", "ENSEMBL:ENSP00000380466.3", "ENSEMBL:ENSP00000500123", "ENSEMBL:ENSP00000500123.1", "ENSEMBL:ENSP00000500896", "ENSEMBL:ENSP00000500896.1", "UMLS:C1430360", "MESH:C097584"], "information_content": 100.0}
{"id": "NCBIGene:100137047", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JMJD7", "equivalent_identifiers": ["NCBIGene:100137047", "ENSEMBL:ENSG00000243789", "HGNC:34397", "UMLS:C2681622", "UniProtKB:P0C870", "PR:P0C870", "ENSEMBL:ENSP00000380467", "ENSEMBL:ENSP00000380467.4"], "information_content": 95.4}
{"id": "UniProtKB:P12524-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein L-Myc isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P12524-3", "PR:P12524-3", "ENSEMBL:ENSP00000380494", "ENSEMBL:ENSP00000380494.2"], "information_content": 100.0}
{"id": "NCBIGene:317781", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX51", "equivalent_identifiers": ["NCBIGene:317781", "ENSEMBL:ENSG00000185163", "HGNC:20082", "UMLS:C1426668", "UniProtKB:Q8N8A6", "PR:Q8N8A6", "ENSEMBL:ENSP00000380495", "ENSEMBL:ENSP00000380495.3", "ENSEMBL:ENSP00000500171", "ENSEMBL:ENSP00000500171.1", "UMLS:C4705391", "MESH:C000626796"], "information_content": 92.8}
{"id": "UniProtKB:Q16775-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hydroxyacylglutathione hydrolase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16775-1", "PR:Q16775-1", "ENSEMBL:ENSP00000380514", "ENSEMBL:ENSP00000380514.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86UP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-24 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UP0-1", "PR:Q86UP0-1", "ENSEMBL:ENSP00000267383", "ENSEMBL:ENSP00000267383.5", "ENSEMBL:ENSP00000380517", "ENSEMBL:ENSP00000380517.3"], "information_content": 100.0}
{"id": "NCBIGene:133690", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAPSL", "equivalent_identifiers": ["NCBIGene:133690", "ENSEMBL:ENSG00000152611", "HGNC:28375", "OMIM:618799", "UMLS:C1824527", "UniProtKB:Q8WWF8", "PR:Q8WWF8", "ENSEMBL:ENSP00000380523", "ENSEMBL:ENSP00000380523.1", "ENSEMBL:ENSP00000380524", "ENSEMBL:ENSP00000380524.2", "ENSEMBL:ENSP00000498465", "ENSEMBL:ENSP00000498465.1"], "information_content": 95.4}
{"id": "NCBIGene:1850", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUSP8", "equivalent_identifiers": ["NCBIGene:1850", "ENSEMBL:ENSG00000184545", "HGNC:3074", "OMIM:602038", "UMLS:C1414189", "UniProtKB:Q13202", "PR:Q13202", "ENSEMBL:ENSP00000329539", "ENSEMBL:ENSP00000329539.4", "ENSEMBL:ENSP00000380530", "ENSEMBL:ENSP00000380530.3", "ENSEMBL:ENSP00000479946", "ENSEMBL:ENSP00000479946.1", "ENSEMBL:ENSP00000481775", "ENSEMBL:ENSP00000481775.1", "ENSEMBL:ENSP00000487017", "ENSEMBL:ENSP00000487017.1", "ENSEMBL:ENSP00000487093", "ENSEMBL:ENSP00000487093.1", "ENSEMBL:ENSP00000516909", "ENSEMBL:ENSP00000516909.1", "ENSEMBL:ENSP00000516910", "ENSEMBL:ENSP00000516910.1", "UMLS:C1872770", "MESH:C517038"], "information_content": 100.0}
{"id": "NCBIGene:7106", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPAN4", "equivalent_identifiers": ["NCBIGene:7106", "ENSEMBL:ENSG00000214063", "HGNC:11859", "OMIM:602644", "UMLS:C1540084", "UniProtKB:A8MVV6", "ENSEMBL:ENSP00000380551", "ENSEMBL:ENSP00000380551.1", "ENSEMBL:ENSP00000431943", "ENSEMBL:ENSP00000431943.1", "UMLS:C1431038", "MESH:C109139", "UniProtKB:O14817", "PR:O14817", "ENSEMBL:ENSP00000380552", "ENSEMBL:ENSP00000380552.2", "ENSEMBL:ENSP00000380553", "ENSEMBL:ENSP00000380553.1", "ENSEMBL:ENSP00000380554", "ENSEMBL:ENSP00000380554.1", "ENSEMBL:ENSP00000380555", "ENSEMBL:ENSP00000380555.1", "ENSEMBL:ENSP00000380558", "ENSEMBL:ENSP00000380558.2", "ENSEMBL:ENSP00000386513", "ENSEMBL:ENSP00000386513.2"], "information_content": 95.4}
{"id": "MONDO:0000341", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paralytic poliomyelitis", "equivalent_identifiers": ["MONDO:0000341", "DOID:0050515", "UMLS:C1405301", "medgen:1684656"], "information_content": 90.9}
{"id": "UniProtKB:Q9ULX6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-kinase anchor protein 8-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULX6-1", "PR:Q9ULX6-1", "ENSEMBL:ENSP00000380557", "ENSEMBL:ENSP00000380557.3"], "information_content": 100.0}
{"id": "MONDO:0007269", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1A", "equivalent_identifiers": ["MONDO:0007269", "DOID:0110425", "OMIM:115200", "orphanet:300751", "UMLS:C1449563", "UMLS:C4707865", "UMLS:C5979868", "NCIT:C165596", "SNOMEDCT:53043001", "SNOMEDCT:766883006", "medgen:258500"], "information_content": 100.0}
{"id": "NCBIGene:57585", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRAMP1", "equivalent_identifiers": ["NCBIGene:57585", "ENSEMBL:ENSG00000007545", "HGNC:14122", "UMLS:C1422419", "UniProtKB:A7MD53", "UniProtKB:B2RNX8", "UniProtKB:Q96RY5", "PR:Q96RY5", "ENSEMBL:ENSP00000293925", "ENSEMBL:ENSP00000293925.5", "ENSEMBL:ENSP00000380559", "ENSEMBL:ENSP00000380559.2"], "information_content": 90.9}
{"id": "UniProtKB:Q8TDH9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "biogenesis of lysosome-related organelles complex 1 subunit 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDH9-1", "PR:Q8TDH9-1", "ENSEMBL:ENSP00000380598", "ENSEMBL:ENSP00000380598.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWV2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "contactin-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWV2-1", "PR:Q8IWV2-1", "ENSEMBL:ENSP00000380602", "ENSEMBL:ENSP00000380602.1", "ENSEMBL:ENSP00000396010", "ENSEMBL:ENSP00000396010.1", "ENSEMBL:ENSP00000413642", "ENSEMBL:ENSP00000413642.1"], "information_content": 100.0}
{"id": "MONDO:0030440", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 22", "equivalent_identifiers": ["MONDO:0030440", "DOID:0081448", "OMIM:619531", "UMLS:C5561989", "medgen:1794199"], "information_content": 100.0}
{"id": "UniProtKB:Q8N2G4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ly6/PLAUR domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2G4-1", "PR:Q8N2G4-1", "ENSEMBL:ENSP00000380605", "ENSEMBL:ENSP00000380605.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14289-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-tyrosine kinase 2-beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14289-1", "PR:Q14289-1", "ENSEMBL:ENSP00000332816", "ENSEMBL:ENSP00000332816.6", "ENSEMBL:ENSP00000380638", "ENSEMBL:ENSP00000380638.1"], "information_content": 95.4}
{"id": "UniProtKB:Q96HE8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 80 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HE8-1", "PR:Q96HE8-1", "ENSEMBL:ENSP00000380646", "ENSEMBL:ENSP00000380646.4"], "information_content": 100.0}
{"id": "MONDO:0002939", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin pigmented basal cell carcinoma", "equivalent_identifiers": ["MONDO:0002939", "DOID:4282", "UMLS:C1368275", "MEDDRA:10035029", "NCIT:C9359", "SNOMEDCT:399585007", "SNOMEDCT:403909004", "medgen:237149"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRA8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 4E transporter isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRA8-1", "PR:Q9NRA8-1", "ENSEMBL:ENSP00000328103", "ENSEMBL:ENSP00000328103.5", "ENSEMBL:ENSP00000380659", "ENSEMBL:ENSP00000380659.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BV73-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosome-associated protein CEP250 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BV73-1", "PR:Q9BV73-1", "ENSEMBL:ENSP00000380661", "ENSEMBL:ENSP00000380661.1"], "information_content": 100.0}
{"id": "NCBIGene:9056", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC7A7", "equivalent_identifiers": ["NCBIGene:9056", "ENSEMBL:ENSG00000155465", "HGNC:11065", "OMIM:603593", "UMLS:C1420226", "UniProtKB:A0A0S2Z502", "UniProtKB:Q9UM01", "PR:Q9UM01", "ENSEMBL:ENSP00000285850", "ENSEMBL:ENSP00000285850.7", "ENSEMBL:ENSP00000380662", "ENSEMBL:ENSP00000380662.4", "ENSEMBL:ENSP00000380663", "ENSEMBL:ENSP00000380663.2", "ENSEMBL:ENSP00000380666", "ENSEMBL:ENSP00000380666.4", "ENSEMBL:ENSP00000451881", "ENSEMBL:ENSP00000451881.1", "ENSEMBL:ENSP00000452551", "ENSEMBL:ENSP00000452551.2", "ENSEMBL:ENSP00000501493", "ENSEMBL:ENSP00000501493.1", "UMLS:C1448688", "MESH:C421261"], "information_content": 89.4}
{"id": "NCBIGene:255798", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMCO1", "equivalent_identifiers": ["NCBIGene:255798", "ENSEMBL:ENSG00000214097", "HGNC:27407", "UMLS:C1824139", "UniProtKB:Q147U7", "PR:Q147U7", "ENSEMBL:ENSP00000380671", "ENSEMBL:ENSP00000380671.2"], "information_content": 100.0}
{"id": "NCBIGene:494551", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WEE2", "equivalent_identifiers": ["NCBIGene:494551", "ENSEMBL:ENSG00000214102", "HGNC:19684", "OMIM:614084", "UMLS:C1538106", "UniProtKB:P0C1S8", "PR:P0C1S8", "ENSEMBL:ENSP00000380675", "ENSEMBL:ENSP00000380675.2", "ENSEMBL:ENSP00000459392", "ENSEMBL:ENSP00000459392.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HBB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-related family member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBB8-1", "PR:Q9HBB8-1", "ENSEMBL:ENSP00000380676", "ENSEMBL:ENSP00000380676.2", "ENSEMBL:ENSP00000501074", "ENSEMBL:ENSP00000501074.1"], "information_content": 100.0}
{"id": "UniProtKB:Q4G0X9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 40 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4G0X9-1", "PR:Q4G0X9-1", "ENSEMBL:ENSP00000380679", "ENSEMBL:ENSP00000380679.4", "ENSEMBL:ENSP00000516972", "ENSEMBL:ENSP00000516972.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZP65-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BICD family-like cargo adapter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZP65-1", "PR:Q6ZP65-1", "ENSEMBL:ENSP00000380690", "ENSEMBL:ENSP00000380690.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMT4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase 7A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMT4-1", "PR:Q6ZMT4-1", "ENSEMBL:ENSP00000380692", "ENSEMBL:ENSP00000380692.2"], "information_content": 100.0}
{"id": "UniProtKB:Q92985-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon regulatory factor 7 isoform D (human)", "equivalent_identifiers": ["UniProtKB:Q92985-4", "PR:Q92985-4", "ENSEMBL:ENSP00000329411", "ENSEMBL:ENSP00000329411.5", "ENSEMBL:ENSP00000380697", "ENSEMBL:ENSP00000380697.1", "ENSEMBL:ENSP00000479615", "ENSEMBL:ENSP00000479615.1", "ENSEMBL:ENSP00000488039", "ENSEMBL:ENSP00000488039.1"], "information_content": 100.0}
{"id": "NCBIGene:26292", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYCBP", "equivalent_identifiers": ["NCBIGene:26292", "ENSEMBL:ENSG00000214114", "HGNC:7554", "OMIM:606535", "UMLS:C1417525", "UniProtKB:Q99417", "PR:Q99417", "ENSEMBL:ENSP00000380702", "ENSEMBL:ENSP00000380702.2", "UMLS:C1431610", "MESH:C116115"], "information_content": 95.4}
{"id": "UniProtKB:Q02833-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras association domain-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02833-1", "PR:Q02833-1", "ENSEMBL:ENSP00000380713", "ENSEMBL:ENSP00000380713.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y232-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromodomain Y-like protein isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y232-2", "PR:Q9Y232-2", "ENSEMBL:ENSP00000380718", "ENSEMBL:ENSP00000380718.3"], "information_content": 100.0}
{"id": "UniProtKB:Q52LJ0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM98B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q52LJ0-2", "PR:Q52LJ0-2", "ENSEMBL:ENSP00000380734", "ENSEMBL:ENSP00000380734.2"], "information_content": 100.0}
{"id": "UniProtKB:P55345-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein arginine N-methyltransferase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P55345-1", "PR:P55345-1", "ENSEMBL:ENSP00000347906", "ENSEMBL:ENSP00000347906.3", "ENSEMBL:ENSP00000380759", "ENSEMBL:ENSP00000380759.1", "ENSEMBL:ENSP00000380760", "ENSEMBL:ENSP00000380760.2"], "information_content": 100.0}
{"id": "NCBIGene:100134934", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEN1", "equivalent_identifiers": ["NCBIGene:100134934", "ENSEMBL:ENSG00000257949", "HGNC:37242", "OMIM:613130", "UMLS:C2751072", "UniProtKB:Q86WV5", "PR:Q86WV5", "ENSEMBL:ENSP00000380762", "ENSEMBL:ENSP00000380762.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6X9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATPase MORC2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6X9-1", "PR:Q9Y6X9-1", "ENSEMBL:ENSP00000380763", "ENSEMBL:ENSP00000380763.2"], "information_content": 100.0}
{"id": "UniProtKB:Q2MV58-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tectonic-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q2MV58-2", "PR:Q2MV58-2", "ENSEMBL:ENSP00000380779", "ENSEMBL:ENSP00000380779.4"], "information_content": 100.0}
{"id": "UniProtKB:Q14938-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor 1 X-type isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q14938-3", "PR:Q14938-3", "ENSEMBL:ENSP00000380781", "ENSEMBL:ENSP00000380781.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96ED9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Hook homolog 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96ED9-1", "PR:Q96ED9-1", "ENSEMBL:ENSP00000380785", "ENSEMBL:ENSP00000380785.2"], "information_content": 100.0}
{"id": "UniProtKB:Q92685-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92685-1", "PR:Q92685-1", "ENSEMBL:ENSP00000380793", "ENSEMBL:ENSP00000380793.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "charged multivesicular body protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUX9-1", "PR:Q8WUX9-1", "ENSEMBL:ENSP00000324491", "ENSEMBL:ENSP00000324491.7", "ENSEMBL:ENSP00000380794", "ENSEMBL:ENSP00000380794.1"], "information_content": 100.0}
{"id": "UniProtKB:P48449-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lanosterol synthase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48449-1", "PR:P48449-1", "ENSEMBL:ENSP00000348762", "ENSEMBL:ENSP00000348762.3", "ENSEMBL:ENSP00000380837", "ENSEMBL:ENSP00000380837.2"], "information_content": 100.0}
{"id": "MONDO:0032649", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypotrichosis 14", "equivalent_identifiers": ["MONDO:0032649", "DOID:0080582", "OMIM:618275", "UMLS:C4748930", "medgen:1648477"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQ51-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "programmed cell death 1 ligand 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQ51-1", "PR:Q9BQ51-1", "ENSEMBL:ENSP00000380855", "ENSEMBL:ENSP00000380855.3"], "information_content": 100.0}
{"id": "UniProtKB:O95954-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "formimidoyltransferase-cyclodeaminase isoform C (human)", "equivalent_identifiers": ["UniProtKB:O95954-2", "PR:O95954-2", "ENSEMBL:ENSP00000380856", "ENSEMBL:ENSP00000380856.1"], "information_content": 100.0}
{"id": "NCBIGene:161779", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGBD4", "equivalent_identifiers": ["NCBIGene:161779", "ENSEMBL:ENSG00000182405", "HGNC:19401", "OMIM:621245", "UMLS:C1426222", "UniProtKB:Q96DM1", "PR:Q96DM1", "ENSEMBL:ENSP00000380872", "ENSEMBL:ENSP00000380872.2"], "information_content": 100.0}
{"id": "UniProtKB:O94810-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94810-1", "PR:O94810-1", "ENSEMBL:ENSP00000380876", "ENSEMBL:ENSP00000380876.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H1I8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "activating signal cointegrator 1 complex subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1I8-1", "PR:Q9H1I8-1", "ENSEMBL:ENSP00000305502", "ENSEMBL:ENSP00000305502.3", "ENSEMBL:ENSP00000380877", "ENSEMBL:ENSP00000380877.2"], "information_content": 100.0}
{"id": "UniProtKB:P48454-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P48454-3", "PR:P48454-3", "ENSEMBL:ENSP00000380878", "ENSEMBL:ENSP00000380878.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N2U9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 66 member 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2U9-1", "PR:Q8N2U9-1", "ENSEMBL:ENSP00000380880", "ENSEMBL:ENSP00000380880.2"], "information_content": 100.0}
{"id": "NCBIGene:9969", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MED13", "equivalent_identifiers": ["NCBIGene:9969", "ENSEMBL:ENSG00000108510", "HGNC:22474", "OMIM:603808", "UMLS:C1427770", "UniProtKB:Q9UHV7", "PR:Q9UHV7", "ENSEMBL:ENSP00000380888", "ENSEMBL:ENSP00000380888.2", "UMLS:C1505279", "MESH:C488666"], "information_content": 88.2}
{"id": "NCBIGene:1296", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL8A2", "equivalent_identifiers": ["NCBIGene:1296", "ENSEMBL:ENSG00000171812", "HGNC:2216", "OMIM:120252", "UMLS:C1413594", "UniProtKB:E9PP49", "ENSEMBL:ENSP00000436433", "ENSEMBL:ENSP00000436433.1", "UMLS:C1432391", "MESH:C443712", "UniProtKB:P25067", "PR:P25067", "ENSEMBL:ENSP00000305913", "ENSEMBL:ENSP00000305913.4", "ENSEMBL:ENSP00000380901", "ENSEMBL:ENSP00000380901.1"], "information_content": 85.5}
{"id": "UniProtKB:Q96MS0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "roundabout homolog 3 isoform ROBO3A.1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MS0-1", "PR:Q96MS0-1", "ENSEMBL:ENSP00000380903", "ENSEMBL:ENSP00000380903.1"], "information_content": 89.4}
{"id": "NCBIGene:661", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR3D", "equivalent_identifiers": ["NCBIGene:661", "ENSEMBL:ENSG00000168495", "HGNC:1080", "OMIM:187280", "UMLS:C1412808", "UniProtKB:P05423", "PR:P05423", "ENSEMBL:ENSP00000303088", "ENSEMBL:ENSP00000303088.4", "ENSEMBL:ENSP00000380904", "ENSEMBL:ENSP00000380904.3", "UMLS:C1438790", "MESH:C404765"], "information_content": 92.8}
{"id": "UniProtKB:Q9Y592-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 83 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y592-1", "PR:Q9Y592-1", "ENSEMBL:ENSP00000344655", "ENSEMBL:ENSP00000344655.5", "ENSEMBL:ENSP00000380911", "ENSEMBL:ENSP00000380911.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96B97-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH3 domain-containing kinase-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96B97-1", "PR:Q96B97-1", "ENSEMBL:ENSP00000380921", "ENSEMBL:ENSP00000380921.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZN5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZN5-1", "PR:Q9NZN5-1", "ENSEMBL:ENSP00000380942", "ENSEMBL:ENSP00000380942.2"], "information_content": 100.0}
{"id": "NCBIGene:3689", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITGB2", "equivalent_identifiers": ["NCBIGene:3689", "ENSEMBL:ENSG00000160255", "HGNC:6155", "OMIM:600065", "UMLS:C1334146", "UniProtKB:A0A494C0X7", "UniProtKB:B4E0R1", "UniProtKB:P05107", "PR:P05107", "ENSEMBL:ENSP00000347279", "ENSEMBL:ENSP00000347279.4", "ENSEMBL:ENSP00000380948", "ENSEMBL:ENSP00000380948.2", "ENSEMBL:ENSP00000380950", "ENSEMBL:ENSP00000380950.1", "ENSEMBL:ENSP00000380955", "ENSEMBL:ENSP00000380955.1", "ENSEMBL:ENSP00000498780", "ENSEMBL:ENSP00000498780.1", "UMLS:C4082564", "MESH:C000730977"], "information_content": 80.9}
{"id": "UniProtKB:P02686-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myelin basic protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P02686-2", "PR:P02686-2", "ENSEMBL:ENSP00000380958", "ENSEMBL:ENSP00000380958.3", "ENSEMBL:ENSP00000380961", "ENSEMBL:ENSP00000380961.1"], "information_content": 100.0}
{"id": "NCBIGene:339210", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C17orf67", "equivalent_identifiers": ["NCBIGene:339210", "ENSEMBL:ENSG00000214226", "HGNC:27900", "UMLS:C1824459", "UniProtKB:Q0P5P2", "PR:Q0P5P2", "ENSEMBL:ENSP00000380959", "ENSEMBL:ENSP00000380959.2"], "information_content": 100.0}
{"id": "NCBIGene:9933", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PUM3", "equivalent_identifiers": ["NCBIGene:9933", "ENSEMBL:ENSG00000080608", "HGNC:29676", "OMIM:609960", "UMLS:C1428887", "UniProtKB:Q15397", "PR:Q15397", "ENSEMBL:ENSP00000380982", "ENSEMBL:ENSP00000380982.2", "UMLS:C1433095", "MESH:C479948"], "information_content": 92.8}
{"id": "NCBIGene:343990", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRACDL", "equivalent_identifiers": ["NCBIGene:343990", "ENSEMBL:ENSG00000196872", "HGNC:33454", "UMLS:C2240249", "UniProtKB:Q6NV74", "PR:Q6NV74", "ENSEMBL:ENSP00000380996", "ENSEMBL:ENSP00000380996.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9HD42-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "charged multivesicular body protein 1a isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HD42-1", "PR:Q9HD42-1", "ENSEMBL:ENSP00000380998", "ENSEMBL:ENSP00000380998.3"], "information_content": 100.0}
{"id": "NCBIGene:23331", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTC28", "equivalent_identifiers": ["NCBIGene:23331", "ENSEMBL:ENSG00000100154", "HGNC:29179", "OMIM:615098", "UMLS:C1823532", "UniProtKB:Q96AY4", "PR:Q96AY4", "ENSEMBL:ENSP00000381003", "ENSEMBL:ENSP00000381003.2", "UMLS:C3530129", "MESH:C577349"], "information_content": 90.9}
{"id": "NCBIGene:386683", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP12-3", "equivalent_identifiers": ["NCBIGene:386683", "ENSEMBL:ENSG00000205439", "HGNC:20531", "UMLS:C1426999", "UniProtKB:P60328", "PR:P60328", "ENSEMBL:ENSP00000381005", "ENSEMBL:ENSP00000381005.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVL0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuron navigator 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVL0-1", "PR:Q8IVL0-1", "ENSEMBL:ENSP00000381007", "ENSEMBL:ENSP00000381007.2"], "information_content": 100.0}
{"id": "NCBIGene:94025", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUC16", "equivalent_identifiers": ["NCBIGene:94025", "ENSEMBL:ENSG00000181143", "HGNC:15582", "OMIM:606154", "UMLS:C1423594", "UniProtKB:A0AAG2UXK0", "ENSEMBL:ENSP00000518831", "ENSEMBL:ENSP00000518831.1", "UniProtKB:B3KY81", "UMLS:C1121702", "MESH:C451759", "UniProtKB:Q8WXI7", "PR:Q8WXI7", "ENSEMBL:ENSP00000381008", "ENSEMBL:ENSP00000381008.2", "UMLS:C2347296"], "information_content": 85.5}
{"id": "UniProtKB:P60411-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin-associated protein 10-9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P60411-1", "PR:P60411-1", "ENSEMBL:ENSP00000381009", "ENSEMBL:ENSP00000381009.3"], "information_content": 100.0}
{"id": "NCBIGene:7226", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRPM2", "equivalent_identifiers": ["NCBIGene:7226", "ENSEMBL:ENSG00000142185", "HGNC:12339", "OMIM:603749", "UMLS:C1421174", "UniProtKB:B4DVI8", "UMLS:C1505166", "MESH:C121934", "UniProtKB:E9PGK7", "ENSEMBL:ENSP00000381026", "ENSEMBL:ENSP00000381026.2", "UniProtKB:O94759", "PR:O94759", "UniProtKB:Q14DR2"]}
{"id": "UniProtKB:Q86SE8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoplasmin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86SE8-1", "PR:Q86SE8-1", "ENSEMBL:ENSP00000289820", "ENSEMBL:ENSP00000289820.6", "ENSEMBL:ENSP00000381032", "ENSEMBL:ENSP00000381032.1", "ENSEMBL:ENSP00000427741", "ENSEMBL:ENSP00000427741.1", "ENSEMBL:ENSP00000429413", "ENSEMBL:ENSP00000429413.1", "ENSEMBL:ENSP00000481077", "ENSEMBL:ENSP00000481077.1"], "information_content": 100.0}
{"id": "NCBIGene:9306", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOCS6", "equivalent_identifiers": ["NCBIGene:9306", "ENSEMBL:ENSG00000170677", "HGNC:16833", "OMIM:605118", "UMLS:C1424581", "UniProtKB:O14544", "PR:O14544", "ENSEMBL:ENSP00000381034", "ENSEMBL:ENSP00000381034.3", "ENSEMBL:ENSP00000463395", "ENSEMBL:ENSP00000463395.1", "UMLS:C1175677", "MESH:C473085"], "information_content": 100.0}
{"id": "UniProtKB:Q8N7X0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "androglobin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N7X0-1", "PR:Q8N7X0-1", "ENSEMBL:ENSP00000381036", "ENSEMBL:ENSP00000381036.3"], "information_content": 100.0}
{"id": "UniProtKB:O43822-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 410 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O43822-4", "PR:O43822-4", "ENSEMBL:ENSP00000381047", "ENSEMBL:ENSP00000381047.3"], "information_content": 100.0}
{"id": "NCBIGene:6035", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNASE1", "equivalent_identifiers": ["NCBIGene:6035", "ENSEMBL:ENSG00000129538", "HGNC:10044", "OMIM:180440", "UMLS:C1419407", "UniProtKB:P07998", "PR:P07998", "ENSEMBL:ENSP00000344193", "ENSEMBL:ENSP00000344193.3", "ENSEMBL:ENSP00000381057", "ENSEMBL:ENSP00000381057.4", "ENSEMBL:ENSP00000381060", "ENSEMBL:ENSP00000381060.4", "ENSEMBL:ENSP00000399493", "ENSEMBL:ENSP00000399493.2", "UniProtKB:W0UV93"], "information_content": 95.4}
{"id": "NCBIGene:1005", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDH7", "equivalent_identifiers": ["NCBIGene:1005", "ENSEMBL:ENSG00000081138", "HGNC:1766", "OMIM:605806", "UMLS:C1413281", "UniProtKB:F5H5X9", "ENSEMBL:ENSP00000443030", "ENSEMBL:ENSP00000443030.2", "UMLS:C1563665", "MESH:C121291", "UniProtKB:Q8IY78", "UniProtKB:Q9ULB5", "PR:Q9ULB5", "ENSEMBL:ENSP00000319166", "ENSEMBL:ENSP00000319166.3", "ENSEMBL:ENSP00000381058", "ENSEMBL:ENSP00000381058.2"], "information_content": 95.4}
{"id": "NCBIGene:55174", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INTS10", "equivalent_identifiers": ["NCBIGene:55174", "ENSEMBL:ENSG00000104613", "HGNC:25548", "OMIM:611353", "UMLS:C1825611", "UniProtKB:Q9NVR2", "PR:Q9NVR2", "ENSEMBL:ENSP00000381064", "ENSEMBL:ENSP00000381064.3", "UMLS:C4506750", "MESH:C000618262"], "information_content": 90.9}
{"id": "MONDO:0013381", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary sensory, type 1D", "equivalent_identifiers": ["MONDO:0013381", "DOID:0070156", "OMIM:613708", "UMLS:C3150972", "medgen:462322"], "information_content": 100.0}
{"id": "MONDO:0014286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary sensory, type 1F", "equivalent_identifiers": ["MONDO:0014286", "DOID:0070154", "OMIM:615632", "UMLS:C3810194", "medgen:816524"], "information_content": 100.0}
{"id": "UniProtKB:O14733-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity mitogen-activated protein kinase kinase 7 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:O14733-3", "PR:O14733-3", "ENSEMBL:ENSP00000381070", "ENSEMBL:ENSP00000381070.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H7Y0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "divergent protein kinase domain 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H7Y0-1", "PR:Q9H7Y0-1", "ENSEMBL:ENSP00000381086", "ENSEMBL:ENSP00000381086.2"], "information_content": 100.0}
{"id": "UniProtKB:P54762-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin type-B receptor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P54762-1", "PR:P54762-1", "ENSEMBL:ENSP00000381097", "ENSEMBL:ENSP00000381097.3"], "information_content": 100.0}
{"id": "MONDO:0011625", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 18", "equivalent_identifiers": ["MONDO:0011625", "DOID:0110549", "OMIM:606012", "UMLS:C1853760", "MESH:C565267", "medgen:340051"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3R0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor-interacting protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3R0-3", "PR:Q9Y3R0-3", "ENSEMBL:ENSP00000381098", "ENSEMBL:ENSP00000381098.3"], "information_content": 100.0}
{"id": "UniProtKB:O75635-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serpin B7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75635-1", "PR:O75635-1", "ENSEMBL:ENSP00000337212", "ENSEMBL:ENSP00000337212.2", "ENSEMBL:ENSP00000381101", "ENSEMBL:ENSP00000381101.2", "ENSEMBL:ENSP00000444861", "ENSEMBL:ENSP00000444861.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86T03-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86T03-2", "PR:Q86T03-2", "ENSEMBL:ENSP00000381102", "ENSEMBL:ENSP00000381102.4", "ENSEMBL:ENSP00000517359", "ENSEMBL:ENSP00000517359.1"], "information_content": 100.0}
{"id": "NCBIGene:9777", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TM9SF4", "equivalent_identifiers": ["NCBIGene:9777", "ENSEMBL:ENSG00000101337", "HGNC:30797", "OMIM:617727", "UMLS:C1539978", "UniProtKB:A0A024QYR3", "UMLS:C2932509", "MESH:C547837", "UniProtKB:A0A0C4DFM1", "ENSEMBL:ENSP00000217315", "ENSEMBL:ENSP00000217315.5", "UniProtKB:B4DH88", "UniProtKB:Q92544", "PR:Q92544", "ENSEMBL:ENSP00000381104", "ENSEMBL:ENSP00000381104.2"], "information_content": 87.2}
{"id": "NCBIGene:594857", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPS", "equivalent_identifiers": ["NCBIGene:594857", "ENSEMBL:ENSG00000214285", "HGNC:33940", "OMIM:609513", "UMLS:C1836075", "UniProtKB:P0C0P6", "PR:P0C0P6", "ENSEMBL:ENSP00000381105", "ENSEMBL:ENSP00000381105.2", "UMLS:C1669473", "MESH:C506531"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0M4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger CW-type PWWP domain protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0M4-1", "PR:Q9H0M4-1", "ENSEMBL:ENSP00000381109", "ENSEMBL:ENSP00000381109.2"], "information_content": 100.0}
{"id": "UniProtKB:P32298-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G protein-coupled receptor kinase 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P32298-1", "PR:P32298-1", "ENSEMBL:ENSP00000381129", "ENSEMBL:ENSP00000381129.4"], "information_content": 100.0}
{"id": "NCBIGene:2267", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGL1", "equivalent_identifiers": ["NCBIGene:2267", "ENSEMBL:ENSG00000104760", "HGNC:3695", "OMIM:605776", "UMLS:C1414608", "UniProtKB:Q08830", "PR:Q08830", "ENSEMBL:ENSP00000371262", "ENSEMBL:ENSP00000371262.2", "ENSEMBL:ENSP00000371263", "ENSEMBL:ENSP00000371263.2", "ENSEMBL:ENSP00000381131", "ENSEMBL:ENSP00000381131.1", "ENSEMBL:ENSP00000381133", "ENSEMBL:ENSP00000381133.2", "ENSEMBL:ENSP00000401952", "ENSEMBL:ENSP00000401952.1", "ENSEMBL:ENSP00000428430", "ENSEMBL:ENSP00000428430.1", "ENSEMBL:ENSP00000429757", "ENSEMBL:ENSP00000429757.1", "UMLS:C1432721", "MESH:C485894"], "information_content": 100.0}
{"id": "NCBIGene:10106", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTDSP2", "equivalent_identifiers": ["NCBIGene:10106", "ENSEMBL:ENSG00000175215", "HGNC:17077", "OMIM:608711", "UMLS:C1424726", "UniProtKB:O14595", "PR:O14595", "ENSEMBL:ENSP00000381148", "ENSEMBL:ENSP00000381148.2", "UMLS:C1308270", "UMLS:C1335071", "MESH:C108580"], "information_content": 90.9}
{"id": "NCBIGene:255374", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MBLAC1", "equivalent_identifiers": ["NCBIGene:255374", "ENSEMBL:ENSG00000214309", "HGNC:22180", "OMIM:620906", "UMLS:C2681656", "UniProtKB:A4D2B0", "PR:A4D2B0", "ENSEMBL:ENSP00000381150", "ENSEMBL:ENSP00000381150.2", "UMLS:C5196978", "MESH:C000630636"], "information_content": 100.0}
{"id": "UniProtKB:P10415-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptosis regulator Bcl-2 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:P10415-1", "PR:P10415-1", "ENSEMBL:ENSP00000329623", "ENSEMBL:ENSP00000329623.3", "ENSEMBL:ENSP00000381185", "ENSEMBL:ENSP00000381185.1"], "information_content": 89.4}
{"id": "NCBIGene:8608", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RDH16", "equivalent_identifiers": ["NCBIGene:8608", "ENSEMBL:ENSG00000139547", "HGNC:29674", "OMIM:620043", "UMLS:C1826791", "UniProtKB:O75452", "PR:O75452", "ENSEMBL:ENSP00000381206", "ENSEMBL:ENSP00000381206.3", "UMLS:C2742594", "UniProtKB:Q59FX7"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQG7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BLOC-3 complex member HPS4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQG7-1", "PR:Q9NQG7-1", "ENSEMBL:ENSP00000338457", "ENSEMBL:ENSP00000338457.5", "ENSEMBL:ENSP00000381213", "ENSEMBL:ENSP00000381213.2", "ENSEMBL:ENSP00000514221", "ENSEMBL:ENSP00000514221.1", "ENSEMBL:ENSP00000514223", "ENSEMBL:ENSP00000514223.1"], "information_content": 100.0}
{"id": "NCBIGene:729857", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RGPD2", "equivalent_identifiers": ["NCBIGene:729857", "ENSEMBL:ENSG00000185304", "HGNC:32415", "OMIM:612705", "UMLS:C1826813", "UniProtKB:B4DYH0", "UniProtKB:P0DJD1", "PR:P0DJD1", "ENSEMBL:ENSP00000381214", "ENSEMBL:ENSP00000381214.3"], "information_content": 95.4}
{"id": "NCBIGene:8570", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KHSRP", "equivalent_identifiers": ["NCBIGene:8570", "ENSEMBL:ENSG00000088247", "HGNC:6316", "OMIM:603445", "UMLS:C1416631", "UniProtKB:M0R0C6", "ENSEMBL:ENSP00000471146", "ENSEMBL:ENSP00000471146.2", "UniProtKB:Q92945", "PR:Q92945", "ENSEMBL:ENSP00000381216", "ENSEMBL:ENSP00000381216.2", "UMLS:C0538643", "MESH:C105789"], "information_content": 87.2}
{"id": "UniProtKB:Q7Z4H3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5'-deoxynucleotidase HDDC2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4H3-1", "PR:Q7Z4H3-1", "ENSEMBL:ENSP00000381220", "ENSEMBL:ENSP00000381220.1"], "information_content": 100.0}
{"id": "UniProtKB:P35520-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cystathionine beta-synthase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35520-1", "PR:P35520-1", "ENSEMBL:ENSP00000344460", "ENSEMBL:ENSP00000344460.5", "ENSEMBL:ENSP00000352643", "ENSEMBL:ENSP00000352643.3", "ENSEMBL:ENSP00000381225", "ENSEMBL:ENSP00000381225.1", "ENSEMBL:ENSP00000381231", "ENSEMBL:ENSP00000381231.4"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCT9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "minor histocompatibility antigen H13 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCT9-2", "PR:Q8TCT9-2", "ENSEMBL:ENSP00000381237", "ENSEMBL:ENSP00000381237.3"], "information_content": 100.0}
{"id": "MONDO:0001247", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "social phobia", "equivalent_identifiers": ["MONDO:0001247", "DOID:11257", "EFO:1001917", "UMLS:C0031572", "MESH:D000072861", "MEDDRA:10041242", "MEDDRA:10041250", "NCIT:C34927", "SNOMEDCT:25501002", "medgen:19254", "ICD10:F40.1", "ICD9:300.23"], "information_content": 100.0}
{"id": "NCBIGene:285588", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EFCAB9", "equivalent_identifiers": ["NCBIGene:285588", "ENSEMBL:ENSG00000214360", "HGNC:34530", "OMIM:618520", "UMLS:C2681450", "UniProtKB:A8MZ26", "PR:A8MZ26", "ENSEMBL:ENSP00000381247", "ENSEMBL:ENSP00000381247.4"], "information_content": 100.0}
{"id": "NCBIGene:319", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOF", "equivalent_identifiers": ["NCBIGene:319", "ENSEMBL:ENSG00000175336", "HGNC:615", "OMIM:107760", "UMLS:C1412483", "UniProtKB:Q13790", "PR:Q13790", "ENSEMBL:ENSP00000381250", "ENSEMBL:ENSP00000381250.3"], "information_content": 83.1}
{"id": "UniProtKB:P57081-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P57081-1", "PR:P57081-1", "ENSEMBL:ENSP00000328671", "ENSEMBL:ENSP00000328671.2", "ENSEMBL:ENSP00000381266", "ENSEMBL:ENSP00000381266.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96NH3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein broad-minded isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NH3-1", "PR:Q96NH3-1", "ENSEMBL:ENSP00000381270", "ENSEMBL:ENSP00000381270.2"], "information_content": 100.0}
{"id": "NCBIGene:55829", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SELENOS", "equivalent_identifiers": ["NCBIGene:55829", "ENSEMBL:ENSG00000131871", "HGNC:30396", "OMIM:607918", "UMLS:C1842829", "UniProtKB:Q6GYA4", "UMLS:C1453792", "MESH:C487710", "UniProtKB:Q9BQE4", "PR:Q9BQE4", "ENSEMBL:ENSP00000381282", "ENSEMBL:ENSP00000381282.3", "ENSEMBL:ENSP00000433541", "ENSEMBL:ENSP00000433541.1"], "information_content": 100.0}
{"id": "UniProtKB:P46459-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vesicle-fusing ATPase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P46459-1", "PR:P46459-1", "ENSEMBL:ENSP00000381293", "ENSEMBL:ENSP00000381293.4", "ENSEMBL:ENSP00000478614", "ENSEMBL:ENSP00000478614.1", "ENSEMBL:ENSP00000481714", "ENSEMBL:ENSP00000481714.1", "ENSEMBL:ENSP00000516369", "ENSEMBL:ENSP00000516369.1"], "information_content": 100.0}
{"id": "UniProtKB:P34998-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "corticotropin-releasing factor receptor 1 isoform hCRF-R1 (human)", "equivalent_identifiers": ["UniProtKB:P34998-1", "PR:P34998-1", "ENSEMBL:ENSP00000381333", "ENSEMBL:ENSP00000381333.3", "ENSEMBL:ENSP00000480396", "ENSEMBL:ENSP00000480396.1", "ENSEMBL:ENSP00000484387", "ENSEMBL:ENSP00000484387.1"], "information_content": 100.0}
{"id": "NCBIGene:346562", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNAT3", "equivalent_identifiers": ["NCBIGene:346562", "ENSEMBL:ENSG00000214415", "HGNC:22800", "OMIM:139395", "UMLS:C1427774", "UniProtKB:A8MTJ3", "PR:A8MTJ3", "ENSEMBL:ENSP00000381339", "ENSEMBL:ENSP00000381339.3"], "information_content": 92.8}
{"id": "UniProtKB:P36269-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione hydrolase 5 proenzyme isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P36269-3", "PR:P36269-3", "ENSEMBL:ENSP00000381340", "ENSEMBL:ENSP00000381340.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6J0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcineurin-binding protein cabin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6J0-1", "PR:Q9Y6J0-1", "ENSEMBL:ENSP00000263119", "ENSEMBL:ENSP00000263119.5", "ENSEMBL:ENSP00000381364", "ENSEMBL:ENSP00000381364.2"], "information_content": 100.0}
{"id": "NCBIGene:100526783", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARPIN-AP3S2", "equivalent_identifiers": ["NCBIGene:100526783", "ENSEMBL:ENSG00000250021", "HGNC:38824", "UMLS:C4762145", "UniProtKB:A0A0A6YYH1", "ENSEMBL:ENSP00000381377"]}
{"id": "NCBIGene:6925", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCF4", "equivalent_identifiers": ["NCBIGene:6925", "ENSEMBL:ENSG00000196628", "HGNC:11634", "OMIM:602272", "UMLS:C1420639", "UniProtKB:A0A1B0GW91", "ENSEMBL:ENSP00000490832", "ENSEMBL:ENSP00000490832.1", "UniProtKB:A0A1B0GWD5", "ENSEMBL:ENSP00000490883", "ENSEMBL:ENSP00000490883.1", "ENSEMBL:ENSP00000494380", "ENSEMBL:ENSP00000494380.1", "ENSEMBL:ENSP00000501758", "ENSEMBL:ENSP00000501758.1", "UniProtKB:B3KVA4", "UniProtKB:E9PH57", "ENSEMBL:ENSP00000381382", "ENSEMBL:ENSP00000381382.1", "UniProtKB:H3BPJ7", "ENSEMBL:ENSP00000455346", "ENSEMBL:ENSP00000455346.1", "UniProtKB:H3BTP3", "ENSEMBL:ENSP00000457263", "ENSEMBL:ENSP00000457263.1", "UniProtKB:P15884", "PR:P15884", "UMLS:C2746081", "MESH:C532096"]}
{"id": "UniProtKB:P30046-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D-dopachrome decarboxylase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30046-1", "PR:P30046-1", "ENSEMBL:ENSP00000215773", "ENSEMBL:ENSP00000215773.4", "ENSEMBL:ENSP00000381386", "ENSEMBL:ENSP00000381386.4", "ENSEMBL:ENSP00000481175", "ENSEMBL:ENSP00000481175.1", "ENSEMBL:ENSP00000486829", "ENSEMBL:ENSP00000486829.1"], "information_content": 100.0}
{"id": "NCBIGene:8545", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CGGBP1", "equivalent_identifiers": ["NCBIGene:8545", "ENSEMBL:ENSG00000163320", "HGNC:1888", "OMIM:603363", "UMLS:C1413369", "UniProtKB:Q9UFW8", "PR:Q9UFW8", "ENSEMBL:ENSP00000381428", "ENSEMBL:ENSP00000381428.2", "ENSEMBL:ENSP00000381429", "ENSEMBL:ENSP00000381429.2", "ENSEMBL:ENSP00000418769", "ENSEMBL:ENSP00000418769.1", "ENSEMBL:ENSP00000420374", "ENSEMBL:ENSP00000420374.1", "ENSEMBL:ENSP00000502581", "ENSEMBL:ENSP00000502581.1", "UMLS:C1308150", "MESH:C106905"], "information_content": 90.9}
{"id": "NCBIGene:4356", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MPP3", "equivalent_identifiers": ["NCBIGene:4356", "ENSEMBL:ENSG00000161647", "HGNC:7221", "OMIM:601114", "UMLS:C1334527", "UniProtKB:D3DX46", "ENSEMBL:ENSP00000381430", "ENSEMBL:ENSP00000381430.1", "UniProtKB:Q13368", "PR:Q13368", "UMLS:C0762540", "MESH:C116869"]}
{"id": "UniProtKB:A8MV65-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription cofactor vestigial-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A8MV65-1", "PR:A8MV65-1", "ENSEMBL:ENSP00000381436", "ENSEMBL:ENSP00000381436.2"], "information_content": 100.0}
{"id": "NCBIGene:1471", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CST3", "equivalent_identifiers": ["NCBIGene:1471", "ENSEMBL:ENSG00000101439", "HGNC:2475", "OMIM:604312", "UMLS:C1413772", "UniProtKB:A0A0K0K1J1", "UniProtKB:P01034", "PR:P01034", "ENSEMBL:ENSP00000366124", "ENSEMBL:ENSP00000366124.3", "ENSEMBL:ENSP00000381446", "ENSEMBL:ENSP00000381446.1", "ENSEMBL:ENSP00000381448", "ENSEMBL:ENSP00000381448.1", "UMLS:C1453113", "MESH:C525030"], "information_content": 80.6}
{"id": "MONDO:0004838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "orthostatic proteinuria", "equivalent_identifiers": ["MONDO:0004838", "DOID:9617", "UMLS:C0232867", "MEDDRA:10031124", "MEDDRA:10031129", "MEDDRA:10036435", "SNOMEDCT:32482005", "medgen:534880", "icd11.foundation:2144070055", "ICD10:R80.2", "ICD9:593.6"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y570-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase methylesterase 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y570-4", "PR:Q9Y570-4", "ENSEMBL:ENSP00000381461", "ENSEMBL:ENSP00000381461.4"], "information_content": 100.0}
{"id": "NCBIGene:613227", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HIGD1C", "equivalent_identifiers": ["NCBIGene:613227", "ENSEMBL:ENSG00000214511", "HGNC:28044", "OMIM:620803", "UMLS:C1825470", "UniProtKB:A8MV81", "PR:A8MV81", "ENSEMBL:ENSP00000381473", "ENSEMBL:ENSP00000381473.3", "ENSEMBL:ENSP00000512274", "ENSEMBL:ENSP00000512274.1"], "information_content": 100.0}
{"id": "NCBIGene:283471", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMPRSS12", "equivalent_identifiers": ["NCBIGene:283471", "ENSEMBL:ENSG00000186452", "HGNC:28779", "UMLS:C1540029", "UniProtKB:A0A140VJY1", "UniProtKB:Q86WS5", "PR:Q86WS5", "ENSEMBL:ENSP00000381476", "ENSEMBL:ENSP00000381476.3"], "information_content": 100.0}
{"id": "UniProtKB:Q08648-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sperm-associated antigen 11B isoform hEP2D (human)", "equivalent_identifiers": ["UniProtKB:Q08648-4", "PR:Q08648-4", "ENSEMBL:ENSP00000381480", "ENSEMBL:ENSP00000381480.2"], "information_content": 100.0}
{"id": "NCBIGene:344022", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOTO", "equivalent_identifiers": ["NCBIGene:344022", "ENSEMBL:ENSG00000214513", "HGNC:31839", "OMIM:620695", "UMLS:C1538482", "UniProtKB:A8MTQ0", "PR:A8MTQ0", "ENSEMBL:ENSP00000381486", "ENSEMBL:ENSP00000381486.3"], "information_content": 100.0}
{"id": "NCBIGene:728318", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP9-1", "equivalent_identifiers": ["NCBIGene:728318", "ENSEMBL:ENSG00000240542", "HGNC:18912", "UMLS:C1425880", "UniProtKB:A8MXZ3", "PR:A8MXZ3", "ENSEMBL:ENSP00000381488", "ENSEMBL:ENSP00000381488.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZY6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "linker for activation of T-cells family member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZY6-1", "PR:Q9GZY6-1", "ENSEMBL:ENSP00000275635", "ENSEMBL:ENSP00000275635.7", "ENSEMBL:ENSP00000344881", "ENSEMBL:ENSP00000344881.5", "ENSEMBL:ENSP00000381492", "ENSEMBL:ENSP00000381492.1", "ENSEMBL:ENSP00000420494", "ENSEMBL:ENSP00000420494.1"], "information_content": 100.0}
{"id": "NCBIGene:53834", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGFRL1", "equivalent_identifiers": ["NCBIGene:53834", "ENSEMBL:ENSG00000127418", "HGNC:3693", "OMIM:605830", "UMLS:C1364012", "UniProtKB:A0PJ49", "UniProtKB:Q8N441", "PR:Q8N441", "ENSEMBL:ENSP00000264748", "ENSEMBL:ENSP00000264748.6", "ENSEMBL:ENSP00000381498", "ENSEMBL:ENSP00000381498.2", "ENSEMBL:ENSP00000423091", "ENSEMBL:ENSP00000423091.1", "ENSEMBL:ENSP00000425025", "ENSEMBL:ENSP00000425025.1", "UMLS:C0962882", "MESH:C417531"], "information_content": 90.9}
{"id": "UniProtKB:P15863-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paired box protein Pax-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P15863-1", "PR:P15863-1", "ENSEMBL:ENSP00000381499", "ENSEMBL:ENSP00000381499.2"], "information_content": 100.0}
{"id": "UniProtKB:P11908-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribose-phosphate pyrophosphokinase 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P11908-2", "PR:P11908-2", "ENSEMBL:ENSP00000381504", "ENSEMBL:ENSP00000381504.2"], "information_content": 100.0}
{"id": "NCBIGene:1453", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSNK1D", "equivalent_identifiers": ["NCBIGene:1453", "ENSEMBL:ENSG00000141551", "HGNC:2452", "OMIM:600864", "UMLS:C1413755", "UniProtKB:H7BYT1", "ENSEMBL:ENSP00000381531", "ENSEMBL:ENSP00000381531.5", "UniProtKB:P48730", "PR:P48730", "UMLS:C4084846"]}
{"id": "NCBIGene:202374", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STK32A", "equivalent_identifiers": ["NCBIGene:202374", "ENSEMBL:ENSG00000169302", "HGNC:28317", "UMLS:C1539882", "UniProtKB:B7Z9H7", "ENSEMBL:ENSP00000381535", "ENSEMBL:ENSP00000381535.3", "UniProtKB:Q8WU08", "PR:Q8WU08"]}
{"id": "NCBIGene:440051", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP5-11", "equivalent_identifiers": ["NCBIGene:440051", "ENSEMBL:ENSG00000204571", "HGNC:23606", "UMLS:C1428154", "UniProtKB:Q6L8G4", "PR:Q6L8G4", "ENSEMBL:ENSP00000381541", "ENSEMBL:ENSP00000381541.1", "UMLS:C1956467"], "information_content": 100.0}
{"id": "NCBIGene:387273", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP5-10", "equivalent_identifiers": ["NCBIGene:387273", "ENSEMBL:ENSG00000204572", "HGNC:23605", "UMLS:C1428153", "UniProtKB:Q6L8G5", "PR:Q6L8G5", "ENSEMBL:ENSP00000381542", "ENSEMBL:ENSP00000381542.1", "UMLS:C1956466"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2L6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FERM domain-containing protein 4B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2L6-1", "PR:Q9Y2L6-1", "ENSEMBL:ENSP00000381549", "ENSEMBL:ENSP00000381549.3"], "information_content": 100.0}
{"id": "NCBIGene:220136", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP53", "equivalent_identifiers": ["NCBIGene:220136", "ENSEMBL:ENSG00000172361", "HGNC:26530", "OMIM:614759", "UMLS:C1539069", "UniProtKB:Q96M91", "PR:Q96M91", "ENSEMBL:ENSP00000381553", "ENSEMBL:ENSP00000381553.3", "UMLS:C4079649", "MESH:C000602814"], "information_content": 100.0}
{"id": "MONDO:0014993", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 8", "equivalent_identifiers": ["MONDO:0014993", "DOID:0080308", "OMIM:617258", "UMLS:C4310645", "medgen:934612"], "information_content": 100.0}
{"id": "MONDO:0014922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 7", "equivalent_identifiers": ["MONDO:0014922", "DOID:0080098", "OMIM:617114", "UMLS:C4310711", "medgen:934678"], "information_content": 100.0}
{"id": "UniProtKB:Q70CQ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 34 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q70CQ2-1", "PR:Q70CQ2-1", "ENSEMBL:ENSP00000381577", "ENSEMBL:ENSP00000381577.2"], "information_content": 100.0}
{"id": "UniProtKB:P13796-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plastin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P13796-1", "PR:P13796-1", "ENSEMBL:ENSP00000315757", "ENSEMBL:ENSP00000315757.2", "ENSEMBL:ENSP00000381581", "ENSEMBL:ENSP00000381581.1"], "information_content": 100.0}
{"id": "UniProtKB:O15393-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protease serine 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15393-2", "PR:O15393-2", "ENSEMBL:ENSP00000381588", "ENSEMBL:ENSP00000381588.3"], "information_content": 100.0}
{"id": "MONDO:0006982", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "subacute thyroiditis", "equivalent_identifiers": ["MONDO:0006982", "DOID:7165", "EFO:1001194", "UMLS:C0040149", "MESH:D013968", "MEDDRA:10012410", "MEDDRA:10018705", "MEDDRA:10042298", "MEDDRA:10043784", "NCIT:C35071", "NCIT:C35828", "SNOMEDCT:38727009", "SNOMEDCT:428041004", "medgen:21549", "icd11.foundation:1320394379", "ICD10:E06.1", "ICD9:245.1"], "information_content": 92.8}
{"id": "MONDO:0006896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peptic esophagitis", "equivalent_identifiers": ["MONDO:0006896", "DOID:13976", "EFO:1001095", "UMLS:C0014869", "MESH:D004942", "MEDDRA:10038262", "MEDDRA:10038263", "SNOMEDCT:57643001", "medgen:5028", "ICD9:530.11"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5H2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-A11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5H2-1", "PR:Q9Y5H2-1", "ENSEMBL:ENSP00000381589", "ENSEMBL:ENSP00000381589.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5F8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-B7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5F8-1", "PR:Q9Y5F8-1", "ENSEMBL:ENSP00000381594", "ENSEMBL:ENSP00000381594.3"], "information_content": 100.0}
{"id": "UniProtKB:P20591-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon-induced GTP-binding protein Mx1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P20591-1", "PR:P20591-1", "ENSEMBL:ENSP00000381599", "ENSEMBL:ENSP00000381599.3", "ENSEMBL:ENSP00000381601", "ENSEMBL:ENSP00000381601.2", "ENSEMBL:ENSP00000392151", "ENSEMBL:ENSP00000392151.2", "ENSEMBL:ENSP00000402215", "ENSEMBL:ENSP00000402215.2", "ENSEMBL:ENSP00000408498", "ENSEMBL:ENSP00000408498.2", "ENSEMBL:ENSP00000410523", "ENSEMBL:ENSP00000410523.2", "ENSEMBL:ENSP00000505029", "ENSEMBL:ENSP00000505029.1", "ENSEMBL:ENSP00000505047", "ENSEMBL:ENSP00000505047.1", "ENSEMBL:ENSP00000505051", "ENSEMBL:ENSP00000505051.1", "ENSEMBL:ENSP00000505189", "ENSEMBL:ENSP00000505189.1", "ENSEMBL:ENSP00000505457", "ENSEMBL:ENSP00000505457.1", "ENSEMBL:ENSP00000505489", "ENSEMBL:ENSP00000505489.1", "ENSEMBL:ENSP00000505630", "ENSEMBL:ENSP00000505630.1", "ENSEMBL:ENSP00000505657", "ENSEMBL:ENSP00000505657.1", "ENSEMBL:ENSP00000505669", "ENSEMBL:ENSP00000505669.1", "ENSEMBL:ENSP00000505781", "ENSEMBL:ENSP00000505781.1", "ENSEMBL:ENSP00000505874", "ENSEMBL:ENSP00000505874.1", "ENSEMBL:ENSP00000506047", "ENSEMBL:ENSP00000506047.1", "ENSEMBL:ENSP00000506062", "ENSEMBL:ENSP00000506062.1", "ENSEMBL:ENSP00000506183", "ENSEMBL:ENSP00000506183.1", "ENSEMBL:ENSP00000506199", "ENSEMBL:ENSP00000506199.1", "ENSEMBL:ENSP00000506220", "ENSEMBL:ENSP00000506220.1", "ENSEMBL:ENSP00000506270", "ENSEMBL:ENSP00000506270.1", "ENSEMBL:ENSP00000506348", "ENSEMBL:ENSP00000506348.1", "ENSEMBL:ENSP00000506372", "ENSEMBL:ENSP00000506372.1", "ENSEMBL:ENSP00000506395", "ENSEMBL:ENSP00000506395.1", "ENSEMBL:ENSP00000506481", "ENSEMBL:ENSP00000506481.1", "ENSEMBL:ENSP00000506512", "ENSEMBL:ENSP00000506512.1", "ENSEMBL:ENSP00000506690", "ENSEMBL:ENSP00000506690.1", "ENSEMBL:ENSP00000506712", "ENSEMBL:ENSP00000506712.1"], "information_content": 100.0}
{"id": "NCBIGene:2950", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSTP1", "equivalent_identifiers": ["NCBIGene:2950", "ENSEMBL:ENSG00000084207", "HGNC:4638", "OMIM:134660", "UMLS:C0919451", "UniProtKB:P09211", "PR:P09211", "ENSEMBL:ENSP00000381607", "ENSEMBL:ENSP00000381607.3", "UMLS:C0622841", "MESH:C496556", "UniProtKB:V9HWE9"], "information_content": 89.4}
{"id": "UniProtKB:Q9Y5H3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-A10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5H3-1", "PR:Q9Y5H3-1", "ENSEMBL:ENSP00000381611", "ENSEMBL:ENSP00000381611.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TC21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 596 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TC21-1", "PR:Q8TC21-1", "ENSEMBL:ENSP00000310033", "ENSEMBL:ENSP00000310033.4", "ENSEMBL:ENSP00000318719", "ENSEMBL:ENSP00000318719.3", "ENSEMBL:ENSP00000381613", "ENSEMBL:ENSP00000381613.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UN75-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin alpha-12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UN75-1", "PR:Q9UN75-1", "ENSEMBL:ENSP00000381628", "ENSEMBL:ENSP00000381628.2", "ENSEMBL:ENSP00000517169", "ENSEMBL:ENSP00000517169.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5S3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ciliary microtubule inner protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5S3-1", "PR:Q8N5S3-1", "ENSEMBL:ENSP00000381631", "ENSEMBL:ENSP00000381631.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5I1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin alpha-11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5I1-1", "PR:Q9Y5I1-1", "ENSEMBL:ENSP00000381636", "ENSEMBL:ENSP00000381636.3", "ENSEMBL:ENSP00000517166", "ENSEMBL:ENSP00000517166.1"], "information_content": 100.0}
{"id": "NCBIGene:7260", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIPR1", "equivalent_identifiers": ["NCBIGene:7260", "ENSEMBL:ENSG00000032389", "HGNC:12383", "OMIM:608998", "UMLS:C1336683", "UniProtKB:A8MUM1", "ENSEMBL:ENSP00000381652", "ENSEMBL:ENSP00000381652.4", "UniProtKB:Q53HC9", "PR:Q53HC9", "ENSEMBL:ENSP00000371559", "ENSEMBL:ENSP00000371559.4", "UMLS:C1308354", "MESH:C109558"]}
{"id": "UniProtKB:Q8TB92-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TB92-1", "PR:Q8TB92-1", "ENSEMBL:ENSP00000381654", "ENSEMBL:ENSP00000381654.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TEK3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEK3-2", "PR:Q8TEK3-2", "ENSEMBL:ENSP00000381657", "ENSEMBL:ENSP00000381657.3"], "information_content": 100.0}
{"id": "UniProtKB:Q4G148-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glucoside xylosyltransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4G148-1", "PR:Q4G148-1", "ENSEMBL:ENSP00000381666", "ENSEMBL:ENSP00000381666.3"], "information_content": 100.0}
{"id": "UniProtKB:A7E2V4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger SWIM domain-containing protein 8 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:A7E2V4-4", "PR:A7E2V4-4", "ENSEMBL:ENSP00000381693", "ENSEMBL:ENSP00000381693.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0F6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sharpin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0F6-1", "PR:Q9H0F6-1", "ENSEMBL:ENSP00000381698", "ENSEMBL:ENSP00000381698.2"], "information_content": 100.0}
{"id": "NCBIGene:10317", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B3GALT5", "equivalent_identifiers": ["NCBIGene:10317", "ENSEMBL:ENSG00000183778", "HGNC:920", "OMIM:604066", "UMLS:C1412715", "UniProtKB:A0A0A0MS93", "UMLS:C1433011", "MESH:C479886", "UniProtKB:Q9Y2C3", "PR:Q9Y2C3", "ENSEMBL:ENSP00000343318", "ENSEMBL:ENSP00000343318.4", "ENSEMBL:ENSP00000369992", "ENSEMBL:ENSP00000369992.1", "ENSEMBL:ENSP00000369994", "ENSEMBL:ENSP00000369994.3", "ENSEMBL:ENSP00000381699", "ENSEMBL:ENSP00000381699.4", "ENSEMBL:ENSP00000480285", "ENSEMBL:ENSP00000480285.1", "ENSEMBL:ENSP00000506797", "ENSEMBL:ENSP00000506797.1", "ENSEMBL:ENSP00000507285", "ENSEMBL:ENSP00000507285.1", "ENSEMBL:ENSP00000507453", "ENSEMBL:ENSP00000507453.1", "ENSEMBL:ENSP00000508165", "ENSEMBL:ENSP00000508165.1"], "information_content": 100.0}
{"id": "UniProtKB:P62837-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 D2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62837-1", "PR:P62837-1", "ENSEMBL:ENSP00000381717", "ENSEMBL:ENSP00000381717.3", "ENSEMBL:ENSP00000381718", "ENSEMBL:ENSP00000381718.4"], "information_content": 100.0}
{"id": "UniProtKB:P25705-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP synthase subunit alpha, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P25705-1", "PR:P25705-1", "ENSEMBL:ENSP00000282050", "ENSEMBL:ENSP00000282050.2", "ENSEMBL:ENSP00000381736", "ENSEMBL:ENSP00000381736.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6F1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein mono-ADP-ribosyltransferase PARP3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6F1-1", "PR:Q9Y6F1-1", "ENSEMBL:ENSP00000381740", "ENSEMBL:ENSP00000381740.4", "ENSEMBL:ENSP00000395951", "ENSEMBL:ENSP00000395951.2", "ENSEMBL:ENSP00000401511", "ENSEMBL:ENSP00000401511.1", "ENSEMBL:ENSP00000417396", "ENSEMBL:ENSP00000417396.2", "ENSEMBL:ENSP00000417625", "ENSEMBL:ENSP00000417625.2"], "information_content": 100.0}
{"id": "UniProtKB:O95985-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA topoisomerase 3-beta-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95985-1", "PR:O95985-1", "ENSEMBL:ENSP00000349705", "ENSEMBL:ENSP00000349705.5", "ENSEMBL:ENSP00000381773", "ENSEMBL:ENSP00000381773.2"], "information_content": 100.0}
{"id": "UniProtKB:O14788-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor ligand superfamily member 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14788-1", "PR:O14788-1", "ENSEMBL:ENSP00000381775", "ENSEMBL:ENSP00000381775.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N413-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 25 member 45 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N413-1", "PR:Q8N413-1", "ENSEMBL:ENSP00000381782", "ENSEMBL:ENSP00000381782.1", "ENSEMBL:ENSP00000435489", "ENSEMBL:ENSP00000435489.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5R6-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 33 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5R6-6", "PR:Q8N5R6-6", "ENSEMBL:ENSP00000381795", "ENSEMBL:ENSP00000381795.3", "ENSEMBL:ENSP00000500783", "ENSEMBL:ENSP00000500783.1"], "information_content": 100.0}
{"id": "MONDO:0006655", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic valve prolapse", "equivalent_identifiers": ["MONDO:0006655", "DOID:5232", "EFO:1000815", "UMLS:C0003505", "MESH:D001023", "MEDDRA:10057454", "medgen:1619", "HP:0025578"], "information_content": 100.0}
{"id": "UniProtKB:P61236-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein yippee-like 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P61236-2", "PR:P61236-2", "ENSEMBL:ENSP00000381821", "ENSEMBL:ENSP00000381821.1"], "information_content": 100.0}
{"id": "UniProtKB:O95486-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein transport protein Sec24A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95486-1", "PR:O95486-1", "ENSEMBL:ENSP00000381823", "ENSEMBL:ENSP00000381823.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZN18-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein AEBP2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZN18-1", "PR:Q6ZN18-1", "ENSEMBL:ENSP00000381840", "ENSEMBL:ENSP00000381840.3"], "information_content": 100.0}
{"id": "NCBIGene:25923", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATL3", "equivalent_identifiers": ["NCBIGene:25923", "ENSEMBL:ENSG00000184743", "HGNC:24526", "OMIM:609369", "UMLS:C1836273", "UniProtKB:B4DXC4", "UMLS:C2354844", "MESH:C529895", "UniProtKB:F5H6I7", "ENSEMBL:ENSP00000437593", "ENSEMBL:ENSP00000437593.1", "UniProtKB:Q6DD88", "PR:Q6DD88", "ENSEMBL:ENSP00000381844", "ENSEMBL:ENSP00000381844.3"], "information_content": 90.9}
{"id": "NCBIGene:642475", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MROH6", "equivalent_identifiers": ["NCBIGene:642475", "ENSEMBL:ENSG00000204839", "HGNC:27814", "UMLS:C3543625", "UniProtKB:A6NGR9", "PR:A6NGR9", "ENSEMBL:ENSP00000381857", "ENSEMBL:ENSP00000381857.3", "ENSEMBL:ENSP00000479227", "ENSEMBL:ENSP00000479227.1"], "information_content": 100.0}
{"id": "NCBIGene:100188893", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOMM6", "equivalent_identifiers": ["NCBIGene:100188893", "ENSEMBL:ENSG00000214736", "HGNC:34528", "OMIM:616168", "UMLS:C2680495", "UniProtKB:Q96B49", "PR:Q96B49", "ENSEMBL:ENSP00000381856", "ENSEMBL:ENSP00000381856.3", "ENSEMBL:ENSP00000381859", "ENSEMBL:ENSP00000381859.3"], "information_content": 95.4}
{"id": "UniProtKB:Q86T65-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disheveled-associated activator of morphogenesis 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86T65-3", "PR:Q86T65-3", "ENSEMBL:ENSP00000274867", "ENSEMBL:ENSP00000274867.4", "ENSEMBL:ENSP00000381876", "ENSEMBL:ENSP00000381876.2"], "information_content": 100.0}
{"id": "NCBIGene:3772", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNJ15", "equivalent_identifiers": ["NCBIGene:3772", "ENSEMBL:ENSG00000157551", "HGNC:6261", "OMIM:602106", "UMLS:C1416582", "UniProtKB:Q99712", "PR:Q99712", "ENSEMBL:ENSP00000331698", "ENSEMBL:ENSP00000331698.3", "ENSEMBL:ENSP00000381904", "ENSEMBL:ENSP00000381904.1", "ENSEMBL:ENSP00000381905", "ENSEMBL:ENSP00000381905.1", "ENSEMBL:ENSP00000381907", "ENSEMBL:ENSP00000381907.1", "ENSEMBL:ENSP00000381911", "ENSEMBL:ENSP00000381911.2", "ENSEMBL:ENSP00000479100", "ENSEMBL:ENSP00000479100.1", "ENSEMBL:ENSP00000484960", "ENSEMBL:ENSP00000484960.1", "UMLS:C0534757", "MESH:C103861"], "information_content": 95.4}
{"id": "UniProtKB:Q5TAT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XIII) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TAT6-1", "PR:Q5TAT6-1", "ENSEMBL:ENSP00000381949", "ENSEMBL:ENSP00000381949.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVT5-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinase suppressor of Ras 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVT5-4", "PR:Q8IVT5-4", "ENSEMBL:ENSP00000381958", "ENSEMBL:ENSP00000381958.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUV7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine palmitoyltransferase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUV7-1", "PR:Q9NUV7-1", "ENSEMBL:ENSP00000381968", "ENSEMBL:ENSP00000381968.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gypsy retrotransposon integrase-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXP7-1", "PR:Q9NXP7-1", "ENSEMBL:ENSP00000381970", "ENSEMBL:ENSP00000381970.2"], "information_content": 100.0}
{"id": "UniProtKB:P53804-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TTC3 isoform TPRDI (human)", "equivalent_identifiers": ["UniProtKB:P53804-1", "PR:P53804-1", "ENSEMBL:ENSP00000346791", "ENSEMBL:ENSP00000346791.2", "ENSEMBL:ENSP00000381981", "ENSEMBL:ENSP00000381981.2", "ENSEMBL:ENSP00000403943", "ENSEMBL:ENSP00000403943.2", "ENSEMBL:ENSP00000408456", "ENSEMBL:ENSP00000408456.2"], "information_content": 100.0}
{"id": "UniProtKB:O60716-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "catenin delta-1 isoform h1ABC (human)", "equivalent_identifiers": ["UniProtKB:O60716-1", "PR:O60716-1", "ENSEMBL:ENSP00000382004", "ENSEMBL:ENSP00000382004.5"], "information_content": 100.0}
{"id": "UniProtKB:P17028-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 24 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P17028-1", "PR:P17028-1", "ENSEMBL:ENSP00000261332", "ENSEMBL:ENSP00000261332.5", "ENSEMBL:ENSP00000382015", "ENSEMBL:ENSP00000382015.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UIC8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine carboxyl methyltransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIC8-1", "PR:Q9UIC8-1", "ENSEMBL:ENSP00000382021", "ENSEMBL:ENSP00000382021.3"], "information_content": 100.0}
{"id": "NCBIGene:729475", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAD51AP2", "equivalent_identifiers": ["NCBIGene:729475", "ENSEMBL:ENSG00000214842", "HGNC:34417", "UMLS:C2678590", "UniProtKB:Q09MP3", "PR:Q09MP3", "ENSEMBL:ENSP00000382030", "ENSEMBL:ENSP00000382030.2", "UMLS:C1870342", "MESH:C515554"], "information_content": 100.0}
{"id": "UniProtKB:P50747-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "biotin--protein ligase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P50747-1", "PR:P50747-1", "ENSEMBL:ENSP00000338387", "ENSEMBL:ENSP00000338387.3", "ENSEMBL:ENSP00000382071", "ENSEMBL:ENSP00000382071.1", "ENSEMBL:ENSP00000479939", "ENSEMBL:ENSP00000479939.1", "ENSEMBL:ENSP00000501750", "ENSEMBL:ENSP00000501750.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXS0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XXV) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXS0-1", "PR:Q9BXS0-1", "ENSEMBL:ENSP00000382083", "ENSEMBL:ENSP00000382083.1"], "information_content": 100.0}
{"id": "NCBIGene:23562", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN14", "equivalent_identifiers": ["NCBIGene:23562", "ENSEMBL:ENSG00000159261", "HGNC:2035", "OMIM:605608", "UMLS:C1413463", "UniProtKB:O95500", "PR:O95500", "ENSEMBL:ENSP00000339292", "ENSEMBL:ENSP00000339292.2", "ENSEMBL:ENSP00000382087", "ENSEMBL:ENSP00000382087.1", "ENSEMBL:ENSP00000382088", "ENSEMBL:ENSP00000382088.1", "ENSEMBL:ENSP00000382090", "ENSEMBL:ENSP00000382090.1", "ENSEMBL:ENSP00000382092", "ENSEMBL:ENSP00000382092.1", "UMLS:C1570902"], "information_content": 95.4}
{"id": "UniProtKB:Q6P6C2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA demethylase ALKBH5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6P6C2-2", "PR:Q6P6C2-2", "ENSEMBL:ENSP00000382091", "ENSEMBL:ENSP00000382091.4"], "information_content": 100.0}
{"id": "NCBIGene:728597", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCDC2C", "equivalent_identifiers": ["NCBIGene:728597", "ENSEMBL:ENSG00000214866", "HGNC:32696", "UMLS:C1824891", "UniProtKB:A8MYV0", "PR:A8MYV0", "ENSEMBL:ENSP00000382097", "ENSEMBL:ENSP00000382097.4"], "information_content": 100.0}
{"id": "MONDO:0011214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive familial intrahepatic cholestasis type 3", "equivalent_identifiers": ["MONDO:0011214", "DOID:0070223", "OMIM:602347", "orphanet:79305", "UMLS:C1865643", "MESH:C535935", "SNOMEDCT:1186865008", "medgen:356333", "icd11.foundation:1276600959"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3R5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein DOP1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3R5-1", "PR:Q9Y3R5-1", "ENSEMBL:ENSP00000382104", "ENSEMBL:ENSP00000382104.3", "ENSEMBL:ENSP00000509598", "ENSEMBL:ENSP00000509598.1"], "information_content": 100.0}
{"id": "MONDO:0006609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dandruff", "equivalent_identifiers": ["MONDO:0006609", "DOID:8941", "EFO:1000765", "UMLS:C0221244", "MESH:D063807", "MEDDRA:10011859", "MEDDRA:10039787", "MEDDRA:10039794", "MEDDRA:10072825", "MEDDRA:10072826", "SNOMEDCT:156329007", "SNOMEDCT:400201008", "ICD10:L21.0", "ICD9:690.11"], "information_content": 100.0}
{"id": "UniProtKB:Q96NN9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptosis-inducing factor 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NN9-1", "PR:Q96NN9-1", "ENSEMBL:ENSP00000382120", "ENSEMBL:ENSP00000382120.2", "ENSEMBL:ENSP00000390798", "ENSEMBL:ENSP00000390798.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H069-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein regulatory complex subunit 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H069-1", "PR:Q9H069-1", "ENSEMBL:ENSP00000382140", "ENSEMBL:ENSP00000382140.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVD3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SET domain-containing protein 4 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9NVD3-1", "PR:Q9NVD3-1", "ENSEMBL:ENSP00000329189", "ENSEMBL:ENSP00000329189.4", "ENSEMBL:ENSP00000382163", "ENSEMBL:ENSP00000382163.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4I1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-Va isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4I1-1", "PR:Q9Y4I1-1", "ENSEMBL:ENSP00000382177", "ENSEMBL:ENSP00000382177.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15652-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable JmjC domain-containing histone demethylation protein 2C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15652-1", "PR:Q15652-1", "ENSEMBL:ENSP00000382204", "ENSEMBL:ENSP00000382204.2"], "information_content": 100.0}
{"id": "NCBIGene:125150", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZSWIM7", "equivalent_identifiers": ["NCBIGene:125150", "ENSEMBL:ENSG00000214941", "HGNC:26993", "OMIM:614535", "UMLS:C2240224", "UniProtKB:Q19AV6", "PR:Q19AV6", "ENSEMBL:ENSP00000382218", "ENSEMBL:ENSP00000382218.1", "ENSEMBL:ENSP00000419138", "ENSEMBL:ENSP00000419138.1", "UMLS:C5690667", "MESH:C000722933"], "information_content": 100.0}
{"id": "DOID:0080410", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial adenomatous polyposis 2", "equivalent_identifiers": ["DOID:0080410", "ICD10:D12.6"]}
{"id": "NCBIGene:3753", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNE1", "equivalent_identifiers": ["NCBIGene:3753", "ENSEMBL:ENSG00000180509", "HGNC:6240", "OMIM:176261", "UMLS:C1416563", "UniProtKB:A7LFK2", "UniProtKB:A7LFK4", "UniProtKB:C7S316", "UniProtKB:P15382", "PR:P15382", "ENSEMBL:ENSP00000337255", "ENSEMBL:ENSP00000337255.3", "ENSEMBL:ENSP00000382225", "ENSEMBL:ENSP00000382225.1", "ENSEMBL:ENSP00000382226", "ENSEMBL:ENSP00000382226.2", "ENSEMBL:ENSP00000382228", "ENSEMBL:ENSP00000382228.3", "ENSEMBL:ENSP00000412498", "ENSEMBL:ENSP00000412498.1", "ENSEMBL:ENSP00000416258", "ENSEMBL:ENSP00000416258.2", "ENSEMBL:ENSP00000478215", "ENSEMBL:ENSP00000478215.1", "ENSEMBL:ENSP00000483895", "ENSEMBL:ENSP00000483895.1", "UMLS:C1451948", "MESH:C489622", "UniProtKB:Q6FHJ6"], "information_content": 95.4}
{"id": "MONDO:0004551", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meckel diverticulitis", "equivalent_identifiers": ["MONDO:0004551", "DOID:8408", "UMLS:C0267497", "MEDDRA:10013542", "MEDDRA:10027054", "NCIT:C27300", "SNOMEDCT:48241004", "medgen:75634", "icd11.foundation:543494453"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZUK4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 26 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZUK4-1", "PR:Q6ZUK4-1", "ENSEMBL:ENSP00000382237", "ENSEMBL:ENSP00000382237.3", "ENSEMBL:ENSP00000425286", "ENSEMBL:ENSP00000425286.1"], "information_content": 100.0}
{"id": "NCBIGene:389677", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBM12B", "equivalent_identifiers": ["NCBIGene:389677", "ENSEMBL:ENSG00000183808", "HGNC:32310", "UMLS:C1826775", "UniProtKB:Q8IXT5", "PR:Q8IXT5", "ENSEMBL:ENSP00000382239", "ENSEMBL:ENSP00000382239.2", "ENSEMBL:ENSP00000427729", "ENSEMBL:ENSP00000427729.2", "ENSEMBL:ENSP00000428269", "ENSEMBL:ENSP00000428269.2", "ENSEMBL:ENSP00000429807", "ENSEMBL:ENSP00000429807.2", "ENSEMBL:ENSP00000430474", "ENSEMBL:ENSP00000430474.2"], "information_content": 100.0}
{"id": "MONDO:0013608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 13", "equivalent_identifiers": ["MONDO:0013608", "DOID:0110982", "OMIM:614173", "UMLS:C3280031", "medgen:481661"], "information_content": 100.0}
{"id": "NCBIGene:64968", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPS6", "equivalent_identifiers": ["NCBIGene:64968", "ENSEMBL:ENSG00000243927", "HGNC:14051", "OMIM:611973", "UMLS:C1422375", "UniProtKB:P82932", "PR:P82932", "ENSEMBL:ENSP00000382250", "ENSEMBL:ENSP00000382250.2"], "information_content": 90.9}
{"id": "NCBIGene:25831", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HECTD1", "equivalent_identifiers": ["NCBIGene:25831", "ENSEMBL:ENSG00000092148", "HGNC:20157", "OMIM:618649", "UMLS:C1426741", "UniProtKB:A0A087X2H1", "ENSEMBL:ENSP00000484981", "ENSEMBL:ENSP00000484981.2", "UniProtKB:A0A8I5QJU2", "ENSEMBL:ENSP00000510470", "ENSEMBL:ENSP00000510470.1", "UniProtKB:H0YJD4", "ENSEMBL:ENSP00000451260", "ENSEMBL:ENSP00000451260.2", "UniProtKB:Q9ULT8", "PR:Q9ULT8", "ENSEMBL:ENSP00000382269", "ENSEMBL:ENSP00000382269.1", "ENSEMBL:ENSP00000450697", "ENSEMBL:ENSP00000450697.1"], "information_content": 83.1}
{"id": "NCBIGene:408050", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOMO3", "equivalent_identifiers": ["NCBIGene:408050", "ENSEMBL:ENSG00000103226", "HGNC:25242", "OMIM:609159", "UMLS:C1538479", "UniProtKB:J3KN36", "ENSEMBL:ENSP00000263012", "ENSEMBL:ENSP00000263012.6", "ENSEMBL:ENSP00000484978", "ENSEMBL:ENSP00000484978.1", "UMLS:C1569936", "MESH:C501109", "UniProtKB:P69849", "PR:P69849", "ENSEMBL:ENSP00000382274", "ENSEMBL:ENSP00000382274.4", "ENSEMBL:ENSP00000483234", "ENSEMBL:ENSP00000483234.1", "ENSEMBL:ENSP00000504325", "ENSEMBL:ENSP00000504325.1", "ENSEMBL:ENSP00000504575", "ENSEMBL:ENSP00000504575.1", "UniProtKB:Q1LZN2"], "information_content": 80.9}
{"id": "MONDO:0014145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 17", "equivalent_identifiers": ["MONDO:0014145", "DOID:0110217", "OMIM:615360", "UMLS:C3715164", "medgen:811616"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZRI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "otogelin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZRI0-1", "PR:Q6ZRI0-1", "ENSEMBL:ENSP00000382323", "ENSEMBL:ENSP00000382323.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRG7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epimerase family protein SDR39U1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRG7-2", "PR:Q9NRG7-2", "ENSEMBL:ENSP00000382327", "ENSEMBL:ENSP00000382327.3"], "information_content": 100.0}
{"id": "MONDO:0007788", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertriglyceridemia 1", "equivalent_identifiers": ["MONDO:0007788", "DOID:1172", "OMIM:144600", "OMIM:145750", "UMLS:C0020480", "UMLS:C5444012", "MESH:D006953", "MEDDRA:10017347", "MEDDRA:10037541", "MEDDRA:10037542", "MEDDRA:10045267", "MEDDRA:10054678", "MEDDRA:10059183", "MEDDRA:10059191", "MEDDRA:10059965", "MEDDRA:10060753", "MEDDRA:10060754", "MEDDRA:10064616", "MEDDRA:10064709", "NCIT:C34711", "SNOMEDCT:129589009", "SNOMEDCT:238085009", "SNOMEDCT:267433009", "SNOMEDCT:34528009", "medgen:1787149", "ICD10:E78.1", "ICD9:272.1"], "information_content": 100.0}
{"id": "NCBIGene:5673", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSG5", "equivalent_identifiers": ["NCBIGene:5673", "ENSEMBL:ENSG00000204941", "HGNC:9522", "OMIM:176394", "UMLS:C1418997", "UniProtKB:Q15238", "PR:Q15238", "ENSEMBL:ENSP00000344413", "ENSEMBL:ENSP00000344413.6", "ENSEMBL:ENSP00000382334", "ENSEMBL:ENSP00000382334.2", "ENSEMBL:ENSP00000386008", "ENSEMBL:ENSP00000386008.1", "UMLS:C1432033", "MESH:C418982"], "information_content": 92.8}
{"id": "NCBIGene:5875", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RABGGTA", "equivalent_identifiers": ["NCBIGene:5875", "ENSEMBL:ENSG00000100949", "HGNC:9795", "OMIM:601905", "UMLS:C1419222", "UniProtKB:Q92696", "PR:Q92696", "ENSEMBL:ENSP00000216840", "ENSEMBL:ENSP00000216840.6", "ENSEMBL:ENSP00000382341", "ENSEMBL:ENSP00000382341.3", "ENSEMBL:ENSP00000494636", "ENSEMBL:ENSP00000494636.1", "ENSEMBL:ENSP00000496595", "ENSEMBL:ENSP00000496595.1"], "information_content": 90.9}
{"id": "UniProtKB:P33527-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multidrug resistance-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P33527-1", "PR:P33527-1", "ENSEMBL:ENSP00000382342", "ENSEMBL:ENSP00000382342.3", "ENSEMBL:ENSP00000483316", "ENSEMBL:ENSP00000483316.1"], "information_content": 100.0}
{"id": "NCBIGene:341392", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACSM4", "equivalent_identifiers": ["NCBIGene:341392", "ENSEMBL:ENSG00000215009", "HGNC:32016", "OMIM:614360", "UMLS:C2240362", "UniProtKB:P0C7M7", "PR:P0C7M7", "ENSEMBL:ENSP00000382349", "ENSEMBL:ENSP00000382349.4", "UMLS:C3849337", "MESH:C587198"], "information_content": 92.8}
{"id": "MONDO:0009387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial lipoprotein lipase deficiency", "equivalent_identifiers": ["MONDO:0009387", "DOID:14118", "OMIM:238600", "orphanet:309015", "UMLS:C0023817", "UMLS:C1969232", "MESH:D008072", "MEDDRA:10064612", "MEDDRA:10064705", "MEDDRA:10084113", "NCIT:C84771", "SNOMEDCT:267435002", "SNOMEDCT:275598004", "SNOMEDCT:403827000", "medgen:7352", "icd11.foundation:1829539217", "ICD9:272.3"], "information_content": 100.0}
{"id": "UniProtKB:Q2UY09-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XXVIII) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2UY09-1", "PR:Q2UY09-1", "ENSEMBL:ENSP00000382356", "ENSEMBL:ENSP00000382356.3"], "information_content": 100.0}
{"id": "UniProtKB:O15084-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15084-3", "PR:O15084-3", "ENSEMBL:ENSP00000382379", "ENSEMBL:ENSP00000382379.2", "ENSEMBL:ENSP00000397341", "ENSEMBL:ENSP00000397341.1"], "information_content": 100.0}
{"id": "MONDO:0007266", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 2", "equivalent_identifiers": ["MONDO:0007266", "DOID:0110308", "OMIM:115195", "UMLS:C1861864", "MESH:C566171", "NCIT:C142892", "medgen:349383"], "information_content": 100.0}
{"id": "UniProtKB:Q96K76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 47 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96K76-1", "PR:Q96K76-1", "ENSEMBL:ENSP00000382382", "ENSEMBL:ENSP00000382382.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96JN8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuralized-like protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JN8-1", "PR:Q96JN8-1", "ENSEMBL:ENSP00000382390", "ENSEMBL:ENSP00000382390.2", "ENSEMBL:ENSP00000500916", "ENSEMBL:ENSP00000500916.1"], "information_content": 100.0}
{"id": "NCBIGene:4214", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAP3K1", "equivalent_identifiers": ["NCBIGene:4214", "ENSEMBL:ENSG00000095015", "HGNC:6848", "OMIM:600982", "UMLS:C1367675", "UniProtKB:Q13233", "PR:Q13233", "ENSEMBL:ENSP00000382423", "ENSEMBL:ENSP00000382423.3", "UMLS:C1367798", "MESH:C482576"], "information_content": 84.8}
{"id": "UniProtKB:Q3MJ16-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic phospholipase A2 epsilon isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3MJ16-3", "PR:Q3MJ16-3", "ENSEMBL:ENSP00000382434", "ENSEMBL:ENSP00000382434.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6P5X5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptic plasticity regulator PANTS isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P5X5-1", "PR:Q6P5X5-1", "ENSEMBL:ENSP00000382474", "ENSEMBL:ENSP00000382474.5"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z745-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "maestro heat-like repeat-containing protein family member 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z745-1", "PR:Q7Z745-1", "ENSEMBL:ENSP00000382476", "ENSEMBL:ENSP00000382476.4"], "information_content": 100.0}
{"id": "NCBIGene:58503", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OPRPN", "equivalent_identifiers": ["NCBIGene:58503", "ENSEMBL:ENSG00000171199", "HGNC:17279", "OMIM:608936", "UMLS:C1424870", "UniProtKB:Q99935", "PR:Q99935", "ENSEMBL:ENSP00000382485", "ENSEMBL:ENSP00000382485.2"], "information_content": 100.0}
{"id": "NCBIGene:137886", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBXN2B", "equivalent_identifiers": ["NCBIGene:137886", "ENSEMBL:ENSG00000215114", "HGNC:27035", "OMIM:610686", "UMLS:C1853155", "UniProtKB:E5RJ36", "ENSEMBL:ENSP00000428314", "ENSEMBL:ENSP00000428314.1", "UniProtKB:Q14CS0", "PR:Q14CS0", "ENSEMBL:ENSP00000382507", "ENSEMBL:ENSP00000382507.2"], "information_content": 92.8}
{"id": "UniProtKB:Q9H305-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell death-inducing p53-target protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H305-1", "PR:Q9H305-1", "ENSEMBL:ENSP00000382508", "ENSEMBL:ENSP00000382508.2", "ENSEMBL:ENSP00000454994", "ENSEMBL:ENSP00000454994.1", "ENSEMBL:ENSP00000457877", "ENSEMBL:ENSP00000457877.1", "ENSEMBL:ENSP00000480842", "ENSEMBL:ENSP00000480842.1", "ENSEMBL:ENSP00000488066", "ENSEMBL:ENSP00000488066.1", "ENSEMBL:ENSP00000488474", "ENSEMBL:ENSP00000488474.1"], "information_content": 100.0}
{"id": "MONDO:0010995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 1C", "equivalent_identifiers": ["MONDO:0010995", "DOID:0110151", "OMIM:601098", "orphanet:101083", "UMLS:C0270913", "MESH:C537984", "SNOMEDCT:4183003", "medgen:75728", "icd11.foundation:1224517226"], "information_content": 100.0}
{"id": "MONDO:0000486", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "craniofacial dystonia", "equivalent_identifiers": ["MONDO:0000486", "DOID:0050845", "UMLS:C1851915", "UMLS:C4023011", "UMLS:C4072883", "medgen:868612", "HP:0012179"], "information_content": 87.2}
{"id": "UniProtKB:O14628-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 195 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14628-1", "PR:O14628-1", "ENSEMBL:ENSP00000382511", "ENSEMBL:ENSP00000382511.4"], "information_content": 100.0}
{"id": "UniProtKB:Q86TD4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sarcalumenin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86TD4-2", "PR:Q86TD4-2", "ENSEMBL:ENSP00000382518", "ENSEMBL:ENSP00000382518.3"], "information_content": 100.0}
{"id": "NCBIGene:23617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSSK2", "equivalent_identifiers": ["NCBIGene:23617", "ENSEMBL:ENSG00000206203", "HGNC:11401", "OMIM:610710", "UMLS:C1540103", "UniProtKB:A0ZT99", "UMLS:C1566822", "MESH:C497812", "UniProtKB:Q96PF2", "PR:Q96PF2", "ENSEMBL:ENSP00000382544", "ENSEMBL:ENSP00000382544.2"], "information_content": 95.4}
{"id": "NCBIGene:439915", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP5-5", "equivalent_identifiers": ["NCBIGene:439915", "ENSEMBL:ENSG00000185940", "HGNC:23601", "UMLS:C1428149", "UniProtKB:A0A0G2JS28", "ENSEMBL:ENSP00000487288", "ENSEMBL:ENSP00000487288.1", "UMLS:C1956461", "UniProtKB:Q701N2", "PR:Q701N2", "ENSEMBL:ENSP00000382584", "ENSEMBL:ENSP00000382584.2", "ENSEMBL:ENSP00000481348", "ENSEMBL:ENSP00000481348.1", "ENSEMBL:ENSP00000516916", "ENSEMBL:ENSP00000516916.1"], "information_content": 100.0}
{"id": "NCBIGene:387267", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP5-4", "equivalent_identifiers": ["NCBIGene:387267", "ENSEMBL:ENSG00000241598", "HGNC:23599", "UMLS:C1428147", "UniProtKB:A8MUN0", "ENSEMBL:ENSP00000382590", "ENSEMBL:ENSP00000382590.1", "ENSEMBL:ENSP00000486418", "ENSEMBL:ENSP00000486418.1", "ENSEMBL:ENSP00000516914", "ENSEMBL:ENSP00000516914.1", "UniProtKB:Q6L8H1", "PR:Q6L8H1", "ENSEMBL:ENSP00000486225", "ENSEMBL:ENSP00000486225.1"]}
{"id": "UniProtKB:P22234-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P22234-2", "PR:P22234-2", "ENSEMBL:ENSP00000382595", "ENSEMBL:ENSP00000382595.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVF6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 18A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVF6-1", "PR:Q8IVF6-1", "ENSEMBL:ENSP00000382610", "ENSEMBL:ENSP00000382610.4"], "information_content": 100.0}
{"id": "UniProtKB:Q99708-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA endonuclease RBBP8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99708-1", "PR:Q99708-1", "ENSEMBL:ENSP00000323050", "ENSEMBL:ENSP00000323050.5", "ENSEMBL:ENSP00000382628", "ENSEMBL:ENSP00000382628.2"], "information_content": 100.0}
{"id": "UniProtKB:A8MTA8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ciliary microtubule inner protein 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A8MTA8-1", "PR:A8MTA8-1", "ENSEMBL:ENSP00000382646", "ENSEMBL:ENSP00000382646.2"], "information_content": 100.0}
{"id": "MONDO:0859305", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurodevelopmental disorder with eye movement abnormalities and ataxia", "equivalent_identifiers": ["MONDO:0859305", "DOID:0081275", "OMIM:620094", "UMLS:C5774241", "medgen:1824014"], "information_content": 100.0}
{"id": "MONDO:0019193", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired generalized lipodystrophy", "equivalent_identifiers": ["MONDO:0019193", "DOID:0080300", "orphanet:79086", "UMLS:C0271693", "MEDDRA:10087376", "MEDDRA:10087379", "NCIT:C131089", "SNOMEDCT:86907008", "medgen:543499"], "information_content": 100.0}
{"id": "NCBIGene:389207", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRXCR1", "equivalent_identifiers": ["NCBIGene:389207", "ENSEMBL:ENSG00000215203", "HGNC:31673", "OMIM:613283", "UMLS:C2681555", "UniProtKB:A8MXD5", "PR:A8MXD5", "ENSEMBL:ENSP00000382670", "ENSEMBL:ENSP00000382670.2", "UMLS:C2932480", "MESH:C547810"], "information_content": 95.4}
{"id": "UniProtKB:Q6UWT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adropin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWT2-1", "PR:Q6UWT2-1", "ENSEMBL:ENSP00000382675", "ENSEMBL:ENSP00000382675.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCY5-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanocortin-2 receptor accessory protein isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCY5-4", "PR:Q8TCY5-4", "ENSEMBL:ENSP00000306697", "ENSEMBL:ENSP00000306697.5", "ENSEMBL:ENSP00000382684", "ENSEMBL:ENSP00000382684.2"], "information_content": 100.0}
{"id": "MONDO:0001038", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "perforated corneal ulcer", "equivalent_identifiers": ["MONDO:0001038", "DOID:10445", "UMLS:C0151844", "MEDDRA:10034387", "MEDDRA:10045296", "SNOMEDCT:46606001", "medgen:508831", "icd11.foundation:232838320", "ICD10:H16.07", "ICD9:370.06"], "information_content": 100.0}
{"id": "DOID:0110915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood hypophosphatasia", "equivalent_identifiers": ["DOID:0110915"]}
{"id": "UniProtKB:P29375-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase 5A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P29375-1", "PR:P29375-1", "ENSEMBL:ENSP00000382688", "ENSEMBL:ENSP00000382688.2"], "information_content": 100.0}
{"id": "NCBIGene:6093", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ROCK1", "equivalent_identifiers": ["NCBIGene:6093", "ENSEMBL:ENSG00000067900", "HGNC:10251", "OMIM:601702", "UMLS:C1335631", "UniProtKB:Q13464", "PR:Q13464", "ENSEMBL:ENSP00000382697", "ENSEMBL:ENSP00000382697.1", "UMLS:C1335632", "MESH:C515851"], "information_content": 86.3}
{"id": "NCBIGene:10410", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFITM3", "equivalent_identifiers": ["NCBIGene:10410", "ENSEMBL:ENSG00000142089", "HGNC:5414", "OMIM:605579", "UMLS:C1415898", "UniProtKB:Q01628", "PR:Q01628", "ENSEMBL:ENSP00000382707", "ENSEMBL:ENSP00000382707.4", "UMLS:C0657733", "UMLS:C5444077", "MESH:C080082"], "information_content": 92.8}
{"id": "NCBIGene:134121", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP90", "equivalent_identifiers": ["NCBIGene:134121", "ENSEMBL:ENSG00000215217", "HGNC:27028", "UMLS:C2681234", "UniProtKB:A4QMS7", "PR:A4QMS7", "ENSEMBL:ENSP00000382708", "ENSEMBL:ENSP00000382708.2"], "information_content": 100.0}
{"id": "NCBIGene:134111", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2QL1", "equivalent_identifiers": ["NCBIGene:134111", "ENSEMBL:ENSG00000215218", "HGNC:37269", "OMIM:615832", "UMLS:C2828998", "UniProtKB:A1L167", "PR:A1L167", "ENSEMBL:ENSP00000382713", "ENSEMBL:ENSP00000382713.3", "ENSEMBL:ENSP00000517282", "ENSEMBL:ENSP00000517282.1", "UMLS:C3852223", "MESH:C000588845"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEZ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEZ3-1", "PR:Q8NEZ3-1", "ENSEMBL:ENSP00000382717", "ENSEMBL:ENSP00000382717.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZK5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenosine deaminase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZK5-1", "PR:Q9NZK5-1", "ENSEMBL:ENSP00000262607", "ENSEMBL:ENSP00000262607.2", "ENSEMBL:ENSP00000382731", "ENSEMBL:ENSP00000382731.2", "ENSEMBL:ENSP00000382733", "ENSEMBL:ENSP00000382733.1", "ENSEMBL:ENSP00000442482", "ENSEMBL:ENSP00000442482.2", "ENSEMBL:ENSP00000496839", "ENSEMBL:ENSP00000496839.2", "ENSEMBL:ENSP00000497913", "ENSEMBL:ENSP00000497913.2", "ENSEMBL:ENSP00000512479", "ENSEMBL:ENSP00000512479.1", "ENSEMBL:ENSP00000512480", "ENSEMBL:ENSP00000512480.1", "ENSEMBL:ENSP00000512491", "ENSEMBL:ENSP00000512491.1"], "information_content": 100.0}
{"id": "UniProtKB:Q68CR1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein sel-1 homolog 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68CR1-1", "PR:Q68CR1-1", "ENSEMBL:ENSP00000382767", "ENSEMBL:ENSP00000382767.3"], "information_content": 100.0}
{"id": "NCBIGene:157855", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNU1", "equivalent_identifiers": ["NCBIGene:157855", "ENSEMBL:ENSG00000215262", "HGNC:18867", "OMIM:615215", "UMLS:C1425838", "UniProtKB:A8MYU2", "PR:A8MYU2", "ENSEMBL:ENSP00000382770", "ENSEMBL:ENSP00000382770.3", "UMLS:C3658119", "MESH:C577767"], "information_content": 95.4}
{"id": "UniProtKB:Q96EE3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleoporin SEH1 isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q96EE3-1", "PR:Q96EE3-1", "ENSEMBL:ENSP00000382779", "ENSEMBL:ENSP00000382779.1"], "information_content": 100.0}
{"id": "NCBIGene:9073", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN8", "equivalent_identifiers": ["NCBIGene:9073", "ENSEMBL:ENSG00000156284", "HGNC:2050", "OMIM:611231", "UMLS:C1413478", "UniProtKB:A0A0K0K1I9", "UMLS:C1570907", "UniProtKB:P56748", "PR:P56748", "ENSEMBL:ENSP00000382783", "ENSEMBL:ENSP00000382783.1"], "information_content": 95.4}
{"id": "NCBIGene:100507650", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF212B", "equivalent_identifiers": ["NCBIGene:100507650", "ENSEMBL:ENSG00000215277", "HGNC:20438", "OMIM:621020", "UMLS:C3890123", "UniProtKB:A8MTL3", "PR:A8MTL3", "ENSEMBL:ENSP00000382794", "ENSEMBL:ENSP00000382794.1", "ENSEMBL:ENSP00000397830", "ENSEMBL:ENSP00000397830.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13761-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "runt-related transcription factor 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13761-2", "PR:Q13761-2", "ENSEMBL:ENSP00000343477", "ENSEMBL:ENSP00000343477.3", "ENSEMBL:ENSP00000382800", "ENSEMBL:ENSP00000382800.1"], "information_content": 100.0}
{"id": "NCBIGene:571", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BACH1", "equivalent_identifiers": ["NCBIGene:571", "ENSEMBL:ENSG00000156273", "HGNC:935", "OMIM:602751", "UMLS:C1412729", "UniProtKB:O14867", "PR:O14867", "ENSEMBL:ENSP00000286800", "ENSEMBL:ENSP00000286800.3", "ENSEMBL:ENSP00000382805", "ENSEMBL:ENSP00000382805.1", "UMLS:C1307830", "MESH:C102108"], "information_content": 79.6}
{"id": "UniProtKB:Q9H0X4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM234A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0X4-1", "PR:Q9H0X4-1", "ENSEMBL:ENSP00000301678", "ENSEMBL:ENSP00000301678.3", "ENSEMBL:ENSP00000382814", "ENSEMBL:ENSP00000382814.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5HYC2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized bromodomain-containing protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5HYC2-1", "PR:Q5HYC2-1", "ENSEMBL:ENSP00000382815", "ENSEMBL:ENSP00000382815.3"], "information_content": 100.0}
{"id": "NCBIGene:139604", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEB16", "equivalent_identifiers": ["NCBIGene:139604", "ENSEMBL:ENSG00000189023", "HGNC:21188", "OMIM:300762", "UMLS:C1537638", "UniProtKB:A2A368", "PR:A2A368", "ENSEMBL:ENSP00000382867", "ENSEMBL:ENSP00000382867.1", "ENSEMBL:ENSP00000382869", "ENSEMBL:ENSP00000382869.1", "ENSEMBL:ENSP00000382870", "ENSEMBL:ENSP00000382870.1", "ENSEMBL:ENSP00000382871", "ENSEMBL:ENSP00000382871.1"], "information_content": 100.0}
{"id": "NCBIGene:645864", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEB17", "equivalent_identifiers": ["NCBIGene:645864", "ENSEMBL:ENSG00000182798", "HGNC:17418", "OMIM:300763", "UMLS:C1537639", "UniProtKB:A8MXT2", "PR:A8MXT2", "ENSEMBL:ENSP00000382883", "ENSEMBL:ENSP00000382883.1", "ENSEMBL:ENSP00000382884", "ENSEMBL:ENSP00000382884.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96KN7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96KN7-1", "PR:Q96KN7-1", "ENSEMBL:ENSP00000382895", "ENSEMBL:ENSP00000382895.2"], "information_content": 100.0}
{"id": "NCBIGene:2558", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABRA5", "equivalent_identifiers": ["NCBIGene:2558", "ENSEMBL:ENSG00000186297", "HGNC:4079", "OMIM:137142", "UMLS:C1414912", "UniProtKB:P31644", "PR:P31644", "ENSEMBL:ENSP00000335592", "ENSEMBL:ENSP00000335592.5", "ENSEMBL:ENSP00000347557", "ENSEMBL:ENSP00000347557.5", "ENSEMBL:ENSP00000382953", "ENSEMBL:ENSP00000382953.3", "UMLS:C2352826", "MESH:C527986"], "information_content": 95.4}
{"id": "UniProtKB:Q8NA19-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lethal(3)malignant brain tumor-like protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NA19-1", "PR:Q8NA19-1", "ENSEMBL:ENSP00000382976", "ENSEMBL:ENSP00000382976.2"], "information_content": 100.0}
{"id": "UniProtKB:P0DPH7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin alpha-3C chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0DPH7-1", "PR:P0DPH7-1", "ENSEMBL:ENSP00000382982", "ENSEMBL:ENSP00000382982.3"], "information_content": 100.0}
{"id": "NCBIGene:100132396", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF705B", "equivalent_identifiers": ["NCBIGene:100132396", "ENSEMBL:ENSG00000215356", "HGNC:32284", "UMLS:C1824005", "UniProtKB:P0CI00", "PR:P0CI00", "ENSEMBL:ENSP00000382987", "ENSEMBL:ENSP00000382987.3"], "information_content": 100.0}
{"id": "MONDO:0859592", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IDH-mutant and 1p/19q-codeleted oligodendroglioma", "equivalent_identifiers": ["MONDO:0859592", "DOID:0080882", "UMLS:C4288558", "UMLS:C4289979", "NCIT:C129318", "NCIT:C129321", "medgen:926090"], "information_content": 86.3}
{"id": "NCBIGene:2280", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FKBP1A", "equivalent_identifiers": ["NCBIGene:2280", "ENSEMBL:ENSG00000088832", "HGNC:3711", "OMIM:186945", "UMLS:C1414618", "UniProtKB:A0A087WTS4", "ENSEMBL:ENSP00000478093", "ENSEMBL:ENSP00000478093.1", "UniProtKB:P62942", "PR:P62942", "ENSEMBL:ENSP00000371138", "ENSEMBL:ENSP00000371138.3", "ENSEMBL:ENSP00000371143", "ENSEMBL:ENSP00000371143.4", "ENSEMBL:ENSP00000383003", "ENSEMBL:ENSP00000383003.4", "ENSEMBL:ENSP00000503033", "ENSEMBL:ENSP00000503033.1", "ENSEMBL:ENSP00000503152", "ENSEMBL:ENSP00000503152.1", "UMLS:C2934980", "MESH:C550432", "UniProtKB:Q0VDC6"], "information_content": 92.8}
{"id": "UniProtKB:O60341-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific histone demethylase 1A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60341-2", "PR:O60341-2", "ENSEMBL:ENSP00000383042", "ENSEMBL:ENSP00000383042.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHP3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 25 isoform hUSP25m (human)", "equivalent_identifiers": ["UniProtKB:Q9UHP3-3", "PR:Q9UHP3-3", "ENSEMBL:ENSP00000383044", "ENSEMBL:ENSP00000383044.2"], "information_content": 100.0}
{"id": "UniProtKB:P29323-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin type-B receptor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P29323-1", "PR:P29323-1", "ENSEMBL:ENSP00000383053", "ENSEMBL:ENSP00000383053.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWB6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arginine and glutamate-rich protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWB6-1", "PR:Q9NWB6-1", "ENSEMBL:ENSP00000383059", "ENSEMBL:ENSP00000383059.3"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000383067", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000383067", "equivalent_identifiers": ["ENSEMBL:ENSP00000383067"]}
{"id": "UniProtKB:O75678-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ret finger protein-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75678-1", "PR:O75678-1", "ENSEMBL:ENSP00000248983", "ENSEMBL:ENSP00000248983.5", "ENSEMBL:ENSP00000383096", "ENSEMBL:ENSP00000383096.1", "ENSEMBL:ENSP00000498332", "ENSEMBL:ENSP00000498332.1"], "information_content": 100.0}
{"id": "NCBIGene:81035", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COLEC12", "equivalent_identifiers": ["NCBIGene:81035", "ENSEMBL:ENSG00000158270", "HGNC:16016", "OMIM:607621", "UMLS:C1423911", "UniProtKB:Q5KU26", "PR:Q5KU26", "ENSEMBL:ENSP00000383115", "ENSEMBL:ENSP00000383115.3", "UMLS:C1099816", "MESH:C422442"], "information_content": 84.8}
{"id": "UniProtKB:A8K8P3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SFI1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A8K8P3-1", "PR:A8K8P3-1", "ENSEMBL:ENSP00000383145", "ENSEMBL:ENSP00000383145.2"], "information_content": 100.0}
{"id": "MONDO:0010502", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 99, syndromic, female-restricted", "equivalent_identifiers": ["MONDO:0010502", "DOID:0112025", "OMIM:300968", "UMLS:C4225416", "medgen:899839"], "information_content": 100.0}
{"id": "UniProtKB:P57721-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly(rC)-binding protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P57721-1", "PR:P57721-1", "ENSEMBL:ENSP00000383168", "ENSEMBL:ENSP00000383168.1", "ENSEMBL:ENSP00000505796", "ENSEMBL:ENSP00000505796.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSV4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein diaphanous homolog 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSV4-3", "PR:Q9NSV4-3", "ENSEMBL:ENSP00000383178", "ENSEMBL:ENSP00000383178.3"], "information_content": 100.0}
{"id": "NCBIGene:346389", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MACC1", "equivalent_identifiers": ["NCBIGene:346389", "ENSEMBL:ENSG00000183742", "HGNC:30215", "OMIM:612646", "UMLS:C2675234", "UniProtKB:Q6ZN28", "PR:Q6ZN28", "ENSEMBL:ENSP00000328410", "ENSEMBL:ENSP00000328410.4", "ENSEMBL:ENSP00000383185", "ENSEMBL:ENSP00000383185.3", "ENSEMBL:ENSP00000466864", "ENSEMBL:ENSP00000466864.1", "UMLS:C2742157", "MESH:C544162"], "information_content": 92.8}
{"id": "UniProtKB:Q96PU5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase NEDD4-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PU5-1", "PR:Q96PU5-1", "ENSEMBL:ENSP00000383199", "ENSEMBL:ENSP00000383199.2"], "information_content": 100.0}
{"id": "MONDO:0014756", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tremor, hereditary essential, 5", "equivalent_identifiers": ["MONDO:0014756", "DOID:0111432", "OMIM:616736", "UMLS:C4225223", "medgen:897748"], "information_content": 100.0}
{"id": "UniProtKB:Q2NKQ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small G protein signaling modulator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2NKQ1-1", "PR:Q2NKQ1-1", "ENSEMBL:ENSP00000383212", "ENSEMBL:ENSP00000383212.4"], "information_content": 100.0}
{"id": "MONDO:0014295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 57", "equivalent_identifiers": ["MONDO:0014295", "DOID:0110809", "OMIM:615658", "orphanet:431329", "EFO:0009017", "UMLS:C3714897", "SNOMEDCT:723826007", "medgen:811490"], "information_content": 100.0}
{"id": "NCBIGene:386674", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP10-6", "equivalent_identifiers": ["NCBIGene:386674", "ENSEMBL:ENSG00000188155", "HGNC:20523", "UMLS:C1537509", "UniProtKB:P60371", "PR:P60371", "ENSEMBL:ENSP00000383219", "ENSEMBL:ENSP00000383219.1"], "information_content": 100.0}
{"id": "NCBIGene:386680", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP10-5", "equivalent_identifiers": ["NCBIGene:386680", "ENSEMBL:ENSG00000241123", "HGNC:22969", "UMLS:C1427822", "UniProtKB:P60370", "PR:P60370", "ENSEMBL:ENSP00000383223", "ENSEMBL:ENSP00000383223.1"], "information_content": 100.0}
{"id": "NCBIGene:386672", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP10-4", "equivalent_identifiers": ["NCBIGene:386672", "ENSEMBL:ENSG00000215454", "HGNC:20521", "UMLS:C1537508", "UniProtKB:P60372", "PR:P60372", "ENSEMBL:ENSP00000383225", "ENSEMBL:ENSP00000383225.3"], "information_content": 100.0}
{"id": "NCBIGene:386677", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP10-1", "equivalent_identifiers": ["NCBIGene:386677", "ENSEMBL:ENSG00000215455", "HGNC:22966", "UMLS:C1427819", "UniProtKB:P60331", "PR:P60331", "ENSEMBL:ENSP00000383226", "ENSEMBL:ENSP00000383226.1", "UMLS:C3710668", "MESH:C585494"], "information_content": 100.0}
{"id": "DOID:0111503", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Li-Fraumeni syndrome 1", "equivalent_identifiers": ["DOID:0111503"]}
{"id": "UniProtKB:P19440-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione hydrolase 1 proenzyme isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P19440-1", "PR:P19440-1", "ENSEMBL:ENSP00000383231", "ENSEMBL:ENSP00000383231.1", "ENSEMBL:ENSP00000383232", "ENSEMBL:ENSP00000383232.1"], "information_content": 100.0}
{"id": "NCBIGene:5596", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAPK4", "equivalent_identifiers": ["NCBIGene:5596", "ENSEMBL:ENSG00000141639", "HGNC:6878", "OMIM:176949", "UMLS:C1334479", "UniProtKB:B4DEW2", "ENSEMBL:ENSP00000439231", "ENSEMBL:ENSP00000439231.1", "UMLS:C3253787", "MESH:C562219", "UniProtKB:K7ELV1", "ENSEMBL:ENSP00000466233", "ENSEMBL:ENSP00000466233.1", "UniProtKB:P31152", "PR:P31152", "ENSEMBL:ENSP00000383234", "ENSEMBL:ENSP00000383234.1", "UMLS:C0532059"], "information_content": 92.8}
{"id": "NCBIGene:8672", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF4G3", "equivalent_identifiers": ["NCBIGene:8672", "ENSEMBL:ENSG00000075151", "HGNC:3298", "OMIM:603929", "UMLS:C1414358", "UniProtKB:A0A0A0MSA7", "ENSEMBL:ENSP00000383274", "ENSEMBL:ENSP00000383274.2", "UniProtKB:A0A804HJV5", "ENSEMBL:ENSP00000507662", "ENSEMBL:ENSP00000507662.1", "UniProtKB:A0A8I5QJH9", "ENSEMBL:ENSP00000509547", "ENSEMBL:ENSP00000509547.1", "UniProtKB:A0A8J9G7U8", "ENSEMBL:ENSP00000473510", "ENSEMBL:ENSP00000473510.2", "UniProtKB:B4DXR2", "UniProtKB:O43432", "PR:O43432", "UniProtKB:Q59GJ0"]}
{"id": "UniProtKB:Q8NFP9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurobeachin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFP9-1", "PR:Q8NFP9-1", "ENSEMBL:ENSP00000383295", "ENSEMBL:ENSP00000383295.3"], "information_content": 100.0}
{"id": "UniProtKB:Q16587-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 74 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16587-1", "PR:Q16587-1", "ENSEMBL:ENSP00000383301", "ENSEMBL:ENSP00000383301.2", "ENSEMBL:ENSP00000483077", "ENSEMBL:ENSP00000483077.1"], "information_content": 100.0}
{"id": "UniProtKB:O60469-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell adhesion molecule DSCAM isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O60469-1", "PR:O60469-1", "ENSEMBL:ENSP00000383303", "ENSEMBL:ENSP00000383303.1", "ENSEMBL:ENSP00000517071", "ENSEMBL:ENSP00000517071.1"], "information_content": 100.0}
{"id": "NCBIGene:23515", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MORC3", "equivalent_identifiers": ["NCBIGene:23515", "ENSEMBL:ENSG00000159256", "HGNC:23572", "OMIM:610078", "UMLS:C1826267", "UniProtKB:B4DHJ4", "UMLS:C2936154", "MESH:C551732", "UniProtKB:Q14149", "PR:Q14149", "ENSEMBL:ENSP00000383333", "ENSEMBL:ENSP00000383333.1", "UMLS:C3812252", "UniProtKB:Q4VBZ9"], "information_content": 100.0}
{"id": "NCBIGene:5320", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLA2G2A", "equivalent_identifiers": ["NCBIGene:5320", "ENSEMBL:ENSG00000188257", "HGNC:9031", "OMIM:172411", "UMLS:C1335221", "UniProtKB:P14555", "PR:P14555", "ENSEMBL:ENSP00000364252", "ENSEMBL:ENSP00000364252.3", "ENSEMBL:ENSP00000383364", "ENSEMBL:ENSP00000383364.3", "ENSEMBL:ENSP00000504762", "ENSEMBL:ENSP00000504762.1", "UMLS:C0536678", "MESH:C516287"], "information_content": 95.4}
{"id": "UniProtKB:Q9NNW7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin reductase 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NNW7-1", "PR:Q9NNW7-1", "ENSEMBL:ENSP00000383365", "ENSEMBL:ENSP00000383365.1"], "information_content": 100.0}
{"id": "NCBIGene:388795", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EFCAB8", "equivalent_identifiers": ["NCBIGene:388795", "ENSEMBL:ENSG00000215529", "HGNC:34532", "UMLS:C2681449", "UniProtKB:A0A096LNH2", "ENSEMBL:ENSP00000383366", "ENSEMBL:ENSP00000383366.5"]}
{"id": "UniProtKB:P57087-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "junctional adhesion molecule B isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P57087-3", "PR:P57087-3", "ENSEMBL:ENSP00000383376", "ENSEMBL:ENSP00000383376.1"], "information_content": 100.0}
{"id": "UniProtKB:P13224-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "platelet glycoprotein Ib beta chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13224-1", "PR:P13224-1", "ENSEMBL:ENSP00000383382", "ENSEMBL:ENSP00000383382.2"], "information_content": 100.0}
{"id": "UniProtKB:O15394-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neural cell adhesion molecule 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15394-1", "PR:O15394-1", "ENSEMBL:ENSP00000383392", "ENSEMBL:ENSP00000383392.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TF05-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF05-1", "PR:Q8TF05-1", "ENSEMBL:ENSP00000383402", "ENSEMBL:ENSP00000383402.3"], "information_content": 100.0}
{"id": "NCBIGene:27443", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CECR2", "equivalent_identifiers": ["NCBIGene:27443", "ENSEMBL:ENSG00000099954", "HGNC:1840", "OMIM:607576", "UMLS:C1413328", "UniProtKB:B7WPH3", "ENSEMBL:ENSP00000383428", "ENSEMBL:ENSP00000383428.2", "UniProtKB:Q9BXF3", "PR:Q9BXF3", "UMLS:C3529454", "MESH:C576521"]}
{"id": "UniProtKB:Q5W0Z9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyltransferase ZDHHC20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5W0Z9-1", "PR:Q5W0Z9-1", "ENSEMBL:ENSP00000383433", "ENSEMBL:ENSP00000383433.3", "ENSEMBL:ENSP00000401232", "ENSEMBL:ENSP00000401232.1"], "information_content": 100.0}
{"id": "NCBIGene:400831", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C20orf202", "equivalent_identifiers": ["NCBIGene:400831", "ENSEMBL:ENSG00000215595", "HGNC:37254", "UMLS:C2828936", "UniProtKB:A1L168", "PR:A1L168", "ENSEMBL:ENSP00000383474", "ENSEMBL:ENSP00000383474.2"], "information_content": 95.4}
{"id": "NCBIGene:127707", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHDC7A", "equivalent_identifiers": ["NCBIGene:127707", "ENSEMBL:ENSG00000179023", "HGNC:26791", "UMLS:C1825720", "UniProtKB:Q5VTJ3", "PR:Q5VTJ3", "ENSEMBL:ENSP00000383505", "ENSEMBL:ENSP00000383505.1"], "information_content": 100.0}
{"id": "NCBIGene:3166", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMX1", "equivalent_identifiers": ["NCBIGene:3166", "ENSEMBL:ENSG00000215612", "HGNC:5017", "OMIM:142992", "UMLS:C1415622", "UniProtKB:F1T0J4", "ENSEMBL:ENSP00000446997", "ENSEMBL:ENSP00000446997.2", "ENSEMBL:ENSP00000500663", "ENSEMBL:ENSP00000500663.1", "UMLS:C2355025", "MESH:C530064", "UniProtKB:Q9NP08", "PR:Q9NP08", "ENSEMBL:ENSP00000383516", "ENSEMBL:ENSP00000383516.3", "ENSEMBL:ENSP00000499825", "ENSEMBL:ENSP00000499825.1"], "information_content": 100.0}
{"id": "NCBIGene:2642", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GCGR", "equivalent_identifiers": ["NCBIGene:2642", "ENSEMBL:ENSG00000215644", "HGNC:4192", "OMIM:138033", "UMLS:C1415011", "UniProtKB:P47871", "PR:P47871", "ENSEMBL:ENSP00000383558", "ENSEMBL:ENSP00000383558.3", "ENSEMBL:ENSP00000500297", "ENSEMBL:ENSP00000500297.1", "UMLS:C4761329"], "information_content": 95.4}
{"id": "NCBIGene:653808", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZG16", "equivalent_identifiers": ["NCBIGene:653808", "ENSEMBL:ENSG00000174992", "HGNC:30961", "OMIM:617311", "UMLS:C2681130", "UniProtKB:O60844", "PR:O60844", "ENSEMBL:ENSP00000383563", "ENSEMBL:ENSP00000383563.4", "UMLS:C1956660", "MESH:C519401"], "information_content": 95.4}
{"id": "NCBIGene:729515", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM242", "equivalent_identifiers": ["NCBIGene:729515", "ENSEMBL:ENSG00000215712", "HGNC:17206", "OMIM:620721", "UMLS:C3470102", "UniProtKB:Q9NWH2", "PR:Q9NWH2", "ENSEMBL:ENSP00000383594", "ENSEMBL:ENSP00000383594.3"], "information_content": 100.0}
{"id": "UniProtKB:O94967-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 47 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O94967-4", "PR:O94967-4", "ENSEMBL:ENSP00000383599", "ENSEMBL:ENSP00000383599.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96S94-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-L2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96S94-1", "PR:Q96S94-1", "ENSEMBL:ENSP00000383611", "ENSEMBL:ENSP00000383611.3"], "information_content": 100.0}
{"id": "UniProtKB:O00187-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mannan-binding lectin serine protease 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00187-1", "PR:O00187-1", "ENSEMBL:ENSP00000383690", "ENSEMBL:ENSP00000383690.3"], "information_content": 95.4}
{"id": "ENSEMBL:ENSP00000383692", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000383692", "equivalent_identifiers": ["ENSEMBL:ENSP00000383692"]}
{"id": "MONDO:0004802", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulmonary eosinophilia", "equivalent_identifiers": ["MONDO:0004802", "DOID:9498", "UMLS:C0034068", "UMLS:C5552799", "MESH:D011657", "MEDDRA:10037382", "MEDDRA:10037412", "SNOMEDCT:367542003", "medgen:46208", "icd11.foundation:544479555", "ICD9:518.3", "HP:0032071"], "information_content": 95.4}
{"id": "NCBIGene:155184", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC2A7", "equivalent_identifiers": ["NCBIGene:155184", "ENSEMBL:ENSG00000197241", "HGNC:13445", "OMIM:610371", "UMLS:C1421997", "UniProtKB:Q6PXP3", "PR:Q6PXP3", "ENSEMBL:ENSP00000383698", "ENSEMBL:ENSP00000383698.1", "UMLS:C1454222", "MESH:C487892"], "information_content": 92.8}
{"id": "NCBIGene:199990", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAAP20", "equivalent_identifiers": ["NCBIGene:199990", "ENSEMBL:ENSG00000162585", "HGNC:26428", "OMIM:615183", "UMLS:C1823706", "UniProtKB:F6S8H2", "ENSEMBL:ENSP00000383710", "ENSEMBL:ENSP00000383710.4", "UniProtKB:Q6NZ36", "PR:Q6NZ36", "UMLS:C3490898", "MESH:C570807", "UniProtKB:Q6ZRT9", "UniProtKB:Q7Z4P6"]}
{"id": "UniProtKB:Q0VDD8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal heavy chain 14 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q0VDD8-2", "PR:Q0VDD8-2", "ENSEMBL:ENSP00000383737", "ENSEMBL:ENSP00000383737.3"], "information_content": 100.0}
{"id": "MONDO:0001291", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brain compression", "equivalent_identifiers": ["MONDO:0001291", "DOID:11457", "UMLS:C0009592", "MEDDRA:10006112", "MEDDRA:10010215", "SNOMEDCT:46963008", "medgen:507585", "ICD10:G93.5", "ICD9:348.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UMX2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ornithine decarboxylase antizyme 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMX2-1", "PR:Q9UMX2-1", "ENSEMBL:ENSP00000383784", "ENSEMBL:ENSP00000383784.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N108-12", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mesoderm induction early response protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N108-12", "PR:Q8N108-12", "ENSEMBL:ENSP00000383820", "ENSEMBL:ENSP00000383820.1"], "information_content": 100.0}
{"id": "NCBIGene:25974", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMACHC", "equivalent_identifiers": ["NCBIGene:25974", "ENSEMBL:ENSG00000132763", "HGNC:24525", "OMIM:609831", "UMLS:C1826260", "UniProtKB:A0A0C4DGU2", "ENSEMBL:ENSP00000478859", "ENSEMBL:ENSP00000478859.1", "UniProtKB:Q9Y4U1", "PR:Q9Y4U1", "ENSEMBL:ENSP00000383840", "ENSEMBL:ENSP00000383840.4", "UMLS:C1701866", "MESH:C508359"], "information_content": 95.4}
{"id": "UniProtKB:Q9P206-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NHS-like protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9P206-2", "PR:Q9P206-2", "ENSEMBL:ENSP00000383851", "ENSEMBL:ENSP00000383851.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z422-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SUZ RNA-binding domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z422-1", "PR:Q7Z422-1", "ENSEMBL:ENSP00000383866", "ENSEMBL:ENSP00000383866.4", "ENSEMBL:ENSP00000516842", "ENSEMBL:ENSP00000516842.1"], "information_content": 100.0}
{"id": "UniProtKB:O15232-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "matrilin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15232-1", "PR:O15232-1", "ENSEMBL:ENSP00000383894", "ENSEMBL:ENSP00000383894.3"], "information_content": 100.0}
{"id": "NCBIGene:643414", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIPK", "equivalent_identifiers": ["NCBIGene:643414", "ENSEMBL:ENSG00000204021", "HGNC:23444", "OMIM:613922", "UMLS:C1537577", "UniProtKB:Q5VXJ0", "PR:Q5VXJ0", "ENSEMBL:ENSP00000383900", "ENSEMBL:ENSP00000383900.1"], "information_content": 95.4}
{"id": "UniProtKB:Q5VYY2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lipase member M isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VYY2-1", "PR:Q5VYY2-1", "ENSEMBL:ENSP00000383901", "ENSEMBL:ENSP00000383901.3"], "information_content": 100.0}
{"id": "NCBIGene:63950", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DMRTA2", "equivalent_identifiers": ["NCBIGene:63950", "ENSEMBL:ENSG00000142700", "HGNC:13908", "OMIM:614804", "UMLS:C1422262", "UniProtKB:Q96SC8", "PR:Q96SC8", "ENSEMBL:ENSP00000383909", "ENSEMBL:ENSP00000383909.3", "ENSEMBL:ENSP00000399370", "ENSEMBL:ENSP00000399370.1", "UMLS:C4042030", "MESH:C000598461"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBM4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-associated domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBM4-1", "PR:Q8NBM4-1", "ENSEMBL:ENSP00000383911", "ENSEMBL:ENSP00000383911.3"], "information_content": 100.0}
{"id": "UniProtKB:Q76L83-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative Polycomb group protein ASXL2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q76L83-2", "PR:Q76L83-2", "ENSEMBL:ENSP00000383920", "ENSEMBL:ENSP00000383920.1"], "information_content": 100.0}
{"id": "NCBIGene:643418", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIPN", "equivalent_identifiers": ["NCBIGene:643418", "ENSEMBL:ENSG00000204020", "HGNC:23452", "OMIM:613924", "UMLS:C1537579", "UniProtKB:Q5VXI9", "PR:Q5VXI9", "ENSEMBL:ENSP00000383923", "ENSEMBL:ENSP00000383923.1"], "information_content": 92.8}
{"id": "NCBIGene:2814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GP5", "equivalent_identifiers": ["NCBIGene:2814", "ENSEMBL:ENSG00000178732", "HGNC:4443", "OMIM:173511", "UMLS:C1415189", "UniProtKB:P40197", "PR:P40197", "ENSEMBL:ENSP00000383931", "ENSEMBL:ENSP00000383931.1", "ENSEMBL:ENSP00000509337", "ENSEMBL:ENSP00000509337.1", "UMLS:C4284063"], "information_content": 95.4}
{"id": "MONDO:0002352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "larynx cancer", "equivalent_identifiers": ["MONDO:0002352", "DOID:2596", "EFO:1000354", "UMLS:C0007107", "MEDDRA:10023825", "MEDDRA:10023826", "MEDDRA:10023827", "MEDDRA:10023900", "MEDDRA:10023915", "MEDDRA:10026038", "MEDDRA:10026044", "NCIT:C7484", "SNOMEDCT:363429002", "medgen:2868", "ICD10:C32", "ICD9:161"], "information_content": 69.0}
{"id": "UniProtKB:Q6UXH1-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein disulfide isomerase CRELD2 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXH1-5", "PR:Q6UXH1-5", "ENSEMBL:ENSP00000383938", "ENSEMBL:ENSP00000383938.3"], "information_content": 100.0}
{"id": "NCBIGene:4809", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNU13", "equivalent_identifiers": ["NCBIGene:4809", "ENSEMBL:ENSG00000100138", "HGNC:7819", "OMIM:601304", "UMLS:C1417724", "UniProtKB:P55769", "PR:P55769", "ENSEMBL:ENSP00000215956", "ENSEMBL:ENSP00000215956.5", "ENSEMBL:ENSP00000383949", "ENSEMBL:ENSP00000383949.1", "ENSEMBL:ENSP00000497142", "ENSEMBL:ENSP00000497142.1", "UniProtKB:Q6FHM6"], "information_content": 89.4}
{"id": "UniProtKB:Q96GN5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell division cycle-associated 7-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GN5-1", "PR:Q96GN5-1", "ENSEMBL:ENSP00000383986", "ENSEMBL:ENSP00000383986.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5P4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ceramide transfer protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5P4-3", "PR:Q9Y5P4-3", "ENSEMBL:ENSP00000383996", "ENSEMBL:ENSP00000383996.4"], "information_content": 100.0}
{"id": "UniProtKB:P78424-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POU domain, class 6, transcription factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78424-1", "PR:P78424-1", "ENSEMBL:ENSP00000384004", "ENSEMBL:ENSP00000384004.1"], "information_content": 100.0}
{"id": "UniProtKB:O94901-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SUN domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94901-8", "PR:O94901-8", "ENSEMBL:ENSP00000384015", "ENSEMBL:ENSP00000384015.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y618-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor corepressor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y618-1", "PR:Q9Y618-1", "ENSEMBL:ENSP00000384018", "ENSEMBL:ENSP00000384018.1"], "information_content": 100.0}
{"id": "NCBIGene:114800", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC85A", "equivalent_identifiers": ["NCBIGene:114800", "ENSEMBL:ENSG00000055813", "HGNC:29400", "UMLS:C1824610", "UniProtKB:Q96PX6", "PR:Q96PX6", "ENSEMBL:ENSP00000384040", "ENSEMBL:ENSP00000384040.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZW49-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PAX-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZW49-6", "PR:Q6ZW49-6", "ENSEMBL:ENSP00000384048", "ENSEMBL:ENSP00000384048.1"], "information_content": 100.0}
{"id": "UniProtKB:P32927-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytokine receptor common subunit beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P32927-1", "PR:P32927-1", "ENSEMBL:ENSP00000384053", "ENSEMBL:ENSP00000384053.3"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y2G0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein EFR3 homolog B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2G0-1", "PR:Q9Y2G0-1", "ENSEMBL:ENSP00000384081", "ENSEMBL:ENSP00000384081.3"], "information_content": 100.0}
{"id": "UniProtKB:O60941-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dystrobrevin beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60941-1", "PR:O60941-1", "ENSEMBL:ENSP00000384084", "ENSEMBL:ENSP00000384084.3"], "information_content": 100.0}
{"id": "MONDO:0013239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 41", "equivalent_identifiers": ["MONDO:0013239", "DOID:0110793", "OMIM:613364", "orphanet:320355", "UMLS:C3888208", "SNOMEDCT:763069002", "medgen:854815"], "information_content": 100.0}
{"id": "NCBIGene:5443", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POMC", "equivalent_identifiers": ["NCBIGene:5443", "ENSEMBL:ENSG00000115138", "HGNC:9201", "OMIM:176830", "UMLS:C1337111", "UniProtKB:P01189", "PR:P01189", "ENSEMBL:ENSP00000264708", "ENSEMBL:ENSP00000264708.3", "ENSEMBL:ENSP00000370171", "ENSEMBL:ENSP00000370171.1", "ENSEMBL:ENSP00000379170", "ENSEMBL:ENSP00000379170.2", "ENSEMBL:ENSP00000384092", "ENSEMBL:ENSP00000384092.1", "UMLS:C0050600", "UMLS:C3818725", "UMLS:C3889630"], "information_content": 100.0}
{"id": "UniProtKB:A0A804CL36", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A804CL36_HUMAN Cullin 4B (trembl)", "equivalent_identifiers": ["UniProtKB:A0A804CL36", "ENSEMBL:ENSP00000384109", "ENSEMBL:ENSP00000384109.4"]}
{"id": "UniProtKB:Q5TIA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "meiosis inhibitor protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TIA1-1", "PR:Q5TIA1-1", "ENSEMBL:ENSP00000384115", "ENSEMBL:ENSP00000384115.3"], "information_content": 100.0}
{"id": "NCBIGene:2615", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC32", "equivalent_identifiers": ["NCBIGene:2615", "ENSEMBL:ENSG00000137507", "HGNC:4161", "OMIM:137207", "UMLS:C1537607", "UniProtKB:Q14392", "PR:Q14392", "ENSEMBL:ENSP00000260061", "ENSEMBL:ENSP00000260061.5", "ENSEMBL:ENSP00000384126", "ENSEMBL:ENSP00000384126.2", "ENSEMBL:ENSP00000385766", "ENSEMBL:ENSP00000385766.1", "UMLS:C1430019", "MESH:C087215"], "information_content": 100.0}
{"id": "UniProtKB:Q96EV2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 33 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EV2-1", "PR:Q96EV2-1", "ENSEMBL:ENSP00000384160", "ENSEMBL:ENSP00000384160.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96L93-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF16B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96L93-2", "PR:Q96L93-2", "ENSEMBL:ENSP00000384164", "ENSEMBL:ENSP00000384164.1"], "information_content": 100.0}
{"id": "UniProtKB:P98095-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibulin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P98095-2", "PR:P98095-2", "ENSEMBL:ENSP00000384169", "ENSEMBL:ENSP00000384169.3", "ENSEMBL:ENSP00000420042", "ENSEMBL:ENSP00000420042.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WW38-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein ZFPM2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WW38-1", "PR:Q8WW38-1", "ENSEMBL:ENSP00000384179", "ENSEMBL:ENSP00000384179.2"], "information_content": 100.0}
{"id": "MONDO:0001481", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "femoral vein thrombophlebitis", "equivalent_identifiers": ["MONDO:0001481", "DOID:12282", "UMLS:C0265066", "SNOMEDCT:1748006", "SNOMEDCT:195410000", "medgen:539052", "ICD10:I80.1", "ICD9:451.11"], "information_content": 100.0}
{"id": "UniProtKB:Q8WU76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Sec1 family domain-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WU76-1", "PR:Q8WU76-1", "ENSEMBL:ENSP00000384182", "ENSEMBL:ENSP00000384182.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8N3J6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell adhesion molecule 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3J6-3", "PR:Q8N3J6-3", "ENSEMBL:ENSP00000384193", "ENSEMBL:ENSP00000384193.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMN7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PDZ domain-containing RING finger protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMN7-1", "PR:Q6ZMN7-1", "ENSEMBL:ENSP00000384197", "ENSEMBL:ENSP00000384197.2"], "information_content": 100.0}
{"id": "NCBIGene:54891", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INO80D", "equivalent_identifiers": ["NCBIGene:54891", "ENSEMBL:ENSG00000114933", "HGNC:25997", "OMIM:619207", "UMLS:C2681613", "UniProtKB:Q53TQ3", "PR:Q53TQ3", "ENSEMBL:ENSP00000384198", "ENSEMBL:ENSP00000384198.1", "ENSEMBL:ENSP00000490850", "ENSEMBL:ENSP00000490850.1", "UMLS:C4085323"], "information_content": 100.0}
{"id": "MONDO:0005212", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rhabdomyosarcoma", "equivalent_identifiers": ["MONDO:0005212", "DOID:3247", "orphanet:780", "EFO:0002918", "UMLS:C0035412", "MESH:D012208", "MEDDRA:10039022", "MEDDRA:10039023", "MEDDRA:10039024", "MEDDRA:10039028", "NCIT:C3359", "SNOMEDCT:302847003", "SNOMEDCT:30924005", "medgen:20561", "HP:0002859"], "information_content": 67.4}
{"id": "UniProtKB:Q14997-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome activator complex subunit 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14997-1", "PR:Q14997-1", "ENSEMBL:ENSP00000384211", "ENSEMBL:ENSP00000384211.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6AWC2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein WWC2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6AWC2-1", "PR:Q6AWC2-1", "ENSEMBL:ENSP00000384222", "ENSEMBL:ENSP00000384222.3"], "information_content": 100.0}
{"id": "UniProtKB:P0DPD8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000384223", "equivalent_identifiers": ["UniProtKB:P0DPD8-1", "ENSEMBL:ENSP00000384223", "ENSEMBL:ENSP00000384223.3"]}
{"id": "UniProtKB:Q9Y4P1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine protease ATG4B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4P1-1", "PR:Q9Y4P1-1", "ENSEMBL:ENSP00000384259", "ENSEMBL:ENSP00000384259.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y251-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heparanase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y251-1", "PR:Q9Y251-1", "ENSEMBL:ENSP00000308107", "ENSEMBL:ENSP00000308107.5", "ENSEMBL:ENSP00000384262", "ENSEMBL:ENSP00000384262.2"], "information_content": 100.0}
{"id": "NCBIGene:1259", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNGA1", "equivalent_identifiers": ["NCBIGene:1259", "ENSEMBL:ENSG00000198515", "HGNC:2148", "OMIM:123825", "UMLS:C1413543", "UniProtKB:P29973", "PR:P29973", "ENSEMBL:ENSP00000384264", "ENSEMBL:ENSP00000384264.5", "ENSEMBL:ENSP00000389881", "ENSEMBL:ENSP00000389881.3", "ENSEMBL:ENSP00000426862", "ENSEMBL:ENSP00000426862.3", "UMLS:C1451588", "MESH:C518243"], "information_content": 90.9}
{"id": "UniProtKB:Q04206-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor p65 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q04206-1", "PR:Q04206-1", "ENSEMBL:ENSP00000384273", "ENSEMBL:ENSP00000384273.3"], "information_content": 92.8}
{"id": "MONDO:0000977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondroid lipoma", "equivalent_identifiers": ["MONDO:0000977", "DOID:10208", "UMLS:C1266131", "NCIT:C6503", "SNOMEDCT:128746001", "SNOMEDCT:404065000", "medgen:266104"], "information_content": 100.0}
{"id": "NCBIGene:55112", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYNC2I1", "equivalent_identifiers": ["NCBIGene:55112", "ENSEMBL:ENSG00000126870", "HGNC:21862", "OMIM:615462", "UMLS:C1538104", "UniProtKB:A0A140VK66", "UMLS:C3710960", "MESH:C584144", "UniProtKB:Q8WVS4", "PR:Q8WVS4", "ENSEMBL:ENSP00000384290", "ENSEMBL:ENSP00000384290.3"], "information_content": 95.4}
{"id": "MONDO:0015024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type", "equivalent_identifiers": ["MONDO:0015024", "DOID:0111652", "OMIM:617337", "UMLS:C4310616", "medgen:934583"], "information_content": 100.0}
{"id": "UniProtKB:Q03154-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aminoacylase-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q03154-1", "PR:Q03154-1", "ENSEMBL:ENSP00000384296", "ENSEMBL:ENSP00000384296.2", "ENSEMBL:ENSP00000490149", "ENSEMBL:ENSP00000490149.1"], "information_content": 100.0}
{"id": "NCBIGene:23160", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR43", "equivalent_identifiers": ["NCBIGene:23160", "ENSEMBL:ENSG00000163811", "HGNC:28945", "OMIM:616195", "UMLS:C1538086", "UniProtKB:Q15061", "PR:Q15061", "ENSEMBL:ENSP00000384302", "ENSEMBL:ENSP00000384302.3", "UMLS:C5226401", "MESH:C000656430"], "information_content": 87.2}
{"id": "NCBIGene:4626", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYH8", "equivalent_identifiers": ["NCBIGene:4626", "ENSEMBL:ENSG00000133020", "HGNC:7578", "OMIM:160741", "UMLS:C1417543", "UniProtKB:P13535", "PR:P13535", "ENSEMBL:ENSP00000384330", "ENSEMBL:ENSP00000384330.2", "UMLS:C1455020", "MESH:C488292"], "information_content": 95.4}
{"id": "NCBIGene:644890", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MEIG1", "equivalent_identifiers": ["NCBIGene:644890", "ENSEMBL:ENSG00000197889", "HGNC:23429", "OMIM:614174", "UMLS:C1537684", "UniProtKB:Q5JSS6", "PR:Q5JSS6", "ENSEMBL:ENSP00000367486", "ENSEMBL:ENSP00000367486.1", "ENSEMBL:ENSP00000384334", "ENSEMBL:ENSP00000384334.1", "UMLS:C3657714", "MESH:C579482"], "information_content": 95.4}
{"id": "NCBIGene:129787", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM18", "equivalent_identifiers": ["NCBIGene:129787", "ENSEMBL:ENSG00000151353", "HGNC:25257", "OMIM:613220", "UMLS:C1428462", "UniProtKB:B5MBX8", "ENSEMBL:ENSP00000384347", "ENSEMBL:ENSP00000384347.3", "UniProtKB:Q96B42", "PR:Q96B42", "UMLS:C2604119", "MESH:C530715"]}
{"id": "UniProtKB:P31941-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA dC->dU-editing enzyme APOBEC-3A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P31941-1", "PR:P31941-1", "ENSEMBL:ENSP00000249116", "ENSEMBL:ENSP00000249116.2", "ENSEMBL:ENSP00000384359", "ENSEMBL:ENSP00000384359.1", "ENSEMBL:ENSP00000461288", "ENSEMBL:ENSP00000461288.1", "ENSEMBL:ENSP00000485234", "ENSEMBL:ENSP00000485234.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7L5L3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysophospholipase D GDPD3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L5L3-2", "PR:Q7L5L3-2", "ENSEMBL:ENSP00000384363", "ENSEMBL:ENSP00000384363.3"], "information_content": 100.0}
{"id": "NCBIGene:4852", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPY", "equivalent_identifiers": ["NCBIGene:4852", "ENSEMBL:ENSG00000122585", "HGNC:7955", "OMIM:162640", "UMLS:C1417815", "UniProtKB:A4D158", "UniProtKB:P01303", "PR:P01303", "ENSEMBL:ENSP00000242152", "ENSEMBL:ENSP00000242152.2", "ENSEMBL:ENSP00000384364", "ENSEMBL:ENSP00000384364.1", "ENSEMBL:ENSP00000385282", "ENSEMBL:ENSP00000385282.1", "UMLS:C4521303", "UMLS:C4721533"], "information_content": 88.2}
{"id": "NCBIGene:284252", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCTD1", "equivalent_identifiers": ["NCBIGene:284252", "ENSEMBL:ENSG00000134504", "HGNC:18249", "OMIM:613420", "UMLS:C1425395", "UniProtKB:A0A2U3U043", "ENSEMBL:ENSP00000463041", "ENSEMBL:ENSP00000463041.2", "UMLS:C2354615", "MESH:C529677", "UniProtKB:Q719H9", "PR:Q719H9", "ENSEMBL:ENSP00000314831", "ENSEMBL:ENSP00000314831.7", "ENSEMBL:ENSP00000384367", "ENSEMBL:ENSP00000384367.3", "ENSEMBL:ENSP00000408405", "ENSEMBL:ENSP00000408405.2", "ENSEMBL:ENSP00000464170", "ENSEMBL:ENSP00000464170.1"], "information_content": 100.0}
{"id": "UniProtKB:A6NJ78-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "12S rRNA N(4)-cytidine methyltransferase METTL15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NJ78-1", "PR:A6NJ78-1", "ENSEMBL:ENSP00000384369", "ENSEMBL:ENSP00000384369.3"], "information_content": 100.0}
{"id": "UniProtKB:P41182-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-cell lymphoma 6 protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P41182-1", "PR:P41182-1", "ENSEMBL:ENSP00000232014", "ENSEMBL:ENSP00000232014.4", "ENSEMBL:ENSP00000384371", "ENSEMBL:ENSP00000384371.2"], "information_content": 100.0}
{"id": "NCBIGene:100129278", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TDRD15", "equivalent_identifiers": ["NCBIGene:100129278", "ENSEMBL:ENSG00000218819", "HGNC:45037", "UMLS:C3540907", "UniProtKB:B5MCY1", "PR:B5MCY1", "ENSEMBL:ENSP00000384376", "ENSEMBL:ENSP00000384376.2", "ENSEMBL:ENSP00000478350", "ENSEMBL:ENSP00000478350.1", "ENSEMBL:ENSP00000517057", "ENSEMBL:ENSP00000517057.1", "ENSEMBL:ENSP00000517058", "ENSEMBL:ENSP00000517058.1"], "information_content": 92.8}
{"id": "NCBIGene:3061", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HCRTR1", "equivalent_identifiers": ["NCBIGene:3061", "ENSEMBL:ENSG00000121764", "HGNC:4848", "OMIM:602392", "UMLS:C1415501", "UniProtKB:A6NMV7", "ENSEMBL:ENSP00000362809", "ENSEMBL:ENSP00000362809.1", "UMLS:C3711353", "MESH:C578630", "UniProtKB:O43613", "PR:O43613", "ENSEMBL:ENSP00000362810", "ENSEMBL:ENSP00000362810.5", "ENSEMBL:ENSP00000384387", "ENSEMBL:ENSP00000384387.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86XN8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein MEX3D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XN8-1", "PR:Q86XN8-1", "ENSEMBL:ENSP00000384398", "ENSEMBL:ENSP00000384398.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y259-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choline/ethanolamine kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y259-1", "PR:Q9Y259-1", "ENSEMBL:ENSP00000384400", "ENSEMBL:ENSP00000384400.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86W56-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly(ADP-ribose) glycohydrolase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86W56-1", "PR:Q86W56-1", "ENSEMBL:ENSP00000384408", "ENSEMBL:ENSP00000384408.3", "ENSEMBL:ENSP00000484285", "ENSEMBL:ENSP00000484285.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBB9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tuftelin-interacting protein 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBB9-1", "PR:Q9UBB9-1", "ENSEMBL:ENSP00000383892", "ENSEMBL:ENSP00000383892.1", "ENSEMBL:ENSP00000384297", "ENSEMBL:ENSP00000384297.1", "ENSEMBL:ENSP00000384421", "ENSEMBL:ENSP00000384421.1", "ENSEMBL:ENSP00000385861", "ENSEMBL:ENSP00000385861.1", "ENSEMBL:ENSP00000480171", "ENSEMBL:ENSP00000480171.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5T7B8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF24 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T7B8-1", "PR:Q5T7B8-1", "ENSEMBL:ENSP00000384433", "ENSEMBL:ENSP00000384433.1"], "information_content": 100.0}
{"id": "UniProtKB:B5MCP8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B5MCP8_HUMAN GATA-type zinc finger protein 1 (trembl)", "equivalent_identifiers": ["UniProtKB:B5MCP8", "ENSEMBL:ENSP00000384434", "ENSEMBL:ENSP00000384434.4", "ENSEMBL:ENSP00000385403", "ENSEMBL:ENSP00000385403.1"]}
{"id": "UniProtKB:Q9NX55-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "huntingtin-interacting protein K isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NX55-2", "PR:Q9NX55-2", "ENSEMBL:ENSP00000384474", "ENSEMBL:ENSP00000384474.2", "ENSEMBL:ENSP00000401155", "ENSEMBL:ENSP00000401155.3"], "information_content": 100.0}
{"id": "UniProtKB:O00458-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon-related developmental regulator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00458-1", "PR:O00458-1", "ENSEMBL:ENSP00000005558", "ENSEMBL:ENSP00000005558.4", "ENSEMBL:ENSP00000384477", "ENSEMBL:ENSP00000384477.3", "ENSEMBL:ENSP00000502336", "ENSEMBL:ENSP00000502336.1"], "information_content": 100.0}
{"id": "NCBIGene:109", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADCY3", "equivalent_identifiers": ["NCBIGene:109", "ENSEMBL:ENSG00000138031", "HGNC:234", "OMIM:600291", "UMLS:C1412222", "UniProtKB:A0A0A0MSC1", "ENSEMBL:ENSP00000384484", "ENSEMBL:ENSP00000384484.2", "UMLS:C2741760", "UniProtKB:B7ZLX9", "UniProtKB:O60266", "PR:O60266"]}
{"id": "NCBIGene:23466", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CBX6", "equivalent_identifiers": ["NCBIGene:23466", "ENSEMBL:ENSG00000183741", "HGNC:1556", "OMIM:617438", "UMLS:C1413161", "UniProtKB:B0QXZ6", "ENSEMBL:ENSP00000216083", "ENSEMBL:ENSP00000216083.6", "UniProtKB:O95503", "PR:O95503", "ENSEMBL:ENSP00000384490", "ENSEMBL:ENSP00000384490.3"], "information_content": 95.4}
{"id": "UniProtKB:Q8NHQ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras association domain-containing protein 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHQ8-1", "PR:Q8NHQ8-1", "ENSEMBL:ENSP00000282884", "ENSEMBL:ENSP00000282884.9", "ENSEMBL:ENSP00000384491", "ENSEMBL:ENSP00000384491.1", "ENSEMBL:ENSP00000439839", "ENSEMBL:ENSP00000439839.1", "ENSEMBL:ENSP00000443096", "ENSEMBL:ENSP00000443096.1", "ENSEMBL:ENSP00000509001", "ENSEMBL:ENSP00000509001.1", "ENSEMBL:ENSP00000509645", "ENSEMBL:ENSP00000509645.1", "ENSEMBL:ENSP00000510086", "ENSEMBL:ENSP00000510086.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H222-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family G member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H222-1", "PR:Q9H222-1", "ENSEMBL:ENSP00000384513", "ENSEMBL:ENSP00000384513.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9HBI1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-parvin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBI1-2", "PR:Q9HBI1-2", "ENSEMBL:ENSP00000384515", "ENSEMBL:ENSP00000384515.3"], "information_content": 100.0}
{"id": "UniProtKB:O00327-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "basic helix-loop-helix ARNT-like protein 1 isoform BMAL1B (human)", "equivalent_identifiers": ["UniProtKB:O00327-2", "PR:O00327-2", "ENSEMBL:ENSP00000384517", "ENSEMBL:ENSP00000384517.1", "ENSEMBL:ENSP00000385581", "ENSEMBL:ENSP00000385581.4", "ENSEMBL:ENSP00000433571", "ENSEMBL:ENSP00000433571.2"], "information_content": 100.0}
{"id": "UniProtKB:O00321-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS translocation variant 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00321-1", "PR:O00321-1", "ENSEMBL:ENSP00000384524", "ENSEMBL:ENSP00000384524.2", "ENSEMBL:ENSP00000385369", "ENSEMBL:ENSP00000385369.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUA8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and BTB domain-containing protein 40 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUA8-1", "PR:Q9NUA8-1", "ENSEMBL:ENSP00000364798", "ENSEMBL:ENSP00000364798.4", "ENSEMBL:ENSP00000384527", "ENSEMBL:ENSP00000384527.1"], "information_content": 100.0}
{"id": "UniProtKB:Q02952-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-kinase anchor protein 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02952-1", "PR:Q02952-1", "ENSEMBL:ENSP00000253332", "ENSEMBL:ENSP00000253332.1", "ENSEMBL:ENSP00000384537", "ENSEMBL:ENSP00000384537.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2F9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2F9-1", "PR:Q9Y2F9-1", "ENSEMBL:ENSP00000367471", "ENSEMBL:ENSP00000367471.2", "ENSEMBL:ENSP00000384545", "ENSEMBL:ENSP00000384545.1"], "information_content": 100.0}
{"id": "NCBIGene:30010", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NXPH1", "equivalent_identifiers": ["NCBIGene:30010", "ENSEMBL:ENSG00000122584", "HGNC:20693", "OMIM:604639", "UMLS:C1427081", "UniProtKB:P58417", "PR:P58417", "ENSEMBL:ENSP00000384551", "ENSEMBL:ENSP00000384551.1", "UMLS:C1433970", "UniProtKB:Q3LID8"], "information_content": 95.4}
{"id": "NCBIGene:140606", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SELENOM", "equivalent_identifiers": ["NCBIGene:140606", "ENSEMBL:ENSG00000198832", "HGNC:30397", "OMIM:610918", "UMLS:C1970457", "UniProtKB:Q8WWX9", "PR:Q8WWX9", "ENSEMBL:ENSP00000383155", "ENSEMBL:ENSP00000383155.2", "ENSEMBL:ENSP00000384564", "ENSEMBL:ENSP00000384564.1", "UMLS:C1448270", "MESH:C448999"], "information_content": 100.0}
{"id": "UniProtKB:Q9BWT7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase recruitment domain-containing protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWT7-1", "PR:Q9BWT7-1", "ENSEMBL:ENSP00000251973", "ENSEMBL:ENSP00000251973.5", "ENSEMBL:ENSP00000384570", "ENSEMBL:ENSP00000384570.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQZ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deleted in azoospermia protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQZ3-1", "PR:Q9NQZ3-1", "ENSEMBL:ENSP00000384573", "ENSEMBL:ENSP00000384573.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXG9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G-protein coupled receptor V1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXG9-1", "PR:Q8WXG9-1", "ENSEMBL:ENSP00000384582", "ENSEMBL:ENSP00000384582.2"], "information_content": 100.0}
{"id": "NCBIGene:57834", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP4F11", "equivalent_identifiers": ["NCBIGene:57834", "ENSEMBL:ENSG00000171903", "HGNC:13265", "OMIM:611517", "UMLS:C1421912", "UniProtKB:Q9HBI6", "PR:Q9HBI6", "ENSEMBL:ENSP00000248041", "ENSEMBL:ENSP00000248041.6", "ENSEMBL:ENSP00000384588", "ENSEMBL:ENSP00000384588.2", "UMLS:C1528277", "MESH:C492722"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNN4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TFIIA-alpha and beta-like factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNN4-1", "PR:Q9UNN4-1", "ENSEMBL:ENSP00000384597", "ENSEMBL:ENSP00000384597.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6UX46-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ALK and LTK ligand 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UX46-1", "PR:Q6UX46-1", "ENSEMBL:ENSP00000384604", "ENSEMBL:ENSP00000384604.3"], "information_content": 100.0}
{"id": "MONDO:0013431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Meier-Gorlin syndrome 4", "equivalent_identifiers": ["MONDO:0013431", "DOID:0080515", "OMIM:613804", "UMLS:C3151120", "medgen:462470"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZV29-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "patatin-like phospholipase domain-containing protein 7 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZV29-5", "PR:Q6ZV29-5", "ENSEMBL:ENSP00000384610", "ENSEMBL:ENSP00000384610.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXD7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 49 member A3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXD7-1", "PR:Q6UXD7-1", "ENSEMBL:ENSP00000384616", "ENSEMBL:ENSP00000384616.2"], "information_content": 100.0}
{"id": "NCBIGene:51701", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NLK", "equivalent_identifiers": ["NCBIGene:51701", "ENSEMBL:ENSG00000087095", "HGNC:29858", "OMIM:609476", "UMLS:C1428901", "UniProtKB:Q9UBE8", "PR:Q9UBE8", "ENSEMBL:ENSP00000384625", "ENSEMBL:ENSP00000384625.3", "UMLS:C1173652", "MESH:C470551"], "information_content": 92.8}
{"id": "UniProtKB:Q9NQR1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-lysine methyltransferase KMT5A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQR1-2", "PR:Q9NQR1-2", "ENSEMBL:ENSP00000384629", "ENSEMBL:ENSP00000384629.3"], "information_content": 100.0}
{"id": "UniProtKB:P26232-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "catenin alpha-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P26232-1", "PR:P26232-1", "ENSEMBL:ENSP00000384638", "ENSEMBL:ENSP00000384638.4"], "information_content": 100.0}
{"id": "UniProtKB:Q13615-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR3 isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q13615-1", "PR:Q13615-1", "ENSEMBL:ENSP00000384651", "ENSEMBL:ENSP00000384651.3"], "information_content": 100.0}
{"id": "NCBIGene:118672", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSTK", "equivalent_identifiers": ["NCBIGene:118672", "ENSEMBL:ENSG00000179988", "HGNC:28578", "OMIM:611310", "UMLS:C1428719", "UniProtKB:H7BYY4", "ENSEMBL:ENSP00000384653", "ENSEMBL:ENSP00000384653.3", "UniProtKB:Q8IV42", "PR:Q8IV42", "UMLS:C5433739", "MESH:C000709508"]}
{"id": "NCBIGene:84645", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C22orf23", "equivalent_identifiers": ["NCBIGene:84645", "ENSEMBL:ENSG00000128346", "HGNC:18589", "OMIM:619678", "UMLS:C1425627", "UniProtKB:A0A087X0J6", "ENSEMBL:ENSP00000483445", "ENSEMBL:ENSP00000483445.1", "UniProtKB:Q9BZE7", "PR:Q9BZE7", "ENSEMBL:ENSP00000249079", "ENSEMBL:ENSP00000249079.2", "ENSEMBL:ENSP00000384618", "ENSEMBL:ENSP00000384618.1", "ENSEMBL:ENSP00000384667", "ENSEMBL:ENSP00000384667.1"], "information_content": 100.0}
{"id": "MONDO:0004930", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "steroid-induced glaucoma", "equivalent_identifiers": ["MONDO:0004930", "DOID:9946", "UMLS:C0339578", "UMLS:C2012155", "MEDDRA:10011174", "MEDDRA:10018329", "SNOMEDCT:1654001", "medgen:573238", "ICD9:365.3"], "information_content": 95.4}
{"id": "NCBIGene:57481", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIAA1210", "equivalent_identifiers": ["NCBIGene:57481", "ENSEMBL:ENSG00000250423", "HGNC:29218", "OMIM:300995", "UMLS:C2681627", "UniProtKB:A0A8I5KWH9", "ENSEMBL:ENSP00000510348", "ENSEMBL:ENSP00000510348.1", "UniProtKB:Q9ULL0", "PR:Q9ULL0", "ENSEMBL:ENSP00000384670", "ENSEMBL:ENSP00000384670.2"], "information_content": 100.0}
{"id": "MONDO:0010417", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Najm type", "equivalent_identifiers": ["MONDO:0010417", "DOID:0060807", "OMIM:300749", "orphanet:163937", "UMLS:C2677903", "MESH:C567466", "medgen:437070"], "information_content": 100.0}
{"id": "UniProtKB:Q07889-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "son of sevenless homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q07889-1", "PR:Q07889-1", "ENSEMBL:ENSP00000384675", "ENSEMBL:ENSP00000384675.2"], "information_content": 100.0}
{"id": "UniProtKB:P60153-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive ribonuclease-like protein 9 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P60153-2", "PR:P60153-2", "ENSEMBL:ENSP00000384683", "ENSEMBL:ENSP00000384683.3", "ENSEMBL:ENSP00000450570", "ENSEMBL:ENSP00000450570.1", "ENSEMBL:ENSP00000450987", "ENSEMBL:ENSP00000450987.1", "ENSEMBL:ENSP00000451160", "ENSEMBL:ENSP00000451160.1", "ENSEMBL:ENSP00000481786", "ENSEMBL:ENSP00000481786.1"], "information_content": 100.0}
{"id": "MONDO:0032834", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 86", "equivalent_identifiers": ["MONDO:0032834", "DOID:0112143", "OMIM:618613", "UMLS:C5231428", "medgen:1684789"], "information_content": 100.0}
{"id": "MONDO:0100452", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "RPE65-related dominant retinopathy", "equivalent_identifiers": ["MONDO:0100452", "DOID:0112144"], "information_content": 95.4}
{"id": "UniProtKB:Q8IY49-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "monocyte to macrophage differentiation factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY49-1", "PR:Q8IY49-1", "ENSEMBL:ENSP00000384690", "ENSEMBL:ENSP00000384690.3"], "information_content": 100.0}
{"id": "NCBIGene:56903", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAPOLB", "equivalent_identifiers": ["NCBIGene:56903", "ENSEMBL:ENSG00000218823", "HGNC:15970", "OMIM:607436", "UMLS:C1423874", "UniProtKB:A4D1Z6", "UniProtKB:Q9NRJ5", "PR:Q9NRJ5", "ENSEMBL:ENSP00000384700", "ENSEMBL:ENSP00000384700.2", "UMLS:C1514208"], "information_content": 100.0}
{"id": "UniProtKB:P23945-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "follicle-stimulating hormone receptor isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P23945-1", "PR:P23945-1", "ENSEMBL:ENSP00000384708", "ENSEMBL:ENSP00000384708.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULC8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyltransferase ZDHHC8 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULC8-3", "PR:Q9ULC8-3", "ENSEMBL:ENSP00000384716", "ENSEMBL:ENSP00000384716.3"], "information_content": 100.0}
{"id": "NCBIGene:7447", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VSNL1", "equivalent_identifiers": ["NCBIGene:7447", "ENSEMBL:ENSG00000163032", "HGNC:12722", "OMIM:600817", "UMLS:C1421472", "UniProtKB:P62760", "PR:P62760", "ENSEMBL:ENSP00000295156", "ENSEMBL:ENSP00000295156.4", "ENSEMBL:ENSP00000384014", "ENSEMBL:ENSP00000384014.1", "ENSEMBL:ENSP00000384719", "ENSEMBL:ENSP00000384719.1", "UMLS:C1311448", "MESH:C496688"], "information_content": 95.4}
{"id": "UniProtKB:Q9NQX0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative histone-lysine N-methyltransferase PRDM6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQX0-3", "PR:Q9NQX0-3", "ENSEMBL:ENSP00000384725", "ENSEMBL:ENSP00000384725.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96Q80-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "derlin-3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q80-2", "PR:Q96Q80-2", "ENSEMBL:ENSP00000384744", "ENSEMBL:ENSP00000384744.3", "ENSEMBL:ENSP00000483693", "ENSEMBL:ENSP00000483693.2"], "information_content": 100.0}
{"id": "UniProtKB:P32418-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/calcium exchanger 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P32418-1", "PR:P32418-1", "ENSEMBL:ENSP00000332931", "ENSEMBL:ENSP00000332931.4", "ENSEMBL:ENSP00000384763", "ENSEMBL:ENSP00000384763.1"], "information_content": 100.0}
{"id": "UniProtKB:Q00888-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pregnancy-specific beta-1-glycoprotein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q00888-1", "PR:Q00888-1", "ENSEMBL:ENSP00000384770", "ENSEMBL:ENSP00000384770.3"], "information_content": 100.0}
{"id": "UniProtKB:O43379-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 62 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O43379-4", "PR:O43379-4", "ENSEMBL:ENSP00000384792", "ENSEMBL:ENSP00000384792.1"], "information_content": 100.0}
{"id": "NCBIGene:53947", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "A4GALT", "equivalent_identifiers": ["NCBIGene:53947", "ENSEMBL:ENSG00000128274", "HGNC:18149", "OMIM:607922", "UMLS:C1425345", "UniProtKB:A0A0S2Z5J1", "UniProtKB:Q5D079", "UniProtKB:Q9NPC4", "PR:Q9NPC4", "ENSEMBL:ENSP00000249005", "ENSEMBL:ENSP00000249005.2", "ENSEMBL:ENSP00000370678", "ENSEMBL:ENSP00000370678.3", "ENSEMBL:ENSP00000384794", "ENSEMBL:ENSP00000384794.1", "ENSEMBL:ENSP00000494127", "ENSEMBL:ENSP00000494127.1"], "information_content": 90.9}
{"id": "UniProtKB:Q86XK2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XK2-1", "PR:Q86XK2-1", "ENSEMBL:ENSP00000384823", "ENSEMBL:ENSP00000384823.4"], "information_content": 100.0}
{"id": "UniProtKB:A5PKW4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PH and SEC7 domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A5PKW4-1", "PR:A5PKW4-1", "ENSEMBL:ENSP00000020673", "ENSEMBL:ENSP00000020673.5", "ENSEMBL:ENSP00000384830", "ENSEMBL:ENSP00000384830.1"], "information_content": 100.0}
{"id": "UniProtKB:P85299-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich protein 5 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P85299-5", "PR:P85299-5", "ENSEMBL:ENSP00000384848", "ENSEMBL:ENSP00000384848.1"], "information_content": 100.0}
{"id": "NCBIGene:1026", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDKN1A", "equivalent_identifiers": ["NCBIGene:1026", "ENSEMBL:ENSG00000124762", "HGNC:1784", "OMIM:116899", "UMLS:C0249197", "UniProtKB:P38936", "PR:P38936", "ENSEMBL:ENSP00000244741", "ENSEMBL:ENSP00000244741.6", "ENSEMBL:ENSP00000362815", "ENSEMBL:ENSP00000362815.1", "ENSEMBL:ENSP00000384849", "ENSEMBL:ENSP00000384849.1", "ENSEMBL:ENSP00000409259", "ENSEMBL:ENSP00000409259.3", "ENSEMBL:ENSP00000482768", "ENSEMBL:ENSP00000482768.1", "UMLS:C1529821", "MESH:C493956"], "information_content": 78.0}
{"id": "UniProtKB:P11474-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "steroid hormone receptor ERR1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P11474-1", "PR:P11474-1", "ENSEMBL:ENSP00000000442", "ENSEMBL:ENSP00000000442.6", "ENSEMBL:ENSP00000384851", "ENSEMBL:ENSP00000384851.1"], "information_content": 100.0}
{"id": "NCBIGene:7514", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XPO1", "equivalent_identifiers": ["NCBIGene:7514", "ENSEMBL:ENSG00000082898", "HGNC:12825", "OMIM:602559", "UMLS:C1421544", "UniProtKB:A0A7I2V2Y6", "ENSEMBL:ENSP00000502940", "ENSEMBL:ENSP00000502940.1", "ENSEMBL:ENSP00000503194", "ENSEMBL:ENSP00000503194.1", "UniProtKB:A0A7I2V461", "ENSEMBL:ENSP00000503808", "ENSEMBL:ENSP00000503808.1", "UniProtKB:A0A7I2V6B9", "ENSEMBL:ENSP00000504749", "ENSEMBL:ENSP00000504749.1", "UniProtKB:B3KWD0", "UniProtKB:O14980", "PR:O14980", "ENSEMBL:ENSP00000384863", "ENSEMBL:ENSP00000384863.2", "ENSEMBL:ENSP00000385559", "ENSEMBL:ENSP00000385559.1", "ENSEMBL:ENSP00000385942", "ENSEMBL:ENSP00000385942.2", "ENSEMBL:ENSP00000503167", "ENSEMBL:ENSP00000503167.1", "ENSEMBL:ENSP00000503419", "ENSEMBL:ENSP00000503419.1", "ENSEMBL:ENSP00000503482", "ENSEMBL:ENSP00000503482.1", "ENSEMBL:ENSP00000503572", "ENSEMBL:ENSP00000503572.1", "ENSEMBL:ENSP00000503809", "ENSEMBL:ENSP00000503809.1", "ENSEMBL:ENSP00000504087", "ENSEMBL:ENSP00000504087.1", "ENSEMBL:ENSP00000504198", "ENSEMBL:ENSP00000504198.1", "ENSEMBL:ENSP00000504247", "ENSEMBL:ENSP00000504247.1", "ENSEMBL:ENSP00000504543", "ENSEMBL:ENSP00000504543.1", "ENSEMBL:ENSP00000504594", "ENSEMBL:ENSP00000504594.1", "ENSEMBL:ENSP00000504848", "ENSEMBL:ENSP00000504848.1", "UMLS:C0655775", "MESH:C000727830"], "information_content": 80.6}
{"id": "UniProtKB:Q2M3G0-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family B member 5 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q2M3G0-4", "PR:Q2M3G0-4", "ENSEMBL:ENSP00000384881", "ENSEMBL:ENSP00000384881.2"], "information_content": 100.0}
{"id": "NCBIGene:10437", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFI30", "equivalent_identifiers": ["NCBIGene:10437", "ENSEMBL:ENSG00000216490", "HGNC:5398", "OMIM:604664", "UMLS:C1415888", "UniProtKB:P13284", "PR:P13284", "ENSEMBL:ENSP00000384886", "ENSEMBL:ENSP00000384886.1", "UMLS:C1429428", "MESH:C056859"], "information_content": 83.1}
{"id": "UniProtKB:Q7Z692-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell adhesion molecule CEACAM19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z692-1", "PR:Q7Z692-1", "ENSEMBL:ENSP00000384887", "ENSEMBL:ENSP00000384887.3"], "information_content": 100.0}
{"id": "UniProtKB:A6NM10-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative aquaporin-12B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:A6NM10-2", "PR:A6NM10-2", "ENSEMBL:ENSP00000384894", "ENSEMBL:ENSP00000384894.3"], "information_content": 100.0}
{"id": "DOID:0050537", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior polar cataract", "equivalent_identifiers": ["DOID:0050537"]}
{"id": "UniProtKB:Q86YP4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcriptional repressor p66-alpha isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q86YP4-3", "PR:Q86YP4-3", "ENSEMBL:ENSP00000384899", "ENSEMBL:ENSP00000384899.2", "ENSEMBL:ENSP00000508398", "ENSEMBL:ENSP00000508398.1"], "information_content": 100.0}
{"id": "NCBIGene:6288", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAA1", "equivalent_identifiers": ["NCBIGene:6288", "ENSEMBL:ENSG00000173432", "HGNC:10513", "OMIM:104750", "UMLS:C1419799", "UniProtKB:P0DJI8", "PR:P0DJI8", "ENSEMBL:ENSP00000348918", "ENSEMBL:ENSP00000348918.4", "ENSEMBL:ENSP00000384906", "ENSEMBL:ENSP00000384906.2", "ENSEMBL:ENSP00000436866", "ENSEMBL:ENSP00000436866.1", "ENSEMBL:ENSP00000500281", "ENSEMBL:ENSP00000500281.1", "ENSEMBL:ENSP00000500630", "ENSEMBL:ENSP00000500630.1", "ENSEMBL:ENSP00000500639", "ENSEMBL:ENSP00000500639.1", "UMLS:C1958712", "UMLS:C5551373", "MESH:C521404"], "information_content": 95.4}
{"id": "NCBIGene:79680", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTL10", "equivalent_identifiers": ["NCBIGene:79680", "ENSEMBL:ENSG00000215012", "HGNC:26112", "OMIM:620751", "UMLS:C1824510", "UniProtKB:Q7L3V2", "PR:Q7L3V2", "ENSEMBL:ENSP00000330596", "ENSEMBL:ENSP00000330596.4", "ENSEMBL:ENSP00000384924", "ENSEMBL:ENSP00000384924.1", "ENSEMBL:ENSP00000386111", "ENSEMBL:ENSP00000386111.1", "UMLS:C3657483", "MESH:C581062"], "information_content": 95.4}
{"id": "NCBIGene:2835", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR12", "equivalent_identifiers": ["NCBIGene:2835", "ENSEMBL:ENSG00000132975", "HGNC:4466", "OMIM:600752", "UMLS:C1415208", "UniProtKB:A8K2F5", "UMLS:C0385143", "MESH:C097350", "UniProtKB:B4DG25", "UniProtKB:P47775", "PR:P47775", "ENSEMBL:ENSP00000370844", "ENSEMBL:ENSP00000370844.2", "ENSEMBL:ENSP00000384932", "ENSEMBL:ENSP00000384932.3"], "information_content": 95.4}
{"id": "UniProtKB:P32322-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyrroline-5-carboxylate reductase 1, mitochondrial isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P32322-3", "PR:P32322-3", "ENSEMBL:ENSP00000384949", "ENSEMBL:ENSP00000384949.2"], "information_content": 100.0}
{"id": "NCBIGene:391365", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SULT6B1", "equivalent_identifiers": ["NCBIGene:391365", "ENSEMBL:ENSG00000138068", "HGNC:33433", "OMIM:617152", "UMLS:C2240057", "UniProtKB:A0A0C4DG03", "ENSEMBL:ENSP00000384950", "ENSEMBL:ENSP00000384950.1", "UMLS:C2744097", "MESH:C544761", "UniProtKB:Q6IMI4", "PR:Q6IMI4"]}
{"id": "MONDO:0006891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "partial motor epilepsy", "equivalent_identifiers": ["MONDO:0006891", "DOID:3327", "EFO:1001089", "UMLS:C0016399", "UMLS:C5397594", "MESH:D020938", "MEDDRA:10080918", "NCIT:C50847", "SNOMEDCT:128612007", "SNOMEDCT:82401000", "medgen:5237", "HP:0011153"], "information_content": 71.4}
{"id": "NCBIGene:6183", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPS12", "equivalent_identifiers": ["NCBIGene:6183", "ENSEMBL:ENSG00000128626", "HGNC:10380", "OMIM:603021", "UMLS:C1419696", "UniProtKB:O15235", "PR:O15235", "ENSEMBL:ENSP00000308845", "ENSEMBL:ENSP00000308845.3", "ENSEMBL:ENSP00000384579", "ENSEMBL:ENSP00000384579.2", "ENSEMBL:ENSP00000384952", "ENSEMBL:ENSP00000384952.1", "ENSEMBL:ENSP00000488926", "ENSEMBL:ENSP00000488926.1", "ENSEMBL:ENSP00000489374", "ENSEMBL:ENSP00000489374.1", "ENSEMBL:ENSP00000489467", "ENSEMBL:ENSP00000489467.1"], "information_content": 92.8}
{"id": "UniProtKB:P03951-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coagulation factor XI isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P03951-1", "PR:P03951-1", "ENSEMBL:ENSP00000384957", "ENSEMBL:ENSP00000384957.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IU80-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protease serine 6 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8IU80-5", "PR:Q8IU80-5", "ENSEMBL:ENSP00000371211", "ENSEMBL:ENSP00000371211.2", "ENSEMBL:ENSP00000384964", "ENSEMBL:ENSP00000384964.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96T52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial inner membrane protease subunit 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96T52-1", "PR:Q96T52-1", "ENSEMBL:ENSP00000329553", "ENSEMBL:ENSP00000329553.3", "ENSEMBL:ENSP00000384966", "ENSEMBL:ENSP00000384966.2", "ENSEMBL:ENSP00000399353", "ENSEMBL:ENSP00000399353.1"], "information_content": 100.0}
{"id": "NCBIGene:400916", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHCHD10", "equivalent_identifiers": ["NCBIGene:400916", "ENSEMBL:ENSG00000250479", "HGNC:15559", "OMIM:615903", "UMLS:C1538423", "UniProtKB:B5MBW9", "ENSEMBL:ENSP00000384973", "ENSEMBL:ENSP00000384973.3", "ENSEMBL:ENSP00000480602", "ENSEMBL:ENSP00000480602.2", "UMLS:C2974827", "MESH:C554426", "UniProtKB:Q8WYQ3", "PR:Q8WYQ3", "ENSEMBL:ENSP00000418428", "ENSEMBL:ENSP00000418428.3", "ENSEMBL:ENSP00000487006", "ENSEMBL:ENSP00000487006.1"]}
{"id": "UniProtKB:Q9BXI6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 10A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXI6-2", "PR:Q9BXI6-2", "ENSEMBL:ENSP00000384996", "ENSEMBL:ENSP00000384996.3"], "information_content": 100.0}
{"id": "UniProtKB:O15460-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prolyl 4-hydroxylase subunit alpha-2 isoform IIb (human)", "equivalent_identifiers": ["UniProtKB:O15460-1", "PR:O15460-1", "ENSEMBL:ENSP00000166534", "ENSEMBL:ENSP00000166534.4", "ENSEMBL:ENSP00000368398", "ENSEMBL:ENSP00000368398.2", "ENSEMBL:ENSP00000384999", "ENSEMBL:ENSP00000384999.1"], "information_content": 100.0}
{"id": "UniProtKB:O00139-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF2A isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O00139-4", "PR:O00139-4", "ENSEMBL:ENSP00000385000", "ENSEMBL:ENSP00000385000.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WY91-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxynitrite isomerase THAP4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WY91-1", "PR:Q8WY91-1", "ENSEMBL:ENSP00000385006", "ENSEMBL:ENSP00000385006.1"], "information_content": 100.0}
{"id": "MONDO:0000430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mature T-cell and NK-cell non-Hodgkin lymphoma", "equivalent_identifiers": ["MONDO:0000430", "DOID:0050743", "DOID:0050749", "UMLS:C5551485", "MESH:D016411", "NCIT:C3468", "SNOMEDCT:109977009", "medgen:1790498"], "information_content": 63.9}
{"id": "UniProtKB:Q9P0X4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent T-type calcium channel subunit alpha-1I isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0X4-1", "PR:Q9P0X4-1", "ENSEMBL:ENSP00000385019", "ENSEMBL:ENSP00000385019.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NW38-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase FANCL isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NW38-2", "PR:Q9NW38-2", "ENSEMBL:ENSP00000385021", "ENSEMBL:ENSP00000385021.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8TEV9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide exchange protein SMCR8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEV9-1", "PR:Q8TEV9-1", "ENSEMBL:ENSP00000385025", "ENSEMBL:ENSP00000385025.3", "ENSEMBL:ENSP00000492062", "ENSEMBL:ENSP00000492062.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15822-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal acetylcholine receptor subunit alpha-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15822-1", "PR:Q15822-1", "ENSEMBL:ENSP00000385026", "ENSEMBL:ENSP00000385026.1"], "information_content": 100.0}
{"id": "UniProtKB:A1A5C7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 22 member 23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A1A5C7-1", "PR:A1A5C7-1", "ENSEMBL:ENSP00000385028", "ENSEMBL:ENSP00000385028.3"], "information_content": 100.0}
{"id": "NCBIGene:716", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1S", "equivalent_identifiers": ["NCBIGene:716", "ENSEMBL:ENSG00000182326", "HGNC:1247", "OMIM:120580", "UMLS:C1412937", "UniProtKB:F8WCZ6", "ENSEMBL:ENSP00000384171", "ENSEMBL:ENSP00000384171.3", "UniProtKB:P09871", "PR:P09871", "ENSEMBL:ENSP00000328173", "ENSEMBL:ENSP00000328173.3", "ENSEMBL:ENSP00000354057", "ENSEMBL:ENSP00000354057.5", "ENSEMBL:ENSP00000385035", "ENSEMBL:ENSP00000385035.1", "UMLS:C5553028"], "information_content": 89.4}
{"id": "NCBIGene:150280", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HORMAD2", "equivalent_identifiers": ["NCBIGene:150280", "ENSEMBL:ENSG00000176635", "HGNC:28383", "OMIM:618842", "UMLS:C1539675", "UniProtKB:Q8N7B1", "PR:Q8N7B1", "ENSEMBL:ENSP00000336984", "ENSEMBL:ENSP00000336984.6", "ENSEMBL:ENSP00000385055", "ENSEMBL:ENSP00000385055.1", "UMLS:C5226130", "MESH:C000654725"], "information_content": 100.0}
{"id": "UniProtKB:Q9HC16-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA dC->dU-editing enzyme APOBEC-3G isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HC16-1", "PR:Q9HC16-1", "ENSEMBL:ENSP00000385057", "ENSEMBL:ENSP00000385057.3"], "information_content": 100.0}
{"id": "UniProtKB:P16930-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fumarylacetoacetase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P16930-1", "PR:P16930-1", "ENSEMBL:ENSP00000261755", "ENSEMBL:ENSP00000261755.5", "ENSEMBL:ENSP00000385080", "ENSEMBL:ENSP00000385080.1", "ENSEMBL:ENSP00000453347", "ENSEMBL:ENSP00000453347.2"], "information_content": 100.0}
{"id": "NCBIGene:256130", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM196", "equivalent_identifiers": ["NCBIGene:256130", "ENSEMBL:ENSG00000173452", "HGNC:22431", "UMLS:C2240103", "UniProtKB:B7WNR7", "ENSEMBL:ENSP00000385087", "ENSEMBL:ENSP00000385087.2", "UniProtKB:F8WE15", "ENSEMBL:ENSP00000414247", "ENSEMBL:ENSP00000414247.1", "UniProtKB:Q5HYL7", "PR:Q5HYL7", "UMLS:C4276789", "MESH:C000608290"]}
{"id": "NCBIGene:55076", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM45A", "equivalent_identifiers": ["NCBIGene:55076", "ENSEMBL:ENSG00000181458", "HGNC:25480", "OMIM:616928", "UMLS:C1540018", "UniProtKB:J3KQ06", "ENSEMBL:ENSP00000385089", "ENSEMBL:ENSP00000385089.1", "UniProtKB:Q9NWC5", "PR:Q9NWC5", "ENSEMBL:ENSP00000319009", "ENSEMBL:ENSP00000319009.4", "UMLS:C3659329", "MESH:C581204"]}
{"id": "UniProtKB:Q8N5Z5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein KCTD17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5Z5-1", "PR:Q8N5Z5-1", "ENSEMBL:ENSP00000385096", "ENSEMBL:ENSP00000385096.4"], "information_content": 100.0}
{"id": "UniProtKB:Q96Q35-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "flagellum-associated coiled-coil domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q35-1", "PR:Q96Q35-1", "ENSEMBL:ENSP00000286190", "ENSEMBL:ENSP00000286190.5", "ENSEMBL:ENSP00000385098", "ENSEMBL:ENSP00000385098.2"], "information_content": 100.0}
{"id": "MONDO:0003414", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin pilomatrix carcinoma", "equivalent_identifiers": ["MONDO:0003414", "DOID:5376", "orphanet:499182", "UMLS:C0585475", "MEDDRA:10075614", "NCIT:C4114", "SNOMEDCT:24762001", "SNOMEDCT:307610008", "medgen:108439"], "information_content": 100.0}
{"id": "NCBIGene:54471", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MIEF1", "equivalent_identifiers": ["NCBIGene:54471", "ENSEMBL:ENSG00000100335", "HGNC:25979", "OMIM:615497", "UMLS:C1822784", "UniProtKB:B0QY95", "ENSEMBL:ENSP00000385110", "ENSEMBL:ENSP00000385110.1", "UMLS:C3254733", "MESH:C561316", "UniProtKB:Q9NQG6", "PR:Q9NQG6"]}
{"id": "UniProtKB:Q569H4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Largen isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q569H4-1", "PR:Q569H4-1", "ENSEMBL:ENSP00000385118", "ENSEMBL:ENSP00000385118.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULB1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurexin-1-alpha isoform a6 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULB1-3", "PR:Q9ULB1-3", "ENSEMBL:ENSP00000385142", "ENSEMBL:ENSP00000385142.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXZ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "netrin receptor UNC5D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXZ4-1", "PR:Q6UXZ4-1", "ENSEMBL:ENSP00000385143", "ENSEMBL:ENSP00000385143.2"], "information_content": 100.0}
{"id": "UniProtKB:Q3B820-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM161A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q3B820-3", "PR:Q3B820-3", "ENSEMBL:ENSP00000385158", "ENSEMBL:ENSP00000385158.1"], "information_content": 100.0}
{"id": "NCBIGene:22864", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "R3HDM2", "equivalent_identifiers": ["NCBIGene:22864", "ENSEMBL:ENSG00000179912", "HGNC:29167", "OMIM:619886", "UMLS:C1826753", "UniProtKB:A0A0U1RRA6", "ENSEMBL:ENSP00000489424", "ENSEMBL:ENSP00000489424.1", "UniProtKB:B5MCG9", "ENSEMBL:ENSP00000385169", "ENSEMBL:ENSP00000385169.2", "UniProtKB:B5MCU0", "ENSEMBL:ENSP00000385839", "ENSEMBL:ENSP00000385839.1", "UniProtKB:Q9Y2K5", "PR:Q9Y2K5"]}
{"id": "UniProtKB:Q9NRD5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PRKCA-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRD5-1", "PR:Q9NRD5-1", "ENSEMBL:ENSP00000349465", "ENSEMBL:ENSP00000349465.3", "ENSEMBL:ENSP00000385205", "ENSEMBL:ENSP00000385205.3"], "information_content": 100.0}
{"id": "NCBIGene:9514", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GAL3ST1", "equivalent_identifiers": ["NCBIGene:9514", "ENSEMBL:ENSG00000128242", "HGNC:24240", "OMIM:602300", "UMLS:C1428362", "UniProtKB:B2R7S4", "UniProtKB:Q99999", "PR:Q99999", "ENSEMBL:ENSP00000343234", "ENSEMBL:ENSP00000343234.5", "ENSEMBL:ENSP00000384122", "ENSEMBL:ENSP00000384122.1", "ENSEMBL:ENSP00000384388", "ENSEMBL:ENSP00000384388.1", "ENSEMBL:ENSP00000385207", "ENSEMBL:ENSP00000385207.1", "ENSEMBL:ENSP00000385735", "ENSEMBL:ENSP00000385735.1", "ENSEMBL:ENSP00000385825", "ENSEMBL:ENSP00000385825.1"], "information_content": 89.4}
{"id": "UniProtKB:Q5TB80-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 162 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TB80-1", "PR:Q5TB80-1", "ENSEMBL:ENSP00000385215", "ENSEMBL:ENSP00000385215.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15788-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor coactivator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15788-1", "PR:Q15788-1", "ENSEMBL:ENSP00000320940", "ENSEMBL:ENSP00000320940.5", "ENSEMBL:ENSP00000385216", "ENSEMBL:ENSP00000385216.1"], "information_content": 100.0}
{"id": "NCBIGene:120071", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LARGE2", "equivalent_identifiers": ["NCBIGene:120071", "ENSEMBL:ENSG00000165905", "HGNC:16522", "OMIM:609709", "UMLS:C1825437", "UniProtKB:B3KP69", "UMLS:C1569013", "MESH:C500430", "UniProtKB:E9PIZ2", "ENSEMBL:ENSP00000431932", "ENSEMBL:ENSP00000431932.1", "UniProtKB:Q8N3Y3", "PR:Q8N3Y3", "ENSEMBL:ENSP00000324570", "ENSEMBL:ENSP00000324570.5", "ENSEMBL:ENSP00000385235", "ENSEMBL:ENSP00000385235.1", "ENSEMBL:ENSP00000432869", "ENSEMBL:ENSP00000432869.1"], "information_content": 100.0}
{"id": "UniProtKB:A8MX76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calpain-14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A8MX76-1", "PR:A8MX76-1", "ENSEMBL:ENSP00000385247", "ENSEMBL:ENSP00000385247.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15717-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ELAV-like protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15717-1", "PR:Q15717-1", "ENSEMBL:ENSP00000385269", "ENSEMBL:ENSP00000385269.1", "ENSEMBL:ENSP00000472197", "ENSEMBL:ENSP00000472197.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0A6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RING finger protein 32 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0A6-1", "PR:Q9H0A6-1", "ENSEMBL:ENSP00000315950", "ENSEMBL:ENSP00000315950.5", "ENSEMBL:ENSP00000376499", "ENSEMBL:ENSP00000376499.2", "ENSEMBL:ENSP00000385285", "ENSEMBL:ENSP00000385285.1", "ENSEMBL:ENSP00000405588", "ENSEMBL:ENSP00000405588.2"], "information_content": 100.0}
{"id": "MONDO:0014665", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2V", "equivalent_identifiers": ["MONDO:0014665", "DOID:0110178", "OMIM:616491", "orphanet:447964", "UMLS:C5569050", "SNOMEDCT:1187618009", "medgen:1800473"], "information_content": 100.0}
{"id": "NCBIGene:24146", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN15", "equivalent_identifiers": ["NCBIGene:24146", "ENSEMBL:ENSG00000106404", "HGNC:2036", "OMIM:615778", "UMLS:C1413464", "UniProtKB:P56746", "PR:P56746", "ENSEMBL:ENSP00000308870", "ENSEMBL:ENSP00000308870.5", "ENSEMBL:ENSP00000385300", "ENSEMBL:ENSP00000385300.1", "UMLS:C1570893"], "information_content": 100.0}
{"id": "UniProtKB:Q9HC21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial thiamine pyrophosphate carrier isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HC21-1", "PR:Q9HC21-1", "ENSEMBL:ENSP00000319574", "ENSEMBL:ENSP00000319574.3", "ENSEMBL:ENSP00000385312", "ENSEMBL:ENSP00000385312.3", "ENSEMBL:ENSP00000397818", "ENSEMBL:ENSP00000397818.2", "ENSEMBL:ENSP00000402202", "ENSEMBL:ENSP00000402202.2", "ENSEMBL:ENSP00000463795", "ENSEMBL:ENSP00000463795.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6D9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitotic spindle assembly checkpoint protein MAD1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6D9-1", "PR:Q9Y6D9-1", "ENSEMBL:ENSP00000265854", "ENSEMBL:ENSP00000265854.7", "ENSEMBL:ENSP00000382562", "ENSEMBL:ENSP00000382562.2", "ENSEMBL:ENSP00000385334", "ENSEMBL:ENSP00000385334.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6NXT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane anterior posterior transformation protein 1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NXT6-1", "PR:Q6NXT6-1", "ENSEMBL:ENSP00000385347", "ENSEMBL:ENSP00000385347.2"], "information_content": 100.0}
{"id": "NCBIGene:7441", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VPREB1", "equivalent_identifiers": ["NCBIGene:7441", "ENSEMBL:ENSG00000169575", "HGNC:12709", "OMIM:605141", "UMLS:C1421462", "UniProtKB:P12018", "PR:P12018", "ENSEMBL:ENSP00000385361", "ENSEMBL:ENSP00000385361.3"], "information_content": 95.4}
{"id": "UniProtKB:Q15084-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein disulfide-isomerase A6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15084-2", "PR:Q15084-2", "ENSEMBL:ENSP00000385385", "ENSEMBL:ENSP00000385385.2", "ENSEMBL:ENSP00000481892", "ENSEMBL:ENSP00000481892.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14978-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolar and coiled-body phosphoprotein 1 isoform Beta (human)", "equivalent_identifiers": ["UniProtKB:Q14978-2", "PR:Q14978-2", "ENSEMBL:ENSP00000385410", "ENSEMBL:ENSP00000385410.1"], "information_content": 100.0}
{"id": "NCBIGene:102724473", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GAGE10", "equivalent_identifiers": ["NCBIGene:102724473", "ENSEMBL:ENSG00000215274", "HGNC:30968", "OMIM:300737", "UMLS:C1825328", "UniProtKB:A6NGK3", "PR:A6NGK3", "ENSEMBL:ENSP00000385415", "ENSEMBL:ENSP00000385415.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NPP4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NLR family CARD domain-containing protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPP4-1", "PR:Q9NPP4-1", "ENSEMBL:ENSP00000354159", "ENSEMBL:ENSP00000354159.5", "ENSEMBL:ENSP00000385428", "ENSEMBL:ENSP00000385428.1"], "information_content": 100.0}
{"id": "NCBIGene:51128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAR1B", "equivalent_identifiers": ["NCBIGene:51128", "ENSEMBL:ENSG00000152700", "HGNC:10535", "OMIM:607690", "UMLS:C1419816", "UniProtKB:Q9H029", "ENSEMBL:ENSP00000424673", "ENSEMBL:ENSP00000424673.1", "ENSEMBL:ENSP00000425339", "ENSEMBL:ENSP00000425339.1", "ENSEMBL:ENSP00000426335", "ENSEMBL:ENSP00000426335.1", "UniProtKB:Q9Y6B6", "PR:Q9Y6B6", "ENSEMBL:ENSP00000385432", "ENSEMBL:ENSP00000385432.2", "ENSEMBL:ENSP00000404997", "ENSEMBL:ENSP00000404997.1", "UMLS:C1528775", "MESH:C513282"], "information_content": 92.8}
{"id": "NCBIGene:222967", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RSPH10B", "equivalent_identifiers": ["NCBIGene:222967", "ENSEMBL:ENSG00000155026", "HGNC:27362", "UMLS:C2239912", "UniProtKB:P0C881", "PR:P0C881", "ENSEMBL:ENSP00000338556", "ENSEMBL:ENSP00000338556.3", "ENSEMBL:ENSP00000384097", "ENSEMBL:ENSP00000384097.1", "ENSEMBL:ENSP00000385443", "ENSEMBL:ENSP00000385443.1"], "information_content": 100.0}
{"id": "UniProtKB:P21741-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "midkine isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P21741-1", "PR:P21741-1", "ENSEMBL:ENSP00000352852", "ENSEMBL:ENSP00000352852.2", "ENSEMBL:ENSP00000378932", "ENSEMBL:ENSP00000378932.1", "ENSEMBL:ENSP00000378933", "ENSEMBL:ENSP00000378933.4", "ENSEMBL:ENSP00000384034", "ENSEMBL:ENSP00000384034.1", "ENSEMBL:ENSP00000385451", "ENSEMBL:ENSP00000385451.2"], "information_content": 100.0}
{"id": "NCBIGene:51270", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TFDP3", "equivalent_identifiers": ["NCBIGene:51270", "ENSEMBL:ENSG00000183434", "HGNC:24603", "OMIM:300772", "UMLS:C1539954", "UniProtKB:Q5H9I0", "PR:Q5H9I0", "ENSEMBL:ENSP00000385461", "ENSEMBL:ENSP00000385461.1", "UMLS:C1871603", "MESH:C516920"], "information_content": 100.0}
{"id": "MONDO:0009310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2", "equivalent_identifiers": ["MONDO:0009310", "DOID:0070191", "OMIM:233710", "UMLS:C1856245", "MESH:C565531", "medgen:383869"], "information_content": 100.0}
{"id": "NCBIGene:8995", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFSF18", "equivalent_identifiers": ["NCBIGene:8995", "ENSEMBL:ENSG00000120337", "HGNC:11932", "OMIM:603898", "UMLS:C1420818", "UniProtKB:A0A0U5JXL4", "UniProtKB:Q9UNG2", "PR:Q9UNG2", "ENSEMBL:ENSP00000385470", "ENSEMBL:ENSP00000385470.4", "UMLS:C1313262", "MESH:C478967"], "information_content": 100.0}
{"id": "NCBIGene:7122", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN5", "equivalent_identifiers": ["NCBIGene:7122", "ENSEMBL:ENSG00000184113", "HGNC:2047", "OMIM:602101", "UMLS:C1413475", "UniProtKB:D3DX19", "ENSEMBL:ENSP00000384554", "ENSEMBL:ENSP00000384554.1", "ENSEMBL:ENSP00000385477", "ENSEMBL:ENSP00000385477.1", "ENSEMBL:ENSP00000400612", "ENSEMBL:ENSP00000400612.2", "UMLS:C1384625", "MESH:C107466", "UniProtKB:O00501", "PR:O00501", "ENSEMBL:ENSP00000480623", "ENSEMBL:ENSP00000480623.1"]}
{"id": "MONDO:0019143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiostrongyliasis", "equivalent_identifiers": ["MONDO:0019143", "DOID:0050256", "orphanet:74", "UMLS:C0392662", "UMLS:C4316792", "MESH:C536369", "MEDDRA:10069517", "NCIT:C128394", "SNOMEDCT:61750000", "medgen:98230", "icd11.foundation:1768378720"], "information_content": 100.0}
{"id": "UniProtKB:A4D126-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D-ribitol-5-phosphate cytidylyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A4D126-1", "PR:A4D126-1", "ENSEMBL:ENSP00000385478", "ENSEMBL:ENSP00000385478.2"], "information_content": 100.0}
{"id": "MONDO:0002613", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "histrionic personality disorder", "equivalent_identifiers": ["MONDO:0002613", "DOID:334", "UMLS:C0019681", "MESH:D006677", "MEDDRA:10020154", "MEDDRA:10020155", "MEDDRA:10020156", "MEDDRA:10021164", "MEDDRA:10021165", "NCIT:C92634", "SNOMEDCT:55341008", "medgen:9276", "icd11.foundation:953661315", "ICD10:F60.4", "ICD9:301.5", "HP:0012077"], "information_content": 100.0}
{"id": "MONDO:0003709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "agoraphobia", "equivalent_identifiers": ["MONDO:0003709", "DOID:593", "EFO:1001872", "UMLS:C0001818", "MESH:D000379", "MEDDRA:10001502", "MEDDRA:10016279", "NCIT:C34362", "SNOMEDCT:247830007", "SNOMEDCT:70691001", "medgen:175", "icd11.foundation:530592394", "ICD10:F40.0", "HP:0000756"], "information_content": 95.4}
{"id": "NCBIGene:644186", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYCE3", "equivalent_identifiers": ["NCBIGene:644186", "ENSEMBL:ENSG00000217442", "HGNC:35245", "OMIM:615775", "UMLS:C2681319", "UniProtKB:A1L190", "PR:A1L190", "ENSEMBL:ENSP00000385122", "ENSEMBL:ENSP00000385122.1", "ENSEMBL:ENSP00000385480", "ENSEMBL:ENSP00000385480.3"], "information_content": 95.4}
{"id": "NCBIGene:255349", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LHFPL7", "equivalent_identifiers": ["NCBIGene:255349", "ENSEMBL:ENSG00000206069", "HGNC:33725", "UMLS:C2680477", "UniProtKB:A0A0C4DG04", "ENSEMBL:ENSP00000385494", "ENSEMBL:ENSP00000385494.1", "UniProtKB:Q6ICI0", "PR:Q6ICI0", "ENSEMBL:ENSP00000492160", "ENSEMBL:ENSP00000492160.1"]}
{"id": "MONDO:0011087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 2", "equivalent_identifiers": ["MONDO:0011087", "DOID:0110900", "OMIM:601458", "UMLS:C1832321", "MESH:C563310", "medgen:321934"], "information_content": 100.0}
{"id": "NCBIGene:29899", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPSM2", "equivalent_identifiers": ["NCBIGene:29899", "ENSEMBL:ENSG00000121957", "HGNC:29501", "OMIM:609245", "UMLS:C1428865", "UniProtKB:B4DIF1", "UMLS:C1430532", "MESH:C102754", "UniProtKB:P81274", "PR:P81274", "ENSEMBL:ENSP00000264126", "ENSEMBL:ENSP00000264126.3", "ENSEMBL:ENSP00000385510", "ENSEMBL:ENSP00000385510.1", "ENSEMBL:ENSP00000392138", "ENSEMBL:ENSP00000392138.2", "ENSEMBL:ENSP00000496104", "ENSEMBL:ENSP00000496104.1", "ENSEMBL:ENSP00000496756", "ENSEMBL:ENSP00000496756.2", "ENSEMBL:ENSP00000502178", "ENSEMBL:ENSP00000502178.1"], "information_content": 90.9}
{"id": "UniProtKB:Q07869-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisome proliferator-activated receptor alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q07869-1", "PR:Q07869-1", "ENSEMBL:ENSP00000385246", "ENSEMBL:ENSP00000385246.1", "ENSEMBL:ENSP00000385523", "ENSEMBL:ENSP00000385523.1"], "information_content": 100.0}
{"id": "UniProtKB:Q2KJY2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF26B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2KJY2-1", "PR:Q2KJY2-1", "ENSEMBL:ENSP00000385545", "ENSEMBL:ENSP00000385545.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2X6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeodomain-interacting protein kinase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2X6-1", "PR:Q9H2X6-1", "ENSEMBL:ENSP00000385571", "ENSEMBL:ENSP00000385571.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6NSI8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SANT and BTB domain regulator of class switch recombination isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NSI8-1", "PR:Q6NSI8-1", "ENSEMBL:ENSP00000385579", "ENSEMBL:ENSP00000385579.1", "ENSEMBL:ENSP00000416795", "ENSEMBL:ENSP00000416795.1"], "information_content": 100.0}
{"id": "UniProtKB:P35452-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Hox-D12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35452-1", "PR:P35452-1", "ENSEMBL:ENSP00000385586", "ENSEMBL:ENSP00000385586.2"], "information_content": 100.0}
{"id": "NCBIGene:51320", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MEX3C", "equivalent_identifiers": ["NCBIGene:51320", "ENSEMBL:ENSG00000176624", "HGNC:28040", "OMIM:611005", "UMLS:C1538844", "UniProtKB:Q5U5Q3", "PR:Q5U5Q3", "ENSEMBL:ENSP00000385610", "ENSEMBL:ENSP00000385610.3", "UMLS:C1872481", "MESH:C515359"], "information_content": 95.4}
{"id": "UniProtKB:Q9UH99-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SUN domain-containing protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UH99-2", "PR:Q9UH99-2", "ENSEMBL:ENSP00000385616", "ENSEMBL:ENSP00000385616.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13946-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "high affinity 3',5'-cyclic-AMP phosphodiesterase 7A isoform PDE7A1 (human)", "equivalent_identifiers": ["UniProtKB:Q13946-1", "PR:Q13946-1", "ENSEMBL:ENSP00000385632", "ENSEMBL:ENSP00000385632.4"], "information_content": 100.0}
{"id": "UniProtKB:O75147-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "obscurin-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75147-3", "PR:O75147-3", "ENSEMBL:ENSP00000385636", "ENSEMBL:ENSP00000385636.1"], "information_content": 100.0}
{"id": "NCBIGene:3569", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL6", "equivalent_identifiers": ["NCBIGene:3569", "ENSEMBL:ENSG00000136244", "HGNC:6018", "OMIM:147620", "UMLS:C1334122", "UniProtKB:B4DNQ5", "UniProtKB:B4DVM1", "UniProtKB:B5MC21", "ENSEMBL:ENSP00000385043", "ENSEMBL:ENSP00000385043.1", "UniProtKB:B5MCZ3", "ENSEMBL:ENSP00000384928", "ENSEMBL:ENSP00000384928.3", "UniProtKB:P05231", "PR:P05231", "ENSEMBL:ENSP00000258743", "ENSEMBL:ENSP00000258743.5", "ENSEMBL:ENSP00000385675", "ENSEMBL:ENSP00000385675.1", "UMLS:C0878479", "UMLS:C1527132", "UMLS:C1698754", "MESH:C508600", "UniProtKB:Q75MH2"], "information_content": 89.4}
{"id": "UniProtKB:Q6IC98-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GRAM domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IC98-1", "PR:Q6IC98-1", "ENSEMBL:ENSP00000354313", "ENSEMBL:ENSP00000354313.3", "ENSEMBL:ENSP00000385689", "ENSEMBL:ENSP00000385689.1"], "information_content": 100.0}
{"id": "NCBIGene:5670", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSG2", "equivalent_identifiers": ["NCBIGene:5670", "ENSEMBL:ENSG00000242221", "HGNC:9519", "OMIM:176391", "UMLS:C1418994", "UniProtKB:P11465", "PR:P11465", "ENSEMBL:ENSP00000385706", "ENSEMBL:ENSP00000385706.1"], "information_content": 95.4}
{"id": "NCBIGene:26173", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INTS1", "equivalent_identifiers": ["NCBIGene:26173", "ENSEMBL:ENSG00000164880", "HGNC:24555", "OMIM:611345", "UMLS:C1825603", "UniProtKB:Q8N201", "PR:Q8N201", "ENSEMBL:ENSP00000385722", "ENSEMBL:ENSP00000385722.3"], "information_content": 85.5}
{"id": "NCBIGene:5435", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR2F", "equivalent_identifiers": ["NCBIGene:5435", "ENSEMBL:ENSG00000100142", "HGNC:9193", "OMIM:604414", "UMLS:C1418744", "UniProtKB:B0QYL9", "ENSEMBL:ENSP00000385725", "ENSEMBL:ENSP00000385725.1", "UMLS:C2354225", "MESH:C529315", "UniProtKB:F8WC47", "ENSEMBL:ENSP00000406826", "ENSEMBL:ENSP00000406826.1", "UniProtKB:P61218", "PR:P61218", "ENSEMBL:ENSP00000403852", "ENSEMBL:ENSP00000403852.2"]}
{"id": "UniProtKB:O15021-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microtubule-associated serine/threonine-protein kinase 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15021-5", "PR:O15021-5", "ENSEMBL:ENSP00000385727", "ENSEMBL:ENSP00000385727.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3KPI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell adhesion molecule CEACAM21 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3KPI0-1", "PR:Q3KPI0-1", "ENSEMBL:ENSP00000385739", "ENSEMBL:ENSP00000385739.2", "ENSEMBL:ENSP00000487532", "ENSEMBL:ENSP00000487532.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6NTF7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA dC->dU-editing enzyme APOBEC-3H isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NTF7-1", "PR:Q6NTF7-1", "ENSEMBL:ENSP00000385741", "ENSEMBL:ENSP00000385741.1", "ENSEMBL:ENSP00000483689", "ENSEMBL:ENSP00000483689.1"], "information_content": 100.0}
{"id": "UniProtKB:P52788-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermine synthase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P52788-1", "PR:P52788-1", "ENSEMBL:ENSP00000385746", "ENSEMBL:ENSP00000385746.2"], "information_content": 100.0}
{"id": "NCBIGene:5575", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRKAR1B", "equivalent_identifiers": ["NCBIGene:5575", "ENSEMBL:ENSG00000188191", "HGNC:9390", "OMIM:176911", "UMLS:C1418909", "UniProtKB:P31321", "PR:P31321", "ENSEMBL:ENSP00000353415", "ENSEMBL:ENSP00000353415.4", "ENSEMBL:ENSP00000385349", "ENSEMBL:ENSP00000385349.1", "ENSEMBL:ENSP00000385749", "ENSEMBL:ENSP00000385749.1", "ENSEMBL:ENSP00000440449", "ENSEMBL:ENSP00000440449.1", "ENSEMBL:ENSP00000444487", "ENSEMBL:ENSP00000444487.1", "UMLS:C1870772", "MESH:C517766"], "information_content": 90.9}
{"id": "UniProtKB:Q7KZI7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase MARK2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7KZI7-1", "PR:Q7KZI7-1", "ENSEMBL:ENSP00000385751", "ENSEMBL:ENSP00000385751.2"], "information_content": 100.0}
{"id": "NCBIGene:644", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BLVRA", "equivalent_identifiers": ["NCBIGene:644", "ENSEMBL:ENSG00000106605", "HGNC:1062", "OMIM:109750", "UMLS:C1412801", "UniProtKB:A0A140VJF4", "UMLS:C5197164", "MESH:C000631253", "UniProtKB:P53004", "PR:P53004", "ENSEMBL:ENSP00000265523", "ENSEMBL:ENSP00000265523.4", "ENSEMBL:ENSP00000385757", "ENSEMBL:ENSP00000385757.1", "UMLS:C4724722"], "information_content": 95.4}
{"id": "UniProtKB:Q14914-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostaglandin reductase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14914-1", "PR:Q14914-1", "ENSEMBL:ENSP00000311572", "ENSEMBL:ENSP00000311572.5", "ENSEMBL:ENSP00000385763", "ENSEMBL:ENSP00000385763.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6T7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diacylglycerol kinase beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6T7-1", "PR:Q9Y6T7-1", "ENSEMBL:ENSP00000382260", "ENSEMBL:ENSP00000382260.3", "ENSEMBL:ENSP00000385780", "ENSEMBL:ENSP00000385780.2"], "information_content": 100.0}
{"id": "NCBIGene:10940", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POP1", "equivalent_identifiers": ["NCBIGene:10940", "ENSEMBL:ENSG00000104356", "HGNC:30129", "OMIM:602486", "UMLS:C1428935", "UniProtKB:Q96F88", "UMLS:C1311278", "MESH:C490350", "UniProtKB:Q99575", "PR:Q99575", "ENSEMBL:ENSP00000339529", "ENSEMBL:ENSP00000339529.3", "ENSEMBL:ENSP00000385787", "ENSEMBL:ENSP00000385787.2"], "information_content": 100.0}
{"id": "UniProtKB:O94880-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PHD finger protein 14 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O94880-1", "PR:O94880-1", "ENSEMBL:ENSP00000385795", "ENSEMBL:ENSP00000385795.3"], "information_content": 100.0}
{"id": "NCBIGene:11127", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIF3A", "equivalent_identifiers": ["NCBIGene:11127", "ENSEMBL:ENSG00000131437", "HGNC:6319", "OMIM:604683", "UMLS:C1416634", "UniProtKB:B4DHG8", "UMLS:C1504737", "MESH:C087415", "UniProtKB:E9PES4", "ENSEMBL:ENSP00000385808", "ENSEMBL:ENSP00000385808.1", "UniProtKB:J3KPF9", "ENSEMBL:ENSP00000368009", "ENSEMBL:ENSP00000368009.1", "UniProtKB:Q05CT3", "UniProtKB:Q9Y496", "PR:Q9Y496", "ENSEMBL:ENSP00000368020", "ENSEMBL:ENSP00000368020.3"]}
{"id": "UniProtKB:Q86UA6-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RPA-interacting protein isoform h8 (human)", "equivalent_identifiers": ["UniProtKB:Q86UA6-8", "PR:Q86UA6-8", "ENSEMBL:ENSP00000385814", "ENSEMBL:ENSP00000385814.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BTC8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metastasis-associated protein MTA3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTC8-1", "PR:Q9BTC8-1", "ENSEMBL:ENSP00000385823", "ENSEMBL:ENSP00000385823.1"], "information_content": 100.0}
{"id": "NCBIGene:7263", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TST", "equivalent_identifiers": ["NCBIGene:7263", "ENSEMBL:ENSG00000128311", "HGNC:12388", "OMIM:180370", "UMLS:C1421210", "UniProtKB:A0A384NKQ2", "UniProtKB:Q16762", "PR:Q16762", "ENSEMBL:ENSP00000249042", "ENSEMBL:ENSP00000249042.3", "ENSEMBL:ENSP00000385828", "ENSEMBL:ENSP00000385828.3", "ENSEMBL:ENSP00000478739", "ENSEMBL:ENSP00000478739.1"], "information_content": 84.2}
{"id": "MONDO:0014103", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 18 with or without anosmia", "equivalent_identifiers": ["MONDO:0014103", "DOID:0090076", "OMIM:615267", "UMLS:C3808975", "medgen:815305"], "information_content": 100.0}
{"id": "NCBIGene:7018", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TF", "equivalent_identifiers": ["NCBIGene:7018", "ENSEMBL:ENSG00000091513", "HGNC:11740", "OMIM:190000", "UMLS:C1442762", "UniProtKB:A0PJA6", "UniProtKB:P02787", "PR:P02787", "ENSEMBL:ENSP00000385834", "ENSEMBL:ENSP00000385834.3", "UMLS:C4048587", "UniProtKB:Q06AH7"], "information_content": 73.1}
{"id": "MONDO:0007219", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Osebold-Remondini syndrome", "equivalent_identifiers": ["MONDO:0007219", "DOID:0110968", "OMIM:112910", "orphanet:93382", "UMLS:C1862130", "MESH:C537092", "SNOMEDCT:715722003", "medgen:350598"], "information_content": 100.0}
{"id": "UniProtKB:Q5JW98-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium homeostasis modulator protein 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5JW98-3", "PR:Q5JW98-3", "ENSEMBL:ENSP00000385836", "ENSEMBL:ENSP00000385836.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TEW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "partitioning defective 3 homolog B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEW8-1", "PR:Q8TEW8-1", "ENSEMBL:ENSP00000385848", "ENSEMBL:ENSP00000385848.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0A6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase SETD5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0A6-1", "PR:Q9C0A6-1", "ENSEMBL:ENSP00000383939", "ENSEMBL:ENSP00000383939.1", "ENSEMBL:ENSP00000385852", "ENSEMBL:ENSP00000385852.2"], "information_content": 100.0}
{"id": "NCBIGene:285193", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUSP28", "equivalent_identifiers": ["NCBIGene:285193", "ENSEMBL:ENSG00000188542", "HGNC:33237", "UMLS:C1824993", "UniProtKB:Q4G0W2", "PR:Q4G0W2", "ENSEMBL:ENSP00000344235", "ENSEMBL:ENSP00000344235.2", "ENSEMBL:ENSP00000385885", "ENSEMBL:ENSP00000385885.2", "UMLS:C5391619", "MESH:C000706673"], "information_content": 100.0}
{"id": "UniProtKB:Q8IV61-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras guanyl-releasing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IV61-1", "PR:Q8IV61-1", "ENSEMBL:ENSP00000384192", "ENSEMBL:ENSP00000384192.3", "ENSEMBL:ENSP00000385886", "ENSEMBL:ENSP00000385886.3"], "information_content": 100.0}
{"id": "NCBIGene:51281", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKMY1", "equivalent_identifiers": ["NCBIGene:51281", "ENSEMBL:ENSG00000144504", "HGNC:20987", "OMIM:620842", "UMLS:C1427225", "UniProtKB:B5MBY4", "ENSEMBL:ENSP00000384555", "ENSEMBL:ENSP00000384555.1", "UniProtKB:J3KPY5", "ENSEMBL:ENSP00000383968", "ENSEMBL:ENSP00000383968.1", "UniProtKB:J3KQ07", "ENSEMBL:ENSP00000385145", "ENSEMBL:ENSP00000385145.1", "UniProtKB:J3KQ21", "ENSEMBL:ENSP00000385887", "ENSEMBL:ENSP00000385887.1", "UniProtKB:Q6GPI0", "ENSEMBL:ENSP00000362415", "ENSEMBL:ENSP00000362415.2", "UniProtKB:Q9P2S6", "PR:Q9P2S6"]}
{"id": "DOID:4668", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital kyphosis", "equivalent_identifiers": ["DOID:4668"]}
{"id": "NCBIGene:55041", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLEKHB2", "equivalent_identifiers": ["NCBIGene:55041", "ENSEMBL:ENSG00000115762", "HGNC:19236", "OMIM:618452", "UMLS:C1426103", "UniProtKB:A0A0A0MSE9", "ENSEMBL:ENSP00000385892", "ENSEMBL:ENSP00000385892.2", "UMLS:C1434273", "MESH:C118742", "UniProtKB:A0A0A0MSI4", "ENSEMBL:ENSP00000389629", "ENSEMBL:ENSP00000389629.3", "UniProtKB:B4DJB7", "UniProtKB:Q96CS7", "PR:Q96CS7"]}
{"id": "UniProtKB:Q7Z5N4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein sidekick-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5N4-1", "PR:Q7Z5N4-1", "ENSEMBL:ENSP00000385899", "ENSEMBL:ENSP00000385899.2"], "information_content": 100.0}
{"id": "MONDO:0014081", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to CARD11 deficiency", "equivalent_identifiers": ["MONDO:0014081", "DOID:0111957", "OMIM:615206", "orphanet:357237", "UMLS:C3554686", "medgen:767600"], "information_content": 100.0}
{"id": "UniProtKB:P24855-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deoxyribonuclease-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P24855-1", "PR:P24855-1", "ENSEMBL:ENSP00000246949", "ENSEMBL:ENSP00000246949.5", "ENSEMBL:ENSP00000385905", "ENSEMBL:ENSP00000385905.1"], "information_content": 100.0}
{"id": "NCBIGene:4924", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUCB1", "equivalent_identifiers": ["NCBIGene:4924", "ENSEMBL:ENSG00000104805", "HGNC:8043", "OMIM:601323", "UMLS:C1417874", "UniProtKB:A8K7Q1", "UMLS:C1612085", "MESH:C000630649", "UniProtKB:Q02818", "PR:Q02818", "ENSEMBL:ENSP00000385211", "ENSEMBL:ENSP00000385211.1", "ENSEMBL:ENSP00000385923", "ENSEMBL:ENSP00000385923.3", "ENSEMBL:ENSP00000397201", "ENSEMBL:ENSP00000397201.2", "ENSEMBL:ENSP00000410519", "ENSEMBL:ENSP00000410519.2", "ENSEMBL:ENSP00000516525", "ENSEMBL:ENSP00000516525.1"], "information_content": 83.1}
{"id": "NCBIGene:341019", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCDC1", "equivalent_identifiers": ["NCBIGene:341019", "ENSEMBL:ENSG00000170959", "HGNC:20625", "OMIM:608062", "UMLS:C1427037", "UniProtKB:A0A804HJA9", "ENSEMBL:ENSP00000507427", "ENSEMBL:ENSP00000507427.1", "UniProtKB:B6ZDN3", "ENSEMBL:ENSP00000385936", "ENSEMBL:ENSP00000385936.3", "UMLS:C5564788", "MESH:C000714327", "UniProtKB:M0R2J8", "PR:M0R2J8"]}
{"id": "MONDO:0007628", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "foveal hypoplasia 1", "equivalent_identifiers": ["MONDO:0007628", "DOID:0070530", "OMIM:136520", "UMLS:C3805604", "medgen:811934"], "information_content": 100.0}
{"id": "UniProtKB:P17014-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P17014-1", "PR:P17014-1", "ENSEMBL:ENSP00000385939", "ENSEMBL:ENSP00000385939.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3ZCT8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch repeat and BTB domain-containing protein 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3ZCT8-1", "PR:Q3ZCT8-1", "ENSEMBL:ENSP00000385879", "ENSEMBL:ENSP00000385879.1", "ENSEMBL:ENSP00000385957", "ENSEMBL:ENSP00000385957.1"], "information_content": 100.0}
{"id": "MONDO:0001216", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pulp degeneration", "equivalent_identifiers": ["MONDO:0001216", "DOID:11189", "UMLS:C0034100", "MEDDRA:10037462", "NCIT:C34962", "SNOMEDCT:22361007", "medgen:19578", "icd11.foundation:868011012", "ICD10:K04.2", "ICD9:522.2"], "information_content": 100.0}
{"id": "NCBIGene:6208", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS14", "equivalent_identifiers": ["NCBIGene:6208", "ENSEMBL:ENSG00000164587", "HGNC:10387", "OMIM:130620", "UMLS:C1419703", "UniProtKB:P62263", "PR:P62263", "ENSEMBL:ENSP00000311028", "ENSEMBL:ENSP00000311028.5", "ENSEMBL:ENSP00000385425", "ENSEMBL:ENSP00000385425.1", "ENSEMBL:ENSP00000385958", "ENSEMBL:ENSP00000385958.3", "ENSEMBL:ENSP00000428509", "ENSEMBL:ENSP00000428509.1", "UMLS:C2351556", "UMLS:C3539647", "MESH:C526722"], "information_content": 85.5}
{"id": "NCBIGene:3790", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNS3", "equivalent_identifiers": ["NCBIGene:3790", "ENSEMBL:ENSG00000170745", "HGNC:6302", "OMIM:603888", "UMLS:C1416620", "UniProtKB:Q9BQ31", "PR:Q9BQ31", "ENSEMBL:ENSP00000305824", "ENSEMBL:ENSP00000305824.4", "ENSEMBL:ENSP00000385968", "ENSEMBL:ENSP00000385968.1", "UMLS:C1609354", "MESH:C489356"], "information_content": 95.4}
{"id": "UniProtKB:Q9NYY8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FAST kinase domain-containing protein 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYY8-1", "PR:Q9NYY8-1", "ENSEMBL:ENSP00000236980", "ENSEMBL:ENSP00000236980.6", "ENSEMBL:ENSP00000384929", "ENSEMBL:ENSP00000384929.3", "ENSEMBL:ENSP00000385990", "ENSEMBL:ENSP00000385990.3"], "information_content": 100.0}
{"id": "UniProtKB:Q6YHU6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA (32-2'-O)-methyltransferase regulator THADA isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6YHU6-1", "PR:Q6YHU6-1", "ENSEMBL:ENSP00000385995", "ENSEMBL:ENSP00000385995.4", "ENSEMBL:ENSP00000386088", "ENSEMBL:ENSP00000386088.2"], "information_content": 100.0}
{"id": "UniProtKB:P41223-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein BUD31 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P41223-1", "PR:P41223-1", "ENSEMBL:ENSP00000222969", "ENSEMBL:ENSP00000222969.5", "ENSEMBL:ENSP00000386023", "ENSEMBL:ENSP00000386023.2"], "information_content": 100.0}
{"id": "UniProtKB:P28476-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-aminobutyric acid receptor subunit rho-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P28476-1", "PR:P28476-1", "ENSEMBL:ENSP00000386029", "ENSEMBL:ENSP00000386029.4"], "information_content": 100.0}
{"id": "NCBIGene:4624", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYH6", "equivalent_identifiers": ["NCBIGene:4624", "ENSEMBL:ENSG00000197616", "HGNC:7576", "OMIM:160710", "UMLS:C1417541", "UniProtKB:P13533", "PR:P13533", "ENSEMBL:ENSP00000386041", "ENSEMBL:ENSP00000386041.3", "UMLS:C1437984", "MESH:C094239"], "information_content": 100.0}
{"id": "UniProtKB:Q14766-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "latent-transforming growth factor beta-binding protein 1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q14766-1", "PR:Q14766-1", "ENSEMBL:ENSP00000386043", "ENSEMBL:ENSP00000386043.2"], "information_content": 95.4}
{"id": "UniProtKB:Q9P267-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methyl-CpG-binding domain protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P267-1", "PR:Q9P267-1", "ENSEMBL:ENSP00000386049", "ENSEMBL:ENSP00000386049.1"], "information_content": 100.0}
{"id": "NCBIGene:152", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADRA2C", "equivalent_identifiers": ["NCBIGene:152", "ENSEMBL:ENSG00000184160", "HGNC:283", "OMIM:104250", "UMLS:C1412261", "UniProtKB:P18825", "PR:P18825", "ENSEMBL:ENSP00000386069", "ENSEMBL:ENSP00000386069.2", "UMLS:C2932445", "MESH:C547774", "UniProtKB:Q4W594"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUG5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-XVIIIb isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUG5-3", "PR:Q8IUG5-3", "ENSEMBL:ENSP00000386096", "ENSEMBL:ENSP00000386096.2"], "information_content": 100.0}
{"id": "UniProtKB:P16870-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carboxypeptidase E isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P16870-1", "PR:P16870-1", "ENSEMBL:ENSP00000386104", "ENSEMBL:ENSP00000386104.4"], "information_content": 100.0}
{"id": "UniProtKB:O43247-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ciliary microtubule inner protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43247-1", "PR:O43247-1", "ENSEMBL:ENSP00000371243", "ENSEMBL:ENSP00000371243.1", "ENSEMBL:ENSP00000386118", "ENSEMBL:ENSP00000386118.2"], "information_content": 100.0}
{"id": "NCBIGene:79798", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARMC5", "equivalent_identifiers": ["NCBIGene:79798", "ENSEMBL:ENSG00000140691", "HGNC:25781", "OMIM:615549", "UMLS:C1538935", "UniProtKB:B4DH27", "UMLS:C3851630", "MESH:C000590373", "UniProtKB:B4DIU9", "UniProtKB:J3KQ26", "ENSEMBL:ENSP00000386125", "ENSEMBL:ENSP00000386125.3", "UniProtKB:Q96C12", "PR:Q96C12"]}
{"id": "UniProtKB:Q5DID0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uromodulin-like 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5DID0-2", "PR:Q5DID0-2", "ENSEMBL:ENSP00000386126", "ENSEMBL:ENSP00000386126.2"], "information_content": 100.0}
{"id": "MONDO:0010987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 8", "equivalent_identifiers": ["MONDO:0010987", "DOID:0110527", "OMIM:601072", "UMLS:C1832827", "UMLS:C1854414", "MESH:C563395", "MESH:C565341", "medgen:322046"], "information_content": 100.0}
{"id": "NCBIGene:285877", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POM121L12", "equivalent_identifiers": ["NCBIGene:285877", "ENSEMBL:ENSG00000221900", "HGNC:25369", "UMLS:C2828539", "UniProtKB:Q8N7R1", "PR:Q8N7R1", "ENSEMBL:ENSP00000386133", "ENSEMBL:ENSP00000386133.3"], "information_content": 100.0}
{"id": "MONDO:0001390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient refractive change", "equivalent_identifiers": ["MONDO:0001390", "DOID:11850", "UMLS:C0155000", "MEDDRA:10044400", "SNOMEDCT:81519008", "medgen:509757", "icd11.foundation:416871389", "ICD9:367.81"], "information_content": 100.0}
{"id": "MONDO:0000309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aniseikonia", "equivalent_identifiers": ["MONDO:0000309", "DOID:0050304", "EFO:1001266", "UMLS:C0003078", "MESH:D000839", "MEDDRA:10002534", "SNOMEDCT:16059006", "medgen:1943", "icd11.foundation:1672014953"], "information_content": 100.0}
{"id": "MONDO:0013139", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neutropenia, severe congenital, 2, autosomal dominant", "equivalent_identifiers": ["MONDO:0013139", "DOID:0112131", "OMIM:613107", "UMLS:C2751288", "MESH:C567748", "NCIT:C176610", "medgen:413975"], "information_content": 100.0}
{"id": "MONDO:0013819", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 14", "equivalent_identifiers": ["MONDO:0013819", "DOID:0070044", "OMIM:614607", "UMLS:C3553247", "UMLS:C4749148", "medgen:766161"], "information_content": 100.0}
{"id": "MONDO:0009242", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brittle cornea syndrome", "equivalent_identifiers": ["MONDO:0009242", "DOID:14775", "OMIM.PS:229200", "orphanet:90354", "SNOMEDCT:719096006"], "information_content": 92.8}
{"id": "MONDO:0012988", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "equivalent_identifiers": ["MONDO:0012988", "DOID:0090086", "OMIM:612702", "UMLS:C2675188", "UMLS:C3552574", "MESH:C567199", "medgen:765488"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEJ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuroguidin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEJ9-1", "PR:Q8NEJ9-1", "ENSEMBL:ENSP00000386134", "ENSEMBL:ENSP00000386134.3"], "information_content": 100.0}
{"id": "UniProtKB:P53355-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "death-associated protein kinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P53355-1", "PR:P53355-1", "ENSEMBL:ENSP00000350785", "ENSEMBL:ENSP00000350785.5", "ENSEMBL:ENSP00000386135", "ENSEMBL:ENSP00000386135.3", "ENSEMBL:ENSP00000417076", "ENSEMBL:ENSP00000417076.1", "ENSEMBL:ENSP00000484267", "ENSEMBL:ENSP00000484267.1"], "information_content": 100.0}
{"id": "NCBIGene:389668", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XKR9", "equivalent_identifiers": ["NCBIGene:389668", "ENSEMBL:ENSG00000221947", "HGNC:20937", "UMLS:C1823876", "UniProtKB:Q5GH70", "PR:Q5GH70", "ENSEMBL:ENSP00000386141", "ENSEMBL:ENSP00000386141.3", "ENSEMBL:ENSP00000431088", "ENSEMBL:ENSP00000431088.1", "UMLS:C4547756", "MESH:C000622702"], "information_content": 95.4}
{"id": "NCBIGene:441150", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PEX39", "equivalent_identifiers": ["NCBIGene:441150", "ENSEMBL:ENSG00000221821", "HGNC:34431", "UMLS:C2681242", "UniProtKB:Q5I0X4", "PR:Q5I0X4", "ENSEMBL:ENSP00000386146", "ENSEMBL:ENSP00000386146.2"], "information_content": 100.0}
{"id": "MONDO:0011688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy type B5", "equivalent_identifiers": ["MONDO:0011688", "DOID:0110635", "OMIM:606612", "UMLS:C1847759", "MESH:C564691", "medgen:335764"], "information_content": 100.0}
{"id": "NCBIGene:401562", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LCNL1", "equivalent_identifiers": ["NCBIGene:401562", "ENSEMBL:ENSG00000214402", "HGNC:34436", "UMLS:C2681641", "UniProtKB:Q6ZST4", "PR:Q6ZST4", "ENSEMBL:ENSP00000386162", "ENSEMBL:ENSP00000386162.2"], "information_content": 100.0}
{"id": "NCBIGene:1052", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEBPD", "equivalent_identifiers": ["NCBIGene:1052", "ENSEMBL:ENSG00000221869", "HGNC:1835", "OMIM:116898", "UMLS:C1413324", "UniProtKB:P49716", "PR:P49716", "ENSEMBL:ENSP00000386165", "ENSEMBL:ENSP00000386165.3", "UMLS:C1506932", "MESH:C497252"], "information_content": 100.0}
{"id": "NCBIGene:57057", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBX20", "equivalent_identifiers": ["NCBIGene:57057", "ENSEMBL:ENSG00000164532", "HGNC:11598", "OMIM:606061", "UMLS:C1420609", "UniProtKB:Q9UMR3", "PR:Q9UMR3", "ENSEMBL:ENSP00000386170", "ENSEMBL:ENSP00000386170.3", "UMLS:C0964429", "MESH:C420984"], "information_content": 92.8}
{"id": "NCBIGene:150737", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFT70B", "equivalent_identifiers": ["NCBIGene:150737", "ENSEMBL:ENSG00000196659", "HGNC:26425", "OMIM:620742", "UMLS:C1823535", "UniProtKB:Q8N4P2", "PR:Q8N4P2", "ENSEMBL:ENSP00000386181", "ENSEMBL:ENSP00000386181.2"], "information_content": 100.0}
{"id": "NCBIGene:200765", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIGD1", "equivalent_identifiers": ["NCBIGene:200765", "ENSEMBL:ENSG00000221944", "HGNC:14523", "OMIM:612972", "UMLS:C1422724", "UniProtKB:Q96MW7", "PR:Q96MW7", "ENSEMBL:ENSP00000386186", "ENSEMBL:ENSP00000386186.3"], "information_content": 100.0}
{"id": "UniProtKB:O15409-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "forkhead box protein P2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O15409-4", "PR:O15409-4", "ENSEMBL:ENSP00000386200", "ENSEMBL:ENSP00000386200.3"], "information_content": 100.0}
{"id": "NCBIGene:259287", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R41", "equivalent_identifiers": ["NCBIGene:259287", "ENSEMBL:ENSG00000221855", "HGNC:18883", "OMIM:613965", "UMLS:C1425853", "UniProtKB:P59536", "PR:P59536", "ENSEMBL:ENSP00000386201", "ENSEMBL:ENSP00000386201.1", "ENSEMBL:ENSP00000494656", "ENSEMBL:ENSP00000494656.1", "UMLS:C3661372", "MESH:C000730096"], "information_content": 100.0}
{"id": "UniProtKB:A8MTL9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serpin-like protein HMSD (human)", "equivalent_identifiers": ["UniProtKB:A8MTL9-1", "PR:A8MTL9-1", "ENSEMBL:ENSP00000386207", "ENSEMBL:ENSP00000386207.3"], "information_content": 100.0}
{"id": "NCBIGene:259286", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R40", "equivalent_identifiers": ["NCBIGene:259286", "ENSEMBL:ENSG00000221937", "HGNC:18885", "OMIM:613964", "UMLS:C1425855", "UniProtKB:P59535", "PR:P59535", "ENSEMBL:ENSP00000386210", "ENSEMBL:ENSP00000386210.3"], "information_content": 92.8}
{"id": "NCBIGene:122706", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMB11", "equivalent_identifiers": ["NCBIGene:122706", "ENSEMBL:ENSG00000222028", "HGNC:31963", "OMIM:611137", "UMLS:C1970159", "UniProtKB:A5LHX3", "PR:A5LHX3", "ENSEMBL:ENSP00000386212", "ENSEMBL:ENSP00000386212.2", "UMLS:C1957581", "MESH:C520308", "UniProtKB:B3KVC3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXR4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin-IIIb isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXR4-1", "PR:Q8WXR4-1", "ENSEMBL:ENSP00000386213", "ENSEMBL:ENSP00000386213.4"], "information_content": 100.0}
{"id": "UniProtKB:P23508-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "colorectal mutant cancer protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P23508-2", "PR:P23508-2", "ENSEMBL:ENSP00000386227", "ENSEMBL:ENSP00000386227.3"], "information_content": 100.0}
{"id": "UniProtKB:O43566-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43566-7", "PR:O43566-7", "ENSEMBL:ENSP00000386229", "ENSEMBL:ENSP00000386229.3"], "information_content": 100.0}
{"id": "NCBIGene:55150", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C19orf73", "equivalent_identifiers": ["NCBIGene:55150", "ENSEMBL:ENSG00000221916", "HGNC:25534", "UMLS:C2681316", "UniProtKB:Q9NVV2", "PR:Q9NVV2", "ENSEMBL:ENSP00000386230", "ENSEMBL:ENSP00000386230.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96HA7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tonsoku-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HA7-1", "PR:Q96HA7-1", "ENSEMBL:ENSP00000386239", "ENSEMBL:ENSP00000386239.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96FG2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ELMO domain-containing protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FG2-1", "PR:Q96FG2-1", "ENSEMBL:ENSP00000377434", "ENSEMBL:ENSP00000377434.4", "ENSEMBL:ENSP00000386248", "ENSEMBL:ENSP00000386248.3", "ENSEMBL:ENSP00000386304", "ENSEMBL:ENSP00000386304.2", "ENSEMBL:ENSP00000387139", "ENSEMBL:ENSP00000387139.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96Q45-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 237 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q45-1", "PR:Q96Q45-1", "ENSEMBL:ENSP00000386264", "ENSEMBL:ENSP00000386264.2"], "information_content": 100.0}
{"id": "UniProtKB:Q08AI6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative sodium-coupled neutral amino acid transporter 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08AI6-1", "PR:Q08AI6-1", "ENSEMBL:ENSP00000386272", "ENSEMBL:ENSP00000386272.3", "ENSEMBL:ENSP00000386774", "ENSEMBL:ENSP00000386774.1"], "information_content": 100.0}
{"id": "NCBIGene:80830", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOL6", "equivalent_identifiers": ["NCBIGene:80830", "ENSEMBL:ENSG00000221963", "HGNC:14870", "OMIM:607256", "UMLS:C1423013", "UniProtKB:B3KTP4", "UniProtKB:Q9BWW8", "PR:Q9BWW8", "ENSEMBL:ENSP00000386280", "ENSEMBL:ENSP00000386280.3"], "information_content": 95.4}
{"id": "UniProtKB:P13716-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "delta-aminolevulinic acid dehydratase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P13716-1", "PR:P13716-1", "ENSEMBL:ENSP00000386284", "ENSEMBL:ENSP00000386284.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBP9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PTB domain-containing engulfment adapter protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBP9-1", "PR:Q9UBP9-1", "ENSEMBL:ENSP00000352047", "ENSEMBL:ENSP00000352047.3", "ENSEMBL:ENSP00000386289", "ENSEMBL:ENSP00000386289.1", "ENSEMBL:ENSP00000386732", "ENSEMBL:ENSP00000386732.1", "ENSEMBL:ENSP00000386867", "ENSEMBL:ENSP00000386867.1"], "information_content": 100.0}
{"id": "UniProtKB:A6NFY4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear envelope integral membrane protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NFY4-1", "PR:A6NFY4-1", "ENSEMBL:ENSP00000386292", "ENSEMBL:ENSP00000386292.3"], "information_content": 100.0}
{"id": "UniProtKB:Q15858-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium channel protein type 9 subunit alpha isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q15858-3", "PR:Q15858-3", "ENSEMBL:ENSP00000386306", "ENSEMBL:ENSP00000386306.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13402-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-VIIa isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13402-1", "PR:Q13402-1", "ENSEMBL:ENSP00000386331", "ENSEMBL:ENSP00000386331.3"], "information_content": 100.0}
{"id": "NCBIGene:89958", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAPCD2", "equivalent_identifiers": ["NCBIGene:89958", "ENSEMBL:ENSG00000186193", "HGNC:28055", "OMIM:612057", "UMLS:C1538362", "UniProtKB:Q86UD0", "PR:Q86UD0", "ENSEMBL:ENSP00000386348", "ENSEMBL:ENSP00000386348.3", "UMLS:C4276922", "MESH:C000607889"], "information_content": 92.8}
{"id": "NCBIGene:337970", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP19-3", "equivalent_identifiers": ["NCBIGene:337970", "ENSEMBL:ENSG00000244025", "HGNC:18938", "UMLS:C1425906", "UniProtKB:Q7Z4W3", "PR:Q7Z4W3", "ENSEMBL:ENSP00000386376", "ENSEMBL:ENSP00000386376.2"], "information_content": 100.0}
{"id": "NCBIGene:50489", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD207", "equivalent_identifiers": ["NCBIGene:50489", "ENSEMBL:ENSG00000116031", "HGNC:17935", "OMIM:604862", "UMLS:C1425189", "UniProtKB:Q9UJ71", "PR:Q9UJ71", "ENSEMBL:ENSP00000386378", "ENSEMBL:ENSP00000386378.3", "UMLS:C1432643", "MESH:C121916"], "information_content": 92.8}
{"id": "NCBIGene:3554", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL1R1", "equivalent_identifiers": ["NCBIGene:3554", "ENSEMBL:ENSG00000115594", "HGNC:5993", "OMIM:147810", "UMLS:C1416395", "UniProtKB:B8ZZW4", "ENSEMBL:ENSP00000386776", "ENSEMBL:ENSP00000386776.1", "UniProtKB:P14778", "PR:P14778", "ENSEMBL:ENSP00000386380", "ENSEMBL:ENSP00000386380.1", "UMLS:C1700970", "MESH:C508590"], "information_content": 90.9}
{"id": "UniProtKB:Q9Y6I8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal membrane protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6I8-1", "PR:Q9Y6I8-1", "ENSEMBL:ENSP00000386385", "ENSEMBL:ENSP00000386385.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H4I0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "double-strand-break repair protein rad21-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4I0-1", "PR:Q9H4I0-1", "ENSEMBL:ENSP00000386414", "ENSEMBL:ENSP00000386414.1"], "information_content": 100.0}
{"id": "NCBIGene:80097", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MZT2B", "equivalent_identifiers": ["NCBIGene:80097", "ENSEMBL:ENSG00000152082", "HGNC:25886", "OMIM:613450", "UMLS:C1825274", "UniProtKB:B8ZZ87", "ENSEMBL:ENSP00000386419", "ENSEMBL:ENSP00000386419.1", "ENSEMBL:ENSP00000517874", "ENSEMBL:ENSP00000517874.1", "UniProtKB:Q6NZ67", "PR:Q6NZ67", "ENSEMBL:ENSP00000281871", "ENSEMBL:ENSP00000281871.7", "ENSEMBL:ENSP00000517875", "ENSEMBL:ENSP00000517875.1"]}
{"id": "MONDO:0002918", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "clear cell meningioma", "equivalent_identifiers": ["MONDO:0002918", "DOID:4210", "EFO:1000180", "UMLS:C0431121", "NCIT:C4722", "SNOMEDCT:57606003", "medgen:98459"], "information_content": 92.8}
{"id": "UniProtKB:Q9H7C4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syncoilin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H7C4-1", "PR:Q9H7C4-1", "ENSEMBL:ENSP00000386439", "ENSEMBL:ENSP00000386439.3"], "information_content": 100.0}
{"id": "NCBIGene:10618", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGOLN2", "equivalent_identifiers": ["NCBIGene:10618", "ENSEMBL:ENSG00000152291", "HGNC:15450", "OMIM:603062", "UMLS:C1423496", "UniProtKB:A0A5F9UY30", "ENSEMBL:ENSP00000386443", "ENSEMBL:ENSP00000386443.3", "UniProtKB:O43493", "PR:O43493", "UMLS:C1308379", "MESH:C072237"]}
{"id": "NCBIGene:6295", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAG", "equivalent_identifiers": ["NCBIGene:6295", "ENSEMBL:ENSG00000130561", "HGNC:10521", "OMIM:181031", "UMLS:C1419805", "UniProtKB:P10523", "PR:P10523", "ENSEMBL:ENSP00000386444", "ENSEMBL:ENSP00000386444.1", "ENSEMBL:ENSP00000486571", "ENSEMBL:ENSP00000486571.1"], "information_content": 100.0}
{"id": "UniProtKB:A2RUB1-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "meiosis-specific coiled-coil domain-containing protein MEIOC isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2RUB1-4", "PR:A2RUB1-4", "ENSEMBL:ENSP00000386452", "ENSEMBL:ENSP00000386452.1"], "information_content": 100.0}
{"id": "UniProtKB:Q2M2I8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP2-associated protein kinase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2M2I8-1", "PR:Q2M2I8-1", "ENSEMBL:ENSP00000386456", "ENSEMBL:ENSP00000386456.3"], "information_content": 100.0}
{"id": "NCBIGene:55660", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRPF40A", "equivalent_identifiers": ["NCBIGene:55660", "ENSEMBL:ENSG00000196504", "HGNC:16463", "OMIM:612941", "UMLS:C1826709", "UniProtKB:A0A7N4I394", "ENSEMBL:ENSP00000386458", "ENSEMBL:ENSP00000386458.4", "UniProtKB:A0A8Q3SIG7", "ENSEMBL:ENSP00000512592", "ENSEMBL:ENSP00000512592.1", "UniProtKB:A0A8V8TM61", "ENSEMBL:ENSP00000513920", "ENSEMBL:ENSP00000513920.1", "UniProtKB:F5H578", "ENSEMBL:ENSP00000444656", "ENSEMBL:ENSP00000444656.4", "UniProtKB:O75400", "PR:O75400", "UMLS:C1527555", "MESH:C491404"]}
{"id": "NCBIGene:84334", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COA8", "equivalent_identifiers": ["NCBIGene:84334", "ENSEMBL:ENSG00000256053", "HGNC:20492", "OMIM:616003", "UMLS:C3471496", "UniProtKB:A0A6Q8JUI0", "ENSEMBL:ENSP00000386485", "ENSEMBL:ENSP00000386485.3", "UniProtKB:G3V4L6", "ENSEMBL:ENSP00000451874", "ENSEMBL:ENSP00000451874.2", "UniProtKB:Q96IL0", "PR:Q96IL0", "UMLS:C5197366", "MESH:C000632151"]}
{"id": "NCBIGene:3232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXD3", "equivalent_identifiers": ["NCBIGene:3232", "ENSEMBL:ENSG00000128652", "HGNC:5137", "OMIM:142980", "UMLS:C1415688", "UniProtKB:P31249", "PR:P31249", "ENSEMBL:ENSP00000249440", "ENSEMBL:ENSP00000249440.2", "ENSEMBL:ENSP00000386498", "ENSEMBL:ENSP00000386498.1", "ENSEMBL:ENSP00000507129", "ENSEMBL:ENSP00000507129.1", "UMLS:C3884449"], "information_content": 100.0}
{"id": "NCBIGene:146325", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRR35", "equivalent_identifiers": ["NCBIGene:146325", "ENSEMBL:ENSG00000161992", "HGNC:14139", "UMLS:C3813427", "UniProtKB:P0CG20", "PR:P0CG20", "ENSEMBL:ENSP00000386499", "ENSEMBL:ENSP00000386499.3"], "information_content": 100.0}
{"id": "NCBIGene:100310846", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD61", "equivalent_identifiers": ["NCBIGene:100310846", "ENSEMBL:ENSG00000157999", "HGNC:22467", "UMLS:C2678599", "UniProtKB:A6NGH8", "PR:A6NGH8", "ENSEMBL:ENSP00000386502", "ENSEMBL:ENSP00000386502.1"], "information_content": 100.0}
{"id": "MONDO:0000477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal dystonia", "equivalent_identifiers": ["MONDO:0000477", "DOID:0050836", "UMLS:C0743332", "MEDDRA:10088381", "SNOMEDCT:445006008", "medgen:149279", "HP:0004373"], "information_content": 81.7}
{"id": "NCBIGene:285025", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC141", "equivalent_identifiers": ["NCBIGene:285025", "ENSEMBL:ENSG00000163492", "HGNC:26821", "OMIM:616031", "UMLS:C2240346", "UniProtKB:B8ZZB3", "ENSEMBL:ENSP00000386503", "ENSEMBL:ENSP00000386503.1", "UMLS:C2974177", "MESH:C555242", "UniProtKB:Q6ZP82", "PR:Q6ZP82"]}
{"id": "NCBIGene:23132", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAD54L2", "equivalent_identifiers": ["NCBIGene:23132", "ENSEMBL:ENSG00000164080", "HGNC:29123", "OMIM:620006", "UMLS:C1826763", "UniProtKB:B3KV54", "UMLS:C2745086", "MESH:C546908", "UniProtKB:Q9Y4B4", "PR:Q9Y4B4", "ENSEMBL:ENSP00000386520", "ENSEMBL:ENSP00000386520.1", "ENSEMBL:ENSP00000507587", "ENSEMBL:ENSP00000507587.1"], "information_content": 95.4}
{"id": "MONDO:0007097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Finnish type amyloidosis", "equivalent_identifiers": ["MONDO:0007097", "DOID:0050637", "OMIM:105120", "orphanet:85448", "UMLS:C1622345", "MESH:C537459", "SNOMEDCT:419398009", "medgen:301243"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXE4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sphingomyelin phosphodiesterase 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXE4-1", "PR:Q9NXE4-1", "ENSEMBL:ENSP00000386531", "ENSEMBL:ENSP00000386531.1", "ENSEMBL:ENSP00000517885", "ENSEMBL:ENSP00000517885.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZVZ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and SOCS box protein 18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZVZ8-1", "PR:Q6ZVZ8-1", "ENSEMBL:ENSP00000386532", "ENSEMBL:ENSP00000386532.3"], "information_content": 100.0}
{"id": "MONDO:0017124", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "noma", "equivalent_identifiers": ["MONDO:0017124", "DOID:9672", "orphanet:2700", "EFO:1001063", "UMLS:C0028271", "MESH:D009625", "MEDDRA:10007131", "MEDDRA:10029502", "NCIT:C34852", "SNOMEDCT:18116006", "medgen:10366", "icd11.foundation:340823130", "ICD10:A69.0", "ICD9:528.1"], "information_content": 100.0}
{"id": "MONDO:0007078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pseudohypoparathyroidism type 1A", "equivalent_identifiers": ["MONDO:0007078", "DOID:0080053", "OMIM:103580", "orphanet:79443", "UMLS:C2931404", "UMLS:C3494506", "MESH:C537045", "NCIT:C118434", "NCIT:C129721", "SNOMEDCT:58833000", "medgen:488447", "icd11.foundation:1513156369"], "information_content": 92.8}
{"id": "UniProtKB:Q4KMP7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 10B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4KMP7-1", "PR:Q4KMP7-1", "ENSEMBL:ENSP00000386538", "ENSEMBL:ENSP00000386538.3"], "information_content": 100.0}
{"id": "NCBIGene:10213", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMD14", "equivalent_identifiers": ["NCBIGene:10213", "ENSEMBL:ENSG00000115233", "HGNC:16889", "OMIM:607173", "UMLS:C1424617", "UniProtKB:A0A140VKF2", "UMLS:C0668312", "MESH:C109285", "UniProtKB:O00487", "PR:O00487", "ENSEMBL:ENSP00000386541", "ENSEMBL:ENSP00000386541.3"], "information_content": 88.2}
{"id": "UniProtKB:Q4J6C6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prolyl endopeptidase-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4J6C6-1", "PR:Q4J6C6-1", "ENSEMBL:ENSP00000260648", "ENSEMBL:ENSP00000260648.6", "ENSEMBL:ENSP00000386509", "ENSEMBL:ENSP00000386509.1", "ENSEMBL:ENSP00000386543", "ENSEMBL:ENSP00000386543.1", "ENSEMBL:ENSP00000386909", "ENSEMBL:ENSP00000386909.1", "ENSEMBL:ENSP00000391456", "ENSEMBL:ENSP00000391456.1", "ENSEMBL:ENSP00000409480", "ENSEMBL:ENSP00000409480.1"], "information_content": 100.0}
{"id": "NCBIGene:55009", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM174C", "equivalent_identifiers": ["NCBIGene:55009", "ENSEMBL:ENSG00000310576", "HGNC:26073", "UMLS:C1428550", "UniProtKB:Q9BVV8", "PR:Q9BVV8", "ENSEMBL:ENSP00000386557", "ENSEMBL:ENSP00000386557.3", "UMLS:C2002211", "MESH:C522643"], "information_content": 100.0}
{"id": "UniProtKB:P01732-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell surface glycoprotein CD8 alpha chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P01732-1", "PR:P01732-1", "ENSEMBL:ENSP00000283635", "ENSEMBL:ENSP00000283635.3", "ENSEMBL:ENSP00000386559", "ENSEMBL:ENSP00000386559.2"], "information_content": 100.0}
{"id": "MONDO:0009434", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoproteinemia, hypercatabolic", "equivalent_identifiers": ["MONDO:0009434", "DOID:0111981", "OMIM:241600", "UMLS:C1855796", "MESH:C565476", "medgen:343422"], "information_content": 100.0}
{"id": "NCBIGene:729967", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MORN2", "equivalent_identifiers": ["NCBIGene:729967", "ENSEMBL:ENSG00000188010", "HGNC:30166", "UMLS:C1826270", "UniProtKB:A0A2R8YE86", "ENSEMBL:ENSP00000494143", "ENSEMBL:ENSP00000494143.2", "UniProtKB:Q502X0", "PR:Q502X0", "ENSEMBL:ENSP00000386563", "ENSEMBL:ENSP00000386563.1", "ENSEMBL:ENSP00000386874", "ENSEMBL:ENSP00000386874.1", "UMLS:C2935299", "MESH:C550770"], "information_content": 95.4}
{"id": "NCBIGene:653489", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RGPD3", "equivalent_identifiers": ["NCBIGene:653489", "ENSEMBL:ENSG00000153165", "HGNC:32416", "OMIM:612706", "UMLS:C1826814", "UniProtKB:A6NKT7", "PR:A6NKT7", "ENSEMBL:ENSP00000386588", "ENSEMBL:ENSP00000386588.4", "UMLS:C4552659"], "information_content": 88.2}
{"id": "MONDO:0004368", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sphenoorbital meningioma", "equivalent_identifiers": ["MONDO:0004368", "DOID:7819", "UMLS:C1336040", "NCIT:C5285", "medgen:233458"], "information_content": 100.0}
{"id": "UniProtKB:Q86U86-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein polybromo-1 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q86U86-2", "PR:Q86U86-2", "ENSEMBL:ENSP00000386593", "ENSEMBL:ENSP00000386593.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3H5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3H5-1", "PR:Q9H3H5-1", "ENSEMBL:ENSP00000346142", "ENSEMBL:ENSP00000346142.4", "ENSEMBL:ENSP00000386597", "ENSEMBL:ENSP00000386597.2"], "information_content": 100.0}
{"id": "NCBIGene:387804", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VSTM5", "equivalent_identifiers": ["NCBIGene:387804", "ENSEMBL:ENSG00000214376", "HGNC:34443", "OMIM:621118", "UMLS:C3470237", "UniProtKB:A8MXK1", "PR:A8MXK1", "ENSEMBL:ENSP00000386607", "ENSEMBL:ENSP00000386607.1"], "information_content": 100.0}
{"id": "UniProtKB:Q562E7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 81 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q562E7-1", "PR:Q562E7-1", "ENSEMBL:ENSP00000386609", "ENSEMBL:ENSP00000386609.1"], "information_content": 100.0}
{"id": "UniProtKB:A2A288-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable ribonuclease ZC3H12D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2A288-1", "PR:A2A288-1", "ENSEMBL:ENSP00000386616", "ENSEMBL:ENSP00000386616.3"], "information_content": 100.0}
{"id": "NCBIGene:6741", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSB", "equivalent_identifiers": ["NCBIGene:6741", "ENSEMBL:ENSG00000138385", "HGNC:11316", "OMIM:109090", "UMLS:C1420423", "UniProtKB:P05455", "PR:P05455", "ENSEMBL:ENSP00000260956", "ENSEMBL:ENSP00000260956.4", "ENSEMBL:ENSP00000386636", "ENSEMBL:ENSP00000386636.1", "UMLS:C4553537", "MESH:C506261"], "information_content": 92.8}
{"id": "UniProtKB:Q8NI22-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multiple coagulation factor deficiency protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NI22-1", "PR:Q8NI22-1", "ENSEMBL:ENSP00000317271", "ENSEMBL:ENSP00000317271.4", "ENSEMBL:ENSP00000386261", "ENSEMBL:ENSP00000386261.1", "ENSEMBL:ENSP00000386279", "ENSEMBL:ENSP00000386279.1", "ENSEMBL:ENSP00000386386", "ENSEMBL:ENSP00000386386.1", "ENSEMBL:ENSP00000386651", "ENSEMBL:ENSP00000386651.1", "ENSEMBL:ENSP00000402717", "ENSEMBL:ENSP00000402717.1"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000386653", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000386653", "equivalent_identifiers": ["ENSEMBL:ENSP00000386653"]}
{"id": "NCBIGene:100529097", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL36A-HNRNPH2", "equivalent_identifiers": ["NCBIGene:100529097", "ENSEMBL:ENSG00000257529", "HGNC:48349", "UMLS:C3816522", "UniProtKB:H0Y3V9", "ENSEMBL:ENSP00000386974", "ENSEMBL:ENSP00000386974.2", "UniProtKB:H7BZ11", "ENSEMBL:ENSP00000386655", "ENSEMBL:ENSP00000386655.4"]}
{"id": "NCBIGene:55818", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KDM3A", "equivalent_identifiers": ["NCBIGene:55818", "ENSEMBL:ENSG00000115548", "HGNC:20815", "OMIM:611512", "UMLS:C1427145", "UniProtKB:Q9Y4C1", "PR:Q9Y4C1", "ENSEMBL:ENSP00000323659", "ENSEMBL:ENSP00000323659.5", "ENSEMBL:ENSP00000386516", "ENSEMBL:ENSP00000386516.1", "ENSEMBL:ENSP00000386660", "ENSEMBL:ENSP00000386660.1", "UMLS:C2355222", "MESH:C530247"], "information_content": 90.9}
{"id": "NCBIGene:255275", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYADML2", "equivalent_identifiers": ["NCBIGene:255275", "ENSEMBL:ENSG00000185105", "HGNC:34548", "UMLS:C2681850", "UniProtKB:A6NDP7", "PR:A6NDP7", "ENSEMBL:ENSP00000386702", "ENSEMBL:ENSP00000386702.2", "UMLS:C3491250", "MESH:C571141"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z3C6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "autophagy-related protein 9A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3C6-1", "PR:Q7Z3C6-1", "ENSEMBL:ENSP00000355173", "ENSEMBL:ENSP00000355173.4", "ENSEMBL:ENSP00000379983", "ENSEMBL:ENSP00000379983.2", "ENSEMBL:ENSP00000386710", "ENSEMBL:ENSP00000386710.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96N16-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Janus kinase and microtubule-interacting protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96N16-2", "PR:Q96N16-2", "ENSEMBL:ENSP00000386711", "ENSEMBL:ENSP00000386711.3"], "information_content": 100.0}
{"id": "UniProtKB:P62899-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein eL31 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P62899-2", "PR:P62899-2", "ENSEMBL:ENSP00000386717", "ENSEMBL:ENSP00000386717.3"], "information_content": 100.0}
{"id": "UniProtKB:O94868-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-BAR and double SH3 domains protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O94868-1", "PR:O94868-1", "ENSEMBL:ENSP00000386722", "ENSEMBL:ENSP00000386722.4"], "information_content": 100.0}
{"id": "NCBIGene:56888", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCMF1", "equivalent_identifiers": ["NCBIGene:56888", "ENSEMBL:ENSG00000176407", "HGNC:20589", "OMIM:614719", "UMLS:C1427019", "UniProtKB:Q9P0J7", "PR:Q9P0J7", "ENSEMBL:ENSP00000386738", "ENSEMBL:ENSP00000386738.3", "UMLS:C1565587", "MESH:C496223"], "information_content": 92.8}
{"id": "UniProtKB:P15882-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-chimaerin isoform Alpha-2 (human)", "equivalent_identifiers": ["UniProtKB:P15882-1", "PR:P15882-1", "ENSEMBL:ENSP00000386741", "ENSEMBL:ENSP00000386741.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYW2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase SETD2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYW2-1", "PR:Q9BYW2-1", "ENSEMBL:ENSP00000386759", "ENSEMBL:ENSP00000386759.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULF5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc transporter ZIP10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULF5-1", "PR:Q9ULF5-1", "ENSEMBL:ENSP00000352655", "ENSEMBL:ENSP00000352655.5", "ENSEMBL:ENSP00000386766", "ENSEMBL:ENSP00000386766.3"], "information_content": 100.0}
{"id": "NCBIGene:728378", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POTEF", "equivalent_identifiers": ["NCBIGene:728378", "ENSEMBL:ENSG00000196604", "HGNC:33905", "UMLS:C2240228", "UniProtKB:A5A3E0", "PR:A5A3E0", "ENSEMBL:ENSP00000386786", "ENSEMBL:ENSP00000386786.2"], "information_content": 84.8}
{"id": "NCBIGene:389084", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNORC", "equivalent_identifiers": ["NCBIGene:389084", "ENSEMBL:ENSG00000182600", "HGNC:33763", "OMIM:620882", "UMLS:C2681207", "UniProtKB:A0A6M4NK13", "UniProtKB:Q6UX34", "PR:Q6UX34", "ENSEMBL:ENSP00000333208", "ENSEMBL:ENSP00000333208.2", "ENSEMBL:ENSP00000386804", "ENSEMBL:ENSP00000386804.1", "ENSEMBL:ENSP00000387130", "ENSEMBL:ENSP00000387130.1", "ENSEMBL:ENSP00000511992", "ENSEMBL:ENSP00000511992.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5BLP8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NELL2-interacting cell ontogeny regulator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5BLP8-1", "PR:Q5BLP8-1", "ENSEMBL:ENSP00000386528", "ENSEMBL:ENSP00000386528.1", "ENSEMBL:ENSP00000386807", "ENSEMBL:ENSP00000386807.5"], "information_content": 100.0}
{"id": "UniProtKB:Q9H992-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase MARCHF7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H992-1", "PR:Q9H992-1", "ENSEMBL:ENSP00000259050", "ENSEMBL:ENSP00000259050.3", "ENSEMBL:ENSP00000386830", "ENSEMBL:ENSP00000386830.1"], "information_content": 100.0}
{"id": "UniProtKB:P51826-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AF4/FMR2 family member 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51826-2", "PR:P51826-2", "ENSEMBL:ENSP00000386834", "ENSEMBL:ENSP00000386834.1"], "information_content": 100.0}
{"id": "UniProtKB:A4UGR9-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Xin actin-binding repeat-containing protein 2 isoform h8 (human)", "equivalent_identifiers": ["UniProtKB:A4UGR9-8", "PR:A4UGR9-8", "ENSEMBL:ENSP00000386840", "ENSEMBL:ENSP00000386840.2"], "information_content": 100.0}
{"id": "UniProtKB:P63267-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin, gamma-enteric smooth muscle isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P63267-1", "PR:P63267-1", "ENSEMBL:ENSP00000295137", "ENSEMBL:ENSP00000295137.3", "ENSEMBL:ENSP00000386857", "ENSEMBL:ENSP00000386857.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P0V3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH3 domain-binding protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0V3-1", "PR:Q9P0V3-1", "ENSEMBL:ENSP00000340237", "ENSEMBL:ENSP00000340237.4", "ENSEMBL:ENSP00000375867", "ENSEMBL:ENSP00000375867.2", "ENSEMBL:ENSP00000386862", "ENSEMBL:ENSP00000386862.1"], "information_content": 100.0}
{"id": "UniProtKB:O43151-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methylcytosine dioxygenase TET3 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O43151-1", "PR:O43151-1", "ENSEMBL:ENSP00000386869", "ENSEMBL:ENSP00000386869.3"], "information_content": 100.0}
{"id": "NCBIGene:149069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCDC2B", "equivalent_identifiers": ["NCBIGene:149069", "ENSEMBL:ENSG00000222046", "HGNC:32576", "UMLS:C1824890", "UniProtKB:A2VCK2", "PR:A2VCK2", "ENSEMBL:ENSP00000386870", "ENSEMBL:ENSP00000386870.1"], "information_content": 100.0}
{"id": "NCBIGene:64708", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COPS7B", "equivalent_identifiers": ["NCBIGene:64708", "ENSEMBL:ENSG00000144524", "HGNC:16760", "OMIM:616010", "UMLS:C1424524", "UniProtKB:A0A087X1P5", "ENSEMBL:ENSP00000484363", "ENSEMBL:ENSP00000484363.1", "UniProtKB:J3KQ34", "ENSEMBL:ENSP00000386438", "ENSEMBL:ENSP00000386438.1", "UniProtKB:J3KQ41", "ENSEMBL:ENSP00000386880", "ENSEMBL:ENSP00000386880.1", "UniProtKB:Q6ZTQ7", "UniProtKB:Q9H9Q2", "PR:Q9H9Q2"]}
{"id": "MONDO:0011275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acromesomelic dysplasia 1, Maroteaux type", "equivalent_identifiers": ["MONDO:0011275", "DOID:0080050", "OMIM:602875", "orphanet:40", "UMLS:C1864356", "MESH:C535661", "SNOMEDCT:718559000", "medgen:355199"], "information_content": 100.0}
{"id": "UniProtKB:O75923-13", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dysferlin isoform h13 (human)", "equivalent_identifiers": ["UniProtKB:O75923-13", "PR:O75923-13", "ENSEMBL:ENSP00000386881", "ENSEMBL:ENSP00000386881.3"], "information_content": 100.0}
{"id": "UniProtKB:P61073-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-X-C chemokine receptor type 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P61073-2", "PR:P61073-2", "ENSEMBL:ENSP00000386884", "ENSEMBL:ENSP00000386884.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14192-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "four and a half LIM domains protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14192-1", "PR:Q14192-1", "ENSEMBL:ENSP00000322909", "ENSEMBL:ENSP00000322909.8", "ENSEMBL:ENSP00000344266", "ENSEMBL:ENSP00000344266.5", "ENSEMBL:ENSP00000377020", "ENSEMBL:ENSP00000377020.3", "ENSEMBL:ENSP00000377021", "ENSEMBL:ENSP00000377021.3", "ENSEMBL:ENSP00000386633", "ENSEMBL:ENSP00000386633.1", "ENSEMBL:ENSP00000386665", "ENSEMBL:ENSP00000386665.1", "ENSEMBL:ENSP00000386892", "ENSEMBL:ENSP00000386892.3", "ENSEMBL:ENSP00000433567", "ENSEMBL:ENSP00000433567.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BWF3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWF3-1", "PR:Q9BWF3-1", "ENSEMBL:ENSP00000309166", "ENSEMBL:ENSP00000309166.8", "ENSEMBL:ENSP00000386561", "ENSEMBL:ENSP00000386561.2", "ENSEMBL:ENSP00000386894", "ENSEMBL:ENSP00000386894.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H5Z6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM124B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H5Z6-1", "PR:Q9H5Z6-1", "ENSEMBL:ENSP00000386895", "ENSEMBL:ENSP00000386895.3"], "information_content": 100.0}
{"id": "UniProtKB:P23229-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin alpha-6 isoform Alpha-6X1B (human)", "equivalent_identifiers": ["UniProtKB:P23229-3", "PR:P23229-3", "ENSEMBL:ENSP00000386896", "ENSEMBL:ENSP00000386896.1"], "information_content": 100.0}
{"id": "NCBIGene:100885848", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTGES3L", "equivalent_identifiers": ["NCBIGene:100885848", "ENSEMBL:ENSG00000267060", "HGNC:43943", "UMLS:C3540256", "UniProtKB:A0A7N4I3A5", "ENSEMBL:ENSP00000386902", "ENSEMBL:ENSP00000386902.4", "UniProtKB:E9PB15", "PR:E9PB15", "UniProtKB:H7C1Q7", "ENSEMBL:ENSP00000467778", "ENSEMBL:ENSP00000467778.2"]}
{"id": "UniProtKB:A6BM72-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multiple epidermal growth factor-like domains protein 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6BM72-1", "PR:A6BM72-1", "ENSEMBL:ENSP00000386908", "ENSEMBL:ENSP00000386908.2", "ENSEMBL:ENSP00000414475", "ENSEMBL:ENSP00000414475.1"], "information_content": 100.0}
{"id": "UniProtKB:O43731-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ER lumen protein-retaining receptor 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O43731-2", "PR:O43731-2", "ENSEMBL:ENSP00000386918", "ENSEMBL:ENSP00000386918.3"], "information_content": 100.0}
{"id": "UniProtKB:Q3KQV9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q3KQV9-1", "PR:Q3KQV9-1", "ENSEMBL:ENSP00000386935", "ENSEMBL:ENSP00000386935.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96JF0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-galactoside alpha-2,6-sialyltransferase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JF0-1", "PR:Q96JF0-1", "ENSEMBL:ENSP00000355273", "ENSEMBL:ENSP00000355273.4", "ENSEMBL:ENSP00000386942", "ENSEMBL:ENSP00000386942.3"], "information_content": 100.0}
{"id": "NCBIGene:57828", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CATSPERG", "equivalent_identifiers": ["NCBIGene:57828", "ENSEMBL:ENSG00000099338", "HGNC:25243", "OMIM:613452", "UMLS:C1428460", "UniProtKB:B8ZZI7", "ENSEMBL:ENSP00000387057", "ENSEMBL:ENSP00000387057.1", "UniProtKB:Q32MQ2", "UniProtKB:Q6ZRH7", "PR:Q6ZRH7", "ENSEMBL:ENSP00000386962", "ENSEMBL:ENSP00000386962.3"], "information_content": 95.4}
{"id": "UniProtKB:Q6DHV5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein CC2D2B isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6DHV5-2", "PR:Q6DHV5-2", "ENSEMBL:ENSP00000386988", "ENSEMBL:ENSP00000386988.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UI26-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "importin-11 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UI26-2", "PR:Q9UI26-2", "ENSEMBL:ENSP00000386992", "ENSEMBL:ENSP00000386992.3"], "information_content": 100.0}
{"id": "NCBIGene:57703", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CWC22", "equivalent_identifiers": ["NCBIGene:57703", "ENSEMBL:ENSG00000163510", "HGNC:29322", "OMIM:615186", "UMLS:C2681389", "UniProtKB:Q9HCG8", "PR:Q9HCG8", "ENSEMBL:ENSP00000387006", "ENSEMBL:ENSP00000387006.3", "UMLS:C3660648", "MESH:C578086"], "information_content": 100.0}
{"id": "MONDO:0001583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "diabetic polyneuropathy", "equivalent_identifiers": ["MONDO:0001583", "DOID:12785", "UMLS:C0271680", "MEDDRA:10012685", "MEDDRA:10036113", "SNOMEDCT:49455004", "medgen:75763", "icd11.foundation:1837670870", "ICD9:357.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86XI2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "condensin-2 complex subunit G2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86XI2-2", "PR:Q86XI2-2", "ENSEMBL:ENSP00000387007", "ENSEMBL:ENSP00000387007.3"], "information_content": 100.0}
{"id": "UniProtKB:A8MVX0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 33 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:A8MVX0-2", "PR:A8MVX0-2", "ENSEMBL:ENSP00000381780", "ENSEMBL:ENSP00000381780.4", "ENSEMBL:ENSP00000387020", "ENSEMBL:ENSP00000387020.1"], "information_content": 100.0}
{"id": "NCBIGene:100190949", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C5orf52", "equivalent_identifiers": ["NCBIGene:100190949", "ENSEMBL:ENSG00000187658", "HGNC:35121", "UMLS:C2681237", "UniProtKB:A6NGY3", "PR:A6NGY3", "ENSEMBL:ENSP00000387027", "ENSEMBL:ENSP00000387027.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96MI6-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1M isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96MI6-4", "PR:Q96MI6-4", "ENSEMBL:ENSP00000387046", "ENSEMBL:ENSP00000387046.3"], "information_content": 100.0}
{"id": "NCBIGene:23646", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLD3", "equivalent_identifiers": ["NCBIGene:23646", "ENSEMBL:ENSG00000105223", "HGNC:17158", "OMIM:615698", "UMLS:C1424784", "UniProtKB:Q8IV08", "PR:Q8IV08", "ENSEMBL:ENSP00000348901", "ENSEMBL:ENSP00000348901.5", "ENSEMBL:ENSP00000386293", "ENSEMBL:ENSP00000386293.1", "ENSEMBL:ENSP00000386938", "ENSEMBL:ENSP00000386938.3", "ENSEMBL:ENSP00000387022", "ENSEMBL:ENSP00000387022.1", "ENSEMBL:ENSP00000387050", "ENSEMBL:ENSP00000387050.1", "ENSEMBL:ENSP00000515107", "ENSEMBL:ENSP00000515107.1", "ENSEMBL:ENSP00000515110", "ENSEMBL:ENSP00000515110.1", "ENSEMBL:ENSP00000515111", "ENSEMBL:ENSP00000515111.1", "ENSEMBL:ENSP00000515112", "ENSEMBL:ENSP00000515112.1", "ENSEMBL:ENSP00000515113", "ENSEMBL:ENSP00000515113.1", "ENSEMBL:ENSP00000515115", "ENSEMBL:ENSP00000515115.1", "ENSEMBL:ENSP00000515116", "ENSEMBL:ENSP00000515116.1", "ENSEMBL:ENSP00000515117", "ENSEMBL:ENSP00000515117.1", "ENSEMBL:ENSP00000515118", "ENSEMBL:ENSP00000515118.1", "ENSEMBL:ENSP00000515119", "ENSEMBL:ENSP00000515119.1", "ENSEMBL:ENSP00000515120", "ENSEMBL:ENSP00000515120.1", "ENSEMBL:ENSP00000515121", "ENSEMBL:ENSP00000515121.1", "ENSEMBL:ENSP00000515122", "ENSEMBL:ENSP00000515122.1", "ENSEMBL:ENSP00000515123", "ENSEMBL:ENSP00000515123.1", "UMLS:C3711315", "MESH:C586092"], "information_content": 90.9}
{"id": "UniProtKB:Q86V40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metalloprotease TIKI1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86V40-1", "PR:Q86V40-1", "ENSEMBL:ENSP00000387075", "ENSEMBL:ENSP00000387075.2"], "information_content": 100.0}
{"id": "MONDO:0017838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sclerosteosis", "equivalent_identifiers": ["MONDO:0017838", "DOID:0060251", "OMIM.PS:269500", "orphanet:3152", "UMLS:C0265301", "MESH:C537525", "NCIT:C131133", "SNOMEDCT:17568006", "medgen:120530", "icd11.foundation:371637416"], "information_content": 92.8}
{"id": "UniProtKB:Q8NI32-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ly6/PLAUR domain-containing protein 6B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8NI32-2", "PR:Q8NI32-2", "ENSEMBL:ENSP00000387077", "ENSEMBL:ENSP00000387077.3"], "information_content": 100.0}
{"id": "UniProtKB:Q4KMQ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "taperin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4KMQ1-1", "PR:Q4KMQ1-1", "ENSEMBL:ENSP00000387100", "ENSEMBL:ENSP00000387100.4"], "information_content": 100.0}
{"id": "MONDO:0011099", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "human HOXA1 syndromes", "equivalent_identifiers": ["MONDO:0011099", "DOID:0050682", "OMIM:601536", "orphanet:69739", "UMLS:C1832215", "MESH:C535397", "SNOMEDCT:720518006", "medgen:330410"], "information_content": 95.4}
{"id": "UniProtKB:Q2KHT3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein CLEC16A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2KHT3-1", "PR:Q2KHT3-1", "ENSEMBL:ENSP00000387122", "ENSEMBL:ENSP00000387122.1"], "information_content": 100.0}
{"id": "UniProtKB:P49419-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-aminoadipic semialdehyde dehydrogenase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49419-1", "PR:P49419-1", "ENSEMBL:ENSP00000387123", "ENSEMBL:ENSP00000387123.3"], "information_content": 100.0}
{"id": "MONDO:0002353", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glottis neoplasm", "equivalent_identifiers": ["MONDO:0002353", "DOID:2597", "UMLS:C0345713", "NCIT:C4425", "SNOMEDCT:126693009", "medgen:138026"], "information_content": 87.2}
{"id": "UniProtKB:O14513-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Nck-associated protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14513-1", "PR:O14513-1", "ENSEMBL:ENSP00000387128", "ENSEMBL:ENSP00000387128.1"], "information_content": 100.0}
{"id": "NCBIGene:25972", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UNC50", "equivalent_identifiers": ["NCBIGene:25972", "ENSEMBL:ENSG00000115446", "HGNC:16046", "OMIM:617826", "UMLS:C1423936", "UniProtKB:A0A0S2Z612", "UMLS:C4079549", "MESH:C000604212", "UniProtKB:J3KQ47", "ENSEMBL:ENSP00000386466", "ENSEMBL:ENSP00000386466.1", "ENSEMBL:ENSP00000387146", "ENSEMBL:ENSP00000387146.1", "UniProtKB:Q53HI1", "PR:Q53HI1", "ENSEMBL:ENSP00000350409", "ENSEMBL:ENSP00000350409.2"]}
{"id": "NCBIGene:4880", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPPC", "equivalent_identifiers": ["NCBIGene:4880", "ENSEMBL:ENSG00000163273", "HGNC:7941", "OMIM:600296", "UMLS:C1417809", "UniProtKB:E5LCN7", "UMLS:C5391639", "MESH:C000706751", "UniProtKB:P23582", "PR:P23582", "ENSEMBL:ENSP00000295440", "ENSEMBL:ENSP00000295440.2", "ENSEMBL:ENSP00000387159", "ENSEMBL:ENSP00000387159.1"], "information_content": 95.4}
{"id": "NCBIGene:54504", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPVL", "equivalent_identifiers": ["NCBIGene:54504", "ENSEMBL:ENSG00000106066", "HGNC:14399", "OMIM:609780", "UMLS:C1422620", "UniProtKB:Q9H3G5", "PR:Q9H3G5", "ENSEMBL:ENSP00000265394", "ENSEMBL:ENSP00000265394.5", "ENSEMBL:ENSP00000379572", "ENSEMBL:ENSP00000379572.3", "ENSEMBL:ENSP00000387164", "ENSEMBL:ENSP00000387164.1", "UMLS:C1701357", "MESH:C508747"], "information_content": 95.4}
{"id": "UniProtKB:Q6Y7W6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GRB10-interacting GYF protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6Y7W6-3", "PR:Q6Y7W6-3", "ENSEMBL:ENSP00000387170", "ENSEMBL:ENSP00000387170.3"], "information_content": 100.0}
{"id": "NCBIGene:653781", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POTEJ", "equivalent_identifiers": ["NCBIGene:653781", "ENSEMBL:ENSG00000222038", "HGNC:37094", "UMLS:C2828541", "UniProtKB:P0CG39", "PR:P0CG39", "ENSEMBL:ENSP00000387176", "ENSEMBL:ENSP00000387176.1"], "information_content": 100.0}
{"id": "MONDO:0011390", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis 2", "equivalent_identifiers": ["MONDO:0011390", "DOID:0111129", "OMIM:603965", "UMLS:C1858915", "MESH:C565831", "medgen:349053"], "information_content": 100.0}
{"id": "NCBIGene:51651", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTRH2", "equivalent_identifiers": ["NCBIGene:51651", "ENSEMBL:ENSG00000141378", "HGNC:24265", "OMIM:608625", "UMLS:C1826738", "UniProtKB:J3KQ48", "ENSEMBL:ENSP00000387180", "ENSEMBL:ENSP00000387180.2", "UMLS:C1436930", "MESH:C483418", "UniProtKB:Q9Y3E5", "PR:Q9Y3E5", "ENSEMBL:ENSP00000376758", "ENSEMBL:ENSP00000376758.2", "ENSEMBL:ENSP00000464327", "ENSEMBL:ENSP00000464327.1"]}
{"id": "UniProtKB:Q32M88-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-glucosylgalactosylhydroxylysine glucosidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q32M88-1", "PR:Q32M88-1", "ENSEMBL:ENSP00000387185", "ENSEMBL:ENSP00000387185.2"], "information_content": 100.0}
{"id": "UniProtKB:P84101-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small EDRK-rich factor 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P84101-2", "PR:P84101-2", "ENSEMBL:ENSP00000387187", "ENSEMBL:ENSP00000387187.2"], "information_content": 100.0}
{"id": "NCBIGene:84984", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEP19", "equivalent_identifiers": ["NCBIGene:84984", "ENSEMBL:ENSG00000174007", "HGNC:28209", "OMIM:615586", "UMLS:C1824130", "UniProtKB:A8MX07", "ENSEMBL:ENSP00000382823", "ENSEMBL:ENSP00000382823.4", "UniProtKB:Q96LK0", "PR:Q96LK0", "ENSEMBL:ENSP00000387209", "ENSEMBL:ENSP00000387209.4", "UMLS:C3849582", "MESH:C586299"], "information_content": 100.0}
{"id": "NCBIGene:8809", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL18R1", "equivalent_identifiers": ["NCBIGene:8809", "ENSEMBL:ENSG00000115604", "HGNC:5988", "OMIM:604494", "UMLS:C1416393", "UniProtKB:B7ZKV7", "UniProtKB:Q13478", "PR:Q13478", "ENSEMBL:ENSP00000233957", "ENSEMBL:ENSP00000233957.1", "ENSEMBL:ENSP00000386663", "ENSEMBL:ENSP00000386663.1", "ENSEMBL:ENSP00000387211", "ENSEMBL:ENSP00000387211.1", "UMLS:C1447429", "UMLS:C4085191", "MESH:C508572"], "information_content": 92.8}
{"id": "UniProtKB:Q9UMS0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMS0-1", "PR:Q9UMS0-1", "ENSEMBL:ENSP00000387219", "ENSEMBL:ENSP00000387219.3"], "information_content": 100.0}
{"id": "NCBIGene:80059", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRTM4", "equivalent_identifiers": ["NCBIGene:80059", "ENSEMBL:ENSG00000176204", "HGNC:19411", "OMIM:610870", "UMLS:C1537619", "UniProtKB:B3KV11", "UMLS:C4742411", "MESH:C000628830", "UniProtKB:B8ZZ84", "ENSEMBL:ENSP00000387228", "ENSEMBL:ENSP00000387228.1", "UniProtKB:Q4KMX1", "ENSEMBL:ENSP00000386286", "ENSEMBL:ENSP00000386286.1", "UniProtKB:Q6ZT31", "UniProtKB:Q86VH4", "PR:Q86VH4"]}
{"id": "UniProtKB:Q9UBK7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab-like protein 2A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBK7-3", "PR:Q9UBK7-3", "ENSEMBL:ENSP00000387229", "ENSEMBL:ENSP00000387229.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUC8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypeptide N-acetylgalactosaminyltransferase 13 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUC8-3", "PR:Q8IUC8-3", "ENSEMBL:ENSP00000387239", "ENSEMBL:ENSP00000387239.1"], "information_content": 100.0}
{"id": "NCBIGene:10746", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAP3K2", "equivalent_identifiers": ["NCBIGene:10746", "ENSEMBL:ENSG00000169967", "HGNC:6854", "OMIM:609487", "UMLS:C1417013", "UniProtKB:Q9Y2U5", "PR:Q9Y2U5", "ENSEMBL:ENSP00000343463", "ENSEMBL:ENSP00000343463.5", "ENSEMBL:ENSP00000387246", "ENSEMBL:ENSP00000387246.1", "ENSEMBL:ENSP00000507315", "ENSEMBL:ENSP00000507315.1", "UMLS:C1435743", "MESH:C482618"], "information_content": 100.0}
{"id": "NCBIGene:64881", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCDH20", "equivalent_identifiers": ["NCBIGene:64881", "ENSEMBL:ENSG00000280165", "HGNC:14257", "OMIM:614449", "UMLS:C1422518", "UniProtKB:B3KSZ7", "UMLS:C4077402", "MESH:C000601912", "UniProtKB:Q8N6Y1", "PR:Q8N6Y1", "ENSEMBL:ENSP00000387250", "ENSEMBL:ENSP00000387250.3"], "information_content": 92.8}
{"id": "UniProtKB:Q9H939-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-serine-threonine phosphatase-interacting protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H939-1", "PR:Q9H939-1", "ENSEMBL:ENSP00000387261", "ENSEMBL:ENSP00000387261.4"], "information_content": 100.0}
{"id": "UniProtKB:Q16891-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MICOS complex subunit MIC60 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16891-1", "PR:Q16891-1", "ENSEMBL:ENSP00000387262", "ENSEMBL:ENSP00000387262.3"], "information_content": 100.0}
{"id": "UniProtKB:Q08AE8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein spire homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08AE8-1", "PR:Q08AE8-1", "ENSEMBL:ENSP00000387266", "ENSEMBL:ENSP00000387266.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96JB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAGUK p55 subfamily member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JB8-1", "PR:Q96JB8-1", "ENSEMBL:ENSP00000387278", "ENSEMBL:ENSP00000387278.3"], "information_content": 100.0}
{"id": "MONDO:0008780", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyotrophic lateral sclerosis type 2, juvenile", "equivalent_identifiers": ["MONDO:0008780", "DOID:0060194", "OMIM:205100", "UMLS:C1859807", "MESH:C565957", "SNOMEDCT:1201947005", "medgen:349246"], "information_content": 100.0}
{"id": "UniProtKB:P52594-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Arf-GAP domain and FG repeat-containing protein 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P52594-4", "PR:P52594-4", "ENSEMBL:ENSP00000387282", "ENSEMBL:ENSP00000387282.2"], "information_content": 100.0}
{"id": "UniProtKB:P62820-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-1A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62820-1", "PR:P62820-1", "ENSEMBL:ENSP00000387286", "ENSEMBL:ENSP00000387286.3", "ENSEMBL:ENSP00000497078", "ENSEMBL:ENSP00000497078.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86TG1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 150A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86TG1-1", "PR:Q86TG1-1", "ENSEMBL:ENSP00000334708", "ENSEMBL:ENSP00000334708.5", "ENSEMBL:ENSP00000387292", "ENSEMBL:ENSP00000387292.1"], "information_content": 100.0}
{"id": "NCBIGene:285141", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERICH2", "equivalent_identifiers": ["NCBIGene:285141", "ENSEMBL:ENSG00000204334", "HGNC:44395", "OMIM:620858", "UMLS:C3541116", "UniProtKB:A0A8V8TMA0", "ENSEMBL:ENSP00000513252", "ENSEMBL:ENSP00000513252.1", "UniProtKB:A0A8V8TMB5", "ENSEMBL:ENSP00000513268", "ENSEMBL:ENSP00000513268.1", "UniProtKB:A1L162", "PR:A1L162", "ENSEMBL:ENSP00000387298", "ENSEMBL:ENSP00000387298.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDG6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent RNA helicase TDRD9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDG6-1", "PR:Q8NDG6-1", "ENSEMBL:ENSP00000387303", "ENSEMBL:ENSP00000387303.4"], "information_content": 100.0}
{"id": "NCBIGene:84084", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB6C", "equivalent_identifiers": ["NCBIGene:84084", "ENSEMBL:ENSG00000222014", "HGNC:16525", "OMIM:612909", "UMLS:C1424353", "UniProtKB:Q9H0N0", "PR:Q9H0N0", "ENSEMBL:ENSP00000387307", "ENSEMBL:ENSP00000387307.2", "ENSEMBL:ENSP00000517898", "ENSEMBL:ENSP00000517898.1", "UMLS:C0962704", "MESH:C417211"], "information_content": 100.0}
{"id": "NCBIGene:147111", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOTUM", "equivalent_identifiers": ["NCBIGene:147111", "ENSEMBL:ENSG00000185269", "HGNC:27106", "OMIM:609847", "UMLS:C1835953", "UniProtKB:Q6P988", "PR:Q6P988", "ENSEMBL:ENSP00000387310", "ENSEMBL:ENSP00000387310.3"], "information_content": 90.9}
{"id": "UniProtKB:Q86UT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NLR family member X1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UT6-1", "PR:Q86UT6-1", "ENSEMBL:ENSP00000292199", "ENSEMBL:ENSP00000292199.2", "ENSEMBL:ENSP00000386851", "ENSEMBL:ENSP00000386851.1", "ENSEMBL:ENSP00000387334", "ENSEMBL:ENSP00000387334.1", "ENSEMBL:ENSP00000516519", "ENSEMBL:ENSP00000516519.1"], "information_content": 100.0}
{"id": "UniProtKB:P16112-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aggrecan core protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P16112-1", "PR:P16112-1", "ENSEMBL:ENSP00000387356", "ENSEMBL:ENSP00000387356.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14139-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin conjugation factor E4 A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q14139-2", "PR:Q14139-2", "ENSEMBL:ENSP00000387362", "ENSEMBL:ENSP00000387362.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z3B3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KAT8 regulatory NSL complex subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3B3-1", "PR:Q7Z3B3-1", "ENSEMBL:ENSP00000262419", "ENSEMBL:ENSP00000262419.6", "ENSEMBL:ENSP00000387393", "ENSEMBL:ENSP00000387393.3", "ENSEMBL:ENSP00000461484", "ENSEMBL:ENSP00000461484.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5T4W7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "artemin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5T4W7-3", "PR:Q5T4W7-3", "ENSEMBL:ENSP00000387435", "ENSEMBL:ENSP00000387435.3", "ENSEMBL:ENSP00000436727", "ENSEMBL:ENSP00000436727.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96DT7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and BTB domain-containing protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DT7-1", "PR:Q96DT7-1", "ENSEMBL:ENSP00000387462", "ENSEMBL:ENSP00000387462.1", "ENSEMBL:ENSP00000412036", "ENSEMBL:ENSP00000412036.3"], "information_content": 100.0}
{"id": "NCBIGene:51647", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIAO2B", "equivalent_identifiers": ["NCBIGene:51647", "ENSEMBL:ENSG00000166595", "HGNC:24261", "OMIM:614778", "UMLS:C1825216", "UniProtKB:Q9Y3D0", "PR:Q9Y3D0", "ENSEMBL:ENSP00000387471", "ENSEMBL:ENSP00000387471.2", "UMLS:C3253207", "MESH:C569498"], "information_content": 92.8}
{"id": "MONDO:0013750", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 8", "equivalent_identifiers": ["MONDO:0013750", "DOID:0110113", "OMIM:614433", "UMLS:C3280790", "medgen:482420"], "information_content": 100.0}
{"id": "NCBIGene:2524", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FUT2", "equivalent_identifiers": ["NCBIGene:2524", "ENSEMBL:ENSG00000176920", "HGNC:4013", "OMIM:182100", "UMLS:C1414863", "UniProtKB:A8K2L2", "UMLS:C0377712", "MESH:C000727873", "UniProtKB:Q10981", "PR:Q10981", "ENSEMBL:ENSP00000387498", "ENSEMBL:ENSP00000387498.2", "ENSEMBL:ENSP00000430227", "ENSEMBL:ENSP00000430227.2"], "information_content": 100.0}
{"id": "UniProtKB:P54219-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromaffin granule amine transporter isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P54219-1", "PR:P54219-1", "ENSEMBL:ENSP00000276373", "ENSEMBL:ENSP00000276373.5", "ENSEMBL:ENSP00000387549", "ENSEMBL:ENSP00000387549.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCD6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein TANC2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCD6-1", "PR:Q9HCD6-1", "ENSEMBL:ENSP00000387593", "ENSEMBL:ENSP00000387593.2"], "information_content": 100.0}
{"id": "UniProtKB:O75155-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cullin-associated NEDD8-dissociated protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75155-1", "PR:O75155-1", "ENSEMBL:ENSP00000387641", "ENSEMBL:ENSP00000387641.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHG3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prenylcysteine oxidase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHG3-1", "PR:Q9UHG3-1", "ENSEMBL:ENSP00000387654", "ENSEMBL:ENSP00000387654.2"], "information_content": 100.0}
{"id": "NCBIGene:2641", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GCG", "equivalent_identifiers": ["NCBIGene:2641", "ENSEMBL:ENSG00000115263", "HGNC:4191", "OMIM:138030", "UMLS:C1333664", "UniProtKB:P01275", "PR:P01275", "ENSEMBL:ENSP00000364647", "ENSEMBL:ENSP00000364647.3", "ENSEMBL:ENSP00000387662", "ENSEMBL:ENSP00000387662.2", "UMLS:C0772088", "UMLS:C4520795", "UMLS:C5781083", "UMLS:C5781577"], "information_content": 92.8}
{"id": "NCBIGene:10720", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UGT2B11", "equivalent_identifiers": ["NCBIGene:10720", "ENSEMBL:ENSG00000213759", "HGNC:12545", "OMIM:603064", "UMLS:C1421337", "UniProtKB:O75310", "PR:O75310", "ENSEMBL:ENSP00000387683", "ENSEMBL:ENSP00000387683.1", "UMLS:C1431414", "MESH:C113480"], "information_content": 95.4}
{"id": "UniProtKB:Q9H2X9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 12 member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2X9-1", "PR:Q9H2X9-1", "ENSEMBL:ENSP00000387694", "ENSEMBL:ENSP00000387694.1"], "information_content": 100.0}
{"id": "UniProtKB:P16220-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic AMP-responsive element-binding protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P16220-1", "PR:P16220-1", "ENSEMBL:ENSP00000387699", "ENSEMBL:ENSP00000387699.2"], "information_content": 92.8}
{"id": "UniProtKB:P26639-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "threonine--tRNA ligase 1, cytoplasmic isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P26639-2", "PR:P26639-2", "ENSEMBL:ENSP00000387710", "ENSEMBL:ENSP00000387710.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IY63-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "angiomotin-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY63-1", "PR:Q8IY63-1", "ENSEMBL:ENSP00000387739", "ENSEMBL:ENSP00000387739.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96JB3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hypermethylated in cancer 2 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JB3-1", "PR:Q96JB3-1", "ENSEMBL:ENSP00000384889", "ENSEMBL:ENSP00000384889.2", "ENSEMBL:ENSP00000385319", "ENSEMBL:ENSP00000385319.2", "ENSEMBL:ENSP00000387757", "ENSEMBL:ENSP00000387757.2"], "information_content": 100.0}
{"id": "UniProtKB:Q58F21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain testis-specific protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q58F21-1", "PR:Q58F21-1", "ENSEMBL:ENSP00000354568", "ENSEMBL:ENSP00000354568.3", "ENSEMBL:ENSP00000384051", "ENSEMBL:ENSP00000384051.1", "ENSEMBL:ENSP00000387822", "ENSEMBL:ENSP00000387822.3"], "information_content": 100.0}
{"id": "NCBIGene:285643", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIF4B", "equivalent_identifiers": ["NCBIGene:285643", "ENSEMBL:ENSG00000226650", "HGNC:6322", "OMIM:609184", "UMLS:C1416637", "UniProtKB:B4DYE2", "UMLS:C1438971", "MESH:C484229", "UniProtKB:Q2VIQ3", "PR:Q2VIQ3", "ENSEMBL:ENSP00000387875", "ENSEMBL:ENSP00000387875.3"], "information_content": 100.0}
{"id": "MONDO:0014505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 27", "equivalent_identifiers": ["MONDO:0014505", "DOID:0080444", "OMIM:616139", "UMLS:C4015316", "medgen:863753"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9U0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tandem C2 domains nuclear protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9U0-1", "PR:Q8N9U0-1", "ENSEMBL:ENSP00000343199", "ENSEMBL:ENSP00000343199.5", "ENSEMBL:ENSP00000353802", "ENSEMBL:ENSP00000353802.5", "ENSEMBL:ENSP00000387882", "ENSEMBL:ENSP00000387882.2", "ENSEMBL:ENSP00000478127", "ENSEMBL:ENSP00000478127.2", "ENSEMBL:ENSP00000483305", "ENSEMBL:ENSP00000483305.1", "ENSEMBL:ENSP00000487608", "ENSEMBL:ENSP00000487608.1"], "information_content": 100.0}
{"id": "MONDO:0008962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Griscelli syndrome type 1", "equivalent_identifiers": ["MONDO:0008962", "DOID:0060832", "OMIM:214450", "orphanet:79476", "UMLS:C1859194", "MESH:C537301", "SNOMEDCT:1254946006", "medgen:347092", "icd11.foundation:875700770"], "information_content": 100.0}
{"id": "UniProtKB:O95453-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly(A)-specific ribonuclease PARN isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95453-1", "PR:O95453-1", "ENSEMBL:ENSP00000387911", "ENSEMBL:ENSP00000387911.2", "ENSEMBL:ENSP00000478668", "ENSEMBL:ENSP00000478668.1"], "information_content": 100.0}
{"id": "NCBIGene:126917", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFFO2", "equivalent_identifiers": ["NCBIGene:126917", "ENSEMBL:ENSG00000169991", "HGNC:27006", "UMLS:C2681608", "UniProtKB:Q5TF58", "PR:Q5TF58", "ENSEMBL:ENSP00000387941", "ENSEMBL:ENSP00000387941.2"], "information_content": 100.0}
{"id": "NCBIGene:84942", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR73", "equivalent_identifiers": ["NCBIGene:84942", "ENSEMBL:ENSG00000177082", "HGNC:25928", "OMIM:616144", "UMLS:C1823837", "UniProtKB:Q5RKY8", "UMLS:C4042516", "MESH:C000595586", "UniProtKB:Q6P4I2", "PR:Q6P4I2", "ENSEMBL:ENSP00000387982", "ENSEMBL:ENSP00000387982.3", "ENSEMBL:ENSP00000517130", "ENSEMBL:ENSP00000517130.1", "UniProtKB:Q6PJL8"], "information_content": 95.4}
{"id": "NCBIGene:1478", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSTF2", "equivalent_identifiers": ["NCBIGene:1478", "ENSEMBL:ENSG00000101811", "HGNC:2484", "OMIM:300907", "UMLS:C1413780", "UniProtKB:B3V096", "UniProtKB:B4DUD5", "UniProtKB:E7EWR4", "ENSEMBL:ENSP00000387996", "ENSEMBL:ENSP00000387996.2", "UniProtKB:P33240", "PR:P33240"]}
{"id": "UniProtKB:P00973-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "2'-5'-oligoadenylate synthase 1 isoform hp48 (human)", "equivalent_identifiers": ["UniProtKB:P00973-3", "PR:P00973-3", "ENSEMBL:ENSP00000388001", "ENSEMBL:ENSP00000388001.2"], "information_content": 100.0}
{"id": "NCBIGene:7311", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBA52", "equivalent_identifiers": ["NCBIGene:7311", "ENSEMBL:ENSG00000221983", "HGNC:12458", "OMIM:191321", "UMLS:C1421257", "UniProtKB:P62987", "PR:P62987", "ENSEMBL:ENSP00000388107", "ENSEMBL:ENSP00000388107.1", "ENSEMBL:ENSP00000396910", "ENSEMBL:ENSP00000396910.1", "ENSEMBL:ENSP00000470419", "ENSEMBL:ENSP00000470419.1", "ENSEMBL:ENSP00000470507", "ENSEMBL:ENSP00000470507.1", "ENSEMBL:ENSP00000471062", "ENSEMBL:ENSP00000471062.1", "ENSEMBL:ENSP00000471464", "ENSEMBL:ENSP00000471464.1", "ENSEMBL:ENSP00000471622", "ENSEMBL:ENSP00000471622.1", "ENSEMBL:ENSP00000472264", "ENSEMBL:ENSP00000472264.1", "ENSEMBL:ENSP00000472545", "ENSEMBL:ENSP00000472545.1", "ENSEMBL:ENSP00000473048", "ENSEMBL:ENSP00000473048.1", "UMLS:C4705926", "MESH:C000627486", "UniProtKB:Q3MIH3", "UniProtKB:Q7Z4P3"], "information_content": 87.2}
{"id": "UniProtKB:O15442-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metallophosphoesterase domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15442-1", "PR:O15442-1", "ENSEMBL:ENSP00000388137", "ENSEMBL:ENSP00000388137.1", "ENSEMBL:ENSP00000400686", "ENSEMBL:ENSP00000400686.1"], "information_content": 100.0}
{"id": "NCBIGene:4967", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OGDH", "equivalent_identifiers": ["NCBIGene:4967", "ENSEMBL:ENSG00000105953", "HGNC:8124", "OMIM:613022", "UMLS:C1417943", "UniProtKB:A0A140VJQ5", "UniProtKB:B4DH65", "UniProtKB:B4E3E9", "UniProtKB:E9PCR7", "ENSEMBL:ENSP00000414662", "ENSEMBL:ENSP00000414662.1", "UniProtKB:E9PDF2", "ENSEMBL:ENSP00000388183", "ENSEMBL:ENSP00000388183.1", "UniProtKB:Q02218", "PR:Q02218"]}
{"id": "NCBIGene:378925", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF148", "equivalent_identifiers": ["NCBIGene:378925", "ENSEMBL:ENSG00000235631", "HGNC:22411", "UMLS:C1427769", "UniProtKB:Q8N7C7", "PR:Q8N7C7", "ENSEMBL:ENSP00000388207", "ENSEMBL:ENSP00000388207.1"], "information_content": 100.0}
{"id": "NCBIGene:26153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIF26A", "equivalent_identifiers": ["NCBIGene:26153", "ENSEMBL:ENSG00000066735", "HGNC:20226", "OMIM:613231", "UMLS:C1426789", "UniProtKB:Q9ULI4", "PR:Q9ULI4", "ENSEMBL:ENSP00000388241", "ENSEMBL:ENSP00000388241.2", "UMLS:C5828863", "MESH:C000727453"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEM8-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic carboxypeptidase 3 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEM8-4", "PR:Q8NEM8-4", "ENSEMBL:ENSP00000388275", "ENSEMBL:ENSP00000388275.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFU3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thiosulfate:glutathione sulfurtransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFU3-1", "PR:Q8NFU3-1", "ENSEMBL:ENSP00000388293", "ENSEMBL:ENSP00000388293.2"], "information_content": 100.0}
{"id": "NCBIGene:23480", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEC61G", "equivalent_identifiers": ["NCBIGene:23480", "ENSEMBL:ENSG00000132432", "HGNC:18277", "OMIM:609215", "UMLS:C1425415", "UniProtKB:P60059", "PR:P60059", "ENSEMBL:ENSP00000341538", "ENSEMBL:ENSP00000341538.4", "ENSEMBL:ENSP00000378906", "ENSEMBL:ENSP00000378906.3", "ENSEMBL:ENSP00000388337", "ENSEMBL:ENSP00000388337.1", "ENSEMBL:ENSP00000409884", "ENSEMBL:ENSP00000409884.1", "UMLS:C1567752", "MESH:C499389"], "information_content": 92.8}
{"id": "UniProtKB:Q8N6I4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal enzyme trafficking factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6I4-1", "PR:Q8N6I4-1", "ENSEMBL:ENSP00000388431", "ENSEMBL:ENSP00000388431.3"], "information_content": 100.0}
{"id": "NCBIGene:147949", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF583", "equivalent_identifiers": ["NCBIGene:147949", "ENSEMBL:ENSG00000198440", "HGNC:26427", "UMLS:C1428588", "UniProtKB:Q96ND8", "PR:Q96ND8", "ENSEMBL:ENSP00000291598", "ENSEMBL:ENSP00000291598.7", "ENSEMBL:ENSP00000388502", "ENSEMBL:ENSP00000388502.2"], "information_content": 100.0}
{"id": "MONDO:0006082", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anal squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0006082", "DOID:5525", "EFO:1000081", "UMLS:C1412036", "MEDDRA:10073358", "NCIT:C9161", "medgen:237257"], "information_content": 81.7}
{"id": "UniProtKB:P13631-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinoic acid receptor gamma isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P13631-1", "PR:P13631-1", "ENSEMBL:ENSP00000388510", "ENSEMBL:ENSP00000388510.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y225-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RING finger protein 24 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y225-2", "PR:Q9Y225-2", "ENSEMBL:ENSP00000388550", "ENSEMBL:ENSP00000388550.2", "ENSEMBL:ENSP00000444711", "ENSEMBL:ENSP00000444711.1"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000388552", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000388552", "equivalent_identifiers": ["ENSEMBL:ENSP00000388552"]}
{"id": "UniProtKB:P49662-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49662-1", "PR:P49662-1", "ENSEMBL:ENSP00000388566", "ENSEMBL:ENSP00000388566.2"], "information_content": 100.0}
{"id": "UniProtKB:O95936-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eomesodermin homolog isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O95936-4", "PR:O95936-4", "ENSEMBL:ENSP00000388620", "ENSEMBL:ENSP00000388620.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRC7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRC7-1", "PR:Q9BRC7-1", "ENSEMBL:ENSP00000388631", "ENSEMBL:ENSP00000388631.2", "ENSEMBL:ENSP00000396942", "ENSEMBL:ENSP00000396942.1"], "information_content": 100.0}
{"id": "DOID:0070275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary nonpolyposis colorectal cancer type 4", "equivalent_identifiers": ["DOID:0070275"]}
{"id": "NCBIGene:84991", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBM17", "equivalent_identifiers": ["NCBIGene:84991", "ENSEMBL:ENSG00000134453", "HGNC:16944", "OMIM:606935", "UMLS:C1424655", "UniProtKB:Q5W009", "UMLS:C1438466", "MESH:C121693", "UniProtKB:Q96I25", "PR:Q96I25", "ENSEMBL:ENSP00000369218", "ENSEMBL:ENSP00000369218.4", "ENSEMBL:ENSP00000388638", "ENSEMBL:ENSP00000388638.1"], "information_content": 92.8}
{"id": "UniProtKB:O75746-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75746-1", "PR:O75746-1", "ENSEMBL:ENSP00000388658", "ENSEMBL:ENSP00000388658.2", "ENSEMBL:ENSP00000517838", "ENSEMBL:ENSP00000517838.1"], "information_content": 100.0}
{"id": "MONDO:0019072", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intrahepatic cholestasis", "equivalent_identifiers": ["MONDO:0019072", "DOID:1852", "UMLS:C0008372", "UMLS:C5139034", "MESH:D002780", "MEDDRA:10008638", "NCIT:C84400", "SNOMEDCT:235888006", "SNOMEDCT:4637005", "medgen:3042", "HP:0001406"], "information_content": 79.0}
{"id": "NCBIGene:388946", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM247", "equivalent_identifiers": ["NCBIGene:388946", "ENSEMBL:ENSG00000284701", "HGNC:42967", "UMLS:C3470106", "UniProtKB:A6NEH6", "PR:A6NEH6", "ENSEMBL:ENSP00000388684", "ENSEMBL:ENSP00000388684.1"], "information_content": 100.0}
{"id": "NCBIGene:10314", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LANCL1", "equivalent_identifiers": ["NCBIGene:10314", "ENSEMBL:ENSG00000115365", "HGNC:6508", "OMIM:604155", "UMLS:C1416795", "UniProtKB:B2R602", "UMLS:C1259914", "MESH:C485881", "UniProtKB:O43813", "PR:O43813", "ENSEMBL:ENSP00000233714", "ENSEMBL:ENSP00000233714.4", "ENSEMBL:ENSP00000388713", "ENSEMBL:ENSP00000388713.1", "ENSEMBL:ENSP00000393323", "ENSEMBL:ENSP00000393323.3", "ENSEMBL:ENSP00000393597", "ENSEMBL:ENSP00000393597.2", "ENSEMBL:ENSP00000396518", "ENSEMBL:ENSP00000396518.2", "ENSEMBL:ENSP00000397646", "ENSEMBL:ENSP00000397646.2", "UniProtKB:Q53TN2"], "information_content": 92.8}
{"id": "NCBIGene:390594", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KBTBD13", "equivalent_identifiers": ["NCBIGene:390594", "ENSEMBL:ENSG00000234438", "HGNC:37227", "OMIM:613727", "UMLS:C2829594", "UniProtKB:C9JR72", "PR:C9JR72", "ENSEMBL:ENSP00000388723", "ENSEMBL:ENSP00000388723.2", "UMLS:C2974728", "MESH:C555066"], "information_content": 95.4}
{"id": "UniProtKB:P28290-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ITPRID2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P28290-1", "PR:P28290-1", "ENSEMBL:ENSP00000388731", "ENSEMBL:ENSP00000388731.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZ20-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tissue-resident T-cell transcription regulator protein ZNF683 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZ20-1", "PR:Q8IZ20-1", "ENSEMBL:ENSP00000384782", "ENSEMBL:ENSP00000384782.1", "ENSEMBL:ENSP00000388792", "ENSEMBL:ENSP00000388792.1"], "information_content": 100.0}
{"id": "NCBIGene:1975", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF4B", "equivalent_identifiers": ["NCBIGene:1975", "ENSEMBL:ENSG00000063046", "HGNC:3285", "OMIM:603928", "UMLS:C1414350", "UniProtKB:B4DRM3", "UniProtKB:E7EX17", "ENSEMBL:ENSP00000388806", "ENSEMBL:ENSP00000388806.3", "UniProtKB:P23588", "PR:P23588", "UMLS:C5441610", "UniProtKB:Q7Z5Y0"]}
{"id": "UniProtKB:P42857-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal vesicle trafficking-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P42857-1", "PR:P42857-1", "ENSEMBL:ENSP00000381049", "ENSEMBL:ENSP00000381049.1", "ENSEMBL:ENSP00000388823", "ENSEMBL:ENSP00000388823.2", "ENSEMBL:ENSP00000408833", "ENSEMBL:ENSP00000408833.2", "ENSEMBL:ENSP00000421841", "ENSEMBL:ENSP00000421841.1", "ENSEMBL:ENSP00000425345", "ENSEMBL:ENSP00000425345.1", "ENSEMBL:ENSP00000425423", "ENSEMBL:ENSP00000425423.1", "ENSEMBL:ENSP00000426358", "ENSEMBL:ENSP00000426358.1", "ENSEMBL:ENSP00000480081", "ENSEMBL:ENSP00000480081.1"], "information_content": 100.0}
{"id": "UniProtKB:P12872-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "promotilin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P12872-1", "PR:P12872-1", "ENSEMBL:ENSP00000388825", "ENSEMBL:ENSP00000388825.2"], "information_content": 100.0}
{"id": "MONDO:0004568", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "paralytic ileus", "equivalent_identifiers": ["MONDO:0004568", "DOID:8442", "UMLS:C0030446", "MEDDRA:10001426", "MEDDRA:10021333", "MEDDRA:10033812", "MEDDRA:10033813", "MEDDRA:10033824", "MEDDRA:10033841", "NCIT:C93045", "SNOMEDCT:55525008", "medgen:18293", "icd11.foundation:1868011045", "ICD10:K56.0", "ICD9:560.1", "HP:0002590"], "information_content": 100.0}
{"id": "NCBIGene:130560", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA3", "equivalent_identifiers": ["NCBIGene:130560", "ENSEMBL:ENSG00000173699", "HGNC:17884", "OMIM:619857", "UMLS:C1425154", "UniProtKB:Q8NHX4", "PR:Q8NHX4", "ENSEMBL:ENSP00000388741", "ENSEMBL:ENSP00000388741.1", "ENSEMBL:ENSP00000388895", "ENSEMBL:ENSP00000388895.1", "ENSEMBL:ENSP00000399514", "ENSEMBL:ENSP00000399514.1", "ENSEMBL:ENSP00000403804", "ENSEMBL:ENSP00000403804.2", "UMLS:C1310843", "MESH:C476406"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQA9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome b-245 chaperone 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQA9-1", "PR:Q9BQA9-1", "ENSEMBL:ENSP00000307765", "ENSEMBL:ENSP00000307765.5", "ENSEMBL:ENSP00000388909", "ENSEMBL:ENSP00000388909.2", "ENSEMBL:ENSP00000462529", "ENSEMBL:ENSP00000462529.1", "ENSEMBL:ENSP00000463215", "ENSEMBL:ENSP00000463215.2", "ENSEMBL:ENSP00000463228", "ENSEMBL:ENSP00000463228.1", "ENSEMBL:ENSP00000463846", "ENSEMBL:ENSP00000463846.1", "ENSEMBL:ENSP00000464080", "ENSEMBL:ENSP00000464080.1", "ENSEMBL:ENSP00000513955", "ENSEMBL:ENSP00000513955.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14934-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor of activated T-cells, cytoplasmic 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q14934-3", "PR:Q14934-3", "ENSEMBL:ENSP00000388910", "ENSEMBL:ENSP00000388910.2", "ENSEMBL:ENSP00000493885", "ENSEMBL:ENSP00000493885.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6NW29-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RWD domain-containing protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NW29-1", "PR:Q6NW29-1", "ENSEMBL:ENSP00000388920", "ENSEMBL:ENSP00000388920.2"], "information_content": 100.0}
{"id": "UniProtKB:Q99081-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor 12 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q99081-3", "PR:Q99081-3", "ENSEMBL:ENSP00000331057", "ENSEMBL:ENSP00000331057.6", "ENSEMBL:ENSP00000388940", "ENSEMBL:ENSP00000388940.2"], "information_content": 100.0}
{"id": "UniProtKB:Q12765-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "secernin-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q12765-2", "PR:Q12765-2", "ENSEMBL:ENSP00000388942", "ENSEMBL:ENSP00000388942.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXS5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-1 complex subunit mu-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXS5-2", "PR:Q9BXS5-2", "ENSEMBL:ENSP00000388996", "ENSEMBL:ENSP00000388996.1"], "information_content": 100.0}
{"id": "UniProtKB:A5YM72-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carnosine synthase 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:A5YM72-5", "PR:A5YM72-5", "ENSEMBL:ENSP00000389009", "ENSEMBL:ENSP00000389009.2", "ENSEMBL:ENSP00000510668", "ENSEMBL:ENSP00000510668.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A7I2XYG4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A7I2XYG4_HUMAN Ciliogenesis and planar polarity effector complex subunit 1 (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A7I2XYG4", "ENSEMBL:ENSP00000389014", "ENSEMBL:ENSP00000389014.3"]}
{"id": "UniProtKB:P54108-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine-rich secretory protein 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P54108-3", "PR:P54108-3", "ENSEMBL:ENSP00000389026", "ENSEMBL:ENSP00000389026.2"], "information_content": 100.0}
{"id": "NCBIGene:27249", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMADHC", "equivalent_identifiers": ["NCBIGene:27249", "ENSEMBL:ENSG00000168288", "HGNC:25221", "OMIM:611935", "UMLS:C1538998", "UniProtKB:Q9H3L0", "PR:Q9H3L0", "ENSEMBL:ENSP00000301920", "ENSEMBL:ENSP00000301920.5", "ENSEMBL:ENSP00000389060", "ENSEMBL:ENSP00000389060.1", "UMLS:C2352773", "UMLS:C2700105", "MESH:C527938"], "information_content": 88.2}
{"id": "UniProtKB:Q15438-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytohesin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15438-1", "PR:Q15438-1", "ENSEMBL:ENSP00000389095", "ENSEMBL:ENSP00000389095.3"], "information_content": 100.0}
{"id": "NCBIGene:6147", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL23A", "equivalent_identifiers": ["NCBIGene:6147", "ENSEMBL:ENSG00000198242", "HGNC:10317", "OMIM:602326", "UMLS:C1419641", "UniProtKB:P62750", "PR:P62750", "ENSEMBL:ENSP00000389103", "ENSEMBL:ENSP00000389103.2"], "information_content": 92.8}
{"id": "NCBIGene:643988", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FNDC10", "equivalent_identifiers": ["NCBIGene:643988", "ENSEMBL:ENSG00000228594", "HGNC:42951", "UMLS:C4320388", "UniProtKB:F2Z333", "PR:F2Z333", "ENSEMBL:ENSP00000389111", "ENSEMBL:ENSP00000389111.1"], "information_content": 95.4}
{"id": "NCBIGene:1630", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCC", "equivalent_identifiers": ["NCBIGene:1630", "ENSEMBL:ENSG00000187323", "HGNC:2701", "OMIM:120470", "UMLS:C0079414", "UniProtKB:P43146", "PR:P43146", "ENSEMBL:ENSP00000389140", "ENSEMBL:ENSP00000389140.2", "UMLS:C1259909", "MESH:C501909", "UniProtKB:Q49AK4"], "information_content": 89.4}
{"id": "UniProtKB:Q86Y39-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86Y39-2", "PR:Q86Y39-2", "ENSEMBL:ENSP00000389160", "ENSEMBL:ENSP00000389160.1", "ENSEMBL:ENSP00000517806", "ENSEMBL:ENSP00000517806.1"], "information_content": 100.0}
{"id": "UniProtKB:O14974-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1 regulatory subunit 12A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14974-1", "PR:O14974-1", "ENSEMBL:ENSP00000261207", "ENSEMBL:ENSP00000261207.5", "ENSEMBL:ENSP00000389168", "ENSEMBL:ENSP00000389168.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycerate kinase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVS8-1", "PR:Q8IVS8-1", "ENSEMBL:ENSP00000389175", "ENSEMBL:ENSP00000389175.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NS00-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NS00-1", "PR:Q9NS00-1", "ENSEMBL:ENSP00000223122", "ENSEMBL:ENSP00000223122.2", "ENSEMBL:ENSP00000389176", "ENSEMBL:ENSP00000389176.2"], "information_content": 100.0}
{"id": "UniProtKB:P78346-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribonuclease P protein subunit p30 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P78346-2", "PR:P78346-2", "ENSEMBL:ENSP00000389182", "ENSEMBL:ENSP00000389182.1"], "information_content": 100.0}
{"id": "NCBIGene:148545", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NBPF4", "equivalent_identifiers": ["NCBIGene:148545", "ENSEMBL:ENSG00000196427", "HGNC:26550", "OMIM:613994", "UMLS:C1826362", "UniProtKB:B7ZAX3", "UniProtKB:Q96M43", "PR:Q96M43", "ENSEMBL:ENSP00000389237", "ENSEMBL:ENSP00000389237.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BPW9-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dehydrogenase/reductase SDR family member 9 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9BPW9-4", "PR:Q9BPW9-4", "ENSEMBL:ENSP00000389241", "ENSEMBL:ENSP00000389241.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXI9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nephronectin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXI9-3", "PR:Q6UXI9-3", "ENSEMBL:ENSP00000389252", "ENSEMBL:ENSP00000389252.2"], "information_content": 100.0}
{"id": "NCBIGene:27198", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HCAR1", "equivalent_identifiers": ["NCBIGene:27198", "ENSEMBL:ENSG00000196917", "HGNC:4532", "OMIM:606923", "UMLS:C1415263", "UniProtKB:A0A4Y1JWP1", "UMLS:C2605417", "MESH:C533610", "UniProtKB:Q9BXC0", "PR:Q9BXC0", "ENSEMBL:ENSP00000389255", "ENSEMBL:ENSP00000389255.1", "UMLS:C4724713"], "information_content": 100.0}
{"id": "UniProtKB:P55061-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Bax inhibitor 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P55061-2", "PR:P55061-2", "ENSEMBL:ENSP00000389277", "ENSEMBL:ENSP00000389277.1", "ENSEMBL:ENSP00000446734", "ENSEMBL:ENSP00000446734.1"], "information_content": 100.0}
{"id": "UniProtKB:C9JRZ8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aldo-keto reductase family 1 member B15 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:C9JRZ8-2", "PR:C9JRZ8-2", "ENSEMBL:ENSP00000389289", "ENSEMBL:ENSP00000389289.1", "ENSEMBL:ENSP00000397009", "ENSEMBL:ENSP00000397009.2"], "information_content": 100.0}
{"id": "NCBIGene:54927", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHCHD3", "equivalent_identifiers": ["NCBIGene:54927", "ENSEMBL:ENSG00000106554", "HGNC:21906", "OMIM:613748", "UMLS:C1427748", "UniProtKB:A4D1N4", "UMLS:C1958397", "MESH:C521110", "UniProtKB:B7Z1X9", "UniProtKB:C9JRZ6", "ENSEMBL:ENSP00000389297", "ENSEMBL:ENSP00000389297.2", "UniProtKB:Q9NX63", "PR:Q9NX63", "ENSEMBL:ENSP00000262570", "ENSEMBL:ENSP00000262570.5"]}
{"id": "UniProtKB:Q86SG3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deleted in azoospermia protein 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86SG3-2", "PR:Q86SG3-2", "ENSEMBL:ENSP00000389300", "ENSEMBL:ENSP00000389300.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYF1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "angiotensin-converting enzyme 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYF1-1", "PR:Q9BYF1-1", "ENSEMBL:ENSP00000252519", "ENSEMBL:ENSP00000252519.3", "ENSEMBL:ENSP00000389326", "ENSEMBL:ENSP00000389326.1", "ENSEMBL:ENSP00000504103", "ENSEMBL:ENSP00000504103.1", "ENSEMBL:ENSP00000505992", "ENSEMBL:ENSP00000505992.1"], "information_content": 100.0}
{"id": "NCBIGene:3921", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPSA", "equivalent_identifiers": ["NCBIGene:3921", "ENSEMBL:ENSG00000168028", "HGNC:6502", "OMIM:150370", "UMLS:C1539696", "UniProtKB:A0A0C4DG17", "ENSEMBL:ENSP00000389351", "ENSEMBL:ENSP00000389351.1", "UniProtKB:P08865", "PR:P08865", "ENSEMBL:ENSP00000346067", "ENSEMBL:ENSP00000346067.4", "ENSEMBL:ENSP00000410848", "ENSEMBL:ENSP00000410848.2", "ENSEMBL:ENSP00000513423", "ENSEMBL:ENSP00000513423.1", "ENSEMBL:ENSP00000513424", "ENSEMBL:ENSP00000513424.1", "ENSEMBL:ENSP00000513425", "ENSEMBL:ENSP00000513425.1", "UMLS:C2001624", "UMLS:C3816725", "MESH:C510624"]}
{"id": "NCBIGene:116832", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL39L", "equivalent_identifiers": ["NCBIGene:116832", "ENSEMBL:ENSG00000163923", "HGNC:17094", "OMIM:607547", "UMLS:C1424740", "UniProtKB:Q96EH5", "PR:Q96EH5", "ENSEMBL:ENSP00000296277", "ENSEMBL:ENSP00000296277.4", "ENSEMBL:ENSP00000389356", "ENSEMBL:ENSP00000389356.1", "ENSEMBL:ENSP00000397240", "ENSEMBL:ENSP00000397240.1", "UMLS:C1174509", "MESH:C471571"], "information_content": 100.0}
{"id": "UniProtKB:O95644-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor of activated T-cells, cytoplasmic 1 isoform C-alpha (human)", "equivalent_identifiers": ["UniProtKB:O95644-1", "PR:O95644-1", "ENSEMBL:ENSP00000389377", "ENSEMBL:ENSP00000389377.2"], "information_content": 95.4}
{"id": "NCBIGene:114790", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STK11IP", "equivalent_identifiers": ["NCBIGene:114790", "ENSEMBL:ENSG00000144589", "HGNC:19184", "OMIM:607172", "UMLS:C1426073", "UniProtKB:Q8N1F8", "PR:Q8N1F8", "ENSEMBL:ENSP00000389383", "ENSEMBL:ENSP00000389383.1", "UMLS:C1434834", "MESH:C491653"], "information_content": 90.9}
{"id": "UniProtKB:Q6NUI2-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q6NUI2-4", "PR:Q6NUI2-4", "ENSEMBL:ENSP00000389395", "ENSEMBL:ENSP00000389395.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0F1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 44 kDa isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0F1-2", "PR:Q9C0F1-2", "ENSEMBL:ENSP00000389427", "ENSEMBL:ENSP00000389427.2", "ENSEMBL:ENSP00000408221", "ENSEMBL:ENSP00000408221.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14157-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-associated protein 2-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14157-2", "PR:Q14157-2", "ENSEMBL:ENSP00000355343", "ENSEMBL:ENSP00000355343.2", "ENSEMBL:ENSP00000389445", "ENSEMBL:ENSP00000389445.1"], "information_content": 100.0}
{"id": "NCBIGene:116179", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGM7", "equivalent_identifiers": ["NCBIGene:116179", "ENSEMBL:ENSG00000159495", "HGNC:30790", "OMIM:606776", "UMLS:C1539957", "UniProtKB:Q96PF1", "PR:Q96PF1", "ENSEMBL:ENSP00000389466", "ENSEMBL:ENSP00000389466.2", "UMLS:C4723519"], "information_content": 100.0}
{"id": "UniProtKB:Q5JQC4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CT47A_HUMAN Cancer/testis antigen 47A (sprot)", "equivalent_identifiers": ["UniProtKB:Q5JQC4", "PR:Q5JQC4", "ENSEMBL:ENSP00000389513", "ENSEMBL:ENSP00000389513.2", "ENSEMBL:ENSP00000390070", "ENSEMBL:ENSP00000390070.2", "ENSEMBL:ENSP00000391318", "ENSEMBL:ENSP00000391318.2", "ENSEMBL:ENSP00000392283", "ENSEMBL:ENSP00000392283.2", "ENSEMBL:ENSP00000393315", "ENSEMBL:ENSP00000393315.1", "ENSEMBL:ENSP00000398559", "ENSEMBL:ENSP00000398559.2", "ENSEMBL:ENSP00000399711", "ENSEMBL:ENSP00000399711.2", "ENSEMBL:ENSP00000400046", "ENSEMBL:ENSP00000400046.2", "ENSEMBL:ENSP00000408204", "ENSEMBL:ENSP00000408204.2", "ENSEMBL:ENSP00000410400", "ENSEMBL:ENSP00000410400.2", "ENSEMBL:ENSP00000411909", "ENSEMBL:ENSP00000411909.2", "ENSEMBL:ENSP00000414253", "ENSEMBL:ENSP00000414253.2", "ENSEMBL:ENSP00000500004", "ENSEMBL:ENSP00000500004.1", "ENSEMBL:ENSP00000500057", "ENSEMBL:ENSP00000500057.1", "ENSEMBL:ENSP00000500110", "ENSEMBL:ENSP00000500110.1", "ENSEMBL:ENSP00000518276", "ENSEMBL:ENSP00000518276.1", "ENSEMBL:ENSP00000518277", "ENSEMBL:ENSP00000518277.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P283-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "semaphorin-5B isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9P283-4", "PR:Q9P283-4", "ENSEMBL:ENSP00000389588", "ENSEMBL:ENSP00000389588.2"], "information_content": 100.0}
{"id": "NCBIGene:286148", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPY19L4", "equivalent_identifiers": ["NCBIGene:286148", "ENSEMBL:ENSG00000156162", "HGNC:27829", "OMIM:613895", "UMLS:C1824981", "UniProtKB:Q7Z388", "PR:Q7Z388", "ENSEMBL:ENSP00000389630", "ENSEMBL:ENSP00000389630.2"], "information_content": 95.4}
{"id": "NCBIGene:10095", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARPC1B", "equivalent_identifiers": ["NCBIGene:10095", "ENSEMBL:ENSG00000130429", "HGNC:704", "OMIM:604223", "UMLS:C1412546", "UniProtKB:A4D275", "UMLS:C1137869", "MESH:C460821", "UniProtKB:O15143", "PR:O15143", "ENSEMBL:ENSP00000388802", "ENSEMBL:ENSP00000388802.2", "ENSEMBL:ENSP00000389631", "ENSEMBL:ENSP00000389631.1", "ENSEMBL:ENSP00000398110", "ENSEMBL:ENSP00000398110.2", "ENSEMBL:ENSP00000398620", "ENSEMBL:ENSP00000398620.2", "ENSEMBL:ENSP00000403211", "ENSEMBL:ENSP00000403211.2", "ENSEMBL:ENSP00000410238", "ENSEMBL:ENSP00000410238.2", "ENSEMBL:ENSP00000494033", "ENSEMBL:ENSP00000494033.1", "ENSEMBL:ENSP00000496599", "ENSEMBL:ENSP00000496599.1", "UMLS:C2984549"], "information_content": 84.8}
{"id": "UniProtKB:P18859-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP synthase-coupling factor 6, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P18859-2", "PR:P18859-2", "ENSEMBL:ENSP00000389649", "ENSEMBL:ENSP00000389649.2"], "information_content": 100.0}
{"id": "UniProtKB:Q495C1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable E3 SUMO-protein ligase RNF212 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q495C1-1", "PR:Q495C1-1", "ENSEMBL:ENSP00000389709", "ENSEMBL:ENSP00000389709.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UI47-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "catenin alpha-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UI47-1", "PR:Q9UI47-1", "ENSEMBL:ENSP00000389714", "ENSEMBL:ENSP00000389714.1", "ENSEMBL:ENSP00000508047", "ENSEMBL:ENSP00000508047.1", "ENSEMBL:ENSP00000508371", "ENSEMBL:ENSP00000508371.1"], "information_content": 100.0}
{"id": "MONDO:0001707", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiac sarcoidosis", "equivalent_identifiers": ["MONDO:0001707", "DOID:13405", "UMLS:C0392077", "MEDDRA:10007604", "MEDDRA:10019307", "MEDDRA:10039488", "NCIT:C35589", "SNOMEDCT:75403004", "medgen:140260"], "information_content": 100.0}
{"id": "NCBIGene:220002", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYB561A3", "equivalent_identifiers": ["NCBIGene:220002", "ENSEMBL:ENSG00000162144", "HGNC:23014", "OMIM:618757", "UMLS:C3543729", "UniProtKB:F5H1Q2", "ENSEMBL:ENSP00000389745", "ENSEMBL:ENSP00000389745.2", "UMLS:C5564925", "MESH:C000720828", "UniProtKB:Q8NBI2", "PR:Q8NBI2"]}
{"id": "NCBIGene:79156", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLEKHF1", "equivalent_identifiers": ["NCBIGene:79156", "ENSEMBL:ENSG00000166289", "HGNC:20764", "OMIM:615200", "UMLS:C1427120", "UniProtKB:B4DWN9", "UMLS:C1702254", "MESH:C508358", "UniProtKB:Q96S99", "PR:Q96S99", "ENSEMBL:ENSP00000389787", "ENSEMBL:ENSP00000389787.2", "ENSEMBL:ENSP00000466292", "ENSEMBL:ENSP00000466292.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9H410-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinetochore-associated protein DSN1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H410-1", "PR:Q9H410-1", "ENSEMBL:ENSP00000362855", "ENSEMBL:ENSP00000362855.4", "ENSEMBL:ENSP00000389810", "ENSEMBL:ENSP00000389810.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6JQN1-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-CoA dehydrogenase family member 10 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q6JQN1-5", "PR:Q6JQN1-5", "ENSEMBL:ENSP00000389813", "ENSEMBL:ENSP00000389813.2"], "information_content": 100.0}
{"id": "NCBIGene:9370", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADIPOQ", "equivalent_identifiers": ["NCBIGene:9370", "ENSEMBL:ENSG00000181092", "HGNC:13633", "OMIM:605441", "UMLS:C1540187", "UniProtKB:A8K660", "UniProtKB:B2R773", "UniProtKB:Q15848", "PR:Q15848", "ENSEMBL:ENSP00000320709", "ENSEMBL:ENSP00000320709.2", "ENSEMBL:ENSP00000389814", "ENSEMBL:ENSP00000389814.2", "UMLS:C1438411", "MESH:C499918"], "information_content": 87.2}
{"id": "NCBIGene:285346", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF852", "equivalent_identifiers": ["NCBIGene:285346", "ENSEMBL:ENSG00000178917", "HGNC:27713", "UMLS:C2681164", "UniProtKB:A0AAQ5BIJ6", "ENSEMBL:ENSP00000520482", "ENSEMBL:ENSP00000520482.1", "UniProtKB:Q6ZMS4", "PR:Q6ZMS4", "ENSEMBL:ENSP00000389841", "ENSEMBL:ENSP00000389841.2"], "information_content": 100.0}
{"id": "MONDO:0011822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bartter disease type 3", "equivalent_identifiers": ["MONDO:0011822", "DOID:0110144", "OMIM:607364", "orphanet:93605", "UMLS:C1846343", "UMLS:C1846344", "MESH:C537653", "MESH:C564578", "SNOMEDCT:700111000", "medgen:335399"], "information_content": 100.0}
{"id": "NCBIGene:1747", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DLX3", "equivalent_identifiers": ["NCBIGene:1747", "ENSEMBL:ENSG00000064195", "HGNC:2916", "OMIM:600525", "UMLS:C1414077", "UniProtKB:O60479", "PR:O60479", "ENSEMBL:ENSP00000389870", "ENSEMBL:ENSP00000389870.2", "UMLS:C1665696"], "information_content": 92.8}
{"id": "UniProtKB:Q92564-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DCN1-like protein 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q92564-3", "PR:Q92564-3", "ENSEMBL:ENSP00000389900", "ENSEMBL:ENSP00000389900.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6P1Q0-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LETM1 domain-containing protein 1 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q6P1Q0-7", "PR:Q6P1Q0-7", "ENSEMBL:ENSP00000389903", "ENSEMBL:ENSP00000389903.2"], "information_content": 100.0}
{"id": "NCBIGene:1102", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RCBTB2", "equivalent_identifiers": ["NCBIGene:1102", "ENSEMBL:ENSG00000136161", "HGNC:1914", "OMIM:603524", "UMLS:C1826785", "UniProtKB:B4DWG0", "ENSEMBL:ENSP00000389910", "ENSEMBL:ENSP00000389910.2", "UMLS:C1137871", "MESH:C460840", "UniProtKB:B4E372", "ENSEMBL:ENSP00000443862", "ENSEMBL:ENSP00000443862.1", "UniProtKB:O95199", "PR:O95199", "UniProtKB:Q59FB7"]}
{"id": "NCBIGene:9842", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLEKHM1", "equivalent_identifiers": ["NCBIGene:9842", "ENSEMBL:ENSG00000225190", "HGNC:29017", "OMIM:611466", "UMLS:C1428775", "UniProtKB:A0A8V8TPW0", "ENSEMBL:ENSP00000514814", "ENSEMBL:ENSP00000514814.1", "UniProtKB:Q9Y4G2", "PR:Q9Y4G2", "ENSEMBL:ENSP00000389913", "ENSEMBL:ENSP00000389913.3", "ENSEMBL:ENSP00000394344", "ENSEMBL:ENSP00000394344.3", "ENSEMBL:ENSP00000479066", "ENSEMBL:ENSP00000479066.1", "ENSEMBL:ENSP00000483820", "ENSEMBL:ENSP00000483820.1", "UMLS:C1260197", "MESH:C476215"], "information_content": 92.8}
{"id": "UniProtKB:Q969T7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "7-methylguanosine phosphate-specific 5'-nucleotidase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969T7-1", "PR:Q969T7-1", "ENSEMBL:ENSP00000389948", "ENSEMBL:ENSP00000389948.2"], "information_content": 100.0}
{"id": "NCBIGene:91147", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM67", "equivalent_identifiers": ["NCBIGene:91147", "ENSEMBL:ENSG00000164953", "HGNC:28396", "OMIM:609884", "UMLS:C1823331", "UniProtKB:C9JHI2", "ENSEMBL:ENSP00000403035", "ENSEMBL:ENSP00000403035.2", "UMLS:C1172500", "MESH:C468846", "UniProtKB:Q5HYA8", "PR:Q5HYA8", "ENSEMBL:ENSP00000314488", "ENSEMBL:ENSP00000314488.4", "ENSEMBL:ENSP00000389998", "ENSEMBL:ENSP00000389998.3"], "information_content": 95.4}
{"id": "NCBIGene:90353", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTU1", "equivalent_identifiers": ["NCBIGene:90353", "ENSEMBL:ENSG00000142544", "HGNC:29590", "OMIM:612694", "UMLS:C1825847", "UniProtKB:Q7Z7A3", "PR:Q7Z7A3", "ENSEMBL:ENSP00000390011", "ENSEMBL:ENSP00000390011.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96LW9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and SCAN domain-containing protein 31 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LW9-1", "PR:Q96LW9-1", "ENSEMBL:ENSP00000345339", "ENSEMBL:ENSP00000345339.6", "ENSEMBL:ENSP00000380050", "ENSEMBL:ENSP00000380050.2", "ENSEMBL:ENSP00000390076", "ENSEMBL:ENSP00000390076.1", "ENSEMBL:ENSP00000413705", "ENSEMBL:ENSP00000413705.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZSJ9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein shisa-6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZSJ9-3", "PR:Q6ZSJ9-3", "ENSEMBL:ENSP00000390084", "ENSEMBL:ENSP00000390084.3"], "information_content": 100.0}
{"id": "UniProtKB:A0PG75-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid scramblase family member 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A0PG75-1", "PR:A0PG75-1", "ENSEMBL:ENSP00000390111", "ENSEMBL:ENSP00000390111.1", "ENSEMBL:ENSP00000417184", "ENSEMBL:ENSP00000417184.1"], "information_content": 100.0}
{"id": "NCBIGene:8925", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HERC1", "equivalent_identifiers": ["NCBIGene:8925", "ENSEMBL:ENSG00000103657", "HGNC:4867", "OMIM:605109", "UMLS:C1415511", "UniProtKB:Q15751", "PR:Q15751", "ENSEMBL:ENSP00000390158", "ENSEMBL:ENSP00000390158.2", "UMLS:C1430483", "MESH:C102169"], "information_content": 82.1}
{"id": "UniProtKB:Q8NB42-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 527 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NB42-1", "PR:Q8NB42-1", "ENSEMBL:ENSP00000390179", "ENSEMBL:ENSP00000390179.2"], "information_content": 100.0}
{"id": "MONDO:0004379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "female breast carcinoma", "equivalent_identifiers": ["MONDO:0004379", "DOID:0050671", "DOID:7843", "UMLS:C0007104", "NCIT:C2918", "SNOMEDCT:372064008", "SNOMEDCT:447782002", "medgen:40099"], "information_content": 84.2}
{"id": "UniProtKB:A8MT70-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger B-box domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A8MT70-1", "PR:A8MT70-1", "ENSEMBL:ENSP00000376519", "ENSEMBL:ENSP00000376519.2", "ENSEMBL:ENSP00000390232", "ENSEMBL:ENSP00000390232.3"], "information_content": 100.0}
{"id": "NCBIGene:3417", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IDH1", "equivalent_identifiers": ["NCBIGene:3417", "ENSEMBL:ENSG00000138413", "HGNC:5382", "OMIM:147700", "UMLS:C1415876", "UniProtKB:A0A024R3Y6", "UMLS:C2744065", "MESH:C543588", "UniProtKB:O75874", "PR:O75874", "ENSEMBL:ENSP00000260985", "ENSEMBL:ENSP00000260985.2", "ENSEMBL:ENSP00000390265", "ENSEMBL:ENSP00000390265.1", "ENSEMBL:ENSP00000410513", "ENSEMBL:ENSP00000410513.1", "UMLS:C2697821"], "information_content": 85.5}
{"id": "UniProtKB:Q9Y6M7-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium bicarbonate cotransporter 3 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6M7-7", "PR:Q9Y6M7-7", "ENSEMBL:ENSP00000390394", "ENSEMBL:ENSP00000390394.1"], "information_content": 100.0}
{"id": "UniProtKB:A2RRL7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 213 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2RRL7-1", "PR:A2RRL7-1", "ENSEMBL:ENSP00000390407", "ENSEMBL:ENSP00000390407.2"], "information_content": 100.0}
{"id": "NCBIGene:353345", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR141", "equivalent_identifiers": ["NCBIGene:353345", "ENSEMBL:ENSG00000187037", "HGNC:19997", "OMIM:609045", "UMLS:C1426590", "UniProtKB:Q7Z602", "PR:Q7Z602", "ENSEMBL:ENSP00000334540", "ENSEMBL:ENSP00000334540.1", "ENSEMBL:ENSP00000390410", "ENSEMBL:ENSP00000390410.1"], "information_content": 95.4}
{"id": "UniProtKB:Q7RTX7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cation channel sperm-associated protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTX7-1", "PR:Q7RTX7-1", "ENSEMBL:ENSP00000390423", "ENSEMBL:ENSP00000390423.3"], "information_content": 100.0}
{"id": "UniProtKB:P10070-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein GLI2 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P10070-5", "PR:P10070-5", "ENSEMBL:ENSP00000390436", "ENSEMBL:ENSP00000390436.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P0U4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CXXC-type zinc finger protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0U4-2", "PR:Q9P0U4-2", "ENSEMBL:ENSP00000390475", "ENSEMBL:ENSP00000390475.1"], "information_content": 100.0}
{"id": "NCBIGene:5587", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRKD1", "equivalent_identifiers": ["NCBIGene:5587", "ENSEMBL:ENSG00000184304", "HGNC:9407", "OMIM:605435", "UMLS:C1538716", "UniProtKB:F8WBA3", "ENSEMBL:ENSP00000390535", "ENSEMBL:ENSP00000390535.2", "UniProtKB:Q15139", "PR:Q15139", "ENSEMBL:ENSP00000333568", "ENSEMBL:ENSP00000333568.6", "UMLS:C2987025"]}
{"id": "UniProtKB:O15375-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "monocarboxylate transporter 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15375-1", "PR:O15375-1", "ENSEMBL:ENSP00000330141", "ENSEMBL:ENSP00000330141.4", "ENSEMBL:ENSP00000390564", "ENSEMBL:ENSP00000390564.2", "ENSEMBL:ENSP00000463434", "ENSEMBL:ENSP00000463434.1"], "information_content": 100.0}
{"id": "NCBIGene:23109", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDN", "equivalent_identifiers": ["NCBIGene:23109", "ENSEMBL:ENSG00000181418", "HGNC:24458", "OMIM:610588", "UMLS:C1539230", "UniProtKB:O94850", "PR:O94850", "ENSEMBL:ENSP00000390590", "ENSEMBL:ENSP00000390590.2"], "information_content": 95.4}
{"id": "NCBIGene:6336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCN10A", "equivalent_identifiers": ["NCBIGene:6336", "ENSEMBL:ENSG00000185313", "HGNC:10582", "OMIM:604427", "UMLS:C1419853", "UniProtKB:Q9Y5Y9", "PR:Q9Y5Y9", "ENSEMBL:ENSP00000390600", "ENSEMBL:ENSP00000390600.2", "UMLS:C1449236", "MESH:C568317"], "information_content": 100.0}
{"id": "UniProtKB:Q9UIR0-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "butyrophilin-like protein 2 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIR0-7", "PR:Q9UIR0-7", "ENSEMBL:ENSP00000390613", "ENSEMBL:ENSP00000390613.3", "ENSEMBL:ENSP00000399884", "ENSEMBL:ENSP00000399884.2", "ENSEMBL:ENSP00000414811", "ENSEMBL:ENSP00000414811.2", "ENSEMBL:ENSP00000415396", "ENSEMBL:ENSP00000415396.2", "ENSEMBL:ENSP00000416544", "ENSEMBL:ENSP00000416544.2"], "information_content": 100.0}
{"id": "UniProtKB:Q587J7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative ATP-dependent RNA helicase TDRD12 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q587J7-2", "PR:Q587J7-2", "ENSEMBL:ENSP00000390621", "ENSEMBL:ENSP00000390621.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8WVV9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein L-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVV9-1", "PR:Q8WVV9-1", "ENSEMBL:ENSP00000390625", "ENSEMBL:ENSP00000390625.3"], "information_content": 100.0}
{"id": "NCBIGene:150221", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RIMBP3C", "equivalent_identifiers": ["NCBIGene:150221", "ENSEMBL:ENSG00000183246", "HGNC:33892", "OMIM:612701", "UMLS:C2239890", "UniProtKB:A6NJZ7", "PR:A6NJZ7", "ENSEMBL:ENSP00000390630", "ENSEMBL:ENSP00000390630.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13336-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "urea transporter 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13336-2", "PR:Q13336-2", "ENSEMBL:ENSP00000390637", "ENSEMBL:ENSP00000390637.2", "ENSEMBL:ENSP00000412309", "ENSEMBL:ENSP00000412309.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3J6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial translation release factor in rescue isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3J6-1", "PR:Q9H3J6-1", "ENSEMBL:ENSP00000253233", "ENSEMBL:ENSP00000253233.1", "ENSEMBL:ENSP00000390647", "ENSEMBL:ENSP00000390647.1", "ENSEMBL:ENSP00000391513", "ENSEMBL:ENSP00000391513.2", "ENSEMBL:ENSP00000443072", "ENSEMBL:ENSP00000443072.2", "ENSEMBL:ENSP00000444843", "ENSEMBL:ENSP00000444843.2", "ENSEMBL:ENSP00000505808", "ENSEMBL:ENSP00000505808.1"], "information_content": 100.0}
{"id": "NCBIGene:10478", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A17", "equivalent_identifiers": ["NCBIGene:10478", "ENSEMBL:ENSG00000100372", "HGNC:10987", "OMIM:606795", "UMLS:C1420158", "UniProtKB:B4DP73", "UniProtKB:B4DU97", "UniProtKB:F6RTR7", "ENSEMBL:ENSP00000438355", "ENSEMBL:ENSP00000438355.2", "UniProtKB:O43808", "PR:O43808", "ENSEMBL:ENSP00000390722", "ENSEMBL:ENSP00000390722.2"], "information_content": 95.4}
{"id": "UniProtKB:Q8WVM8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Sec1 family domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVM8-1", "PR:Q8WVM8-1", "ENSEMBL:ENSP00000390783", "ENSEMBL:ENSP00000390783.2"], "information_content": 100.0}
{"id": "MONDO:0009145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "SchC6pf-Schulz-Passarge syndrome", "equivalent_identifiers": ["MONDO:0009145", "DOID:0111647", "OMIM:224750", "orphanet:50944", "UMLS:C1857069", "MESH:C565607", "SNOMEDCT:700062000", "medgen:347366"], "information_content": 100.0}
{"id": "NCBIGene:8705", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B3GALT4", "equivalent_identifiers": ["NCBIGene:8705", "ENSEMBL:ENSG00000235863", "HGNC:919", "OMIM:603095", "UMLS:C1412714", "UniProtKB:B3KQP5", "UniProtKB:O96024", "PR:O96024", "ENSEMBL:ENSP00000372696", "ENSEMBL:ENSP00000372696.5", "ENSEMBL:ENSP00000390784", "ENSEMBL:ENSP00000390784.1", "ENSEMBL:ENSP00000394876", "ENSEMBL:ENSP00000394876.3", "ENSEMBL:ENSP00000398660", "ENSEMBL:ENSP00000398660.3", "ENSEMBL:ENSP00000414880", "ENSEMBL:ENSP00000414880.3", "UniProtKB:Q5STJ7"], "information_content": 100.0}
{"id": "UniProtKB:Q53EV4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53EV4-1", "PR:Q53EV4-1", "ENSEMBL:ENSP00000007969", "ENSEMBL:ENSP00000007969.8", "ENSEMBL:ENSP00000390932", "ENSEMBL:ENSP00000390932.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86WG3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caytaxin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WG3-1", "PR:Q86WG3-1", "ENSEMBL:ENSP00000390941", "ENSEMBL:ENSP00000390941.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N2C7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein unc-80 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2C7-1", "PR:Q8N2C7-1", "ENSEMBL:ENSP00000391088", "ENSEMBL:ENSP00000391088.1"], "information_content": 100.0}
{"id": "NCBIGene:1111", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHEK1", "equivalent_identifiers": ["NCBIGene:1111", "ENSEMBL:ENSG00000149554", "HGNC:1925", "OMIM:603078", "UMLS:C1332753", "UniProtKB:B4DT73", "UniProtKB:E7EPP6", "ENSEMBL:ENSP00000391090", "ENSEMBL:ENSP00000391090.2", "ENSEMBL:ENSP00000518558", "ENSEMBL:ENSP00000518558.1", "UniProtKB:O14757", "PR:O14757", "UMLS:C0659150", "MESH:C000605867"]}
{"id": "UniProtKB:P0C7P3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SLFN14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0C7P3-1", "PR:P0C7P3-1", "ENSEMBL:ENSP00000391101", "ENSEMBL:ENSP00000391101.2", "ENSEMBL:ENSP00000501524", "ENSEMBL:ENSP00000501524.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBN7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinol dehydrogenase 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBN7-1", "PR:Q8NBN7-1", "ENSEMBL:ENSP00000391121", "ENSEMBL:ENSP00000391121.2", "ENSEMBL:ENSP00000477512", "ENSEMBL:ENSP00000477512.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXI3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and SOCS box protein 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXI3-1", "PR:Q8WXI3-1", "ENSEMBL:ENSP00000391137", "ENSEMBL:ENSP00000391137.2"], "information_content": 100.0}
{"id": "NCBIGene:10260", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DENND4A", "equivalent_identifiers": ["NCBIGene:10260", "ENSEMBL:ENSG00000174485", "HGNC:24321", "OMIM:600382", "UMLS:C1824913", "UniProtKB:A0A0U1RR27", "ENSEMBL:ENSP00000489304", "ENSEMBL:ENSP00000489304.2", "UniProtKB:A0A7I2RAZ6", "ENSEMBL:ENSP00000391167", "ENSEMBL:ENSP00000391167.4", "UMLS:C1314898", "MESH:C088830", "UniProtKB:Q05C90", "UniProtKB:Q7Z401", "PR:Q7Z401"]}
{"id": "MONDO:0013474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 17", "equivalent_identifiers": ["MONDO:0013474", "DOID:0110323", "OMIM:613873", "UMLS:C3151264", "NCIT:C172093", "medgen:462614"], "information_content": 100.0}
{"id": "MONDO:0001435", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bullous retinoschisis", "equivalent_identifiers": ["MONDO:0001435", "DOID:12108", "UMLS:C0344289", "MEDDRA:10006572", "SNOMEDCT:65545003", "medgen:576202", "ICD9:361.12"], "information_content": 100.0}
{"id": "UniProtKB:Q9BU19-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 692 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9BU19-5", "PR:Q9BU19-5", "ENSEMBL:ENSP00000391200", "ENSEMBL:ENSP00000391200.1"], "information_content": 100.0}
{"id": "NCBIGene:11068", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYB561D2", "equivalent_identifiers": ["NCBIGene:11068", "ENSEMBL:ENSG00000114395", "HGNC:30253", "OMIM:607068", "UMLS:C1539198", "UniProtKB:O14569", "PR:O14569", "ENSEMBL:ENSP00000232508", "ENSEMBL:ENSP00000232508.5", "ENSEMBL:ENSP00000391209", "ENSEMBL:ENSP00000391209.1", "ENSEMBL:ENSP00000400454", "ENSEMBL:ENSP00000400454.1", "ENSEMBL:ENSP00000410663", "ENSEMBL:ENSP00000410663.1", "UMLS:C1958668", "MESH:C521362"], "information_content": 95.4}
{"id": "MONDO:0011564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 8", "equivalent_identifiers": ["MONDO:0011564", "DOID:0111014", "OMIM:605549", "UMLS:C1854180", "MESH:C565322", "medgen:381360"], "information_content": 100.0}
{"id": "UniProtKB:P35998-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome regulatory subunit 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35998-1", "PR:P35998-1", "ENSEMBL:ENSP00000292644", "ENSEMBL:ENSP00000292644.3", "ENSEMBL:ENSP00000391211", "ENSEMBL:ENSP00000391211.1", "ENSEMBL:ENSP00000502939", "ENSEMBL:ENSP00000502939.1", "ENSEMBL:ENSP00000503179", "ENSEMBL:ENSP00000503179.1", "ENSEMBL:ENSP00000504608", "ENSEMBL:ENSP00000504608.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3V5L5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q3V5L5-2", "PR:Q3V5L5-2", "ENSEMBL:ENSP00000391227", "ENSEMBL:ENSP00000391227.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHD8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "septin-9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHD8-1", "PR:Q9UHD8-1", "ENSEMBL:ENSP00000391249", "ENSEMBL:ENSP00000391249.1"], "information_content": 100.0}
{"id": "MONDO:0001397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mononeuropathy", "equivalent_identifiers": ["MONDO:0001397", "DOID:1188", "EFO:0009558", "UMLS:C0494491", "MESH:D020422", "MEDDRA:10027917", "MEDDRA:10027919", "MEDDRA:10062203", "SNOMEDCT:128189008", "medgen:99214", "icd11.foundation:1866592137", "ICD10:G58.9", "HP:0009831"], "information_content": 80.2}
{"id": "NCBIGene:54715", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBFOX1", "equivalent_identifiers": ["NCBIGene:54715", "ENSEMBL:ENSG00000078328", "HGNC:18222", "OMIM:605104", "UMLS:C1854634", "UniProtKB:A0A6Q8PH77", "ENSEMBL:ENSP00000502616", "ENSEMBL:ENSP00000502616.1", "UniProtKB:A0A804HJM2", "ENSEMBL:ENSP00000507562", "ENSEMBL:ENSP00000507562.1", "UniProtKB:A0A804HKG7", "ENSEMBL:ENSP00000507921", "ENSEMBL:ENSP00000507921.1", "UniProtKB:B7Z1U7", "ENSEMBL:ENSP00000391269", "ENSEMBL:ENSP00000391269.4", "UMLS:C0960297", "MESH:C455479", "UniProtKB:F8VZG9", "ENSEMBL:ENSP00000446842", "ENSEMBL:ENSP00000446842.1", "UniProtKB:Q59HD3", "UniProtKB:Q9NWB1", "PR:Q9NWB1", "UMLS:C3273870", "UniProtKB:X5D7T5", "UniProtKB:X5DNY3", "UniProtKB:X5DP44"]}
{"id": "NCBIGene:344658", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAMD7", "equivalent_identifiers": ["NCBIGene:344658", "ENSEMBL:ENSG00000187033", "HGNC:25394", "OMIM:620493", "UMLS:C1428481", "UniProtKB:Q7Z3H4", "PR:Q7Z3H4", "ENSEMBL:ENSP00000334668", "ENSEMBL:ENSP00000334668.3", "ENSEMBL:ENSP00000391299", "ENSEMBL:ENSP00000391299.2"], "information_content": 100.0}
{"id": "UniProtKB:Q99719-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "septin-5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99719-1", "PR:Q99719-1", "ENSEMBL:ENSP00000391311", "ENSEMBL:ENSP00000391311.2"], "information_content": 100.0}
{"id": "UniProtKB:A6H8M9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-related family member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6H8M9-1", "PR:A6H8M9-1", "ENSEMBL:ENSP00000391409", "ENSEMBL:ENSP00000391409.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6PI98-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "INO80 complex subunit C isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6PI98-4", "PR:Q6PI98-4", "ENSEMBL:ENSP00000391457", "ENSEMBL:ENSP00000391457.1"], "information_content": 100.0}
{"id": "UniProtKB:P29401-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transketolase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P29401-2", "PR:P29401-2", "ENSEMBL:ENSP00000391481", "ENSEMBL:ENSP00000391481.1"], "information_content": 100.0}
{"id": "NCBIGene:84968", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PNMA6A", "equivalent_identifiers": ["NCBIGene:84968", "ENSEMBL:ENSG00000235961", "HGNC:28248", "OMIM:300917", "UMLS:C1538685", "UniProtKB:P0CW24", "PR:P0CW24", "ENSEMBL:ENSP00000391488", "ENSEMBL:ENSP00000391488.3"], "information_content": 100.0}
{"id": "NCBIGene:10551", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGR2", "equivalent_identifiers": ["NCBIGene:10551", "ENSEMBL:ENSG00000106541", "HGNC:328", "OMIM:606358", "UMLS:C1332034", "UniProtKB:O95994", "PR:O95994", "ENSEMBL:ENSP00000391490", "ENSEMBL:ENSP00000391490.2", "UMLS:C1332035", "MESH:C502296", "UniProtKB:Q4JM46"], "information_content": 100.0}
{"id": "UniProtKB:Q96T55-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium channel subfamily K member 16 isoform c (human)", "equivalent_identifiers": ["UniProtKB:Q96T55-4", "PR:Q96T55-4", "ENSEMBL:ENSP00000391498", "ENSEMBL:ENSP00000391498.2"], "information_content": 100.0}
{"id": "NCBIGene:129881", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP210", "equivalent_identifiers": ["NCBIGene:129881", "ENSEMBL:ENSG00000154479", "HGNC:25064", "UMLS:C2681202", "UniProtKB:Q0VFZ6", "PR:Q0VFZ6", "ENSEMBL:ENSP00000391504", "ENSEMBL:ENSP00000391504.1"], "information_content": 100.0}
{"id": "NCBIGene:114926", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM19", "equivalent_identifiers": ["NCBIGene:114926", "ENSEMBL:ENSG00000176209", "HGNC:25166", "UMLS:C3542073", "UniProtKB:Q96E16", "PR:Q96E16", "ENSEMBL:ENSP00000390750", "ENSEMBL:ENSP00000390750.2", "ENSEMBL:ENSP00000391549", "ENSEMBL:ENSP00000391549.2", "ENSEMBL:ENSP00000405694", "ENSEMBL:ENSP00000405694.2", "ENSEMBL:ENSP00000408997", "ENSEMBL:ENSP00000408997.2", "ENSEMBL:ENSP00000429586", "ENSEMBL:ENSP00000429586.1"], "information_content": 100.0}
{"id": "MONDO:0000476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized dystonia", "equivalent_identifiers": ["MONDO:0000476", "DOID:0050835", "orphanet:376724", "UMLS:C0154674", "UMLS:C0154675", "UMLS:C1848954", "MESH:D004422", "MEDDRA:10042755", "SNOMEDCT:192859002", "SNOMEDCT:425492002", "medgen:341342", "ICD10:G24.1", "ICD10:G24.2", "ICD9:333.6", "ICD9:333.8", "HP:0007325"], "information_content": 88.2}
{"id": "UniProtKB:Q9HBI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-parvin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBI0-1", "PR:Q9HBI0-1", "ENSEMBL:ENSP00000391453", "ENSEMBL:ENSP00000391453.1", "ENSEMBL:ENSP00000391583", "ENSEMBL:ENSP00000391583.2"], "information_content": 100.0}
{"id": "UniProtKB:P29350-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein phosphatase non-receptor type 6 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P29350-4", "PR:P29350-4", "ENSEMBL:ENSP00000391592", "ENSEMBL:ENSP00000391592.1"], "information_content": 100.0}
{"id": "NCBIGene:2086", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERV3-1", "equivalent_identifiers": ["NCBIGene:2086", "ENSEMBL:ENSG00000213462", "HGNC:3454", "OMIM:131170", "UMLS:C1414448", "UniProtKB:Q14264", "PR:Q14264", "ENSEMBL:ENSP00000391594", "ENSEMBL:ENSP00000391594.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y303-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetylglucosamine-6-phosphate deacetylase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y303-3", "PR:Q9Y303-3", "ENSEMBL:ENSP00000391596", "ENSEMBL:ENSP00000391596.3"], "information_content": 100.0}
{"id": "MONDO:0020632", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy 93", "equivalent_identifiers": ["MONDO:0020632", "DOID:0112275", "OMIM:618012", "UMLS:C4693934", "medgen:1642888"], "information_content": 100.0}
{"id": "NCBIGene:5830", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PEX5", "equivalent_identifiers": ["NCBIGene:5830", "ENSEMBL:ENSG00000139197", "HGNC:9719", "OMIM:600414", "UMLS:C1419151", "UniProtKB:A0A0S2Z480", "UniProtKB:A0A0S2Z4F3", "UniProtKB:A0A0S2Z4H1", "UniProtKB:B4DR50", "UniProtKB:B4E0T2", "ENSEMBL:ENSP00000391601", "ENSEMBL:ENSP00000391601.2", "ENSEMBL:ENSP00000500694", "ENSEMBL:ENSP00000500694.1", "UniProtKB:P50542", "PR:P50542", "UMLS:C4546676", "MESH:C000614264"]}
{"id": "NCBIGene:163131", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF780B", "equivalent_identifiers": ["NCBIGene:163131", "ENSEMBL:ENSG00000128000", "HGNC:33109", "UMLS:C1824053", "UniProtKB:Q9Y6R6", "PR:Q9Y6R6", "ENSEMBL:ENSP00000391641", "ENSEMBL:ENSP00000391641.1", "ENSEMBL:ENSP00000487572", "ENSEMBL:ENSP00000487572.1", "ENSEMBL:ENSP00000503959", "ENSEMBL:ENSP00000503959.1"], "information_content": 100.0}
{"id": "UniProtKB:A4FU01-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myotubularin-related protein 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A4FU01-1", "PR:A4FU01-1", "ENSEMBL:ENSP00000391668", "ENSEMBL:ENSP00000391668.2"], "information_content": 100.0}
{"id": "MONDO:0013029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 9", "equivalent_identifiers": ["MONDO:0013029", "DOID:0111747", "OMIM:612876", "UMLS:C3887996", "medgen:854704"], "information_content": 100.0}
{"id": "UniProtKB:P56945-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "breast cancer anti-estrogen resistance protein 1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:P56945-6", "PR:P56945-6", "ENSEMBL:ENSP00000391669", "ENSEMBL:ENSP00000391669.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8IW40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal assembly factor 19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IW40-1", "PR:Q8IW40-1", "ENSEMBL:ENSP00000387252", "ENSEMBL:ENSP00000387252.1", "ENSEMBL:ENSP00000391692", "ENSEMBL:ENSP00000391692.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14671-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pumilio homolog 1 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q14671-3", "PR:Q14671-3", "ENSEMBL:ENSP00000391723", "ENSEMBL:ENSP00000391723.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UG56-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylserine decarboxylase proenzyme, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UG56-3", "PR:Q9UG56-3", "ENSEMBL:ENSP00000391739", "ENSEMBL:ENSP00000391739.2"], "information_content": 100.0}
{"id": "NCBIGene:144811", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LACC1", "equivalent_identifiers": ["NCBIGene:144811", "ENSEMBL:ENSG00000179630", "HGNC:26789", "OMIM:613409", "UMLS:C1824389", "UniProtKB:Q8IV20", "PR:Q8IV20", "ENSEMBL:ENSP00000317619", "ENSEMBL:ENSP00000317619.5", "ENSEMBL:ENSP00000391747", "ENSEMBL:ENSP00000391747.1", "UMLS:C4307488", "MESH:C000614085"], "information_content": 95.4}
{"id": "UniProtKB:Q9UKJ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paired immunoglobulin-like type 2 receptor beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKJ0-1", "PR:Q9UKJ0-1", "ENSEMBL:ENSP00000391748", "ENSEMBL:ENSP00000391748.1", "ENSEMBL:ENSP00000477365", "ENSEMBL:ENSP00000477365.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYA8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interactor of HORMAD1 protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYA8-1", "PR:Q8IYA8-1", "ENSEMBL:ENSP00000296449", "ENSEMBL:ENSP00000296449.5", "ENSEMBL:ENSP00000391788", "ENSEMBL:ENSP00000391788.1", "ENSEMBL:ENSP00000407837", "ENSEMBL:ENSP00000407837.2"], "information_content": 100.0}
{"id": "MONDO:0014910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 35", "equivalent_identifiers": ["MONDO:0014910", "DOID:0110620", "OMIM:617092", "UMLS:C4310721", "medgen:934688"], "information_content": 100.0}
{"id": "NCBIGene:8862", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APLN", "equivalent_identifiers": ["NCBIGene:8862", "ENSEMBL:ENSG00000171388", "HGNC:16665", "OMIM:300297", "UMLS:C1538915", "UniProtKB:Q9ULZ1", "PR:Q9ULZ1", "ENSEMBL:ENSP00000391800", "ENSEMBL:ENSP00000391800.2", "UMLS:C1454315", "MESH:C115436"], "information_content": 95.4}
{"id": "UniProtKB:O75030-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microphthalmia-associated transcription factor isoform hC2 (human)", "equivalent_identifiers": ["UniProtKB:O75030-6", "PR:O75030-6", "ENSEMBL:ENSP00000391803", "ENSEMBL:ENSP00000391803.3"], "information_content": 100.0}
{"id": "UniProtKB:P01344-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "insulin-like growth factor 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P01344-3", "PR:P01344-3", "ENSEMBL:ENSP00000391826", "ENSEMBL:ENSP00000391826.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVZ3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adaptin ear-binding coat-associated protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVZ3-2", "PR:Q9NVZ3-2", "ENSEMBL:ENSP00000391942", "ENSEMBL:ENSP00000391942.2", "ENSEMBL:ENSP00000516850", "ENSEMBL:ENSP00000516850.1"], "information_content": 100.0}
{"id": "MONDO:0014992", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lissencephaly 8", "equivalent_identifiers": ["MONDO:0014992", "DOID:0112233", "OMIM:617255", "UMLS:C4310646", "medgen:934613"], "information_content": 100.0}
{"id": "MONDO:0014934", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia, autosomal recessive 24", "equivalent_identifiers": ["MONDO:0014934", "DOID:0111615", "OMIM:617133", "UMLS:C4310699", "medgen:934666"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQC7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase CYLD isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQC7-1", "PR:Q9NQC7-1", "ENSEMBL:ENSP00000308928", "ENSEMBL:ENSP00000308928.9", "ENSEMBL:ENSP00000392025", "ENSEMBL:ENSP00000392025.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2D1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromodomain-helicase-DNA-binding protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2D1-1", "PR:Q9P2D1-1", "ENSEMBL:ENSP00000392028", "ENSEMBL:ENSP00000392028.1"], "information_content": 100.0}
{"id": "UniProtKB:P20020-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plasma membrane calcium-transporting ATPase 1 isoform B (human)", "equivalent_identifiers": ["UniProtKB:P20020-3", "PR:P20020-3", "ENSEMBL:ENSP00000392043", "ENSEMBL:ENSP00000392043.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96D71-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RalBP1-associated Eps domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96D71-1", "PR:Q96D71-1", "ENSEMBL:ENSP00000392065", "ENSEMBL:ENSP00000392065.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14689-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disco-interacting protein 2 homolog A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14689-1", "PR:Q14689-1", "ENSEMBL:ENSP00000392066", "ENSEMBL:ENSP00000392066.2", "ENSEMBL:ENSP00000520868", "ENSEMBL:ENSP00000520868.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15029-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "116 kDa U5 small nuclear ribonucleoprotein component isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15029-1", "PR:Q15029-1", "ENSEMBL:ENSP00000392094", "ENSEMBL:ENSP00000392094.1", "ENSEMBL:ENSP00000467805", "ENSEMBL:ENSP00000467805.1"], "information_content": 100.0}
{"id": "MONDO:0013717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "asphyxiating thoracic dystrophy 5", "equivalent_identifiers": ["MONDO:0013717", "DOID:0110089", "OMIM:614376", "UMLS:C3280598", "medgen:482228"], "information_content": 100.0}
{"id": "UniProtKB:Q3KP66-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "innate immunity activator protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q3KP66-3", "PR:Q3KP66-3", "ENSEMBL:ENSP00000392105", "ENSEMBL:ENSP00000392105.2"], "information_content": 100.0}
{"id": "UniProtKB:O00743-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 6 catalytic subunit isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O00743-3", "PR:O00743-3", "ENSEMBL:ENSP00000392147", "ENSEMBL:ENSP00000392147.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H902-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor expression-enhancing protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9H902-3", "PR:Q9H902-3", "ENSEMBL:ENSP00000392197", "ENSEMBL:ENSP00000392197.2"], "information_content": 100.0}
{"id": "NCBIGene:100144748", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLLN", "equivalent_identifiers": ["NCBIGene:100144748", "ENSEMBL:ENSG00000227268", "HGNC:37212", "OMIM:612105", "UMLS:C2677502", "UniProtKB:B2CW77", "PR:B2CW77", "ENSEMBL:ENSP00000392204", "ENSEMBL:ENSP00000392204.2", "ENSEMBL:ENSP00000489239", "ENSEMBL:ENSP00000489239.1", "ENSEMBL:ENSP00000495113", "ENSEMBL:ENSP00000495113.1", "UMLS:C2975591", "MESH:C554482"], "information_content": 100.0}
{"id": "UniProtKB:Q5VTM2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5VTM2-2", "PR:Q5VTM2-2", "ENSEMBL:ENSP00000392206", "ENSEMBL:ENSP00000392206.2"], "information_content": 100.0}
{"id": "NCBIGene:164714", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTLL8", "equivalent_identifiers": ["NCBIGene:164714", "ENSEMBL:ENSG00000138892", "HGNC:34000", "OMIM:619193", "UMLS:C2240132", "UniProtKB:A0A1C7CYW9", "ENSEMBL:ENSP00000392252", "ENSEMBL:ENSP00000392252.2"]}
{"id": "UniProtKB:Q9Y3F4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine-threonine kinase receptor-associated protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3F4-1", "PR:Q9Y3F4-1", "ENSEMBL:ENSP00000392270", "ENSEMBL:ENSP00000392270.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H8E8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine-rich protein 2-binding protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8E8-1", "PR:Q9H8E8-1", "ENSEMBL:ENSP00000366909", "ENSEMBL:ENSP00000366909.3", "ENSEMBL:ENSP00000392318", "ENSEMBL:ENSP00000392318.2", "ENSEMBL:ENSP00000424752", "ENSEMBL:ENSP00000424752.2", "ENSEMBL:ENSP00000503109", "ENSEMBL:ENSP00000503109.1", "ENSEMBL:ENSP00000503493", "ENSEMBL:ENSP00000503493.1", "ENSEMBL:ENSP00000504050", "ENSEMBL:ENSP00000504050.1", "ENSEMBL:ENSP00000504276", "ENSEMBL:ENSP00000504276.1"], "information_content": 100.0}
{"id": "UniProtKB:P51572-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-cell receptor-associated protein 31 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51572-2", "PR:P51572-2", "ENSEMBL:ENSP00000392330", "ENSEMBL:ENSP00000392330.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5JS54-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome assembly chaperone 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5JS54-2", "PR:Q5JS54-2", "ENSEMBL:ENSP00000392353", "ENSEMBL:ENSP00000392353.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86W11-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and SCAN domain-containing protein 30 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86W11-1", "PR:Q86W11-1", "ENSEMBL:ENSP00000329738", "ENSEMBL:ENSP00000329738.4", "ENSEMBL:ENSP00000392371", "ENSEMBL:ENSP00000392371.2"], "information_content": 100.0}
{"id": "MONDO:0006346", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic acinar cell carcinoma", "equivalent_identifiers": ["MONDO:0006346", "DOID:5742", "orphanet:424046", "EFO:1000439", "UMLS:C0279661", "MEDDRA:10073363", "NCIT:C7977", "SNOMEDCT:783771003", "medgen:83540"], "information_content": 87.2}
{"id": "UniProtKB:Q96EP1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase CHFR isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96EP1-1", "PR:Q96EP1-1", "ENSEMBL:ENSP00000392395", "ENSEMBL:ENSP00000392395.2"], "information_content": 100.0}
{"id": "UniProtKB:O75715-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epididymal secretory glutathione peroxidase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75715-1", "PR:O75715-1", "ENSEMBL:ENSP00000392398", "ENSEMBL:ENSP00000392398.2", "ENSEMBL:ENSP00000450365", "ENSEMBL:ENSP00000450365.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13183-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 13 member 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q13183-3", "PR:Q13183-3", "ENSEMBL:ENSP00000392411", "ENSEMBL:ENSP00000392411.3"], "information_content": 100.0}
{"id": "UniProtKB:P78509-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "reelin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78509-1", "PR:P78509-1", "ENSEMBL:ENSP00000392423", "ENSEMBL:ENSP00000392423.1"], "information_content": 100.0}
{"id": "UniProtKB:P0DI81-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trafficking protein particle complex subunit 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0DI81-1", "PR:P0DI81-1", "ENSEMBL:ENSP00000352708", "ENSEMBL:ENSP00000352708.5", "ENSEMBL:ENSP00000369953", "ENSEMBL:ENSP00000369953.1", "ENSEMBL:ENSP00000392495", "ENSEMBL:ENSP00000392495.3", "ENSEMBL:ENSP00000428900", "ENSEMBL:ENSP00000428900.2", "ENSEMBL:ENSP00000508155", "ENSEMBL:ENSP00000508155.1"], "information_content": 100.0}
{"id": "MONDO:0000836", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "disease of bone structure", "equivalent_identifiers": ["MONDO:0000836", "DOID:0080010", "UMLS:C0477681", "medgen:1843487"], "information_content": 81.3}
{"id": "UniProtKB:Q8N2Q7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuroligin-1 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2Q7-2", "PR:Q8N2Q7-2", "ENSEMBL:ENSP00000354541", "ENSEMBL:ENSP00000354541.4", "ENSEMBL:ENSP00000392500", "ENSEMBL:ENSP00000392500.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5FWE3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich transmembrane protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5FWE3-1", "PR:Q5FWE3-1", "ENSEMBL:ENSP00000295984", "ENSEMBL:ENSP00000295984.3", "ENSEMBL:ENSP00000392511", "ENSEMBL:ENSP00000392511.1"], "information_content": 100.0}
{"id": "NCBIGene:119016", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGAP4", "equivalent_identifiers": ["NCBIGene:119016", "ENSEMBL:ENSG00000188234", "HGNC:23459", "OMIM:621155", "UMLS:C1539152", "UniProtKB:A0A087X0Z1", "ENSEMBL:ENSP00000483751", "ENSEMBL:ENSP00000483751.2", "UniProtKB:Q96P64", "PR:Q96P64", "ENSEMBL:ENSP00000392513", "ENSEMBL:ENSP00000392513.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4R7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin monoglycylase TTLL3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4R7-1", "PR:Q9Y4R7-1", "ENSEMBL:ENSP00000392549", "ENSEMBL:ENSP00000392549.5"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEB5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid phosphatase 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEB5-1", "PR:Q8NEB5-1", "ENSEMBL:ENSP00000392553", "ENSEMBL:ENSP00000392553.2"], "information_content": 100.0}
{"id": "UniProtKB:Q92925-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92925-1", "PR:Q92925-1", "ENSEMBL:ENSP00000392617", "ENSEMBL:ENSP00000392617.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2N2-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 28 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2N2-5", "PR:Q9P2N2-5", "ENSEMBL:ENSP00000313506", "ENSEMBL:ENSP00000313506.3", "ENSEMBL:ENSP00000392660", "ENSEMBL:ENSP00000392660.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H9L7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "akirin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9L7-1", "PR:Q9H9L7-1", "ENSEMBL:ENSP00000392678", "ENSEMBL:ENSP00000392678.3"], "information_content": 100.0}
{"id": "MONDO:0015023", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MYPN-related myopathy", "equivalent_identifiers": ["MONDO:0015023", "DOID:0110933", "OMIM:617336", "UMLS:C4479186", "medgen:1384302"], "information_content": 100.0}
{"id": "NCBIGene:653269", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POTEI", "equivalent_identifiers": ["NCBIGene:653269", "ENSEMBL:ENSG00000196834", "HGNC:37093", "UMLS:C2828540", "UniProtKB:P0CG38", "PR:P0CG38", "ENSEMBL:ENSP00000392718", "ENSEMBL:ENSP00000392718.2"], "information_content": 95.4}
{"id": "NCBIGene:94026", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POM121L2", "equivalent_identifiers": ["NCBIGene:94026", "ENSEMBL:ENSG00000158553", "HGNC:13973", "UMLS:C1422314", "UniProtKB:Q96KW2", "PR:Q96KW2", "ENSEMBL:ENSP00000392726", "ENSEMBL:ENSP00000392726.1"], "information_content": 100.0}
{"id": "NCBIGene:89839", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGAP11B", "equivalent_identifiers": ["NCBIGene:89839", "ENSEMBL:ENSG00000285077", "HGNC:15782", "OMIM:616310", "UMLS:C1538923", "UniProtKB:Q3KRB8", "PR:Q3KRB8", "ENSEMBL:ENSP00000392760", "ENSEMBL:ENSP00000392760.2", "ENSEMBL:ENSP00000482099", "ENSEMBL:ENSP00000482099.1", "ENSEMBL:ENSP00000498432", "ENSEMBL:ENSP00000498432.1", "ENSEMBL:ENSP00000498846", "ENSEMBL:ENSP00000498846.1", "ENSEMBL:ENSP00000508838", "ENSEMBL:ENSP00000508838.1", "ENSEMBL:ENSP00000513489", "ENSEMBL:ENSP00000513489.1", "UMLS:C4042334", "MESH:C000596802"], "information_content": 100.0}
{"id": "UniProtKB:P40126-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "L-dopachrome tautomerase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P40126-2", "PR:P40126-2", "ENSEMBL:ENSP00000392762", "ENSEMBL:ENSP00000392762.1"], "information_content": 100.0}
{"id": "NCBIGene:6284", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S100A13", "equivalent_identifiers": ["NCBIGene:6284", "ENSEMBL:ENSG00000189171", "HGNC:10490", "OMIM:601989", "UMLS:C1419783", "UniProtKB:Q99584", "PR:Q99584", "ENSEMBL:ENSP00000344822", "ENSEMBL:ENSP00000344822.3", "ENSEMBL:ENSP00000376398", "ENSEMBL:ENSP00000376398.1", "ENSEMBL:ENSP00000376399", "ENSEMBL:ENSP00000376399.1", "ENSEMBL:ENSP00000392767", "ENSEMBL:ENSP00000392767.2", "ENSEMBL:ENSP00000507299", "ENSEMBL:ENSP00000507299.1", "ENSEMBL:ENSP00000520622", "ENSEMBL:ENSP00000520622.1", "ENSEMBL:ENSP00000520623", "ENSEMBL:ENSP00000520623.1", "ENSEMBL:ENSP00000520624", "ENSEMBL:ENSP00000520624.1", "UMLS:C1137400", "MESH:C511523"], "information_content": 95.4}
{"id": "UniProtKB:O14967-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calmegin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14967-1", "PR:O14967-1", "ENSEMBL:ENSP00000326699", "ENSEMBL:ENSP00000326699.5", "ENSEMBL:ENSP00000392782", "ENSEMBL:ENSP00000392782.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WYR1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoinositide 3-kinase regulatory subunit 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WYR1-1", "PR:Q8WYR1-1", "ENSEMBL:ENSP00000392812", "ENSEMBL:ENSP00000392812.1", "ENSEMBL:ENSP00000462433", "ENSEMBL:ENSP00000462433.1"], "information_content": 100.0}
{"id": "NCBIGene:26086", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPSM1", "equivalent_identifiers": ["NCBIGene:26086", "ENSEMBL:ENSG00000160360", "HGNC:17858", "OMIM:609491", "UMLS:C1425135", "UniProtKB:A0A087WVF5", "ENSEMBL:ENSP00000479405", "ENSEMBL:ENSP00000479405.1", "UMLS:C2003392", "MESH:C525615", "UniProtKB:A0A0A0MSK4", "ENSEMBL:ENSP00000392828", "ENSEMBL:ENSP00000392828.1", "UniProtKB:Q86YR5", "PR:Q86YR5"]}
{"id": "NCBIGene:3281", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSBP1", "equivalent_identifiers": ["NCBIGene:3281", "ENSEMBL:ENSG00000230989", "HGNC:5203", "OMIM:604553", "UMLS:C1415735", "UniProtKB:O75506", "PR:O75506", "ENSEMBL:ENSP00000392896", "ENSEMBL:ENSP00000392896.2", "ENSEMBL:ENSP00000458007", "ENSEMBL:ENSP00000458007.1", "UMLS:C1431398", "MESH:C113285"], "information_content": 95.4}
{"id": "MONDO:0014012", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease axonal type 2Q", "equivalent_identifiers": ["MONDO:0014012", "DOID:0110170", "OMIM:615025", "orphanet:329258", "UMLS:C3554366", "SNOMEDCT:773393001", "medgen:767280"], "information_content": 100.0}
{"id": "UniProtKB:Q9H7P9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family G member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H7P9-1", "PR:Q9H7P9-1", "ENSEMBL:ENSP00000392906", "ENSEMBL:ENSP00000392906.2"], "information_content": 100.0}
{"id": "NCBIGene:342931", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RFPL4A", "equivalent_identifiers": ["NCBIGene:342931", "ENSEMBL:ENSG00000223638", "HGNC:16449", "OMIM:612601", "UMLS:C2239881", "UniProtKB:A6NLU0", "PR:A6NLU0", "ENSEMBL:ENSP00000392936", "ENSEMBL:ENSP00000392936.2", "UMLS:C4044296", "MESH:C000597689"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUP3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxidoreductase HTATIP2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUP3-3", "PR:Q9BUP3-3", "ENSEMBL:ENSP00000392985", "ENSEMBL:ENSP00000392985.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6U841-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium-driven chloride bicarbonate exchanger isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6U841-1", "PR:Q6U841-1", "ENSEMBL:ENSP00000393066", "ENSEMBL:ENSP00000393066.1"], "information_content": 100.0}
{"id": "NCBIGene:2554", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABRA1", "equivalent_identifiers": ["NCBIGene:2554", "ENSEMBL:ENSG00000022355", "HGNC:4075", "OMIM:137160", "UMLS:C1414908", "UniProtKB:A8K177", "UniProtKB:P14867", "PR:P14867", "ENSEMBL:ENSP00000023897", "ENSEMBL:ENSP00000023897.6", "ENSEMBL:ENSP00000377517", "ENSEMBL:ENSP00000377517.4", "ENSEMBL:ENSP00000393097", "ENSEMBL:ENSP00000393097.2", "ENSEMBL:ENSP00000415441", "ENSEMBL:ENSP00000415441.2", "ENSEMBL:ENSP00000489738", "ENSEMBL:ENSP00000489738.1", "ENSEMBL:ENSP00000489839", "ENSEMBL:ENSP00000489839.1", "ENSEMBL:ENSP00000490320", "ENSEMBL:ENSP00000490320.1", "ENSEMBL:ENSP00000490804", "ENSEMBL:ENSP00000490804.1", "UMLS:C1738772", "MESH:C546240"], "information_content": 95.4}
{"id": "NCBIGene:57121", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LPAR5", "equivalent_identifiers": ["NCBIGene:57121", "ENSEMBL:ENSG00000184574", "HGNC:13307", "OMIM:606926", "UMLS:C1421929", "UniProtKB:Q5KU18", "UMLS:C1743483", "MESH:C512992", "UniProtKB:Q9H1C0", "PR:Q9H1C0", "ENSEMBL:ENSP00000327875", "ENSEMBL:ENSP00000327875.4", "ENSEMBL:ENSP00000393098", "ENSEMBL:ENSP00000393098.1"], "information_content": 100.0}
{"id": "UniProtKB:O60336-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60336-1", "PR:O60336-1", "ENSEMBL:ENSP00000393099", "ENSEMBL:ENSP00000393099.2"], "information_content": 100.0}
{"id": "NCBIGene:375612", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LHFPL3", "equivalent_identifiers": ["NCBIGene:375612", "ENSEMBL:ENSG00000187416", "HGNC:6589", "OMIM:609719", "UMLS:C1416847", "UniProtKB:A1L384", "ENSEMBL:ENSP00000385374", "ENSEMBL:ENSP00000385374.3", "UniProtKB:Q86UP9", "PR:Q86UP9", "ENSEMBL:ENSP00000393128", "ENSEMBL:ENSP00000393128.2", "UMLS:C5391416", "MESH:C000657408"], "information_content": 100.0}
{"id": "UniProtKB:O00311-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell division cycle 7-related protein kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00311-1", "PR:O00311-1", "ENSEMBL:ENSP00000234626", "ENSEMBL:ENSP00000234626.6", "ENSEMBL:ENSP00000393139", "ENSEMBL:ENSP00000393139.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCQ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCQ5-1", "PR:Q8NCQ5-1", "ENSEMBL:ENSP00000393154", "ENSEMBL:ENSP00000393154.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4B6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DDB1- and CUL4-associated factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4B6-1", "PR:Q9Y4B6-1", "ENSEMBL:ENSP00000393183", "ENSEMBL:ENSP00000393183.2", "ENSEMBL:ENSP00000506880", "ENSEMBL:ENSP00000506880.1"], "information_content": 100.0}
{"id": "MONDO:0013011", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atrial septal defect 5", "equivalent_identifiers": ["MONDO:0013011", "DOID:0110110", "OMIM:612794", "UMLS:C2748552", "MESH:C567561", "medgen:412580"], "information_content": 100.0}
{"id": "NCBIGene:57801", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HES4", "equivalent_identifiers": ["NCBIGene:57801", "ENSEMBL:ENSG00000188290", "HGNC:24149", "OMIM:608060", "UMLS:C1539667", "UniProtKB:D6REB3", "ENSEMBL:ENSP00000425085", "ENSEMBL:ENSP00000425085.1", "UniProtKB:E9PB28", "ENSEMBL:ENSP00000393198", "ENSEMBL:ENSP00000393198.2", "UniProtKB:Q9HCC6", "PR:Q9HCC6", "ENSEMBL:ENSP00000304595", "ENSEMBL:ENSP00000304595.7", "UMLS:C3539876"]}
{"id": "UniProtKB:Q4G0U5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 221 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4G0U5-1", "PR:Q4G0U5-1", "ENSEMBL:ENSP00000393222", "ENSEMBL:ENSP00000393222.2"], "information_content": 100.0}
{"id": "NCBIGene:6222", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS18", "equivalent_identifiers": ["NCBIGene:6222", "ENSEMBL:ENSG00000231500", "HGNC:10401", "OMIM:180473", "UMLS:C1419717", "UniProtKB:P62269", "PR:P62269", "ENSEMBL:ENSP00000211372", "ENSEMBL:ENSP00000211372.5", "ENSEMBL:ENSP00000393241", "ENSEMBL:ENSP00000393241.2", "ENSEMBL:ENSP00000403175", "ENSEMBL:ENSP00000403175.2", "ENSEMBL:ENSP00000412583", "ENSEMBL:ENSP00000412583.2", "ENSEMBL:ENSP00000416110", "ENSEMBL:ENSP00000416110.2", "UMLS:C1505400"], "information_content": 92.8}
{"id": "UniProtKB:P17097-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P17097-2", "PR:P17097-2", "ENSEMBL:ENSP00000393260", "ENSEMBL:ENSP00000393260.2"], "information_content": 100.0}
{"id": "NCBIGene:340719", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NANOS1", "equivalent_identifiers": ["NCBIGene:340719", "ENSEMBL:ENSG00000188613", "HGNC:23044", "OMIM:608226", "UMLS:C1427871", "UniProtKB:Q8WY41", "PR:Q8WY41", "ENSEMBL:ENSP00000393275", "ENSEMBL:ENSP00000393275.1", "UMLS:C1869172", "MESH:C515170"], "information_content": 100.0}
{"id": "NCBIGene:2260", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGFR1", "equivalent_identifiers": ["NCBIGene:2260", "ENSEMBL:ENSG00000077782", "HGNC:3688", "OMIM:136350", "UMLS:C0919509", "UniProtKB:A0A0S2Z3Q6", "UniProtKB:A0A0S2Z3T4", "ENSEMBL:ENSP00000507205", "ENSEMBL:ENSP00000507205.1", "UniProtKB:A0A3B3ISD1", "ENSEMBL:ENSP00000497266", "ENSEMBL:ENSP00000497266.1", "ENSEMBL:ENSP00000507997", "ENSEMBL:ENSP00000507997.1", "UniProtKB:A0A8I3B1S4", "ENSEMBL:ENSP00000340636", "ENSEMBL:ENSP00000340636.7", "ENSEMBL:ENSP00000393312", "ENSEMBL:ENSP00000393312.4", "UniProtKB:P11362", "PR:P11362", "UMLS:C1527757", "MESH:C496348"]}
{"id": "UniProtKB:Q9UBC2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epidermal growth factor receptor substrate 15-like 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBC2-2", "PR:Q9UBC2-2", "ENSEMBL:ENSP00000393313", "ENSEMBL:ENSP00000393313.1"], "information_content": 100.0}
{"id": "NCBIGene:81542", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMX1", "equivalent_identifiers": ["NCBIGene:81542", "ENSEMBL:ENSG00000139921", "HGNC:15487", "OMIM:610527", "UMLS:C1823559", "UniProtKB:Q9H3N1", "PR:Q9H3N1", "ENSEMBL:ENSP00000393316", "ENSEMBL:ENSP00000393316.2", "UMLS:C1309890", "MESH:C425307"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5X7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 4E type 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5X7-1", "PR:Q8N5X7-1", "ENSEMBL:ENSP00000393324", "ENSEMBL:ENSP00000393324.2"], "information_content": 100.0}
{"id": "UniProtKB:P21731-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thromboxane A2 receptor isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P21731-2", "PR:P21731-2", "ENSEMBL:ENSP00000393333", "ENSEMBL:ENSP00000393333.2"], "information_content": 100.0}
{"id": "UniProtKB:O60282-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin heavy chain isoform 5C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60282-1", "PR:O60282-1", "ENSEMBL:ENSP00000393379", "ENSEMBL:ENSP00000393379.1", "ENSEMBL:ENSP00000503013", "ENSEMBL:ENSP00000503013.1"], "information_content": 100.0}
{"id": "NCBIGene:6637", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNRPG", "equivalent_identifiers": ["NCBIGene:6637", "ENSEMBL:ENSG00000143977", "HGNC:11163", "OMIM:603542", "UMLS:C1420294", "UniProtKB:C9JVQ0", "ENSEMBL:ENSP00000393388", "ENSEMBL:ENSP00000393388.1", "UMLS:C1701848", "MESH:C526415", "UniProtKB:F5H013", "ENSEMBL:ENSP00000416334", "ENSEMBL:ENSP00000416334.2", "UniProtKB:P62308", "PR:P62308", "ENSEMBL:ENSP00000272348", "ENSEMBL:ENSP00000272348.2", "UniProtKB:Q49AN9", "ENSEMBL:ENSP00000391403", "ENSEMBL:ENSP00000391403.2", "ENSEMBL:ENSP00000402194", "ENSEMBL:ENSP00000402194.1", "ENSEMBL:ENSP00000441332", "ENSEMBL:ENSP00000441332.1"]}
{"id": "NCBIGene:4640", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYO1A", "equivalent_identifiers": ["NCBIGene:4640", "ENSEMBL:ENSG00000166866", "HGNC:7595", "OMIM:601478", "UMLS:C1417558", "UniProtKB:B2R643", "UMLS:C0067060", "MESH:C062291", "UniProtKB:Q9UBC5", "PR:Q9UBC5", "ENSEMBL:ENSP00000300119", "ENSEMBL:ENSP00000300119.3", "ENSEMBL:ENSP00000393392", "ENSEMBL:ENSP00000393392.2"], "information_content": 95.4}
{"id": "NCBIGene:23581", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CASP14", "equivalent_identifiers": ["NCBIGene:23581", "ENSEMBL:ENSG00000105141", "HGNC:1502", "OMIM:605848", "UMLS:C1413131", "UniProtKB:B2CIS9", "UMLS:C1571033", "MESH:C506446", "UniProtKB:P31944", "PR:P31944", "ENSEMBL:ENSP00000393417", "ENSEMBL:ENSP00000393417.2"], "information_content": 100.0}
{"id": "NCBIGene:150572", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMYD1", "equivalent_identifiers": ["NCBIGene:150572", "ENSEMBL:ENSG00000115593", "HGNC:20986", "OMIM:606846", "UMLS:C1427224", "UniProtKB:E9PHG3", "ENSEMBL:ENSP00000407888", "ENSEMBL:ENSP00000407888.2", "UMLS:C1434759", "MESH:C484340", "UniProtKB:Q8NB12", "PR:Q8NB12", "ENSEMBL:ENSP00000393453", "ENSEMBL:ENSP00000393453.2"], "information_content": 95.4}
{"id": "UniProtKB:Q9BW83-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 27 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BW83-1", "PR:Q9BW83-1", "ENSEMBL:ENSP00000393541", "ENSEMBL:ENSP00000393541.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6R1-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "electrogenic sodium bicarbonate cotransporter 1 isoform 5 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6R1-5", "PR:Q9Y6R1-5", "ENSEMBL:ENSP00000393557", "ENSEMBL:ENSP00000393557.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86VP3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphofurin acidic cluster sorting protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86VP3-2", "PR:Q86VP3-2", "ENSEMBL:ENSP00000393559", "ENSEMBL:ENSP00000393559.2"], "information_content": 100.0}
{"id": "NCBIGene:3113", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLA-DPA1", "equivalent_identifiers": ["NCBIGene:3113", "ENSEMBL:ENSG00000231389", "HGNC:4938", "OMIM:142880", "UMLS:C1415567", "UniProtKB:P20036", "PR:P20036", "ENSEMBL:ENSP00000363941", "ENSEMBL:ENSP00000363941.2", "ENSEMBL:ENSP00000372711", "ENSEMBL:ENSP00000372711.2", "ENSEMBL:ENSP00000393566", "ENSEMBL:ENSP00000393566.1", "ENSEMBL:ENSP00000397139", "ENSEMBL:ENSP00000397139.1", "ENSEMBL:ENSP00000397587", "ENSEMBL:ENSP00000397587.1", "ENSEMBL:ENSP00000405838", "ENSEMBL:ENSP00000405838.2", "ENSEMBL:ENSP00000406250", "ENSEMBL:ENSP00000406250.1", "ENSEMBL:ENSP00000427429", "ENSEMBL:ENSP00000427429.1", "ENSEMBL:ENSP00000509163", "ENSEMBL:ENSP00000509163.1", "UniProtKB:X5CKE2"], "information_content": 82.6}
{"id": "NCBIGene:57448", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BIRC6", "equivalent_identifiers": ["NCBIGene:57448", "ENSEMBL:ENSG00000115760", "HGNC:13516", "OMIM:605638", "UMLS:C1332417", "UniProtKB:A0A8V8TQB4", "ENSEMBL:ENSP00000515025", "ENSEMBL:ENSP00000515025.1", "UniProtKB:A0A8V8TR92", "ENSEMBL:ENSP00000515026", "ENSEMBL:ENSP00000515026.1", "UniProtKB:Q9NR09", "PR:Q9NR09", "ENSEMBL:ENSP00000393596", "ENSEMBL:ENSP00000393596.2", "UMLS:C0910612", "MESH:C401541"], "information_content": 77.6}
{"id": "NCBIGene:199800", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADM5", "equivalent_identifiers": ["NCBIGene:199800", "ENSEMBL:ENSG00000224420", "HGNC:27293", "OMIM:621171", "UMLS:C3541152", "UniProtKB:C9JUS6", "PR:C9JUS6", "ENSEMBL:ENSP00000393631", "ENSEMBL:ENSP00000393631.2"], "information_content": 100.0}
{"id": "NCBIGene:285172", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HYCC2", "equivalent_identifiers": ["NCBIGene:285172", "ENSEMBL:ENSG00000155744", "HGNC:28593", "UMLS:C1825269", "UniProtKB:A0A804HIT6", "ENSEMBL:ENSP00000507218", "ENSEMBL:ENSP00000507218.1", "UniProtKB:B3KUG1", "UniProtKB:Q8IXS8", "PR:Q8IXS8", "ENSEMBL:ENSP00000393667", "ENSEMBL:ENSP00000393667.2"], "information_content": 95.4}
{"id": "NCBIGene:374986", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MIGA1", "equivalent_identifiers": ["NCBIGene:374986", "ENSEMBL:ENSG00000180488", "HGNC:24741", "OMIM:616773", "UMLS:C1825140", "UniProtKB:A0A2R8YDC7", "ENSEMBL:ENSP00000494444", "ENSEMBL:ENSP00000494444.2", "UniProtKB:A0A2R8YF99", "ENSEMBL:ENSP00000359827", "ENSEMBL:ENSP00000359827.4", "ENSEMBL:ENSP00000494964", "ENSEMBL:ENSP00000494964.1", "ENSEMBL:ENSP00000495281", "ENSEMBL:ENSP00000495281.2", "UniProtKB:A0A2R8YGK2", "ENSEMBL:ENSP00000496099", "ENSEMBL:ENSP00000496099.2", "UniProtKB:A0AA34QW11", "ENSEMBL:ENSP00000518550", "ENSEMBL:ENSP00000518550.1", "UniProtKB:B4DK63", "UniProtKB:B7ZLZ8", "UniProtKB:F8W7S1", "ENSEMBL:ENSP00000393675", "ENSEMBL:ENSP00000393675.4", "ENSEMBL:ENSP00000495239", "ENSEMBL:ENSP00000495239.1", "UniProtKB:Q8NAN2", "PR:Q8NAN2"]}
{"id": "UniProtKB:Q6ZS10-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 17, member A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZS10-1", "PR:Q6ZS10-1", "ENSEMBL:ENSP00000393719", "ENSEMBL:ENSP00000393719.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6P5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sestrin-1 isoform hT1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6P5-2", "PR:Q9Y6P5-2", "ENSEMBL:ENSP00000393762", "ENSEMBL:ENSP00000393762.2"], "information_content": 100.0}
{"id": "UniProtKB:Q0JRZ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-BAR domain only protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q0JRZ9-1", "PR:Q0JRZ9-1", "ENSEMBL:ENSP00000393776", "ENSEMBL:ENSP00000393776.2"], "information_content": 100.0}
{"id": "NCBIGene:28512", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKIRAS1", "equivalent_identifiers": ["NCBIGene:28512", "ENSEMBL:ENSG00000197885", "HGNC:17899", "OMIM:604496", "UMLS:C1425160", "UniProtKB:Q9NYS0", "PR:Q9NYS0", "ENSEMBL:ENSP00000373411", "ENSEMBL:ENSP00000373411.3", "ENSEMBL:ENSP00000392307", "ENSEMBL:ENSP00000392307.2", "ENSEMBL:ENSP00000393785", "ENSEMBL:ENSP00000393785.2", "ENSEMBL:ENSP00000394214", "ENSEMBL:ENSP00000394214.2", "ENSEMBL:ENSP00000400385", "ENSEMBL:ENSP00000400385.2", "ENSEMBL:ENSP00000483749", "ENSEMBL:ENSP00000483749.1", "UMLS:C3529220", "MESH:C576702"], "information_content": 95.4}
{"id": "NCBIGene:648791", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R3G", "equivalent_identifiers": ["NCBIGene:648791", "ENSEMBL:ENSG00000219607", "HGNC:14945", "OMIM:619541", "UMLS:C1423076", "UniProtKB:B7ZBB8", "PR:B7ZBB8", "ENSEMBL:ENSP00000393832", "ENSEMBL:ENSP00000393832.2", "UMLS:C5690325", "MESH:C000721047"], "information_content": 100.0}
{"id": "NCBIGene:388552", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BLOC1S3", "equivalent_identifiers": ["NCBIGene:388552", "ENSEMBL:ENSG00000189114", "HGNC:20914", "OMIM:609762", "UMLS:C1538326", "UniProtKB:Q6QNY0", "PR:Q6QNY0", "ENSEMBL:ENSP00000393840", "ENSEMBL:ENSP00000393840.1", "ENSEMBL:ENSP00000468281", "ENSEMBL:ENSP00000468281.1", "UMLS:C1701778", "MESH:C509457"], "information_content": 100.0}
{"id": "NCBIGene:644591", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPIAL4G", "equivalent_identifiers": ["NCBIGene:644591", "ENSEMBL:ENSG00000236334", "HGNC:33996", "UMLS:C2678577", "UniProtKB:P0DN37", "PR:P0DN37", "ENSEMBL:ENSP00000393845", "ENSEMBL:ENSP00000393845.1"], "information_content": 100.0}
{"id": "MONDO:0006097", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Atypical Lipoma", "equivalent_identifiers": ["MONDO:0006097", "DOID:5690", "EFO:1000099", "UMLS:C1266129", "UMLS:C5848072", "NCIT:C176979", "NCIT:C6505", "SNOMEDCT:116063003", "SNOMEDCT:1290639002", "SNOMEDCT:1293066000", "medgen:266102"], "information_content": 84.8}
{"id": "NCBIGene:8399", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLA2G10", "equivalent_identifiers": ["NCBIGene:8399", "ENSEMBL:ENSG00000069764", "HGNC:9029", "OMIM:603603", "UMLS:C1418616", "UniProtKB:O15496", "PR:O15496", "ENSEMBL:ENSP00000393847", "ENSEMBL:ENSP00000393847.4", "ENSEMBL:ENSP00000479397", "ENSEMBL:ENSP00000479397.1", "UMLS:C1568591", "MESH:C516365"], "information_content": 92.8}
{"id": "NCBIGene:9853", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RUSC2", "equivalent_identifiers": ["NCBIGene:9853", "ENSEMBL:ENSG00000198853", "HGNC:23625", "OMIM:611053", "UMLS:C1428171", "UniProtKB:Q8N2Y8", "PR:Q8N2Y8", "ENSEMBL:ENSP00000355177", "ENSEMBL:ENSP00000355177.3", "ENSEMBL:ENSP00000393922", "ENSEMBL:ENSP00000393922.1", "UMLS:C1702003", "MESH:C509346"], "information_content": 95.4}
{"id": "NCBIGene:3833", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIFC1", "equivalent_identifiers": ["NCBIGene:3833", "ENSEMBL:ENSG00000237649", "HGNC:6389", "OMIM:603763", "UMLS:C1416694", "UniProtKB:A0A024RCS7", "UMLS:C1436879", "MESH:C486566", "UniProtKB:Q9BW19", "PR:Q9BW19", "ENSEMBL:ENSP00000363647", "ENSEMBL:ENSP00000363647.4", "ENSEMBL:ENSP00000393963", "ENSEMBL:ENSP00000393963.2", "ENSEMBL:ENSP00000407885", "ENSEMBL:ENSP00000407885.2"], "information_content": 88.2}
{"id": "UniProtKB:Q9BZL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase D2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZL6-1", "PR:Q9BZL6-1", "ENSEMBL:ENSP00000291281", "ENSEMBL:ENSP00000291281.3", "ENSEMBL:ENSP00000393978", "ENSEMBL:ENSP00000393978.1"], "information_content": 100.0}
{"id": "UniProtKB:O95069-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium channel subfamily K member 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95069-1", "PR:O95069-1", "ENSEMBL:ENSP00000394033", "ENSEMBL:ENSP00000394033.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13239-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Src-like-adapter isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q13239-5", "PR:Q13239-5", "ENSEMBL:ENSP00000394049", "ENSEMBL:ENSP00000394049.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVI9-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nostrin isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVI9-4", "PR:Q8IVI9-4", "ENSEMBL:ENSP00000394051", "ENSEMBL:ENSP00000394051.2", "ENSEMBL:ENSP00000402140", "ENSEMBL:ENSP00000402140.2"], "information_content": 100.0}
{"id": "NCBIGene:2664", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GDI1", "equivalent_identifiers": ["NCBIGene:2664", "ENSEMBL:ENSG00000203879", "HGNC:4226", "OMIM:300104", "UMLS:C1415038", "UniProtKB:A0A0S2Z3X8", "UMLS:C1665346", "UniProtKB:P31150", "PR:P31150", "ENSEMBL:ENSP00000394071", "ENSEMBL:ENSP00000394071.2"], "information_content": 90.9}
{"id": "UniProtKB:Q6NYC1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6NYC1-3", "PR:Q6NYC1-3", "ENSEMBL:ENSP00000394085", "ENSEMBL:ENSP00000394085.2"], "information_content": 100.0}
{"id": "NCBIGene:1611", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DAP", "equivalent_identifiers": ["NCBIGene:1611", "ENSEMBL:ENSG00000112977", "HGNC:2672", "OMIM:600954", "UMLS:C1413904", "UniProtKB:B4DQ75", "ENSEMBL:ENSP00000394163", "ENSEMBL:ENSP00000394163.2", "UMLS:C1430139", "MESH:C091572", "UniProtKB:P51397", "PR:P51397", "ENSEMBL:ENSP00000230895", "ENSEMBL:ENSP00000230895.7"]}
{"id": "NCBIGene:441234", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF716", "equivalent_identifiers": ["NCBIGene:441234", "ENSEMBL:ENSG00000182111", "HGNC:32458", "UMLS:C1824018", "UniProtKB:A6NP11", "PR:A6NP11", "ENSEMBL:ENSP00000394248", "ENSEMBL:ENSP00000394248.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7L1Q6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eIF5-mimic protein 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q7L1Q6-3", "PR:Q7L1Q6-3", "ENSEMBL:ENSP00000394316", "ENSEMBL:ENSP00000394316.2"], "information_content": 100.0}
{"id": "UniProtKB:Q155Q3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dixin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q155Q3-1", "PR:Q155Q3-1", "ENSEMBL:ENSP00000394352", "ENSEMBL:ENSP00000394352.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96I27-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 625 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96I27-2", "PR:Q96I27-2", "ENSEMBL:ENSP00000394380", "ENSEMBL:ENSP00000394380.2"], "information_content": 100.0}
{"id": "MONDO:0001464", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sigmoid colon cancer", "equivalent_identifiers": ["MONDO:0001464", "DOID:12192", "UMLS:C0153436", "MEDDRA:10026456", "NCIT:C194080", "SNOMEDCT:363410008", "medgen:509292", "ICD10:C18.7", "ICD9:153.3"], "information_content": 92.8}
{"id": "UniProtKB:Q96SI1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein KCTD15 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96SI1-1", "PR:Q96SI1-1", "ENSEMBL:ENSP00000394390", "ENSEMBL:ENSP00000394390.1", "ENSEMBL:ENSP00000464812", "ENSEMBL:ENSP00000464812.1", "ENSEMBL:ENSP00000467612", "ENSEMBL:ENSP00000467612.1", "ENSEMBL:ENSP00000508199", "ENSEMBL:ENSP00000508199.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJX3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anaphase-promoting complex subunit 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJX3-1", "PR:Q9UJX3-1", "ENSEMBL:ENSP00000394394", "ENSEMBL:ENSP00000394394.4"], "information_content": 100.0}
{"id": "NCBIGene:643376", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BTBD18", "equivalent_identifiers": ["NCBIGene:643376", "ENSEMBL:ENSG00000233436", "HGNC:37214", "OMIM:621145", "UMLS:C2828831", "UniProtKB:B2RXH4", "PR:B2RXH4", "ENSEMBL:ENSP00000394472", "ENSEMBL:ENSP00000394472.1", "ENSEMBL:ENSP00000397020", "ENSEMBL:ENSP00000397020.2", "ENSEMBL:ENSP00000432341", "ENSEMBL:ENSP00000432341.2", "UMLS:C4289940"], "information_content": 100.0}
{"id": "NCBIGene:85443", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCLK3", "equivalent_identifiers": ["NCBIGene:85443", "ENSEMBL:ENSG00000163673", "HGNC:19005", "OMIM:613167", "UMLS:C1539221", "UniProtKB:A0A1B0GTZ4", "ENSEMBL:ENSP00000489900", "ENSEMBL:ENSP00000489900.1", "UniProtKB:Q9C098", "PR:Q9C098", "ENSEMBL:ENSP00000394484", "ENSEMBL:ENSP00000394484.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULV4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coronin-1C isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULV4-3", "PR:Q9ULV4-3", "ENSEMBL:ENSP00000394496", "ENSEMBL:ENSP00000394496.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULL5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich protein 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULL5-3", "PR:Q9ULL5-3", "ENSEMBL:ENSP00000394510", "ENSEMBL:ENSP00000394510.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5SYE7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NHS-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SYE7-1", "PR:Q5SYE7-1", "ENSEMBL:ENSP00000394546", "ENSEMBL:ENSP00000394546.2"], "information_content": 100.0}
{"id": "MONDO:0033374", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 65", "equivalent_identifiers": ["MONDO:0033374", "DOID:0080430", "OMIM:618008", "UMLS:C4693925", "NCIT:C201518", "medgen:1634676"], "information_content": 100.0}
{"id": "UniProtKB:P45984-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase 9 isoform hAlpha-2 (human)", "equivalent_identifiers": ["UniProtKB:P45984-1", "PR:P45984-1", "ENSEMBL:ENSP00000394560", "ENSEMBL:ENSP00000394560.2"], "information_content": 100.0}
{"id": "UniProtKB:A6NNL0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NUT family member 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NNL0-1", "PR:A6NNL0-1", "ENSEMBL:ENSP00000394623", "ENSEMBL:ENSP00000394623.1"], "information_content": 100.0}
{"id": "MONDO:0006189", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Porocarcinoma", "equivalent_identifiers": ["MONDO:0006189", "DOID:7566", "EFO:1000229", "UMLS:C1266065", "MESH:D057090", "MEDDRA:10063609", "NCIT:C5560", "SNOMEDCT:128685001", "SNOMEDCT:254708001", "medgen:266098"], "information_content": 88.2}
{"id": "UniProtKB:P35372-10", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mu-type opioid receptor isoform h10 (human)", "equivalent_identifiers": ["UniProtKB:P35372-10", "PR:P35372-10", "ENSEMBL:ENSP00000394624", "ENSEMBL:ENSP00000394624.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NPR2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "semaphorin-4B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPR2-1", "PR:Q9NPR2-1", "ENSEMBL:ENSP00000332204", "ENSEMBL:ENSP00000332204.6", "ENSEMBL:ENSP00000394720", "ENSEMBL:ENSP00000394720.2"], "information_content": 100.0}
{"id": "UniProtKB:P49759-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein kinase CLK1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P49759-3", "PR:P49759-3", "ENSEMBL:ENSP00000394734", "ENSEMBL:ENSP00000394734.2"], "information_content": 100.0}
{"id": "NCBIGene:9658", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF516", "equivalent_identifiers": ["NCBIGene:9658", "ENSEMBL:ENSG00000101493", "HGNC:28990", "OMIM:615114", "UMLS:C1428766", "UniProtKB:Q2YDX2", "UMLS:C4277372", "MESH:C000606109", "UniProtKB:Q92618", "PR:Q92618", "ENSEMBL:ENSP00000394757", "ENSEMBL:ENSP00000394757.2"], "information_content": 95.4}
{"id": "NCBIGene:202333", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CMYA5", "equivalent_identifiers": ["NCBIGene:202333", "ENSEMBL:ENSG00000164309", "HGNC:14305", "OMIM:612193", "UMLS:C1422559", "UniProtKB:Q8N3K9", "PR:Q8N3K9", "ENSEMBL:ENSP00000394770", "ENSEMBL:ENSP00000394770.2", "UMLS:C1310014", "MESH:C430866"], "information_content": 95.4}
{"id": "UniProtKB:Q9P0U3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sentrin-specific protease 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0U3-1", "PR:Q9P0U3-1", "ENSEMBL:ENSP00000394791", "ENSEMBL:ENSP00000394791.2", "ENSEMBL:ENSP00000447328", "ENSEMBL:ENSP00000447328.1"], "information_content": 100.0}
{"id": "UniProtKB:Q12923-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein phosphatase non-receptor type 13 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q12923-4", "PR:Q12923-4", "ENSEMBL:ENSP00000394794", "ENSEMBL:ENSP00000394794.1", "ENSEMBL:ENSP00000426626", "ENSEMBL:ENSP00000426626.1"], "information_content": 100.0}
{"id": "MONDO:0007100", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial amyloid neuropathy", "equivalent_identifiers": ["MONDO:0007100", "DOID:0050638", "OMIM.PS:105210", "orphanet:271861", "EFO:0004129", "UMLS:C0206245", "MESH:C567782", "MESH:D028227", "MEDDRA:10019889", "MEDDRA:10057949", "NCIT:C84554", "SNOMEDCT:42295001", "medgen:104815", "icd11.foundation:807065795", "ICD10:E85.82"], "information_content": 87.2}
{"id": "UniProtKB:Q8NF50-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dedicator of cytokinesis protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NF50-1", "PR:Q8NF50-1", "ENSEMBL:ENSP00000394888", "ENSEMBL:ENSP00000394888.3"], "information_content": 100.0}
{"id": "NCBIGene:5005", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ORM2", "equivalent_identifiers": ["NCBIGene:5005", "ENSEMBL:ENSG00000228278", "HGNC:8499", "OMIM:138610", "UMLS:C1418187", "UniProtKB:P19652", "PR:P19652", "ENSEMBL:ENSP00000394936", "ENSEMBL:ENSP00000394936.2", "UMLS:C3492991", "MESH:C573095"], "information_content": 77.6}
{"id": "UniProtKB:Q6UXU4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "germ cell-specific gene 1-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXU4-1", "PR:Q6UXU4-1", "ENSEMBL:ENSP00000394954", "ENSEMBL:ENSP00000394954.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6TFL4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 24 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6TFL4-1", "PR:Q6TFL4-1", "ENSEMBL:ENSP00000242810", "ENSEMBL:ENSP00000242810.6", "ENSEMBL:ENSP00000395012", "ENSEMBL:ENSP00000395012.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96MH6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DGAT1/2-independent enzyme synthesizing storage lipids isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MH6-1", "PR:Q96MH6-1", "ENSEMBL:ENSP00000395204", "ENSEMBL:ENSP00000395204.2", "ENSEMBL:ENSP00000478242", "ENSEMBL:ENSP00000478242.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWQ7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "insulin growth factor-like family member 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWQ7-2", "PR:Q6UWQ7-2", "ENSEMBL:ENSP00000395219", "ENSEMBL:ENSP00000395219.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDW5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptotagmin-like protein 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDW5-2", "PR:Q8TDW5-2", "ENSEMBL:ENSP00000395220", "ENSEMBL:ENSP00000395220.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5BN46-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "piercer of microtubule wall 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5BN46-1", "PR:Q5BN46-1", "ENSEMBL:ENSP00000395281", "ENSEMBL:ENSP00000395281.2"], "information_content": 100.0}
{"id": "UniProtKB:P32970-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD70 antigen isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P32970-2", "PR:P32970-2", "ENSEMBL:ENSP00000395294", "ENSEMBL:ENSP00000395294.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N0U4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM185A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N0U4-1", "PR:Q8N0U4-1", "ENSEMBL:ENSP00000395340", "ENSEMBL:ENSP00000395340.2"], "information_content": 100.0}
{"id": "UniProtKB:O00754-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal alpha-mannosidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00754-1", "PR:O00754-1", "ENSEMBL:ENSP00000395473", "ENSEMBL:ENSP00000395473.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5X0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5X0-1", "PR:Q9Y5X0-1", "ENSEMBL:ENSP00000343709", "ENSEMBL:ENSP00000343709.5", "ENSEMBL:ENSP00000379661", "ENSEMBL:ENSP00000379661.1", "ENSEMBL:ENSP00000395474", "ENSEMBL:ENSP00000395474.3", "ENSEMBL:ENSP00000513550", "ENSEMBL:ENSP00000513550.1", "ENSEMBL:ENSP00000513551", "ENSEMBL:ENSP00000513551.1", "ENSEMBL:ENSP00000513552", "ENSEMBL:ENSP00000513552.1", "ENSEMBL:ENSP00000513558", "ENSEMBL:ENSP00000513558.1", "ENSEMBL:ENSP00000513560", "ENSEMBL:ENSP00000513560.1"], "information_content": 100.0}
{"id": "NCBIGene:100169851", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PATE3", "equivalent_identifiers": ["NCBIGene:100169851", "ENSEMBL:ENSG00000236027", "HGNC:35426", "UMLS:C2678552", "UniProtKB:B3GLJ2", "PR:B3GLJ2", "ENSEMBL:ENSP00000395505", "ENSEMBL:ENSP00000395505.1"], "information_content": 95.4}
{"id": "UniProtKB:P51608-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methyl-CpG-binding protein 2 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P51608-2", "PR:P51608-2", "ENSEMBL:ENSP00000395535", "ENSEMBL:ENSP00000395535.2"], "information_content": 82.1}
{"id": "UniProtKB:O15417-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trinucleotide repeat-containing gene 18 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15417-1", "PR:O15417-1", "ENSEMBL:ENSP00000395538", "ENSEMBL:ENSP00000395538.1"], "information_content": 100.0}
{"id": "UniProtKB:A0AAA9X7E5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0AAA9X7E5_HUMAN Elongin A (trembl)", "equivalent_identifiers": ["UniProtKB:A0AAA9X7E5", "ENSEMBL:ENSP00000395574", "ENSEMBL:ENSP00000395574.3"]}
{"id": "UniProtKB:P80217-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon-induced 35 kDa protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P80217-2", "PR:P80217-2", "ENSEMBL:ENSP00000395590", "ENSEMBL:ENSP00000395590.2"], "information_content": 100.0}
{"id": "NCBIGene:10663", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCR6", "equivalent_identifiers": ["NCBIGene:10663", "ENSEMBL:ENSG00000172215", "HGNC:16647", "OMIM:605163", "UMLS:C1332824", "UniProtKB:A0N0N3", "UniProtKB:O00574", "PR:O00574", "ENSEMBL:ENSP00000304414", "ENSEMBL:ENSP00000304414.4", "ENSEMBL:ENSP00000395704", "ENSEMBL:ENSP00000395704.1", "ENSEMBL:ENSP00000396218", "ENSEMBL:ENSP00000396218.1", "ENSEMBL:ENSP00000396886", "ENSEMBL:ENSP00000396886.1", "UMLS:C1332653", "MESH:C106330"], "information_content": 100.0}
{"id": "UniProtKB:O95398-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rap guanine nucleotide exchange factor 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95398-1", "PR:O95398-1", "ENSEMBL:ENSP00000373864", "ENSEMBL:ENSP00000373864.3", "ENSEMBL:ENSP00000395708", "ENSEMBL:ENSP00000395708.2"], "information_content": 100.0}
{"id": "UniProtKB:P98182-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 200 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P98182-1", "PR:P98182-1", "ENSEMBL:ENSP00000395723", "ENSEMBL:ENSP00000395723.3", "ENSEMBL:ENSP00000405786", "ENSEMBL:ENSP00000405786.2"], "information_content": 100.0}
{"id": "NCBIGene:100129842", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF737", "equivalent_identifiers": ["NCBIGene:100129842", "ENSEMBL:ENSG00000237440", "HGNC:32468", "OMIM:603984", "UMLS:C2240213", "UniProtKB:O75373", "PR:O75373", "ENSEMBL:ENSP00000395733", "ENSEMBL:ENSP00000395733.3"], "information_content": 100.0}
{"id": "NCBIGene:27037", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRMT2A", "equivalent_identifiers": ["NCBIGene:27037", "ENSEMBL:ENSG00000099899", "HGNC:24974", "OMIM:611151", "UMLS:C1970148", "UniProtKB:F2Z2W7", "ENSEMBL:ENSP00000395738", "ENSEMBL:ENSP00000395738.2", "UMLS:C5544204", "MESH:C000717798", "UniProtKB:Q8IZ69", "PR:Q8IZ69"]}
{"id": "UniProtKB:Q9BVP2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein-like 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVP2-1", "PR:Q9BVP2-1", "ENSEMBL:ENSP00000395772", "ENSEMBL:ENSP00000395772.1"], "information_content": 100.0}
{"id": "NCBIGene:91833", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR20", "equivalent_identifiers": ["NCBIGene:91833", "ENSEMBL:ENSG00000140153", "HGNC:19667", "OMIM:617741", "UMLS:C1426317", "UniProtKB:A0A088AWN2", "ENSEMBL:ENSP00000395793", "ENSEMBL:ENSP00000395793.3", "UMLS:C2933580", "MESH:C549040", "UniProtKB:B3KPG5", "UniProtKB:Q5JPH5", "UniProtKB:Q8TBZ3", "PR:Q8TBZ3"]}
{"id": "UniProtKB:Q96L73-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase, H3 lysine-36 specific isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96L73-1", "PR:Q96L73-1", "ENSEMBL:ENSP00000395929", "ENSEMBL:ENSP00000395929.2"], "information_content": 100.0}
{"id": "NCBIGene:25855", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BRMS1", "equivalent_identifiers": ["NCBIGene:25855", "ENSEMBL:ENSG00000174744", "HGNC:17262", "OMIM:606259", "UMLS:C1332450", "UniProtKB:G5E9I4", "ENSEMBL:ENSP00000396052", "ENSEMBL:ENSP00000396052.2", "UniProtKB:Q9HCU9", "PR:Q9HCU9", "ENSEMBL:ENSP00000353042", "ENSEMBL:ENSP00000353042.3", "UMLS:C0915193", "MESH:C410024"]}
{"id": "NCBIGene:57666", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBRSL1", "equivalent_identifiers": ["NCBIGene:57666", "ENSEMBL:ENSG00000112787", "HGNC:29308", "OMIM:620123", "UMLS:C2681526", "UniProtKB:A0A1B0GUN3", "ENSEMBL:ENSP00000490180", "ENSEMBL:ENSP00000490180.1", "UniProtKB:A0A7P0Z485", "ENSEMBL:ENSP00000505341", "ENSEMBL:ENSP00000505341.1", "UniProtKB:Q9HCM7", "PR:Q9HCM7", "ENSEMBL:ENSP00000396160", "ENSEMBL:ENSP00000396160.2"], "information_content": 95.4}
{"id": "UniProtKB:Q6UVW9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 2 member A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UVW9-1", "PR:Q6UVW9-1", "ENSEMBL:ENSP00000396163", "ENSEMBL:ENSP00000396163.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92913-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibroblast growth factor 13 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q92913-3", "PR:Q92913-3", "ENSEMBL:ENSP00000396198", "ENSEMBL:ENSP00000396198.2"], "information_content": 100.0}
{"id": "NCBIGene:9812", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DELE1", "equivalent_identifiers": ["NCBIGene:9812", "ENSEMBL:ENSG00000081791", "HGNC:28969", "OMIM:615741", "UMLS:C1537445", "UniProtKB:Q14154", "PR:Q14154", "ENSEMBL:ENSP00000194118", "ENSEMBL:ENSP00000194118.4", "ENSEMBL:ENSP00000396225", "ENSEMBL:ENSP00000396225.2", "UMLS:C2975695", "MESH:C554526"], "information_content": 95.4}
{"id": "UniProtKB:Q8N2C3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DEP domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2C3-1", "PR:Q8N2C3-1", "ENSEMBL:ENSP00000367490", "ENSEMBL:ENSP00000367490.2", "ENSEMBL:ENSP00000396234", "ENSEMBL:ENSP00000396234.1"], "information_content": 100.0}
{"id": "MONDO:0011752", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 4", "equivalent_identifiers": ["MONDO:0011752", "DOID:0111115", "OMIM:606966", "UMLS:C1847013", "UMLS:C2959367", "MESH:C564640", "SNOMEDCT:446989009", "medgen:339667"], "information_content": 100.0}
{"id": "NCBIGene:3550", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IK", "equivalent_identifiers": ["NCBIGene:3550", "ENSEMBL:ENSG00000113141", "HGNC:5958", "OMIM:600549", "UMLS:C1416378", "UniProtKB:Q13123", "PR:Q13123", "ENSEMBL:ENSP00000396301", "ENSEMBL:ENSP00000396301.2", "UMLS:C0290867", "MESH:C090444", "UniProtKB:Q95HA6", "UniProtKB:Q9UK43"], "information_content": 90.9}
{"id": "UniProtKB:P00374-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dihydrofolate reductase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P00374-1", "PR:P00374-1", "ENSEMBL:ENSP00000396308", "ENSEMBL:ENSP00000396308.2", "ENSEMBL:ENSP00000426474", "ENSEMBL:ENSP00000426474.1"], "information_content": 100.0}
{"id": "NCBIGene:6329", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCN4A", "equivalent_identifiers": ["NCBIGene:6329", "ENSEMBL:ENSG00000007314", "HGNC:10591", "OMIM:603967", "UMLS:C1419862", "UniProtKB:P35499", "PR:P35499", "ENSEMBL:ENSP00000396320", "ENSEMBL:ENSP00000396320.1", "UMLS:C0539580", "MESH:C106251"], "information_content": 90.9}
{"id": "NCBIGene:3120", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLA-DQB2", "equivalent_identifiers": ["NCBIGene:3120", "ENSEMBL:ENSG00000232629", "HGNC:4945", "OMIM:615161", "UMLS:C1415573", "UniProtKB:A0A0G2JH31", "ENSEMBL:ENSP00000322293", "ENSEMBL:ENSP00000322293.9", "ENSEMBL:ENSP00000391938", "ENSEMBL:ENSP00000391938.2", "ENSEMBL:ENSP00000394272", "ENSEMBL:ENSP00000394272.2", "ENSEMBL:ENSP00000406872", "ENSEMBL:ENSP00000406872.2", "UniProtKB:A0A2H4Z4R5", "UniProtKB:A2ADX3", "ENSEMBL:ENSP00000387578", "ENSEMBL:ENSP00000387578.2", "ENSEMBL:ENSP00000394759", "ENSEMBL:ENSP00000394759.2", "ENSEMBL:ENSP00000409159", "ENSEMBL:ENSP00000409159.2", "ENSEMBL:ENSP00000410512", "ENSEMBL:ENSP00000410512.2", "UniProtKB:P05538", "PR:P05538", "ENSEMBL:ENSP00000382569", "ENSEMBL:ENSP00000382569.4", "ENSEMBL:ENSP00000389067", "ENSEMBL:ENSP00000389067.2", "ENSEMBL:ENSP00000396502", "ENSEMBL:ENSP00000396502.2", "ENSEMBL:ENSP00000410132", "ENSEMBL:ENSP00000410132.2", "UniProtKB:Q5SR05", "ENSEMBL:ENSP00000388849", "ENSEMBL:ENSP00000388849.2", "ENSEMBL:ENSP00000392299", "ENSEMBL:ENSP00000392299.2", "ENSEMBL:ENSP00000396330", "ENSEMBL:ENSP00000396330.2", "ENSEMBL:ENSP00000416466", "ENSEMBL:ENSP00000416466.2"]}
{"id": "UniProtKB:Q3L8U1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromodomain-helicase-DNA-binding protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3L8U1-1", "PR:Q3L8U1-1", "ENSEMBL:ENSP00000381522", "ENSEMBL:ENSP00000381522.3", "ENSEMBL:ENSP00000396345", "ENSEMBL:ENSP00000396345.2"], "information_content": 100.0}
{"id": "NCBIGene:55900", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF302", "equivalent_identifiers": ["NCBIGene:55900", "ENSEMBL:ENSG00000089335", "HGNC:13848", "OMIM:621271", "UMLS:C1422232", "UniProtKB:A0A087WYF4", "ENSEMBL:ENSP00000481754", "ENSEMBL:ENSP00000481754.1", "UniProtKB:B3KY96", "UniProtKB:B4DMN2", "ENSEMBL:ENSP00000421201", "ENSEMBL:ENSP00000421201.1", "ENSEMBL:ENSP00000424292", "ENSEMBL:ENSP00000424292.1", "UniProtKB:D6R9Q0", "ENSEMBL:ENSP00000423235", "ENSEMBL:ENSP00000423235.1", "UniProtKB:E7EVR1", "ENSEMBL:ENSP00000396379", "ENSEMBL:ENSP00000396379.2", "UniProtKB:Q8NC84", "UniProtKB:Q9NR11", "PR:Q9NR11"]}
{"id": "UniProtKB:Q9Y236-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxidative stress-induced growth inhibitor 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y236-2", "PR:Q9Y236-2", "ENSEMBL:ENSP00000396445", "ENSEMBL:ENSP00000396445.2"], "information_content": 100.0}
{"id": "UniProtKB:Q08623-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pseudouridine-5'-phosphatase isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q08623-4", "PR:Q08623-4", "ENSEMBL:ENSP00000396452", "ENSEMBL:ENSP00000396452.2"], "information_content": 100.0}
{"id": "NCBIGene:7867", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAPKAPK3", "equivalent_identifiers": ["NCBIGene:7867", "ENSEMBL:ENSG00000114738", "HGNC:6888", "OMIM:602130", "UMLS:C1417028", "UniProtKB:Q16644", "PR:Q16644", "ENSEMBL:ENSP00000350639", "ENSEMBL:ENSP00000350639.2", "ENSEMBL:ENSP00000396467", "ENSEMBL:ENSP00000396467.1", "ENSEMBL:ENSP00000478922", "ENSEMBL:ENSP00000478922.1", "UMLS:C1744126"], "information_content": 95.4}
{"id": "NCBIGene:391475", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYTN", "equivalent_identifiers": ["NCBIGene:391475", "ENSEMBL:ENSG00000232125", "HGNC:23279", "OMIM:618510", "UMLS:C2239363", "UniProtKB:A2CJ06", "PR:A2CJ06", "ENSEMBL:ENSP00000396593", "ENSEMBL:ENSP00000396593.2"], "information_content": 95.4}
{"id": "UniProtKB:Q8NCI6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-galactosidase-1-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCI6-1", "PR:Q8NCI6-1", "ENSEMBL:ENSP00000396615", "ENSEMBL:ENSP00000396615.2"], "information_content": 100.0}
{"id": "UniProtKB:Q68CQ1-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "maestro heat-like repeat-containing protein family member 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68CQ1-7", "PR:Q68CQ1-7", "ENSEMBL:ENSP00000396622", "ENSEMBL:ENSP00000396622.2"], "information_content": 100.0}
{"id": "NCBIGene:51368", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX264", "equivalent_identifiers": ["NCBIGene:51368", "ENSEMBL:ENSG00000164081", "HGNC:30247", "OMIM:620608", "UMLS:C1539950", "UniProtKB:A0A087WTU3", "ENSEMBL:ENSP00000478139", "ENSEMBL:ENSP00000478139.1", "UMLS:C5226787", "MESH:C000654387", "UniProtKB:Q9Y6I9", "PR:Q9Y6I9", "ENSEMBL:ENSP00000340969", "ENSEMBL:ENSP00000340969.5", "ENSEMBL:ENSP00000378497", "ENSEMBL:ENSP00000378497.1", "ENSEMBL:ENSP00000396628", "ENSEMBL:ENSP00000396628.1", "ENSEMBL:ENSP00000398802", "ENSEMBL:ENSP00000398802.1", "ENSEMBL:ENSP00000408186", "ENSEMBL:ENSP00000408186.1", "ENSEMBL:ENSP00000477946", "ENSEMBL:ENSP00000477946.1"], "information_content": 95.4}
{"id": "NCBIGene:117246", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FTSJ3", "equivalent_identifiers": ["NCBIGene:117246", "ENSEMBL:ENSG00000108592", "HGNC:17136", "OMIM:618411", "UMLS:C1424772", "UniProtKB:Q8IY81", "PR:Q8IY81", "ENSEMBL:ENSP00000396673", "ENSEMBL:ENSP00000396673.2", "UMLS:C3494114", "MESH:C574541"], "information_content": 100.0}
{"id": "UniProtKB:P0C0L4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complement C4-A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0C0L4-1", "PR:P0C0L4-1", "ENSEMBL:ENSP00000396688", "ENSEMBL:ENSP00000396688.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9P121-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurotrimin isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9P121-4", "PR:Q9P121-4", "ENSEMBL:ENSP00000396722", "ENSEMBL:ENSP00000396722.2"], "information_content": 100.0}
{"id": "NCBIGene:140731", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD60", "equivalent_identifiers": ["NCBIGene:140731", "ENSEMBL:ENSG00000124227", "HGNC:16217", "UMLS:C1424093", "UniProtKB:Q9BZ19", "PR:Q9BZ19", "ENSEMBL:ENSP00000396747", "ENSEMBL:ENSP00000396747.1"], "information_content": 100.0}
{"id": "MONDO:0014213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome", "equivalent_identifiers": ["MONDO:0014213", "DOID:0070051", "OMIM:615502", "orphanet:363611", "UMLS:C3809686", "medgen:816016"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2N6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KAT8 regulatory NSL complex subunit 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2N6-3", "PR:Q9P2N6-3", "ENSEMBL:ENSP00000396749", "ENSEMBL:ENSP00000396749.1"], "information_content": 100.0}
{"id": "UniProtKB:P08651-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor 1 C-type isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P08651-1", "PR:P08651-1", "ENSEMBL:ENSP00000396843", "ENSEMBL:ENSP00000396843.2"], "information_content": 100.0}
{"id": "NCBIGene:90874", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF697", "equivalent_identifiers": ["NCBIGene:90874", "ENSEMBL:ENSG00000143067", "HGNC:32034", "OMIM:620981", "UMLS:C1823997", "UniProtKB:Q5TEC3", "PR:Q5TEC3", "ENSEMBL:ENSP00000396857", "ENSEMBL:ENSP00000396857.2"], "information_content": 100.0}
{"id": "MONDO:0014858", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 43", "equivalent_identifiers": ["MONDO:0014858", "DOID:0070073", "OMIM:616977", "UMLS:C4310771", "UMLS:C4707429", "SNOMEDCT:765434008", "medgen:934738"], "information_content": 100.0}
{"id": "MONDO:0012162", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patterned macular dystrophy 2", "equivalent_identifiers": ["MONDO:0012162", "DOID:0060864", "OMIM:608970", "UMLS:C1837029", "medgen:332348"], "information_content": 100.0}
{"id": "UniProtKB:Q07699-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium channel regulatory subunit beta-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q07699-2", "PR:Q07699-2", "ENSEMBL:ENSP00000396915", "ENSEMBL:ENSP00000396915.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCY9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "up-regulator of cell proliferation isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCY9-1", "PR:Q8TCY9-1", "ENSEMBL:ENSP00000396918", "ENSEMBL:ENSP00000396918.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H714-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein associated with UVRAG as autophagy enhancer isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H714-5", "PR:Q9H714-5", "ENSEMBL:ENSP00000374558", "ENSEMBL:ENSP00000374558.3", "ENSEMBL:ENSP00000396935", "ENSEMBL:ENSP00000396935.1", "ENSEMBL:ENSP00000502015", "ENSEMBL:ENSP00000502015.1", "ENSEMBL:ENSP00000502252", "ENSEMBL:ENSP00000502252.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNM6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome non-ATPase regulatory subunit 13 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNM6-2", "PR:Q9UNM6-2", "ENSEMBL:ENSP00000396937", "ENSEMBL:ENSP00000396937.2"], "information_content": 100.0}
{"id": "NCBIGene:22809", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATF5", "equivalent_identifiers": ["NCBIGene:22809", "ENSEMBL:ENSG00000169136", "HGNC:790", "OMIM:606398", "UMLS:C1412621", "UniProtKB:Q9Y2D1", "PR:Q9Y2D1", "ENSEMBL:ENSP00000396954", "ENSEMBL:ENSP00000396954.1", "ENSEMBL:ENSP00000470633", "ENSEMBL:ENSP00000470633.1", "UMLS:C1682354", "UMLS:C3542400", "MESH:C507532"], "information_content": 100.0}
{"id": "UniProtKB:Q8TBE0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromo adjacent homology domain-containing 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBE0-1", "PR:Q8TBE0-1", "ENSEMBL:ENSP00000396976", "ENSEMBL:ENSP00000396976.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDF8-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "terminal nucleotidyltransferase 4B isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDF8-5", "PR:Q8NDF8-5", "ENSEMBL:ENSP00000396995", "ENSEMBL:ENSP00000396995.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13002-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor ionotropic, kainate 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13002-1", "PR:Q13002-1", "ENSEMBL:ENSP00000358130", "ENSEMBL:ENSP00000358130.6", "ENSEMBL:ENSP00000397026", "ENSEMBL:ENSP00000397026.1", "ENSEMBL:ENSP00000507424", "ENSEMBL:ENSP00000507424.1", "ENSEMBL:ENSP00000508130", "ENSEMBL:ENSP00000508130.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N819-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable protein phosphatase 1N isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N819-1", "PR:Q8N819-1", "ENSEMBL:ENSP00000397050", "ENSEMBL:ENSP00000397050.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWL2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pulmonary surfactant-associated protein A1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWL2-2", "PR:Q8IWL2-2", "ENSEMBL:ENSP00000397082", "ENSEMBL:ENSP00000397082.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGI9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5'-AMP-activated protein kinase subunit gamma-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGI9-1", "PR:Q9UGI9-1", "ENSEMBL:ENSP00000397133", "ENSEMBL:ENSP00000397133.3", "ENSEMBL:ENSP00000436068", "ENSEMBL:ENSP00000436068.1"], "information_content": 100.0}
{"id": "NCBIGene:64065", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PERP", "equivalent_identifiers": ["NCBIGene:64065", "ENSEMBL:ENSG00000112378", "HGNC:17637", "OMIM:609301", "UMLS:C1425018", "UniProtKB:Q96FX8", "PR:Q96FX8", "ENSEMBL:ENSP00000397157", "ENSEMBL:ENSP00000397157.2", "UMLS:C0962273", "MESH:C416404"], "information_content": 95.4}
{"id": "NCBIGene:10904", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BLCAP", "equivalent_identifiers": ["NCBIGene:10904", "ENSEMBL:ENSG00000166619", "HGNC:1055", "OMIM:613110", "UMLS:C1412799", "UniProtKB:P62952", "PR:P62952", "ENSEMBL:ENSP00000362637", "ENSEMBL:ENSP00000362637.2", "ENSEMBL:ENSP00000380320", "ENSEMBL:ENSP00000380320.1", "ENSEMBL:ENSP00000380323", "ENSEMBL:ENSP00000380323.1", "ENSEMBL:ENSP00000380324", "ENSEMBL:ENSP00000380324.1", "ENSEMBL:ENSP00000380326", "ENSEMBL:ENSP00000380326.1", "ENSEMBL:ENSP00000397172", "ENSEMBL:ENSP00000397172.2", "ENSEMBL:ENSP00000414973", "ENSEMBL:ENSP00000414973.1", "UMLS:C1310469", "MESH:C453739"], "information_content": 92.8}
{"id": "UniProtKB:P49798-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P49798-3", "PR:P49798-3", "ENSEMBL:ENSP00000397181", "ENSEMBL:ENSP00000397181.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5XKR9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein VCF2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5XKR9-3", "PR:Q5XKR9-3", "ENSEMBL:ENSP00000397188", "ENSEMBL:ENSP00000397188.2"], "information_content": 100.0}
{"id": "MONDO:0010283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Lubs type", "equivalent_identifiers": ["MONDO:0010283", "DOID:0060799", "OMIM:300260", "orphanet:1762", "UMLS:C1846058", "MESH:C537723", "NCIT:C126747", "SNOMEDCT:702816000", "medgen:337496"], "information_content": 92.8}
{"id": "NCBIGene:390245", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KDM4E", "equivalent_identifiers": ["NCBIGene:390245", "ENSEMBL:ENSG00000235268", "HGNC:37098", "OMIM:616581", "UMLS:C3470535", "UniProtKB:B2RXH2", "PR:B2RXH2", "ENSEMBL:ENSP00000397239", "ENSEMBL:ENSP00000397239.2", "UMLS:C2934324", "MESH:C549811"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6E2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eIF5-mimic protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6E2-1", "PR:Q9Y6E2-1", "ENSEMBL:ENSP00000258761", "ENSEMBL:ENSP00000258761.3", "ENSEMBL:ENSP00000397249", "ENSEMBL:ENSP00000397249.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14CW9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ataxin-7-like protein 3 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q14CW9-2", "PR:Q14CW9-2", "ENSEMBL:ENSP00000397259", "ENSEMBL:ENSP00000397259.1"], "information_content": 100.0}
{"id": "MONDO:0020380", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant cerebellar ataxia", "equivalent_identifiers": ["MONDO:0020380", "DOID:1441", "OMIM.PS:164400", "orphanet:99", "UMLS:C0087012", "UMLS:C4087347", "MESH:D020754", "MEDDRA:10057660", "MEDDRA:10077339", "SNOMEDCT:129609000", "medgen:1684639", "HP:0007263"], "information_content": 72.5}
{"id": "UniProtKB:Q13228-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methanethiol oxidase isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q13228-4", "PR:Q13228-4", "ENSEMBL:ENSP00000397261", "ENSEMBL:ENSP00000397261.2"], "information_content": 100.0}
{"id": "NCBIGene:84908", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM136A", "equivalent_identifiers": ["NCBIGene:84908", "ENSEMBL:ENSG00000035141", "HGNC:25911", "OMIM:616275", "UMLS:C2239428", "UniProtKB:B0AZT6", "UMLS:C4077461", "MESH:C000601377", "UniProtKB:E7EQY1", "ENSEMBL:ENSP00000397269", "ENSEMBL:ENSP00000397269.1", "UniProtKB:Q96C01", "PR:Q96C01", "ENSEMBL:ENSP00000037869", "ENSEMBL:ENSP00000037869.3"]}
{"id": "UniProtKB:P20783-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurotrophin-3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P20783-2", "PR:P20783-2", "ENSEMBL:ENSP00000397297", "ENSEMBL:ENSP00000397297.2"], "information_content": 100.0}
{"id": "NCBIGene:54674", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRN3", "equivalent_identifiers": ["NCBIGene:54674", "ENSEMBL:ENSG00000173114", "HGNC:17200", "OMIM:619748", "UMLS:C1424816", "UniProtKB:A4D0T1", "UMLS:C1530487", "MESH:C494422", "UniProtKB:Q9H3W5", "PR:Q9H3W5", "ENSEMBL:ENSP00000312001", "ENSEMBL:ENSP00000312001.5", "ENSEMBL:ENSP00000397312", "ENSEMBL:ENSP00000397312.1", "ENSEMBL:ENSP00000412417", "ENSEMBL:ENSP00000412417.2", "UniProtKB:Q9NUU4"], "information_content": 100.0}
{"id": "NCBIGene:392862", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRID2IP", "equivalent_identifiers": ["NCBIGene:392862", "ENSEMBL:ENSG00000215045", "HGNC:18464", "OMIM:610639", "UMLS:C1539616", "UniProtKB:A4D2P6", "PR:A4D2P6", "ENSEMBL:ENSP00000397351", "ENSEMBL:ENSP00000397351.2", "UMLS:C1433760", "MESH:C480563", "UniProtKB:C9J5F6", "PR:C9J5F6", "ENSEMBL:ENSP00000397887", "ENSEMBL:ENSP00000397887.1"], "information_content": 90.9}
{"id": "NCBIGene:79042", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSEN34", "equivalent_identifiers": ["NCBIGene:79042", "ENSEMBL:ENSG00000170892", "HGNC:15506", "OMIM:608754", "UMLS:C1540078", "UniProtKB:A0A590UJW4", "ENSEMBL:ENSP00000499595", "ENSEMBL:ENSP00000499595.1", "UniProtKB:B4DT51", "UniProtKB:E7EQB3", "ENSEMBL:ENSP00000478203", "ENSEMBL:ENSP00000478203.1", "ENSEMBL:ENSP00000478451", "ENSEMBL:ENSP00000478451.1", "ENSEMBL:ENSP00000479105", "ENSEMBL:ENSP00000479105.1", "ENSEMBL:ENSP00000479563", "ENSEMBL:ENSP00000479563.1", "ENSEMBL:ENSP00000482737", "ENSEMBL:ENSP00000482737.1", "ENSEMBL:ENSP00000483157", "ENSEMBL:ENSP00000483157.1", "ENSEMBL:ENSP00000483220", "ENSEMBL:ENSP00000483220.1", "ENSEMBL:ENSP00000484239", "ENSEMBL:ENSP00000484239.1", "ENSEMBL:ENSP00000484555", "ENSEMBL:ENSP00000484555.1", "UniProtKB:Q9BSV6", "PR:Q9BSV6", "ENSEMBL:ENSP00000305524", "ENSEMBL:ENSP00000305524.4", "ENSEMBL:ENSP00000379667", "ENSEMBL:ENSP00000379667.1", "ENSEMBL:ENSP00000379671", "ENSEMBL:ENSP00000379671.2", "ENSEMBL:ENSP00000397402", "ENSEMBL:ENSP00000397402.4", "ENSEMBL:ENSP00000400743", "ENSEMBL:ENSP00000400743.2", "ENSEMBL:ENSP00000477766", "ENSEMBL:ENSP00000477766.1", "ENSEMBL:ENSP00000478156", "ENSEMBL:ENSP00000478156.1", "ENSEMBL:ENSP00000478622", "ENSEMBL:ENSP00000478622.1", "ENSEMBL:ENSP00000479576", "ENSEMBL:ENSP00000479576.1", "ENSEMBL:ENSP00000479654", "ENSEMBL:ENSP00000479654.1", "ENSEMBL:ENSP00000480422", "ENSEMBL:ENSP00000480422.1", "ENSEMBL:ENSP00000480503", "ENSEMBL:ENSP00000480503.1", "ENSEMBL:ENSP00000480899", "ENSEMBL:ENSP00000480899.1", "ENSEMBL:ENSP00000480964", "ENSEMBL:ENSP00000480964.1", "ENSEMBL:ENSP00000481068", "ENSEMBL:ENSP00000481068.1", "ENSEMBL:ENSP00000481374", "ENSEMBL:ENSP00000481374.1", "ENSEMBL:ENSP00000481639", "ENSEMBL:ENSP00000481639.1", "ENSEMBL:ENSP00000482084", "ENSEMBL:ENSP00000482084.1", "ENSEMBL:ENSP00000482527", "ENSEMBL:ENSP00000482527.1", "ENSEMBL:ENSP00000483266", "ENSEMBL:ENSP00000483266.1", "ENSEMBL:ENSP00000483436", "ENSEMBL:ENSP00000483436.1", "ENSEMBL:ENSP00000484225", "ENSEMBL:ENSP00000484225.1", "ENSEMBL:ENSP00000484465", "ENSEMBL:ENSP00000484465.1", "ENSEMBL:ENSP00000484694", "ENSEMBL:ENSP00000484694.1", "ENSEMBL:ENSP00000484865", "ENSEMBL:ENSP00000484865.1", "ENSEMBL:ENSP00000484964", "ENSEMBL:ENSP00000484964.1"], "information_content": 89.4}
{"id": "NCBIGene:117579", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RLN3", "equivalent_identifiers": ["NCBIGene:117579", "ENSEMBL:ENSG00000171136", "HGNC:17135", "OMIM:606855", "UMLS:C1424771", "UniProtKB:B2RU28", "UMLS:C1433390", "MESH:C480238", "UniProtKB:K7ENX1", "ENSEMBL:ENSP00000467130", "ENSEMBL:ENSP00000467130.1", "ENSEMBL:ENSP00000500774", "ENSEMBL:ENSP00000500774.1", "UniProtKB:Q8WXF3", "PR:Q8WXF3", "ENSEMBL:ENSP00000397415", "ENSEMBL:ENSP00000397415.2", "ENSEMBL:ENSP00000500641", "ENSEMBL:ENSP00000500641.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15714-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TSC22 domain family protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15714-1", "PR:Q15714-1", "ENSEMBL:ENSP00000397435", "ENSEMBL:ENSP00000397435.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2V7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "conserved oligomeric Golgi complex subunit 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2V7-1", "PR:Q9Y2V7-1", "ENSEMBL:ENSP00000397441", "ENSEMBL:ENSP00000397441.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRW4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein phosphatase 22 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRW4-2", "PR:Q9NRW4-2", "ENSEMBL:ENSP00000397459", "ENSEMBL:ENSP00000397459.2"], "information_content": 100.0}
{"id": "MONDO:0019474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hepatosplenic T-cell lymphoma", "equivalent_identifiers": ["MONDO:0019474", "DOID:0081049", "orphanet:86882", "UMLS:C1333984", "MEDDRA:10066957", "MEDDRA:10076434", "NCIT:C8459", "SNOMEDCT:445406001", "medgen:272711", "icd11.foundation:1301206942"], "information_content": 92.8}
{"id": "MONDO:0003659", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pediatric lymphoma", "equivalent_identifiers": ["MONDO:0003659", "DOID:5823", "UMLS:C1332979", "NCIT:C5165", "medgen:232062"], "information_content": 68.3}
{"id": "UniProtKB:O96019-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin-like protein 6A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O96019-1", "PR:O96019-1", "ENSEMBL:ENSP00000397552", "ENSEMBL:ENSP00000397552.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6PIY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly(A) RNA polymerase GLD2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PIY7-1", "PR:Q6PIY7-1", "ENSEMBL:ENSP00000296783", "ENSEMBL:ENSP00000296783.3", "ENSEMBL:ENSP00000397563", "ENSEMBL:ENSP00000397563.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHL9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription factor II-I repeat domain-containing protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHL9-3", "PR:Q9UHL9-3", "ENSEMBL:ENSP00000397566", "ENSEMBL:ENSP00000397566.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBH2-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kyphoscoliosis peptidase isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBH2-4", "PR:Q8NBH2-4", "ENSEMBL:ENSP00000397598", "ENSEMBL:ENSP00000397598.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96BT7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BT7-1", "PR:Q96BT7-1", "ENSEMBL:ENSP00000374219", "ENSEMBL:ENSP00000374219.3", "ENSEMBL:ENSP00000397673", "ENSEMBL:ENSP00000397673.3", "ENSEMBL:ENSP00000415885", "ENSEMBL:ENSP00000415885.2"], "information_content": 100.0}
{"id": "UniProtKB:P21128-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uridylate-specific endoribonuclease isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P21128-1", "PR:P21128-1", "ENSEMBL:ENSP00000397679", "ENSEMBL:ENSP00000397679.3"], "information_content": 100.0}
{"id": "UniProtKB:P17035-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 28 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P17035-1", "PR:P17035-1", "ENSEMBL:ENSP00000397693", "ENSEMBL:ENSP00000397693.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMJ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-34 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMJ4-1", "PR:Q6ZMJ4-1", "ENSEMBL:ENSP00000288098", "ENSEMBL:ENSP00000288098.2", "ENSEMBL:ENSP00000397863", "ENSEMBL:ENSP00000397863.2"], "information_content": 100.0}
{"id": "NCBIGene:100303755", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PET117", "equivalent_identifiers": ["NCBIGene:100303755", "ENSEMBL:ENSG00000232838", "HGNC:40045", "OMIM:614771", "UMLS:C3471365", "UniProtKB:L0R6F6", "UniProtKB:Q6UWS5", "PR:Q6UWS5", "ENSEMBL:ENSP00000397881", "ENSEMBL:ENSP00000397881.2"], "information_content": 100.0}
{"id": "MONDO:0011006", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 9A", "equivalent_identifiers": ["MONDO:0011006", "DOID:0110824", "OMIM:601162", "orphanet:447753", "UMLS:C5568978", "MESH:C536868", "SNOMEDCT:1187465008", "medgen:1800401"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYG7-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein maestro isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYG7-5", "PR:Q9BYG7-5", "ENSEMBL:ENSP00000397900", "ENSEMBL:ENSP00000397900.1"], "information_content": 100.0}
{"id": "MONDO:0003077", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intraocular retinoblastoma", "equivalent_identifiers": ["MONDO:0003077", "DOID:4653", "UMLS:C0278717", "MEDDRA:10022810", "NCIT:C7846", "medgen:78874"], "information_content": 95.4}
{"id": "UniProtKB:Q14693-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidate phosphatase LPIN1 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q14693-7", "PR:Q14693-7", "ENSEMBL:ENSP00000397908", "ENSEMBL:ENSP00000397908.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H930-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear body protein SP140-like protein isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9H930-4", "PR:Q9H930-4", "ENSEMBL:ENSP00000397911", "ENSEMBL:ENSP00000397911.2"], "information_content": 100.0}
{"id": "UniProtKB:O75185-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-transporting ATPase type 2C member 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O75185-3", "PR:O75185-3", "ENSEMBL:ENSP00000397925", "ENSEMBL:ENSP00000397925.2"], "information_content": 100.0}
{"id": "NCBIGene:84271", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLDIP3", "equivalent_identifiers": ["NCBIGene:84271", "ENSEMBL:ENSG00000100227", "HGNC:23782", "OMIM:611520", "UMLS:C1428255", "UniProtKB:B4E0L0", "UMLS:C1531254", "MESH:C495327", "UniProtKB:F6VRR5", "ENSEMBL:ENSP00000397927", "ENSEMBL:ENSP00000397927.3", "UniProtKB:Q9BY77", "PR:Q9BY77"]}
{"id": "UniProtKB:Q96JA3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family A member 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JA3-1", "PR:Q96JA3-1", "ENSEMBL:ENSP00000397947", "ENSEMBL:ENSP00000397947.1", "ENSEMBL:ENSP00000407802", "ENSEMBL:ENSP00000407802.2"], "information_content": 100.0}
{"id": "NCBIGene:9080", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN9", "equivalent_identifiers": ["NCBIGene:9080", "ENSEMBL:ENSG00000213937", "HGNC:2051", "OMIM:615799", "UMLS:C1413479", "UniProtKB:O95484", "PR:O95484", "ENSEMBL:ENSP00000398017", "ENSEMBL:ENSP00000398017.2", "UMLS:C1999281", "MESH:C524757"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y241-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "HIG1 domain family member 1A, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y241-2", "PR:Q9Y241-2", "ENSEMBL:ENSP00000398064", "ENSEMBL:ENSP00000398064.2"], "information_content": 100.0}
{"id": "UniProtKB:O43861-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable phospholipid-transporting ATPase IIB isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43861-1", "PR:O43861-1", "ENSEMBL:ENSP00000398076", "ENSEMBL:ENSP00000398076.2"], "information_content": 100.0}
{"id": "UniProtKB:O75541-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 821 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75541-1", "PR:O75541-1", "ENSEMBL:ENSP00000398089", "ENSEMBL:ENSP00000398089.1", "ENSEMBL:ENSP00000455648", "ENSEMBL:ENSP00000455648.1"], "information_content": 100.0}
{"id": "MONDO:0010160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tyrosinemia type II", "equivalent_identifiers": ["MONDO:0010160", "DOID:0050725", "OMIM:276600", "orphanet:28378", "UMLS:C0268487", "MEDDRA:10069460", "MEDDRA:10069463", "NCIT:C129032", "SNOMEDCT:124287008", "SNOMEDCT:4887000", "medgen:75687", "icd11.foundation:1900229795"], "information_content": 100.0}
{"id": "NCBIGene:58486", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBED5", "equivalent_identifiers": ["NCBIGene:58486", "ENSEMBL:ENSG00000236287", "HGNC:30803", "OMIM:615251", "UMLS:C1823900", "UniProtKB:Q49AG3", "PR:Q49AG3", "ENSEMBL:ENSP00000398106", "ENSEMBL:ENSP00000398106.2", "ENSEMBL:ENSP00000415939", "ENSEMBL:ENSP00000415939.2"], "information_content": 90.9}
{"id": "UniProtKB:Q15329-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor E2F5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15329-1", "PR:Q15329-1", "ENSEMBL:ENSP00000398124", "ENSEMBL:ENSP00000398124.2"], "information_content": 100.0}
{"id": "UniProtKB:P15170-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P15170-3", "PR:P15170-3", "ENSEMBL:ENSP00000398131", "ENSEMBL:ENSP00000398131.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6NS38-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA oxidative demethylase ALKBH2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NS38-1", "PR:Q6NS38-1", "ENSEMBL:ENSP00000343021", "ENSEMBL:ENSP00000343021.3", "ENSEMBL:ENSP00000398181", "ENSEMBL:ENSP00000398181.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDW8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tetratricopeptide repeat protein 21A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDW8-1", "PR:Q8NDW8-1", "ENSEMBL:ENSP00000398211", "ENSEMBL:ENSP00000398211.2"], "information_content": 100.0}
{"id": "UniProtKB:P35711-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor SOX-5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35711-1", "PR:P35711-1", "ENSEMBL:ENSP00000398273", "ENSEMBL:ENSP00000398273.2"], "information_content": 100.0}
{"id": "UniProtKB:P42702-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukemia inhibitory factor receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P42702-1", "PR:P42702-1", "ENSEMBL:ENSP00000263409", "ENSEMBL:ENSP00000263409.4", "ENSEMBL:ENSP00000398368", "ENSEMBL:ENSP00000398368.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5BKY9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM133B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5BKY9-1", "PR:Q5BKY9-1", "ENSEMBL:ENSP00000398401", "ENSEMBL:ENSP00000398401.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N371-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional peptidase and arginyl-hydroxylase JMJD5 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N371-3", "PR:Q8N371-3", "ENSEMBL:ENSP00000398410", "ENSEMBL:ENSP00000398410.2"], "information_content": 100.0}
{"id": "NCBIGene:643699", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOLGA8N", "equivalent_identifiers": ["NCBIGene:643699", "ENSEMBL:ENSG00000232653", "HGNC:44405", "UMLS:C3539385", "UniProtKB:F8WBI6", "PR:F8WBI6", "ENSEMBL:ENSP00000398454", "ENSEMBL:ENSP00000398454.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86UW7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-dependent secretion activator 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UW7-1", "PR:Q86UW7-1", "ENSEMBL:ENSP00000398481", "ENSEMBL:ENSP00000398481.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96G04-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-lysine N-methyltransferase EEF2KMT isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96G04-1", "PR:Q96G04-1", "ENSEMBL:ENSP00000398502", "ENSEMBL:ENSP00000398502.3"], "information_content": 100.0}
{"id": "UniProtKB:Q13137-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-binding and coiled-coil domain-containing protein 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q13137-4", "PR:Q13137-4", "ENSEMBL:ENSP00000398523", "ENSEMBL:ENSP00000398523.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96N96-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis-associated protein 13 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q96N96-6", "PR:Q96N96-6", "ENSEMBL:ENSP00000371542", "ENSEMBL:ENSP00000371542.3", "ENSEMBL:ENSP00000398560", "ENSEMBL:ENSP00000398560.2"], "information_content": 100.0}
{"id": "NCBIGene:5551", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRF1", "equivalent_identifiers": ["NCBIGene:5551", "ENSEMBL:ENSG00000180644", "HGNC:9360", "OMIM:170280", "UMLS:C1418887", "UniProtKB:P14222", "PR:P14222", "ENSEMBL:ENSP00000362305", "ENSEMBL:ENSP00000362305.1", "ENSEMBL:ENSP00000398568", "ENSEMBL:ENSP00000398568.1", "UMLS:C1622765", "MESH:C510468"], "information_content": 95.4}
{"id": "UniProtKB:Q96BW9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidate cytidylyltransferase, mitochondrial isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96BW9-3", "PR:Q96BW9-3", "ENSEMBL:ENSP00000398596", "ENSEMBL:ENSP00000398596.1"], "information_content": 100.0}
{"id": "NCBIGene:118460", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXOSC6", "equivalent_identifiers": ["NCBIGene:118460", "ENSEMBL:ENSG00000223496", "HGNC:19055", "OMIM:606490", "UMLS:C1425980", "UniProtKB:Q5RKV6", "PR:Q5RKV6", "ENSEMBL:ENSP00000398597", "ENSEMBL:ENSP00000398597.1", "UMLS:C3491609", "MESH:C571497"], "information_content": 100.0}
{"id": "UniProtKB:P50995-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "annexin A11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P50995-1", "PR:P50995-1", "ENSEMBL:ENSP00000361305", "ENSEMBL:ENSP00000361305.3", "ENSEMBL:ENSP00000398610", "ENSEMBL:ENSP00000398610.1", "ENSEMBL:ENSP00000404412", "ENSEMBL:ENSP00000404412.2"], "information_content": 100.0}
{"id": "MONDO:0003446", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papillary hidradenoma", "equivalent_identifiers": ["MONDO:0003446", "DOID:5439", "UMLS:C0334348", "UMLS:C4505170", "MESH:D000074009", "MEDDRA:10020042", "NCIT:C4171", "SNOMEDCT:307597000", "SNOMEDCT:89791006", "medgen:87221"], "information_content": 92.8}
{"id": "NCBIGene:284418", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GARIN5B", "equivalent_identifiers": ["NCBIGene:284418", "ENSEMBL:ENSG00000180043", "HGNC:25278", "OMIM:621103", "UMLS:C1428467", "UniProtKB:Q8N5Q1", "PR:Q8N5Q1", "ENSEMBL:ENSP00000398617", "ENSEMBL:ENSP00000398617.1"], "information_content": 95.4}
{"id": "NCBIGene:100131902", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP25-1", "equivalent_identifiers": ["NCBIGene:100131902", "ENSEMBL:ENSG00000232263", "HGNC:34003", "UMLS:C2239643", "UniProtKB:Q3LHN0", "PR:Q3LHN0", "ENSEMBL:ENSP00000398619", "ENSEMBL:ENSP00000398619.1", "UMLS:C2606192", "MESH:C533805"], "information_content": 100.0}
{"id": "NCBIGene:2786", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNG4", "equivalent_identifiers": ["NCBIGene:2786", "ENSEMBL:ENSG00000168243", "HGNC:4407", "OMIM:604388", "UMLS:C1415157", "UniProtKB:B1APZ0", "UniProtKB:P50150", "PR:P50150", "ENSEMBL:ENSP00000355556", "ENSEMBL:ENSP00000355556.1", "ENSEMBL:ENSP00000355557", "ENSEMBL:ENSP00000355557.4", "ENSEMBL:ENSP00000375727", "ENSEMBL:ENSP00000375727.2", "ENSEMBL:ENSP00000398629", "ENSEMBL:ENSP00000398629.1", "ENSEMBL:ENSP00000482192", "ENSEMBL:ENSP00000482192.1"], "information_content": 95.4}
{"id": "UniProtKB:P16070-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD44 antigen isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P16070-1", "PR:P16070-1", "ENSEMBL:ENSP00000398632", "ENSEMBL:ENSP00000398632.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5H913-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor-like protein 13A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5H913-2", "PR:Q5H913-2", "ENSEMBL:ENSP00000398637", "ENSEMBL:ENSP00000398637.2"], "information_content": 100.0}
{"id": "NCBIGene:3702", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITK", "equivalent_identifiers": ["NCBIGene:3702", "ENSEMBL:ENSG00000113263", "HGNC:6171", "OMIM:186973", "UMLS:C1367389", "UniProtKB:Q08881", "PR:Q08881", "ENSEMBL:ENSP00000398655", "ENSEMBL:ENSP00000398655.4", "UMLS:C1567665"], "information_content": 88.2}
{"id": "NCBIGene:7124", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNF", "equivalent_identifiers": ["NCBIGene:7124", "ENSEMBL:ENSG00000232810", "HGNC:11892", "OMIM:191160", "UMLS:C0812246", "UniProtKB:P01375", "PR:P01375", "ENSEMBL:ENSP00000365290", "ENSEMBL:ENSP00000365290.3", "ENSEMBL:ENSP00000372988", "ENSEMBL:ENSP00000372988.4", "ENSEMBL:ENSP00000389490", "ENSEMBL:ENSP00000389490.2", "ENSEMBL:ENSP00000389492", "ENSEMBL:ENSP00000389492.2", "ENSEMBL:ENSP00000392858", "ENSEMBL:ENSP00000392858.2", "ENSEMBL:ENSP00000398698", "ENSEMBL:ENSP00000398698.2", "ENSEMBL:ENSP00000410668", "ENSEMBL:ENSP00000410668.2", "UMLS:C1448177", "MESH:C439524", "UniProtKB:Q5STB3"], "information_content": 85.5}
{"id": "UniProtKB:Q9BWS9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chitinase domain-containing protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWS9-2", "PR:Q9BWS9-2", "ENSEMBL:ENSP00000398722", "ENSEMBL:ENSP00000398722.2", "ENSEMBL:ENSP00000435503", "ENSEMBL:ENSP00000435503.1"], "information_content": 100.0}
{"id": "NCBIGene:339804", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C2orf74", "equivalent_identifiers": ["NCBIGene:339804", "ENSEMBL:ENSG00000237651", "HGNC:34439", "UMLS:C2681200", "UniProtKB:A8MZ97", "PR:A8MZ97", "ENSEMBL:ENSP00000402915", "ENSEMBL:ENSP00000402915.2", "UniProtKB:C9JBF1", "ENSEMBL:ENSP00000398725", "ENSEMBL:ENSP00000398725.1", "ENSEMBL:ENSP00000482798", "ENSEMBL:ENSP00000482798.1"]}
{"id": "NCBIGene:3491", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCN1", "equivalent_identifiers": ["NCBIGene:3491", "ENSEMBL:ENSG00000142871", "HGNC:2654", "OMIM:602369", "UMLS:C1413896", "UniProtKB:O00622", "PR:O00622", "ENSEMBL:ENSP00000398736", "ENSEMBL:ENSP00000398736.2", "UMLS:C1137456", "MESH:C501848", "UniProtKB:Q6FI18"], "information_content": 88.2}
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{"id": "UniProtKB:Q9NYV4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYV4-1", "PR:Q9NYV4-1", "ENSEMBL:ENSP00000398880", "ENSEMBL:ENSP00000398880.4"], "information_content": 100.0}
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{"id": "NCBIGene:129684", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNTNAP5", "equivalent_identifiers": ["NCBIGene:129684", "ENSEMBL:ENSG00000155052", "HGNC:18748", "OMIM:610519", "UMLS:C1539119", "UniProtKB:A0A804HKY0", "ENSEMBL:ENSP00000508115", "ENSEMBL:ENSP00000508115.1", "UniProtKB:Q8WYK1", "PR:Q8WYK1", "ENSEMBL:ENSP00000399013", "ENSEMBL:ENSP00000399013.1", "UMLS:C1741907", "MESH:C513597"], "information_content": 100.0}
{"id": "NCBIGene:6539", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC6A12", "equivalent_identifiers": ["NCBIGene:6539", "ENSEMBL:ENSG00000111181", "HGNC:11045", "OMIM:603080", "UMLS:C1420209", "UniProtKB:P48065", "PR:P48065", "ENSEMBL:ENSP00000352702", "ENSEMBL:ENSP00000352702.4", "ENSEMBL:ENSP00000380464", "ENSEMBL:ENSP00000380464.2", "ENSEMBL:ENSP00000399136", "ENSEMBL:ENSP00000399136.2", "ENSEMBL:ENSP00000444268", "ENSEMBL:ENSP00000444268.1", "ENSEMBL:ENSP00000508194", "ENSEMBL:ENSP00000508194.1", "UMLS:C1670080"], "information_content": 100.0}
{"id": "NCBIGene:3106", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLA-B", "equivalent_identifiers": ["NCBIGene:3106", "ENSEMBL:ENSG00000234745", "HGNC:4932", "OMIM:142830", "UMLS:C1415561", "UniProtKB:D9J307", "ENSEMBL:ENSP00000388208", "ENSEMBL:ENSP00000388208.2", "UniProtKB:E5FQ95", "UMLS:C2974537", "MESH:C090660", "UniProtKB:P01889", "PR:P01889", "ENSEMBL:ENSP00000399168", "ENSEMBL:ENSP00000399168.2", "ENSEMBL:ENSP00000512717", "ENSEMBL:ENSP00000512717.1", "ENSEMBL:ENSP00000512718", "ENSEMBL:ENSP00000512718.1", "ENSEMBL:ENSP00000512719", "ENSEMBL:ENSP00000512719.1", "ENSEMBL:ENSP00000512720", "ENSEMBL:ENSP00000512720.1", "UMLS:C0062845", "UMLS:C1881020", "UMLS:C3178888", "UMLS:C5419224", "UMLS:C5419225", "MESH:C038652"], "information_content": 73.1}
{"id": "UniProtKB:Q9BRK3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "matrix remodeling-associated protein 8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRK3-2", "PR:Q9BRK3-2", "ENSEMBL:ENSP00000399229", "ENSEMBL:ENSP00000399229.2"], "information_content": 100.0}
{"id": "MONDO:0000344", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ross river fever", "equivalent_identifiers": ["MONDO:0000344", "DOID:0050518", "UMLS:C0919833", "MESH:D000096745", "MEDDRA:10050931", "MEDDRA:10066922", "SNOMEDCT:602001", "SNOMEDCT:789400009", "medgen:1673033"], "information_content": 100.0}
{"id": "UniProtKB:Q86WN1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-BAR and double SH3 domains protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WN1-1", "PR:Q86WN1-1", "ENSEMBL:ENSP00000399259", "ENSEMBL:ENSP00000399259.2"], "information_content": 100.0}
{"id": "MONDO:0002505", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood astrocytic tumor", "equivalent_identifiers": ["MONDO:0002505", "DOID:3079", "UMLS:C1321865", "NCIT:C9022", "medgen:272112"], "information_content": 74.1}
{"id": "MONDO:0850110", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "melanoma in congenital melanocytic nevus", "equivalent_identifiers": ["MONDO:0850110", "DOID:0070327", "UMLS:C1711221", "NCIT:C48613", "medgen:313976"], "information_content": 95.4}
{"id": "NCBIGene:8823", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGF16", "equivalent_identifiers": ["NCBIGene:8823", "ENSEMBL:ENSG00000196468", "HGNC:3672", "OMIM:300827", "UMLS:C1414600", "UniProtKB:O43320", "PR:O43320", "ENSEMBL:ENSP00000399324", "ENSEMBL:ENSP00000399324.2"], "information_content": 95.4}
{"id": "UniProtKB:P04156-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "major prion protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P04156-1", "PR:P04156-1", "ENSEMBL:ENSP00000368752", "ENSEMBL:ENSP00000368752.4", "ENSEMBL:ENSP00000399376", "ENSEMBL:ENSP00000399376.2", "ENSEMBL:ENSP00000411599", "ENSEMBL:ENSP00000411599.2", "ENSEMBL:ENSP00000415284", "ENSEMBL:ENSP00000415284.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5BVD1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TPA-induced transmembrane protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5BVD1-3", "PR:Q5BVD1-3", "ENSEMBL:ENSP00000399392", "ENSEMBL:ENSP00000399392.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0B6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin light chain 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0B6-1", "PR:Q9H0B6-1", "ENSEMBL:ENSP00000314837", "ENSEMBL:ENSP00000314837.5", "ENSEMBL:ENSP00000377631", "ENSEMBL:ENSP00000377631.2", "ENSEMBL:ENSP00000399403", "ENSEMBL:ENSP00000399403.1"], "information_content": 100.0}
{"id": "NCBIGene:883", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KYAT1", "equivalent_identifiers": ["NCBIGene:883", "ENSEMBL:ENSG00000171097", "HGNC:1564", "OMIM:600547", "UMLS:C1413165", "UniProtKB:A0A494C066", "ENSEMBL:ENSP00000498386", "ENSEMBL:ENSP00000498386.1", "UniProtKB:A8K563", "UniProtKB:B7Z4W5", "ENSEMBL:ENSP00000399415", "ENSEMBL:ENSP00000399415.2", "UniProtKB:Q16773", "PR:Q16773"]}
{"id": "NCBIGene:100130733", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC70", "equivalent_identifiers": ["NCBIGene:100130733", "ENSEMBL:ENSG00000186105", "HGNC:35155", "UMLS:C2700611", "UniProtKB:Q7Z2Q7", "PR:Q7Z2Q7", "ENSEMBL:ENSP00000399441", "ENSEMBL:ENSP00000399441.1"], "information_content": 95.4}
{"id": "MONDO:0000704", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lymphocytic colitis", "equivalent_identifiers": ["MONDO:0000704", "DOID:0060184", "EFO:1001294", "UMLS:C0400822", "MESH:D046730", "MEDDRA:10025268", "NCIT:C27147", "SNOMEDCT:1187071008", "SNOMEDCT:31437008", "medgen:98006", "icd11.foundation:1629251056", "ICD10:K52.832"], "information_content": 95.4}
{"id": "UniProtKB:P39656-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P39656-1", "PR:P39656-1", "ENSEMBL:ENSP00000399457", "ENSEMBL:ENSP00000399457.3"], "information_content": 100.0}
{"id": "UniProtKB:P17544-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic AMP-dependent transcription factor ATF-7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P17544-6", "PR:P17544-6", "ENSEMBL:ENSP00000387406", "ENSEMBL:ENSP00000387406.3", "ENSEMBL:ENSP00000399465", "ENSEMBL:ENSP00000399465.1"], "information_content": 100.0}
{"id": "UniProtKB:O94772-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphocyte antigen 6H isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O94772-2", "PR:O94772-2", "ENSEMBL:ENSP00000342711", "ENSEMBL:ENSP00000342711.4", "ENSEMBL:ENSP00000399485", "ENSEMBL:ENSP00000399485.2", "ENSEMBL:ENSP00000482094", "ENSEMBL:ENSP00000482094.2", "ENSEMBL:ENSP00000487965", "ENSEMBL:ENSP00000487965.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TRAF2 and NCK-interacting protein kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKE5-1", "PR:Q9UKE5-1", "ENSEMBL:ENSP00000399511", "ENSEMBL:ENSP00000399511.2"], "information_content": 100.0}
{"id": "MONDO:0010171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1C", "equivalent_identifiers": ["MONDO:0010171", "DOID:0110830", "OMIM:276904", "UMLS:C1848604", "MESH:C564753", "medgen:338506"], "information_content": 100.0}
{"id": "UniProtKB:Q01826-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-binding protein SATB1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q01826-2", "PR:Q01826-2", "ENSEMBL:ENSP00000399518", "ENSEMBL:ENSP00000399518.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HD23-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "magnesium transporter MRS2 homolog, mitochondrial isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9HD23-4", "PR:Q9HD23-4", "ENSEMBL:ENSP00000399585", "ENSEMBL:ENSP00000399585.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWW8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GRB2-associated-binding protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWW8-2", "PR:Q8WWW8-2", "ENSEMBL:ENSP00000399588", "ENSEMBL:ENSP00000399588.2"], "information_content": 100.0}
{"id": "UniProtKB:Q92954-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteoglycan 4 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q92954-1", "PR:Q92954-1", "ENSEMBL:ENSP00000399679", "ENSEMBL:ENSP00000399679.3"], "information_content": 100.0}
{"id": "NCBIGene:51316", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLAC8", "equivalent_identifiers": ["NCBIGene:51316", "ENSEMBL:ENSG00000145287", "HGNC:19254", "OMIM:607515", "UMLS:C1426119", "UniProtKB:Q9NZF1", "PR:Q9NZF1", "ENSEMBL:ENSP00000309509", "ENSEMBL:ENSP00000309509.4", "ENSEMBL:ENSP00000399700", "ENSEMBL:ENSP00000399700.2", "ENSEMBL:ENSP00000412230", "ENSEMBL:ENSP00000412230.2", "ENSEMBL:ENSP00000422526", "ENSEMBL:ENSP00000422526.1", "ENSEMBL:ENSP00000520757", "ENSEMBL:ENSP00000520757.1", "ENSEMBL:ENSP00000520758", "ENSEMBL:ENSP00000520758.1", "ENSEMBL:ENSP00000520763", "ENSEMBL:ENSP00000520763.1", "ENSEMBL:ENSP00000520767", "ENSEMBL:ENSP00000520767.1", "ENSEMBL:ENSP00000520775", "ENSEMBL:ENSP00000520775.1", "ENSEMBL:ENSP00000520776", "ENSEMBL:ENSP00000520776.1", "ENSEMBL:ENSP00000520777", "ENSEMBL:ENSP00000520777.1", "UMLS:C1687159", "UMLS:C2983545", "MESH:C506004", "UniProtKB:X2BQ60"], "information_content": 95.4}
{"id": "UniProtKB:O76090-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bestrophin-1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O76090-3", "PR:O76090-3", "ENSEMBL:ENSP00000399709", "ENSEMBL:ENSP00000399709.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NS73-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAP3K12-binding inhibitory protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NS73-1", "PR:Q9NS73-1", "ENSEMBL:ENSP00000399718", "ENSEMBL:ENSP00000399718.2"], "information_content": 100.0}
{"id": "NCBIGene:1129", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHRM2", "equivalent_identifiers": ["NCBIGene:1129", "ENSEMBL:ENSG00000181072", "HGNC:1951", "OMIM:118493", "UMLS:C1413400", "UniProtKB:A4D1Q0", "UMLS:C1452674", "MESH:C487078", "UniProtKB:P08172", "PR:P08172", "ENSEMBL:ENSP00000319984", "ENSEMBL:ENSP00000319984.5", "ENSEMBL:ENSP00000384401", "ENSEMBL:ENSP00000384401.1", "ENSEMBL:ENSP00000399745", "ENSEMBL:ENSP00000399745.2", "ENSEMBL:ENSP00000415386", "ENSEMBL:ENSP00000415386.1", "ENSEMBL:ENSP00000505686", "ENSEMBL:ENSP00000505686.1", "UniProtKB:Q6SL56", "UniProtKB:Q6SL59", "UniProtKB:Q86SJ1"], "information_content": 95.4}
{"id": "UniProtKB:Q96II8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DISP complex protein LRCH3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96II8-2", "PR:Q96II8-2", "ENSEMBL:ENSP00000394763", "ENSEMBL:ENSP00000394763.2", "ENSEMBL:ENSP00000399751", "ENSEMBL:ENSP00000399751.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCE1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "helicase MOV-10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCE1-1", "PR:Q9HCE1-1", "ENSEMBL:ENSP00000350028", "ENSEMBL:ENSP00000350028.2", "ENSEMBL:ENSP00000358659", "ENSEMBL:ENSP00000358659.1", "ENSEMBL:ENSP00000399797", "ENSEMBL:ENSP00000399797.2"], "information_content": 100.0}
{"id": "UniProtKB:Q08257-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "quinone oxidoreductase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q08257-1", "PR:Q08257-1", "ENSEMBL:ENSP00000339399", "ENSEMBL:ENSP00000339399.5", "ENSEMBL:ENSP00000399805", "ENSEMBL:ENSP00000399805.1"], "information_content": 100.0}
{"id": "NCBIGene:3221", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXC4", "equivalent_identifiers": ["NCBIGene:3221", "ENSEMBL:ENSG00000198353", "HGNC:5126", "OMIM:142974", "UMLS:C1415678", "UniProtKB:P09017", "PR:P09017", "ENSEMBL:ENSP00000305973", "ENSEMBL:ENSP00000305973.4", "ENSEMBL:ENSP00000399808", "ENSEMBL:ENSP00000399808.2", "UMLS:C1447433", "MESH:C098691", "UniProtKB:Q86TF7"], "information_content": 92.8}
{"id": "NCBIGene:5428", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLG", "equivalent_identifiers": ["NCBIGene:5428", "ENSEMBL:ENSG00000140521", "HGNC:9179", "OMIM:174763", "UMLS:C1418731", "UniProtKB:E5KNU5", "UniProtKB:P54098", "PR:P54098", "ENSEMBL:ENSP00000268124", "ENSEMBL:ENSP00000268124.5", "ENSEMBL:ENSP00000399851", "ENSEMBL:ENSP00000399851.2", "ENSEMBL:ENSP00000516154", "ENSEMBL:ENSP00000516154.1", "UMLS:C1447764", "MESH:C413027"], "information_content": 92.8}
{"id": "UniProtKB:Q9H9A5-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCR4-NOT transcription complex subunit 10 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9A5-6", "PR:Q9H9A5-6", "ENSEMBL:ENSP00000399862", "ENSEMBL:ENSP00000399862.2", "ENSEMBL:ENSP00000516967", "ENSEMBL:ENSP00000516967.1"], "information_content": 100.0}
{"id": "UniProtKB:P17096-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "high mobility group protein HMG-I/HMG-Y isoform HMG-I (human)", "equivalent_identifiers": ["UniProtKB:P17096-1", "PR:P17096-1", "ENSEMBL:ENSP00000308227", "ENSEMBL:ENSP00000308227.4", "ENSEMBL:ENSP00000399888", "ENSEMBL:ENSP00000399888.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZS30-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurobeachin-like protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZS30-2", "PR:Q6ZS30-2", "ENSEMBL:ENSP00000399903", "ENSEMBL:ENSP00000399903.1"], "information_content": 100.0}
{"id": "NCBIGene:10499", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCOA2", "equivalent_identifiers": ["NCBIGene:10499", "ENSEMBL:ENSG00000140396", "HGNC:7669", "OMIM:601993", "UMLS:C1334867", "UniProtKB:B4DPW8", "UniProtKB:Q15596", "PR:Q15596", "ENSEMBL:ENSP00000399968", "ENSEMBL:ENSP00000399968.2", "UMLS:C1411929", "MESH:C498001"], "information_content": 90.9}
{"id": "NCBIGene:55844", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP2R2D", "equivalent_identifiers": ["NCBIGene:55844", "ENSEMBL:ENSG00000175470", "HGNC:23732", "OMIM:613992", "UMLS:C1428233", "UniProtKB:Q66LE6", "PR:Q66LE6", "ENSEMBL:ENSP00000399970", "ENSEMBL:ENSP00000399970.2", "UMLS:C2000633", "MESH:C525687", "UniProtKB:Q6IN90"], "information_content": 95.4}
{"id": "UniProtKB:Q9NWF4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 52, riboflavin transporter, member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWF4-1", "PR:Q9NWF4-1", "ENSEMBL:ENSP00000254853", "ENSEMBL:ENSP00000254853.5", "ENSEMBL:ENSP00000399979", "ENSEMBL:ENSP00000399979.1"], "information_content": 100.0}
{"id": "UniProtKB:P49848-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription initiation factor TFIID subunit 6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P49848-3", "PR:P49848-3", "ENSEMBL:ENSP00000399982", "ENSEMBL:ENSP00000399982.2"], "information_content": 100.0}
{"id": "MONDO:0012547", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 4", "equivalent_identifiers": ["MONDO:0012547", "DOID:0060582", "OMIM:610733", "UMLS:C1853120", "MESH:C548082", "NCIT:C176932", "medgen:339908"], "information_content": 100.0}
{"id": "UniProtKB:Q12913-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase eta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q12913-1", "PR:Q12913-1", "ENSEMBL:ENSP00000400010", "ENSEMBL:ENSP00000400010.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7L266-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "isoaspartyl peptidase/L-asparaginase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L266-1", "PR:Q7L266-1", "ENSEMBL:ENSP00000301776", "ENSEMBL:ENSP00000301776.5", "ENSEMBL:ENSP00000400057", "ENSEMBL:ENSP00000400057.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZS17-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho family-interacting cell polarization regulator 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZS17-4", "PR:Q6ZS17-4", "ENSEMBL:ENSP00000400099", "ENSEMBL:ENSP00000400099.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJS0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJS0-2", "PR:Q9UJS0-2", "ENSEMBL:ENSP00000400101", "ENSEMBL:ENSP00000400101.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUH4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyltransferase ZDHHC13 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUH4-1", "PR:Q8IUH4-1", "ENSEMBL:ENSP00000400113", "ENSEMBL:ENSP00000400113.2"], "information_content": 100.0}
{"id": "UniProtKB:Q01844-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein EWS isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q01844-5", "PR:Q01844-5", "ENSEMBL:ENSP00000400142", "ENSEMBL:ENSP00000400142.2"], "information_content": 100.0}
{"id": "NCBIGene:100526740", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP5MF-PTCD1", "equivalent_identifiers": ["NCBIGene:100526740", "ENSEMBL:ENSG00000248919", "HGNC:38844", "UMLS:C4554715", "UniProtKB:B4DJ38", "UniProtKB:G3V325", "ENSEMBL:ENSP00000400168", "ENSEMBL:ENSP00000400168.1"]}
{"id": "NCBIGene:387", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RHOA", "equivalent_identifiers": ["NCBIGene:387", "ENSEMBL:ENSG00000067560", "HGNC:667", "OMIM:165390", "UMLS:C0812234", "UniProtKB:A0A024R324", "UniProtKB:A0A7I2YQV1", "ENSEMBL:ENSP00000504603", "ENSEMBL:ENSP00000504603.1", "UniProtKB:B4DKN9", "UniProtKB:C9JRM1", "ENSEMBL:ENSP00000394483", "ENSEMBL:ENSP00000394483.2", "UniProtKB:C9JX21", "ENSEMBL:ENSP00000413587", "ENSEMBL:ENSP00000413587.1", "UniProtKB:P61586", "PR:P61586", "ENSEMBL:ENSP00000400175", "ENSEMBL:ENSP00000400175.1", "ENSEMBL:ENSP00000408402", "ENSEMBL:ENSP00000408402.3", "ENSEMBL:ENSP00000503282", "ENSEMBL:ENSP00000503282.1", "ENSEMBL:ENSP00000504180", "ENSEMBL:ENSP00000504180.1", "UMLS:C0643681", "MESH:C066737", "UniProtKB:Q9BVT0"], "information_content": 90.9}
{"id": "NCBIGene:284184", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFAF8", "equivalent_identifiers": ["NCBIGene:284184", "ENSEMBL:ENSG00000224877", "HGNC:33551", "OMIM:618461", "UMLS:C4320593", "UniProtKB:A1L188", "PR:A1L188", "ENSEMBL:ENSP00000400184", "ENSEMBL:ENSP00000400184.2"], "information_content": 92.8}
{"id": "NCBIGene:24147", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FJX1", "equivalent_identifiers": ["NCBIGene:24147", "ENSEMBL:ENSG00000179431", "HGNC:17166", "OMIM:612206", "UMLS:C1424790", "UniProtKB:Q86VR8", "PR:Q86VR8", "ENSEMBL:ENSP00000400223", "ENSEMBL:ENSP00000400223.1", "UMLS:C3884009", "MESH:C000592900"], "information_content": 100.0}
{"id": "NCBIGene:219793", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBATA", "equivalent_identifiers": ["NCBIGene:219793", "ENSEMBL:ENSG00000166220", "HGNC:23511", "OMIM:612640", "UMLS:C1428114", "UniProtKB:A0A0A0MSR7", "ENSEMBL:ENSP00000400224", "ENSEMBL:ENSP00000400224.3", "UMLS:C2355332", "MESH:C530339", "UniProtKB:A0A8I5KS30", "ENSEMBL:ENSP00000509608", "ENSEMBL:ENSP00000509608.1", "UniProtKB:B7ZMN4", "UniProtKB:B7ZMN5", "UniProtKB:Q96M53", "PR:Q96M53"]}
{"id": "UniProtKB:Q9GZS0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal intermediate chain 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZS0-1", "PR:Q9GZS0-1", "ENSEMBL:ENSP00000308312", "ENSEMBL:ENSP00000308312.6", "ENSEMBL:ENSP00000400252", "ENSEMBL:ENSP00000400252.2"], "information_content": 100.0}
{"id": "MONDO:0008927", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "colobomatous optic disc-macular atrophy-chorioretinopathy syndrome", "equivalent_identifiers": ["MONDO:0008927", "DOID:0080635", "OMIM:212550", "orphanet:435930", "UMLS:C1859311", "UMLS:C4225424", "MESH:C565876", "SNOMEDCT:1197357008", "medgen:894574"], "information_content": 100.0}
{"id": "UniProtKB:Q6PHR2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase ULK3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PHR2-1", "PR:Q6PHR2-1", "ENSEMBL:ENSP00000400312", "ENSEMBL:ENSP00000400312.2"], "information_content": 100.0}
{"id": "UniProtKB:H7C1H1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H7C1H1_HUMAN Major facilitator superfamily (MFS) profile domain-containing protein (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:H7C1H1", "ENSEMBL:ENSP00000400325", "ENSEMBL:ENSP00000400325.3", "ENSEMBL:ENSP00000487472", "ENSEMBL:ENSP00000487472.1"]}
{"id": "UniProtKB:Q96L92-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-27 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96L92-1", "PR:Q96L92-1", "ENSEMBL:ENSP00000400333", "ENSEMBL:ENSP00000400333.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y261-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hepatocyte nuclear factor 3-beta isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y261-2", "PR:Q9Y261-2", "ENSEMBL:ENSP00000400341", "ENSEMBL:ENSP00000400341.3"], "information_content": 100.0}
{"id": "NCBIGene:3908", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LAMA2", "equivalent_identifiers": ["NCBIGene:3908", "ENSEMBL:ENSG00000196569", "HGNC:6482", "OMIM:156225", "UMLS:C1416776", "UniProtKB:A0A087WYF1", "ENSEMBL:ENSP00000481744", "ENSEMBL:ENSP00000481744.2", "UniProtKB:P24043", "PR:P24043", "ENSEMBL:ENSP00000400365", "ENSEMBL:ENSP00000400365.2", "UMLS:C1569076", "UniProtKB:Q59H37"], "information_content": 86.3}
{"id": "UniProtKB:Q6P179-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endoplasmic reticulum aminopeptidase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P179-1", "PR:Q6P179-1", "ENSEMBL:ENSP00000400376", "ENSEMBL:ENSP00000400376.3", "ENSEMBL:ENSP00000421175", "ENSEMBL:ENSP00000421175.2"], "information_content": 100.0}
{"id": "NCBIGene:3185", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HNRNPF", "equivalent_identifiers": ["NCBIGene:3185", "ENSEMBL:ENSG00000169813", "HGNC:5039", "OMIM:601037", "UMLS:C1415641", "UniProtKB:P52597", "PR:P52597", "ENSEMBL:ENSP00000338477", "ENSEMBL:ENSP00000338477.3", "ENSEMBL:ENSP00000348345", "ENSEMBL:ENSP00000348345.3", "ENSEMBL:ENSP00000349573", "ENSEMBL:ENSP00000349573.4", "ENSEMBL:ENSP00000400433", "ENSEMBL:ENSP00000400433.2", "ENSEMBL:ENSP00000438061", "ENSEMBL:ENSP00000438061.1", "ENSEMBL:ENSP00000507787", "ENSEMBL:ENSP00000507787.1", "UMLS:C5391367", "MESH:C000657305"], "information_content": 92.8}
{"id": "UniProtKB:O60641-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "clathrin coat assembly protein AP180 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60641-1", "PR:O60641-1", "ENSEMBL:ENSP00000358708", "ENSEMBL:ENSP00000358708.2", "ENSEMBL:ENSP00000400459", "ENSEMBL:ENSP00000400459.2", "ENSEMBL:ENSP00000428215", "ENSEMBL:ENSP00000428215.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BVX2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 106C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVX2-1", "PR:Q9BVX2-1", "ENSEMBL:ENSP00000400471", "ENSEMBL:ENSP00000400471.2", "ENSEMBL:ENSP00000446657", "ENSEMBL:ENSP00000446657.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96MX0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CKLF-like MARVEL transmembrane domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MX0-1", "PR:Q96MX0-1", "ENSEMBL:ENSP00000354579", "ENSEMBL:ENSP00000354579.4", "ENSEMBL:ENSP00000400482", "ENSEMBL:ENSP00000400482.2", "ENSEMBL:ENSP00000455758", "ENSEMBL:ENSP00000455758.1", "ENSEMBL:ENSP00000455851", "ENSEMBL:ENSP00000455851.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6K1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "THAP domain-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6K1-1", "PR:Q7Z6K1-1", "ENSEMBL:ENSP00000400500", "ENSEMBL:ENSP00000400500.2"], "information_content": 100.0}
{"id": "UniProtKB:Q53R41-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FAST kinase domain-containing protein 1, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53R41-1", "PR:Q53R41-1", "ENSEMBL:ENSP00000400513", "ENSEMBL:ENSP00000400513.2"], "information_content": 100.0}
{"id": "NCBIGene:6369", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL24", "equivalent_identifiers": ["NCBIGene:6369", "ENSEMBL:ENSG00000106178", "HGNC:10623", "OMIM:602495", "UMLS:C1332687", "UniProtKB:O00175", "PR:O00175", "ENSEMBL:ENSP00000222902", "ENSEMBL:ENSP00000222902.2", "ENSEMBL:ENSP00000400533", "ENSEMBL:ENSP00000400533.1", "UMLS:C1701443", "MESH:C515484"], "information_content": 100.0}
{"id": "NCBIGene:6635", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNRPE", "equivalent_identifiers": ["NCBIGene:6635", "ENSEMBL:ENSG00000182004", "HGNC:11161", "OMIM:128260", "UMLS:C1420292", "UniProtKB:P62304", "PR:P62304", "ENSEMBL:ENSP00000400591", "ENSEMBL:ENSP00000400591.2", "UMLS:C1700231", "MESH:C526413"], "information_content": 92.8}
{"id": "NCBIGene:87178", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PNPT1", "equivalent_identifiers": ["NCBIGene:87178", "ENSEMBL:ENSG00000138035", "HGNC:23166", "OMIM:610316", "UMLS:C1427960", "UniProtKB:Q8TCS8", "PR:Q8TCS8", "ENSEMBL:ENSP00000393953", "ENSEMBL:ENSP00000393953.1", "ENSEMBL:ENSP00000400646", "ENSEMBL:ENSP00000400646.2", "UMLS:C1310854", "MESH:C476417"], "information_content": 90.9}
{"id": "UniProtKB:Q96DY2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein regulatory complex protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DY2-1", "PR:Q96DY2-1", "ENSEMBL:ENSP00000400669", "ENSEMBL:ENSP00000400669.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14344-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein subunit alpha-13 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14344-1", "PR:Q14344-1", "ENSEMBL:ENSP00000400717", "ENSEMBL:ENSP00000400717.2"], "information_content": 100.0}
{"id": "NCBIGene:80723", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC35G2", "equivalent_identifiers": ["NCBIGene:80723", "ENSEMBL:ENSG00000168917", "HGNC:28480", "OMIM:617812", "UMLS:C3469827", "UniProtKB:Q8TBE7", "PR:Q8TBE7", "ENSEMBL:ENSP00000376794", "ENSEMBL:ENSP00000376794.3", "ENSEMBL:ENSP00000400839", "ENSEMBL:ENSP00000400839.2"], "information_content": 92.8}
{"id": "NCBIGene:728927", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF736", "equivalent_identifiers": ["NCBIGene:728927", "ENSEMBL:ENSG00000234444", "HGNC:32467", "UMLS:C2681142", "UniProtKB:B4DX44", "PR:B4DX44", "ENSEMBL:ENSP00000347210", "ENSEMBL:ENSP00000347210.4", "ENSEMBL:ENSP00000400852", "ENSEMBL:ENSP00000400852.1"], "information_content": 92.8}
{"id": "UniProtKB:Q9BTE6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alanyl-tRNA editing protein Aarsd1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTE6-1", "PR:Q9BTE6-1", "ENSEMBL:ENSP00000400870", "ENSEMBL:ENSP00000400870.1"], "information_content": 100.0}
{"id": "NCBIGene:100287178", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP17L11", "equivalent_identifiers": ["NCBIGene:100287178", "ENSEMBL:ENSG00000233136", "HGNC:44439", "UMLS:C3543011", "UniProtKB:C9JVI0", "PR:C9JVI0", "ENSEMBL:ENSP00000400880", "ENSEMBL:ENSP00000400880.1"], "information_content": 100.0}
{"id": "MONDO:0006335", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian endometrioid adenocarcinoma", "equivalent_identifiers": ["MONDO:0006335", "DOID:5828", "orphanet:454723", "EFO:1000416", "EFO:1001515", "UMLS:C0346163", "MEDDRA:10073269", "NCIT:C7979", "SNOMEDCT:254852002", "medgen:91087"], "information_content": 79.9}
{"id": "NCBIGene:9677", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPIP5K1", "equivalent_identifiers": ["NCBIGene:9677", "ENSEMBL:ENSG00000168781", "HGNC:29023", "OMIM:610979", "UMLS:C1825477", "UniProtKB:A0A8J8ZH50", "ENSEMBL:ENSP00000400887", "ENSEMBL:ENSP00000400887.2", "UniProtKB:A0A9L9PYJ9", "ENSEMBL:ENSP00000516724", "ENSEMBL:ENSP00000516724.1", "UniProtKB:B7WPL9", "ENSEMBL:ENSP00000371309", "ENSEMBL:ENSP00000371309.1", "UniProtKB:Q6PFW1", "PR:Q6PFW1", "UMLS:C1956847", "MESH:C519580"]}
{"id": "UniProtKB:A2RU30-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein TESPA1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2RU30-1", "PR:A2RU30-1", "ENSEMBL:ENSP00000312679", "ENSEMBL:ENSP00000312679.8", "ENSEMBL:ENSP00000400892", "ENSEMBL:ENSP00000400892.1"], "information_content": 100.0}
{"id": "NCBIGene:5179", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PENK", "equivalent_identifiers": ["NCBIGene:5179", "ENSEMBL:ENSG00000181195", "HGNC:8831", "OMIM:131330", "UMLS:C1418457", "UniProtKB:P01210", "PR:P01210", "ENSEMBL:ENSP00000324248", "ENSEMBL:ENSP00000324248.3", "ENSEMBL:ENSP00000400894", "ENSEMBL:ENSP00000400894.2", "UMLS:C4285073", "UMLS:C4285605", "UMLS:C5441703"], "information_content": 89.4}
{"id": "UniProtKB:P68036-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-conjugating enzyme E2 L3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P68036-3", "PR:P68036-3", "ENSEMBL:ENSP00000400906", "ENSEMBL:ENSP00000400906.2"], "information_content": 100.0}
{"id": "UniProtKB:Q00872-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin-binding protein C, slow-type isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q00872-6", "PR:Q00872-6", "ENSEMBL:ENSP00000400908", "ENSEMBL:ENSP00000400908.2"], "information_content": 100.0}
{"id": "NCBIGene:122060", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLAIN1", "equivalent_identifiers": ["NCBIGene:122060", "ENSEMBL:ENSG00000139737", "HGNC:26387", "OMIM:610491", "UMLS:C1822732", "UniProtKB:A0A0A0MSS3", "ENSEMBL:ENSP00000400921", "ENSEMBL:ENSP00000400921.2", "UMLS:C1722235", "MESH:C510771", "UniProtKB:A0A994J5K0", "ENSEMBL:ENSP00000516138", "ENSEMBL:ENSP00000516138.1", "UniProtKB:B7Z326", "ENSEMBL:ENSP00000314546", "ENSEMBL:ENSP00000314546.8", "UniProtKB:Q5T6P1", "ENSEMBL:ENSP00000403049", "ENSEMBL:ENSP00000403049.2", "UniProtKB:Q7L0J2", "UniProtKB:Q8ND83", "PR:Q8ND83"]}
{"id": "UniProtKB:Q2M3R5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 35 member G1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2M3R5-1", "PR:Q2M3R5-1", "ENSEMBL:ENSP00000400932", "ENSEMBL:ENSP00000400932.1"], "information_content": 100.0}
{"id": "UniProtKB:O75290-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 780A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O75290-3", "PR:O75290-3", "ENSEMBL:ENSP00000400997", "ENSEMBL:ENSP00000400997.1", "ENSEMBL:ENSP00000469786", "ENSEMBL:ENSP00000469786.1", "ENSEMBL:ENSP00000486345", "ENSEMBL:ENSP00000486345.1", "ENSEMBL:ENSP00000487366", "ENSEMBL:ENSP00000487366.1"], "information_content": 100.0}
{"id": "NCBIGene:832", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAPZB", "equivalent_identifiers": ["NCBIGene:832", "ENSEMBL:ENSG00000077549", "HGNC:1491", "OMIM:601572", "UMLS:C1413124", "UniProtKB:A0A384MR50", "UMLS:C4044050", "MESH:C000598253", "UniProtKB:B1AK85", "ENSEMBL:ENSP00000264203", "ENSEMBL:ENSP00000264203.3", "UniProtKB:B1AK88", "ENSEMBL:ENSP00000401010", "ENSEMBL:ENSP00000401010.1", "UniProtKB:B4DWA6", "UniProtKB:P47756", "PR:P47756", "UniProtKB:Q7L4N0"]}
{"id": "UniProtKB:Q9BRX5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA replication complex GINS protein PSF3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRX5-3", "PR:Q9BRX5-3", "ENSEMBL:ENSP00000401018", "ENSEMBL:ENSP00000401018.2"], "information_content": 100.0}
{"id": "UniProtKB:F8WEQ3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F8WEQ3_HUMAN SH3 domain-binding protein 1 (trembl)", "equivalent_identifiers": ["UniProtKB:F8WEQ3", "ENSEMBL:ENSP00000401076"]}
{"id": "NCBIGene:390616", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD34C", "equivalent_identifiers": ["NCBIGene:390616", "ENSEMBL:ENSG00000235711", "HGNC:33888", "UMLS:C2239673", "UniProtKB:P0C6C1", "PR:P0C6C1", "ENSEMBL:ENSP00000401089", "ENSEMBL:ENSP00000401089.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPW6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-binding protein SATB2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPW6-1", "PR:Q9UPW6-1", "ENSEMBL:ENSP00000260926", "ENSEMBL:ENSP00000260926.5", "ENSEMBL:ENSP00000401112", "ENSEMBL:ENSP00000401112.1", "ENSEMBL:ENSP00000405420", "ENSEMBL:ENSP00000405420.1", "ENSEMBL:ENSP00000514854", "ENSEMBL:ENSP00000514854.1"], "information_content": 100.0}
{"id": "MONDO:0003964", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myositis ossificans", "equivalent_identifiers": ["MONDO:0003964", "DOID:668", "UMLS:C0027122", "MESH:D009221", "MEDDRA:10048618", "NCIT:C3253", "SNOMEDCT:44551007", "medgen:6503", "icd11.foundation:635062595"], "information_content": 95.4}
{"id": "NCBIGene:51188", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SS18L2", "equivalent_identifiers": ["NCBIGene:51188", "ENSEMBL:ENSG00000008324", "HGNC:15593", "OMIM:606473", "UMLS:C1423602", "UniProtKB:Q9UHA2", "PR:Q9UHA2", "ENSEMBL:ENSP00000011691", "ENSEMBL:ENSP00000011691.4", "ENSEMBL:ENSP00000401115", "ENSEMBL:ENSP00000401115.1"], "information_content": 90.9}
{"id": "UniProtKB:O43903-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "growth arrest-specific protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43903-1", "PR:O43903-1", "ENSEMBL:ENSP00000278187", "ENSEMBL:ENSP00000278187.3", "ENSEMBL:ENSP00000401145", "ENSEMBL:ENSP00000401145.2"], "information_content": 100.0}
{"id": "UniProtKB:O94966-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 19 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:O94966-5", "PR:O94966-5", "ENSEMBL:ENSP00000401197", "ENSEMBL:ENSP00000401197.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H7X0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-alpha-acetyltransferase 60 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H7X0-2", "PR:Q9H7X0-2", "ENSEMBL:ENSP00000401237", "ENSEMBL:ENSP00000401237.2"], "information_content": 100.0}
{"id": "NCBIGene:56474", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTPS2", "equivalent_identifiers": ["NCBIGene:56474", "ENSEMBL:ENSG00000047230", "HGNC:2520", "OMIM:300380", "UMLS:C1413805", "UniProtKB:Q9NRF8", "PR:Q9NRF8", "ENSEMBL:ENSP00000352222", "ENSEMBL:ENSP00000352222.4", "ENSEMBL:ENSP00000369590", "ENSEMBL:ENSP00000369590.3", "ENSEMBL:ENSP00000401264", "ENSEMBL:ENSP00000401264.1", "UMLS:C5391772", "MESH:C000707227"], "information_content": 92.8}
{"id": "UniProtKB:Q75N03-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase Hakai isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q75N03-1", "PR:Q75N03-1", "ENSEMBL:ENSP00000401277", "ENSEMBL:ENSP00000401277.2"], "information_content": 100.0}
{"id": "UniProtKB:P29353-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SHC-transforming protein 1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:P29353-6", "PR:P29353-6", "ENSEMBL:ENSP00000401303", "ENSEMBL:ENSP00000401303.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5CZC0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibrous sheath-interacting protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5CZC0-1", "PR:Q5CZC0-1", "ENSEMBL:ENSP00000401306", "ENSEMBL:ENSP00000401306.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7RTY5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine protease 48 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTY5-2", "PR:Q7RTY5-2", "ENSEMBL:ENSP00000401328", "ENSEMBL:ENSP00000401328.2"], "information_content": 100.0}
{"id": "NCBIGene:58986", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGAP6", "equivalent_identifiers": ["NCBIGene:58986", "ENSEMBL:ENSG00000129925", "HGNC:17205", "OMIM:619342", "UMLS:C1424820", "UniProtKB:K4DI83", "ENSEMBL:ENSP00000250930", "ENSEMBL:ENSP00000250930.3", "UniProtKB:Q9HCN3", "PR:Q9HCN3", "ENSEMBL:ENSP00000401338", "ENSEMBL:ENSP00000401338.2", "UMLS:C0961415", "MESH:C414584"], "information_content": 95.4}
{"id": "MONDO:0032822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 80", "equivalent_identifiers": ["MONDO:0032822", "DOID:0112216", "OMIM:618580", "UMLS:C5231418", "medgen:1684779"], "information_content": 100.0}
{"id": "MONDO:0033364", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 55", "equivalent_identifiers": ["MONDO:0033364", "DOID:0080283", "OMIM:617599", "UMLS:C4539843", "medgen:1622363"], "information_content": 100.0}
{"id": "MONDO:0044210", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thalassemia minor", "equivalent_identifiers": ["MONDO:0044210", "DOID:0080774", "UMLS:C0085578", "UMLS:C0702157", "UMLS:C0869532", "MEDDRA:10043393", "MEDDRA:10043396", "MEDDRA:10054662", "MEDDRA:10054664", "MEDDRA:10084867", "MEDDRA:10084876", "SNOMEDCT:19442009", "medgen:450549"], "information_content": 100.0}
{"id": "UniProtKB:P31483-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytotoxic granule associated RNA binding protein TIA1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P31483-1", "PR:P31483-1", "ENSEMBL:ENSP00000401371", "ENSEMBL:ENSP00000401371.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5VIR6-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 53 homolog isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:Q5VIR6-4", "PR:Q5VIR6-4", "ENSEMBL:ENSP00000401435", "ENSEMBL:ENSP00000401435.2", "ENSEMBL:ENSP00000492761", "ENSEMBL:ENSP00000492761.1", "ENSEMBL:ENSP00000505997", "ENSEMBL:ENSP00000505997.1"], "information_content": 100.0}
{"id": "UniProtKB:O75112-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM domain-binding protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75112-2", "PR:O75112-2", "ENSEMBL:ENSP00000401437", "ENSEMBL:ENSP00000401437.3"], "information_content": 100.0}
{"id": "UniProtKB:O75460-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase/endoribonuclease IRE1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75460-1", "PR:O75460-1", "ENSEMBL:ENSP00000401445", "ENSEMBL:ENSP00000401445.2"], "information_content": 100.0}
{"id": "NCBIGene:5905", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RANGAP1", "equivalent_identifiers": ["NCBIGene:5905", "ENSEMBL:ENSG00000100401", "HGNC:9854", "OMIM:602362", "UMLS:C1335589", "UniProtKB:P46060", "PR:P46060", "ENSEMBL:ENSP00000348577", "ENSEMBL:ENSP00000348577.3", "ENSEMBL:ENSP00000385866", "ENSEMBL:ENSP00000385866.1", "ENSEMBL:ENSP00000401470", "ENSEMBL:ENSP00000401470.2", "ENSEMBL:ENSP00000516069", "ENSEMBL:ENSP00000516069.1", "UMLS:C0294869", "MESH:C092317", "UniProtKB:Q9BSK3"], "information_content": 87.2}
{"id": "UniProtKB:C9JQI7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 232 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:C9JQI7-1", "PR:C9JQI7-1", "ENSEMBL:ENSP00000401477", "ENSEMBL:ENSP00000401477.2"], "information_content": 100.0}
{"id": "NCBIGene:143678", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FREY1", "equivalent_identifiers": ["NCBIGene:143678", "ENSEMBL:ENSG00000234776", "HGNC:37213", "UMLS:C2828857", "UniProtKB:C9JXX5", "PR:C9JXX5", "ENSEMBL:ENSP00000401498", "ENSEMBL:ENSP00000401498.1"], "information_content": 100.0}
{"id": "UniProtKB:O43699-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialic acid-binding Ig-like lectin 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43699-1", "PR:O43699-1", "ENSEMBL:ENSP00000401502", "ENSEMBL:ENSP00000401502.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6XQN6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nicotinate phosphoribosyltransferase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6XQN6-1", "PR:Q6XQN6-1", "ENSEMBL:ENSP00000401508", "ENSEMBL:ENSP00000401508.2", "ENSEMBL:ENSP00000480017", "ENSEMBL:ENSP00000480017.1"], "information_content": 100.0}
{"id": "NCBIGene:161497", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STRC", "equivalent_identifiers": ["NCBIGene:161497", "ENSEMBL:ENSG00000242866", "HGNC:16035", "OMIM:606440", "UMLS:C1423927", "UniProtKB:Q7RTU9", "PR:Q7RTU9", "ENSEMBL:ENSP00000401513", "ENSEMBL:ENSP00000401513.2", "UMLS:C1432932", "MESH:C499079"], "information_content": 95.4}
{"id": "UniProtKB:Q9P2D7-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal heavy chain 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2D7-4", "PR:Q9P2D7-4", "ENSEMBL:ENSP00000401514", "ENSEMBL:ENSP00000401514.2"], "information_content": 100.0}
{"id": "MONDO:0014883", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypertrophic cardiomyopathy 26", "equivalent_identifiers": ["MONDO:0014883", "DOID:0110327", "OMIM:617047", "UMLS:C4310749", "UMLS:C5830134", "UMLS:C5830135", "UMLS:C5830688", "NCIT:C179295", "medgen:934716"], "information_content": 100.0}
{"id": "NCBIGene:5902", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RANBP1", "equivalent_identifiers": ["NCBIGene:5902", "ENSEMBL:ENSG00000099901", "HGNC:9847", "OMIM:601180", "UMLS:C1419258", "UniProtKB:A0A140VK94", "UMLS:C1690868", "UniProtKB:B3KUP2", "UniProtKB:B4DE76", "UniProtKB:F6WQW2", "ENSEMBL:ENSP00000401564", "ENSEMBL:ENSP00000401564.2", "UniProtKB:P43487", "PR:P43487"]}
{"id": "UniProtKB:O95905-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ecdysoneless homolog isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O95905-3", "PR:O95905-3", "ENSEMBL:ENSP00000401566", "ENSEMBL:ENSP00000401566.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "death domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMT9-1", "PR:Q6ZMT9-1", "ENSEMBL:ENSP00000401597", "ENSEMBL:ENSP00000401597.2"], "information_content": 100.0}
{"id": "NCBIGene:23026", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYO16", "equivalent_identifiers": ["NCBIGene:23026", "ENSEMBL:ENSG00000041515", "HGNC:29822", "OMIM:615479", "UMLS:C2239765", "UniProtKB:F8W883", "ENSEMBL:ENSP00000401633", "ENSEMBL:ENSP00000401633.3", "UMLS:C4277281", "MESH:C000606501", "UniProtKB:Q9Y6X6", "PR:Q9Y6X6"]}
{"id": "NCBIGene:57343", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF304", "equivalent_identifiers": ["NCBIGene:57343", "ENSEMBL:ENSG00000131845", "HGNC:13505", "OMIM:613840", "UMLS:C1422026", "UniProtKB:E7EQD3", "ENSEMBL:ENSP00000401642", "ENSEMBL:ENSP00000401642.2", "UMLS:C1310514", "MESH:C457777", "UniProtKB:M0QZ59", "ENSEMBL:ENSP00000470319", "ENSEMBL:ENSP00000470319.1", "UniProtKB:Q2T9G7", "UniProtKB:Q2T9G8", "UniProtKB:Q9HCX3", "PR:Q9HCX3", "ENSEMBL:ENSP00000282286", "ENSEMBL:ENSP00000282286.4", "ENSEMBL:ENSP00000375586", "ENSEMBL:ENSP00000375586.3"]}
{"id": "NCBIGene:5055", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINB2", "equivalent_identifiers": ["NCBIGene:5055", "ENSEMBL:ENSG00000197632", "HGNC:8584", "OMIM:173390", "UMLS:C1418253", "UniProtKB:P05120", "PR:P05120", "ENSEMBL:ENSP00000299502", "ENSEMBL:ENSP00000299502.4", "ENSEMBL:ENSP00000401645", "ENSEMBL:ENSP00000401645.1", "UMLS:C3887675", "UMLS:C5564583", "MESH:C000718834"], "information_content": 95.4}
{"id": "UniProtKB:Q8IZQ8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myocardin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZQ8-3", "PR:Q8IZQ8-3", "ENSEMBL:ENSP00000401678", "ENSEMBL:ENSP00000401678.1"], "information_content": 100.0}
{"id": "UniProtKB:P32189-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycerol kinase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P32189-3", "PR:P32189-3", "ENSEMBL:ENSP00000401720", "ENSEMBL:ENSP00000401720.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z4N8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prolyl 4-hydroxylase subunit alpha-3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4N8-3", "PR:Q7Z4N8-3", "ENSEMBL:ENSP00000401749", "ENSEMBL:ENSP00000401749.2"], "information_content": 100.0}
{"id": "UniProtKB:Q99966-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Cbp/p300-interacting transactivator 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99966-2", "PR:Q99966-2", "ENSEMBL:ENSP00000388548", "ENSEMBL:ENSP00000388548.1", "ENSEMBL:ENSP00000401764", "ENSEMBL:ENSP00000401764.2"], "information_content": 100.0}
{"id": "UniProtKB:P56378-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP synthase subunit ATP5MJ, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P56378-2", "PR:P56378-2", "ENSEMBL:ENSP00000401770", "ENSEMBL:ENSP00000401770.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96CM8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96CM8-2", "PR:Q96CM8-2", "ENSEMBL:ENSP00000401831", "ENSEMBL:ENSP00000401831.2"], "information_content": 100.0}
{"id": "NCBIGene:8692", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HYAL2", "equivalent_identifiers": ["NCBIGene:8692", "ENSEMBL:ENSG00000068001", "HGNC:5321", "OMIM:603551", "UMLS:C1415826", "UniProtKB:Q12891", "PR:Q12891", "ENSEMBL:ENSP00000350387", "ENSEMBL:ENSP00000350387.4", "ENSEMBL:ENSP00000378571", "ENSEMBL:ENSP00000378571.3", "ENSEMBL:ENSP00000401853", "ENSEMBL:ENSP00000401853.1", "ENSEMBL:ENSP00000406657", "ENSEMBL:ENSP00000406657.1"], "information_content": 92.8}
{"id": "UniProtKB:Q9BW11-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "max dimerization protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BW11-1", "PR:Q9BW11-1", "ENSEMBL:ENSP00000401867", "ENSEMBL:ENSP00000401867.2", "ENSEMBL:ENSP00000421463", "ENSEMBL:ENSP00000421463.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFY9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch repeat and BTB domain-containing protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFY9-1", "PR:Q8NFY9-1", "ENSEMBL:ENSP00000401878", "ENSEMBL:ENSP00000401878.2"], "information_content": 100.0}
{"id": "UniProtKB:P04049-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RAF proto-oncogene serine/threonine-protein kinase isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P04049-2", "PR:P04049-2", "ENSEMBL:ENSP00000401888", "ENSEMBL:ENSP00000401888.2"], "information_content": 100.0}
{"id": "UniProtKB:O00238-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bone morphogenetic protein receptor type-1B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O00238-2", "PR:O00238-2", "ENSEMBL:ENSP00000401907", "ENSEMBL:ENSP00000401907.2"], "information_content": 100.0}
{"id": "MONDO:0001227", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic tympanitis", "equivalent_identifiers": ["MONDO:0001227", "DOID:11217", "UMLS:C0395849", "MEDDRA:10009020", "MEDDRA:10086672", "SNOMEDCT:89723004", "medgen:583089", "ICD10:H73.1", "ICD9:384.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPQ9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trinucleotide repeat-containing gene 6B protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPQ9-3", "PR:Q9UPQ9-3", "ENSEMBL:ENSP00000401946", "ENSEMBL:ENSP00000401946.2"], "information_content": 100.0}
{"id": "NCBIGene:7766", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF223", "equivalent_identifiers": ["NCBIGene:7766", "ENSEMBL:ENSG00000178386", "HGNC:13016", "UMLS:C1421712", "UniProtKB:Q9UK11", "PR:Q9UK11", "ENSEMBL:ENSP00000401947", "ENSEMBL:ENSP00000401947.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z434-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial antiviral-signaling protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z434-1", "PR:Q7Z434-1", "ENSEMBL:ENSP00000401980", "ENSEMBL:ENSP00000401980.2"], "information_content": 100.0}
{"id": "NCBIGene:284018", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C17orf58", "equivalent_identifiers": ["NCBIGene:284018", "ENSEMBL:ENSG00000186665", "HGNC:27568", "UMLS:C1824450", "UniProtKB:A0A8J8YVE6", "ENSEMBL:ENSP00000334741", "ENSEMBL:ENSP00000334741.7", "UniProtKB:A0A8J8ZI57", "ENSEMBL:ENSP00000402020", "ENSEMBL:ENSP00000402020.2", "UniProtKB:Q2M2W7", "PR:Q2M2W7"]}
{"id": "UniProtKB:O15018-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PDZ domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15018-1", "PR:O15018-1", "ENSEMBL:ENSP00000402033", "ENSEMBL:ENSP00000402033.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2Z2-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein MTO1 homolog, mitochondrial isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2Z2-6", "PR:Q9Y2Z2-6", "ENSEMBL:ENSP00000402038", "ENSEMBL:ENSP00000402038.2"], "information_content": 100.0}
{"id": "NCBIGene:5817", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PVR", "equivalent_identifiers": ["NCBIGene:5817", "ENSEMBL:ENSG00000073008", "HGNC:9705", "OMIM:173850", "UMLS:C1419141", "UniProtKB:A0A0A0MSA9", "ENSEMBL:ENSP00000383907", "ENSEMBL:ENSP00000383907.3", "UniProtKB:A0A0C4DG49", "ENSEMBL:ENSP00000402060", "ENSEMBL:ENSP00000402060.2", "UniProtKB:A8K4I1", "UniProtKB:P15151", "PR:P15151", "UMLS:C1506530"]}
{"id": "UniProtKB:P30291-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Wee1-like protein kinase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P30291-1", "PR:P30291-1", "ENSEMBL:ENSP00000402084", "ENSEMBL:ENSP00000402084.2"], "information_content": 100.0}
{"id": "MONDO:0014030", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 20", "equivalent_identifiers": ["MONDO:0014030", "DOID:0110625", "OMIM:615067", "UMLS:C3540844", "medgen:761920"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6K7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sterile alpha motif domain-containing protein 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6K7-3", "PR:Q8N6K7-3", "ENSEMBL:ENSP00000402092", "ENSEMBL:ENSP00000402092.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y468-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lethal(3)malignant brain tumor-like protein 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y468-5", "PR:Q9Y468-5", "ENSEMBL:ENSP00000402107", "ENSEMBL:ENSP00000402107.4"], "information_content": 100.0}
{"id": "UniProtKB:P55017-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 12 member 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P55017-2", "PR:P55017-2", "ENSEMBL:ENSP00000402152", "ENSEMBL:ENSP00000402152.2"], "information_content": 100.0}
{"id": "UniProtKB:Q1A5X6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IQ domain-containing protein J isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q1A5X6-1", "PR:Q1A5X6-1", "ENSEMBL:ENSP00000402153", "ENSEMBL:ENSP00000402153.1"], "information_content": 100.0}
{"id": "UniProtKB:Q02080-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myocyte-specific enhancer factor 2B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q02080-2", "PR:Q02080-2", "ENSEMBL:ENSP00000402154", "ENSEMBL:ENSP00000402154.2"], "information_content": 100.0}
{"id": "MONDO:0020323", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary mediastinal large B-cell lymphoma", "equivalent_identifiers": ["MONDO:0020323", "DOID:0080210", "orphanet:98838", "UMLS:C1292754", "MEDDRA:10023699", "MEDDRA:10036710", "MEDDRA:10036711", "MEDDRA:10036712", "NCIT:C9280", "SNOMEDCT:128801005", "SNOMEDCT:444910004", "medgen:714984", "icd11.foundation:950282079", "ICD10:C85.2"], "information_content": 85.5}
{"id": "MONDO:0005966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spleen cancer", "equivalent_identifiers": ["MONDO:0005966", "DOID:672", "EFO:0007491", "UMLS:C0153470", "MESH:D013160", "MEDDRA:10026702", "MEDDRA:10088492", "NCIT:C3539", "SNOMEDCT:127230005", "SNOMEDCT:363499005", "medgen:102271", "ICD10:C26.1"], "information_content": 77.1}
{"id": "MONDO:0017347", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plasmablastic lymphoma", "equivalent_identifiers": ["MONDO:0017347", "DOID:0080779", "orphanet:289666", "UMLS:C3472614", "MESH:D000069293", "MEDDRA:10065039", "NCIT:C7224", "SNOMEDCT:450909005", "SNOMEDCT:724648008", "medgen:483338", "icd11.foundation:803046659"], "information_content": 84.8}
{"id": "MONDO:0001472", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testicular lymphoma", "equivalent_identifiers": ["MONDO:0001472", "DOID:12253", "UMLS:C0349644", "NCIT:C6810", "SNOMEDCT:277664004", "medgen:138110"], "information_content": 88.2}
{"id": "NCBIGene:862", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RUNX1T1", "equivalent_identifiers": ["NCBIGene:862", "ENSEMBL:ENSG00000079102", "HGNC:1535", "OMIM:133435", "UMLS:C1539715", "UniProtKB:A0A0A0MSU1", "ENSEMBL:ENSP00000402257", "ENSEMBL:ENSP00000402257.3", "UniProtKB:B2R6I9", "UniProtKB:E5RH72", "ENSEMBL:ENSP00000429864", "ENSEMBL:ENSP00000429864.2", "UniProtKB:Q06455", "PR:Q06455", "UMLS:C0218234", "MESH:C082222", "UniProtKB:W8FW32"]}
{"id": "NCBIGene:646262", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LACTBL1", "equivalent_identifiers": ["NCBIGene:646262", "ENSEMBL:ENSG00000215906", "HGNC:35445", "UMLS:C2829630", "UniProtKB:H0Y608", "ENSEMBL:ENSP00000402297", "ENSEMBL:ENSP00000402297.3"]}
{"id": "UniProtKB:Q86VI4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal-associated transmembrane protein 4B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VI4-3", "PR:Q86VI4-3", "ENSEMBL:ENSP00000402301", "ENSEMBL:ENSP00000402301.2", "ENSEMBL:ENSP00000482533", "ENSEMBL:ENSP00000482533.1"], "information_content": 100.0}
{"id": "NCBIGene:84154", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPF2", "equivalent_identifiers": ["NCBIGene:84154", "ENSEMBL:ENSG00000197498", "HGNC:20870", "OMIM:618471", "UMLS:C1427176", "UniProtKB:Q9H7B2", "PR:Q9H7B2", "ENSEMBL:ENSP00000402338", "ENSEMBL:ENSP00000402338.2", "UMLS:C2714029", "MESH:C538716"], "information_content": 92.8}
{"id": "UniProtKB:Q9UBF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coatomer subunit gamma-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBF2-1", "PR:Q9UBF2-1", "ENSEMBL:ENSP00000402346", "ENSEMBL:ENSP00000402346.2"], "information_content": 100.0}
{"id": "NCBIGene:146822", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDRT15", "equivalent_identifiers": ["NCBIGene:146822", "ENSEMBL:ENSG00000223510", "HGNC:14395", "UMLS:C1422618", "UniProtKB:F2Z3C1", "ENSEMBL:ENSP00000399575", "ENSEMBL:ENSP00000399575.2", "UniProtKB:Q96T59", "PR:Q96T59", "ENSEMBL:ENSP00000402355", "ENSEMBL:ENSP00000402355.3", "UMLS:C5882332", "MESH:C000729800"], "information_content": 100.0}
{"id": "NCBIGene:79097", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM48", "equivalent_identifiers": ["NCBIGene:79097", "ENSEMBL:ENSG00000150244", "HGNC:19021", "UMLS:C1425958", "UniProtKB:Q8IWZ4", "PR:Q8IWZ4", "ENSEMBL:ENSP00000402414", "ENSEMBL:ENSP00000402414.2"], "information_content": 100.0}
{"id": "NCBIGene:64084", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLSTN2", "equivalent_identifiers": ["NCBIGene:64084", "ENSEMBL:ENSG00000158258", "HGNC:17448", "OMIM:611323", "UMLS:C1424969", "UniProtKB:Q9H4D0", "PR:Q9H4D0", "ENSEMBL:ENSP00000402460", "ENSEMBL:ENSP00000402460.2", "UMLS:C1175246", "MESH:C472551"], "information_content": 87.2}
{"id": "UniProtKB:Q9UBK8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methionine synthase reductase isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q9UBK8-2", "PR:Q9UBK8-2", "ENSEMBL:ENSP00000402510", "ENSEMBL:ENSP00000402510.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96Q15-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase SMG1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q15-1", "PR:Q96Q15-1", "ENSEMBL:ENSP00000402515", "ENSEMBL:ENSP00000402515.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZR1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sentrin-specific protease 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZR1-1", "PR:Q9GZR1-1", "ENSEMBL:ENSP00000402527", "ENSEMBL:ENSP00000402527.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXD2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myotubularin-related protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXD2-1", "PR:Q9NXD2-1", "ENSEMBL:ENSP00000402537", "ENSEMBL:ENSP00000402537.1", "ENSEMBL:ENSP00000484437", "ENSEMBL:ENSP00000484437.1"], "information_content": 100.0}
{"id": "MONDO:0016293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness", "equivalent_identifiers": ["MONDO:0016293", "DOID:0050534", "DOID:8498", "OMIM.PS:310500", "orphanet:215", "UMLS:C0339535", "UMLS:C3551052", "UMLS:C5848243", "MESH:C536122", "MEDDRA:10010559", "SNOMEDCT:193687000", "SNOMEDCT:232061009", "medgen:83289", "icd11.foundation:122338861", "icd11.foundation:587494652", "ICD10:H53.63", "ICD9:368.61", "HP:0007642"], "information_content": 80.6}
{"id": "UniProtKB:O75335-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "liprin-alpha-4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O75335-3", "PR:O75335-3", "ENSEMBL:ENSP00000402576", "ENSEMBL:ENSP00000402576.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFP4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFP4-1", "PR:Q8NFP4-1", "ENSEMBL:ENSP00000402584", "ENSEMBL:ENSP00000402584.2"], "information_content": 100.0}
{"id": "UniProtKB:P31327-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carbamoyl-phosphate synthase [ammonia], mitochondrial isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P31327-3", "PR:P31327-3", "ENSEMBL:ENSP00000402608", "ENSEMBL:ENSP00000402608.2"], "information_content": 100.0}
{"id": "UniProtKB:H0Y626", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H0Y626_HUMAN RING-type E3 ubiquitin transferase (trembl)", "equivalent_identifiers": ["UniProtKB:H0Y626", "ENSEMBL:ENSP00000402644", "ENSEMBL:ENSP00000402644.2"]}
{"id": "NCBIGene:388553", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MEIOSIN", "equivalent_identifiers": ["NCBIGene:388553", "ENSEMBL:ENSG00000237452", "HGNC:44318", "OMIM:621203", "UMLS:C3890348", "UniProtKB:C9JSJ3", "PR:C9JSJ3", "ENSEMBL:ENSP00000402674", "ENSEMBL:ENSP00000402674.3"], "information_content": 100.0}
{"id": "NCBIGene:5745", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTH1R", "equivalent_identifiers": ["NCBIGene:5745", "ENSEMBL:ENSG00000160801", "HGNC:9608", "OMIM:168468", "UMLS:C1419073", "UniProtKB:Q03431", "PR:Q03431", "ENSEMBL:ENSP00000321999", "ENSEMBL:ENSP00000321999.4", "ENSEMBL:ENSP00000402723", "ENSEMBL:ENSP00000402723.1", "ENSEMBL:ENSP00000411424", "ENSEMBL:ENSP00000411424.1", "ENSEMBL:ENSP00000413774", "ENSEMBL:ENSP00000413774.2", "UMLS:C1175999", "MESH:C473449", "UniProtKB:Q0VGD7"], "information_content": 95.4}
{"id": "UniProtKB:P40967-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanocyte protein PMEL isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P40967-2", "PR:P40967-2", "ENSEMBL:ENSP00000402758", "ENSEMBL:ENSP00000402758.2"], "information_content": 100.0}
{"id": "UniProtKB:O76082-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "organic cation/carnitine transporter 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O76082-3", "PR:O76082-3", "ENSEMBL:ENSP00000402760", "ENSEMBL:ENSP00000402760.2"], "information_content": 100.0}
{"id": "UniProtKB:A6NFC5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 235 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NFC5-1", "PR:A6NFC5-1", "ENSEMBL:ENSP00000402790", "ENSEMBL:ENSP00000402790.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYG8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium channel subfamily K member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYG8-1", "PR:Q9NYG8-1", "ENSEMBL:ENSP00000378033", "ENSEMBL:ENSP00000378033.2", "ENSEMBL:ENSP00000402797", "ENSEMBL:ENSP00000402797.2", "ENSEMBL:ENSP00000444948", "ENSEMBL:ENSP00000444948.1"], "information_content": 100.0}
{"id": "NCBIGene:7866", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFRD2", "equivalent_identifiers": ["NCBIGene:7866", "ENSEMBL:ENSG00000214706", "HGNC:5457", "OMIM:602725", "UMLS:C1415928", "UniProtKB:Q12894", "PR:Q12894", "ENSEMBL:ENSP00000392316", "ENSEMBL:ENSP00000392316.1", "ENSEMBL:ENSP00000402849", "ENSEMBL:ENSP00000402849.4", "UMLS:C1448787", "MESH:C490043"], "information_content": 89.4}
{"id": "UniProtKB:Q86YW5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trem-like transcript 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YW5-1", "PR:Q86YW5-1", "ENSEMBL:ENSP00000402855", "ENSEMBL:ENSP00000402855.2"], "information_content": 100.0}
{"id": "MONDO:0002783", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Shwartzman phenomenon", "equivalent_identifiers": ["MONDO:0002783", "DOID:3825", "UMLS:C0037018", "MESH:D012790", "SNOMEDCT:24453002", "medgen:48656"], "information_content": 100.0}
{"id": "UniProtKB:Q15111-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive phospholipase C-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15111-1", "PR:Q15111-1", "ENSEMBL:ENSP00000402861", "ENSEMBL:ENSP00000402861.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92609-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92609-2", "PR:Q92609-2", "ENSEMBL:ENSP00000402935", "ENSEMBL:ENSP00000402935.2", "ENSEMBL:ENSP00000512418", "ENSEMBL:ENSP00000512418.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N1B3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-Q isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1B3-2", "PR:Q8N1B3-2", "ENSEMBL:ENSP00000402949", "ENSEMBL:ENSP00000402949.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5SSJ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterochromatin protein 1-binding protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SSJ5-1", "PR:Q5SSJ5-1", "ENSEMBL:ENSP00000312625", "ENSEMBL:ENSP00000312625.5", "ENSEMBL:ENSP00000403039", "ENSEMBL:ENSP00000403039.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N0U8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vitamin K epoxide reductase complex subunit 1-like protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N0U8-2", "PR:Q8N0U8-2", "ENSEMBL:ENSP00000403077", "ENSEMBL:ENSP00000403077.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6IA17-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "single Ig IL-1-related receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IA17-1", "PR:Q6IA17-1", "ENSEMBL:ENSP00000333656", "ENSEMBL:ENSP00000333656.3", "ENSEMBL:ENSP00000380756", "ENSEMBL:ENSP00000380756.3", "ENSEMBL:ENSP00000403104", "ENSEMBL:ENSP00000403104.2", "ENSEMBL:ENSP00000519683", "ENSEMBL:ENSP00000519683.1", "ENSEMBL:ENSP00000519686", "ENSEMBL:ENSP00000519686.1"], "information_content": 100.0}
{"id": "NCBIGene:387890", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM233", "equivalent_identifiers": ["NCBIGene:387890", "ENSEMBL:ENSG00000224982", "HGNC:37219", "OMIM:618296", "UMLS:C2828879", "UniProtKB:B4DJY2", "PR:B4DJY2", "ENSEMBL:ENSP00000403130", "ENSEMBL:ENSP00000403130.1"], "information_content": 100.0}
{"id": "NCBIGene:6128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL6", "equivalent_identifiers": ["NCBIGene:6128", "ENSEMBL:ENSG00000089009", "HGNC:10362", "OMIM:603703", "UMLS:C1419685", "UniProtKB:Q02878", "PR:Q02878", "ENSEMBL:ENSP00000202773", "ENSEMBL:ENSP00000202773.9", "ENSEMBL:ENSP00000403172", "ENSEMBL:ENSP00000403172.2", "UniProtKB:Q8TBK5"], "information_content": 92.8}
{"id": "NCBIGene:54627", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAP10", "equivalent_identifiers": ["NCBIGene:54627", "ENSEMBL:ENSG00000212916", "HGNC:29265", "OMIM:618551", "UMLS:C3540873", "UniProtKB:Q9P2G4", "PR:Q9P2G4", "ENSEMBL:ENSP00000403208", "ENSEMBL:ENSP00000403208.2", "UMLS:C3710901", "MESH:C583856"], "information_content": 95.4}
{"id": "NCBIGene:51016", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EMC9", "equivalent_identifiers": ["NCBIGene:51016", "ENSEMBL:ENSG00000100908", "HGNC:20273", "UMLS:C1426827", "UniProtKB:H0YNH6", "ENSEMBL:ENSP00000454016", "ENSEMBL:ENSP00000454016.1", "ENSEMBL:ENSP00000493482", "ENSEMBL:ENSP00000493482.1", "UniProtKB:Q9Y3B6", "PR:Q9Y3B6", "ENSEMBL:ENSP00000216799", "ENSEMBL:ENSP00000216799.4", "ENSEMBL:ENSP00000403210", "ENSEMBL:ENSP00000403210.2", "ENSEMBL:ENSP00000494976", "ENSEMBL:ENSP00000494976.1", "ENSEMBL:ENSP00000495623", "ENSEMBL:ENSP00000495623.1"], "information_content": 90.9}
{"id": "NCBIGene:286151", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXO43", "equivalent_identifiers": ["NCBIGene:286151", "ENSEMBL:ENSG00000156509", "HGNC:28521", "OMIM:609110", "UMLS:C1539497", "UniProtKB:Q4G163", "PR:Q4G163", "ENSEMBL:ENSP00000403293", "ENSEMBL:ENSP00000403293.2", "UMLS:C2606180", "MESH:C533792"], "information_content": 100.0}
{"id": "UniProtKB:Q01534-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis-specific Y-encoded protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01534-1", "PR:Q01534-1", "ENSEMBL:ENSP00000403304", "ENSEMBL:ENSP00000403304.1"], "information_content": 100.0}
{"id": "UniProtKB:Q16560-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U11/U12 small nuclear ribonucleoprotein 35 kDa protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16560-2", "PR:Q16560-2", "ENSEMBL:ENSP00000403310", "ENSEMBL:ENSP00000403310.2"], "information_content": 100.0}
{"id": "NCBIGene:14", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AAMP", "equivalent_identifiers": ["NCBIGene:14", "ENSEMBL:ENSG00000127837", "HGNC:18", "OMIM:603488", "UMLS:C1412052", "UniProtKB:C9JEH3", "ENSEMBL:ENSP00000403343", "ENSEMBL:ENSP00000403343.1", "UniProtKB:Q13685", "PR:Q13685", "ENSEMBL:ENSP00000248450", "ENSEMBL:ENSP00000248450.4", "UMLS:C0297364", "MESH:C093492"]}
{"id": "NCBIGene:1173", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AP2M1", "equivalent_identifiers": ["NCBIGene:1173", "ENSEMBL:ENSG00000161203", "HGNC:564", "OMIM:601024", "UMLS:C1412444", "UniProtKB:B4DNB9", "UMLS:C5391702", "MESH:C000707003", "UniProtKB:E9PFW3", "ENSEMBL:ENSP00000403362", "ENSEMBL:ENSP00000403362.2", "UniProtKB:Q96CW1", "PR:Q96CW1"]}
{"id": "UniProtKB:Q9BYI3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hyccin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYI3-1", "PR:Q9BYI3-1", "ENSEMBL:ENSP00000403396", "ENSEMBL:ENSP00000403396.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUH5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyltransferase ZDHHC17 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUH5-1", "PR:Q8IUH5-1", "ENSEMBL:ENSP00000403397", "ENSEMBL:ENSP00000403397.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULG6-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell cycle progression protein 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULG6-5", "PR:Q9ULG6-5", "ENSEMBL:ENSP00000403400", "ENSEMBL:ENSP00000403400.3"], "information_content": 100.0}
{"id": "UniProtKB:P17039-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 30 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P17039-2", "PR:P17039-2", "ENSEMBL:ENSP00000303889", "ENSEMBL:ENSP00000303889.7", "ENSEMBL:ENSP00000403441", "ENSEMBL:ENSP00000403441.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5BJF6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "outer dense fiber protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5BJF6-1", "PR:Q5BJF6-1", "ENSEMBL:ENSP00000403453", "ENSEMBL:ENSP00000403453.2", "ENSEMBL:ENSP00000473949", "ENSEMBL:ENSP00000473949.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14451-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "growth factor receptor-bound protein 7 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q14451-3", "PR:Q14451-3", "ENSEMBL:ENSP00000403459", "ENSEMBL:ENSP00000403459.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2K1-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil and C2 domain-containing protein 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2K1-4", "PR:Q9P2K1-4", "ENSEMBL:ENSP00000403465", "ENSEMBL:ENSP00000403465.1", "ENSEMBL:ENSP00000421809", "ENSEMBL:ENSP00000421809.1"], "information_content": 100.0}
{"id": "NCBIGene:4049", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LTA", "equivalent_identifiers": ["NCBIGene:4049", "ENSEMBL:ENSG00000226979", "HGNC:6709", "OMIM:153440", "UMLS:C0812308", "UniProtKB:P01374", "PR:P01374", "ENSEMBL:ENSP00000395976", "ENSEMBL:ENSP00000395976.1", "ENSEMBL:ENSP00000402413", "ENSEMBL:ENSP00000402413.1", "ENSEMBL:ENSP00000403495", "ENSEMBL:ENSP00000403495.1", "ENSEMBL:ENSP00000412555", "ENSEMBL:ENSP00000412555.2", "ENSEMBL:ENSP00000413450", "ENSEMBL:ENSP00000413450.2", "ENSEMBL:ENSP00000416509", "ENSEMBL:ENSP00000416509.2", "UMLS:C3887647", "UMLS:C5196777", "MESH:C000630066", "UniProtKB:Q5ST95", "ENSEMBL:ENSP00000372791", "ENSEMBL:ENSP00000372791.2", "ENSEMBL:ENSP00000372793", "ENSEMBL:ENSP00000372793.2", "UniProtKB:Q5STV3", "UniProtKB:Q6FG55", "ENSEMBL:ENSP00000372991", "ENSEMBL:ENSP00000372991.2", "ENSEMBL:ENSP00000383131", "ENSEMBL:ENSP00000383131.1", "ENSEMBL:ENSP00000387924", "ENSEMBL:ENSP00000387924.2", "ENSEMBL:ENSP00000395895", "ENSEMBL:ENSP00000395895.1", "ENSEMBL:ENSP00000407133", "ENSEMBL:ENSP00000407133.2", "ENSEMBL:ENSP00000416337", "ENSEMBL:ENSP00000416337.1"], "information_content": 82.1}
{"id": "UniProtKB:Q7Z569-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BRCA1-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z569-1", "PR:Q7Z569-1", "ENSEMBL:ENSP00000403524", "ENSEMBL:ENSP00000403524.3"], "information_content": 100.0}
{"id": "UniProtKB:Q14353-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanidinoacetate N-methyltransferase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q14353-2", "PR:Q14353-2", "ENSEMBL:ENSP00000403536", "ENSEMBL:ENSP00000403536.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96LM9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C20orf173 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96LM9-2", "PR:Q96LM9-2", "ENSEMBL:ENSP00000363465", "ENSEMBL:ENSP00000363465.4", "ENSEMBL:ENSP00000403566", "ENSEMBL:ENSP00000403566.1"], "information_content": 100.0}
{"id": "UniProtKB:P20711-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aromatic-L-amino-acid decarboxylase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P20711-1", "PR:P20711-1", "ENSEMBL:ENSP00000350616", "ENSEMBL:ENSP00000350616.5", "ENSEMBL:ENSP00000403644", "ENSEMBL:ENSP00000403644.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6ICL3-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transport and Golgi organization protein 2 homolog isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q6ICL3-4", "PR:Q6ICL3-4", "ENSEMBL:ENSP00000384827", "ENSEMBL:ENSP00000384827.1", "ENSEMBL:ENSP00000403645", "ENSEMBL:ENSP00000403645.2"], "information_content": 100.0}
{"id": "NCBIGene:9179", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AP4M1", "equivalent_identifiers": ["NCBIGene:9179", "ENSEMBL:ENSG00000221838", "HGNC:574", "OMIM:602296", "UMLS:C1412454", "UniProtKB:C9JC87", "ENSEMBL:ENSP00000403663", "ENSEMBL:ENSP00000403663.1", "UniProtKB:C9JWL4", "ENSEMBL:ENSP00000401613", "ENSEMBL:ENSP00000401613.2", "UniProtKB:H7C0A0", "ENSEMBL:ENSP00000393723", "ENSEMBL:ENSP00000393723.2", "UniProtKB:O00189", "PR:O00189", "ENSEMBL:ENSP00000352603", "ENSEMBL:ENSP00000352603.4", "ENSEMBL:ENSP00000412185", "ENSEMBL:ENSP00000412185.1", "ENSEMBL:ENSP00000518888", "ENSEMBL:ENSP00000518888.1", "ENSEMBL:ENSP00000519097", "ENSEMBL:ENSP00000519097.1", "UMLS:C5780936"]}
{"id": "UniProtKB:P04554-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protamine-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P04554-2", "PR:P04554-2", "ENSEMBL:ENSP00000403681", "ENSEMBL:ENSP00000403681.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96AH0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SOSS complex subunit B2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AH0-1", "PR:Q96AH0-1", "ENSEMBL:ENSP00000403683", "ENSEMBL:ENSP00000403683.2", "ENSEMBL:ENSP00000501340", "ENSEMBL:ENSP00000501340.1", "ENSEMBL:ENSP00000501415", "ENSEMBL:ENSP00000501415.1", "ENSEMBL:ENSP00000501487", "ENSEMBL:ENSP00000501487.1"], "information_content": 100.0}
{"id": "UniProtKB:P32121-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-arrestin-2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P32121-4", "PR:P32121-4", "ENSEMBL:ENSP00000403701", "ENSEMBL:ENSP00000403701.3"], "information_content": 100.0}
{"id": "NCBIGene:10157", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AASS", "equivalent_identifiers": ["NCBIGene:10157", "ENSEMBL:ENSG00000008311", "HGNC:17366", "OMIM:605113", "UMLS:C1424938", "UniProtKB:A0A7P0T9N4", "ENSEMBL:ENSP00000505506", "ENSEMBL:ENSP00000505506.1", "ENSEMBL:ENSP00000505671", "ENSEMBL:ENSP00000505671.1", "ENSEMBL:ENSP00000505881", "ENSEMBL:ENSP00000505881.1", "UniProtKB:A4D0W4", "UniProtKB:Q9UDR5", "PR:Q9UDR5", "ENSEMBL:ENSP00000377040", "ENSEMBL:ENSP00000377040.1", "ENSEMBL:ENSP00000403768", "ENSEMBL:ENSP00000403768.2", "ENSEMBL:ENSP00000505381", "ENSEMBL:ENSP00000505381.1", "ENSEMBL:ENSP00000505958", "ENSEMBL:ENSP00000505958.1", "UMLS:C1306959", "MESH:C043044"], "information_content": 90.9}
{"id": "UniProtKB:Q9UK96-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UK96-1", "PR:Q9UK96-1", "ENSEMBL:ENSP00000403802", "ENSEMBL:ENSP00000403802.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRI5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disrupted in schizophrenia 1 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRI5-1", "PR:Q9NRI5-1", "ENSEMBL:ENSP00000403888", "ENSEMBL:ENSP00000403888.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NW81-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "distal membrane-arm assembly complex protein 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9NW81-4", "PR:Q9NW81-4", "ENSEMBL:ENSP00000403910", "ENSEMBL:ENSP00000403910.2"], "information_content": 100.0}
{"id": "NCBIGene:219899", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBCEL", "equivalent_identifiers": ["NCBIGene:219899", "ENSEMBL:ENSG00000154114", "HGNC:28115", "OMIM:610451", "UMLS:C1823249", "UniProtKB:Q5QJ74", "PR:Q5QJ74", "ENSEMBL:ENSP00000403925", "ENSEMBL:ENSP00000403925.2", "ENSEMBL:ENSP00000437184", "ENSEMBL:ENSP00000437184.1", "ENSEMBL:ENSP00000507873", "ENSEMBL:ENSP00000507873.1", "UMLS:C1610908", "MESH:C503569"], "information_content": 95.4}
{"id": "UniProtKB:Q8N7B9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EF-hand calcium-binding domain-containing protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N7B9-2", "PR:Q8N7B9-2", "ENSEMBL:ENSP00000403932", "ENSEMBL:ENSP00000403932.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86VG3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VG3-1", "PR:Q86VG3-1", "ENSEMBL:ENSP00000334848", "ENSEMBL:ENSP00000334848.5", "ENSEMBL:ENSP00000403937", "ENSEMBL:ENSP00000403937.3", "ENSEMBL:ENSP00000431374", "ENSEMBL:ENSP00000431374.2", "ENSEMBL:ENSP00000432685", "ENSEMBL:ENSP00000432685.2", "ENSEMBL:ENSP00000433407", "ENSEMBL:ENSP00000433407.2", "ENSEMBL:ENSP00000483671", "ENSEMBL:ENSP00000483671.1", "ENSEMBL:ENSP00000503448", "ENSEMBL:ENSP00000503448.1", "ENSEMBL:ENSP00000504720", "ENSEMBL:ENSP00000504720.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKZ4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "teneurin-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKZ4-2", "PR:Q9UKZ4-2", "ENSEMBL:ENSP00000403954", "ENSEMBL:ENSP00000403954.4"], "information_content": 100.0}
{"id": "NCBIGene:100288814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN34", "equivalent_identifiers": ["NCBIGene:100288814", "ENSEMBL:ENSG00000234469", "HGNC:51259", "UMLS:C3889816", "UniProtKB:H7C241", "PR:H7C241", "ENSEMBL:ENSP00000403980", "ENSEMBL:ENSP00000403980.3"], "information_content": 100.0}
{"id": "MONDO:0001317", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "phlyctenulosis", "equivalent_identifiers": ["MONDO:0001317", "DOID:11581", "UMLS:C0155080", "MEDDRA:10034910", "MEDDRA:10089366", "SNOMEDCT:67895005", "medgen:509775", "ICD10:H16.25", "ICD9:370.31"], "information_content": 100.0}
{"id": "UniProtKB:Q05084-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "islet cell autoantigen 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q05084-2", "PR:Q05084-2", "ENSEMBL:ENSP00000403982", "ENSEMBL:ENSP00000403982.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUR7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UPF0235 protein C15orf40 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUR7-3", "PR:Q8WUR7-3", "ENSEMBL:ENSP00000403987", "ENSEMBL:ENSP00000403987.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96SB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "structural maintenance of chromosomes protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96SB8-1", "PR:Q96SB8-1", "ENSEMBL:ENSP00000323439", "ENSEMBL:ENSP00000323439.4", "ENSEMBL:ENSP00000384539", "ENSEMBL:ENSP00000384539.1", "ENSEMBL:ENSP00000404092", "ENSEMBL:ENSP00000404092.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96LB3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 74 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LB3-1", "PR:Q96LB3-1", "ENSEMBL:ENSP00000369402", "ENSEMBL:ENSP00000369402.5", "ENSEMBL:ENSP00000389224", "ENSEMBL:ENSP00000389224.1", "ENSEMBL:ENSP00000404122", "ENSEMBL:ENSP00000404122.1"], "information_content": 100.0}
{"id": "MONDO:0007105", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "equivalent_identifiers": ["MONDO:0007105", "DOID:0060213", "OMIM:105550", "UMLS:C5779877", "NCIT:C168756", "medgen:1830423"], "information_content": 100.0}
{"id": "NCBIGene:7039", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGFA", "equivalent_identifiers": ["NCBIGene:7039", "ENSEMBL:ENSG00000163235", "HGNC:11765", "OMIM:190170", "UMLS:C1336620", "UniProtKB:E7EPT6", "ENSEMBL:ENSP00000414127", "ENSEMBL:ENSP00000414127.1", "UniProtKB:F8VNR3", "ENSEMBL:ENSP00000404131", "ENSEMBL:ENSP00000404131.1", "UniProtKB:P01135", "PR:P01135", "UMLS:C0072502", "UMLS:C3849193", "MESH:C587886"]}
{"id": "UniProtKB:Q9Y4F5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 170 kDa protein B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4F5-2", "PR:Q9Y4F5-2", "ENSEMBL:ENSP00000404151", "ENSEMBL:ENSP00000404151.2"], "information_content": 100.0}
{"id": "NCBIGene:29127", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RACGAP1", "equivalent_identifiers": ["NCBIGene:29127", "ENSEMBL:ENSG00000161800", "HGNC:9804", "OMIM:604980", "UMLS:C1419230", "UniProtKB:B2RE34", "UniProtKB:Q9H0H5", "PR:Q9H0H5", "ENSEMBL:ENSP00000309871", "ENSEMBL:ENSP00000309871.5", "ENSEMBL:ENSP00000404190", "ENSEMBL:ENSP00000404190.2", "ENSEMBL:ENSP00000404808", "ENSEMBL:ENSP00000404808.2", "ENSEMBL:ENSP00000449370", "ENSEMBL:ENSP00000449370.1", "ENSEMBL:ENSP00000449374", "ENSEMBL:ENSP00000449374.1"], "information_content": 90.9}
{"id": "NCBIGene:1160", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CKMT2", "equivalent_identifiers": ["NCBIGene:1160", "ENSEMBL:ENSG00000131730", "HGNC:1996", "OMIM:123295", "UMLS:C1413437", "UniProtKB:P17540", "PR:P17540", "ENSEMBL:ENSP00000254035", "ENSEMBL:ENSP00000254035.4", "ENSEMBL:ENSP00000404203", "ENSEMBL:ENSP00000404203.2", "ENSEMBL:ENSP00000410289", "ENSEMBL:ENSP00000410289.1", "UMLS:C1958459", "MESH:C521170"], "information_content": 92.8}
{"id": "NCBIGene:147872", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KASH5", "equivalent_identifiers": ["NCBIGene:147872", "ENSEMBL:ENSG00000161609", "HGNC:26520", "OMIM:618125", "UMLS:C2681331", "UniProtKB:Q8N6L0", "PR:Q8N6L0", "ENSEMBL:ENSP00000404220", "ENSEMBL:ENSP00000404220.2", "UMLS:C3502633", "MESH:C575643"], "information_content": 100.0}
{"id": "UniProtKB:Q5JST6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EF-hand domain-containing family member C2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JST6-1", "PR:Q5JST6-1", "ENSEMBL:ENSP00000404232", "ENSEMBL:ENSP00000404232.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14135-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription cofactor vestigial-like protein 4 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q14135-4", "PR:Q14135-4", "ENSEMBL:ENSP00000404251", "ENSEMBL:ENSP00000404251.2"], "information_content": 100.0}
{"id": "UniProtKB:A6NFQ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TRPM8 channel-associated factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NFQ2-1", "PR:A6NFQ2-1", "ENSEMBL:ENSP00000404265", "ENSEMBL:ENSP00000404265.2", "ENSEMBL:ENSP00000506869", "ENSEMBL:ENSP00000506869.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HAU0-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family A member 5 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAU0-6", "PR:Q9HAU0-6", "ENSEMBL:ENSP00000404296", "ENSEMBL:ENSP00000404296.2"], "information_content": 100.0}
{"id": "NCBIGene:6173", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL36A", "equivalent_identifiers": ["NCBIGene:6173", "ENSEMBL:ENSG00000241343", "HGNC:10359", "OMIM:300902", "UMLS:C1419682", "UniProtKB:J3KQN4", "ENSEMBL:ENSP00000404375", "ENSEMBL:ENSP00000404375.2", "ENSEMBL:ENSP00000483017", "ENSEMBL:ENSP00000483017.1", "UMLS:C1452423", "MESH:C489129", "UniProtKB:P83881", "PR:P83881", "ENSEMBL:ENSP00000446503", "ENSEMBL:ENSP00000446503.2"]}
{"id": "UniProtKB:P0CW20", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIMS4_HUMAN LIM and senescent cell antigen-like-containing domain protein 4 (sprot)", "equivalent_identifiers": ["UniProtKB:P0CW20", "PR:P0CW20", "ENSEMBL:ENSP00000404432", "ENSEMBL:ENSP00000404432.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5JUK2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5JUK2-2", "PR:Q5JUK2-2", "ENSEMBL:ENSP00000404438", "ENSEMBL:ENSP00000404438.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96PG8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Bcl-2-binding component 3 isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:Q96PG8-2", "PR:Q96PG8-2", "ENSEMBL:ENSP00000404503", "ENSEMBL:ENSP00000404503.1"], "information_content": 100.0}
{"id": "NCBIGene:100288323", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP21-3", "equivalent_identifiers": ["NCBIGene:100288323", "ENSEMBL:ENSG00000231068", "HGNC:34216", "UMLS:C2829627", "UniProtKB:Q3LHN1", "PR:Q3LHN1", "ENSEMBL:ENSP00000404517", "ENSEMBL:ENSP00000404517.1"], "information_content": 100.0}
{"id": "NCBIGene:8735", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYH13", "equivalent_identifiers": ["NCBIGene:8735", "ENSEMBL:ENSG00000006788", "HGNC:7571", "OMIM:603487", "UMLS:C1417536", "UniProtKB:Q9UKX3", "PR:Q9UKX3", "ENSEMBL:ENSP00000252172", "ENSEMBL:ENSP00000252172.4", "ENSEMBL:ENSP00000404570", "ENSEMBL:ENSP00000404570.3", "ENSEMBL:ENSP00000480864", "ENSEMBL:ENSP00000480864.1", "UMLS:C1722343", "MESH:C510866"], "information_content": 95.4}
{"id": "UniProtKB:Q92800-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase EZH1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92800-1", "PR:Q92800-1", "ENSEMBL:ENSP00000404658", "ENSEMBL:ENSP00000404658.1", "ENSEMBL:ENSP00000466924", "ENSEMBL:ENSP00000466924.1"], "information_content": 100.0}
{"id": "UniProtKB:P53609-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "geranylgeranyl transferase type-1 subunit beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P53609-1", "PR:P53609-1", "ENSEMBL:ENSP00000404676", "ENSEMBL:ENSP00000404676.1"], "information_content": 100.0}
{"id": "UniProtKB:Q58DX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q58DX5-1", "PR:Q58DX5-1", "ENSEMBL:ENSP00000404705", "ENSEMBL:ENSP00000404705.1"], "information_content": 100.0}
{"id": "UniProtKB:O15533-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tapasin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O15533-3", "PR:O15533-3", "ENSEMBL:ENSP00000372542", "ENSEMBL:ENSP00000372542.4", "ENSEMBL:ENSP00000404833", "ENSEMBL:ENSP00000404833.2", "ENSEMBL:ENSP00000514507", "ENSEMBL:ENSP00000514507.1"], "information_content": 100.0}
{"id": "MONDO:0011476", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MHC class I deficiency", "equivalent_identifiers": ["MONDO:0011476", "DOID:0060009", "OMIM.PS:604571", "orphanet:34592", "UMLS:C1858266", "MESH:C565759", "MEDDRA:10086668", "NCIT:C171267", "SNOMEDCT:725136003", "medgen:346868", "icd11.foundation:489749747"], "information_content": 90.9}
{"id": "UniProtKB:Q92597-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein NDRG1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92597-1", "PR:Q92597-1", "ENSEMBL:ENSP00000319977", "ENSEMBL:ENSP00000319977.8", "ENSEMBL:ENSP00000404854", "ENSEMBL:ENSP00000404854.2"], "information_content": 100.0}
{"id": "UniProtKB:P0DPB3-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "schwannomin-interacting protein 1 isoform L244 (human)", "equivalent_identifiers": ["UniProtKB:P0DPB3-4", "PR:P0DPB3-4", "ENSEMBL:ENSP00000404860", "ENSEMBL:ENSP00000404860.2"], "information_content": 100.0}
{"id": "UniProtKB:Q2TBC4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prickle-like protein 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q2TBC4-3", "PR:Q2TBC4-3", "ENSEMBL:ENSP00000404911", "ENSEMBL:ENSP00000404911.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6L1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tectonin beta-propeller repeat-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6L1-1", "PR:Q7Z6L1-1", "ENSEMBL:ENSP00000404923", "ENSEMBL:ENSP00000404923.2"], "information_content": 100.0}
{"id": "NCBIGene:144404", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM120B", "equivalent_identifiers": ["NCBIGene:144404", "ENSEMBL:ENSG00000188735", "HGNC:32008", "OMIM:616551", "UMLS:C2240088", "UniProtKB:A0PK00", "PR:A0PK00", "ENSEMBL:ENSP00000345152", "ENSEMBL:ENSP00000345152.6", "ENSEMBL:ENSP00000404991", "ENSEMBL:ENSP00000404991.2"], "information_content": 95.4}
{"id": "NCBIGene:90", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACVR1", "equivalent_identifiers": ["NCBIGene:90", "ENSEMBL:ENSG00000115170", "HGNC:171", "OMIM:102576", "UMLS:C1332012", "UniProtKB:D3DPA4", "UniProtKB:Q04771", "PR:Q04771", "ENSEMBL:ENSP00000263640", "ENSEMBL:ENSP00000263640.3", "ENSEMBL:ENSP00000387127", "ENSEMBL:ENSP00000387127.2", "ENSEMBL:ENSP00000387273", "ENSEMBL:ENSP00000387273.2", "ENSEMBL:ENSP00000400767", "ENSEMBL:ENSP00000400767.2", "ENSEMBL:ENSP00000405004", "ENSEMBL:ENSP00000405004.1", "ENSEMBL:ENSP00000440091", "ENSEMBL:ENSP00000440091.2", "ENSEMBL:ENSP00000500109", "ENSEMBL:ENSP00000500109.1", "ENSEMBL:ENSP00000500605", "ENSEMBL:ENSP00000500605.1", "ENSEMBL:ENSP00000507086", "ENSEMBL:ENSP00000507086.1", "ENSEMBL:ENSP00000507102", "ENSEMBL:ENSP00000507102.1", "ENSEMBL:ENSP00000507113", "ENSEMBL:ENSP00000507113.1", "ENSEMBL:ENSP00000507727", "ENSEMBL:ENSP00000507727.1", "ENSEMBL:ENSP00000507730", "ENSEMBL:ENSP00000507730.1", "ENSEMBL:ENSP00000508136", "ENSEMBL:ENSP00000508136.1", "ENSEMBL:ENSP00000508189", "ENSEMBL:ENSP00000508189.1", "UMLS:C1447968", "MESH:C425423"], "information_content": 89.4}
{"id": "NCBIGene:83889", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR87", "equivalent_identifiers": ["NCBIGene:83889", "ENSEMBL:ENSG00000171804", "HGNC:29934", "OMIM:620274", "UMLS:C1823848", "UniProtKB:A0AA75ISB7", "ENSEMBL:ENSP00000405012", "ENSEMBL:ENSP00000405012.2", "UniProtKB:B4DZG8", "UniProtKB:Q6ZQQ6", "PR:Q6ZQQ6"]}
{"id": "UniProtKB:Q2KHT4-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "germ cell-specific gene 1 protein isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q2KHT4-6", "PR:Q2KHT4-6", "ENSEMBL:ENSP00000405032", "ENSEMBL:ENSP00000405032.2"], "information_content": 100.0}
{"id": "UniProtKB:P78316-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolar protein 14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78316-1", "PR:P78316-1", "ENSEMBL:ENSP00000315674", "ENSEMBL:ENSP00000315674.6", "ENSEMBL:ENSP00000405068", "ENSEMBL:ENSP00000405068.2"], "information_content": 100.0}
{"id": "NCBIGene:259285", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R39", "equivalent_identifiers": ["NCBIGene:259285", "ENSEMBL:ENSG00000236398", "HGNC:18886", "UMLS:C1425856", "UniProtKB:P59534", "PR:P59534", "ENSEMBL:ENSP00000405095", "ENSEMBL:ENSP00000405095.1", "UMLS:C3180544", "MESH:C557300"], "information_content": 100.0}
{"id": "NCBIGene:728695", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPANXB1", "equivalent_identifiers": ["NCBIGene:728695", "ENSEMBL:ENSG00000227234", "HGNC:14329", "OMIM:300669", "UMLS:C1422567", "UniProtKB:Q9NS25", "PR:Q9NS25", "ENSEMBL:ENSP00000405202", "ENSEMBL:ENSP00000405202.1", "UMLS:C1870234", "UMLS:C2985372", "MESH:C518957"], "information_content": 100.0}
{"id": "UniProtKB:Q96SE7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 347 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96SE7-2", "PR:Q96SE7-2", "ENSEMBL:ENSP00000405218", "ENSEMBL:ENSP00000405218.2", "ENSEMBL:ENSP00000471712", "ENSEMBL:ENSP00000471712.2"], "information_content": 100.0}
{"id": "MONDO:0000879", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cutaneous candidiasis", "equivalent_identifiers": ["MONDO:0000879", "DOID:0080161", "UMLS:C0006846", "MESH:D002179", "MEDDRA:10007141", "MEDDRA:10007160", "MEDDRA:10011673", "MEDDRA:10027819", "MEDDRA:10027824", "MEDDRA:10027827", "MEDDRA:10027838", "MEDDRA:10040809", "MEDDRA:10043652", "MEDDRA:10054152", "SNOMEDCT:49883006", "medgen:2427"], "information_content": 95.4}
{"id": "UniProtKB:Q9P0M2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-kinase anchor protein 7 isoform gamma (human)", "equivalent_identifiers": ["UniProtKB:Q9P0M2-1", "PR:Q9P0M2-1", "ENSEMBL:ENSP00000405252", "ENSEMBL:ENSP00000405252.2"], "information_content": 95.4}
{"id": "NCBIGene:197320", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF778", "equivalent_identifiers": ["NCBIGene:197320", "ENSEMBL:ENSG00000170100", "HGNC:26479", "UMLS:C1824051", "UniProtKB:A0A0A0MSW5", "ENSEMBL:ENSP00000405289", "ENSEMBL:ENSP00000405289.3", "UMLS:C4549665", "MESH:C000622467", "UniProtKB:Q96MU6", "PR:Q96MU6"]}
{"id": "UniProtKB:P50549-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS translocation variant 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50549-1", "PR:P50549-1", "ENSEMBL:ENSP00000385551", "ENSEMBL:ENSP00000385551.2", "ENSEMBL:ENSP00000405327", "ENSEMBL:ENSP00000405327.1"], "information_content": 92.8}
{"id": "UniProtKB:P03372-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "estrogen receptor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P03372-1", "PR:P03372-1", "ENSEMBL:ENSP00000206249", "ENSEMBL:ENSP00000206249.3", "ENSEMBL:ENSP00000342630", "ENSEMBL:ENSP00000342630.5", "ENSEMBL:ENSP00000387500", "ENSEMBL:ENSP00000387500.1", "ENSEMBL:ENSP00000405330", "ENSEMBL:ENSP00000405330.1"], "information_content": 87.2}
{"id": "UniProtKB:Q92835-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92835-1", "PR:Q92835-1", "ENSEMBL:ENSP00000405338", "ENSEMBL:ENSP00000405338.2", "ENSEMBL:ENSP00000487191", "ENSEMBL:ENSP00000487191.1"], "information_content": 100.0}
{"id": "MONDO:0011183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Paget disease of bone 2, early-onset", "equivalent_identifiers": ["MONDO:0011183", "DOID:0081365", "OMIM:602080", "UMLS:C4085251", "medgen:899166"], "information_content": 100.0}
{"id": "UniProtKB:Q9NS85-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carbonic anhydrase-related protein 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NS85-1", "PR:Q9NS85-1", "ENSEMBL:ENSP00000285273", "ENSEMBL:ENSP00000285273.4", "ENSEMBL:ENSP00000390666", "ENSEMBL:ENSP00000390666.2", "ENSEMBL:ENSP00000405388", "ENSEMBL:ENSP00000405388.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86SQ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology-like domain family B member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86SQ0-1", "PR:Q86SQ0-1", "ENSEMBL:ENSP00000377502", "ENSEMBL:ENSP00000377502.3", "ENSEMBL:ENSP00000405405", "ENSEMBL:ENSP00000405405.2"], "information_content": 100.0}
{"id": "NCBIGene:57467", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HHATL", "equivalent_identifiers": ["NCBIGene:57467", "ENSEMBL:ENSG00000010282", "HGNC:13242", "OMIM:608116", "UMLS:C1825433", "UniProtKB:Q5QTR4", "UMLS:C1310094", "MESH:C432970", "UniProtKB:Q9HCP6", "PR:Q9HCP6", "ENSEMBL:ENSP00000310621", "ENSEMBL:ENSP00000310621.5", "ENSEMBL:ENSP00000405423", "ENSEMBL:ENSP00000405423.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N573-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxidation resistance protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N573-1", "PR:Q8N573-1", "ENSEMBL:ENSP00000405424", "ENSEMBL:ENSP00000405424.2"], "information_content": 100.0}
{"id": "NCBIGene:4481", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MSR1", "equivalent_identifiers": ["NCBIGene:4481", "ENSEMBL:ENSG00000038945", "HGNC:7376", "OMIM:153622", "UMLS:C1417374", "UniProtKB:B4DDJ5", "ENSEMBL:ENSP00000405453", "ENSEMBL:ENSP00000405453.2", "UniProtKB:P21757", "PR:P21757", "UMLS:C1313281", "UMLS:C3811790", "MESH:C495139"]}
{"id": "UniProtKB:Q8N434-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative transporter SVOPL isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N434-1", "PR:Q8N434-1", "ENSEMBL:ENSP00000405482", "ENSEMBL:ENSP00000405482.2", "ENSEMBL:ENSP00000501457", "ENSEMBL:ENSP00000501457.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULJ8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurabin-1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULJ8-3", "PR:Q9ULJ8-3", "ENSEMBL:ENSP00000405514", "ENSEMBL:ENSP00000405514.1"], "information_content": 100.0}
{"id": "NCBIGene:2821", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPI", "equivalent_identifiers": ["NCBIGene:2821", "ENSEMBL:ENSG00000105220", "HGNC:4458", "OMIM:172400", "UMLS:C1333690", "UniProtKB:A0A2U3TZU2", "ENSEMBL:ENSP00000405573", "ENSEMBL:ENSP00000405573.3", "UniProtKB:B4DE36", "UniProtKB:P06744", "PR:P06744", "UMLS:C0017759", "UMLS:C0085144", "UMLS:C2975867", "MESH:C554959", "MESH:D005956"]}
{"id": "NCBIGene:79718", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBL1XR1", "equivalent_identifiers": ["NCBIGene:79718", "ENSEMBL:ENSG00000177565", "HGNC:29529", "OMIM:608628", "UMLS:C1539940", "UniProtKB:C9JLJ1", "ENSEMBL:ENSP00000402402", "ENSEMBL:ENSP00000402402.2", "UniProtKB:Q9BZK7", "PR:Q9BZK7", "ENSEMBL:ENSP00000263964", "ENSEMBL:ENSP00000263964.11", "ENSEMBL:ENSP00000387849", "ENSEMBL:ENSP00000387849.3", "ENSEMBL:ENSP00000398477", "ENSEMBL:ENSP00000398477.2", "ENSEMBL:ENSP00000405574", "ENSEMBL:ENSP00000405574.1", "ENSEMBL:ENSP00000413251", "ENSEMBL:ENSP00000413251.3", "ENSEMBL:ENSP00000501274", "ENSEMBL:ENSP00000501274.1", "ENSEMBL:ENSP00000515885", "ENSEMBL:ENSP00000515885.1", "ENSEMBL:ENSP00000515886", "ENSEMBL:ENSP00000515886.1", "ENSEMBL:ENSP00000515887", "ENSEMBL:ENSP00000515887.1", "UMLS:C2700039", "MESH:C473691"], "information_content": 87.2}
{"id": "NCBIGene:79827", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLMP", "equivalent_identifiers": ["NCBIGene:79827", "ENSEMBL:ENSG00000166250", "HGNC:24039", "OMIM:611693", "UMLS:C1968826", "UniProtKB:B4E3S3", "UMLS:C1449445", "MESH:C568771", "UniProtKB:Q9H6B4", "PR:Q9H6B4", "ENSEMBL:ENSP00000405577", "ENSEMBL:ENSP00000405577.2", "ENSEMBL:ENSP00000520511", "ENSEMBL:ENSP00000520511.1"], "information_content": 86.3}
{"id": "UniProtKB:Q7L2E3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent RNA helicase DHX30 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L2E3-1", "PR:Q7L2E3-1", "ENSEMBL:ENSP00000392601", "ENSEMBL:ENSP00000392601.3", "ENSEMBL:ENSP00000405620", "ENSEMBL:ENSP00000405620.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9A8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear envelope phosphatase-regulatory subunit 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9A8-2", "PR:Q8N9A8-2", "ENSEMBL:ENSP00000405635", "ENSEMBL:ENSP00000405635.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UMY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U3 small nucleolar RNA-associated protein NOL7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMY1-1", "PR:Q9UMY1-1", "ENSEMBL:ENSP00000405674", "ENSEMBL:ENSP00000405674.2"], "information_content": 100.0}
{"id": "NCBIGene:116412", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF837", "equivalent_identifiers": ["NCBIGene:116412", "ENSEMBL:ENSG00000152475", "HGNC:25164", "UMLS:C2681151", "UniProtKB:Q96EG3", "PR:Q96EG3", "ENSEMBL:ENSP00000405699", "ENSEMBL:ENSP00000405699.1", "ENSEMBL:ENSP00000471478", "ENSEMBL:ENSP00000471478.1"], "information_content": 100.0}
{"id": "UniProtKB:O75419-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell division control protein 45 homolog isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O75419-3", "PR:O75419-3", "ENSEMBL:ENSP00000405726", "ENSEMBL:ENSP00000405726.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6NXG1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epithelial splicing regulatory protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NXG1-1", "PR:Q6NXG1-1", "ENSEMBL:ENSP00000405738", "ENSEMBL:ENSP00000405738.2"], "information_content": 100.0}
{"id": "UniProtKB:Q2Y0W8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "electroneutral sodium bicarbonate exchanger 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2Y0W8-1", "PR:Q2Y0W8-1", "ENSEMBL:ENSP00000405812", "ENSEMBL:ENSP00000405812.2"], "information_content": 100.0}
{"id": "NCBIGene:59350", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RXFP1", "equivalent_identifiers": ["NCBIGene:59350", "ENSEMBL:ENSG00000171509", "HGNC:19718", "OMIM:606654", "UMLS:C1826958", "UniProtKB:A0A087WWV0", "ENSEMBL:ENSP00000480522", "ENSEMBL:ENSP00000480522.1", "UMLS:C0962885", "MESH:C417543", "UniProtKB:A0A0A0MT52", "ENSEMBL:ENSP00000414885", "ENSEMBL:ENSP00000414885.3", "UniProtKB:B3KV27", "UniProtKB:B4DGP2", "ENSEMBL:ENSP00000405841", "ENSEMBL:ENSP00000405841.2", "UniProtKB:E9PCA3", "ENSEMBL:ENSP00000423306", "ENSEMBL:ENSP00000423306.1", "UniProtKB:Q59H16", "UniProtKB:Q9HBX9", "PR:Q9HBX9"]}
{"id": "UniProtKB:P40424-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pre-B-cell leukemia transcription factor 1 isoform PBX1a (human)", "equivalent_identifiers": ["UniProtKB:P40424-1", "PR:P40424-1", "ENSEMBL:ENSP00000405890", "ENSEMBL:ENSP00000405890.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13972-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-specific guanine nucleotide-releasing factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13972-1", "PR:Q13972-1", "ENSEMBL:ENSP00000405963", "ENSEMBL:ENSP00000405963.3"], "information_content": 100.0}
{"id": "UniProtKB:P61956-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ubiquitin-related modifier 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61956-1", "PR:P61956-1", "ENSEMBL:ENSP00000405965", "ENSEMBL:ENSP00000405965.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NC06-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-CoA-binding domain-containing protein 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8NC06-3", "PR:Q8NC06-3", "ENSEMBL:ENSP00000405969", "ENSEMBL:ENSP00000405969.1", "ENSEMBL:ENSP00000465484", "ENSEMBL:ENSP00000465484.1", "ENSEMBL:ENSP00000465610", "ENSEMBL:ENSP00000465610.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96RY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 140 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RY7-1", "PR:Q96RY7-1", "ENSEMBL:ENSP00000406012", "ENSEMBL:ENSP00000406012.2"], "information_content": 100.0}
{"id": "UniProtKB:O95185-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "netrin receptor UNC5C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95185-1", "PR:O95185-1", "ENSEMBL:ENSP00000406022", "ENSEMBL:ENSP00000406022.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZV89-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH2 domain-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZV89-1", "PR:Q6ZV89-1", "ENSEMBL:ENSP00000406026", "ENSEMBL:ENSP00000406026.2"], "information_content": 100.0}
{"id": "NCBIGene:9852", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPM2AIP1", "equivalent_identifiers": ["NCBIGene:9852", "ENSEMBL:ENSG00000178567", "HGNC:19735", "OMIM:607911", "UMLS:C1426372", "UniProtKB:Q7L775", "PR:Q7L775", "ENSEMBL:ENSP00000406027", "ENSEMBL:ENSP00000406027.1", "UMLS:C1436605", "MESH:C483189"], "information_content": 92.8}
{"id": "MONDO:0011717", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperinsulinism-hyperammonemia syndrome", "equivalent_identifiers": ["MONDO:0011717", "DOID:0070217", "OMIM:606762", "orphanet:35878", "UMLS:C1847555", "MESH:C538375", "MEDDRA:10077860", "MEDDRA:10077865", "NCIT:C131832", "SNOMEDCT:718106009", "medgen:376153"], "information_content": 100.0}
{"id": "UniProtKB:Q9H7Z6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone acetyltransferase KAT8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H7Z6-2", "PR:Q9H7Z6-2", "ENSEMBL:ENSP00000406037", "ENSEMBL:ENSP00000406037.2"], "information_content": 100.0}
{"id": "MONDO:0003965", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Capgras syndrome", "equivalent_identifiers": ["MONDO:0003965", "DOID:6680", "UMLS:C0006895", "MESH:D002194", "MEDDRA:10007185", "MEDDRA:10007186", "NCIT:C34446", "SNOMEDCT:44906001", "medgen:2811"], "information_content": 100.0}
{"id": "NCBIGene:114960", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSGA13", "equivalent_identifiers": ["NCBIGene:114960", "ENSEMBL:ENSG00000213265", "HGNC:12369", "UMLS:C1421197", "UniProtKB:Q96PP4", "PR:Q96PP4", "ENSEMBL:ENSP00000348996", "ENSEMBL:ENSP00000348996.3", "ENSEMBL:ENSP00000406047", "ENSEMBL:ENSP00000406047.1", "UMLS:C4307863", "MESH:C000610983"], "information_content": 95.4}
{"id": "UniProtKB:A5X5Y0-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-hydroxytryptamine receptor 3E isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:A5X5Y0-6", "PR:A5X5Y0-6", "ENSEMBL:ENSP00000406050", "ENSEMBL:ENSP00000406050.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NAT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tudor domain-containing protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NAT2-1", "PR:Q8NAT2-1", "ENSEMBL:ENSP00000406052", "ENSEMBL:ENSP00000406052.1"], "information_content": 100.0}
{"id": "UniProtKB:O95340-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform B (human)", "equivalent_identifiers": ["UniProtKB:O95340-2", "PR:O95340-2", "ENSEMBL:ENSP00000406157", "ENSEMBL:ENSP00000406157.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99873-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein arginine N-methyltransferase 1 isoform V2 (human)", "equivalent_identifiers": ["UniProtKB:Q99873-1", "PR:Q99873-1", "ENSEMBL:ENSP00000406162", "ENSEMBL:ENSP00000406162.2"], "information_content": 100.0}
{"id": "NCBIGene:647309", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GMNC", "equivalent_identifiers": ["NCBIGene:647309", "ENSEMBL:ENSG00000205835", "HGNC:40049", "OMIM:614448", "UMLS:C3280816", "UniProtKB:A6NCL1", "PR:A6NCL1", "ENSEMBL:ENSP00000406164", "ENSEMBL:ENSP00000406164.1", "UMLS:C4283873", "UMLS:C4308177", "MESH:C000609909"], "information_content": 95.4}
{"id": "UniProtKB:Q9HBA0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transient receptor potential cation channel subfamily V member 4 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q9HBA0-1", "PR:Q9HBA0-1", "ENSEMBL:ENSP00000261740", "ENSEMBL:ENSP00000261740.2", "ENSEMBL:ENSP00000406191", "ENSEMBL:ENSP00000406191.2", "ENSEMBL:ENSP00000502135", "ENSEMBL:ENSP00000502135.1"], "information_content": 100.0}
{"id": "NCBIGene:85315", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAQR8", "equivalent_identifiers": ["NCBIGene:85315", "ENSEMBL:ENSG00000170915", "HGNC:15708", "OMIM:607780", "UMLS:C1843095", "UniProtKB:B3KXW6", "UMLS:C1310289", "MESH:C440892", "UniProtKB:Q8TEZ7", "PR:Q8TEZ7", "ENSEMBL:ENSP00000353953", "ENSEMBL:ENSP00000353953.3", "ENSEMBL:ENSP00000406197", "ENSEMBL:ENSP00000406197.2"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y6I3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epsin-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6I3-1", "PR:Q9Y6I3-1", "ENSEMBL:ENSP00000406209", "ENSEMBL:ENSP00000406209.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86YT5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Na(+)/citrate cotransporter isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YT5-1", "PR:Q86YT5-1", "ENSEMBL:ENSP00000406220", "ENSEMBL:ENSP00000406220.2"], "information_content": 100.0}
{"id": "NCBIGene:2195", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAT1", "equivalent_identifiers": ["NCBIGene:2195", "ENSEMBL:ENSG00000083857", "HGNC:3595", "OMIM:600976", "UMLS:C0812278", "UniProtKB:Q14517", "PR:Q14517", "ENSEMBL:ENSP00000406229", "ENSEMBL:ENSP00000406229.2", "UMLS:C1435181", "MESH:C502403"], "information_content": 87.2}
{"id": "NCBIGene:5169", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ENPP3", "equivalent_identifiers": ["NCBIGene:5169", "ENSEMBL:ENSG00000154269", "HGNC:3358", "OMIM:602182", "UMLS:C1414409", "UniProtKB:F8W6H5", "ENSEMBL:ENSP00000350964", "ENSEMBL:ENSP00000350964.5", "UniProtKB:O14638", "PR:O14638", "ENSEMBL:ENSP00000350265", "ENSEMBL:ENSP00000350265.3", "ENSEMBL:ENSP00000406261", "ENSEMBL:ENSP00000406261.1", "UMLS:C1447996", "MESH:C427944"], "information_content": 100.0}
{"id": "UniProtKB:O15156-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and BTB domain-containing protein 7B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15156-2", "PR:O15156-2", "ENSEMBL:ENSP00000406286", "ENSEMBL:ENSP00000406286.2"], "information_content": 100.0}
{"id": "UniProtKB:O75764-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription elongation factor A protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75764-1", "PR:O75764-1", "ENSEMBL:ENSP00000406293", "ENSEMBL:ENSP00000406293.2", "ENSEMBL:ENSP00000489592", "ENSEMBL:ENSP00000489592.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96PE1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G protein-coupled receptor A2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PE1-1", "PR:Q96PE1-1", "ENSEMBL:ENSP00000406367", "ENSEMBL:ENSP00000406367.2"], "information_content": 100.0}
{"id": "UniProtKB:Q99615-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily C member 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99615-1", "PR:Q99615-1", "ENSEMBL:ENSP00000406463", "ENSEMBL:ENSP00000406463.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96Q40-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 15 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q40-5", "PR:Q96Q40-5", "ENSEMBL:ENSP00000406472", "ENSEMBL:ENSP00000406472.2"], "information_content": 100.0}
{"id": "NCBIGene:221981", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THSD7A", "equivalent_identifiers": ["NCBIGene:221981", "ENSEMBL:ENSG00000005108", "HGNC:22207", "OMIM:612249", "UMLS:C1823277", "UniProtKB:Q9UPZ6", "PR:Q9UPZ6", "ENSEMBL:ENSP00000406482", "ENSEMBL:ENSP00000406482.2", "UMLS:C2745341", "MESH:C546399"], "information_content": 89.4}
{"id": "MONDO:0001645", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "crescentic glomerulonephritis", "equivalent_identifiers": ["MONDO:0001645", "DOID:13139", "UMLS:C0403416", "MEDDRA:10011379", "NCIT:C128143", "NCIT:C35444", "SNOMEDCT:236398000", "medgen:96040", "HP:0008653"], "information_content": 95.4}
{"id": "MONDO:0005556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lupus nephritis", "equivalent_identifiers": ["MONDO:0005556", "DOID:0080162", "EFO:0005761", "UMLS:C0024143", "MESH:D008181", "MEDDRA:10025140", "MEDDRA:10029141", "MEDDRA:10029142", "MEDDRA:10040970", "MEDDRA:10089276", "NCIT:C34789", "SNOMEDCT:68815009", "medgen:6147", "icd11.foundation:1815692673", "HP:0033726"], "information_content": 84.2}
{"id": "MONDO:0017236", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rapidly progressive glomerulonephritis", "equivalent_identifiers": ["MONDO:0017236", "DOID:4776", "UMLS:C0221239", "MEDDRA:10018378", "NCIT:C35264", "SNOMEDCT:236392004", "medgen:113155", "ICD10:N01"], "information_content": 95.4}
{"id": "UniProtKB:P54277-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PMS1 protein homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P54277-1", "PR:P54277-1", "ENSEMBL:ENSP00000406490", "ENSEMBL:ENSP00000406490.3"], "information_content": 100.0}
{"id": "NCBIGene:29125", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C11orf21", "equivalent_identifiers": ["NCBIGene:29125", "ENSEMBL:ENSG00000110665", "HGNC:13231", "OMIM:611033", "UMLS:C1421892", "UniProtKB:E9PAM5", "ENSEMBL:ENSP00000406541", "ENSEMBL:ENSP00000406541.2", "UMLS:C1309747", "MESH:C417947", "UniProtKB:Q9P2W6", "PR:Q9P2W6", "ENSEMBL:ENSP00000370545", "ENSEMBL:ENSP00000370545.4"]}
{"id": "UniProtKB:Q6PIS1-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 23 member 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6PIS1-5", "PR:Q6PIS1-5", "ENSEMBL:ENSP00000406546", "ENSEMBL:ENSP00000406546.2"], "information_content": 100.0}
{"id": "MONDO:0010215", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum group F", "equivalent_identifiers": ["MONDO:0010215", "DOID:0110848", "OMIM:278760", "UMLS:C0268140", "MESH:C562592", "NCIT:C3968", "SNOMEDCT:42530008", "medgen:120612"], "information_content": 90.9}
{"id": "UniProtKB:P21675-14", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription initiation factor TFIID subunit 1 isoform h14 (human)", "equivalent_identifiers": ["UniProtKB:P21675-14", "PR:P21675-14", "ENSEMBL:ENSP00000406549", "ENSEMBL:ENSP00000406549.2"], "information_content": 100.0}
{"id": "MONDO:0019254", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inborn disorder of purine or pyrimidine metabolism", "equivalent_identifiers": ["MONDO:0019254", "DOID:653", "orphanet:79224", "UMLS:C0029595", "UMLS:C0034139", "MESH:D011686", "MEDDRA:10037546", "SNOMEDCT:238006008", "medgen:48263", "ICD9:277.2"], "information_content": 71.0}
{"id": "MONDO:0001049", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Dressler syndrome", "equivalent_identifiers": ["MONDO:0001049", "DOID:10507", "UMLS:C0152107", "MEDDRA:10013637", "MEDDRA:10013638", "MEDDRA:10036233", "MEDDRA:10036401", "SNOMEDCT:66189004", "SNOMEDCT:827164008", "medgen:508890", "icd11.foundation:1353640147", "ICD10:I24.1", "ICD9:411.0"], "information_content": 100.0}
{"id": "NCBIGene:54969", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HPF1", "equivalent_identifiers": ["NCBIGene:54969", "ENSEMBL:ENSG00000056050", "HGNC:26051", "OMIM:616614", "UMLS:C1824170", "UniProtKB:Q9NWY4", "PR:Q9NWY4", "ENSEMBL:ENSP00000406598", "ENSEMBL:ENSP00000406598.1", "UMLS:C4508548", "MESH:C000621618"], "information_content": 95.4}
{"id": "NCBIGene:116255", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MOGAT1", "equivalent_identifiers": ["NCBIGene:116255", "ENSEMBL:ENSG00000124003", "HGNC:18210", "OMIM:610268", "UMLS:C1537930", "UniProtKB:Q96PD6", "PR:Q96PD6", "ENSEMBL:ENSP00000406674", "ENSEMBL:ENSP00000406674.3"], "information_content": 95.4}
{"id": "UniProtKB:Q86UP8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription factor II-I repeat domain-containing protein 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UP8-1", "PR:Q86UP8-1", "ENSEMBL:ENSP00000406723", "ENSEMBL:ENSP00000406723.3"], "information_content": 100.0}
{"id": "MONDO:0000910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 6", "equivalent_identifiers": ["MONDO:0000910", "DOID:0110413", "OMIM:312612", "UMLS:C1839368", "MESH:C564065", "medgen:333305"], "information_content": 100.0}
{"id": "UniProtKB:P81605-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dermcidin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P81605-2", "PR:P81605-2", "ENSEMBL:ENSP00000406773", "ENSEMBL:ENSP00000406773.2"], "information_content": 100.0}
{"id": "NCBIGene:4588", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUC6", "equivalent_identifiers": ["NCBIGene:4588", "ENSEMBL:ENSG00000184956", "HGNC:7517", "OMIM:158374", "UMLS:C1417499", "UniProtKB:Q6W4X9", "PR:Q6W4X9", "ENSEMBL:ENSP00000406861", "ENSEMBL:ENSP00000406861.2", "UMLS:C1742905", "MESH:C524734"], "information_content": 89.4}
{"id": "NCBIGene:90407", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM41A", "equivalent_identifiers": ["NCBIGene:90407", "ENSEMBL:ENSG00000163900", "HGNC:30544", "UMLS:C1540013", "UniProtKB:Q96HV5", "PR:Q96HV5", "ENSEMBL:ENSP00000406885", "ENSEMBL:ENSP00000406885.1", "UMLS:C5882112", "MESH:C000729713"], "information_content": 92.8}
{"id": "UniProtKB:Q8TCT1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoethanolamine/phosphocholine phosphatase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCT1-3", "PR:Q8TCT1-3", "ENSEMBL:ENSP00000406909", "ENSEMBL:ENSP00000406909.1", "ENSEMBL:ENSP00000427694", "ENSEMBL:ENSP00000427694.1"], "information_content": 100.0}
{"id": "MONDO:0006898", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "periarthritis", "equivalent_identifiers": ["MONDO:0006898", "DOID:2964", "EFO:1001097", "UMLS:C0031037", "MESH:D010489", "MEDDRA:10034464", "SNOMEDCT:50921008", "medgen:45397"], "information_content": 100.0}
{"id": "UniProtKB:Q17RF5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "odontogenesis associated phosphoprotein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q17RF5-2", "PR:Q17RF5-2", "ENSEMBL:ENSP00000406925", "ENSEMBL:ENSP00000406925.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H857-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5'-nucleotidase domain-containing protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H857-2", "PR:Q9H857-2", "ENSEMBL:ENSP00000406933", "ENSEMBL:ENSP00000406933.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWV1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphocyte transmembrane adapter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWV1-1", "PR:Q8IWV1-1", "ENSEMBL:ENSP00000406970", "ENSEMBL:ENSP00000406970.2"], "information_content": 100.0}
{"id": "UniProtKB:P46095-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G-protein coupled receptor 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P46095-2", "PR:P46095-2", "ENSEMBL:ENSP00000406986", "ENSEMBL:ENSP00000406986.2"], "information_content": 100.0}
{"id": "NCBIGene:147686", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF418", "equivalent_identifiers": ["NCBIGene:147686", "ENSEMBL:ENSG00000196724", "HGNC:20647", "OMIM:619509", "UMLS:C1427056", "UniProtKB:B7Z1P3", "UMLS:C2354529", "MESH:C529602", "UniProtKB:B7Z993", "UniProtKB:J3KQR4", "ENSEMBL:ENSP00000407039", "ENSEMBL:ENSP00000407039.2", "UniProtKB:M0QX82", "ENSEMBL:ENSP00000468968", "ENSEMBL:ENSP00000468968.1", "UniProtKB:Q8TF45", "PR:Q8TF45", "ENSEMBL:ENSP00000379451", "ENSEMBL:ENSP00000379451.1", "ENSEMBL:ENSP00000471652", "ENSEMBL:ENSP00000471652.1", "ENSEMBL:ENSP00000483763", "ENSEMBL:ENSP00000483763.1"]}
{"id": "UniProtKB:Q9H841-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NIPA-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H841-2", "PR:Q9H841-2", "ENSEMBL:ENSP00000407087", "ENSEMBL:ENSP00000407087.2"], "information_content": 100.0}
{"id": "NCBIGene:222236", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAPEPLD", "equivalent_identifiers": ["NCBIGene:222236", "ENSEMBL:ENSG00000161048", "HGNC:21683", "OMIM:612334", "UMLS:C2239773", "UniProtKB:Q6IQ20", "PR:Q6IQ20", "ENSEMBL:ENSP00000340093", "ENSEMBL:ENSP00000340093.4", "ENSEMBL:ENSP00000392775", "ENSEMBL:ENSP00000392775.1", "ENSEMBL:ENSP00000407112", "ENSEMBL:ENSP00000407112.1", "ENSEMBL:ENSP00000412376", "ENSEMBL:ENSP00000412376.1", "ENSEMBL:ENSP00000419188", "ENSEMBL:ENSP00000419188.1", "ENSEMBL:ENSP00000481285", "ENSEMBL:ENSP00000481285.1", "ENSEMBL:ENSP00000482162", "ENSEMBL:ENSP00000482162.1", "ENSEMBL:ENSP00000487770", "ENSEMBL:ENSP00000487770.1", "ENSEMBL:ENSP00000488504", "ENSEMBL:ENSP00000488504.1", "ENSEMBL:ENSP00000488648", "ENSEMBL:ENSP00000488648.1", "UMLS:C3657366", "MESH:C581518"], "information_content": 100.0}
{"id": "UniProtKB:Q9NX95-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntabulin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NX95-1", "PR:Q9NX95-1", "ENSEMBL:ENSP00000276646", "ENSEMBL:ENSP00000276646.9", "ENSEMBL:ENSP00000386154", "ENSEMBL:ENSP00000386154.2", "ENSEMBL:ENSP00000403544", "ENSEMBL:ENSP00000403544.1", "ENSEMBL:ENSP00000404369", "ENSEMBL:ENSP00000404369.1", "ENSEMBL:ENSP00000407118", "ENSEMBL:ENSP00000407118.1", "ENSEMBL:ENSP00000434679", "ENSEMBL:ENSP00000434679.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86VK4-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 410 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q86VK4-5", "PR:Q86VK4-5", "ENSEMBL:ENSP00000407130", "ENSEMBL:ENSP00000407130.3", "ENSEMBL:ENSP00000483073", "ENSEMBL:ENSP00000483073.1"], "information_content": 100.0}
{"id": "UniProtKB:O14787-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transportin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14787-1", "PR:O14787-1", "ENSEMBL:ENSP00000407182", "ENSEMBL:ENSP00000407182.1", "ENSEMBL:ENSP00000468434", "ENSEMBL:ENSP00000468434.1"], "information_content": 100.0}
{"id": "NCBIGene:22901", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARSG", "equivalent_identifiers": ["NCBIGene:22901", "ENSEMBL:ENSG00000141337", "HGNC:24102", "OMIM:610008", "UMLS:C1825082", "UniProtKB:J9JIG6", "ENSEMBL:ENSP00000413953", "ENSEMBL:ENSP00000413953.2", "UniProtKB:Q96EG1", "PR:Q96EG1", "ENSEMBL:ENSP00000407193", "ENSEMBL:ENSP00000407193.2", "ENSEMBL:ENSP00000480910", "ENSEMBL:ENSP00000480910.1", "UMLS:C1310988", "MESH:C476553"], "information_content": 90.9}
{"id": "NCBIGene:79781", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRC11", "equivalent_identifiers": ["NCBIGene:79781", "ENSEMBL:ENSG00000132321", "HGNC:26195", "UMLS:C1537409", "UniProtKB:A0A0A0MSY6", "ENSEMBL:ENSP00000407213", "ENSEMBL:ENSP00000407213.3", "UniProtKB:B4DIF4", "UniProtKB:Q86XH1", "PR:Q86XH1"]}
{"id": "DOID:4586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial meningioma", "equivalent_identifiers": ["DOID:4586", "UMLS:C1333989", "MESH:C537443", "NCIT:C5301"], "information_content": 100.0}
{"id": "NCBIGene:729085", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GASK1A", "equivalent_identifiers": ["NCBIGene:729085", "ENSEMBL:ENSG00000144649", "HGNC:24485", "OMIM:620413", "UMLS:C1824137", "UniProtKB:Q9UFP1", "PR:Q9UFP1", "ENSEMBL:ENSP00000273146", "ENSEMBL:ENSP00000273146.2", "ENSEMBL:ENSP00000407301", "ENSEMBL:ENSP00000407301.2", "UMLS:C5391701", "MESH:C000707002"], "information_content": 90.9}
{"id": "MONDO:0013225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital generalized lipodystrophy type 4", "equivalent_identifiers": ["MONDO:0013225", "DOID:0111138", "OMIM:613327", "UMLS:C2750069", "MESH:C567642", "SNOMEDCT:1156814008", "medgen:412871"], "information_content": 100.0}
{"id": "NCBIGene:10969", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EBNA1BP2", "equivalent_identifiers": ["NCBIGene:10969", "ENSEMBL:ENSG00000117395", "HGNC:15531", "OMIM:614443", "UMLS:C1456382", "UniProtKB:H7C2Q8", "ENSEMBL:ENSP00000407323", "ENSEMBL:ENSP00000407323.2", "UMLS:C0968615", "MESH:C432687", "UniProtKB:Q6IB29", "UniProtKB:Q99848", "PR:Q99848", "ENSEMBL:ENSP00000236051", "ENSEMBL:ENSP00000236051.2"]}
{"id": "NCBIGene:4709", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFB3", "equivalent_identifiers": ["NCBIGene:4709", "ENSEMBL:ENSG00000119013", "HGNC:7698", "OMIM:603839", "UMLS:C1417635", "UniProtKB:O43676", "PR:O43676", "ENSEMBL:ENSP00000237889", "ENSEMBL:ENSP00000237889.4", "ENSEMBL:ENSP00000401834", "ENSEMBL:ENSP00000401834.2", "ENSEMBL:ENSP00000407336", "ENSEMBL:ENSP00000407336.1", "ENSEMBL:ENSP00000410600", "ENSEMBL:ENSP00000410600.1", "ENSEMBL:ENSP00000507925", "ENSEMBL:ENSP00000507925.1", "ENSEMBL:ENSP00000508132", "ENSEMBL:ENSP00000508132.1", "ENSEMBL:ENSP00000508208", "ENSEMBL:ENSP00000508208.1"], "information_content": 92.8}
{"id": "UniProtKB:Q8N9Z9-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lamin tail domain-containing protein 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9Z9-5", "PR:Q8N9Z9-5", "ENSEMBL:ENSP00000407353", "ENSEMBL:ENSP00000407353.2"], "information_content": 100.0}
{"id": "NCBIGene:4589", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUC7", "equivalent_identifiers": ["NCBIGene:4589", "ENSEMBL:ENSG00000171195", "HGNC:7518", "OMIM:158375", "UMLS:C1417500", "UniProtKB:Q8TAX7", "PR:Q8TAX7", "ENSEMBL:ENSP00000302021", "ENSEMBL:ENSP00000302021.5", "ENSEMBL:ENSP00000400585", "ENSEMBL:ENSP00000400585.1", "ENSEMBL:ENSP00000407422", "ENSEMBL:ENSP00000407422.1", "UMLS:C0220181", "MESH:C083238"], "information_content": 92.8}
{"id": "UniProtKB:Q86Z02-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeodomain-interacting protein kinase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86Z02-1", "PR:Q86Z02-1", "ENSEMBL:ENSP00000358571", "ENSEMBL:ENSP00000358571.1", "ENSEMBL:ENSP00000407442", "ENSEMBL:ENSP00000407442.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3U1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein unc-45 homolog A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3U1-1", "PR:Q9H3U1-1", "ENSEMBL:ENSP00000407487", "ENSEMBL:ENSP00000407487.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IY17-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "patatin-like phospholipase domain-containing protein 6 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY17-4", "PR:Q8IY17-4", "ENSEMBL:ENSP00000407509", "ENSEMBL:ENSP00000407509.2"], "information_content": 100.0}
{"id": "NCBIGene:283008", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUTM2E", "equivalent_identifiers": ["NCBIGene:283008", "ENSEMBL:ENSG00000228570", "HGNC:23448", "UMLS:C3541492", "UniProtKB:B1AL46", "PR:B1AL46", "ENSEMBL:ENSP00000407521", "ENSEMBL:ENSP00000407521.2"], "information_content": 100.0}
{"id": "NCBIGene:9278", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB22", "equivalent_identifiers": ["NCBIGene:9278", "ENSEMBL:ENSG00000236104", "HGNC:13085", "OMIM:611439", "UMLS:C1823902", "UniProtKB:A0A1U9X8V3", "UMLS:C1313630", "MESH:C484736", "UniProtKB:O15209", "PR:O15209", "ENSEMBL:ENSP00000372683", "ENSEMBL:ENSP00000372683.4", "ENSEMBL:ENSP00000388191", "ENSEMBL:ENSP00000388191.2", "ENSEMBL:ENSP00000393514", "ENSEMBL:ENSP00000393514.2", "ENSEMBL:ENSP00000396292", "ENSEMBL:ENSP00000396292.2", "ENSEMBL:ENSP00000404403", "ENSEMBL:ENSP00000404403.1", "ENSEMBL:ENSP00000407545", "ENSEMBL:ENSP00000407545.2"], "information_content": 100.0}
{"id": "UniProtKB:P36544-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal acetylcholine receptor subunit alpha-7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P36544-2", "PR:P36544-2", "ENSEMBL:ENSP00000407546", "ENSEMBL:ENSP00000407546.3", "ENSEMBL:ENSP00000502560", "ENSEMBL:ENSP00000502560.1"], "information_content": 100.0}
{"id": "UniProtKB:O60861-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "growth arrest-specific protein 7 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O60861-3", "PR:O60861-3", "ENSEMBL:ENSP00000407552", "ENSEMBL:ENSP00000407552.2"], "information_content": 100.0}
{"id": "NCBIGene:9673", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A44", "equivalent_identifiers": ["NCBIGene:9673", "ENSEMBL:ENSG00000160785", "HGNC:29036", "OMIM:610824", "UMLS:C1822753", "UniProtKB:E9PGQ0", "ENSEMBL:ENSP00000407560", "ENSEMBL:ENSP00000407560.3", "UMLS:C5391472", "MESH:C000705508", "UniProtKB:Q96H78", "PR:Q96H78", "ENSEMBL:ENSP00000352497", "ENSEMBL:ENSP00000352497.4"]}
{"id": "UniProtKB:P01112-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GTPase HRas isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P01112-1", "PR:P01112-1", "ENSEMBL:ENSP00000309845", "ENSEMBL:ENSP00000309845.7", "ENSEMBL:ENSP00000380723", "ENSEMBL:ENSP00000380723.2", "ENSEMBL:ENSP00000407586", "ENSEMBL:ENSP00000407586.1", "ENSEMBL:ENSP00000480686", "ENSEMBL:ENSP00000480686.1", "ENSEMBL:ENSP00000482366", "ENSEMBL:ENSP00000482366.1", "ENSEMBL:ENSP00000488757", "ENSEMBL:ENSP00000488757.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCB7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA N(3)-cytidine methyltransferase METTL6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCB7-1", "PR:Q8TCB7-1", "ENSEMBL:ENSP00000373300", "ENSEMBL:ENSP00000373300.3", "ENSEMBL:ENSP00000407613", "ENSEMBL:ENSP00000407613.1"], "information_content": 100.0}
{"id": "UniProtKB:P22105-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tenascin-X isoform XB-short (human)", "equivalent_identifiers": ["UniProtKB:P22105-2", "PR:P22105-2", "ENSEMBL:ENSP00000407685", "ENSEMBL:ENSP00000407685.1"], "information_content": 100.0}
{"id": "UniProtKB:O00534-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "von Willebrand factor A domain-containing protein 5A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00534-1", "PR:O00534-1", "ENSEMBL:ENSP00000376504", "ENSEMBL:ENSP00000376504.1", "ENSEMBL:ENSP00000407726", "ENSEMBL:ENSP00000407726.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5T0U0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 122 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T0U0-1", "PR:Q5T0U0-1", "ENSEMBL:ENSP00000407763", "ENSEMBL:ENSP00000407763.2"], "information_content": 100.0}
{"id": "MONDO:0006940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "radial nerve lesion", "equivalent_identifiers": ["MONDO:0006940", "DOID:12170", "EFO:1001143", "UMLS:C0154744", "MEDDRA:10024250", "MEDDRA:10037750", "MEDDRA:10061477", "SNOMEDCT:193137006", "medgen:102317", "ICD10:G56.3", "ICD9:354.3"], "information_content": 100.0}
{"id": "MONDO:0001458", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ulnar nerve lesion", "equivalent_identifiers": ["MONDO:0001458", "DOID:12168", "UMLS:C1288279", "MEDDRA:10024252", "MEDDRA:10045379", "SNOMEDCT:367475009", "medgen:710723", "ICD10:G56.2", "ICD9:354.2"], "information_content": 100.0}
{"id": "UniProtKB:P62068-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 46 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62068-1", "PR:P62068-1", "ENSEMBL:ENSP00000407818", "ENSEMBL:ENSP00000407818.2"], "information_content": 100.0}
{"id": "NCBIGene:27255", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNTN6", "equivalent_identifiers": ["NCBIGene:27255", "ENSEMBL:ENSG00000134115", "HGNC:2176", "OMIM:607220", "UMLS:C1413564", "UniProtKB:B4DGV0", "UMLS:C0672404", "MESH:C111104", "UniProtKB:Q9UQ52", "PR:Q9UQ52", "ENSEMBL:ENSP00000341882", "ENSEMBL:ENSP00000341882.2", "ENSEMBL:ENSP00000407822", "ENSEMBL:ENSP00000407822.2"], "information_content": 95.4}
{"id": "NCBIGene:54729", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NKX1-1", "equivalent_identifiers": ["NCBIGene:54729", "ENSEMBL:ENSG00000235608", "HGNC:24975", "OMIM:617869", "UMLS:C1826427", "UniProtKB:Q15270", "PR:Q15270", "ENSEMBL:ENSP00000407978", "ENSEMBL:ENSP00000407978.2"], "information_content": 100.0}
{"id": "UniProtKB:Q86Y07-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase VRK2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86Y07-1", "PR:Q86Y07-1", "ENSEMBL:ENSP00000342381", "ENSEMBL:ENSP00000342381.4", "ENSEMBL:ENSP00000408002", "ENSEMBL:ENSP00000408002.2"], "information_content": 100.0}
{"id": "UniProtKB:Q15599-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15599-1", "PR:Q15599-1", "ENSEMBL:ENSP00000408005", "ENSEMBL:ENSP00000408005.2"], "information_content": 100.0}
{"id": "NCBIGene:2203", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBP1", "equivalent_identifiers": ["NCBIGene:2203", "ENSEMBL:ENSG00000165140", "HGNC:3606", "OMIM:611570", "UMLS:C1414544", "UniProtKB:P09467", "PR:P09467", "ENSEMBL:ENSP00000364475", "ENSEMBL:ENSP00000364475.5", "ENSEMBL:ENSP00000408025", "ENSEMBL:ENSP00000408025.1", "UMLS:C3889472", "UMLS:C5197049", "MESH:C000630809", "UniProtKB:Q2TU34"], "information_content": 88.2}
{"id": "NCBIGene:55889", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOLGA6B", "equivalent_identifiers": ["NCBIGene:55889", "ENSEMBL:ENSG00000215186", "HGNC:32205", "UMLS:C2239505", "UniProtKB:A6NDN3", "PR:A6NDN3", "ENSEMBL:ENSP00000408132", "ENSEMBL:ENSP00000408132.3"], "information_content": 100.0}
{"id": "NCBIGene:3115", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLA-DPB1", "equivalent_identifiers": ["NCBIGene:3115", "ENSEMBL:ENSG00000223865", "HGNC:4940", "OMIM:142858", "UMLS:C1333900", "UniProtKB:H0Y7G7", "ENSEMBL:ENSP00000412654", "ENSEMBL:ENSP00000412654.2", "UniProtKB:I4EC15", "UniProtKB:P04440", "PR:P04440", "ENSEMBL:ENSP00000382422", "ENSEMBL:ENSP00000382422.2", "ENSEMBL:ENSP00000389288", "ENSEMBL:ENSP00000389288.2", "ENSEMBL:ENSP00000396095", "ENSEMBL:ENSP00000396095.2", "ENSEMBL:ENSP00000407674", "ENSEMBL:ENSP00000407674.2", "ENSEMBL:ENSP00000408146", "ENSEMBL:ENSP00000408146.2", "ENSEMBL:ENSP00000414196", "ENSEMBL:ENSP00000414196.2", "UMLS:C0122007", "MESH:C071170"], "information_content": 84.8}
{"id": "NCBIGene:2846", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LPAR4", "equivalent_identifiers": ["NCBIGene:2846", "ENSEMBL:ENSG00000147145", "HGNC:4478", "OMIM:300086", "UMLS:C1415216", "UniProtKB:Q99677", "PR:Q99677", "ENSEMBL:ENSP00000408205", "ENSEMBL:ENSP00000408205.2", "ENSEMBL:ENSP00000478261", "ENSEMBL:ENSP00000478261.1", "UMLS:C0218422", "MESH:C082320"], "information_content": 92.8}
{"id": "NCBIGene:90673", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R3E", "equivalent_identifiers": ["NCBIGene:90673", "ENSEMBL:ENSG00000235194", "HGNC:14943", "OMIM:619540", "UMLS:C1423074", "UniProtKB:Q9H7J1", "PR:Q9H7J1", "ENSEMBL:ENSP00000408288", "ENSEMBL:ENSP00000408288.3"], "information_content": 100.0}
{"id": "NCBIGene:22954", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM32", "equivalent_identifiers": ["NCBIGene:22954", "ENSEMBL:ENSG00000119401", "HGNC:16380", "OMIM:602290", "UMLS:C1424232", "UniProtKB:Q13049", "PR:Q13049", "ENSEMBL:ENSP00000363095", "ENSEMBL:ENSP00000363095.1", "ENSEMBL:ENSP00000408292", "ENSEMBL:ENSP00000408292.1", "UMLS:C1437967", "MESH:C094027"], "information_content": 92.8}
{"id": "UniProtKB:P40937-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "replication factor C subunit 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P40937-1", "PR:P40937-1", "ENSEMBL:ENSP00000408295", "ENSEMBL:ENSP00000408295.2"], "information_content": 100.0}
{"id": "NCBIGene:84106", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAM1", "equivalent_identifiers": ["NCBIGene:84106", "ENSEMBL:ENSG00000133246", "HGNC:30091", "OMIM:606466", "UMLS:C1826672", "UniProtKB:Q96QH2", "PR:Q96QH2", "ENSEMBL:ENSP00000408342", "ENSEMBL:ENSP00000408342.2", "UMLS:C1310019", "MESH:C430907"], "information_content": 100.0}
{"id": "NCBIGene:54921", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHTF8", "equivalent_identifiers": ["NCBIGene:54921", "ENSEMBL:ENSG00000168802", "HGNC:24353", "OMIM:613202", "UMLS:C2681361", "UniProtKB:P0CG13", "PR:P0CG13", "ENSEMBL:ENSP00000381290", "ENSEMBL:ENSP00000381290.2", "ENSEMBL:ENSP00000408367", "ENSEMBL:ENSP00000408367.3", "UMLS:C1311621", "MESH:C477291"], "information_content": 95.4}
{"id": "UniProtKB:P13473-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosome-associated membrane glycoprotein 2 isoform hLAMP-2C (human)", "equivalent_identifiers": ["UniProtKB:P13473-3", "PR:P13473-3", "ENSEMBL:ENSP00000408411", "ENSEMBL:ENSP00000408411.2"], "information_content": 100.0}
{"id": "UniProtKB:P29218-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol monophosphatase 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P29218-3", "PR:P29218-3", "ENSEMBL:ENSP00000408526", "ENSEMBL:ENSP00000408526.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N801-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein STPG4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N801-1", "PR:Q8N801-1", "ENSEMBL:ENSP00000408527", "ENSEMBL:ENSP00000408527.2"], "information_content": 100.0}
{"id": "MONDO:0000299", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thelaziasis", "equivalent_identifiers": ["MONDO:0000299", "DOID:0050261", "UMLS:C0344058", "SNOMEDCT:46477004", "medgen:576041", "icd11.foundation:1803398353"], "information_content": 100.0}
{"id": "UniProtKB:Q14C87-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 132D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14C87-1", "PR:Q14C87-1", "ENSEMBL:ENSP00000408581", "ENSEMBL:ENSP00000408581.2"], "information_content": 100.0}
{"id": "MONDO:0001942", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized anxiety disorder", "equivalent_identifiers": ["MONDO:0001942", "DOID:14320", "EFO:1001892", "UMLS:C0270549", "MESH:D000098647", "MEDDRA:10018075", "MEDDRA:10018105", "NCIT:C92622", "SNOMEDCT:21897009", "medgen:452363", "ICD10:F41.1", "ICD9:300.02"], "information_content": 100.0}
{"id": "UniProtKB:A6NDY0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "embryonic polyadenylate-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NDY0-1", "PR:A6NDY0-1", "ENSEMBL:ENSP00000408598", "ENSEMBL:ENSP00000408598.2"], "information_content": 100.0}
{"id": "MONDO:0016028", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "erythromelalgia", "equivalent_identifiers": ["MONDO:0016028", "DOID:9240", "UMLS:C0014804", "MESH:D004916", "MEDDRA:10015247", "MEDDRA:10015284", "MEDDRA:10077100", "NCIT:C34593", "SNOMEDCT:37151006", "medgen:8687", "icd11.foundation:838760425", "ICD10:I73.81", "ICD9:443.82", "HP:0032147"], "information_content": 92.8}
{"id": "UniProtKB:Q9UKV0-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone deacetylase 9 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKV0-7", "PR:Q9UKV0-7", "ENSEMBL:ENSP00000408617", "ENSEMBL:ENSP00000408617.2", "ENSEMBL:ENSP00000509161", "ENSEMBL:ENSP00000509161.1"], "information_content": 100.0}
{"id": "NCBIGene:5578", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRKCA", "equivalent_identifiers": ["NCBIGene:5578", "ENSEMBL:ENSG00000154229", "HGNC:9393", "OMIM:176960", "UMLS:C1335261", "UniProtKB:J3KRN5", "ENSEMBL:ENSP00000462087", "ENSEMBL:ENSP00000462087.1", "UniProtKB:L7RSM7", "UniProtKB:P17252", "PR:P17252", "ENSEMBL:ENSP00000408695", "ENSEMBL:ENSP00000408695.3", "UMLS:C1565919", "MESH:C496628", "UniProtKB:Q7Z727"], "information_content": 89.4}
{"id": "NCBIGene:389643", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUGGC", "equivalent_identifiers": ["NCBIGene:389643", "ENSEMBL:ENSG00000189233", "HGNC:33550", "OMIM:619088", "UMLS:C2240287", "UniProtKB:Q68CJ6", "PR:Q68CJ6", "ENSEMBL:ENSP00000408697", "ENSEMBL:ENSP00000408697.2", "UMLS:C2744577", "MESH:C545443"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXZ3-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor Sp8 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXZ3-4", "PR:Q8IXZ3-4", "ENSEMBL:ENSP00000408792", "ENSEMBL:ENSP00000408792.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13561-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynactin subunit 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13561-2", "PR:Q13561-2", "ENSEMBL:ENSP00000408910", "ENSEMBL:ENSP00000408910.3"], "information_content": 100.0}
{"id": "NCBIGene:3798", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KIF5A", "equivalent_identifiers": ["NCBIGene:3798", "ENSEMBL:ENSG00000155980", "HGNC:6323", "OMIM:602821", "UMLS:C1416638", "UniProtKB:J3KNA1", "ENSEMBL:ENSP00000286452", "ENSEMBL:ENSP00000286452.5", "UniProtKB:Q12840", "PR:Q12840", "ENSEMBL:ENSP00000408979", "ENSEMBL:ENSP00000408979.2", "UMLS:C1569075", "MESH:C500506"], "information_content": 95.4}
{"id": "UniProtKB:P39905-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glial cell line-derived neurotrophic factor isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P39905-3", "PR:P39905-3", "ENSEMBL:ENSP00000409007", "ENSEMBL:ENSP00000409007.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3YBR2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transforming growth factor beta regulator 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3YBR2-1", "PR:Q3YBR2-1", "ENSEMBL:ENSP00000409016", "ENSEMBL:ENSP00000409016.3"], "information_content": 100.0}
{"id": "NCBIGene:100128927", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB42", "equivalent_identifiers": ["NCBIGene:100128927", "ENSEMBL:ENSG00000179627", "HGNC:32550", "OMIM:613915", "UMLS:C1823908", "UniProtKB:B2RXF5", "PR:B2RXF5", "ENSEMBL:ENSP00000409107", "ENSEMBL:ENSP00000409107.2", "ENSEMBL:ENSP00000450673", "ENSEMBL:ENSP00000450673.1", "UMLS:C3181668", "MESH:C558643"], "information_content": 100.0}
{"id": "UniProtKB:Q4KMQ2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anoctamin-6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q4KMQ2-2", "PR:Q4KMQ2-2", "ENSEMBL:ENSP00000409126", "ENSEMBL:ENSP00000409126.3"], "information_content": 100.0}
{"id": "UniProtKB:A5PLN9-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trafficking protein particle complex subunit 13 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:A5PLN9-5", "PR:A5PLN9-5", "ENSEMBL:ENSP00000409231", "ENSEMBL:ENSP00000409231.2"], "information_content": 100.0}
{"id": "UniProtKB:Q01804-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "OTU domain-containing protein 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q01804-3", "PR:Q01804-3", "ENSEMBL:ENSP00000409279", "ENSEMBL:ENSP00000409279.2"], "information_content": 100.0}
{"id": "NCBIGene:92400", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBM18", "equivalent_identifiers": ["NCBIGene:92400", "ENSEMBL:ENSG00000119446", "HGNC:28413", "UMLS:C1428706", "UniProtKB:Q96H35", "PR:Q96H35", "ENSEMBL:ENSP00000409315", "ENSEMBL:ENSP00000409315.2"], "information_content": 95.4}
{"id": "MONDO:0001202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prostatic cyst", "equivalent_identifiers": ["MONDO:0001202", "DOID:11133", "UMLS:C1443972", "MEDDRA:10067640", "SNOMEDCT:409658007", "medgen:731233", "ICD10:N42.83", "ICD9:600.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSE2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytokine-inducible SH2-containing protein isoform h1C (human)", "equivalent_identifiers": ["UniProtKB:Q9NSE2-3", "PR:Q9NSE2-3", "ENSEMBL:ENSP00000409346", "ENSEMBL:ENSP00000409346.2"], "information_content": 100.0}
{"id": "NCBIGene:401067", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IQCF3", "equivalent_identifiers": ["NCBIGene:401067", "ENSEMBL:ENSG00000229972", "HGNC:31816", "UMLS:C1537416", "UniProtKB:P0C7M6", "PR:P0C7M6", "ENSEMBL:ENSP00000401767", "ENSEMBL:ENSP00000401767.1", "ENSEMBL:ENSP00000402012", "ENSEMBL:ENSP00000402012.2", "ENSEMBL:ENSP00000409373", "ENSEMBL:ENSP00000409373.2"], "information_content": 100.0}
{"id": "NCBIGene:1132", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHRM4", "equivalent_identifiers": ["NCBIGene:1132", "ENSEMBL:ENSG00000180720", "HGNC:1953", "OMIM:118495", "UMLS:C1332760", "UniProtKB:P08173", "PR:P08173", "ENSEMBL:ENSP00000409378", "ENSEMBL:ENSP00000409378.2", "ENSEMBL:ENSP00000507561", "ENSEMBL:ENSP00000507561.1", "UMLS:C1334833", "MESH:C000597933"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSW2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EF-hand calcium-binding domain-containing protein 4B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSW2-2", "PR:Q9BSW2-2", "ENSEMBL:ENSP00000409382", "ENSEMBL:ENSP00000409382.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZV65-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM47E isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZV65-3", "PR:Q6ZV65-3", "ENSEMBL:ENSP00000409423", "ENSEMBL:ENSP00000409423.2"], "information_content": 100.0}
{"id": "NCBIGene:283337", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF740", "equivalent_identifiers": ["NCBIGene:283337", "ENSEMBL:ENSG00000139651", "HGNC:27465", "OMIM:620976", "UMLS:C1824031", "UniProtKB:Q8NDX6", "PR:Q8NDX6", "ENSEMBL:ENSP00000409463", "ENSEMBL:ENSP00000409463.2"], "information_content": 95.4}
{"id": "NCBIGene:388849", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC188", "equivalent_identifiers": ["NCBIGene:388849", "ENSEMBL:ENSG00000234409", "HGNC:51899", "UMLS:C4085854", "UniProtKB:H7C350", "PR:H7C350", "ENSEMBL:ENSP00000409542", "ENSEMBL:ENSP00000409542.2"], "information_content": 100.0}
{"id": "NCBIGene:1364", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN4", "equivalent_identifiers": ["NCBIGene:1364", "ENSEMBL:ENSG00000189143", "HGNC:2046", "OMIM:602909", "UMLS:C1413474", "UniProtKB:O14493", "PR:O14493", "ENSEMBL:ENSP00000342445", "ENSEMBL:ENSP00000342445.2", "ENSEMBL:ENSP00000388639", "ENSEMBL:ENSP00000388639.1", "ENSEMBL:ENSP00000409544", "ENSEMBL:ENSP00000409544.1", "UMLS:C1259368", "MESH:C568157", "UniProtKB:Q75L80"], "information_content": 95.4}
{"id": "UniProtKB:Q15011-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15011-1", "PR:Q15011-1", "ENSEMBL:ENSP00000409555", "ENSEMBL:ENSP00000409555.2"], "information_content": 100.0}
{"id": "UniProtKB:P49407-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-arrestin-1 isoform 1A (human)", "equivalent_identifiers": ["UniProtKB:P49407-1", "PR:P49407-1", "ENSEMBL:ENSP00000409581", "ENSEMBL:ENSP00000409581.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5T4F4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protrudin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5T4F4-3", "PR:Q5T4F4-3", "ENSEMBL:ENSP00000409594", "ENSEMBL:ENSP00000409594.2"], "information_content": 100.0}
{"id": "UniProtKB:P55854-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ubiquitin-related modifier 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P55854-2", "PR:P55854-2", "ENSEMBL:ENSP00000409666", "ENSEMBL:ENSP00000409666.2"], "information_content": 100.0}
{"id": "NCBIGene:8867", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SYNJ1", "equivalent_identifiers": ["NCBIGene:8867", "ENSEMBL:ENSG00000159082", "HGNC:11503", "OMIM:604297", "UMLS:C1420552", "UniProtKB:A0A0D9SGJ6", "ENSEMBL:ENSP00000487560", "ENSEMBL:ENSP00000487560.1", "UniProtKB:B9EGN3", "UniProtKB:C9JFZ1", "ENSEMBL:ENSP00000371939", "ENSEMBL:ENSP00000371939.2", "UniProtKB:J3KQV8", "ENSEMBL:ENSP00000409667", "ENSEMBL:ENSP00000409667.2", "UniProtKB:O43426", "PR:O43426", "UMLS:C2002111", "UniProtKB:Q05CZ1"]}
{"id": "UniProtKB:Q9H633-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribonuclease P protein subunit p21 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9H633-4", "PR:Q9H633-4", "ENSEMBL:ENSP00000405834", "ENSEMBL:ENSP00000405834.2", "ENSEMBL:ENSP00000409193", "ENSEMBL:ENSP00000409193.2", "ENSEMBL:ENSP00000409799", "ENSEMBL:ENSP00000409799.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96B96-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lipid droplet assembly factor 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96B96-2", "PR:Q96B96-2", "ENSEMBL:ENSP00000409879", "ENSEMBL:ENSP00000409879.2"], "information_content": 100.0}
{"id": "NCBIGene:54532", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP53", "equivalent_identifiers": ["NCBIGene:54532", "ENSEMBL:ENSG00000145390", "HGNC:29255", "OMIM:617431", "UMLS:C1428821", "UniProtKB:A0A8J9FKG6", "ENSEMBL:ENSP00000274030", "ENSEMBL:ENSP00000274030.6", "UMLS:C3711834", "MESH:C579192", "UniProtKB:Q70EK8", "PR:Q70EK8", "ENSEMBL:ENSP00000409906", "ENSEMBL:ENSP00000409906.1", "ENSEMBL:ENSP00000509606", "ENSEMBL:ENSP00000509606.1", "UniProtKB:Q9H9I0"], "information_content": 100.0}
{"id": "UniProtKB:B3KSP9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B3KSP9_HUMAN Alanyl-tRNA editing protein Aarsd1 (trembl)", "equivalent_identifiers": ["UniProtKB:B3KSP9", "ENSEMBL:ENSP00000386621", "ENSEMBL:ENSP00000386621.2", "ENSEMBL:ENSP00000409924", "ENSEMBL:ENSP00000409924.2"]}
{"id": "UniProtKB:Q53TS8-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cation channel sperm-associated targeting subunit tau isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53TS8-4", "PR:Q53TS8-4", "ENSEMBL:ENSP00000409937", "ENSEMBL:ENSP00000409937.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N1B4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 52 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1B4-1", "PR:Q8N1B4-1", "ENSEMBL:ENSP00000372697", "ENSEMBL:ENSP00000372697.4", "ENSEMBL:ENSP00000390831", "ENSEMBL:ENSP00000390831.2", "ENSEMBL:ENSP00000391197", "ENSEMBL:ENSP00000391197.2", "ENSEMBL:ENSP00000404016", "ENSEMBL:ENSP00000404016.2", "ENSEMBL:ENSP00000406988", "ENSEMBL:ENSP00000406988.2", "ENSEMBL:ENSP00000409952", "ENSEMBL:ENSP00000409952.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2B7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 97 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2B7-1", "PR:Q9P2B7-1", "ENSEMBL:ENSP00000409964", "ENSEMBL:ENSP00000409964.2"], "information_content": 100.0}
{"id": "NCBIGene:23403", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXO46", "equivalent_identifiers": ["NCBIGene:23403", "ENSEMBL:ENSG00000177051", "HGNC:25069", "OMIM:609117", "UMLS:C1539500", "UniProtKB:Q6PJ61", "PR:Q6PJ61", "ENSEMBL:ENSP00000410007", "ENSEMBL:ENSP00000410007.1"], "information_content": 92.8}
{"id": "NCBIGene:644844", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHGR1", "equivalent_identifiers": ["NCBIGene:644844", "ENSEMBL:ENSG00000233041", "HGNC:37226", "UMLS:C2828417", "UniProtKB:A0A1L2EC20", "UMLS:C4742263", "MESH:C000627892", "UniProtKB:C9JFL3", "PR:C9JFL3", "ENSEMBL:ENSP00000410024", "ENSEMBL:ENSP00000410024.2"], "information_content": 100.0}
{"id": "UniProtKB:Q1XH10-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SKI/DACH domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q1XH10-1", "PR:Q1XH10-1", "ENSEMBL:ENSP00000410041", "ENSEMBL:ENSP00000410041.2"], "information_content": 100.0}
{"id": "UniProtKB:O95696-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain-containing protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O95696-2", "PR:O95696-2", "ENSEMBL:ENSP00000385858", "ENSEMBL:ENSP00000385858.1", "ENSEMBL:ENSP00000410042", "ENSEMBL:ENSP00000410042.3"], "information_content": 100.0}
{"id": "UniProtKB:A0A8C8L741", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A8C8L741_HUMAN Eukaryotic translation elongation factor 1 delta (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A8C8L741", "ENSEMBL:ENSP00000410059", "ENSEMBL:ENSP00000410059.3"]}
{"id": "UniProtKB:Q9HBM0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vezatin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBM0-1", "PR:Q9HBM0-1", "ENSEMBL:ENSP00000410083", "ENSEMBL:ENSP00000410083.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N961-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and BTB/POZ domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N961-1", "PR:Q8N961-1", "ENSEMBL:ENSP00000410157", "ENSEMBL:ENSP00000410157.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5TCS8-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenylate kinase 9 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q5TCS8-4", "PR:Q5TCS8-4", "ENSEMBL:ENSP00000410186", "ENSEMBL:ENSP00000410186.2"], "information_content": 100.0}
{"id": "MONDO:0018940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome", "equivalent_identifiers": ["MONDO:0018940", "DOID:3635", "OMIM.PS:601462", "orphanet:590", "UMLS:C0751882", "MESH:D020294", "MEDDRA:10083942", "NCIT:C84647", "SNOMEDCT:230672006", "medgen:155650", "icd11.foundation:1515367530"], "information_content": 76.2}
{"id": "UniProtKB:Q8NA72-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein POC5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NA72-1", "PR:Q8NA72-1", "ENSEMBL:ENSP00000410216", "ENSEMBL:ENSP00000410216.2"], "information_content": 100.0}
{"id": "NCBIGene:10644", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGF2BP2", "equivalent_identifiers": ["NCBIGene:10644", "ENSEMBL:ENSG00000073792", "HGNC:28867", "OMIM:608289", "UMLS:C1825577", "UniProtKB:B3FTN5", "UniProtKB:B4DKT5", "UniProtKB:F8W930", "ENSEMBL:ENSP00000410242", "ENSEMBL:ENSP00000410242.2", "UniProtKB:Q9Y6M1", "PR:Q9Y6M1", "UMLS:C1447796", "MESH:C498779"]}
{"id": "UniProtKB:Q3YBM2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 176B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3YBM2-1", "PR:Q3YBM2-1", "ENSEMBL:ENSP00000318409", "ENSEMBL:ENSP00000318409.5", "ENSEMBL:ENSP00000397810", "ENSEMBL:ENSP00000397810.2", "ENSEMBL:ENSP00000410269", "ENSEMBL:ENSP00000410269.2", "ENSEMBL:ENSP00000419258", "ENSEMBL:ENSP00000419258.1"], "information_content": 100.0}
{"id": "UniProtKB:P21802-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibroblast growth factor receptor 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P21802-3", "PR:P21802-3", "ENSEMBL:ENSP00000410294", "ENSEMBL:ENSP00000410294.2"], "information_content": 83.6}
{"id": "UniProtKB:P54750-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P54750-4", "PR:P54750-4", "ENSEMBL:ENSP00000410309", "ENSEMBL:ENSP00000410309.1", "ENSEMBL:ENSP00000512257", "ENSEMBL:ENSP00000512257.1"], "information_content": 100.0}
{"id": "UniProtKB:O96008-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial import receptor subunit TOM40 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O96008-1", "PR:O96008-1", "ENSEMBL:ENSP00000252487", "ENSEMBL:ENSP00000252487.4", "ENSEMBL:ENSP00000385184", "ENSEMBL:ENSP00000385184.2", "ENSEMBL:ENSP00000410339", "ENSEMBL:ENSP00000410339.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BQ75-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein CMSS1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQ75-1", "PR:Q9BQ75-1", "ENSEMBL:ENSP00000410396", "ENSEMBL:ENSP00000410396.2"], "information_content": 100.0}
{"id": "UniProtKB:P45985-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity mitogen-activated protein kinase kinase 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P45985-2", "PR:P45985-2", "ENSEMBL:ENSP00000410402", "ENSEMBL:ENSP00000410402.3"], "information_content": 100.0}
{"id": "NCBIGene:79101", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAF1D", "equivalent_identifiers": ["NCBIGene:79101", "ENSEMBL:ENSG00000166012", "HGNC:28759", "OMIM:612823", "UMLS:C1825640", "UniProtKB:Q9H5J8", "PR:Q9H5J8", "ENSEMBL:ENSP00000314971", "ENSEMBL:ENSP00000314971.2", "ENSEMBL:ENSP00000410409", "ENSEMBL:ENSP00000410409.2", "ENSEMBL:ENSP00000435087", "ENSEMBL:ENSP00000435087.1", "UMLS:C1958488", "MESH:C521196"], "information_content": 100.0}
{"id": "NCBIGene:7726", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM26", "equivalent_identifiers": ["NCBIGene:7726", "ENSEMBL:ENSG00000234127", "HGNC:12962", "OMIM:600830", "UMLS:C1421661", "UniProtKB:A0A024RCP3", "UMLS:C1956699", "MESH:C519439", "UniProtKB:Q12899", "PR:Q12899", "ENSEMBL:ENSP00000331131", "ENSEMBL:ENSP00000331131.5", "ENSEMBL:ENSP00000373102", "ENSEMBL:ENSP00000373102.2", "ENSEMBL:ENSP00000379806", "ENSEMBL:ENSP00000379806.1", "ENSEMBL:ENSP00000389203", "ENSEMBL:ENSP00000389203.2", "ENSEMBL:ENSP00000390258", "ENSEMBL:ENSP00000390258.1", "ENSEMBL:ENSP00000391879", "ENSEMBL:ENSP00000391879.1", "ENSEMBL:ENSP00000392805", "ENSEMBL:ENSP00000392805.2", "ENSEMBL:ENSP00000393011", "ENSEMBL:ENSP00000393011.1", "ENSEMBL:ENSP00000394371", "ENSEMBL:ENSP00000394371.1", "ENSEMBL:ENSP00000394421", "ENSEMBL:ENSP00000394421.1", "ENSEMBL:ENSP00000395491", "ENSEMBL:ENSP00000395491.1", "ENSEMBL:ENSP00000396188", "ENSEMBL:ENSP00000396188.1", "ENSEMBL:ENSP00000398545", "ENSEMBL:ENSP00000398545.1", "ENSEMBL:ENSP00000402395", "ENSEMBL:ENSP00000402395.1", "ENSEMBL:ENSP00000406707", "ENSEMBL:ENSP00000406707.1", "ENSEMBL:ENSP00000407294", "ENSEMBL:ENSP00000407294.2", "ENSEMBL:ENSP00000407876", "ENSEMBL:ENSP00000407876.1", "ENSEMBL:ENSP00000408233", "ENSEMBL:ENSP00000408233.2", "ENSEMBL:ENSP00000409182", "ENSEMBL:ENSP00000409182.1", "ENSEMBL:ENSP00000410446", "ENSEMBL:ENSP00000410446.2", "ENSEMBL:ENSP00000414248", "ENSEMBL:ENSP00000414248.1", "ENSEMBL:ENSP00000415328", "ENSEMBL:ENSP00000415328.1", "ENSEMBL:ENSP00000415755", "ENSEMBL:ENSP00000415755.2", "ENSEMBL:ENSP00000416737", "ENSEMBL:ENSP00000416737.1"], "information_content": 95.4}
{"id": "UniProtKB:P16949-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stathmin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P16949-2", "PR:P16949-2", "ENSEMBL:ENSP00000410452", "ENSEMBL:ENSP00000410452.2"], "information_content": 100.0}
{"id": "UniProtKB:Q06643-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphotoxin-beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q06643-1", "PR:Q06643-1", "ENSEMBL:ENSP00000365285", "ENSEMBL:ENSP00000365285.3", "ENSEMBL:ENSP00000372985", "ENSEMBL:ENSP00000372985.2", "ENSEMBL:ENSP00000393693", "ENSEMBL:ENSP00000393693.2", "ENSEMBL:ENSP00000395102", "ENSEMBL:ENSP00000395102.2", "ENSEMBL:ENSP00000398741", "ENSEMBL:ENSP00000398741.2", "ENSEMBL:ENSP00000404014", "ENSEMBL:ENSP00000404014.2", "ENSEMBL:ENSP00000404450", "ENSEMBL:ENSP00000404450.2", "ENSEMBL:ENSP00000410481", "ENSEMBL:ENSP00000410481.3"], "information_content": 100.0}
{"id": "NCBIGene:401934", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF223", "equivalent_identifiers": ["NCBIGene:401934", "ENSEMBL:ENSG00000237330", "HGNC:40020", "UMLS:C3146377", "UniProtKB:E7ERA6", "PR:E7ERA6", "ENSEMBL:ENSP00000410533", "ENSEMBL:ENSP00000410533.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDZ2-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SUMO-interacting motif-containing protein 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDZ2-5", "PR:Q8NDZ2-5", "ENSEMBL:ENSP00000410552", "ENSEMBL:ENSP00000410552.3"], "information_content": 100.0}
{"id": "NCBIGene:1018", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDK3", "equivalent_identifiers": ["NCBIGene:1018", "ENSEMBL:ENSG00000250506", "HGNC:1772", "OMIM:123828", "UMLS:C1332734", "UniProtKB:Q00526", "PR:Q00526", "ENSEMBL:ENSP00000400088", "ENSEMBL:ENSP00000400088.1", "ENSEMBL:ENSP00000410561", "ENSEMBL:ENSP00000410561.1", "UMLS:C1447440", "MESH:C098776"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZC1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CUGBP Elav-like family member 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZC1-1", "PR:Q9BZC1-1", "ENSEMBL:ENSP00000410584", "ENSEMBL:ENSP00000410584.2", "ENSEMBL:ENSP00000464794", "ENSEMBL:ENSP00000464794.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86XD5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM131B isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q86XD5-3", "PR:Q86XD5-3", "ENSEMBL:ENSP00000410603", "ENSEMBL:ENSP00000410603.2"], "information_content": 100.0}
{"id": "MONDO:0016688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fibrillary astrocytoma", "equivalent_identifiers": ["MONDO:0016688", "DOID:6726", "orphanet:251601", "UMLS:C0334582", "MEDDRA:10065889", "NCIT:C4322", "SNOMEDCT:71314006", "medgen:87270"], "information_content": 92.8}
{"id": "UniProtKB:Q8N556-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin filament-associated protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N556-2", "PR:Q8N556-2", "ENSEMBL:ENSP00000371983", "ENSEMBL:ENSP00000371983.3", "ENSEMBL:ENSP00000410689", "ENSEMBL:ENSP00000410689.1"], "information_content": 100.0}
{"id": "NCBIGene:6424", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SFRP4", "equivalent_identifiers": ["NCBIGene:6424", "ENSEMBL:ENSG00000106483", "HGNC:10778", "OMIM:606570", "UMLS:C1335814", "UniProtKB:Q6FHJ7", "PR:Q6FHJ7", "ENSEMBL:ENSP00000410715", "ENSEMBL:ENSP00000410715.2", "UMLS:C0913338", "MESH:C118723"], "information_content": 95.4}
{"id": "UniProtKB:P18507-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-aminobutyric acid receptor subunit gamma-2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P18507-3", "PR:P18507-3", "ENSEMBL:ENSP00000410732", "ENSEMBL:ENSP00000410732.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N1I0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dedicator of cytokinesis protein 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1I0-3", "PR:Q8N1I0-3", "ENSEMBL:ENSP00000410746", "ENSEMBL:ENSP00000410746.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULK2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ataxin-7-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULK2-1", "PR:Q9ULK2-1", "ENSEMBL:ENSP00000410759", "ENSEMBL:ENSP00000410759.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2D6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM135A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2D6-1", "PR:Q9P2D6-1", "ENSEMBL:ENSP00000359510", "ENSEMBL:ENSP00000359510.4", "ENSEMBL:ENSP00000410768", "ENSEMBL:ENSP00000410768.2"], "information_content": 100.0}
{"id": "UniProtKB:P62633-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCHC-type zinc finger nucleic acid binding protein isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:P62633-6", "PR:P62633-6", "ENSEMBL:ENSP00000410769", "ENSEMBL:ENSP00000410769.2"], "information_content": 100.0}
{"id": "MONDO:0007646", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gamstorp-Wohlfart syndrome", "equivalent_identifiers": ["MONDO:0007646", "DOID:0050526", "OMIM:137200", "orphanet:324442", "UMLS:C5700127", "SNOMEDCT:711406009", "medgen:1814513", "icd11.foundation:1738677442"], "information_content": 100.0}
{"id": "NCBIGene:2217", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FCGRT", "equivalent_identifiers": ["NCBIGene:2217", "ENSEMBL:ENSG00000104870", "HGNC:3621", "OMIM:601437", "UMLS:C1414557", "UniProtKB:A0A024QZI2", "UMLS:C1611843", "UniProtKB:M0R0A9", "ENSEMBL:ENSP00000471118", "ENSEMBL:ENSP00000471118.1", "UniProtKB:P55899", "PR:P55899", "ENSEMBL:ENSP00000221466", "ENSEMBL:ENSP00000221466.4", "ENSEMBL:ENSP00000410798", "ENSEMBL:ENSP00000410798.2"], "information_content": 90.9}
{"id": "UniProtKB:Q6PIW4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fidgetin-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PIW4-1", "PR:Q6PIW4-1", "ENSEMBL:ENSP00000349356", "ENSEMBL:ENSP00000349356.4", "ENSEMBL:ENSP00000378924", "ENSEMBL:ENSP00000378924.2", "ENSEMBL:ENSP00000399997", "ENSEMBL:ENSP00000399997.1", "ENSEMBL:ENSP00000410811", "ENSEMBL:ENSP00000410811.1", "ENSEMBL:ENSP00000483126", "ENSEMBL:ENSP00000483126.1", "ENSEMBL:ENSP00000483543", "ENSEMBL:ENSP00000483543.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15013-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAD2L1-binding protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15013-3", "PR:Q15013-3", "ENSEMBL:ENSP00000410818", "ENSEMBL:ENSP00000410818.2"], "information_content": 100.0}
{"id": "NCBIGene:2632", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GBE1", "equivalent_identifiers": ["NCBIGene:2632", "ENSEMBL:ENSG00000114480", "HGNC:4180", "OMIM:607839", "UMLS:C1415001", "UniProtKB:Q04446", "PR:Q04446", "ENSEMBL:ENSP00000410833", "ENSEMBL:ENSP00000410833.2", "UMLS:C3658094", "MESH:C577876", "UniProtKB:Q59ET0"], "information_content": 87.2}
{"id": "NCBIGene:92293", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM132C", "equivalent_identifiers": ["NCBIGene:92293", "ENSEMBL:ENSG00000181234", "HGNC:25436", "UMLS:C1823393", "UniProtKB:Q8N3T6", "PR:Q8N3T6", "ENSEMBL:ENSP00000410852", "ENSEMBL:ENSP00000410852.2", "UMLS:C4743009", "MESH:C000628672"], "information_content": 100.0}
{"id": "NCBIGene:283948", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NHLRC4", "equivalent_identifiers": ["NCBIGene:283948", "ENSEMBL:ENSG00000257108", "HGNC:26700", "UMLS:C2829952", "UniProtKB:P0CG21", "PR:P0CG21", "ENSEMBL:ENSP00000410858", "ENSEMBL:ENSP00000410858.2", "ENSEMBL:ENSP00000442223", "ENSEMBL:ENSP00000442223.1"], "information_content": 100.0}
{"id": "UniProtKB:Q59EK9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RUN domain-containing protein 3A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q59EK9-1", "PR:Q59EK9-1", "ENSEMBL:ENSP00000410862", "ENSEMBL:ENSP00000410862.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMS7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 783 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMS7-2", "PR:Q6ZMS7-2", "ENSEMBL:ENSP00000410890", "ENSEMBL:ENSP00000410890.1"], "information_content": 100.0}
{"id": "NCBIGene:389125", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUSTN1", "equivalent_identifiers": ["NCBIGene:389125", "ENSEMBL:ENSG00000272573", "HGNC:22144", "OMIM:617195", "UMLS:C1427756", "UniProtKB:Q8IVN3", "PR:Q8IVN3", "ENSEMBL:ENSP00000410910", "ENSEMBL:ENSP00000410910.2", "UMLS:C2002923", "MESH:C523782"], "information_content": 95.4}
{"id": "UniProtKB:Q96KR4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leishmanolysin-like peptidase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96KR4-3", "PR:Q96KR4-3", "ENSEMBL:ENSP00000410926", "ENSEMBL:ENSP00000410926.3"], "information_content": 100.0}
{"id": "NCBIGene:23270", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPYL4", "equivalent_identifiers": ["NCBIGene:23270", "ENSEMBL:ENSG00000187189", "HGNC:21559", "OMIM:619586", "UMLS:C1427609", "UniProtKB:Q9UJ04", "PR:Q9UJ04", "ENSEMBL:ENSP00000410943", "ENSEMBL:ENSP00000410943.1"], "information_content": 100.0}
{"id": "NCBIGene:10613", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERLIN1", "equivalent_identifiers": ["NCBIGene:10613", "ENSEMBL:ENSG00000107566", "HGNC:16947", "OMIM:611604", "UMLS:C1539836", "UniProtKB:O75477", "PR:O75477", "ENSEMBL:ENSP00000384900", "ENSEMBL:ENSP00000384900.3", "ENSEMBL:ENSP00000410964", "ENSEMBL:ENSP00000410964.2", "UMLS:C1432026", "MESH:C418605"], "information_content": 88.2}
{"id": "UniProtKB:Q13724-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mannosyl-oligosaccharide glucosidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13724-1", "PR:Q13724-1", "ENSEMBL:ENSP00000410992", "ENSEMBL:ENSP00000410992.3"], "information_content": 100.0}
{"id": "NCBIGene:30836", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNTTIP2", "equivalent_identifiers": ["NCBIGene:30836", "ENSEMBL:ENSG00000067334", "HGNC:24013", "OMIM:611199", "UMLS:C1824955", "UniProtKB:Q5QJE6", "PR:Q5QJE6", "ENSEMBL:ENSP00000411010", "ENSEMBL:ENSP00000411010.2", "UMLS:C1451126", "MESH:C484899"], "information_content": 90.9}
{"id": "UniProtKB:Q92636-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAN isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92636-2", "PR:Q92636-2", "ENSEMBL:ENSP00000411012", "ENSEMBL:ENSP00000411012.2"], "information_content": 100.0}
{"id": "UniProtKB:P57727-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protease serine 3 isoform A (human)", "equivalent_identifiers": ["UniProtKB:P57727-1", "PR:P57727-1", "ENSEMBL:ENSP00000411013", "ENSEMBL:ENSP00000411013.3"], "information_content": 100.0}
{"id": "NCBIGene:9275", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCL7B", "equivalent_identifiers": ["NCBIGene:9275", "ENSEMBL:ENSG00000106635", "HGNC:1005", "OMIM:605846", "UMLS:C1412767", "UniProtKB:F2Z3H6", "ENSEMBL:ENSP00000411073", "ENSEMBL:ENSP00000411073.2", "UMLS:C1308862", "MESH:C116387", "UniProtKB:Q9BQE9", "PR:Q9BQE9", "UMLS:C4761465"]}
{"id": "MONDO:0001275", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinal meningioma", "equivalent_identifiers": ["MONDO:0001275", "DOID:1138", "UMLS:C0347515", "MEDDRA:10067793", "NCIT:C6935", "SNOMEDCT:189167009", "medgen:87576", "HP:0100010"], "information_content": 100.0}
{"id": "UniProtKB:Q96GE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 799 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GE5-1", "PR:Q96GE5-1", "ENSEMBL:ENSP00000411084", "ENSEMBL:ENSP00000411084.2"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000411096", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000411096", "equivalent_identifiers": ["ENSEMBL:ENSP00000411096"]}
{"id": "UniProtKB:Q9UKI8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase tousled-like 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKI8-1", "PR:Q9UKI8-1", "ENSEMBL:ENSP00000411099", "ENSEMBL:ENSP00000411099.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N2I2-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 619 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2I2-4", "PR:Q8N2I2-4", "ENSEMBL:ENSP00000411132", "ENSEMBL:ENSP00000411132.2", "ENSEMBL:ENSP00000430705", "ENSEMBL:ENSP00000430705.1"], "information_content": 100.0}
{"id": "NCBIGene:440348", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPIPB15", "equivalent_identifiers": ["NCBIGene:440348", "ENSEMBL:ENSG00000196436", "HGNC:34409", "UMLS:C2678525", "UniProtKB:A6NHN6", "PR:A6NHN6", "ENSEMBL:ENSP00000411140", "ENSEMBL:ENSP00000411140.1", "ENSEMBL:ENSP00000508772", "ENSEMBL:ENSP00000508772.1"], "information_content": 100.0}
{"id": "MONDO:0002892", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skull base chordoma", "equivalent_identifiers": ["MONDO:0002892", "DOID:4151", "UMLS:C1335975", "NCIT:C5453", "medgen:233448"], "information_content": 86.3}
{"id": "UniProtKB:A0PJY2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fez family zinc finger protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:A0PJY2-1", "PR:A0PJY2-1", "ENSEMBL:ENSP00000411145", "ENSEMBL:ENSP00000411145.2"], "information_content": 100.0}
{"id": "UniProtKB:P27987-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol-trisphosphate 3-kinase B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P27987-1", "PR:P27987-1", "ENSEMBL:ENSP00000272117", "ENSEMBL:ENSP00000272117.3", "ENSEMBL:ENSP00000411152", "ENSEMBL:ENSP00000411152.1"], "information_content": 100.0}
{"id": "NCBIGene:23158", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBC1D9", "equivalent_identifiers": ["NCBIGene:23158", "ENSEMBL:ENSG00000109436", "HGNC:21710", "OMIM:618035", "UMLS:C1823242", "UniProtKB:Q6ZT07", "PR:Q6ZT07", "ENSEMBL:ENSP00000411197", "ENSEMBL:ENSP00000411197.2", "UMLS:C5433617", "MESH:C000709191"], "information_content": 92.8}
{"id": "NCBIGene:85354", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP4-16", "equivalent_identifiers": ["NCBIGene:85354", "ENSEMBL:ENSG00000241241", "HGNC:18921", "UMLS:C1425889", "UniProtKB:G5E9R7", "PR:G5E9R7", "ENSEMBL:ENSP00000411198", "ENSEMBL:ENSP00000411198.1", "ENSEMBL:ENSP00000461664", "ENSEMBL:ENSP00000461664.1", "ENSEMBL:ENSP00000517804", "ENSEMBL:ENSP00000517804.1"], "information_content": 100.0}
{"id": "UniProtKB:Q53EP0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibronectin type III domain-containing protein 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53EP0-1", "PR:Q53EP0-1", "ENSEMBL:ENSP00000338523", "ENSEMBL:ENSP00000338523.4", "ENSEMBL:ENSP00000389094", "ENSEMBL:ENSP00000389094.1", "ENSEMBL:ENSP00000411242", "ENSEMBL:ENSP00000411242.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVR7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBCC domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVR7-1", "PR:Q9NVR7-1", "ENSEMBL:ENSP00000341652", "ENSEMBL:ENSP00000341652.5", "ENSEMBL:ENSP00000411253", "ENSEMBL:ENSP00000411253.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0R8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-aminobutyric acid receptor-associated protein-like 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0R8-2", "PR:Q9H0R8-2", "ENSEMBL:ENSP00000411256", "ENSEMBL:ENSP00000411256.2", "ENSEMBL:ENSP00000445857", "ENSEMBL:ENSP00000445857.1"], "information_content": 100.0}
{"id": "NCBIGene:57673", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BEND3", "equivalent_identifiers": ["NCBIGene:57673", "ENSEMBL:ENSG00000178409", "HGNC:23040", "OMIM:616374", "UMLS:C2681182", "UniProtKB:Q5T5X7", "PR:Q5T5X7", "ENSEMBL:ENSP00000358038", "ENSEMBL:ENSP00000358038.1", "ENSEMBL:ENSP00000411268", "ENSEMBL:ENSP00000411268.2", "UMLS:C3490094", "MESH:C569909"], "information_content": 92.8}
{"id": "UniProtKB:P08575-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase C isoform CD45RABC (human)", "equivalent_identifiers": ["UniProtKB:P08575-3", "PR:P08575-3", "ENSEMBL:ENSP00000411355", "ENSEMBL:ENSP00000411355.3"], "information_content": 100.0}
{"id": "UniProtKB:P27448-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAP/microtubule affinity-regulating kinase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P27448-5", "PR:P27448-5", "ENSEMBL:ENSP00000411397", "ENSEMBL:ENSP00000411397.2"], "information_content": 100.0}
{"id": "UniProtKB:Q15042-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab3 GTPase-activating protein catalytic subunit isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15042-3", "PR:Q15042-3", "ENSEMBL:ENSP00000411418", "ENSEMBL:ENSP00000411418.1"], "information_content": 100.0}
{"id": "NCBIGene:399968", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PATE4", "equivalent_identifiers": ["NCBIGene:399968", "ENSEMBL:ENSG00000237353", "HGNC:35427", "UMLS:C2678553", "UniProtKB:P0C8F1", "PR:P0C8F1", "ENSEMBL:ENSP00000411439", "ENSEMBL:ENSP00000411439.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUQ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family F member 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUQ8-1", "PR:Q9NUQ8-1", "ENSEMBL:ENSP00000411471", "ENSEMBL:ENSP00000411471.2"], "information_content": 100.0}
{"id": "UniProtKB:P11388-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA topoisomerase 2-alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11388-1", "PR:P11388-1", "ENSEMBL:ENSP00000411532", "ENSEMBL:ENSP00000411532.1"], "information_content": 100.0}
{"id": "UniProtKB:A0PJE2-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dehydrogenase/reductase SDR family member 12 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:A0PJE2-4", "PR:A0PJE2-4", "ENSEMBL:ENSP00000411565", "ENSEMBL:ENSP00000411565.3"], "information_content": 100.0}
{"id": "UniProtKB:P23415-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycine receptor subunit alpha-1 isoform a (human)", "equivalent_identifiers": ["UniProtKB:P23415-1", "PR:P23415-1", "ENSEMBL:ENSP00000411593", "ENSEMBL:ENSP00000411593.2"], "information_content": 100.0}
{"id": "UniProtKB:P19801-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diamine oxidase [copper-containing] isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P19801-2", "PR:P19801-2", "ENSEMBL:ENSP00000411613", "ENSEMBL:ENSP00000411613.2"], "information_content": 100.0}
{"id": "UniProtKB:P25325-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3-mercaptopyruvate sulfurtransferase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P25325-2", "PR:P25325-2", "ENSEMBL:ENSP00000411719", "ENSEMBL:ENSP00000411719.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BWP8-10", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collectin-11 isoform h10 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWP8-10", "PR:Q9BWP8-10", "ENSEMBL:ENSP00000411770", "ENSEMBL:ENSP00000411770.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9HC97-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G-protein coupled receptor 35 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9HC97-2", "PR:Q9HC97-2", "ENSEMBL:ENSP00000411788", "ENSEMBL:ENSP00000411788.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDX6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chondroitin sulfate N-acetylgalactosaminyltransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDX6-1", "PR:Q8TDX6-1", "ENSEMBL:ENSP00000330805", "ENSEMBL:ENSP00000330805.6", "ENSEMBL:ENSP00000411816", "ENSEMBL:ENSP00000411816.2", "ENSEMBL:ENSP00000429809", "ENSEMBL:ENSP00000429809.1", "ENSEMBL:ENSP00000509853", "ENSEMBL:ENSP00000509853.1", "ENSEMBL:ENSP00000512242", "ENSEMBL:ENSP00000512242.1", "ENSEMBL:ENSP00000512243", "ENSEMBL:ENSP00000512243.1", "ENSEMBL:ENSP00000512244", "ENSEMBL:ENSP00000512244.1", "ENSEMBL:ENSP00000512245", "ENSEMBL:ENSP00000512245.1", "ENSEMBL:ENSP00000512246", "ENSEMBL:ENSP00000512246.1", "ENSEMBL:ENSP00000512247", "ENSEMBL:ENSP00000512247.1", "ENSEMBL:ENSP00000512248", "ENSEMBL:ENSP00000512248.1"], "information_content": 100.0}
{"id": "NCBIGene:218", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALDH3A1", "equivalent_identifiers": ["NCBIGene:218", "ENSEMBL:ENSG00000108602", "HGNC:405", "OMIM:100660", "UMLS:C1412336", "UniProtKB:I3L3I9", "ENSEMBL:ENSP00000460482", "ENSEMBL:ENSP00000460482.2", "UMLS:C1433172", "MESH:C480021", "UniProtKB:P30838", "PR:P30838", "ENSEMBL:ENSP00000225740", "ENSEMBL:ENSP00000225740.6", "ENSEMBL:ENSP00000388469", "ENSEMBL:ENSP00000388469.1", "ENSEMBL:ENSP00000411821", "ENSEMBL:ENSP00000411821.2", "UniProtKB:Q6PKA6"], "information_content": 92.8}
{"id": "ENSEMBL:ENSP00000411822", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000411822", "equivalent_identifiers": ["ENSEMBL:ENSP00000411822"]}
{"id": "UniProtKB:Q8WUM4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "programmed cell death 6-interacting protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUM4-2", "PR:Q8WUM4-2", "ENSEMBL:ENSP00000411825", "ENSEMBL:ENSP00000411825.2"], "information_content": 100.0}
{"id": "UniProtKB:O75037-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF21B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75037-1", "PR:O75037-1", "ENSEMBL:ENSP00000411831", "ENSEMBL:ENSP00000411831.2"], "information_content": 100.0}
{"id": "MONDO:0003546", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "third cranial nerve disorder", "equivalent_identifiers": ["MONDO:0003546", "DOID:562", "UMLS:C0271353", "MESH:D015840", "MEDDRA:10053644", "MEDDRA:10053661", "NCIT:C27598", "SNOMEDCT:60750009", "medgen:78766"], "information_content": 77.8}
{"id": "UniProtKB:Q5T0T0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase MARCHF8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5T0T0-2", "PR:Q5T0T0-2", "ENSEMBL:ENSP00000411848", "ENSEMBL:ENSP00000411848.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6UW88-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epigen isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UW88-1", "PR:Q6UW88-1", "ENSEMBL:ENSP00000411898", "ENSEMBL:ENSP00000411898.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6P5Q4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leiomodin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P5Q4-1", "PR:Q6P5Q4-1", "ENSEMBL:ENSP00000411932", "ENSEMBL:ENSP00000411932.2"], "information_content": 100.0}
{"id": "NCBIGene:3451", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFNA17", "equivalent_identifiers": ["NCBIGene:3451", "ENSEMBL:ENSG00000234829", "HGNC:5422", "OMIM:147583", "UMLS:C1415904", "UniProtKB:P01571", "PR:P01571", "ENSEMBL:ENSP00000411940", "ENSEMBL:ENSP00000411940.2"], "information_content": 95.4}
{"id": "UniProtKB:Q5SSQ6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "suppressor APC domain-containing protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5SSQ6-2", "PR:Q5SSQ6-2", "ENSEMBL:ENSP00000387942", "ENSEMBL:ENSP00000387942.2", "ENSEMBL:ENSP00000403346", "ENSEMBL:ENSP00000403346.2", "ENSEMBL:ENSP00000403687", "ENSEMBL:ENSP00000403687.2", "ENSEMBL:ENSP00000404105", "ENSEMBL:ENSP00000404105.2", "ENSEMBL:ENSP00000405513", "ENSEMBL:ENSP00000405513.2", "ENSEMBL:ENSP00000411948", "ENSEMBL:ENSP00000411948.2"], "information_content": 100.0}
{"id": "UniProtKB:P51659-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal multifunctional enzyme type 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51659-2", "PR:P51659-2", "ENSEMBL:ENSP00000411960", "ENSEMBL:ENSP00000411960.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6F6-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol 1,4,5-triphosphate receptor associated 1 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6F6-7", "PR:Q9Y6F6-7", "ENSEMBL:ENSP00000412130", "ENSEMBL:ENSP00000412130.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZUS5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 121 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZUS5-2", "PR:Q6ZUS5-2", "ENSEMBL:ENSP00000412150", "ENSEMBL:ENSP00000412150.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13574-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diacylglycerol kinase zeta isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13574-1", "PR:Q13574-1", "ENSEMBL:ENSP00000412178", "ENSEMBL:ENSP00000412178.1"], "information_content": 100.0}
{"id": "NCBIGene:441531", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PGAM4", "equivalent_identifiers": ["NCBIGene:441531", "ENSEMBL:ENSG00000226784", "HGNC:21731", "OMIM:300567", "UMLS:C1826570", "UniProtKB:Q8N0Y7", "PR:Q8N0Y7", "ENSEMBL:ENSP00000412189", "ENSEMBL:ENSP00000412189.1"], "information_content": 100.0}
{"id": "UniProtKB:Q01344-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-5 receptor subunit alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01344-1", "PR:Q01344-1", "ENSEMBL:ENSP00000256452", "ENSEMBL:ENSP00000256452.3", "ENSEMBL:ENSP00000412209", "ENSEMBL:ENSP00000412209.2"], "information_content": 100.0}
{"id": "NCBIGene:152940", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPMIP2", "equivalent_identifiers": ["NCBIGene:152940", "ENSEMBL:ENSG00000164123", "HGNC:26342", "UMLS:C2681223", "UniProtKB:Q96LM5", "PR:Q96LM5", "ENSEMBL:ENSP00000412215", "ENSEMBL:ENSP00000412215.2"], "information_content": 100.0}
{"id": "NCBIGene:3586", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL10", "equivalent_identifiers": ["NCBIGene:3586", "ENSEMBL:ENSG00000136634", "HGNC:5962", "OMIM:124092", "UMLS:C1334098", "UniProtKB:A0A286YEX3", "ENSEMBL:ENSP00000493073", "ENSEMBL:ENSP00000493073.2", "UniProtKB:P22301", "PR:P22301", "ENSEMBL:ENSP00000412237", "ENSEMBL:ENSP00000412237.1", "UMLS:C1699802", "MESH:C508609", "UniProtKB:Q6FGW4"], "information_content": 92.8}
{"id": "UniProtKB:Q5TB30-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DEP domain-containing protein 1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TB30-5", "PR:Q5TB30-5", "ENSEMBL:ENSP00000412292", "ENSEMBL:ENSP00000412292.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13362-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q13362-5", "PR:Q13362-5", "ENSEMBL:ENSP00000412324", "ENSEMBL:ENSP00000412324.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBL0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cAMP-regulated phosphoprotein 21 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBL0-3", "PR:Q9UBL0-3", "ENSEMBL:ENSP00000412326", "ENSEMBL:ENSP00000412326.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96RL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialic acid-binding Ig-like lectin 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RL6-1", "PR:Q96RL6-1", "ENSEMBL:ENSP00000412361", "ENSEMBL:ENSP00000412361.2"], "information_content": 100.0}
{"id": "NCBIGene:389813", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AJM1", "equivalent_identifiers": ["NCBIGene:389813", "ENSEMBL:ENSG00000232434", "HGNC:37284", "UMLS:C4554683", "UniProtKB:C9J069", "PR:C9J069", "ENSEMBL:ENSP00000412388", "ENSEMBL:ENSP00000412388.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z5H3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 22 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5H3-2", "PR:Q7Z5H3-2", "ENSEMBL:ENSP00000412461", "ENSEMBL:ENSP00000412461.2"], "information_content": 100.0}
{"id": "NCBIGene:26579", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYEOV", "equivalent_identifiers": ["NCBIGene:26579", "ENSEMBL:ENSG00000172927", "HGNC:7563", "OMIM:605625", "UMLS:C1417531", "UniProtKB:A8K256", "UniProtKB:F5H0B3", "ENSEMBL:ENSP00000438100", "ENSEMBL:ENSP00000438100.1", "UniProtKB:Q96EZ4", "PR:Q96EZ4", "ENSEMBL:ENSP00000308330", "ENSEMBL:ENSP00000308330.3", "ENSEMBL:ENSP00000412482", "ENSEMBL:ENSP00000412482.2", "UMLS:C1438923", "MESH:C407245"], "information_content": 100.0}
{"id": "UniProtKB:P14678-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small nuclear ribonucleoprotein-associated proteins B isoform SM-B' (human)", "equivalent_identifiers": ["UniProtKB:P14678-1", "PR:P14678-1", "ENSEMBL:ENSP00000412566", "ENSEMBL:ENSP00000412566.2"], "information_content": 100.0}
{"id": "UniProtKB:P24046-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-aminobutyric acid receptor subunit rho-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P24046-1", "PR:P24046-1", "ENSEMBL:ENSP00000412673", "ENSEMBL:ENSP00000412673.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "required for meiotic nuclear division protein 1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWS8-1", "PR:Q9NWS8-1", "ENSEMBL:ENSP00000412708", "ENSEMBL:ENSP00000412708.2", "ENSEMBL:ENSP00000507984", "ENSEMBL:ENSP00000507984.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96SU4-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxysterol-binding protein-related protein 9 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q96SU4-6", "PR:Q96SU4-6", "ENSEMBL:ENSP00000412733", "ENSEMBL:ENSP00000412733.1"], "information_content": 100.0}
{"id": "NCBIGene:340895", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MALRD1", "equivalent_identifiers": ["NCBIGene:340895", "ENSEMBL:ENSG00000204740", "HGNC:24331", "OMIM:617715", "UMLS:C1538412", "UniProtKB:Q5VYJ5", "PR:Q5VYJ5", "ENSEMBL:ENSP00000412763", "ENSEMBL:ENSP00000412763.3", "UMLS:C2745601", "MESH:C539830"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKS7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein Helios isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKS7-1", "PR:Q9UKS7-1", "ENSEMBL:ENSP00000412869", "ENSEMBL:ENSP00000412869.1"], "information_content": 100.0}
{"id": "UniProtKB:O94983-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calmodulin-binding transcription activator 2 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:O94983-6", "PR:O94983-6", "ENSEMBL:ENSP00000412886", "ENSEMBL:ENSP00000412886.3"], "information_content": 100.0}
{"id": "MONDO:0007919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Milroy Disease", "equivalent_identifiers": ["MONDO:0007919", "DOID:0070210", "DOID:0070212", "OMIM:153100", "orphanet:79452", "UMLS:C1704423", "MEDDRA:10051461", "SNOMEDCT:399889006", "medgen:309963", "ICD10:Q82.0"], "information_content": 100.0}
{"id": "NCBIGene:3441", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFNA4", "equivalent_identifiers": ["NCBIGene:3441", "ENSEMBL:ENSG00000236637", "HGNC:5425", "OMIM:147564", "UMLS:C1415906", "UniProtKB:P05014", "PR:P05014", "ENSEMBL:ENSP00000412897", "ENSEMBL:ENSP00000412897.1", "UMLS:C2974612", "MESH:C554159"], "information_content": 95.4}
{"id": "UniProtKB:F2Z2I4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F2Z2I4_HUMAN Testis specific protein Y-linked 10 (trembl)", "equivalent_identifiers": ["UniProtKB:F2Z2I4", "ENSEMBL:ENSP00000397151", "ENSEMBL:ENSP00000397151.1", "ENSEMBL:ENSP00000412988", "ENSEMBL:ENSP00000412988.1"]}
{"id": "MONDO:0008453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "adult-onset proximal spinal muscular atrophy, autosomal dominant", "equivalent_identifiers": ["MONDO:0008453", "DOID:0111194", "OMIM:182980", "orphanet:209335", "UMLS:C1854058", "MESH:C566673", "SNOMEDCT:784391002", "medgen:340120"], "information_content": 100.0}
{"id": "NCBIGene:123624", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AGBL1", "equivalent_identifiers": ["NCBIGene:123624", "ENSEMBL:ENSG00000273540", "HGNC:26504", "OMIM:615496", "UMLS:C1540192", "UniProtKB:A0A1B0GVQ2", "ENSEMBL:ENSP00000490608", "ENSEMBL:ENSP00000490608.2", "UniProtKB:Q96MI9", "PR:Q96MI9", "ENSEMBL:ENSP00000413001", "ENSEMBL:ENSP00000413001.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUN5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 28B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUN5-3", "PR:Q9BUN5-3", "ENSEMBL:ENSP00000413017", "ENSEMBL:ENSP00000413017.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BPX7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UPF0415 protein C7orf25 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BPX7-2", "PR:Q9BPX7-2", "ENSEMBL:ENSP00000413029", "ENSEMBL:ENSP00000413029.2"], "information_content": 100.0}
{"id": "UniProtKB:O43251-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA binding protein fox-1 homolog 2 isoform h8 (human)", "equivalent_identifiers": ["UniProtKB:O43251-8", "PR:O43251-8", "ENSEMBL:ENSP00000413035", "ENSEMBL:ENSP00000413035.2"], "information_content": 100.0}
{"id": "NCBIGene:339983", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAT8L", "equivalent_identifiers": ["NCBIGene:339983", "ENSEMBL:ENSG00000185818", "HGNC:26742", "OMIM:610647", "UMLS:C1826352", "UniProtKB:Q8N9F0", "PR:Q8N9F0", "ENSEMBL:ENSP00000413064", "ENSEMBL:ENSP00000413064.2", "UMLS:C4307553", "MESH:C000611572"], "information_content": 100.0}
{"id": "MONDO:0002583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucinous ovarian cystadenoma", "equivalent_identifiers": ["MONDO:0002583", "DOID:3267", "UMLS:C0346172", "NCIT:C4512", "SNOMEDCT:119422004", "medgen:91088"], "information_content": 100.0}
{"id": "NCBIGene:100507436", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MICA", "equivalent_identifiers": ["NCBIGene:100507436", "ENSEMBL:ENSG00000204520", "HGNC:7090", "OMIM:600169", "UMLS:C1417162", "UniProtKB:A0A024RCL3", "ENSEMBL:ENSP00000480992", "ENSEMBL:ENSP00000480992.1", "ENSEMBL:ENSP00000482382", "ENSEMBL:ENSP00000482382.1", "ENSEMBL:ENSP00000482763", "ENSEMBL:ENSP00000482763.1", "UniProtKB:A0A0G2JJ55", "ENSEMBL:ENSP00000405177", "ENSEMBL:ENSP00000405177.1", "ENSEMBL:ENSP00000405741", "ENSEMBL:ENSP00000405741.1", "ENSEMBL:ENSP00000501157", "ENSEMBL:ENSP00000501157.1", "UniProtKB:Q29983", "PR:Q29983", "ENSEMBL:ENSP00000402134", "ENSEMBL:ENSP00000402134.1", "UMLS:C1448848", "UniProtKB:Q96QC4", "ENSEMBL:ENSP00000394553", "ENSEMBL:ENSP00000394553.1", "ENSEMBL:ENSP00000413079", "ENSEMBL:ENSP00000413079.1", "ENSEMBL:ENSP00000416941", "ENSEMBL:ENSP00000416941.1", "ENSEMBL:ENSP00000446655", "ENSEMBL:ENSP00000446655.1", "ENSEMBL:ENSP00000447026", "ENSEMBL:ENSP00000447026.1"]}
{"id": "NCBIGene:22828", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCAF8", "equivalent_identifiers": ["NCBIGene:22828", "ENSEMBL:ENSG00000213079", "HGNC:20959", "OMIM:616024", "UMLS:C1427210", "UniProtKB:A0A0A0MT33", "ENSEMBL:ENSP00000413098", "ENSEMBL:ENSP00000413098.2", "UMLS:C2606928", "MESH:C531982", "UniProtKB:B7Z3A4", "UniProtKB:B7Z876", "UniProtKB:Q9UPN6", "PR:Q9UPN6"]}
{"id": "NCBIGene:283951", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UQCC4", "equivalent_identifiers": ["NCBIGene:283951", "ENSEMBL:ENSG00000174109", "HGNC:27558", "OMIM:620578", "UMLS:C2681296", "UniProtKB:A0A0A8K8N9", "UniProtKB:Q4G0I0", "PR:Q4G0I0", "ENSEMBL:ENSP00000413100", "ENSEMBL:ENSP00000413100.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y680-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidyl-prolyl cis-trans isomerase FKBP7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y680-2", "PR:Q9Y680-2", "ENSEMBL:ENSP00000413152", "ENSEMBL:ENSP00000413152.2"], "information_content": 100.0}
{"id": "NCBIGene:83871", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB34", "equivalent_identifiers": ["NCBIGene:83871", "ENSEMBL:ENSG00000109113", "HGNC:16519", "OMIM:610917", "UMLS:C1424349", "UniProtKB:B4DNC0", "UMLS:C3252007", "MESH:C567953", "UniProtKB:E7ES60", "ENSEMBL:ENSP00000413156", "ENSEMBL:ENSP00000413156.3", "UniProtKB:P0DI83", "UniProtKB:Q96PJ7", "ENSEMBL:ENSP00000487160", "ENSEMBL:ENSP00000487160.1", "UniProtKB:Q9BZG1", "PR:Q9BZG1"]}
{"id": "UniProtKB:Q8N3G9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 130 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3G9-1", "PR:Q8N3G9-1", "ENSEMBL:ENSP00000413163", "ENSEMBL:ENSP00000413163.2"], "information_content": 100.0}
{"id": "MONDO:0017906", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amyloidosis cutis dyschromia", "equivalent_identifiers": ["MONDO:0017906", "DOID:0080932", "orphanet:319635", "UMLS:C4554601", "SNOMEDCT:764849002", "medgen:1641859"], "information_content": 100.0}
{"id": "NCBIGene:729830", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FHIP1A", "equivalent_identifiers": ["NCBIGene:729830", "ENSEMBL:ENSG00000164142", "HGNC:34237", "UMLS:C2681487", "UniProtKB:Q05DH4", "PR:Q05DH4", "ENSEMBL:ENSP00000413196", "ENSEMBL:ENSP00000413196.1", "ENSEMBL:ENSP00000421580", "ENSEMBL:ENSP00000421580.1"], "information_content": 95.4}
{"id": "NCBIGene:80235", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIGZ", "equivalent_identifiers": ["NCBIGene:80235", "ENSEMBL:ENSG00000119227", "HGNC:30596", "OMIM:611671", "UMLS:C1826588", "UniProtKB:B4DL68", "UMLS:C1565621", "MESH:C496263", "UniProtKB:Q86VD9", "PR:Q86VD9", "ENSEMBL:ENSP00000413405", "ENSEMBL:ENSP00000413405.1"], "information_content": 100.0}
{"id": "NCBIGene:440519", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF724", "equivalent_identifiers": ["NCBIGene:440519", "ENSEMBL:ENSG00000196081", "HGNC:32460", "UMLS:C4321128", "UniProtKB:A8MTY0", "PR:A8MTY0", "ENSEMBL:ENSP00000413411", "ENSEMBL:ENSP00000413411.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0A1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger homeobox protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0A1-1", "PR:Q9C0A1-1", "ENSEMBL:ENSP00000413418", "ENSEMBL:ENSP00000413418.2"], "information_content": 100.0}
{"id": "UniProtKB:A8MWY0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A8MWY0-1", "PR:A8MWY0-1", "ENSEMBL:ENSP00000413445", "ENSEMBL:ENSP00000413445.2"], "information_content": 100.0}
{"id": "NCBIGene:3850", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT3", "equivalent_identifiers": ["NCBIGene:3850", "ENSEMBL:ENSG00000186442", "HGNC:6440", "OMIM:148043", "UMLS:C1416740", "UniProtKB:P12035", "PR:P12035", "ENSEMBL:ENSP00000413479", "ENSEMBL:ENSP00000413479.2", "UMLS:C1608811", "MESH:C479360"], "information_content": 100.0}
{"id": "UniProtKB:P61328-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibroblast growth factor 12 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61328-1", "PR:P61328-1", "ENSEMBL:ENSP00000413496", "ENSEMBL:ENSP00000413496.2"], "information_content": 100.0}
{"id": "NCBIGene:989", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEPTIN7", "equivalent_identifiers": ["NCBIGene:989", "ENSEMBL:ENSG00000122545", "HGNC:1717", "OMIM:603151", "UMLS:C1539749", "UniProtKB:A0A023T695", "UniProtKB:A0A024RA87", "ENSEMBL:ENSP00000381992", "ENSEMBL:ENSP00000381992.4", "UniProtKB:A8K3D0", "UMLS:C0676832", "MESH:C113158", "UniProtKB:B4DNE4", "UniProtKB:G3V1Q4", "ENSEMBL:ENSP00000413507", "ENSEMBL:ENSP00000413507.2", "UniProtKB:Q16181", "PR:Q16181"]}
{"id": "UniProtKB:Q8IV36-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein HID1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IV36-1", "PR:Q8IV36-1", "ENSEMBL:ENSP00000413520", "ENSEMBL:ENSP00000413520.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVX2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "notchless protein homolog 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVX2-1", "PR:Q9NVX2-1", "ENSEMBL:ENSP00000413572", "ENSEMBL:ENSP00000413572.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKG9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxisomal carnitine O-octanoyltransferase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKG9-3", "PR:Q9UKG9-3", "ENSEMBL:ENSP00000413575", "ENSEMBL:ENSP00000413575.2"], "information_content": 100.0}
{"id": "UniProtKB:Q15833-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-binding protein 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q15833-3", "PR:Q15833-3", "ENSEMBL:ENSP00000413606", "ENSEMBL:ENSP00000413606.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96RU3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "formin-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RU3-1", "PR:Q96RU3-1", "ENSEMBL:ENSP00000413625", "ENSEMBL:ENSP00000413625.1"], "information_content": 100.0}
{"id": "UniProtKB:Q4G0Z9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "minichromosome maintenance domain-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q4G0Z9-1", "PR:Q4G0Z9-1", "ENSEMBL:ENSP00000413632", "ENSEMBL:ENSP00000413632.2"], "information_content": 100.0}
{"id": "NCBIGene:57615", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF492", "equivalent_identifiers": ["NCBIGene:57615", "ENSEMBL:ENSG00000229676", "HGNC:23707", "OMIM:620124", "UMLS:C1428209", "UniProtKB:Q9P255", "PR:Q9P255", "ENSEMBL:ENSP00000413660", "ENSEMBL:ENSP00000413660.2", "UMLS:C1722909", "MESH:C511417"], "information_content": 100.0}
{"id": "MONDO:0024264", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypothyroidism, congenital, nongoitrous, 2", "equivalent_identifiers": ["MONDO:0024264", "DOID:0070124", "OMIM:218700", "UMLS:C1563716", "UMLS:C1869118", "MESH:C566852", "MESH:D050033", "NCIT:C85190", "medgen:358389", "HP:0008188"], "information_content": 89.4}
{"id": "UniProtKB:O60784-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "target of Myb1 membrane trafficking protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60784-2", "PR:O60784-2", "ENSEMBL:ENSP00000413697", "ENSEMBL:ENSP00000413697.1"], "information_content": 100.0}
{"id": "MONDO:0011660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 22", "equivalent_identifiers": ["MONDO:0011660", "DOID:0110552", "OMIM:606346", "UMLS:C2931767", "UMLS:C3149009", "MESH:C538197", "medgen:419894"], "information_content": 100.0}
{"id": "UniProtKB:Q8TF66-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 15 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF66-2", "PR:Q8TF66-2", "ENSEMBL:ENSP00000413707", "ENSEMBL:ENSP00000413707.1"], "information_content": 100.0}
{"id": "UniProtKB:P49918-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase inhibitor 1C isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P49918-1", "PR:P49918-1", "ENSEMBL:ENSP00000411552", "ENSEMBL:ENSP00000411552.2", "ENSEMBL:ENSP00000413720", "ENSEMBL:ENSP00000413720.3"], "information_content": 100.0}
{"id": "NCBIGene:728858", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C12orf71", "equivalent_identifiers": ["NCBIGene:728858", "ENSEMBL:ENSG00000214700", "HGNC:34452", "UMLS:C2681278", "UniProtKB:A8MTZ7", "PR:A8MTZ7", "ENSEMBL:ENSP00000413728", "ENSEMBL:ENSP00000413728.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y336-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sialic acid-binding Ig-like lectin 9 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y336-2", "PR:Q9Y336-2", "ENSEMBL:ENSP00000413861", "ENSEMBL:ENSP00000413861.2"], "information_content": 100.0}
{"id": "NCBIGene:617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCS1L", "equivalent_identifiers": ["NCBIGene:617", "ENSEMBL:ENSG00000074582", "HGNC:1020", "OMIM:603647", "UMLS:C1412777", "UniProtKB:A0A024R445", "UMLS:C1432269", "MESH:C435491", "UniProtKB:A8JZZ8", "UniProtKB:Q9Y276", "PR:Q9Y276", "ENSEMBL:ENSP00000352219", "ENSEMBL:ENSP00000352219.3", "ENSEMBL:ENSP00000375957", "ENSEMBL:ENSP00000375957.1", "ENSEMBL:ENSP00000375958", "ENSEMBL:ENSP00000375958.2", "ENSEMBL:ENSP00000375959", "ENSEMBL:ENSP00000375959.2", "ENSEMBL:ENSP00000404999", "ENSEMBL:ENSP00000404999.1", "ENSEMBL:ENSP00000406494", "ENSEMBL:ENSP00000406494.1", "ENSEMBL:ENSP00000413908", "ENSEMBL:ENSP00000413908.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2K3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "REST corepressor 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2K3-3", "PR:Q9P2K3-3", "ENSEMBL:ENSP00000413929", "ENSEMBL:ENSP00000413929.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BT40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol polyphosphate 5-phosphatase K isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BT40-1", "PR:Q9BT40-1", "ENSEMBL:ENSP00000413937", "ENSEMBL:ENSP00000413937.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSY0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSY0-3", "PR:Q9NSY0-3", "ENSEMBL:ENSP00000414055", "ENSEMBL:ENSP00000414055.2"], "information_content": 100.0}
{"id": "NCBIGene:57001", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDHAF3", "equivalent_identifiers": ["NCBIGene:57001", "ENSEMBL:ENSG00000196636", "HGNC:21752", "OMIM:615773", "UMLS:C1427742", "UniProtKB:Q9NRP4", "PR:Q9NRP4", "ENSEMBL:ENSP00000414066", "ENSEMBL:ENSP00000414066.2", "UMLS:C4705898", "MESH:C000627411"], "information_content": 92.8}
{"id": "UniProtKB:Q13617-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cullin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13617-2", "PR:Q13617-2", "ENSEMBL:ENSP00000414095", "ENSEMBL:ENSP00000414095.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCD3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Holliday junction recognition protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCD3-1", "PR:Q8NCD3-1", "ENSEMBL:ENSP00000414109", "ENSEMBL:ENSP00000414109.1"], "information_content": 100.0}
{"id": "NCBIGene:23111", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPART", "equivalent_identifiers": ["NCBIGene:23111", "ENSEMBL:ENSG00000133104", "HGNC:18514", "OMIM:607111", "UMLS:C1425570", "UniProtKB:A0A024RDV9", "UMLS:C1143089", "MESH:C464787", "UniProtKB:Q8N0X7", "PR:Q8N0X7", "ENSEMBL:ENSP00000347314", "ENSEMBL:ENSP00000347314.4", "ENSEMBL:ENSP00000406061", "ENSEMBL:ENSP00000406061.2", "ENSEMBL:ENSP00000414147", "ENSEMBL:ENSP00000414147.1", "ENSEMBL:ENSP00000473599", "ENSEMBL:ENSP00000473599.1", "ENSEMBL:ENSP00000497209", "ENSEMBL:ENSP00000497209.1"], "information_content": 88.2}
{"id": "UniProtKB:P11308-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcriptional regulator ERG isoform ERG-3 (human)", "equivalent_identifiers": ["UniProtKB:P11308-3", "PR:P11308-3", "ENSEMBL:ENSP00000381891", "ENSEMBL:ENSP00000381891.2", "ENSEMBL:ENSP00000414150", "ENSEMBL:ENSP00000414150.2"], "information_content": 100.0}
{"id": "MONDO:0003126", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "breast hemangioma", "equivalent_identifiers": ["MONDO:0003126", "DOID:476", "UMLS:C0853715", "MEDDRA:10018820", "MEDDRA:10055393", "NCIT:C5353", "medgen:163122"], "information_content": 92.8}
{"id": "MONDO:0008040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "transient myeloproliferative syndrome", "equivalent_identifiers": ["MONDO:0008040", "DOID:0060888", "OMIM:159595", "orphanet:420611", "UMLS:C1834582", "MESH:C563551", "NCIT:C82339", "SNOMEDCT:450934005", "SNOMEDCT:721307000", "medgen:331782", "ICD10:D47.7", "HP:0005534"], "information_content": 92.8}
{"id": "NCBIGene:8776", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTMR1", "equivalent_identifiers": ["NCBIGene:8776", "ENSEMBL:ENSG00000063601", "HGNC:7449", "OMIM:300171", "UMLS:C1417435", "UniProtKB:B7Z3D5", "UniProtKB:E9PPP8", "ENSEMBL:ENSP00000436957", "ENSEMBL:ENSP00000436957.2", "UniProtKB:F8WA39", "ENSEMBL:ENSP00000414178", "ENSEMBL:ENSP00000414178.2", "UniProtKB:Q13613", "PR:Q13613", "UMLS:C1431636", "MESH:C116467", "UniProtKB:Q8NEC6", "ENSEMBL:ENSP00000445281", "ENSEMBL:ENSP00000445281.1"]}
{"id": "NCBIGene:22870", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP6R1", "equivalent_identifiers": ["NCBIGene:22870", "ENSEMBL:ENSG00000105063", "HGNC:29195", "OMIM:610875", "UMLS:C1826977", "UniProtKB:Q9UPN7", "PR:Q9UPN7", "ENSEMBL:ENSP00000414202", "ENSEMBL:ENSP00000414202.1", "ENSEMBL:ENSP00000467521", "ENSEMBL:ENSP00000467521.1"], "information_content": 89.4}
{"id": "NCBIGene:57508", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INTS2", "equivalent_identifiers": ["NCBIGene:57508", "ENSEMBL:ENSG00000108506", "HGNC:29241", "OMIM:611346", "UMLS:C1825604", "UniProtKB:J3KMZ7", "ENSEMBL:ENSP00000251334", "ENSEMBL:ENSP00000251334.6", "ENSEMBL:ENSP00000496407", "ENSEMBL:ENSP00000496407.1", "UniProtKB:Q9H0H0", "PR:Q9H0H0", "ENSEMBL:ENSP00000414237", "ENSEMBL:ENSP00000414237.3"], "information_content": 86.3}
{"id": "MONDO:0001901", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IgG Deficiency", "equivalent_identifiers": ["MONDO:0001901", "DOID:14176", "UMLS:C0162539", "MESH:D017099", "MEDDRA:10021275", "MEDDRA:10057863", "NCIT:C27024", "SNOMEDCT:190981001", "medgen:56446", "ICD10:D80.3"], "information_content": 100.0}
{"id": "NCBIGene:4485", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MST1", "equivalent_identifiers": ["NCBIGene:4485", "ENSEMBL:ENSG00000173531", "HGNC:7380", "OMIM:142408", "UMLS:C1417377", "UniProtKB:G3XAK1", "ENSEMBL:ENSP00000414287", "ENSEMBL:ENSP00000414287.2", "UniProtKB:P26927", "PR:P26927", "UMLS:C1567781", "UniProtKB:Q53GN8"]}
{"id": "UniProtKB:P23560-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurotrophic factor BDNF precursor form isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P23560-4", "PR:P23560-4", "ENSEMBL:ENSP00000414303", "ENSEMBL:ENSP00000414303.1"], "information_content": 100.0}
{"id": "UniProtKB:P62847-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ribosomal subunit protein eS24 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P62847-4", "PR:P62847-4", "ENSEMBL:ENSP00000414321", "ENSEMBL:ENSP00000414321.1"], "information_content": 100.0}
{"id": "NCBIGene:284716", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RIMKLA", "equivalent_identifiers": ["NCBIGene:284716", "ENSEMBL:ENSG00000177181", "HGNC:28725", "OMIM:618949", "UMLS:C1825154", "UniProtKB:Q8IXN7", "PR:Q8IXN7", "ENSEMBL:ENSP00000414330", "ENSEMBL:ENSP00000414330.2"], "information_content": 95.4}
{"id": "UniProtKB:Q8N307-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mucin-20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N307-1", "PR:Q8N307-1", "ENSEMBL:ENSP00000414350", "ENSEMBL:ENSP00000414350.2", "ENSEMBL:ENSP00000479182", "ENSEMBL:ENSP00000479182.1", "ENSEMBL:ENSP00000479947", "ENSEMBL:ENSP00000479947.1", "ENSEMBL:ENSP00000483878", "ENSEMBL:ENSP00000483878.1"], "information_content": 100.0}
{"id": "UniProtKB:P25786-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proteasome subunit alpha type-1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P25786-2", "PR:P25786-2", "ENSEMBL:ENSP00000414359", "ENSEMBL:ENSP00000414359.2"], "information_content": 100.0}
{"id": "UniProtKB:P52798-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ephrin-A4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P52798-3", "PR:P52798-3", "ENSEMBL:ENSP00000414378", "ENSEMBL:ENSP00000414378.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRQ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 300 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRQ4-1", "PR:Q9BRQ4-1", "ENSEMBL:ENSP00000414390", "ENSEMBL:ENSP00000414390.2"], "information_content": 100.0}
{"id": "NCBIGene:100287238", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP17L13", "equivalent_identifiers": ["NCBIGene:100287238", "ENSEMBL:ENSG00000232399", "HGNC:44441", "UMLS:C3543009", "UniProtKB:C9JLJ4", "PR:C9JLJ4", "ENSEMBL:ENSP00000414392", "ENSEMBL:ENSP00000414392.1"], "information_content": 100.0}
{"id": "NCBIGene:51726", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJB11", "equivalent_identifiers": ["NCBIGene:51726", "ENSEMBL:ENSG00000090520", "HGNC:14889", "OMIM:611341", "UMLS:C1423028", "UniProtKB:Q9UBS4", "PR:Q9UBS4", "ENSEMBL:ENSP00000265028", "ENSEMBL:ENSP00000265028.3", "ENSEMBL:ENSP00000414398", "ENSEMBL:ENSP00000414398.1", "UMLS:C0960651", "MESH:C494648"], "information_content": 92.8}
{"id": "UniProtKB:Q15532-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SSXT isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15532-1", "PR:Q15532-1", "ENSEMBL:ENSP00000414516", "ENSEMBL:ENSP00000414516.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13495-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mastermind-like domain-containing protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13495-3", "PR:Q13495-3", "ENSEMBL:ENSP00000414517", "ENSEMBL:ENSP00000414517.2"], "information_content": 100.0}
{"id": "UniProtKB:O15344-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase Midline-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15344-1", "PR:O15344-1", "ENSEMBL:ENSP00000312678", "ENSEMBL:ENSP00000312678.4", "ENSEMBL:ENSP00000370156", "ENSEMBL:ENSP00000370156.1", "ENSEMBL:ENSP00000370157", "ENSEMBL:ENSP00000370157.1", "ENSEMBL:ENSP00000370162", "ENSEMBL:ENSP00000370162.1", "ENSEMBL:ENSP00000370164", "ENSEMBL:ENSP00000370164.1", "ENSEMBL:ENSP00000391154", "ENSEMBL:ENSP00000391154.2", "ENSEMBL:ENSP00000414521", "ENSEMBL:ENSP00000414521.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TB40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "(lyso)-N-acylphosphatidylethanolamine lipase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TB40-1", "PR:Q8TB40-1", "ENSEMBL:ENSP00000414558", "ENSEMBL:ENSP00000414558.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9HA90-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EF-hand and coiled-coil domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HA90-1", "PR:Q9HA90-1", "ENSEMBL:ENSP00000414597", "ENSEMBL:ENSP00000414597.3"], "information_content": 100.0}
{"id": "UniProtKB:Q14558-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoribosyl pyrophosphate synthase-associated protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q14558-2", "PR:Q14558-2", "ENSEMBL:ENSP00000414624", "ENSEMBL:ENSP00000414624.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZ02-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 34 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZ02-2", "PR:Q8IZ02-2", "ENSEMBL:ENSP00000414635", "ENSEMBL:ENSP00000414635.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N2R0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein odd-skipped-related 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N2R0-3", "PR:Q8N2R0-3", "ENSEMBL:ENSP00000414657", "ENSEMBL:ENSP00000414657.2"], "information_content": 100.0}
{"id": "UniProtKB:Q0VAK6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leiomodin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q0VAK6-1", "PR:Q0VAK6-1", "ENSEMBL:ENSP00000414670", "ENSEMBL:ENSP00000414670.3", "ENSEMBL:ENSP00000417210", "ENSEMBL:ENSP00000417210.1", "ENSEMBL:ENSP00000418645", "ENSEMBL:ENSP00000418645.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NX94-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WW domain binding protein 1-like isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NX94-2", "PR:Q9NX94-2", "ENSEMBL:ENSP00000414721", "ENSEMBL:ENSP00000414721.1"], "information_content": 100.0}
{"id": "UniProtKB:Q2VWA4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SKI family transcriptional corepressor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2VWA4-1", "PR:Q2VWA4-1", "ENSEMBL:ENSP00000414750", "ENSEMBL:ENSP00000414750.3", "ENSEMBL:ENSP00000483333", "ENSEMBL:ENSP00000483333.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6YI46-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 64 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6YI46-1", "PR:Q6YI46-1", "ENSEMBL:ENSP00000414786", "ENSEMBL:ENSP00000414786.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6IA86-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "elongator complex protein 2 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q6IA86-6", "PR:Q6IA86-6", "ENSEMBL:ENSP00000414851", "ENSEMBL:ENSP00000414851.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14515-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SPARC-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14515-1", "PR:Q14515-1", "ENSEMBL:ENSP00000282470", "ENSEMBL:ENSP00000282470.6", "ENSEMBL:ENSP00000414856", "ENSEMBL:ENSP00000414856.1"], "information_content": 100.0}
{"id": "NCBIGene:219844", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HYLS1", "equivalent_identifiers": ["NCBIGene:219844", "ENSEMBL:ENSG00000198331", "HGNC:26558", "OMIM:610693", "UMLS:C1825557", "UniProtKB:Q96M11", "PR:Q96M11", "ENSEMBL:ENSP00000348815", "ENSEMBL:ENSP00000348815.3", "ENSEMBL:ENSP00000414884", "ENSEMBL:ENSP00000414884.2", "ENSEMBL:ENSP00000436833", "ENSEMBL:ENSP00000436833.1", "UMLS:C1680625", "MESH:C505472"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZI2-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-type potassium channel modulatory protein KCNIP1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZI2-5", "PR:Q9NZI2-5", "ENSEMBL:ENSP00000414886", "ENSEMBL:ENSP00000414886.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJW0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynactin subunit 4 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJW0-3", "PR:Q9UJW0-3", "ENSEMBL:ENSP00000414906", "ENSEMBL:ENSP00000414906.2"], "information_content": 100.0}
{"id": "UniProtKB:A0AAG2QDU5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0AAG2QDU5_HUMAN Chromosome 1 open reading frame 167 (trembl)", "equivalent_identifiers": ["UniProtKB:A0AAG2QDU5", "ENSEMBL:ENSP00000414909", "ENSEMBL:ENSP00000414909.3"]}
{"id": "MONDO:0002695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sagittal sinus thrombosis", "equivalent_identifiers": ["MONDO:0002695", "DOID:3576", "UMLS:C0338575", "MESH:D020225", "MEDDRA:10039369", "MEDDRA:10042567", "SNOMEDCT:192760003", "SNOMEDCT:70607008", "medgen:90927"], "information_content": 100.0}
{"id": "UniProtKB:O95758-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypyrimidine tract-binding protein 3 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O95758-4", "PR:O95758-4", "ENSEMBL:ENSP00000414921", "ENSEMBL:ENSP00000414921.1"], "information_content": 100.0}
{"id": "UniProtKB:Q07866-10", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin light chain 1 isoform D (human)", "equivalent_identifiers": ["UniProtKB:Q07866-10", "PR:Q07866-10", "ENSEMBL:ENSP00000414982", "ENSEMBL:ENSP00000414982.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWU4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proton-coupled zinc antiporter SLC30A8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWU4-1", "PR:Q8IWU4-1", "ENSEMBL:ENSP00000415011", "ENSEMBL:ENSP00000415011.2"], "information_content": 100.0}
{"id": "UniProtKB:C9JH25-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich transmembrane protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:C9JH25-1", "PR:C9JH25-1", "ENSEMBL:ENSP00000415026", "ENSEMBL:ENSP00000415026.2", "ENSEMBL:ENSP00000445239", "ENSEMBL:ENSP00000445239.1"], "information_content": 100.0}
{"id": "NCBIGene:342346", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C16orf96", "equivalent_identifiers": ["NCBIGene:342346", "ENSEMBL:ENSG00000205832", "HGNC:40031", "UMLS:C3469754", "UniProtKB:A6NNT2", "PR:A6NNT2", "ENSEMBL:ENSP00000415027", "ENSEMBL:ENSP00000415027.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8WVE6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 171 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVE6-1", "PR:Q8WVE6-1", "ENSEMBL:ENSP00000415030", "ENSEMBL:ENSP00000415030.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZNJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurobeachin-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZNJ1-1", "PR:Q6ZNJ1-1", "ENSEMBL:ENSP00000415034", "ENSEMBL:ENSP00000415034.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAX9-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gasdermin-B isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAX9-4", "PR:Q8TAX9-4", "ENSEMBL:ENSP00000353465", "ENSEMBL:ENSP00000353465.3", "ENSEMBL:ENSP00000415049", "ENSEMBL:ENSP00000415049.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHP7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "piRNA biogenesis protein EXD1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHP7-3", "PR:Q8NHP7-3", "ENSEMBL:ENSP00000415056", "ENSEMBL:ENSP00000415056.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6PIF6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-VIIb isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PIF6-1", "PR:Q6PIF6-1", "ENSEMBL:ENSP00000415090", "ENSEMBL:ENSP00000415090.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86XR7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TIR domain-containing adapter molecule 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XR7-1", "PR:Q86XR7-1", "ENSEMBL:ENSP00000415139", "ENSEMBL:ENSP00000415139.3"], "information_content": 92.8}
{"id": "UniProtKB:Q13951-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "core-binding factor subunit beta isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q13951-2", "PR:Q13951-2", "ENSEMBL:ENSP00000415151", "ENSEMBL:ENSP00000415151.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5H8A4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GPI ethanolamine phosphate transferase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5H8A4-1", "PR:Q5H8A4-1", "ENSEMBL:ENSP00000415203", "ENSEMBL:ENSP00000415203.2"], "information_content": 100.0}
{"id": "UniProtKB:I3L0I5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "I3L0I5_HUMAN Nuclear pore complex interacting protein family member B7 (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:I3L0I5", "ENSEMBL:ENSP00000415207", "ENSEMBL:ENSP00000415207.4"]}
{"id": "UniProtKB:P12757-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ski-like protein isoform SNON (human)", "equivalent_identifiers": ["UniProtKB:P12757-1", "PR:P12757-1", "ENSEMBL:ENSP00000259119", "ENSEMBL:ENSP00000259119.4", "ENSEMBL:ENSP00000415243", "ENSEMBL:ENSP00000415243.3", "ENSEMBL:ENSP00000516712", "ENSEMBL:ENSP00000516712.1"], "information_content": 100.0}
{"id": "NCBIGene:3384", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ICAM2", "equivalent_identifiers": ["NCBIGene:3384", "ENSEMBL:ENSG00000108622", "HGNC:5345", "OMIM:146630", "UMLS:C1334075", "UniProtKB:P13598", "PR:P13598", "ENSEMBL:ENSP00000388666", "ENSEMBL:ENSP00000388666.1", "ENSEMBL:ENSP00000392634", "ENSEMBL:ENSP00000392634.2", "ENSEMBL:ENSP00000415283", "ENSEMBL:ENSP00000415283.1", "ENSEMBL:ENSP00000462579", "ENSEMBL:ENSP00000462579.1", "ENSEMBL:ENSP00000464665", "ENSEMBL:ENSP00000464665.1", "UMLS:C0083027", "UMLS:C1317964", "MESH:C065289", "UniProtKB:Q6FHE2"], "information_content": 82.6}
{"id": "UniProtKB:A6H8Z2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM221B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6H8Z2-1", "PR:A6H8Z2-1", "ENSEMBL:ENSP00000415299", "ENSEMBL:ENSP00000415299.2"], "information_content": 100.0}
{"id": "NCBIGene:91404", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SESTD1", "equivalent_identifiers": ["NCBIGene:91404", "ENSEMBL:ENSG00000187231", "HGNC:18379", "OMIM:621011", "UMLS:C1425484", "UniProtKB:B3KTX3", "UMLS:C2933654", "MESH:C549105", "UniProtKB:Q86VW0", "PR:Q86VW0", "ENSEMBL:ENSP00000415332", "ENSEMBL:ENSP00000415332.2"], "information_content": 90.9}
{"id": "NCBIGene:57761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIB3", "equivalent_identifiers": ["NCBIGene:57761", "ENSEMBL:ENSG00000101255", "HGNC:16228", "OMIM:607898", "UMLS:C1540055", "UniProtKB:B4DMM9", "UMLS:C1259051", "MESH:C474831", "UniProtKB:J3KR25", "ENSEMBL:ENSP00000415416", "ENSEMBL:ENSP00000415416.2", "UniProtKB:Q96RU7", "PR:Q96RU7", "ENSEMBL:ENSP00000217233", "ENSEMBL:ENSP00000217233.3", "ENSEMBL:ENSP00000391873", "ENSEMBL:ENSP00000391873.2", "ENSEMBL:ENSP00000478194", "ENSEMBL:ENSP00000478194.2", "ENSEMBL:ENSP00000519693", "ENSEMBL:ENSP00000519693.1", "ENSEMBL:ENSP00000519694", "ENSEMBL:ENSP00000519694.1", "ENSEMBL:ENSP00000519696", "ENSEMBL:ENSP00000519696.1", "ENSEMBL:ENSP00000519697", "ENSEMBL:ENSP00000519697.1"]}
{"id": "NCBIGene:51512", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GTSE1", "equivalent_identifiers": ["NCBIGene:51512", "ENSEMBL:ENSG00000075218", "HGNC:13698", "OMIM:607477", "UMLS:C1422149", "UniProtKB:Q9NYZ3", "PR:Q9NYZ3", "ENSEMBL:ENSP00000415430", "ENSEMBL:ENSP00000415430.1", "UMLS:C1431520", "MESH:C115080"], "information_content": 90.9}
{"id": "NCBIGene:57117", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INTS12", "equivalent_identifiers": ["NCBIGene:57117", "ENSEMBL:ENSG00000138785", "HGNC:25067", "OMIM:611355", "UMLS:C1825612", "UniProtKB:Q96CB8", "PR:Q96CB8", "ENSEMBL:ENSP00000340737", "ENSEMBL:ENSP00000340737.5", "ENSEMBL:ENSP00000378221", "ENSEMBL:ENSP00000378221.1", "ENSEMBL:ENSP00000415433", "ENSEMBL:ENSP00000415433.2", "UMLS:C3849918", "MESH:C000588765"], "information_content": 100.0}
{"id": "UniProtKB:Q9H9L4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KAT8 regulatory NSL complex subunit 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9L4-1", "PR:Q9H9L4-1", "ENSEMBL:ENSP00000415436", "ENSEMBL:ENSP00000415436.3"], "information_content": 100.0}
{"id": "NCBIGene:2650", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GCNT1", "equivalent_identifiers": ["NCBIGene:2650", "ENSEMBL:ENSG00000187210", "HGNC:4203", "OMIM:600391", "UMLS:C1415021", "UniProtKB:Q02742", "PR:Q02742", "ENSEMBL:ENSP00000365920", "ENSEMBL:ENSP00000365920.4", "ENSEMBL:ENSP00000390703", "ENSEMBL:ENSP00000390703.2", "ENSEMBL:ENSP00000415454", "ENSEMBL:ENSP00000415454.1", "UMLS:C1622795"], "information_content": 95.4}
{"id": "UniProtKB:Q71RC2-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "La-related protein 4 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q71RC2-4", "PR:Q71RC2-4", "ENSEMBL:ENSP00000415464", "ENSEMBL:ENSP00000415464.3"], "information_content": 100.0}
{"id": "UniProtKB:Q5SRN2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis-expressed basic protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SRN2-1", "PR:Q5SRN2-1", "ENSEMBL:ENSP00000372611", "ENSEMBL:ENSP00000372611.3", "ENSEMBL:ENSP00000415517", "ENSEMBL:ENSP00000415517.2", "ENSEMBL:ENSP00000485011", "ENSEMBL:ENSP00000485011.1"], "information_content": 100.0}
{"id": "UniProtKB:P52434-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P52434-4", "PR:P52434-4", "ENSEMBL:ENSP00000415536", "ENSEMBL:ENSP00000415536.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NI51-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcriptional repressor CTCFL isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q8NI51-7", "PR:Q8NI51-7", "ENSEMBL:ENSP00000415579", "ENSEMBL:ENSP00000415579.2"], "information_content": 100.0}
{"id": "NCBIGene:91227", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GGTLC2", "equivalent_identifiers": ["NCBIGene:91227", "ENSEMBL:ENSG00000100121", "HGNC:18596", "OMIM:612339", "UMLS:C2239489", "UniProtKB:A0A494C1J8", "ENSEMBL:ENSP00000499086", "ENSEMBL:ENSP00000499086.1", "UMLS:C5433715", "MESH:C000710129", "UniProtKB:Q14390", "PR:Q14390", "ENSEMBL:ENSP00000415676", "ENSEMBL:ENSP00000415676.2", "ENSEMBL:ENSP00000419751", "ENSEMBL:ENSP00000419751.1"], "information_content": 100.0}
{"id": "UniProtKB:P16671-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "platelet glycoprotein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P16671-1", "PR:P16671-1", "ENSEMBL:ENSP00000308165", "ENSEMBL:ENSP00000308165.7", "ENSEMBL:ENSP00000378268", "ENSEMBL:ENSP00000378268.3", "ENSEMBL:ENSP00000399421", "ENSEMBL:ENSP00000399421.1", "ENSEMBL:ENSP00000411411", "ENSEMBL:ENSP00000411411.1", "ENSEMBL:ENSP00000415743", "ENSEMBL:ENSP00000415743.2"], "information_content": 100.0}
{"id": "UniProtKB:Q06033-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inter-alpha-trypsin inhibitor heavy chain H3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q06033-1", "PR:Q06033-1", "ENSEMBL:ENSP00000415769", "ENSEMBL:ENSP00000415769.2"], "information_content": 100.0}
{"id": "NCBIGene:654254", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF732", "equivalent_identifiers": ["NCBIGene:654254", "ENSEMBL:ENSG00000186777", "HGNC:37138", "UMLS:C2681139", "UniProtKB:B4DXR9", "PR:B4DXR9", "ENSEMBL:ENSP00000415774", "ENSEMBL:ENSP00000415774.1"], "information_content": 92.8}
{"id": "MONDO:0005595", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "laryngeal squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0005595", "DOID:2876", "orphanet:494550", "EFO:0006352", "UMLS:C0280324", "MEDDRA:10023856", "NCIT:C4044", "SNOMEDCT:405822008", "SNOMEDCT:707358000", "medgen:83630"], "information_content": 75.0}
{"id": "UniProtKB:P07093-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glia-derived nexin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P07093-3", "PR:P07093-3", "ENSEMBL:ENSP00000415786", "ENSEMBL:ENSP00000415786.2"], "information_content": 100.0}
{"id": "NCBIGene:342371", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATXN1L", "equivalent_identifiers": ["NCBIGene:342371", "ENSEMBL:ENSG00000224470", "HGNC:33279", "OMIM:614301", "UMLS:C2239958", "UniProtKB:P0C7T5", "PR:P0C7T5", "ENSEMBL:ENSP00000415822", "ENSEMBL:ENSP00000415822.2", "ENSEMBL:ENSP00000507897", "ENSEMBL:ENSP00000507897.1", "UMLS:C1614465", "MESH:C504974"], "information_content": 100.0}
{"id": "UniProtKB:P0C0L5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CO4B_HUMAN Complement C4-B (sprot)", "equivalent_identifiers": ["UniProtKB:P0C0L5", "PR:P0C0L5", "ENSEMBL:ENSP00000364321", "ENSEMBL:ENSP00000364321.5", "ENSEMBL:ENSP00000407942", "ENSEMBL:ENSP00000407942.2", "ENSEMBL:ENSP00000412786", "ENSEMBL:ENSP00000412786.2", "ENSEMBL:ENSP00000414200", "ENSEMBL:ENSP00000414200.2", "ENSEMBL:ENSP00000415941", "ENSEMBL:ENSP00000415941.2", "UMLS:C4283922"], "information_content": 86.3}
{"id": "UniProtKB:Q6P1K1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heme transporter HRG1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P1K1-1", "PR:Q6P1K1-1", "ENSEMBL:ENSP00000415998", "ENSEMBL:ENSP00000415998.2"], "information_content": 100.0}
{"id": "UniProtKB:P78381-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-galactose translocator isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P78381-4", "PR:P78381-4", "ENSEMBL:ENSP00000416002", "ENSEMBL:ENSP00000416002.2", "ENSEMBL:ENSP00000518029", "ENSEMBL:ENSP00000518029.1"], "information_content": 100.0}
{"id": "NCBIGene:389333", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PROB1", "equivalent_identifiers": ["NCBIGene:389333", "ENSEMBL:ENSG00000228672", "HGNC:41906", "UMLS:C3541027", "UniProtKB:E7EW31", "PR:E7EW31", "ENSEMBL:ENSP00000416033", "ENSEMBL:ENSP00000416033.2", "UMLS:C4508395", "MESH:C000621462"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRS4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protease serine 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRS4-1", "PR:Q9NRS4-1", "ENSEMBL:ENSP00000416037", "ENSEMBL:ENSP00000416037.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCM3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UPF0606 protein KIAA1549 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCM3-1", "PR:Q9HCM3-1", "ENSEMBL:ENSP00000416040", "ENSEMBL:ENSP00000416040.2"], "information_content": 100.0}
{"id": "UniProtKB:P01009-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-1-antitrypsin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P01009-1", "PR:P01009-1", "ENSEMBL:ENSP00000348068", "ENSEMBL:ENSP00000348068.4", "ENSEMBL:ENSP00000376802", "ENSEMBL:ENSP00000376802.4", "ENSEMBL:ENSP00000376803", "ENSEMBL:ENSP00000376803.4", "ENSEMBL:ENSP00000385960", "ENSEMBL:ENSP00000385960.4", "ENSEMBL:ENSP00000390299", "ENSEMBL:ENSP00000390299.1", "ENSEMBL:ENSP00000408474", "ENSEMBL:ENSP00000408474.1", "ENSEMBL:ENSP00000416066", "ENSEMBL:ENSP00000416066.1", "ENSEMBL:ENSP00000416354", "ENSEMBL:ENSP00000416354.3", "ENSEMBL:ENSP00000490054", "ENSEMBL:ENSP00000490054.1"], "information_content": 100.0}
{"id": "UniProtKB:Q08379-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "golgin subfamily A member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q08379-1", "PR:Q08379-1", "ENSEMBL:ENSP00000416097", "ENSEMBL:ENSP00000416097.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXL2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 38 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXL2-2", "PR:Q9NXL2-2", "ENSEMBL:ENSP00000416125", "ENSEMBL:ENSP00000416125.2"], "information_content": 100.0}
{"id": "MONDO:0011523", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 6", "equivalent_identifiers": ["MONDO:0011523", "DOID:0110128", "OMIM:605231", "UMLS:C1858054", "MESH:C565738", "medgen:347610"], "information_content": 100.0}
{"id": "UniProtKB:O15547-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "P2X purinoceptor 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15547-1", "PR:O15547-1", "ENSEMBL:ENSP00000416193", "ENSEMBL:ENSP00000416193.2"], "information_content": 100.0}
{"id": "NCBIGene:645073", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GAGE12G", "equivalent_identifiers": ["NCBIGene:645073", "ENSEMBL:ENSG00000215269", "HGNC:31907", "OMIM:300731", "UMLS:C1825336", "UniProtKB:P0CL81", "PR:P0CL81", "ENSEMBL:ENSP00000416249", "ENSEMBL:ENSP00000416249.1"], "information_content": 100.0}
{"id": "MONDO:0003940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Kummell disease", "equivalent_identifiers": ["MONDO:0003940", "DOID:6603", "UMLS:C0152088", "MEDDRA:10041677", "MEDDRA:10044543", "SNOMEDCT:111232005", "SNOMEDCT:240218006", "medgen:508880", "ICD10:M48.3", "ICD9:721.7"], "information_content": 100.0}
{"id": "UniProtKB:Q14232-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "translation initiation factor eIF2B subunit alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14232-1", "PR:Q14232-1", "ENSEMBL:ENSP00000416250", "ENSEMBL:ENSP00000416250.2"], "information_content": 100.0}
{"id": "UniProtKB:Q04637-9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 4 gamma 1 isoform h9 (human)", "equivalent_identifiers": ["UniProtKB:Q04637-9", "PR:Q04637-9", "ENSEMBL:ENSP00000338020", "ENSEMBL:ENSP00000338020.4", "ENSEMBL:ENSP00000371767", "ENSEMBL:ENSP00000371767.3", "ENSEMBL:ENSP00000416255", "ENSEMBL:ENSP00000416255.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13838-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spliceosome RNA helicase DDX39B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13838-1", "PR:Q13838-1", "ENSEMBL:ENSP00000373000", "ENSEMBL:ENSP00000373000.2", "ENSEMBL:ENSP00000379475", "ENSEMBL:ENSP00000379475.1", "ENSEMBL:ENSP00000383151", "ENSEMBL:ENSP00000383151.1", "ENSEMBL:ENSP00000383152", "ENSEMBL:ENSP00000383152.1", "ENSEMBL:ENSP00000387994", "ENSEMBL:ENSP00000387994.1", "ENSEMBL:ENSP00000388880", "ENSEMBL:ENSP00000388880.1", "ENSEMBL:ENSP00000390999", "ENSEMBL:ENSP00000390999.1", "ENSEMBL:ENSP00000391463", "ENSEMBL:ENSP00000391463.1", "ENSEMBL:ENSP00000393712", "ENSEMBL:ENSP00000393712.1", "ENSEMBL:ENSP00000394160", "ENSEMBL:ENSP00000394160.1", "ENSEMBL:ENSP00000398775", "ENSEMBL:ENSP00000398775.1", "ENSEMBL:ENSP00000399030", "ENSEMBL:ENSP00000399030.1", "ENSEMBL:ENSP00000400326", "ENSEMBL:ENSP00000400326.1", "ENSEMBL:ENSP00000404695", "ENSEMBL:ENSP00000404695.1", "ENSEMBL:ENSP00000405560", "ENSEMBL:ENSP00000405560.1", "ENSEMBL:ENSP00000407419", "ENSEMBL:ENSP00000407419.1", "ENSEMBL:ENSP00000411136", "ENSEMBL:ENSP00000411136.1", "ENSEMBL:ENSP00000411853", "ENSEMBL:ENSP00000411853.1", "ENSEMBL:ENSP00000416269", "ENSEMBL:ENSP00000416269.1"], "information_content": 100.0}
{"id": "NCBIGene:6513", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC2A1", "equivalent_identifiers": ["NCBIGene:6513", "ENSEMBL:ENSG00000117394", "HGNC:11005", "OMIM:138140", "UMLS:C1335837", "UniProtKB:P11166", "PR:P11166", "ENSEMBL:ENSP00000416293", "ENSEMBL:ENSP00000416293.2", "UMLS:C1504631", "MESH:C495677", "UniProtKB:Q59GX2"], "information_content": 86.3}
{"id": "NCBIGene:7045", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGFBI", "equivalent_identifiers": ["NCBIGene:7045", "ENSEMBL:ENSG00000120708", "HGNC:11771", "OMIM:601692", "UMLS:C1336623", "UniProtKB:A0A0S2Z4Q2", "UniProtKB:Q15582", "PR:Q15582", "ENSEMBL:ENSP00000416330", "ENSEMBL:ENSP00000416330.2", "UMLS:C1527805"], "information_content": 85.5}
{"id": "MONDO:0020213", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "stromal corneal dystrophy", "equivalent_identifiers": ["MONDO:0020213", "DOID:0060442", "orphanet:98626", "UMLS:C0038457", "SNOMEDCT:231931001", "medgen:20973", "icd11.foundation:1392780216"], "information_content": 82.6}
{"id": "UniProtKB:O95140-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitofusin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95140-1", "PR:O95140-1", "ENSEMBL:ENSP00000235329", "ENSEMBL:ENSP00000235329.5", "ENSEMBL:ENSP00000416338", "ENSEMBL:ENSP00000416338.1", "ENSEMBL:ENSP00000501646", "ENSEMBL:ENSP00000501646.1", "ENSEMBL:ENSP00000501716", "ENSEMBL:ENSP00000501716.1", "ENSEMBL:ENSP00000501776", "ENSEMBL:ENSP00000501776.1", "ENSEMBL:ENSP00000502151", "ENSEMBL:ENSP00000502151.1", "ENSEMBL:ENSP00000502185", "ENSEMBL:ENSP00000502185.1", "ENSEMBL:ENSP00000502362", "ENSEMBL:ENSP00000502362.1", "ENSEMBL:ENSP00000502404", "ENSEMBL:ENSP00000502404.1", "ENSEMBL:ENSP00000502623", "ENSEMBL:ENSP00000502623.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99435-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein kinase C-binding protein NELL2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q99435-3", "PR:Q99435-3", "ENSEMBL:ENSP00000416341", "ENSEMBL:ENSP00000416341.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUP2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "filamin-binding LIM protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUP2-2", "PR:Q8WUP2-2", "ENSEMBL:ENSP00000416387", "ENSEMBL:ENSP00000416387.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2E8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/hydrogen exchanger 8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2E8-2", "PR:Q9Y2E8-2", "ENSEMBL:ENSP00000416418", "ENSEMBL:ENSP00000416418.1"], "information_content": 100.0}
{"id": "NCBIGene:6161", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL32", "equivalent_identifiers": ["NCBIGene:6161", "ENSEMBL:ENSG00000144713", "HGNC:10336", "UMLS:C1419659", "UniProtKB:P62910", "PR:P62910", "ENSEMBL:ENSP00000380156", "ENSEMBL:ENSP00000380156.2", "ENSEMBL:ENSP00000380158", "ENSEMBL:ENSP00000380158.1", "ENSEMBL:ENSP00000388674", "ENSEMBL:ENSP00000388674.1", "ENSEMBL:ENSP00000416429", "ENSEMBL:ENSP00000416429.2"], "information_content": 88.2}
{"id": "UniProtKB:Q9H7F0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyamine-transporting ATPase 13A3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H7F0-1", "PR:Q9H7F0-1", "ENSEMBL:ENSP00000416508", "ENSEMBL:ENSP00000416508.1", "ENSEMBL:ENSP00000494471", "ENSEMBL:ENSP00000494471.1"], "information_content": 100.0}
{"id": "NCBIGene:2232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FDXR", "equivalent_identifiers": ["NCBIGene:2232", "ENSEMBL:ENSG00000161513", "HGNC:3642", "OMIM:103270", "UMLS:C1414575", "UniProtKB:A0A0A0MSZ4", "ENSEMBL:ENSP00000408595", "ENSEMBL:ENSP00000408595.2", "UMLS:C5882329", "MESH:C000729797", "UniProtKB:A0A0A0MT64", "ENSEMBL:ENSP00000416515", "ENSEMBL:ENSP00000416515.2", "UniProtKB:A0A0A0MTN9", "ENSEMBL:ENSP00000445432", "ENSEMBL:ENSP00000445432.1", "UniProtKB:A0A0A0MTR6", "ENSEMBL:ENSP00000462183", "ENSEMBL:ENSP00000462183.1", "UniProtKB:A0A0C4DFN8", "ENSEMBL:ENSP00000293195", "ENSEMBL:ENSP00000293195.5", "UniProtKB:A0A0C4DGN7", "ENSEMBL:ENSP00000462972", "ENSEMBL:ENSP00000462972.1", "UniProtKB:P22570", "PR:P22570"]}
{"id": "UniProtKB:Q92854-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "semaphorin-4D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92854-1", "PR:Q92854-1", "ENSEMBL:ENSP00000348822", "ENSEMBL:ENSP00000348822.2", "ENSEMBL:ENSP00000388768", "ENSEMBL:ENSP00000388768.2", "ENSEMBL:ENSP00000405102", "ENSEMBL:ENSP00000405102.2", "ENSEMBL:ENSP00000416523", "ENSEMBL:ENSP00000416523.1"], "information_content": 100.0}
{"id": "NCBIGene:9879", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX46", "equivalent_identifiers": ["NCBIGene:9879", "ENSEMBL:ENSG00000145833", "HGNC:18681", "OMIM:617848", "UMLS:C1425701", "UniProtKB:A0A0C4DG89", "ENSEMBL:ENSP00000416534", "ENSEMBL:ENSP00000416534.2", "UMLS:C1171949", "MESH:C467585", "UniProtKB:Q7L014", "PR:Q7L014", "ENSEMBL:ENSP00000346236", "ENSEMBL:ENSP00000346236.4"]}
{"id": "UniProtKB:O75426-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 24 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O75426-3", "PR:O75426-3", "ENSEMBL:ENSP00000416558", "ENSEMBL:ENSP00000416558.2"], "information_content": 100.0}
{"id": "UniProtKB:P00751-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complement factor B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P00751-1", "PR:P00751-1", "ENSEMBL:ENSP00000388352", "ENSEMBL:ENSP00000388352.2", "ENSEMBL:ENSP00000389604", "ENSEMBL:ENSP00000389604.2", "ENSEMBL:ENSP00000391902", "ENSEMBL:ENSP00000391902.2", "ENSEMBL:ENSP00000401719", "ENSEMBL:ENSP00000401719.1", "ENSEMBL:ENSP00000411515", "ENSEMBL:ENSP00000411515.2", "ENSEMBL:ENSP00000413351", "ENSEMBL:ENSP00000413351.1", "ENSEMBL:ENSP00000414341", "ENSEMBL:ENSP00000414341.1", "ENSEMBL:ENSP00000414889", "ENSEMBL:ENSP00000414889.1", "ENSEMBL:ENSP00000416561", "ENSEMBL:ENSP00000416561.2"], "information_content": 100.0}
{"id": "NCBIGene:51071", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DERA", "equivalent_identifiers": ["NCBIGene:51071", "ENSEMBL:ENSG00000023697", "HGNC:24269", "OMIM:619668", "UMLS:C1539269", "UniProtKB:E9PPM8", "ENSEMBL:ENSP00000436999", "ENSEMBL:ENSP00000436999.1", "UniProtKB:G3V158", "ENSEMBL:ENSP00000431757", "ENSEMBL:ENSP00000431757.1", "UniProtKB:Q9Y315", "PR:Q9Y315", "ENSEMBL:ENSP00000416583", "ENSEMBL:ENSP00000416583.2"], "information_content": 92.8}
{"id": "NCBIGene:2488", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FSHB", "equivalent_identifiers": ["NCBIGene:2488", "ENSEMBL:ENSG00000131808", "HGNC:3964", "OMIM:136530", "UMLS:C1414824", "UniProtKB:A0A0F7RQE8", "UniProtKB:P01225", "PR:P01225", "ENSEMBL:ENSP00000254122", "ENSEMBL:ENSP00000254122.3", "ENSEMBL:ENSP00000416606", "ENSEMBL:ENSP00000416606.1", "ENSEMBL:ENSP00000433424", "ENSEMBL:ENSP00000433424.1", "UMLS:C4082585"], "information_content": 82.6}
{"id": "NCBIGene:349075", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF713", "equivalent_identifiers": ["NCBIGene:349075", "ENSEMBL:ENSG00000178665", "HGNC:22043", "OMIM:616181", "UMLS:C1824016", "UniProtKB:A0A8I5JYA4", "ENSEMBL:ENSP00000487818", "ENSEMBL:ENSP00000487818.1", "UniProtKB:Q8N859", "PR:Q8N859", "ENSEMBL:ENSP00000416662", "ENSEMBL:ENSP00000416662.3", "UMLS:C4041916", "MESH:C000598898"], "information_content": 100.0}
{"id": "NCBIGene:197135", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PATL2", "equivalent_identifiers": ["NCBIGene:197135", "ENSEMBL:ENSG00000229474", "HGNC:33630", "OMIM:614661", "UMLS:C2239800", "UniProtKB:C9JE40", "PR:C9JE40", "ENSEMBL:ENSP00000416673", "ENSEMBL:ENSP00000416673.1", "ENSEMBL:ENSP00000508024", "ENSEMBL:ENSP00000508024.1", "UMLS:C5196875", "MESH:C000630341", "UniProtKB:H0YMQ2", "ENSEMBL:ENSP00000453695", "ENSEMBL:ENSP00000453695.1"], "information_content": 100.0}
{"id": "UniProtKB:P35858-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "insulin-like growth factor-binding protein complex acid labile subunit isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P35858-2", "PR:P35858-2", "ENSEMBL:ENSP00000416683", "ENSEMBL:ENSP00000416683.3"], "information_content": 100.0}
{"id": "UniProtKB:Q4ADV7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide exchange factor subunit RIC1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4ADV7-1", "PR:Q4ADV7-1", "ENSEMBL:ENSP00000416696", "ENSEMBL:ENSP00000416696.2"], "information_content": 100.0}
{"id": "NCBIGene:345651", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTBL2", "equivalent_identifiers": ["NCBIGene:345651", "ENSEMBL:ENSG00000169067", "HGNC:17780", "OMIM:614835", "UMLS:C1538904", "UniProtKB:Q562R1", "PR:Q562R1", "ENSEMBL:ENSP00000416706", "ENSEMBL:ENSP00000416706.1"], "information_content": 87.2}
{"id": "UniProtKB:Q5GH73-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "XK-related protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5GH73-1", "PR:Q5GH73-1", "ENSEMBL:ENSP00000416707", "ENSEMBL:ENSP00000416707.2"], "information_content": 100.0}
{"id": "NCBIGene:5965", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RECQL", "equivalent_identifiers": ["NCBIGene:5965", "ENSEMBL:ENSG00000004700", "HGNC:9948", "OMIM:600537", "UMLS:C1335609", "UniProtKB:P46063", "PR:P46063", "ENSEMBL:ENSP00000395449", "ENSEMBL:ENSP00000395449.2", "ENSEMBL:ENSP00000416739", "ENSEMBL:ENSP00000416739.2", "UMLS:C1506962", "MESH:C506725"], "information_content": 88.2}
{"id": "NCBIGene:64711", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HS3ST6", "equivalent_identifiers": ["NCBIGene:64711", "ENSEMBL:ENSG00000162040", "HGNC:14178", "OMIM:619210", "UMLS:C1422466", "UniProtKB:Q96QI5", "PR:Q96QI5", "ENSEMBL:ENSP00000293937", "ENSEMBL:ENSP00000293937.3", "ENSEMBL:ENSP00000416741", "ENSEMBL:ENSP00000416741.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYT3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase 33 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYT3-1", "PR:Q9BYT3-1", "ENSEMBL:ENSP00000320754", "ENSEMBL:ENSP00000320754.1", "ENSEMBL:ENSP00000379905", "ENSEMBL:ENSP00000379905.1", "ENSEMBL:ENSP00000416750", "ENSEMBL:ENSP00000416750.1", "ENSEMBL:ENSP00000509322", "ENSEMBL:ENSP00000509322.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCW6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypeptide N-acetylgalactosaminyltransferase 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCW6-1", "PR:Q8NCW6-1", "ENSEMBL:ENSP00000395122", "ENSEMBL:ENSP00000395122.2", "ENSEMBL:ENSP00000416787", "ENSEMBL:ENSP00000416787.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P1Y5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calmodulin-regulated spectrin-associated protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9P1Y5-2", "PR:Q9P1Y5-2", "ENSEMBL:ENSP00000416797", "ENSEMBL:ENSP00000416797.1"], "information_content": 100.0}
{"id": "NCBIGene:9825", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA2", "equivalent_identifiers": ["NCBIGene:9825", "ENSEMBL:ENSG00000158480", "HGNC:14681", "OMIM:607662", "UMLS:C1422836", "UniProtKB:A8K0S9", "UMLS:C0966006", "MESH:C425523", "UniProtKB:B4DID4", "UniProtKB:Q9UM82", "PR:Q9UM82", "ENSEMBL:ENSP00000289431", "ENSEMBL:ENSP00000289431.5", "ENSEMBL:ENSP00000416799", "ENSEMBL:ENSP00000416799.1", "UMLS:C4724732"], "information_content": 100.0}
{"id": "UniProtKB:P62995-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transformer-2 protein homolog beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62995-1", "PR:P62995-1", "ENSEMBL:ENSP00000416959", "ENSEMBL:ENSP00000416959.2"], "information_content": 100.0}
{"id": "NCBIGene:1238", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACKR2", "equivalent_identifiers": ["NCBIGene:1238", "ENSEMBL:ENSG00000144648", "HGNC:1565", "OMIM:602648", "UMLS:C1332673", "UniProtKB:O00590", "PR:O00590", "ENSEMBL:ENSP00000396150", "ENSEMBL:ENSP00000396150.1", "ENSEMBL:ENSP00000416996", "ENSEMBL:ENSP00000416996.1", "UMLS:C1872960", "MESH:C515708"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZWE6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family M member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZWE6-1", "PR:Q6ZWE6-1", "ENSEMBL:ENSP00000417003", "ENSEMBL:ENSP00000417003.2"], "information_content": 100.0}
{"id": "NCBIGene:342918", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C19orf81", "equivalent_identifiers": ["NCBIGene:342918", "ENSEMBL:ENSG00000235034", "HGNC:40041", "UMLS:C3469760", "UniProtKB:C9J6K1", "PR:C9J6K1", "ENSEMBL:ENSP00000417035", "ENSEMBL:ENSP00000417035.1"], "information_content": 100.0}
{"id": "UniProtKB:O75167-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatase and actin regulator 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O75167-4", "PR:O75167-4", "ENSEMBL:ENSP00000417038", "ENSEMBL:ENSP00000417038.2"], "information_content": 100.0}
{"id": "UniProtKB:B4E171", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B4E171_HUMAN Tetraspanin-7 (trembl)", "equivalent_identifiers": ["UniProtKB:B4E171", "ENSEMBL:ENSP00000417050", "ENSEMBL:ENSP00000417050.1"]}
{"id": "NCBIGene:10682", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EBP", "equivalent_identifiers": ["NCBIGene:10682", "ENSEMBL:ENSG00000147155", "HGNC:3133", "OMIM:300205", "UMLS:C1414236", "UniProtKB:A0A024QYX0", "UniProtKB:Q15125", "PR:Q15125", "ENSEMBL:ENSP00000417052", "ENSEMBL:ENSP00000417052.1", "UMLS:C1435829", "MESH:C090445"], "information_content": 92.8}
{"id": "MONDO:0012690", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 5", "equivalent_identifiers": ["MONDO:0012690", "DOID:0060583", "OMIM:611553", "UMLS:C1969057", "MESH:C548083", "NCIT:C176933", "medgen:370589"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0B2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 74 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0B2-1", "PR:Q9C0B2-1", "ENSEMBL:ENSP00000417061", "ENSEMBL:ENSP00000417061.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2U1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent DNA/RNA helicase DHX36 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2U1-1", "PR:Q9H2U1-1", "ENSEMBL:ENSP00000417078", "ENSEMBL:ENSP00000417078.1"], "information_content": 100.0}
{"id": "UniProtKB:Q16348-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 15 member 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16348-1", "PR:Q16348-1", "ENSEMBL:ENSP00000417085", "ENSEMBL:ENSP00000417085.1"], "information_content": 100.0}
{"id": "NCBIGene:8314", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BAP1", "equivalent_identifiers": ["NCBIGene:8314", "ENSEMBL:ENSG00000163930", "HGNC:950", "OMIM:603089", "UMLS:C1332380", "UniProtKB:F8W6N3", "ENSEMBL:ENSP00000296288", "ENSEMBL:ENSP00000296288.5", "UniProtKB:Q92560", "PR:Q92560", "ENSEMBL:ENSP00000417132", "ENSEMBL:ENSP00000417132.1", "UMLS:C1368335", "MESH:C400134"], "information_content": 92.8}
{"id": "UniProtKB:P55058-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid transfer protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P55058-1", "PR:P55058-1", "ENSEMBL:ENSP00000361508", "ENSEMBL:ENSP00000361508.3", "ENSEMBL:ENSP00000417138", "ENSEMBL:ENSP00000417138.1"], "information_content": 95.4}
{"id": "UniProtKB:Q16718-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16718-2", "PR:Q16718-2", "ENSEMBL:ENSP00000417142", "ENSEMBL:ENSP00000417142.1"], "information_content": 100.0}
{"id": "NCBIGene:4935", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR143", "equivalent_identifiers": ["NCBIGene:4935", "ENSEMBL:ENSG00000101850", "HGNC:20145", "OMIM:300808", "UMLS:C1426729", "UniProtKB:P51810", "PR:P51810", "ENSEMBL:ENSP00000417161", "ENSEMBL:ENSP00000417161.1", "UMLS:C1307553", "MESH:C095276"], "information_content": 100.0}
{"id": "UniProtKB:Q96LB4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-type proton ATPase subunit G 3 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96LB4-4", "PR:Q96LB4-4", "ENSEMBL:ENSP00000417171", "ENSEMBL:ENSP00000417171.1", "ENSEMBL:ENSP00000461228", "ENSEMBL:ENSP00000461228.1"], "information_content": 100.0}
{"id": "UniProtKB:O95292-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vesicle-associated membrane protein-associated protein B/C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95292-1", "PR:O95292-1", "ENSEMBL:ENSP00000417175", "ENSEMBL:ENSP00000417175.1"], "information_content": 100.0}
{"id": "NCBIGene:135656", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUCL3", "equivalent_identifiers": ["NCBIGene:135656", "ENSEMBL:ENSG00000168631", "HGNC:21666", "OMIM:613928", "UMLS:C1427687", "UniProtKB:E9PEI6", "ENSEMBL:ENSP00000417182", "ENSEMBL:ENSP00000417182.1", "UMLS:C1143862", "MESH:C466100", "UniProtKB:Q3MIW9", "PR:Q3MIW9"]}
{"id": "UniProtKB:Q16829-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity protein phosphatase 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16829-1", "PR:Q16829-1", "ENSEMBL:ENSP00000417183", "ENSEMBL:ENSP00000417183.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6PCB0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "von Willebrand factor A domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PCB0-1", "PR:Q6PCB0-1", "ENSEMBL:ENSP00000417185", "ENSEMBL:ENSP00000417185.1"], "information_content": 100.0}
{"id": "NCBIGene:91647", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATPAF2", "equivalent_identifiers": ["NCBIGene:91647", "ENSEMBL:ENSG00000171953", "HGNC:18802", "OMIM:608918", "UMLS:C1425786", "UniProtKB:Q8N5M1", "PR:Q8N5M1", "ENSEMBL:ENSP00000417190", "ENSEMBL:ENSP00000417190.2", "UMLS:C1313477", "MESH:C484671"], "information_content": 90.9}
{"id": "UniProtKB:P57723-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly(rC)-binding protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P57723-1", "PR:P57723-1", "ENSEMBL:ENSP00000322341", "ENSEMBL:ENSP00000322341.7", "ENSEMBL:ENSP00000348111", "ENSEMBL:ENSP00000348111.2", "ENSEMBL:ENSP00000417196", "ENSEMBL:ENSP00000417196.1"], "information_content": 100.0}
{"id": "UniProtKB:P14651-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Hox-B3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P14651-1", "PR:P14651-1", "ENSEMBL:ENSP00000308252", "ENSEMBL:ENSP00000308252.4", "ENSEMBL:ENSP00000417207", "ENSEMBL:ENSP00000417207.1", "ENSEMBL:ENSP00000418892", "ENSEMBL:ENSP00000418892.1", "ENSEMBL:ENSP00000420595", "ENSEMBL:ENSP00000420595.1"], "information_content": 100.0}
{"id": "UniProtKB:Q460N3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein mono-ADP-ribosyltransferase PARP15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q460N3-1", "PR:Q460N3-1", "ENSEMBL:ENSP00000417214", "ENSEMBL:ENSP00000417214.2"], "information_content": 100.0}
{"id": "NCBIGene:1360", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPB1", "equivalent_identifiers": ["NCBIGene:1360", "ENSEMBL:ENSG00000153002", "HGNC:2299", "OMIM:114852", "UMLS:C1413665", "UniProtKB:P15086", "PR:P15086", "ENSEMBL:ENSP00000282957", "ENSEMBL:ENSP00000282957.4", "ENSEMBL:ENSP00000417222", "ENSEMBL:ENSP00000417222.1", "UMLS:C1447064", "MESH:C058173"], "information_content": 84.2}
{"id": "UniProtKB:Q9BY44-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY44-1", "PR:Q9BY44-1", "ENSEMBL:ENSP00000417229", "ENSEMBL:ENSP00000417229.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86YW9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 12-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YW9-1", "PR:Q86YW9-1", "ENSEMBL:ENSP00000417235", "ENSEMBL:ENSP00000417235.1"], "information_content": 100.0}
{"id": "UniProtKB:P16333-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH2/SH3 adapter protein NCK1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P16333-1", "PR:P16333-1", "ENSEMBL:ENSP00000288986", "ENSEMBL:ENSP00000288986.2", "ENSEMBL:ENSP00000417273", "ENSEMBL:ENSP00000417273.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BWE0-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-binding protein REPIN1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BWE0-4", "PR:Q9BWE0-4", "ENSEMBL:ENSP00000417291", "ENSEMBL:ENSP00000417291.2"], "information_content": 100.0}
{"id": "UniProtKB:O95600-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "krueppel-like factor 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95600-1", "PR:O95600-1", "ENSEMBL:ENSP00000417303", "ENSEMBL:ENSP00000417303.1"], "information_content": 100.0}
{"id": "NCBIGene:440050", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP5-7", "equivalent_identifiers": ["NCBIGene:440050", "ENSEMBL:ENSG00000244411", "HGNC:23602", "UMLS:C1428150", "UniProtKB:Q6L8G8", "PR:Q6L8G8", "ENSEMBL:ENSP00000417330", "ENSEMBL:ENSP00000417330.2", "UMLS:C1956463"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCK4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "roundabout homolog 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCK4-3", "PR:Q9HCK4-3", "ENSEMBL:ENSP00000417335", "ENSEMBL:ENSP00000417335.2"], "information_content": 100.0}
{"id": "NCBIGene:27333", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOLIM4", "equivalent_identifiers": ["NCBIGene:27333", "ENSEMBL:ENSG00000173905", "HGNC:15448", "OMIM:606805", "UMLS:C1423494", "UniProtKB:F8W785", "ENSEMBL:ENSP00000309893", "ENSEMBL:ENSP00000309893.4", "UMLS:C0664013", "MESH:C107340", "UniProtKB:O00461", "PR:O00461", "ENSEMBL:ENSP00000417354", "ENSEMBL:ENSP00000417354.1", "UMLS:C3539619"], "information_content": 83.1}
{"id": "UniProtKB:Q16864-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "V-type proton ATPase subunit F isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16864-2", "PR:Q16864-2", "ENSEMBL:ENSP00000417378", "ENSEMBL:ENSP00000417378.1"], "information_content": 100.0}
{"id": "NCBIGene:85441", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HELZ2", "equivalent_identifiers": ["NCBIGene:85441", "ENSEMBL:ENSG00000130589", "HGNC:30021", "OMIM:611265", "UMLS:C1970004", "UniProtKB:A0AAA9XBX5", "ENSEMBL:ENSP00000417401", "ENSEMBL:ENSP00000417401.1", "UniProtKB:Q9BYK8", "PR:Q9BYK8", "UMLS:C5828789", "MESH:C000727051"]}
{"id": "UniProtKB:Q96PZ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pseudouridylate synthase 7 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PZ0-1", "PR:Q96PZ0-1", "ENSEMBL:ENSP00000348722", "ENSEMBL:ENSP00000348722.2", "ENSEMBL:ENSP00000417402", "ENSEMBL:ENSP00000417402.1"], "information_content": 100.0}
{"id": "UniProtKB:Q30201-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hereditary hemochromatosis protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q30201-1", "PR:Q30201-1", "ENSEMBL:ENSP00000417404", "ENSEMBL:ENSP00000417404.1"], "information_content": 100.0}
{"id": "NCBIGene:165721", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJB8", "equivalent_identifiers": ["NCBIGene:165721", "ENSEMBL:ENSG00000179407", "HGNC:23699", "OMIM:611337", "UMLS:C1428203", "UniProtKB:A0A140VJI2", "UMLS:C3656966", "MESH:C582953", "UniProtKB:Q8NHS0", "PR:Q8NHS0", "ENSEMBL:ENSP00000316053", "ENSEMBL:ENSP00000316053.3", "ENSEMBL:ENSP00000417418", "ENSEMBL:ENSP00000417418.1"], "information_content": 100.0}
{"id": "NCBIGene:139804", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBMXL3", "equivalent_identifiers": ["NCBIGene:139804", "ENSEMBL:ENSG00000175718", "HGNC:26859", "OMIM:301136", "UMLS:C1824832", "UniProtKB:Q8N7X1", "PR:Q8N7X1", "ENSEMBL:ENSP00000417451", "ENSEMBL:ENSP00000417451.3"], "information_content": 100.0}
{"id": "NCBIGene:8568", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RRP1", "equivalent_identifiers": ["NCBIGene:8568", "ENSEMBL:ENSG00000160214", "HGNC:18785", "OMIM:610653", "UMLS:C1857700", "UniProtKB:P56182", "PR:P56182", "ENSEMBL:ENSP00000417464", "ENSEMBL:ENSP00000417464.1", "UMLS:C0664286", "MESH:C107468"], "information_content": 95.4}
{"id": "UniProtKB:Q8N393-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 786 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N393-1", "PR:Q8N393-1", "ENSEMBL:ENSP00000417470", "ENSEMBL:ENSP00000417470.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXM9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FSD1-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXM9-1", "PR:Q9BXM9-1", "ENSEMBL:ENSP00000417492", "ENSEMBL:ENSP00000417492.1"], "information_content": 100.0}
{"id": "MONDO:0014439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 11", "equivalent_identifiers": ["MONDO:0014439", "DOID:0110133", "OMIM:615988", "UMLS:C1859569", "MESH:C565920", "medgen:395295"], "information_content": 100.0}
{"id": "UniProtKB:Q99102-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mucin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99102-1", "PR:Q99102-1", "ENSEMBL:ENSP00000417498", "ENSEMBL:ENSP00000417498.3"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEM7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor SPT20 homolog isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEM7-3", "PR:Q8NEM7-3", "ENSEMBL:ENSP00000417510", "ENSEMBL:ENSP00000417510.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6P3W2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DnaJ homolog subfamily C member 24 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P3W2-1", "PR:Q6P3W2-1", "ENSEMBL:ENSP00000417548", "ENSEMBL:ENSP00000417548.1"], "information_content": 100.0}
{"id": "NCBIGene:51068", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NMD3", "equivalent_identifiers": ["NCBIGene:51068", "ENSEMBL:ENSG00000169251", "HGNC:24250", "OMIM:611021", "UMLS:C1538068", "UniProtKB:C9JA08", "ENSEMBL:ENSP00000417559", "ENSEMBL:ENSP00000417559.1", "UMLS:C1259596", "MESH:C475570", "UniProtKB:Q96D46", "PR:Q96D46", "ENSEMBL:ENSP00000307525", "ENSEMBL:ENSP00000307525.2", "ENSEMBL:ENSP00000419004", "ENSEMBL:ENSP00000419004.1"]}
{"id": "NCBIGene:57620", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STIM2", "equivalent_identifiers": ["NCBIGene:57620", "ENSEMBL:ENSG00000109689", "HGNC:19205", "OMIM:610841", "UMLS:C1426088", "UniProtKB:B3KUB5", "UMLS:C1432228", "MESH:C513279", "UniProtKB:H0Y860", "ENSEMBL:ENSP00000417569", "ENSEMBL:ENSP00000417569.2", "UniProtKB:Q9P246", "PR:Q9P246"]}
{"id": "UniProtKB:Q2TAA2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "isoamyl acetate-hydrolyzing esterase 1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2TAA2-1", "PR:Q2TAA2-1", "ENSEMBL:ENSP00000417580", "ENSEMBL:ENSP00000417580.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6PEV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM199X isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6PEV8-1", "PR:Q6PEV8-1", "ENSEMBL:ENSP00000417581", "ENSEMBL:ENSP00000417581.1"], "information_content": 100.0}
{"id": "MONDO:0006309", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucinous gastric adenocarcinoma", "equivalent_identifiers": ["MONDO:0006309", "DOID:3716", "EFO:1000386", "UMLS:C1334809", "MEDDRA:10073376", "NCIT:C5248", "medgen:235338"], "information_content": 100.0}
{"id": "NCBIGene:81849", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ST6GALNAC5", "equivalent_identifiers": ["NCBIGene:81849", "ENSEMBL:ENSG00000117069", "HGNC:19342", "OMIM:610134", "UMLS:C1539871", "UniProtKB:B4DV27", "UniProtKB:Q9BVH7", "PR:Q9BVH7", "ENSEMBL:ENSP00000417583", "ENSEMBL:ENSP00000417583.1", "UMLS:C0910044", "UMLS:C2827576", "MESH:C400189"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/LRR-repeat protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKC9-1", "PR:Q9UKC9-1", "ENSEMBL:ENSP00000417601", "ENSEMBL:ENSP00000417601.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HD33-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein uL29m isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HD33-1", "PR:Q9HD33-1", "ENSEMBL:ENSP00000417602", "ENSEMBL:ENSP00000417602.1"], "information_content": 100.0}
{"id": "NCBIGene:51715", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB23", "equivalent_identifiers": ["NCBIGene:51715", "ENSEMBL:ENSG00000112210", "HGNC:14263", "OMIM:606144", "UMLS:C1422524", "UniProtKB:Q9ULC3", "PR:Q9ULC3", "ENSEMBL:ENSP00000320413", "ENSEMBL:ENSP00000320413.3", "ENSEMBL:ENSP00000417610", "ENSEMBL:ENSP00000417610.1", "UMLS:C1450213", "MESH:C486614"], "information_content": 95.4}
{"id": "NCBIGene:55365", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM176A", "equivalent_identifiers": ["NCBIGene:55365", "ENSEMBL:ENSG00000002933", "HGNC:24930", "OMIM:610334", "UMLS:C1823440", "UniProtKB:A0A090N8H6", "UMLS:C4308889", "MESH:C000613738", "UniProtKB:Q96HP8", "PR:Q96HP8", "ENSEMBL:ENSP00000004103", "ENSEMBL:ENSP00000004103.3", "ENSEMBL:ENSP00000417626", "ENSEMBL:ENSP00000417626.1"], "information_content": 92.8}
{"id": "UniProtKB:A6NFN9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ANKUB1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:A6NFN9-2", "PR:A6NFN9-2", "ENSEMBL:ENSP00000417635", "ENSEMBL:ENSP00000417635.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJU6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "drebrin-like protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJU6-3", "PR:Q9UJU6-3", "ENSEMBL:ENSP00000417653", "ENSEMBL:ENSP00000417653.1"], "information_content": 100.0}
{"id": "NCBIGene:55032", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC35A5", "equivalent_identifiers": ["NCBIGene:55032", "ENSEMBL:ENSG00000138459", "HGNC:20792", "OMIM:620298", "UMLS:C1427127", "UniProtKB:H7BXF8", "ENSEMBL:ENSP00000261034", "ENSEMBL:ENSP00000261034.2", "UniProtKB:Q9BS91", "PR:Q9BS91", "ENSEMBL:ENSP00000417654", "ENSEMBL:ENSP00000417654.1", "UMLS:C5197057", "MESH:C000630831"], "information_content": 100.0}
{"id": "UniProtKB:Q5SGD2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase 1L isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SGD2-1", "PR:Q5SGD2-1", "ENSEMBL:ENSP00000417659", "ENSEMBL:ENSP00000417659.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14493-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone RNA hairpin-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14493-1", "PR:Q14493-1", "ENSEMBL:ENSP00000417686", "ENSEMBL:ENSP00000417686.1"], "information_content": 100.0}
{"id": "NCBIGene:151871", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPPA2", "equivalent_identifiers": ["NCBIGene:151871", "ENSEMBL:ENSG00000163530", "HGNC:19197", "OMIM:614445", "UMLS:C1426083", "UniProtKB:Q7Z7J5", "PR:Q7Z7J5", "ENSEMBL:ENSP00000417710", "ENSEMBL:ENSP00000417710.1", "UMLS:C1608599", "MESH:C502836"], "information_content": 100.0}
{"id": "NCBIGene:259308", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA31F1", "equivalent_identifiers": ["NCBIGene:259308", "ENSEMBL:ENSG00000205108", "HGNC:41911", "UMLS:C3470274", "UniProtKB:B4DY95", "UniProtKB:Q6ZU69", "PR:Q6ZU69", "ENSEMBL:ENSP00000417711", "ENSEMBL:ENSP00000417711.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5TDH0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein DDI1 homolog 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TDH0-1", "PR:Q5TDH0-1", "ENSEMBL:ENSP00000417748", "ENSEMBL:ENSP00000417748.1"], "information_content": 100.0}
{"id": "UniProtKB:P41227-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-alpha-acetyltransferase 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P41227-1", "PR:P41227-1", "ENSEMBL:ENSP00000417763", "ENSEMBL:ENSP00000417763.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9H553-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-1,3/1,6-mannosyltransferase ALG2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H553-1", "PR:Q9H553-1", "ENSEMBL:ENSP00000417764", "ENSEMBL:ENSP00000417764.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NA54-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IQ motif and ubiquitin-like domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NA54-1", "PR:Q8NA54-1", "ENSEMBL:ENSP00000324882", "ENSEMBL:ENSP00000324882.6", "ENSEMBL:ENSP00000417769", "ENSEMBL:ENSP00000417769.1"], "information_content": 100.0}
{"id": "MONDO:0014153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cone-rod dystrophy 18", "equivalent_identifiers": ["MONDO:0014153", "DOID:0111024", "OMIM:615374", "UMLS:C3809299", "medgen:815629"], "information_content": 100.0}
{"id": "NCBIGene:100130771", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EFCAB10", "equivalent_identifiers": ["NCBIGene:100130771", "ENSEMBL:ENSG00000185055", "HGNC:34531", "UMLS:C2681451", "UniProtKB:A6NFE3", "PR:A6NFE3", "ENSEMBL:ENSP00000418678", "ENSEMBL:ENSP00000418678.1", "UniProtKB:C9J654", "ENSEMBL:ENSP00000418425", "ENSEMBL:ENSP00000418425.1", "UniProtKB:J3KR48", "ENSEMBL:ENSP00000417484", "ENSEMBL:ENSP00000417484.1", "UniProtKB:J3KR52", "ENSEMBL:ENSP00000417841", "ENSEMBL:ENSP00000417841.1"]}
{"id": "NCBIGene:8125", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANP32A", "equivalent_identifiers": ["NCBIGene:8125", "ENSEMBL:ENSG00000140350", "HGNC:13233", "OMIM:600832", "UMLS:C1421894", "UniProtKB:A0A384P5U2", "UniProtKB:P39687", "PR:P39687", "ENSEMBL:ENSP00000417864", "ENSEMBL:ENSP00000417864.2", "UMLS:C1447285", "MESH:C087425"], "information_content": 92.8}
{"id": "UniProtKB:P09466-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycodelin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P09466-1", "PR:P09466-1", "ENSEMBL:ENSP00000277508", "ENSEMBL:ENSP00000277508.5", "ENSEMBL:ENSP00000360831", "ENSEMBL:ENSP00000360831.1", "ENSEMBL:ENSP00000417898", "ENSEMBL:ENSP00000417898.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQX3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gephyrin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQX3-2", "PR:Q9NQX3-2", "ENSEMBL:ENSP00000417901", "ENSEMBL:ENSP00000417901.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXH4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and SOCS box protein 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXH4-1", "PR:Q8WXH4-1", "ENSEMBL:ENSP00000417914", "ENSEMBL:ENSP00000417914.1"], "information_content": 100.0}
{"id": "NCBIGene:388951", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPYL6", "equivalent_identifiers": ["NCBIGene:388951", "ENSEMBL:ENSG00000178021", "HGNC:14521", "UMLS:C1540101", "UniProtKB:A0A140VJY4", "UMLS:C4743153", "MESH:C000627904", "UniProtKB:Q8N831", "PR:Q8N831", "ENSEMBL:ENSP00000417919", "ENSEMBL:ENSP00000417919.2"], "information_content": 95.4}
{"id": "UniProtKB:Q502W6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "von Willebrand factor A domain-containing protein 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q502W6-1", "PR:Q502W6-1", "ENSEMBL:ENSP00000417955", "ENSEMBL:ENSP00000417955.1"], "information_content": 100.0}
{"id": "MONDO:0013526", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive myoclonic epilepsy type 6", "equivalent_identifiers": ["MONDO:0013526", "DOID:0111449", "OMIM:614018", "orphanet:280620", "UMLS:C5190805", "SNOMEDCT:783062001", "medgen:1681379", "icd11.foundation:878291417"], "information_content": 100.0}
{"id": "UniProtKB:Q9UFE4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 39 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UFE4-1", "PR:Q9UFE4-1", "ENSEMBL:ENSP00000417960", "ENSEMBL:ENSP00000417960.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14738-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform isoform hDelta-1 (human)", "equivalent_identifiers": ["UniProtKB:Q14738-1", "PR:Q14738-1", "ENSEMBL:ENSP00000417963", "ENSEMBL:ENSP00000417963.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H9B1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase EHMT1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9B1-1", "PR:Q9H9B1-1", "ENSEMBL:ENSP00000417980", "ENSEMBL:ENSP00000417980.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZS86-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycerol kinase 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZS86-1", "PR:Q6ZS86-1", "ENSEMBL:ENSP00000418001", "ENSEMBL:ENSP00000418001.1"], "information_content": 100.0}
{"id": "UniProtKB:P82650-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ribosomal subunit protein mS22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P82650-1", "PR:P82650-1", "ENSEMBL:ENSP00000418008", "ENSEMBL:ENSP00000418008.1", "ENSEMBL:ENSP00000505414", "ENSEMBL:ENSP00000505414.1", "ENSEMBL:ENSP00000510396", "ENSEMBL:ENSP00000510396.1"], "information_content": 100.0}
{"id": "NCBIGene:5919", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RARRES2", "equivalent_identifiers": ["NCBIGene:5919", "ENSEMBL:ENSG00000106538", "HGNC:9868", "OMIM:601973", "UMLS:C1419274", "UniProtKB:A0A090N7U9", "UMLS:C1312957", "MESH:C478630", "UniProtKB:Q99969", "PR:Q99969", "ENSEMBL:ENSP00000223271", "ENSEMBL:ENSP00000223271.3", "ENSEMBL:ENSP00000418009", "ENSEMBL:ENSP00000418009.1", "ENSEMBL:ENSP00000418483", "ENSEMBL:ENSP00000418483.1"], "information_content": 82.1}
{"id": "MONDO:0003310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Monckeberg arteriosclerosis", "equivalent_identifiers": ["MONDO:0003310", "DOID:5161", "UMLS:C0887866", "MESH:D050380", "MEDDRA:10003212", "MEDDRA:10003213", "MEDDRA:10027812", "NCIT:C35770", "SNOMEDCT:69742007", "medgen:165784"], "information_content": 100.0}
{"id": "NCBIGene:338376", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFNE", "equivalent_identifiers": ["NCBIGene:338376", "ENSEMBL:ENSG00000184995", "HGNC:18163", "OMIM:615223", "UMLS:C2681609", "UniProtKB:Q86WN2", "PR:Q86WN2", "ENSEMBL:ENSP00000418018", "ENSEMBL:ENSP00000418018.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13568-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon regulatory factor 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13568-2", "PR:Q13568-2", "ENSEMBL:ENSP00000349770", "ENSEMBL:ENSP00000349770.5", "ENSEMBL:ENSP00000418037", "ENSEMBL:ENSP00000418037.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQS3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nectin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQS3-1", "PR:Q9NQS3-1", "ENSEMBL:ENSP00000418070", "ENSEMBL:ENSP00000418070.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY47-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent calcium channel subunit alpha-2/delta-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY47-1", "PR:Q9NY47-1", "ENSEMBL:ENSP00000418081", "ENSEMBL:ENSP00000418081.1"], "information_content": 100.0}
{"id": "NCBIGene:6168", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL37A", "equivalent_identifiers": ["NCBIGene:6168", "ENSEMBL:ENSG00000197756", "HGNC:10348", "OMIM:613314", "UMLS:C1419671", "UniProtKB:P61513", "PR:P61513", "ENSEMBL:ENSP00000418082", "ENSEMBL:ENSP00000418082.1", "UMLS:C1435712", "MESH:C484101"], "information_content": 89.4}
{"id": "NCBIGene:57415", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEP15", "equivalent_identifiers": ["NCBIGene:57415", "ENSEMBL:ENSG00000114405", "HGNC:25024", "UMLS:C1540225", "UniProtKB:Q9HBI5", "PR:Q9HBI5", "ENSEMBL:ENSP00000232519", "ENSEMBL:ENSP00000232519.5", "ENSEMBL:ENSP00000418086", "ENSEMBL:ENSP00000418086.1", "ENSEMBL:ENSP00000419977", "ENSEMBL:ENSP00000419977.1", "ENSEMBL:ENSP00000438275", "ENSEMBL:ENSP00000438275.1"], "information_content": 100.0}
{"id": "MONDO:0013917", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nephronophthisis 15", "equivalent_identifiers": ["MONDO:0013917", "DOID:0111123", "OMIM:614845", "UMLS:C3541853", "medgen:762112"], "information_content": 100.0}
{"id": "NCBIGene:50651", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC45A1", "equivalent_identifiers": ["NCBIGene:50651", "ENSEMBL:ENSG00000162426", "HGNC:17939", "OMIM:605763", "UMLS:C1822763", "UniProtKB:Q9Y2W3", "PR:Q9Y2W3", "ENSEMBL:ENSP00000289877", "ENSEMBL:ENSP00000289877.8", "ENSEMBL:ENSP00000418096", "ENSEMBL:ENSP00000418096.3", "UMLS:C4508426", "MESH:C000621494"], "information_content": 100.0}
{"id": "UniProtKB:P23470-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P23470-1", "PR:P23470-1", "ENSEMBL:ENSP00000418112", "ENSEMBL:ENSP00000418112.1"], "information_content": 100.0}
{"id": "NCBIGene:6705", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPRR2F", "equivalent_identifiers": ["NCBIGene:6705", "ENSEMBL:ENSG00000244094", "HGNC:11266", "OMIM:617589", "UMLS:C1420379", "UniProtKB:Q96RM1", "PR:Q96RM1", "ENSEMBL:ENSP00000418193", "ENSEMBL:ENSP00000418193.1", "UMLS:C1999900", "MESH:C524775"], "information_content": 100.0}
{"id": "UniProtKB:Q460N5-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein mono-ADP-ribosyltransferase PARP14 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q460N5-6", "PR:Q460N5-6", "ENSEMBL:ENSP00000418194", "ENSEMBL:ENSP00000418194.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6DKI1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal protein uL30-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6DKI1-1", "PR:Q6DKI1-1", "ENSEMBL:ENSP00000346063", "ENSEMBL:ENSP00000346063.4", "ENSEMBL:ENSP00000418221", "ENSEMBL:ENSP00000418221.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2I1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nischarin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2I1-1", "PR:Q9Y2I1-1", "ENSEMBL:ENSP00000339958", "ENSEMBL:ENSP00000339958.4", "ENSEMBL:ENSP00000418232", "ENSEMBL:ENSP00000418232.1"], "information_content": 100.0}
{"id": "NCBIGene:346171", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFP57", "equivalent_identifiers": ["NCBIGene:346171", "ENSEMBL:ENSG00000204644", "HGNC:18791", "OMIM:612192", "UMLS:C1823951", "UniProtKB:A0A1U9X8V5", "UMLS:C2603869", "MESH:C531063", "UniProtKB:A0A7I2S1M6", "ENSEMBL:ENSP00000418259", "ENSEMBL:ENSP00000418259.2", "UniProtKB:B7ZW61", "UniProtKB:Q9NU63", "PR:Q9NU63"]}
{"id": "UniProtKB:Q7L590-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein MCM10 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L590-1", "PR:Q7L590-1", "ENSEMBL:ENSP00000418268", "ENSEMBL:ENSP00000418268.1"], "information_content": 100.0}
{"id": "NCBIGene:9391", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIAO1", "equivalent_identifiers": ["NCBIGene:9391", "ENSEMBL:ENSG00000144021", "HGNC:14280", "OMIM:604333", "UMLS:C1538079", "UniProtKB:O76071", "PR:O76071", "ENSEMBL:ENSP00000418287", "ENSEMBL:ENSP00000418287.1", "UMLS:C0674581", "MESH:C112111"], "information_content": 85.5}
{"id": "NCBIGene:138474", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAF1L", "equivalent_identifiers": ["NCBIGene:138474", "ENSEMBL:ENSG00000122728", "HGNC:18056", "OMIM:607798", "UMLS:C1425269", "UniProtKB:Q8IZX4", "PR:Q8IZX4", "ENSEMBL:ENSP00000418379", "ENSEMBL:ENSP00000418379.1", "UMLS:C1175527", "UMLS:C4724736", "MESH:C472868"], "information_content": 100.0}
{"id": "NCBIGene:4696", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFA3", "equivalent_identifiers": ["NCBIGene:4696", "ENSEMBL:ENSG00000170906", "HGNC:7686", "OMIM:603832", "UMLS:C1417623", "UniProtKB:O95167", "PR:O95167", "ENSEMBL:ENSP00000398290", "ENSEMBL:ENSP00000398290.1", "ENSEMBL:ENSP00000418438", "ENSEMBL:ENSP00000418438.1", "ENSEMBL:ENSP00000477783", "ENSEMBL:ENSP00000477783.1", "ENSEMBL:ENSP00000477919", "ENSEMBL:ENSP00000477919.1", "ENSEMBL:ENSP00000478119", "ENSEMBL:ENSP00000478119.1", "ENSEMBL:ENSP00000480437", "ENSEMBL:ENSP00000480437.1", "ENSEMBL:ENSP00000481545", "ENSEMBL:ENSP00000481545.1", "ENSEMBL:ENSP00000482015", "ENSEMBL:ENSP00000482015.1", "ENSEMBL:ENSP00000483002", "ENSEMBL:ENSP00000483002.1", "ENSEMBL:ENSP00000483683", "ENSEMBL:ENSP00000483683.1", "ENSEMBL:ENSP00000483934", "ENSEMBL:ENSP00000483934.1", "ENSEMBL:ENSP00000484436", "ENSEMBL:ENSP00000484436.1", "UMLS:C1721718", "MESH:C510270", "UniProtKB:Q6FGG4"], "information_content": 90.9}
{"id": "UniProtKB:P67775-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P67775-1", "PR:P67775-1", "ENSEMBL:ENSP00000418447", "ENSEMBL:ENSP00000418447.1"], "information_content": 100.0}
{"id": "NCBIGene:4311", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MME", "equivalent_identifiers": ["NCBIGene:4311", "ENSEMBL:ENSG00000196549", "HGNC:7154", "OMIM:120520", "UMLS:C1366499", "UniProtKB:P08473", "PR:P08473", "ENSEMBL:ENSP00000353679", "ENSEMBL:ENSP00000353679.2", "ENSEMBL:ENSP00000417079", "ENSEMBL:ENSP00000417079.1", "ENSEMBL:ENSP00000418525", "ENSEMBL:ENSP00000418525.1", "ENSEMBL:ENSP00000418791", "ENSEMBL:ENSP00000418791.2", "ENSEMBL:ENSP00000419653", "ENSEMBL:ENSP00000419653.1", "ENSEMBL:ENSP00000420389", "ENSEMBL:ENSP00000420389.1", "ENSEMBL:ENSP00000420542", "ENSEMBL:ENSP00000420542.2", "ENSEMBL:ENSP00000502021", "ENSEMBL:ENSP00000502021.2", "ENSEMBL:ENSP00000505211", "ENSEMBL:ENSP00000505211.1", "ENSEMBL:ENSP00000505690", "ENSEMBL:ENSP00000505690.1", "UMLS:C3887624", "UniProtKB:Q3KQS6", "ENSEMBL:ENSP00000372450", "ENSEMBL:ENSP00000372450.3"], "information_content": 82.6}
{"id": "UniProtKB:Q9UNZ2-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NSFL1 cofactor p47 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNZ2-5", "PR:Q9UNZ2-5", "ENSEMBL:ENSP00000418529", "ENSEMBL:ENSP00000418529.1"], "information_content": 100.0}
{"id": "UniProtKB:P35503-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 1A3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35503-1", "PR:P35503-1", "ENSEMBL:ENSP00000418532", "ENSEMBL:ENSP00000418532.1"], "information_content": 100.0}
{"id": "NCBIGene:6844", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VAMP2", "equivalent_identifiers": ["NCBIGene:6844", "ENSEMBL:ENSG00000220205", "HGNC:12643", "OMIM:185881", "UMLS:C1421419", "UniProtKB:F8WCA0", "ENSEMBL:ENSP00000418572", "ENSEMBL:ENSP00000418572.1", "UMLS:C1564879", "MESH:C494807", "UniProtKB:P63027", "PR:P63027", "ENSEMBL:ENSP00000314214", "ENSEMBL:ENSP00000314214.6"]}
{"id": "NCBIGene:2272", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FHIT", "equivalent_identifiers": ["NCBIGene:2272", "ENSEMBL:ENSG00000189283", "HGNC:3701", "OMIM:601153", "UMLS:C0919457", "UniProtKB:P49789", "PR:P49789", "ENSEMBL:ENSP00000417480", "ENSEMBL:ENSP00000417480.1", "ENSEMBL:ENSP00000417557", "ENSEMBL:ENSP00000417557.1", "ENSEMBL:ENSP00000418582", "ENSEMBL:ENSP00000418582.1", "UMLS:C1173495"], "information_content": 84.2}
{"id": "NCBIGene:84626", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRABD3", "equivalent_identifiers": ["NCBIGene:84626", "ENSEMBL:ENSG00000133619", "HGNC:22228", "UMLS:C1825737", "UniProtKB:A0A0C4DH65", "ENSEMBL:ENSP00000418647", "ENSEMBL:ENSP00000418647.3", "UniProtKB:A5PL33", "PR:A5PL33"]}
{"id": "UniProtKB:Q6ZU65-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubinuclein-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZU65-1", "PR:Q6ZU65-1", "ENSEMBL:ENSP00000418648", "ENSEMBL:ENSP00000418648.2"], "information_content": 100.0}
{"id": "NCBIGene:138428", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTRH1", "equivalent_identifiers": ["NCBIGene:138428", "ENSEMBL:ENSG00000187024", "HGNC:27039", "OMIM:621047", "UMLS:C1826737", "UniProtKB:C9J7Z1", "ENSEMBL:ENSP00000418219", "ENSEMBL:ENSP00000418219.1", "UniProtKB:Q86Y79", "PR:Q86Y79", "ENSEMBL:ENSP00000418661", "ENSEMBL:ENSP00000418661.1", "ENSEMBL:ENSP00000439469", "ENSEMBL:ENSP00000439469.1"], "information_content": 100.0}
{"id": "MONDO:0013763", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 15", "equivalent_identifiers": ["MONDO:0013763", "DOID:0110984", "OMIM:614464", "UMLS:C3280897", "medgen:482527"], "information_content": 100.0}
{"id": "MONDO:0019293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "skin vascular disease", "equivalent_identifiers": ["MONDO:0019293", "DOID:9540", "orphanet:79379", "UMLS:C0162819", "UMLS:C1842892", "MESH:D017445", "MEDDRA:10047043", "MEDDRA:10047109", "MEDDRA:10062171", "NCIT:C35254", "SNOMEDCT:11263005", "medgen:102473", "HP:0011276"], "information_content": 69.7}
{"id": "NCBIGene:347273", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAVIN4", "equivalent_identifiers": ["NCBIGene:347273", "ENSEMBL:ENSG00000170681", "HGNC:33742", "OMIM:617714", "UMLS:C2681849", "UniProtKB:Q5BKX8", "PR:Q5BKX8", "ENSEMBL:ENSP00000418668", "ENSEMBL:ENSP00000418668.1", "UMLS:C3490221", "MESH:C570060"], "information_content": 100.0}
{"id": "NCBIGene:22928", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEPHS2", "equivalent_identifiers": ["NCBIGene:22928", "ENSEMBL:ENSG00000179918", "HGNC:19686", "OMIM:606218", "UMLS:C1426333", "UniProtKB:Q99611", "PR:Q99611", "ENSEMBL:ENSP00000418669", "ENSEMBL:ENSP00000418669.3", "UMLS:C3883733", "MESH:C000591223"], "information_content": 95.4}
{"id": "NCBIGene:10069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RWDD2B", "equivalent_identifiers": ["NCBIGene:10069", "ENSEMBL:ENSG00000156253", "HGNC:1302", "OMIM:617843", "UMLS:C1412982", "UniProtKB:P57060", "PR:P57060", "ENSEMBL:ENSP00000418693", "ENSEMBL:ENSP00000418693.1", "ENSEMBL:ENSP00000516999", "ENSEMBL:ENSP00000516999.1"], "information_content": 92.8}
{"id": "UniProtKB:Q15008-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome non-ATPase regulatory subunit 6 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q15008-4", "PR:Q15008-4", "ENSEMBL:ENSP00000418695", "ENSEMBL:ENSP00000418695.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5VVJ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deubiquitinase MYSM1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VVJ2-1", "PR:Q5VVJ2-1", "ENSEMBL:ENSP00000418734", "ENSEMBL:ENSP00000418734.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2N4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "a disintegrin and metalloproteinase with thrombospondin motifs 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2N4-3", "PR:Q9P2N4-3", "ENSEMBL:ENSP00000418735", "ENSEMBL:ENSP00000418735.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6T0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epithelial splicing regulatory protein 2 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6T0-2", "PR:Q9H6T0-2", "ENSEMBL:ENSP00000418748", "ENSEMBL:ENSP00000418748.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96Q07-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein 9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q07-1", "PR:Q96Q07-1", "ENSEMBL:ENSP00000418751", "ENSEMBL:ENSP00000418751.1", "ENSEMBL:ENSP00000497066", "ENSEMBL:ENSP00000497066.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13308-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive tyrosine-protein kinase 7 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q13308-6", "PR:Q13308-6", "ENSEMBL:ENSP00000418754", "ENSEMBL:ENSP00000418754.1"], "information_content": 100.0}
{"id": "NCBIGene:79865", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TREML2", "equivalent_identifiers": ["NCBIGene:79865", "ENSEMBL:ENSG00000112195", "HGNC:21092", "OMIM:609715", "UMLS:C1540048", "UniProtKB:Q5T2D2", "PR:Q5T2D2", "ENSEMBL:ENSP00000418767", "ENSEMBL:ENSP00000418767.1", "UMLS:C1175928", "MESH:C473367"], "information_content": 84.2}
{"id": "NCBIGene:51300", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMMDC1", "equivalent_identifiers": ["NCBIGene:51300", "ENSEMBL:ENSG00000113845", "HGNC:1321", "OMIM:615534", "UMLS:C3469994", "UniProtKB:C9JU35", "ENSEMBL:ENSP00000419510", "ENSEMBL:ENSP00000419510.1", "UMLS:C0964567", "MESH:C421265", "UniProtKB:Q9NPL8", "PR:Q9NPL8", "ENSEMBL:ENSP00000418803", "ENSEMBL:ENSP00000418803.1"], "information_content": 100.0}
{"id": "NCBIGene:58515", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SELENOK", "equivalent_identifiers": ["NCBIGene:58515", "ENSEMBL:ENSG00000113811", "HGNC:30394", "OMIM:607916", "UMLS:C1842833", "UniProtKB:Q9Y6D0", "PR:Q9Y6D0", "ENSEMBL:ENSP00000418813", "ENSEMBL:ENSP00000418813.1"], "information_content": 92.8}
{"id": "UniProtKB:Q9C0B1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-ketoglutarate-dependent dioxygenase FTO isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0B1-1", "PR:Q9C0B1-1", "ENSEMBL:ENSP00000418823", "ENSEMBL:ENSP00000418823.1"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000418875", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000418875", "equivalent_identifiers": ["ENSEMBL:ENSP00000418875"]}
{"id": "NCBIGene:51714", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SELENOT", "equivalent_identifiers": ["NCBIGene:51714", "ENSEMBL:ENSG00000198843", "HGNC:18136", "OMIM:607912", "UMLS:C1842835", "UniProtKB:P62341", "PR:P62341", "ENSEMBL:ENSP00000418910", "ENSEMBL:ENSP00000418910.1", "UMLS:C0892334", "MESH:C495235"], "information_content": 95.4}
{"id": "UniProtKB:P42771-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase inhibitor 2A isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P42771-4", "PR:P42771-4", "ENSEMBL:ENSP00000418915", "ENSEMBL:ENSP00000418915.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86TG7-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retrotransposon-derived protein PEG10 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q86TG7-5", "PR:Q86TG7-5", "ENSEMBL:ENSP00000418944", "ENSEMBL:ENSP00000418944.2"], "information_content": 100.0}
{"id": "UniProtKB:P38398-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "breast cancer type 1 susceptibility protein isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:P38398-7", "PR:P38398-7", "ENSEMBL:ENSP00000418960", "ENSEMBL:ENSP00000418960.2"], "information_content": 100.0}
{"id": "MONDO:0005183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian cystadenoma", "equivalent_identifiers": ["MONDO:0005183", "DOID:3269", "EFO:0002511", "UMLS:C0346169", "MEDDRA:10058334", "NCIT:C4060", "SNOMEDCT:198297004", "medgen:138041", "HP:6000672"], "information_content": 88.2}
{"id": "NCBIGene:389384", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BNIP5", "equivalent_identifiers": ["NCBIGene:389384", "ENSEMBL:ENSG00000189325", "HGNC:33769", "UMLS:C2240276", "UniProtKB:P0C671", "PR:P0C671", "ENSEMBL:ENSP00000418983", "ENSEMBL:ENSP00000418983.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TBG9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptoporin isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBG9-2", "PR:Q8TBG9-2", "ENSEMBL:ENSP00000418994", "ENSEMBL:ENSP00000418994.1"], "information_content": 100.0}
{"id": "NCBIGene:4045", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LSAMP", "equivalent_identifiers": ["NCBIGene:4045", "ENSEMBL:ENSG00000185565", "HGNC:6705", "OMIM:603241", "UMLS:C1416924", "UniProtKB:B7Z661", "UMLS:C1738262", "UniProtKB:Q13449", "PR:Q13449", "ENSEMBL:ENSP00000419000", "ENSEMBL:ENSP00000419000.1"], "information_content": 95.4}
{"id": "NCBIGene:27042", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UTP25", "equivalent_identifiers": ["NCBIGene:27042", "ENSEMBL:ENSG00000117597", "HGNC:28440", "OMIM:619663", "UMLS:C1823727", "UniProtKB:Q68CQ4", "PR:Q68CQ4", "ENSEMBL:ENSP00000419005", "ENSEMBL:ENSP00000419005.1", "UMLS:C4549034", "MESH:C000622696"], "information_content": 95.4}
{"id": "MONDO:0007239", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epidermolytic ichthyosis", "equivalent_identifiers": ["MONDO:0007239", "DOID:4603", "OMIM.PS:113800", "UMLS:C0079153", "UMLS:C0343110", "MESH:D017488", "MEDDRA:10006562", "MEDDRA:10014990", "MEDDRA:10078292", "SNOMEDCT:239071005", "SNOMEDCT:254167000", "medgen:38179", "icd11.foundation:1183730789", "ICD10:Q80.3", "HP:0007475"], "information_content": 84.8}
{"id": "UniProtKB:P05166-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "propionyl-CoA carboxylase beta chain, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P05166-2", "PR:P05166-2", "ENSEMBL:ENSP00000419027", "ENSEMBL:ENSP00000419027.1"], "information_content": 100.0}
{"id": "NCBIGene:673", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BRAF", "equivalent_identifiers": ["NCBIGene:673", "ENSEMBL:ENSG00000157764", "HGNC:1097", "OMIM:164757", "UMLS:C0812241", "UniProtKB:A0A2R8Y8E0", "ENSEMBL:ENSP00000496776", "ENSEMBL:ENSP00000496776.1", "UniProtKB:A0A2U3TZI2", "ENSEMBL:ENSP00000288602", "ENSEMBL:ENSP00000288602.7", "UniProtKB:H7C560", "ENSEMBL:ENSP00000419060", "ENSEMBL:ENSP00000419060.2", "UniProtKB:P15056", "PR:P15056", "ENSEMBL:ENSP00000493543", "ENSEMBL:ENSP00000493543.1", "UMLS:C1259929", "MESH:C482119"]}
{"id": "UniProtKB:Q96GE6-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calmodulin-like protein 4 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q96GE6-6", "PR:Q96GE6-6", "ENSEMBL:ENSP00000419081", "ENSEMBL:ENSP00000419081.2"], "information_content": 100.0}
{"id": "UniProtKB:Q495A1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell immunoreceptor with Ig and ITIM domains isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q495A1-1", "PR:Q495A1-1", "ENSEMBL:ENSP00000373167", "ENSEMBL:ENSP00000373167.3", "ENSEMBL:ENSP00000419085", "ENSEMBL:ENSP00000419085.1"], "information_content": 100.0}
{"id": "NCBIGene:4708", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFB2", "equivalent_identifiers": ["NCBIGene:4708", "ENSEMBL:ENSG00000090266", "HGNC:7697", "OMIM:603838", "UMLS:C1417634", "UniProtKB:A4D1T5", "UniProtKB:O95178", "PR:O95178", "ENSEMBL:ENSP00000247866", "ENSEMBL:ENSP00000247866.4", "ENSEMBL:ENSP00000419087", "ENSEMBL:ENSP00000419087.1", "ENSEMBL:ENSP00000419357", "ENSEMBL:ENSP00000419357.1"], "information_content": 92.8}
{"id": "NCBIGene:26355", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM162A", "equivalent_identifiers": ["NCBIGene:26355", "ENSEMBL:ENSG00000114023", "HGNC:17865", "OMIM:608017", "UMLS:C1824125", "UniProtKB:Q96A26", "PR:Q96A26", "ENSEMBL:ENSP00000419088", "ENSEMBL:ENSP00000419088.1", "UMLS:C1452179", "MESH:C486647", "UniProtKB:Q9H2P1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent calcium channel subunit alpha-2/delta-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZS8-1", "PR:Q8IZS8-1", "ENSEMBL:ENSP00000419101", "ENSEMBL:ENSP00000419101.1"], "information_content": 100.0}
{"id": "UniProtKB:O95990-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin-associated protein FAM107A isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O95990-4", "PR:O95990-4", "ENSEMBL:ENSP00000419124", "ENSEMBL:ENSP00000419124.1"], "information_content": 100.0}
{"id": "NCBIGene:80007", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C10orf88", "equivalent_identifiers": ["NCBIGene:80007", "ENSEMBL:ENSG00000119965", "HGNC:25822", "OMIM:620661", "UMLS:C1428524", "UniProtKB:Q9H8K7", "PR:Q9H8K7", "ENSEMBL:ENSP00000419126", "ENSEMBL:ENSP00000419126.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HC78-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and BTB domain-containing protein 20 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HC78-1", "PR:Q9HC78-1", "ENSEMBL:ENSP00000419153", "ENSEMBL:ENSP00000419153.1", "ENSEMBL:ENSP00000501561", "ENSEMBL:ENSP00000501561.1", "ENSEMBL:ENSP00000502480", "ENSEMBL:ENSP00000502480.1", "ENSEMBL:ENSP00000515869", "ENSEMBL:ENSP00000515869.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86TI4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 86 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q86TI4-4", "PR:Q86TI4-4", "ENSEMBL:ENSP00000419162", "ENSEMBL:ENSP00000419162.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9H7B4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase SMYD3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H7B4-1", "PR:Q9H7B4-1", "ENSEMBL:ENSP00000419184", "ENSEMBL:ENSP00000419184.2"], "information_content": 100.0}
{"id": "NCBIGene:9480", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ONECUT2", "equivalent_identifiers": ["NCBIGene:9480", "ENSEMBL:ENSG00000119547", "HGNC:8139", "OMIM:604894", "UMLS:C1417952", "UniProtKB:O95948", "PR:O95948", "ENSEMBL:ENSP00000419185", "ENSEMBL:ENSP00000419185.2", "UMLS:C1308914", "MESH:C117354"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCB2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CaM kinase-like vesicle-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCB2-1", "PR:Q8NCB2-1", "ENSEMBL:ENSP00000419195", "ENSEMBL:ENSP00000419195.1"], "information_content": 100.0}
{"id": "UniProtKB:Q16595-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "frataxin, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16595-1", "PR:Q16595-1", "ENSEMBL:ENSP00000419243", "ENSEMBL:ENSP00000419243.2"], "information_content": 100.0}
{"id": "NCBIGene:5294", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIK3CG", "equivalent_identifiers": ["NCBIGene:5294", "ENSEMBL:ENSG00000105851", "HGNC:8978", "OMIM:601232", "UMLS:C1335214", "UniProtKB:A8K9G9", "UniProtKB:P48736", "PR:P48736", "ENSEMBL:ENSP00000352121", "ENSEMBL:ENSP00000352121.3", "ENSEMBL:ENSP00000392258", "ENSEMBL:ENSP00000392258.2", "ENSEMBL:ENSP00000419260", "ENSEMBL:ENSP00000419260.1", "UMLS:C2713509", "MESH:C546760"], "information_content": 90.9}
{"id": "UniProtKB:P49640-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox even-skipped homolog protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49640-1", "PR:P49640-1", "ENSEMBL:ENSP00000419266", "ENSEMBL:ENSP00000419266.3"], "information_content": 100.0}
{"id": "UniProtKB:A0AVF1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 56 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:A0AVF1-1", "PR:A0AVF1-1", "ENSEMBL:ENSP00000419279", "ENSEMBL:ENSP00000419279.1"], "information_content": 100.0}
{"id": "NCBIGene:5462", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POU5F1B", "equivalent_identifiers": ["NCBIGene:5462", "ENSEMBL:ENSG00000212993", "HGNC:9223", "OMIM:615739", "UMLS:C1418770", "UniProtKB:Q06416", "ENSEMBL:ENSP00000419298", "ENSEMBL:ENSP00000419298.2", "ENSEMBL:ENSP00000495779", "ENSEMBL:ENSP00000495779.1", "ENSEMBL:ENSP00000512769", "ENSEMBL:ENSP00000512769.1", "UMLS:C3812275", "UMLS:C3850232", "MESH:C588352"]}
{"id": "UniProtKB:P48995-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "short transient receptor potential channel 1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P48995-1", "PR:P48995-1", "ENSEMBL:ENSP00000419313", "ENSEMBL:ENSP00000419313.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96I99-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96I99-2", "PR:Q96I99-2", "ENSEMBL:ENSP00000419325", "ENSEMBL:ENSP00000419325.1"], "information_content": 100.0}
{"id": "UniProtKB:O95622-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenylate cyclase type 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95622-1", "PR:O95622-1", "ENSEMBL:ENSP00000419361", "ENSEMBL:ENSP00000419361.1"], "information_content": 100.0}
{"id": "NCBIGene:115416", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MALSU1", "equivalent_identifiers": ["NCBIGene:115416", "ENSEMBL:ENSG00000156928", "HGNC:21721", "OMIM:614624", "UMLS:C3470933", "UniProtKB:Q96EH3", "PR:Q96EH3", "ENSEMBL:ENSP00000419370", "ENSEMBL:ENSP00000419370.1", "UMLS:C3493309", "MESH:C573551"], "information_content": 100.0}
{"id": "NCBIGene:100131827", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF717", "equivalent_identifiers": ["NCBIGene:100131827", "ENSEMBL:ENSG00000227124", "HGNC:29448", "OMIM:618405", "UMLS:C1824019", "UniProtKB:C9J5W8", "ENSEMBL:ENSP00000417902", "ENSEMBL:ENSP00000417902.1", "UniProtKB:C9JVC3", "ENSEMBL:ENSP00000419377", "ENSEMBL:ENSP00000419377.1", "UniProtKB:Q9BY31", "PR:Q9BY31", "ENSEMBL:ENSP00000498738", "ENSEMBL:ENSP00000498738.1", "UMLS:C3850418", "MESH:C588067"]}
{"id": "NCBIGene:9022", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLIC3", "equivalent_identifiers": ["NCBIGene:9022", "ENSEMBL:ENSG00000169583", "HGNC:2064", "OMIM:606533", "UMLS:C1413486", "UniProtKB:O95833", "PR:O95833", "ENSEMBL:ENSP00000419378", "ENSEMBL:ENSP00000419378.1", "UMLS:C1431664", "MESH:C117019"], "information_content": 100.0}
{"id": "UniProtKB:Q49AH0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cerebral dopamine neurotrophic factor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q49AH0-1", "PR:Q49AH0-1", "ENSEMBL:ENSP00000419395", "ENSEMBL:ENSP00000419395.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N0V5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q8N0V5-1", "PR:Q8N0V5-1", "ENSEMBL:ENSP00000368917", "ENSEMBL:ENSP00000368917.3", "ENSEMBL:ENSP00000419411", "ENSEMBL:ENSP00000419411.2", "ENSEMBL:ENSP00000494927", "ENSEMBL:ENSP00000494927.1", "ENSEMBL:ENSP00000495911", "ENSEMBL:ENSP00000495911.1"], "information_content": 100.0}
{"id": "UniProtKB:P04920-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anion exchange protein 2 isoform A (human)", "equivalent_identifiers": ["UniProtKB:P04920-1", "PR:P04920-1", "ENSEMBL:ENSP00000405600", "ENSEMBL:ENSP00000405600.2", "ENSEMBL:ENSP00000419412", "ENSEMBL:ENSP00000419412.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUR7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "armadillo repeat-containing protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUR7-1", "PR:Q8IUR7-1", "ENSEMBL:ENSP00000419413", "ENSEMBL:ENSP00000419413.1"], "information_content": 100.0}
{"id": "MONDO:0033308", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 30", "equivalent_identifiers": ["MONDO:0033308", "DOID:0080275", "OMIM:617622", "UMLS:C4539937", "medgen:1613861"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6N3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UPF0690 protein C1orf52 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6N3-1", "PR:Q8N6N3-1", "ENSEMBL:ENSP00000419417", "ENSEMBL:ENSP00000419417.1"], "information_content": 100.0}
{"id": "UniProtKB:P62937-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidyl-prolyl cis-trans isomerase A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P62937-1", "PR:P62937-1", "ENSEMBL:ENSP00000419425", "ENSEMBL:ENSP00000419425.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13443-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13443-1", "PR:Q13443-1", "ENSEMBL:ENSP00000419446", "ENSEMBL:ENSP00000419446.2"], "information_content": 100.0}
{"id": "NCBIGene:10209", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF1", "equivalent_identifiers": ["NCBIGene:10209", "ENSEMBL:ENSG00000173812", "HGNC:3249", "OMIM:619901", "UMLS:C1414323", "UniProtKB:P41567", "PR:P41567", "ENSEMBL:ENSP00000419449", "ENSEMBL:ENSP00000419449.1", "UMLS:C0915260", "MESH:C410108", "UniProtKB:Q6IAV3"], "information_content": 92.8}
{"id": "UniProtKB:O60393-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein NOBOX isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60393-1", "PR:O60393-1", "ENSEMBL:ENSP00000419457", "ENSEMBL:ENSP00000419457.1"], "information_content": 100.0}
{"id": "NCBIGene:25937", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WWTR1", "equivalent_identifiers": ["NCBIGene:25937", "ENSEMBL:ENSG00000018408", "HGNC:24042", "OMIM:607392", "UMLS:C1538117", "UniProtKB:Q9GZV5", "PR:Q9GZV5", "ENSEMBL:ENSP00000353847", "ENSEMBL:ENSP00000353847.3", "ENSEMBL:ENSP00000419234", "ENSEMBL:ENSP00000419234.1", "ENSEMBL:ENSP00000419465", "ENSEMBL:ENSP00000419465.1", "UMLS:C2973330", "MESH:C551991"], "information_content": 86.3}
{"id": "UniProtKB:Q8N6F7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "germinal center-associated signaling and motility protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6F7-2", "PR:Q8N6F7-2", "ENSEMBL:ENSP00000419485", "ENSEMBL:ENSP00000419485.1", "ENSEMBL:ENSP00000493535", "ENSEMBL:ENSP00000493535.1"], "information_content": 100.0}
{"id": "NCBIGene:23429", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RYBP", "equivalent_identifiers": ["NCBIGene:23429", "ENSEMBL:ENSG00000163602", "HGNC:10480", "OMIM:607535", "UMLS:C1419776", "UniProtKB:Q8N488", "PR:Q8N488", "ENSEMBL:ENSP00000419494", "ENSEMBL:ENSP00000419494.4", "ENSEMBL:ENSP00000486012", "ENSEMBL:ENSP00000486012.2", "ENSEMBL:ENSP00000493835", "ENSEMBL:ENSP00000493835.1", "UMLS:C1432260", "MESH:C434957"], "information_content": 95.4}
{"id": "UniProtKB:Q8NAA5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 75A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NAA5-1", "PR:Q8NAA5-1", "ENSEMBL:ENSP00000419502", "ENSEMBL:ENSP00000419502.1"], "information_content": 100.0}
{"id": "NCBIGene:401494", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HACD4", "equivalent_identifiers": ["NCBIGene:401494", "ENSEMBL:ENSG00000188921", "HGNC:20920", "OMIM:615941", "UMLS:C1826736", "UniProtKB:Q5VWC8", "PR:Q5VWC8", "ENSEMBL:ENSP00000419503", "ENSEMBL:ENSP00000419503.1", "UMLS:C3849092", "MESH:C588244"], "information_content": 95.4}
{"id": "NCBIGene:55303", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GIMAP4", "equivalent_identifiers": ["NCBIGene:55303", "ENSEMBL:ENSG00000133574", "HGNC:21872", "OMIM:608087", "UMLS:C1539565", "UniProtKB:A0A090N7X0", "UMLS:C1435429", "MESH:C485688", "UniProtKB:G5E9W9", "ENSEMBL:ENSP00000419545", "ENSEMBL:ENSP00000419545.1", "UniProtKB:Q9NUV9", "PR:Q9NUV9", "ENSEMBL:ENSP00000255945", "ENSEMBL:ENSP00000255945.2"]}
{"id": "UniProtKB:Q96FX2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "diphthamide biosynthesis protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FX2-1", "PR:Q96FX2-1", "ENSEMBL:ENSP00000419599", "ENSEMBL:ENSP00000419599.1"], "information_content": 100.0}
{"id": "MONDO:0018473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperlipoproteinemia type 3", "equivalent_identifiers": ["MONDO:0018473", "DOID:3145", "OMIM:617347", "orphanet:412", "UMLS:C0020479", "UMLS:C1862556", "UMLS:C1862557", "UMLS:C1862558", "UMLS:C1862560", "UMLS:C1862561", "UMLS:C1862562", "UMLS:C2676098", "MESH:C566260", "MESH:C566261", "MESH:C566262", "MESH:C566263", "MESH:C566264", "MESH:C566265", "MESH:D006952", "MEDDRA:10038316", "MEDDRA:10045266", "MEDDRA:10054595", "MEDDRA:10054677", "MEDDRA:10058389", "MEDDRA:10058414", "MEDDRA:10060751", "MEDDRA:10060752", "MEDDRA:10064615", "MEDDRA:10064708", "NCIT:C34710", "SNOMEDCT:398796005", "medgen:9364"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0F7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor-like protein 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0F7-1", "PR:Q9H0F7-1", "ENSEMBL:ENSP00000337722", "ENSEMBL:ENSP00000337722.2", "ENSEMBL:ENSP00000418057", "ENSEMBL:ENSP00000418057.1", "ENSEMBL:ENSP00000418740", "ENSEMBL:ENSP00000418740.2", "ENSEMBL:ENSP00000419619", "ENSEMBL:ENSP00000419619.1"], "information_content": 100.0}
{"id": "NCBIGene:11164", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUDT5", "equivalent_identifiers": ["NCBIGene:11164", "ENSEMBL:ENSG00000165609", "HGNC:8052", "OMIM:609230", "UMLS:C1417883", "UniProtKB:Q9UKK9", "PR:Q9UKK9", "ENSEMBL:ENSP00000419628", "ENSEMBL:ENSP00000419628.1", "UMLS:C0911874", "MESH:C403715"], "information_content": 84.8}
{"id": "NCBIGene:54970", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTC12", "equivalent_identifiers": ["NCBIGene:54970", "ENSEMBL:ENSG00000149292", "HGNC:23700", "OMIM:610732", "UMLS:C1428204", "UniProtKB:A8K8G6", "UMLS:C1453468", "MESH:C487552", "UniProtKB:J3KR69", "ENSEMBL:ENSP00000419652", "ENSEMBL:ENSP00000419652.2", "UniProtKB:Q53G14", "UniProtKB:Q9H892", "PR:Q9H892"]}
{"id": "MONDO:0012728", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Brugada syndrome 2", "equivalent_identifiers": ["MONDO:0012728", "DOID:0110219", "OMIM:611777", "UMLS:C2673193", "MESH:C567087", "medgen:382031"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULE3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DENN domain-containing protein 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULE3-1", "PR:Q9ULE3-1", "ENSEMBL:ENSP00000275884", "ENSEMBL:ENSP00000275884.6", "ENSEMBL:ENSP00000419654", "ENSEMBL:ENSP00000419654.1", "ENSEMBL:ENSP00000442245", "ENSEMBL:ENSP00000442245.1"], "information_content": 100.0}
{"id": "NCBIGene:6742", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSBP1", "equivalent_identifiers": ["NCBIGene:6742", "ENSEMBL:ENSG00000106028", "HGNC:11317", "OMIM:600439", "UMLS:C1420424", "UniProtKB:A4D1U3", "UniProtKB:B7Z268", "UniProtKB:Q04837", "PR:Q04837", "ENSEMBL:ENSP00000265304", "ENSEMBL:ENSP00000265304.6", "ENSEMBL:ENSP00000419388", "ENSEMBL:ENSP00000419388.1", "ENSEMBL:ENSP00000419541", "ENSEMBL:ENSP00000419541.1", "ENSEMBL:ENSP00000419665", "ENSEMBL:ENSP00000419665.1", "ENSEMBL:ENSP00000420485", "ENSEMBL:ENSP00000420485.1", "ENSEMBL:ENSP00000458815", "ENSEMBL:ENSP00000458815.2", "ENSEMBL:ENSP00000459208", "ENSEMBL:ENSP00000459208.2", "ENSEMBL:ENSP00000459367", "ENSEMBL:ENSP00000459367.2", "ENSEMBL:ENSP00000460028", "ENSEMBL:ENSP00000460028.2", "ENSEMBL:ENSP00000461884", "ENSEMBL:ENSP00000461884.2", "ENSEMBL:ENSP00000480488", "ENSEMBL:ENSP00000480488.1", "UMLS:C1610440", "MESH:C504091"], "information_content": 92.8}
{"id": "UniProtKB:P19793-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinoic acid receptor RXR-alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P19793-1", "PR:P19793-1", "ENSEMBL:ENSP00000419692", "ENSEMBL:ENSP00000419692.1"], "information_content": 100.0}
{"id": "UniProtKB:A6PVL3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinocilin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:A6PVL3-1", "PR:A6PVL3-1", "ENSEMBL:ENSP00000419705", "ENSEMBL:ENSP00000419705.3"], "information_content": 100.0}
{"id": "NCBIGene:389827", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYMK", "equivalent_identifiers": ["NCBIGene:389827", "ENSEMBL:ENSG00000187616", "HGNC:33778", "OMIM:615345", "UMLS:C2828870", "UniProtKB:A6NI61", "PR:A6NI61", "ENSEMBL:ENSP00000419712", "ENSEMBL:ENSP00000419712.2", "UMLS:C4743353", "MESH:C000629166"], "information_content": 95.4}
{"id": "UniProtKB:Q96CB9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-cytosine rRNA methyltransferase NSUN4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CB9-1", "PR:Q96CB9-1", "ENSEMBL:ENSP00000419740", "ENSEMBL:ENSP00000419740.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H8M2-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain-containing protein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8M2-5", "PR:Q9H8M2-5", "ENSEMBL:ENSP00000419765", "ENSEMBL:ENSP00000419765.1"], "information_content": 100.0}
{"id": "UniProtKB:Q00535-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q00535-1", "PR:Q00535-1", "ENSEMBL:ENSP00000419782", "ENSEMBL:ENSP00000419782.1"], "information_content": 100.0}
{"id": "NCBIGene:57529", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTL9", "equivalent_identifiers": ["NCBIGene:57529", "ENSEMBL:ENSG00000243978", "HGNC:29245", "OMIM:300965", "UMLS:C1538833", "UniProtKB:Q8NET4", "PR:Q8NET4", "ENSEMBL:ENSP00000419786", "ENSEMBL:ENSP00000419786.2", "ENSEMBL:ENSP00000430395", "ENSEMBL:ENSP00000430395.2", "ENSEMBL:ENSP00000441452", "ENSEMBL:ENSP00000441452.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2N7-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 13 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2N7-5", "PR:Q9P2N7-5", "ENSEMBL:ENSP00000419803", "ENSEMBL:ENSP00000419803.2"], "information_content": 100.0}
{"id": "UniProtKB:P49915-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GMP synthase [glutamine-hydrolyzing] isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49915-1", "PR:P49915-1", "ENSEMBL:ENSP00000419851", "ENSEMBL:ENSP00000419851.1"], "information_content": 100.0}
{"id": "UniProtKB:O95674-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidate cytidylyltransferase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95674-1", "PR:O95674-1", "ENSEMBL:ENSP00000419879", "ENSEMBL:ENSP00000419879.1"], "information_content": 100.0}
{"id": "MONDO:0024607", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital muscular dystrophy with cataracts and intellectual disability", "equivalent_identifiers": ["MONDO:0024607", "DOID:0080197", "OMIM:617404", "orphanet:662184", "EFO:0009149", "UMLS:C4479410", "medgen:1382291"], "information_content": 100.0}
{"id": "NCBIGene:5890", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAD51B", "equivalent_identifiers": ["NCBIGene:5890", "ENSEMBL:ENSG00000182185", "HGNC:9822", "OMIM:602948", "UMLS:C1419241", "UniProtKB:C9JYJ0", "ENSEMBL:ENSP00000419881", "ENSEMBL:ENSP00000419881.1", "UMLS:C1439167", "MESH:C413002", "UniProtKB:O15315", "PR:O15315", "UMLS:C2983397"]}
{"id": "NCBIGene:54596", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "L1TD1", "equivalent_identifiers": ["NCBIGene:54596", "ENSEMBL:ENSG00000240563", "HGNC:25595", "OMIM:621222", "UMLS:C1825783", "UniProtKB:Q5T7N2", "PR:Q5T7N2", "ENSEMBL:ENSP00000419901", "ENSEMBL:ENSP00000419901.1", "UMLS:C3251883", "MESH:C562346"], "information_content": 100.0}
{"id": "UniProtKB:Q99612-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "krueppel-like factor 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99612-1", "PR:Q99612-1", "ENSEMBL:ENSP00000419923", "ENSEMBL:ENSP00000419923.1"], "information_content": 95.4}
{"id": "NCBIGene:222659", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PXT1", "equivalent_identifiers": ["NCBIGene:222659", "ENSEMBL:ENSG00000179165", "HGNC:18312", "UMLS:C1538755", "UniProtKB:Q8NFP0", "PR:Q8NFP0", "ENSEMBL:ENSP00000419944", "ENSEMBL:ENSP00000419944.1"], "information_content": 100.0}
{"id": "NCBIGene:30816", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERVW-1", "equivalent_identifiers": ["NCBIGene:30816", "ENSEMBL:ENSG00000242950", "HGNC:13525", "OMIM:604659", "UMLS:C1422036", "UniProtKB:D0EYG5", "UniProtKB:Q9UQF0", "PR:Q9UQF0", "ENSEMBL:ENSP00000419945", "ENSEMBL:ENSP00000419945.1", "ENSEMBL:ENSP00000474984", "ENSEMBL:ENSP00000474984.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14722-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated potassium channel subunit beta-1 isoform hKvB1.3 (human)", "equivalent_identifiers": ["UniProtKB:Q14722-1", "PR:Q14722-1", "ENSEMBL:ENSP00000419952", "ENSEMBL:ENSP00000419952.1"], "information_content": 100.0}
{"id": "NCBIGene:5447", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POR", "equivalent_identifiers": ["NCBIGene:5447", "ENSEMBL:ENSG00000127948", "HGNC:9208", "OMIM:124015", "UMLS:C1335232", "UniProtKB:A0A9L9PY49", "ENSEMBL:ENSP00000516443", "ENSEMBL:ENSP00000516443.1", "ENSEMBL:ENSP00000516444", "ENSEMBL:ENSP00000516444.1", "ENSEMBL:ENSP00000516445", "ENSEMBL:ENSP00000516445.1", "UniProtKB:P16435", "PR:P16435", "ENSEMBL:ENSP00000419970", "ENSEMBL:ENSP00000419970.2", "UMLS:C4078840", "MESH:C000602470"], "information_content": 87.2}
{"id": "UniProtKB:Q8IYB4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PEX5-related protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYB4-1", "PR:Q8IYB4-1", "ENSEMBL:ENSP00000419975", "ENSEMBL:ENSP00000419975.1"], "information_content": 100.0}
{"id": "UniProtKB:P17509-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Hox-B6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P17509-1", "PR:P17509-1", "ENSEMBL:ENSP00000225648", "ENSEMBL:ENSP00000225648.3", "ENSEMBL:ENSP00000420009", "ENSEMBL:ENSP00000420009.2"], "information_content": 100.0}
{"id": "UniProtKB:P57054-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform B (human)", "equivalent_identifiers": ["UniProtKB:P57054-1", "PR:P57054-1", "ENSEMBL:ENSP00000420037", "ENSEMBL:ENSP00000420037.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NS61-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-type potassium channel modulatory protein KCNIP2 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q9NS61-6", "PR:Q9NS61-6", "ENSEMBL:ENSP00000420040", "ENSEMBL:ENSP00000420040.1"], "information_content": 100.0}
{"id": "NCBIGene:27230", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERP1", "equivalent_identifiers": ["NCBIGene:27230", "ENSEMBL:ENSG00000120742", "HGNC:10759", "OMIM:617674", "UMLS:C2239922", "UniProtKB:Q9Y6X1", "PR:Q9Y6X1", "ENSEMBL:ENSP00000239944", "ENSEMBL:ENSP00000239944.2", "ENSEMBL:ENSP00000420076", "ENSEMBL:ENSP00000420076.1", "UMLS:C3501525", "MESH:C575068"], "information_content": 95.4}
{"id": "NCBIGene:22865", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLITRK3", "equivalent_identifiers": ["NCBIGene:22865", "ENSEMBL:ENSG00000121871", "HGNC:23501", "OMIM:609679", "UMLS:C1428105", "UniProtKB:O94933", "PR:O94933", "ENSEMBL:ENSP00000241274", "ENSEMBL:ENSP00000241274.3", "ENSEMBL:ENSP00000420091", "ENSEMBL:ENSP00000420091.1", "UMLS:C4277417", "MESH:C000605829"], "information_content": 95.4}
{"id": "NCBIGene:9367", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB9A", "equivalent_identifiers": ["NCBIGene:9367", "ENSEMBL:ENSG00000123595", "HGNC:9792", "OMIM:300284", "UMLS:C1419219", "UniProtKB:P51151", "PR:P51151", "ENSEMBL:ENSP00000420127", "ENSEMBL:ENSP00000420127.1", "ENSEMBL:ENSP00000480777", "ENSEMBL:ENSP00000480777.1", "UMLS:C0213686", "MESH:C079856"], "information_content": 90.9}
{"id": "UniProtKB:Q9NRY7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid scramblase 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRY7-2", "PR:Q9NRY7-2", "ENSEMBL:ENSP00000420132", "ENSEMBL:ENSP00000420132.1", "ENSEMBL:ENSP00000512413", "ENSEMBL:ENSP00000512413.1"], "information_content": 100.0}
{"id": "NCBIGene:8702", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B4GALT4", "equivalent_identifiers": ["NCBIGene:8702", "ENSEMBL:ENSG00000121578", "HGNC:927", "OMIM:604015", "UMLS:C1412722", "UniProtKB:B2RAZ5", "UMLS:C5773082", "MESH:C000723928", "UniProtKB:B3KM35", "UniProtKB:E7ETS9", "ENSEMBL:ENSP00000420665", "ENSEMBL:ENSP00000420665.1", "UniProtKB:O60513", "PR:O60513", "ENSEMBL:ENSP00000352144", "ENSEMBL:ENSP00000352144.3", "ENSEMBL:ENSP00000377360", "ENSEMBL:ENSP00000377360.2", "ENSEMBL:ENSP00000420161", "ENSEMBL:ENSP00000420161.1"], "information_content": 92.8}
{"id": "NCBIGene:2939", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSTA2", "equivalent_identifiers": ["NCBIGene:2939", "ENSEMBL:ENSG00000244067", "HGNC:4627", "OMIM:138360", "UMLS:C1415329", "UniProtKB:A0A140VKE2", "UniProtKB:A8K987", "UniProtKB:P09210", "PR:P09210", "ENSEMBL:ENSP00000420168", "ENSEMBL:ENSP00000420168.1"], "information_content": 95.4}
{"id": "NCBIGene:405754", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERVFRD-1", "equivalent_identifiers": ["NCBIGene:405754", "ENSEMBL:ENSG00000244476", "HGNC:33823", "OMIM:610524", "UMLS:C1864667", "UniProtKB:P60508", "PR:P60508", "ENSEMBL:ENSP00000420174", "ENSEMBL:ENSP00000420174.1", "UMLS:C1869754", "MESH:C518353"], "information_content": 100.0}
{"id": "NCBIGene:56655", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLE4", "equivalent_identifiers": ["NCBIGene:56655", "ENSEMBL:ENSG00000115350", "HGNC:18755", "OMIM:607269", "UMLS:C1425761", "UniProtKB:Q9NR33", "PR:Q9NR33", "ENSEMBL:ENSP00000420176", "ENSEMBL:ENSP00000420176.1"], "information_content": 95.4}
{"id": "UniProtKB:Q49A88-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 14 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q49A88-6", "PR:Q49A88-6", "ENSEMBL:ENSP00000420180", "ENSEMBL:ENSP00000420180.3"], "information_content": 100.0}
{"id": "UniProtKB:B3KU38-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IQCJ-SCHIP1 readthrough transcript protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:B3KU38-1", "PR:B3KU38-1", "ENSEMBL:ENSP00000420182", "ENSEMBL:ENSP00000420182.1"], "information_content": 100.0}
{"id": "UniProtKB:P41180-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "extracellular calcium-sensing receptor isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P41180-2", "PR:P41180-2", "ENSEMBL:ENSP00000420194", "ENSEMBL:ENSP00000420194.1"], "information_content": 100.0}
{"id": "UniProtKB:O75494-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/arginine-rich splicing factor 10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75494-1", "PR:O75494-1", "ENSEMBL:ENSP00000420195", "ENSEMBL:ENSP00000420195.1"], "information_content": 100.0}
{"id": "NCBIGene:141", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADPRH", "equivalent_identifiers": ["NCBIGene:141", "ENSEMBL:ENSG00000144843", "HGNC:269", "OMIM:603081", "UMLS:C1412252", "UniProtKB:A8K6X2", "UniProtKB:B4E341", "UniProtKB:P54922", "PR:P54922", "ENSEMBL:ENSP00000349496", "ENSEMBL:ENSP00000349496.3", "ENSEMBL:ENSP00000417430", "ENSEMBL:ENSP00000417430.1", "ENSEMBL:ENSP00000417528", "ENSEMBL:ENSP00000417528.1", "ENSEMBL:ENSP00000420200", "ENSEMBL:ENSP00000420200.1"], "information_content": 100.0}
{"id": "UniProtKB:O15211-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ral guanine nucleotide dissociation stimulator-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15211-1", "PR:O15211-1", "ENSEMBL:ENSP00000372691", "ENSEMBL:ENSP00000372691.4", "ENSEMBL:ENSP00000390098", "ENSEMBL:ENSP00000390098.2", "ENSEMBL:ENSP00000407088", "ENSEMBL:ENSP00000407088.2", "ENSEMBL:ENSP00000412152", "ENSEMBL:ENSP00000412152.2", "ENSEMBL:ENSP00000420211", "ENSEMBL:ENSP00000420211.1"], "information_content": 100.0}
{"id": "UniProtKB:O75369-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "filamin-B isoform h8 (human)", "equivalent_identifiers": ["UniProtKB:O75369-8", "PR:O75369-8", "ENSEMBL:ENSP00000420213", "ENSEMBL:ENSP00000420213.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXQ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carboxypeptidase A5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXQ8-1", "PR:Q8WXQ8-1", "ENSEMBL:ENSP00000376907", "ENSEMBL:ENSP00000376907.3", "ENSEMBL:ENSP00000417314", "ENSEMBL:ENSP00000417314.1", "ENSEMBL:ENSP00000418183", "ENSEMBL:ENSP00000418183.1", "ENSEMBL:ENSP00000419025", "ENSEMBL:ENSP00000419025.2", "ENSEMBL:ENSP00000420237", "ENSEMBL:ENSP00000420237.1"], "information_content": 100.0}
{"id": "NCBIGene:1539", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYLC2", "equivalent_identifiers": ["NCBIGene:1539", "ENSEMBL:ENSG00000155833", "HGNC:2583", "OMIM:604035", "UMLS:C1413849", "UniProtKB:Q14093", "PR:Q14093", "ENSEMBL:ENSP00000417674", "ENSEMBL:ENSP00000417674.1", "ENSEMBL:ENSP00000420256", "ENSEMBL:ENSP00000420256.1", "ENSEMBL:ENSP00000478399", "ENSEMBL:ENSP00000478399.1", "UniProtKB:Q6PEJ5"], "information_content": 100.0}
{"id": "MONDO:0001923", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vitreoretinal dystrophy", "equivalent_identifiers": ["MONDO:0001923", "DOID:14251", "UMLS:C0154863", "SNOMEDCT:79556007", "medgen:509690", "icd11.foundation:817777781", "ICD10:H35.51", "ICD9:362.73"], "information_content": 100.0}
{"id": "UniProtKB:Q15406-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor subfamily 6 group A member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15406-1", "PR:Q15406-1", "ENSEMBL:ENSP00000420267", "ENSEMBL:ENSP00000420267.1"], "information_content": 100.0}
{"id": "UniProtKB:P40394-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "all-trans-retinol dehydrogenase [NAD(+)] ADH7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P40394-2", "PR:P40394-2", "ENSEMBL:ENSP00000420269", "ENSEMBL:ENSP00000420269.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAS1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Kist isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAS1-1", "PR:Q8TAS1-1", "ENSEMBL:ENSP00000420270", "ENSEMBL:ENSP00000420270.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NDX5-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyhomeotic-like protein 3 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDX5-7", "PR:Q8NDX5-7", "ENSEMBL:ENSP00000420294", "ENSEMBL:ENSP00000420294.1"], "information_content": 100.0}
{"id": "UniProtKB:P35913-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35913-1", "PR:P35913-1", "ENSEMBL:ENSP00000420295", "ENSEMBL:ENSP00000420295.1"], "information_content": 100.0}
{"id": "UniProtKB:P41217-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "OX-2 membrane glycoprotein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P41217-3", "PR:P41217-3", "ENSEMBL:ENSP00000420298", "ENSEMBL:ENSP00000420298.1"], "information_content": 100.0}
{"id": "NCBIGene:8563", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "THOC5", "equivalent_identifiers": ["NCBIGene:8563", "ENSEMBL:ENSG00000100296", "HGNC:19074", "OMIM:612733", "UMLS:C1425991", "UniProtKB:Q13769", "PR:Q13769", "ENSEMBL:ENSP00000380969", "ENSEMBL:ENSP00000380969.1", "ENSEMBL:ENSP00000380970", "ENSEMBL:ENSP00000380970.1", "ENSEMBL:ENSP00000380971", "ENSEMBL:ENSP00000380971.2", "ENSEMBL:ENSP00000420306", "ENSEMBL:ENSP00000420306.1", "UMLS:C1334876", "UMLS:C2355379", "MESH:C530378"], "information_content": 87.2}
{"id": "NCBIGene:9349", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL23", "equivalent_identifiers": ["NCBIGene:9349", "ENSEMBL:ENSG00000125691", "HGNC:10316", "OMIM:603662", "UMLS:C1419640", "UniProtKB:P62829", "PR:P62829", "ENSEMBL:ENSP00000377865", "ENSEMBL:ENSP00000377865.1", "ENSEMBL:ENSP00000420311", "ENSEMBL:ENSP00000420311.2", "ENSEMBL:ENSP00000520610", "ENSEMBL:ENSP00000520610.1", "UMLS:C1454274"], "information_content": 87.2}
{"id": "UniProtKB:Q9Y6N7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "roundabout homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6N7-1", "PR:Q9Y6N7-1", "ENSEMBL:ENSP00000420321", "ENSEMBL:ENSP00000420321.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H446-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RWD domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H446-1", "PR:Q9H446-1", "ENSEMBL:ENSP00000420357", "ENSEMBL:ENSP00000420357.2"], "information_content": 100.0}
{"id": "NCBIGene:8530", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CST7", "equivalent_identifiers": ["NCBIGene:8530", "ENSEMBL:ENSG00000077984", "HGNC:2479", "OMIM:603253", "UMLS:C1413776", "UniProtKB:O76096", "PR:O76096", "ENSEMBL:ENSP00000420384", "ENSEMBL:ENSP00000420384.1", "UMLS:C1431659", "MESH:C116891"], "information_content": 92.8}
{"id": "NCBIGene:23250", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP11A", "equivalent_identifiers": ["NCBIGene:23250", "ENSEMBL:ENSG00000068650", "HGNC:13552", "OMIM:605868", "UMLS:C1422060", "UniProtKB:E9PEJ6", "ENSEMBL:ENSP00000364781", "ENSEMBL:ENSP00000364781.2", "UMLS:C2932766", "MESH:C548142", "UniProtKB:P98196", "PR:P98196", "ENSEMBL:ENSP00000364796", "ENSEMBL:ENSP00000364796.3", "ENSEMBL:ENSP00000420387", "ENSEMBL:ENSP00000420387.1", "UniProtKB:Q6PJ25"], "information_content": 92.8}
{"id": "UniProtKB:Q8TD17-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 398 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TD17-1", "PR:Q8TD17-1", "ENSEMBL:ENSP00000420418", "ENSEMBL:ENSP00000420418.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P003-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein cornichon homolog 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P003-1", "PR:Q9P003-1", "ENSEMBL:ENSP00000420443", "ENSEMBL:ENSP00000420443.1"], "information_content": 100.0}
{"id": "UniProtKB:Q2M2H8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable maltase-glucoamylase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2M2H8-1", "PR:Q2M2H8-1", "ENSEMBL:ENSP00000420449", "ENSEMBL:ENSP00000420449.3", "ENSEMBL:ENSP00000488423", "ENSEMBL:ENSP00000488423.1"], "information_content": 100.0}
{"id": "NCBIGene:221443", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OARD1", "equivalent_identifiers": ["NCBIGene:221443", "ENSEMBL:ENSG00000124596", "HGNC:21257", "OMIM:614393", "UMLS:C1427460", "UniProtKB:C9J5P1", "ENSEMBL:ENSP00000362247", "ENSEMBL:ENSP00000362247.2", "ENSEMBL:ENSP00000418400", "ENSEMBL:ENSP00000418400.1", "ENSEMBL:ENSP00000487484", "ENSEMBL:ENSP00000487484.1", "UMLS:C3657218", "MESH:C581913", "UniProtKB:C9JA90", "ENSEMBL:ENSP00000418098", "ENSEMBL:ENSP00000418098.1", "ENSEMBL:ENSP00000419875", "ENSEMBL:ENSP00000419875.1", "UniProtKB:C9JXC3", "ENSEMBL:ENSP00000419175", "ENSEMBL:ENSP00000419175.1", "UniProtKB:Q05CR9", "UniProtKB:Q9Y530", "PR:Q9Y530", "ENSEMBL:ENSP00000416829", "ENSEMBL:ENSP00000416829.2", "ENSEMBL:ENSP00000420193", "ENSEMBL:ENSP00000420193.1", "ENSEMBL:ENSP00000420484", "ENSEMBL:ENSP00000420484.1", "ENSEMBL:ENSP00000420601", "ENSEMBL:ENSP00000420601.1"], "information_content": 92.8}
{"id": "MONDO:0007218", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type A4", "equivalent_identifiers": ["MONDO:0007218", "DOID:0110967", "OMIM:112800", "orphanet:93394", "UMLS:C1862139", "MESH:C537097", "SNOMEDCT:715721005", "medgen:354669", "icd11.foundation:10379198", "HP:0031043"], "information_content": 100.0}
{"id": "UniProtKB:Q9UP52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transferrin receptor protein 2 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q9UP52-1", "PR:Q9UP52-1", "ENSEMBL:ENSP00000223051", "ENSEMBL:ENSP00000223051.3", "ENSEMBL:ENSP00000420525", "ENSEMBL:ENSP00000420525.1"], "information_content": 100.0}
{"id": "UniProtKB:Q00059-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor A, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q00059-1", "PR:Q00059-1", "ENSEMBL:ENSP00000420588", "ENSEMBL:ENSP00000420588.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N766-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ER membrane protein complex subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N766-1", "PR:Q8N766-1", "ENSEMBL:ENSP00000420608", "ENSEMBL:ENSP00000420608.1"], "information_content": 100.0}
{"id": "NCBIGene:25976", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIPARP", "equivalent_identifiers": ["NCBIGene:25976", "ENSEMBL:ENSG00000163659", "HGNC:23696", "OMIM:612480", "UMLS:C1428200", "UniProtKB:Q05BQ2", "UniProtKB:Q7Z3E1", "PR:Q7Z3E1", "ENSEMBL:ENSP00000295924", "ENSEMBL:ENSP00000295924.7", "ENSEMBL:ENSP00000418757", "ENSEMBL:ENSP00000418757.1", "ENSEMBL:ENSP00000420612", "ENSEMBL:ENSP00000420612.1", "ENSEMBL:ENSP00000438345", "ENSEMBL:ENSP00000438345.1", "UMLS:C3657668", "MESH:C579717"], "information_content": 100.0}
{"id": "UniProtKB:Q14188-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor Dp-2 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q14188-1", "PR:Q14188-1", "ENSEMBL:ENSP00000420616", "ENSEMBL:ENSP00000420616.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWA4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitofusin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWA4-1", "PR:Q8IWA4-1", "ENSEMBL:ENSP00000263969", "ENSEMBL:ENSP00000263969.5", "ENSEMBL:ENSP00000420617", "ENSEMBL:ENSP00000420617.1"], "information_content": 100.0}
{"id": "MONDO:0014775", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "combined oxidative phosphorylation deficiency 28", "equivalent_identifiers": ["MONDO:0014775", "DOID:0111470", "OMIM:616794", "orphanet:466784", "UMLS:C5569081", "SNOMEDCT:1187640000", "medgen:1800504"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNL2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "translocon-associated protein subunit gamma isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNL2-2", "PR:Q9UNL2-2", "ENSEMBL:ENSP00000420641", "ENSEMBL:ENSP00000420641.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H974-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "queuine tRNA-ribosyltransferase accessory subunit 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9H974-4", "PR:Q9H974-4", "ENSEMBL:ENSP00000420682", "ENSEMBL:ENSP00000420682.1"], "information_content": 100.0}
{"id": "NCBIGene:63931", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPS14", "equivalent_identifiers": ["NCBIGene:63931", "ENSEMBL:ENSG00000120333", "HGNC:14049", "OMIM:611978", "UMLS:C1422373", "UniProtKB:O60783", "PR:O60783", "ENSEMBL:ENSP00000420714", "ENSEMBL:ENSP00000420714.1"], "information_content": 95.4}
{"id": "UniProtKB:Q2M3W8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 181 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2M3W8-1", "PR:Q2M3W8-1", "ENSEMBL:ENSP00000420727", "ENSEMBL:ENSP00000420727.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A4W8X8U3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A4W8X8U3_HUMAN Proline rich protein BstNI subfamily 1 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A4W8X8U3", "ENSEMBL:ENSP00000420826", "ENSEMBL:ENSP00000420826.2", "ENSEMBL:ENSP00000488239", "ENSEMBL:ENSP00000488239.1"]}
{"id": "UniProtKB:Q9Y5I3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin alpha-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5I3-1", "PR:Q9Y5I3-1", "ENSEMBL:ENSP00000420840", "ENSEMBL:ENSP00000420840.3", "ENSEMBL:ENSP00000517137", "ENSEMBL:ENSP00000517137.1"], "information_content": 100.0}
{"id": "NCBIGene:167359", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NIM1K", "equivalent_identifiers": ["NCBIGene:167359", "ENSEMBL:ENSG00000177453", "HGNC:28646", "UMLS:C3811518", "UniProtKB:Q8IY84", "PR:Q8IY84", "ENSEMBL:ENSP00000313572", "ENSEMBL:ENSP00000313572.2", "ENSEMBL:ENSP00000420849", "ENSEMBL:ENSP00000420849.1"], "information_content": 92.8}
{"id": "MONDO:0011721", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal myopathy with anterior tibial onset", "equivalent_identifiers": ["MONDO:0011721", "DOID:0111187", "OMIM:606768", "orphanet:178400", "UMLS:C1847532", "MESH:C564664", "SNOMEDCT:782675008", "medgen:335706", "icd11.foundation:651559966"], "information_content": 100.0}
{"id": "NCBIGene:90288", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EFCAB12", "equivalent_identifiers": ["NCBIGene:90288", "ENSEMBL:ENSG00000172771", "HGNC:28061", "UMLS:C3541515", "UniProtKB:B3KXU6", "UniProtKB:Q6NXP0", "PR:Q6NXP0", "ENSEMBL:ENSP00000420854", "ENSEMBL:ENSP00000420854.1"], "information_content": 100.0}
{"id": "MONDO:0013449", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 7", "equivalent_identifiers": ["MONDO:0013449", "DOID:0110333", "OMIM:613829", "UMLS:C3151192", "medgen:462542"], "information_content": 100.0}
{"id": "UniProtKB:Q96LW4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed primase/polymerase protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LW4-1", "PR:Q96LW4-1", "ENSEMBL:ENSP00000313816", "ENSEMBL:ENSP00000313816.6", "ENSEMBL:ENSP00000420860", "ENSEMBL:ENSP00000420860.1"], "information_content": 100.0}
{"id": "UniProtKB:B9EJG8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 150C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:B9EJG8-1", "PR:B9EJG8-1", "ENSEMBL:ENSP00000403438", "ENSEMBL:ENSP00000403438.2", "ENSEMBL:ENSP00000420919", "ENSEMBL:ENSP00000420919.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15119-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15119-1", "PR:Q15119-1", "ENSEMBL:ENSP00000420927", "ENSEMBL:ENSP00000420927.1"], "information_content": 100.0}
{"id": "UniProtKB:Q1W4C9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine protease inhibitor Kazal-type 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q1W4C9-1", "PR:Q1W4C9-1", "ENSEMBL:ENSP00000381468", "ENSEMBL:ENSP00000381468.4", "ENSEMBL:ENSP00000421048", "ENSEMBL:ENSP00000421048.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZU67-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BEN domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZU67-1", "PR:Q6ZU67-1", "ENSEMBL:ENSP00000421169", "ENSEMBL:ENSP00000421169.1"], "information_content": 100.0}
{"id": "NCBIGene:158835", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AWAT2", "equivalent_identifiers": ["NCBIGene:158835", "ENSEMBL:ENSG00000147160", "HGNC:23251", "OMIM:300925", "UMLS:C1539289", "UniProtKB:Q6E213", "PR:Q6E213", "ENSEMBL:ENSP00000421172", "ENSEMBL:ENSP00000421172.1", "UMLS:C1569546", "MESH:C500796"], "information_content": 95.4}
{"id": "NCBIGene:55534", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAML3", "equivalent_identifiers": ["NCBIGene:55534", "ENSEMBL:ENSG00000196782", "HGNC:16272", "OMIM:608991", "UMLS:C1424142", "UniProtKB:Q96JK9", "PR:Q96JK9", "ENSEMBL:ENSP00000421180", "ENSEMBL:ENSP00000421180.1", "UMLS:C1174310", "MESH:C471298"], "information_content": 100.0}
{"id": "NCBIGene:152586", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MGAT4D", "equivalent_identifiers": ["NCBIGene:152586", "ENSEMBL:ENSG00000205301", "HGNC:43619", "OMIM:610310", "UMLS:C1853199", "UniProtKB:A6NG13", "PR:A6NG13", "ENSEMBL:ENSP00000421185", "ENSEMBL:ENSP00000421185.1", "UMLS:C4276844", "MESH:C000608129"], "information_content": 100.0}
{"id": "NCBIGene:7710", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF154", "equivalent_identifiers": ["NCBIGene:7710", "ENSEMBL:ENSG00000179909", "HGNC:12939", "OMIM:604085", "UMLS:C1421642", "UniProtKB:Q13106", "PR:Q13106", "ENSEMBL:ENSP00000421258", "ENSEMBL:ENSP00000421258.2", "ENSEMBL:ENSP00000469633", "ENSEMBL:ENSP00000469633.1", "ENSEMBL:ENSP00000507206", "ENSEMBL:ENSP00000507206.1", "UMLS:C3852485", "MESH:C000588442"], "information_content": 95.4}
{"id": "UniProtKB:Q0GE19-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/bile acid cotransporter 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q0GE19-1", "PR:Q0GE19-1", "ENSEMBL:ENSP00000421275", "ENSEMBL:ENSP00000421275.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HD67-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-X isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HD67-1", "PR:Q9HD67-1", "ENSEMBL:ENSP00000421280", "ENSEMBL:ENSP00000421280.1"], "information_content": 100.0}
{"id": "UniProtKB:K7N7A8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "K7N7A8_HUMAN Ubiquitin carboxyl-terminal hydrolase MINDY (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:K7N7A8", "ENSEMBL:ENSP00000421315", "ENSEMBL:ENSP00000421315.2"]}
{"id": "UniProtKB:P98194-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-transporting ATPase type 2C member 1 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:P98194-7", "PR:P98194-7", "ENSEMBL:ENSP00000421326", "ENSEMBL:ENSP00000421326.3"], "information_content": 100.0}
{"id": "UniProtKB:Q86UG4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier organic anion transporter family member 6A1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UG4-1", "PR:Q86UG4-1", "ENSEMBL:ENSP00000369135", "ENSEMBL:ENSP00000369135.3", "ENSEMBL:ENSP00000421339", "ENSEMBL:ENSP00000421339.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H5I5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "piezo-type mechanosensitive ion channel component 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H5I5-1", "PR:Q9H5I5-1", "ENSEMBL:ENSP00000421377", "ENSEMBL:ENSP00000421377.3"], "information_content": 100.0}
{"id": "UniProtKB:Q96H20-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar-sorting protein SNF8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96H20-1", "PR:Q96H20-1", "ENSEMBL:ENSP00000421380", "ENSEMBL:ENSP00000421380.1"], "information_content": 100.0}
{"id": "NCBIGene:83853", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ROPN1L", "equivalent_identifiers": ["NCBIGene:83853", "ENSEMBL:ENSG00000145491", "HGNC:24060", "OMIM:611756", "UMLS:C1538881", "UniProtKB:Q96C74", "PR:Q96C74", "ENSEMBL:ENSP00000274134", "ENSEMBL:ENSP00000274134.4", "ENSEMBL:ENSP00000421405", "ENSEMBL:ENSP00000421405.1", "UMLS:C1173324", "MESH:C470173"], "information_content": 100.0}
{"id": "MONDO:0013322", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial adult myoclonic, 3", "equivalent_identifiers": ["MONDO:0013322", "DOID:0111695", "OMIM:613608", "UMLS:C3150860", "MESH:C567098", "medgen:462210"], "information_content": 100.0}
{"id": "UniProtKB:Q13426-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA repair protein XRCC4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13426-1", "PR:Q13426-1", "ENSEMBL:ENSP00000342011", "ENSEMBL:ENSP00000342011.6", "ENSEMBL:ENSP00000421491", "ENSEMBL:ENSP00000421491.1"], "information_content": 100.0}
{"id": "NCBIGene:84105", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCBD2", "equivalent_identifiers": ["NCBIGene:84105", "ENSEMBL:ENSG00000132570", "HGNC:24474", "OMIM:609836", "UMLS:C1538596", "UniProtKB:Q9H0N5", "PR:Q9H0N5", "ENSEMBL:ENSP00000254908", "ENSEMBL:ENSP00000254908.6", "ENSEMBL:ENSP00000421544", "ENSEMBL:ENSP00000421544.1", "UMLS:C5197272", "MESH:C000631604"], "information_content": 100.0}
{"id": "MONDO:0010894", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 3", "equivalent_identifiers": ["MONDO:0010894", "DOID:0111102", "OMIM:600496", "UMLS:C1838100", "MESH:C563933", "NCIT:C129742", "SNOMEDCT:609570008", "medgen:324942"], "information_content": 100.0}
{"id": "NCBIGene:2856", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR33", "equivalent_identifiers": ["NCBIGene:2856", "ENSEMBL:ENSG00000214943", "HGNC:4489", "OMIM:610118", "UMLS:C1415226", "UniProtKB:D8VER1", "UMLS:C1614997", "MESH:C504823", "UniProtKB:Q49SQ1", "PR:Q49SQ1", "ENSEMBL:ENSP00000421557", "ENSEMBL:ENSP00000421557.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQW7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Xaa-Pro aminopeptidase 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQW7-3", "PR:Q9NQW7-3", "ENSEMBL:ENSP00000421566", "ENSEMBL:ENSP00000421566.1"], "information_content": 100.0}
{"id": "MONDO:0000709", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crohn ileitis", "equivalent_identifiers": ["MONDO:0000709", "DOID:0060189", "UMLS:C0020877", "UMLS:C0267380", "MESH:D007079", "MEDDRA:10011406", "MEDDRA:10021312", "MEDDRA:10021314", "NCIT:C35329", "NCIT:C84782", "SNOMEDCT:38106008", "SNOMEDCT:52457000", "medgen:82754", "HP:0032564"], "information_content": 92.8}
{"id": "MONDO:0001782", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mature cataract", "equivalent_identifiers": ["MONDO:0001782", "DOID:13717", "UMLS:C0152257", "UMLS:C3665439", "SNOMEDCT:193590000", "SNOMEDCT:849000", "medgen:784053"], "information_content": 100.0}
{"id": "NCBIGene:10189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALYREF", "equivalent_identifiers": ["NCBIGene:10189", "ENSEMBL:ENSG00000183684", "HGNC:19071", "OMIM:604171", "UMLS:C1425988", "UniProtKB:E9PB61", "ENSEMBL:ENSP00000421592", "ENSEMBL:ENSP00000421592.2", "UMLS:C1430731", "MESH:C105242", "UniProtKB:Q86V81", "PR:Q86V81"]}
{"id": "UniProtKB:Q495Y8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "speedy protein E2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q495Y8-1", "PR:Q495Y8-1", "ENSEMBL:ENSP00000421686", "ENSEMBL:ENSP00000421686.1", "ENSEMBL:ENSP00000509749", "ENSEMBL:ENSP00000509749.1"], "information_content": 100.0}
{"id": "MONDO:0002512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papillary adenocarcinoma", "equivalent_identifiers": ["MONDO:0002512", "DOID:3112", "UMLS:C0001420", "MESH:D000231", "NCIT:C2853", "SNOMEDCT:4797003", "medgen:123"], "information_content": 68.5}
{"id": "NCBIGene:2793", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNGT2", "equivalent_identifiers": ["NCBIGene:2793", "ENSEMBL:ENSG00000167083", "HGNC:4412", "OMIM:139391", "UMLS:C1415162", "UniProtKB:O14610", "PR:O14610", "ENSEMBL:ENSP00000300406", "ENSEMBL:ENSP00000300406.2", "ENSEMBL:ENSP00000421710", "ENSEMBL:ENSP00000421710.1", "ENSEMBL:ENSP00000422879", "ENSEMBL:ENSP00000422879.1", "ENSEMBL:ENSP00000423924", "ENSEMBL:ENSP00000423924.1", "ENSEMBL:ENSP00000426022", "ENSEMBL:ENSP00000426022.1", "UMLS:C5391683", "MESH:C000706959"], "information_content": 95.4}
{"id": "MONDO:0032762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 115", "equivalent_identifiers": ["MONDO:0032762", "DOID:0111643", "OMIM:618457", "UMLS:C5193108", "medgen:1681630"], "information_content": 100.0}
{"id": "UniProtKB:P02774-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vitamin D-binding protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P02774-3", "PR:P02774-3", "ENSEMBL:ENSP00000421725", "ENSEMBL:ENSP00000421725.1"], "information_content": 100.0}
{"id": "UniProtKB:Q2VPA4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "complement component receptor 1-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2VPA4-1", "PR:Q2VPA4-1", "ENSEMBL:ENSP00000421736", "ENSEMBL:ENSP00000421736.2"], "information_content": 100.0}
{"id": "NCBIGene:100534589", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXA10-HOXA9", "equivalent_identifiers": ["NCBIGene:100534589", "HGNC:51908", "UniProtKB:D6RAR5", "ENSEMBL:ENSP00000421799", "ENSEMBL:ENSP00000421799.3"]}
{"id": "NCBIGene:3083", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HGFAC", "equivalent_identifiers": ["NCBIGene:3083", "ENSEMBL:ENSG00000109758", "HGNC:4894", "OMIM:604552", "UMLS:C1415534", "UniProtKB:D6RAR4", "ENSEMBL:ENSP00000421801", "ENSEMBL:ENSP00000421801.1", "UniProtKB:Q04756", "PR:Q04756", "ENSEMBL:ENSP00000372224", "ENSEMBL:ENSP00000372224.4", "UMLS:C5442156"]}
{"id": "NCBIGene:25847", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANAPC13", "equivalent_identifiers": ["NCBIGene:25847", "ENSEMBL:ENSG00000129055", "HGNC:24540", "OMIM:614484", "UMLS:C1538274", "UniProtKB:A8K3Z6", "UniProtKB:Q9BS18", "PR:Q9BS18", "ENSEMBL:ENSP00000346987", "ENSEMBL:ENSP00000346987.5", "ENSEMBL:ENSP00000421760", "ENSEMBL:ENSP00000421760.1", "ENSEMBL:ENSP00000421842", "ENSEMBL:ENSP00000421842.1", "ENSEMBL:ENSP00000427327", "ENSEMBL:ENSP00000427327.1"], "information_content": 95.4}
{"id": "MONDO:0000889", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "haemophilus meningitis", "equivalent_identifiers": ["MONDO:0000889", "DOID:0080179", "EFO:1000955", "UMLS:C0025292", "UMLS:C0276028", "MESH:D008583", "MEDDRA:10018953", "MEDDRA:10018955", "MEDDRA:10019521", "MEDDRA:10027241", "MEDDRA:10060626", "MEDDRA:10060656", "SNOMEDCT:192643004", "SNOMEDCT:5900006", "medgen:7535", "ICD10:G00.0", "ICD9:320.0"], "information_content": 100.0}
{"id": "UniProtKB:Q96JG8-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanoma-associated antigen D4 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96JG8-4", "PR:Q96JG8-4", "ENSEMBL:ENSP00000421861", "ENSEMBL:ENSP00000421861.1", "ENSEMBL:ENSP00000472118", "ENSEMBL:ENSP00000472118.2"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000421868", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000421868", "equivalent_identifiers": ["ENSEMBL:ENSP00000421868"]}
{"id": "NCBIGene:140947", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCANP1", "equivalent_identifiers": ["NCBIGene:140947", "ENSEMBL:ENSG00000251380", "HGNC:24459", "OMIM:609710", "UMLS:C1824181", "UniProtKB:Q8TF63", "PR:Q8TF63", "ENSEMBL:ENSP00000421871", "ENSEMBL:ENSP00000421871.1", "UMLS:C1448247", "MESH:C446761"], "information_content": 100.0}
{"id": "UniProtKB:Q96RL1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BRCA1-A complex subunit RAP80 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RL1-1", "PR:Q96RL1-1", "ENSEMBL:ENSP00000366434", "ENSEMBL:ENSP00000366434.4", "ENSEMBL:ENSP00000421926", "ENSEMBL:ENSP00000421926.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96M27-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein PRRC1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96M27-3", "PR:Q96M27-3", "ENSEMBL:ENSP00000421965", "ENSEMBL:ENSP00000421965.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6TCH7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "progestin and adipoQ receptor family member 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6TCH7-1", "PR:Q6TCH7-1", "ENSEMBL:ENSP00000421981", "ENSEMBL:ENSP00000421981.1", "ENSEMBL:ENSP00000425080", "ENSEMBL:ENSP00000425080.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TF40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "folliculin-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF40-1", "PR:Q8TF40-1", "ENSEMBL:ENSP00000421985", "ENSEMBL:ENSP00000421985.1"], "information_content": 100.0}
{"id": "NCBIGene:89", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTN3", "equivalent_identifiers": ["NCBIGene:89", "ENSEMBL:ENSG00000248746", "HGNC:165", "OMIM:102574", "UMLS:C1412167", "UniProtKB:A0A087WSZ2", "ENSEMBL:ENSP00000422007", "ENSEMBL:ENSP00000422007.1", "UMLS:C1449249", "MESH:C118456", "UniProtKB:B4DZQ2", "UniProtKB:Q08043", "PR:Q08043", "ENSEMBL:ENSP00000426797", "ENSEMBL:ENSP00000426797.1"]}
{"id": "UniProtKB:Q6ZNB6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NF-X1-type zinc finger protein NFXL1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZNB6-1", "PR:Q6ZNB6-1", "ENSEMBL:ENSP00000333113", "ENSEMBL:ENSP00000333113.4", "ENSEMBL:ENSP00000370949", "ENSEMBL:ENSP00000370949.3", "ENSEMBL:ENSP00000422037", "ENSEMBL:ENSP00000422037.1"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000422067", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000422067", "equivalent_identifiers": ["ENSEMBL:ENSP00000422067"]}
{"id": "UniProtKB:Q0WX57", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U17LO_HUMAN Ubiquitin carboxyl-terminal hydrolase 17-like protein 24 (sprot)", "equivalent_identifiers": ["UniProtKB:Q0WX57", "PR:Q0WX57", "ENSEMBL:ENSP00000422097", "ENSEMBL:ENSP00000422097.1", "ENSEMBL:ENSP00000422887", "ENSEMBL:ENSP00000422887.1", "ENSEMBL:ENSP00000422969", "ENSEMBL:ENSP00000422969.1", "ENSEMBL:ENSP00000423211", "ENSEMBL:ENSP00000423211.1", "ENSEMBL:ENSP00000423777", "ENSEMBL:ENSP00000423777.1", "ENSEMBL:ENSP00000425375", "ENSEMBL:ENSP00000425375.1", "ENSEMBL:ENSP00000427366", "ENSEMBL:ENSP00000427366.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96PV7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM193B isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96PV7-3", "PR:Q96PV7-3", "ENSEMBL:ENSP00000422131", "ENSEMBL:ENSP00000422131.1"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000422176", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000422176", "equivalent_identifiers": ["ENSEMBL:ENSP00000422176"]}
{"id": "NCBIGene:57537", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SORCS2", "equivalent_identifiers": ["NCBIGene:57537", "ENSEMBL:ENSG00000184985", "HGNC:16698", "OMIM:606284", "UMLS:C1539804", "UniProtKB:Q96PQ0", "PR:Q96PQ0", "ENSEMBL:ENSP00000422185", "ENSEMBL:ENSP00000422185.2", "UMLS:C1701605", "MESH:C509461"], "information_content": 95.4}
{"id": "UniProtKB:Q6P4H8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP synthase subunit C lysine N-methyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P4H8-1", "PR:Q6P4H8-1", "ENSEMBL:ENSP00000422338", "ENSEMBL:ENSP00000422338.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEC7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione S-transferase C-terminal domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEC7-1", "PR:Q8NEC7-1", "ENSEMBL:ENSP00000353695", "ENSEMBL:ENSP00000353695.5", "ENSEMBL:ENSP00000378216", "ENSEMBL:ENSP00000378216.3", "ENSEMBL:ENSP00000422354", "ENSEMBL:ENSP00000422354.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96DE0-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U8 snoRNA-decapping enzyme isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96DE0-4", "PR:Q96DE0-4", "ENSEMBL:ENSP00000422375", "ENSEMBL:ENSP00000422375.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WZ71-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 158 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WZ71-1", "PR:Q8WZ71-1", "ENSEMBL:ENSP00000422431", "ENSEMBL:ENSP00000422431.1"], "information_content": 100.0}
{"id": "NCBIGene:6196", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS6KA2", "equivalent_identifiers": ["NCBIGene:6196", "ENSEMBL:ENSG00000071242", "HGNC:10431", "OMIM:601685", "UMLS:C1419743", "UniProtKB:B7Z3B5", "ENSEMBL:ENSP00000386050", "ENSEMBL:ENSP00000386050.3", "ENSEMBL:ENSP00000422484", "ENSEMBL:ENSP00000422484.1", "UniProtKB:F2Z2J1", "ENSEMBL:ENSP00000422435", "ENSEMBL:ENSP00000422435.1", "UniProtKB:Q15349", "PR:Q15349", "UMLS:C2002840", "UniProtKB:X5D337"]}
{"id": "UniProtKB:Q9NRA1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "platelet-derived growth factor C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRA1-1", "PR:Q9NRA1-1", "ENSEMBL:ENSP00000422464", "ENSEMBL:ENSP00000422464.1"], "information_content": 90.9}
{"id": "NCBIGene:158219", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTC39B", "equivalent_identifiers": ["NCBIGene:158219", "ENSEMBL:ENSG00000155158", "HGNC:23704", "OMIM:613574", "UMLS:C1428206", "UniProtKB:A0A8V8N5K5", "ENSEMBL:ENSP00000297615", "ENSEMBL:ENSP00000297615.6", "UniProtKB:A0A8V8NCV2", "ENSEMBL:ENSP00000370231", "ENSEMBL:ENSP00000370231.5", "UniProtKB:A0A8V8PNE1", "ENSEMBL:ENSP00000422496", "ENSEMBL:ENSP00000422496.2", "UniProtKB:Q5VTQ0", "PR:Q5VTQ0", "UMLS:C4742212", "MESH:C000628194"]}
{"id": "UniProtKB:Q9HAR2-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G protein-coupled receptor L3 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAR2-4", "PR:Q9HAR2-4", "ENSEMBL:ENSP00000422533", "ENSEMBL:ENSP00000422533.1"], "information_content": 100.0}
{"id": "UniProtKB:P58397-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "a disintegrin and metalloproteinase with thrombospondin motifs 12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P58397-1", "PR:P58397-1", "ENSEMBL:ENSP00000422554", "ENSEMBL:ENSP00000422554.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N7C3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable E3 ubiquitin-protein ligase TRIML2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N7C3-1", "PR:Q8N7C3-1", "ENSEMBL:ENSP00000422581", "ENSEMBL:ENSP00000422581.2", "ENSEMBL:ENSP00000507413", "ENSEMBL:ENSP00000507413.1"], "information_content": 100.0}
{"id": "UniProtKB:O94813-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "slit homolog 2 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94813-1", "PR:O94813-1", "ENSEMBL:ENSP00000422591", "ENSEMBL:ENSP00000422591.1"], "information_content": 100.0}
{"id": "UniProtKB:P33121-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "long-chain-fatty-acid--CoA ligase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P33121-1", "PR:P33121-1", "ENSEMBL:ENSP00000281455", "ENSEMBL:ENSP00000281455.2", "ENSEMBL:ENSP00000422607", "ENSEMBL:ENSP00000422607.1", "ENSEMBL:ENSP00000425006", "ENSEMBL:ENSP00000425006.1", "ENSEMBL:ENSP00000516352", "ENSEMBL:ENSP00000516352.1", "ENSEMBL:ENSP00000516354", "ENSEMBL:ENSP00000516354.1"], "information_content": 100.0}
{"id": "UniProtKB:Q4G0J3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "La-related protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4G0J3-1", "PR:Q4G0J3-1", "ENSEMBL:ENSP00000344950", "ENSEMBL:ENSP00000344950.5", "ENSEMBL:ENSP00000421541", "ENSEMBL:ENSP00000421541.2", "ENSEMBL:ENSP00000422626", "ENSEMBL:ENSP00000422626.2", "ENSEMBL:ENSP00000499190", "ENSEMBL:ENSP00000499190.1", "ENSEMBL:ENSP00000511572", "ENSEMBL:ENSP00000511572.1"], "information_content": 100.0}
{"id": "NCBIGene:8821", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INPP4B", "equivalent_identifiers": ["NCBIGene:8821", "ENSEMBL:ENSG00000109452", "HGNC:6075", "OMIM:607494", "UMLS:C1416443", "UniProtKB:E7EQN9", "ENSEMBL:ENSP00000422793", "ENSEMBL:ENSP00000422793.1", "UniProtKB:E9PCZ3", "ENSEMBL:ENSP00000426207", "ENSEMBL:ENSP00000426207.2", "UniProtKB:O15327", "PR:O15327", "UMLS:C2002106"]}
{"id": "UniProtKB:Q86XX4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "extracellular matrix organizing protein FRAS1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86XX4-2", "PR:Q86XX4-2", "ENSEMBL:ENSP00000422834", "ENSEMBL:ENSP00000422834.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVA2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "septin-11 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVA2-2", "PR:Q9NVA2-2", "ENSEMBL:ENSP00000422896", "ENSEMBL:ENSP00000422896.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6P1K8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T2H2L_HUMAN General transcription factor IIH subunit 2-like protein (sprot)", "equivalent_identifiers": ["UniProtKB:Q6P1K8", "PR:Q6P1K8", "ENSEMBL:ENSP00000370105", "ENSEMBL:ENSP00000370105.3", "ENSEMBL:ENSP00000422907", "ENSEMBL:ENSP00000422907.1", "ENSEMBL:ENSP00000480471", "ENSEMBL:ENSP00000480471.1", "ENSEMBL:ENSP00000483148", "ENSEMBL:ENSP00000483148.1"], "information_content": 95.4}
{"id": "NCBIGene:100526772", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STIMATE-MUSTN1", "equivalent_identifiers": ["NCBIGene:100526772", "ENSEMBL:ENSG00000248592", "HGNC:38834", "UMLS:C4762075", "UniProtKB:A8MSY1", "ENSEMBL:ENSP00000422941", "ENSEMBL:ENSP00000422941.1"]}
{"id": "UniProtKB:Q9BYJ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM34 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYJ4-1", "PR:Q9BYJ4-1", "ENSEMBL:ENSP00000402595", "ENSEMBL:ENSP00000402595.2", "ENSEMBL:ENSP00000422947", "ENSEMBL:ENSP00000422947.1"], "information_content": 100.0}
{"id": "MONDO:0003290", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "simple partial epilepsy", "equivalent_identifiers": ["MONDO:0003290", "DOID:5129", "UMLS:C0154712", "ICD9:345.51"], "information_content": 100.0}
{"id": "UniProtKB:Q56VL3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "OCIA domain-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q56VL3-1", "PR:Q56VL3-1", "ENSEMBL:ENSP00000423014", "ENSEMBL:ENSP00000423014.1"], "information_content": 100.0}
{"id": "UniProtKB:A6NCC3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "golgin subfamily A member 8O isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NCC3-2", "PR:A6NCC3-2", "ENSEMBL:ENSP00000423159", "ENSEMBL:ENSP00000423159.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5Z0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5Z0-2", "PR:Q8N5Z0-2", "ENSEMBL:ENSP00000423190", "ENSEMBL:ENSP00000423190.1"], "information_content": 100.0}
{"id": "UniProtKB:Q49A17-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polypeptide N-acetylgalactosaminyltransferase-like 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q49A17-1", "PR:Q49A17-1", "ENSEMBL:ENSP00000423313", "ENSEMBL:ENSP00000423313.1"], "information_content": 100.0}
{"id": "NCBIGene:158880", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP51", "equivalent_identifiers": ["NCBIGene:158880", "ENSEMBL:ENSG00000247746", "HGNC:23086", "UMLS:C1427904", "UniProtKB:Q70EK9", "PR:Q70EK9", "ENSEMBL:ENSP00000423333", "ENSEMBL:ENSP00000423333.2", "UMLS:C3711833", "MESH:C579193"], "information_content": 92.8}
{"id": "UniProtKB:Q96KG7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multiple epidermal growth factor-like domains protein 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96KG7-1", "PR:Q96KG7-1", "ENSEMBL:ENSP00000274473", "ENSEMBL:ENSP00000274473.6", "ENSEMBL:ENSP00000423354", "ENSEMBL:ENSP00000423354.2"], "information_content": 100.0}
{"id": "NCBIGene:83844", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP26", "equivalent_identifiers": ["NCBIGene:83844", "ENSEMBL:ENSG00000134588", "HGNC:13485", "OMIM:300309", "UMLS:C1422015", "UniProtKB:Q9BXU7", "PR:Q9BXU7", "ENSEMBL:ENSP00000359869", "ENSEMBL:ENSP00000359869.1", "ENSEMBL:ENSP00000423390", "ENSEMBL:ENSP00000423390.1", "UMLS:C1570732", "MESH:C501866"], "information_content": 100.0}
{"id": "NCBIGene:442247", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RFPL4B", "equivalent_identifiers": ["NCBIGene:442247", "ENSEMBL:ENSG00000251258", "HGNC:33264", "UMLS:C2239882", "UniProtKB:Q6ZWI9", "PR:Q6ZWI9", "ENSEMBL:ENSP00000423391", "ENSEMBL:ENSP00000423391.1"], "information_content": 100.0}
{"id": "NCBIGene:64979", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL36", "equivalent_identifiers": ["NCBIGene:64979", "ENSEMBL:ENSG00000171421", "HGNC:14490", "OMIM:611842", "UMLS:C1422696", "UniProtKB:Q9P0J6", "PR:Q9P0J6", "ENSEMBL:ENSP00000372093", "ENSEMBL:ENSP00000372093.6", "ENSEMBL:ENSP00000423152", "ENSEMBL:ENSP00000423152.1", "ENSEMBL:ENSP00000423399", "ENSEMBL:ENSP00000423399.1", "ENSEMBL:ENSP00000427152", "ENSEMBL:ENSP00000427152.1"], "information_content": 95.4}
{"id": "ENSEMBL:ENSP00000423463", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000423463", "equivalent_identifiers": ["ENSEMBL:ENSP00000423463"]}
{"id": "NCBIGene:83894", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTC29", "equivalent_identifiers": ["NCBIGene:83894", "ENSEMBL:ENSG00000137473", "HGNC:29936", "OMIM:618735", "UMLS:C1823533", "UniProtKB:A0A140VK62", "UniProtKB:E7EQ14", "ENSEMBL:ENSP00000425778", "ENSEMBL:ENSP00000425778.1", "UniProtKB:G5E9Z5", "ENSEMBL:ENSP00000423505", "ENSEMBL:ENSP00000423505.1", "UniProtKB:Q8NA56", "PR:Q8NA56", "UniProtKB:Q8TC83"]}
{"id": "NCBIGene:22987", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SV2C", "equivalent_identifiers": ["NCBIGene:22987", "ENSEMBL:ENSG00000122012", "HGNC:30670", "OMIM:610291", "UMLS:C1428988", "UniProtKB:B3KT41", "ENSEMBL:ENSP00000316983", "ENSEMBL:ENSP00000316983.7", "UMLS:C3711414", "MESH:C585899", "UniProtKB:Q496J9", "PR:Q496J9", "ENSEMBL:ENSP00000423541", "ENSEMBL:ENSP00000423541.2"], "information_content": 95.4}
{"id": "UniProtKB:O75367-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "core histone macro-H2A.1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75367-1", "PR:O75367-1", "ENSEMBL:ENSP00000423563", "ENSEMBL:ENSP00000423563.1", "ENSEMBL:ENSP00000424971", "ENSEMBL:ENSP00000424971.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UN19-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UN19-1", "PR:Q9UN19-1", "ENSEMBL:ENSP00000423602", "ENSEMBL:ENSP00000423602.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/LRR-repeat protein 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJT9-1", "PR:Q9UJT9-1", "ENSEMBL:ENSP00000423630", "ENSEMBL:ENSP00000423630.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TF17-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH3 domain and tetratricopeptide repeat-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF17-1", "PR:Q8TF17-1", "ENSEMBL:ENSP00000423660", "ENSEMBL:ENSP00000423660.1"], "information_content": 100.0}
{"id": "UniProtKB:Q07002-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 18 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q07002-3", "PR:Q07002-3", "ENSEMBL:ENSP00000423665", "ENSEMBL:ENSP00000423665.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P0J0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0J0-1", "PR:Q9P0J0-1", "ENSEMBL:ENSP00000423673", "ENSEMBL:ENSP00000423673.1"], "information_content": 100.0}
{"id": "UniProtKB:P46926-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glucosamine-6-phosphate deaminase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P46926-1", "PR:P46926-1", "ENSEMBL:ENSP00000311876", "ENSEMBL:ENSP00000311876.6", "ENSEMBL:ENSP00000423485", "ENSEMBL:ENSP00000423485.1", "ENSEMBL:ENSP00000423674", "ENSEMBL:ENSP00000423674.1", "ENSEMBL:ENSP00000424275", "ENSEMBL:ENSP00000424275.1"], "information_content": 100.0}
{"id": "NCBIGene:493869", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPX8", "equivalent_identifiers": ["NCBIGene:493869", "ENSEMBL:ENSG00000164294", "HGNC:33100", "OMIM:617172", "UMLS:C2681554", "UniProtKB:B4DPY0", "UMLS:C3181667", "MESH:C558642", "UniProtKB:E7ETY7", "ENSEMBL:ENSP00000427466", "ENSEMBL:ENSP00000427466.1", "UniProtKB:J3KNB5", "ENSEMBL:ENSP00000296734", "ENSEMBL:ENSP00000296734.6", "UniProtKB:Q8TED1", "PR:Q8TED1", "ENSEMBL:ENSP00000423822", "ENSEMBL:ENSP00000423822.1"], "information_content": 95.4}
{"id": "NCBIGene:3225", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXC9", "equivalent_identifiers": ["NCBIGene:3225", "ENSEMBL:ENSG00000180806", "HGNC:5130", "OMIM:142971", "UMLS:C1415681", "UniProtKB:P31274", "PR:P31274", "ENSEMBL:ENSP00000302836", "ENSEMBL:ENSP00000302836.4", "ENSEMBL:ENSP00000423861", "ENSEMBL:ENSP00000423861.1", "UMLS:C2000091", "MESH:C522807"], "information_content": 95.4}
{"id": "UniProtKB:Q96PQ7-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 5 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q96PQ7-6", "PR:Q96PQ7-6", "ENSEMBL:ENSP00000261425", "ENSEMBL:ENSP00000261425.3", "ENSEMBL:ENSP00000423897", "ENSEMBL:ENSP00000423897.2"], "information_content": 100.0}
{"id": "NCBIGene:4889", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPY5R", "equivalent_identifiers": ["NCBIGene:4889", "ENSEMBL:ENSG00000164129", "HGNC:7958", "OMIM:602001", "UMLS:C1417818", "UniProtKB:Q15761", "PR:Q15761", "ENSEMBL:ENSP00000339377", "ENSEMBL:ENSP00000339377.3", "ENSEMBL:ENSP00000423474", "ENSEMBL:ENSP00000423474.1", "ENSEMBL:ENSP00000423917", "ENSEMBL:ENSP00000423917.1", "UMLS:C3642156"], "information_content": 100.0}
{"id": "UniProtKB:Q9BTF0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "THUMP domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTF0-1", "PR:Q9BTF0-1", "ENSEMBL:ENSP00000423933", "ENSEMBL:ENSP00000423933.1"], "information_content": 100.0}
{"id": "UniProtKB:Q64ET8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FRG2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q64ET8-2", "PR:Q64ET8-2", "ENSEMBL:ENSP00000424015", "ENSEMBL:ENSP00000424015.1", "ENSEMBL:ENSP00000485877", "ENSEMBL:ENSP00000485877.1", "ENSEMBL:ENSP00000494204", "ENSEMBL:ENSP00000494204.2"], "information_content": 100.0}
{"id": "NCBIGene:259296", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R50", "equivalent_identifiers": ["NCBIGene:259296", "ENSEMBL:ENSG00000212126", "HGNC:18882", "OMIM:609627", "UMLS:C1425852", "UniProtKB:P59544", "PR:P59544", "ENSEMBL:ENSP00000424040", "ENSEMBL:ENSP00000424040.1", "ENSEMBL:ENSP00000458551", "ENSEMBL:ENSP00000458551.1", "ENSEMBL:ENSP00000479785", "ENSEMBL:ENSP00000479785.1", "UMLS:C4706192", "MESH:C000730100"], "information_content": 100.0}
{"id": "UniProtKB:D6RBM5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U17LN_HUMAN Ubiquitin carboxyl-terminal hydrolase 17-like protein 23 (Fragment) (sprot)", "equivalent_identifiers": ["UniProtKB:D6RBM5", "ENSEMBL:ENSP00000424077", "ENSEMBL:ENSP00000424077.2"]}
{"id": "NCBIGene:79993", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELOVL7", "equivalent_identifiers": ["NCBIGene:79993", "ENSEMBL:ENSG00000164181", "HGNC:26292", "OMIM:614451", "UMLS:C1539356", "UniProtKB:A1L3X0", "PR:A1L3X0", "ENSEMBL:ENSP00000402634", "ENSEMBL:ENSP00000402634.1", "ENSEMBL:ENSP00000424123", "ENSEMBL:ENSP00000424123.1", "UMLS:C2713419", "MESH:C000630957", "UniProtKB:D6RHD0", "ENSEMBL:ENSP00000421043", "ENSEMBL:ENSP00000421043.1"], "information_content": 95.4}
{"id": "UniProtKB:Q6DN14-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multiple C2 and transmembrane domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6DN14-1", "PR:Q6DN14-1", "ENSEMBL:ENSP00000424126", "ENSEMBL:ENSP00000424126.1"], "information_content": 100.0}
{"id": "UniProtKB:O95925-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000424176", "equivalent_identifiers": ["UniProtKB:O95925-3", "ENSEMBL:ENSP00000424176", "ENSEMBL:ENSP00000424176.1"]}
{"id": "MONDO:0006046", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian serous cystadenocarcinoma", "equivalent_identifiers": ["MONDO:0006046", "DOID:5746", "EFO:1000043", "UMLS:C0279663", "MEDDRA:10054913", "NCIT:C7978", "medgen:83541"], "information_content": 89.4}
{"id": "UniProtKB:Q9UHA4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ragulator complex protein LAMTOR3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHA4-1", "PR:Q9UHA4-1", "ENSEMBL:ENSP00000424183", "ENSEMBL:ENSP00000424183.1"], "information_content": 100.0}
{"id": "UniProtKB:Q53HV7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "single-strand selective monofunctional uracil DNA glycosylase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53HV7-1", "PR:Q53HV7-1", "ENSEMBL:ENSP00000338606", "ENSEMBL:ENSP00000338606.3", "ENSEMBL:ENSP00000384828", "ENSEMBL:ENSP00000384828.2", "ENSEMBL:ENSP00000424191", "ENSEMBL:ENSP00000424191.1", "ENSEMBL:ENSP00000507590", "ENSEMBL:ENSP00000507590.1"], "information_content": 100.0}
{"id": "UniProtKB:O95198-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O95198-2", "PR:O95198-2", "ENSEMBL:ENSP00000424198", "ENSEMBL:ENSP00000424198.1"], "information_content": 100.0}
{"id": "NCBIGene:55714", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TENM3", "equivalent_identifiers": ["NCBIGene:55714", "ENSEMBL:ENSG00000218336", "HGNC:29944", "OMIM:610083", "UMLS:C1538511", "UniProtKB:A0A140VJW8", "UMLS:C3501637", "MESH:C575832", "UniProtKB:Q9P273", "PR:Q9P273", "ENSEMBL:ENSP00000424226", "ENSEMBL:ENSP00000424226.1"], "information_content": 92.8}
{"id": "UniProtKB:Q9NZH5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "securin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZH5-2", "PR:Q9NZH5-2", "ENSEMBL:ENSP00000424261", "ENSEMBL:ENSP00000424261.1"], "information_content": 100.0}
{"id": "NCBIGene:10884", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPS30", "equivalent_identifiers": ["NCBIGene:10884", "ENSEMBL:ENSG00000112996", "HGNC:8769", "OMIM:611991", "UMLS:C1418410", "UniProtKB:Q9NP92", "PR:Q9NP92", "ENSEMBL:ENSP00000424328", "ENSEMBL:ENSP00000424328.1", "UMLS:C5196858", "MESH:C000630261"], "information_content": 95.4}
{"id": "UniProtKB:Q9BU23-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lipase maturation factor 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BU23-1", "PR:Q9BU23-1", "ENSEMBL:ENSP00000424381", "ENSEMBL:ENSP00000424381.1"], "information_content": 100.0}
{"id": "UniProtKB:O43660-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleiotropic regulator 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43660-1", "PR:O43660-1", "ENSEMBL:ENSP00000424417", "ENSEMBL:ENSP00000424417.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZD0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sterile alpha motif domain-containing protein 14 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZD0-2", "PR:Q8IZD0-2", "ENSEMBL:ENSP00000424474", "ENSEMBL:ENSP00000424474.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UL40-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 346 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UL40-2", "PR:Q9UL40-2", "ENSEMBL:ENSP00000424495", "ENSEMBL:ENSP00000424495.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TEC5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase SH3RF2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEC5-1", "PR:Q8TEC5-1", "ENSEMBL:ENSP00000352028", "ENSEMBL:ENSP00000352028.4", "ENSEMBL:ENSP00000424497", "ENSEMBL:ENSP00000424497.1"], "information_content": 100.0}
{"id": "NCBIGene:3346", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTN1", "equivalent_identifiers": ["NCBIGene:3346", "ENSEMBL:ENSG00000126550", "HGNC:5283", "OMIM:142701", "UMLS:C1415800", "UniProtKB:P15515", "PR:P15515", "ENSEMBL:ENSP00000246896", "ENSEMBL:ENSP00000246896.3", "ENSEMBL:ENSP00000424501", "ENSEMBL:ENSP00000424501.1", "ENSEMBL:ENSP00000489198", "ENSEMBL:ENSP00000489198.1", "ENSEMBL:ENSP00000489349", "ENSEMBL:ENSP00000489349.1", "UMLS:C0121867", "MESH:C068074"], "information_content": 95.4}
{"id": "UniProtKB:Q13454-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13454-1", "PR:Q13454-1", "ENSEMBL:ENSP00000424544", "ENSEMBL:ENSP00000424544.1"], "information_content": 100.0}
{"id": "NCBIGene:54825", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDHR2", "equivalent_identifiers": ["NCBIGene:54825", "ENSEMBL:ENSG00000074276", "HGNC:18231", "OMIM:619713", "UMLS:C2239803", "UniProtKB:Q9BYE9", "PR:Q9BYE9", "ENSEMBL:ENSP00000261944", "ENSEMBL:ENSP00000261944.5", "ENSEMBL:ENSP00000424565", "ENSEMBL:ENSP00000424565.1", "UMLS:C1144387", "MESH:C464586"], "information_content": 87.2}
{"id": "UniProtKB:Q96G79-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-sugar transporter protein SLC35A4 (human)", "equivalent_identifiers": ["UniProtKB:Q96G79-1", "PR:Q96G79-1", "ENSEMBL:ENSP00000327133", "ENSEMBL:ENSP00000327133.3", "ENSEMBL:ENSP00000424566", "ENSEMBL:ENSP00000424566.1", "ENSEMBL:ENSP00000479255", "ENSEMBL:ENSP00000479255.1"], "information_content": 100.0}
{"id": "MONDO:0054559", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital disorder of glycosylation, type IIq", "equivalent_identifiers": ["MONDO:0054559", "DOID:0070269", "OMIM:617395", "orphanet:435934", "UMLS:C4479353", "SNOMEDCT:1197753005", "medgen:1390458"], "information_content": 100.0}
{"id": "UniProtKB:A0A9H4AZX0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A9H4AZX0_HUMAN Fibrillin 2 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A9H4AZX0", "ENSEMBL:ENSP00000424571", "ENSEMBL:ENSP00000424571.2"]}
{"id": "MONDO:0008016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hecht syndrome", "equivalent_identifiers": ["MONDO:0008016", "DOID:0111603", "OMIM:158300", "orphanet:3377", "UMLS:C0265226", "MESH:C535857", "SNOMEDCT:8757006", "medgen:78540"], "information_content": 100.0}
{"id": "MONDO:0010915", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 4A", "equivalent_identifiers": ["MONDO:0010915", "DOID:0110573", "OMIM:600652", "UMLS:C1833503", "MESH:C563460", "medgen:322209"], "information_content": 100.0}
{"id": "NCBIGene:221823", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRPS1L1", "equivalent_identifiers": ["NCBIGene:221823", "ENSEMBL:ENSG00000229937", "HGNC:9463", "OMIM:611566", "UMLS:C1418955", "UniProtKB:P21108", "PR:P21108", "ENSEMBL:ENSP00000424595", "ENSEMBL:ENSP00000424595.3"], "information_content": 95.4}
{"id": "NCBIGene:134860", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAAR9", "equivalent_identifiers": ["NCBIGene:134860", "ENSEMBL:ENSG00000237110", "HGNC:20977", "OMIM:608282", "UMLS:C1539916", "UniProtKB:Q96RI9", "PR:Q96RI9", "ENSEMBL:ENSP00000424607", "ENSEMBL:ENSP00000424607.2"], "information_content": 95.4}
{"id": "UniProtKB:P08319-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "all-trans-retinol dehydrogenase [NAD(+)] ADH4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P08319-2", "PR:P08319-2", "ENSEMBL:ENSP00000424630", "ENSEMBL:ENSP00000424630.1", "ENSEMBL:ENSP00000425416", "ENSEMBL:ENSP00000425416.1"], "information_content": 100.0}
{"id": "NCBIGene:51138", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COPS4", "equivalent_identifiers": ["NCBIGene:51138", "ENSEMBL:ENSG00000138663", "HGNC:16702", "OMIM:616008", "UMLS:C1424491", "UniProtKB:A0A0S2Z5H7", "UMLS:C2975972", "MESH:C555813", "UniProtKB:B3KM48", "UniProtKB:D6RAX7", "ENSEMBL:ENSP00000424655", "ENSEMBL:ENSP00000424655.1", "UniProtKB:Q9BT78", "PR:Q9BT78"]}
{"id": "NCBIGene:153339", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM167A", "equivalent_identifiers": ["NCBIGene:153339", "ENSEMBL:ENSG00000174695", "HGNC:28330", "OMIM:620000", "UMLS:C1823432", "UniProtKB:Q8TBQ9", "PR:Q8TBQ9", "ENSEMBL:ENSP00000424707", "ENSEMBL:ENSP00000424707.1"], "information_content": 95.4}
{"id": "NCBIGene:645104", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLRN2", "equivalent_identifiers": ["NCBIGene:645104", "ENSEMBL:ENSG00000249581", "HGNC:33939", "OMIM:618988", "UMLS:C2239304", "UniProtKB:A0PK11", "PR:A0PK11", "ENSEMBL:ENSP00000424711", "ENSEMBL:ENSP00000424711.2", "UMLS:C5544136", "MESH:C000717310"], "information_content": 100.0}
{"id": "MONDO:0002919", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "posterior cranial fossa meningioma", "equivalent_identifiers": ["MONDO:0002919", "DOID:4211", "UMLS:C1565950", "NCIT:C6775", "medgen:290609"], "information_content": 88.2}
{"id": "MONDO:0000276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Powassan encephalitis", "equivalent_identifiers": ["MONDO:0000276", "DOID:0050179", "UMLS:C0032858", "UMLS:C1563215", "SNOMEDCT:416543004", "SNOMEDCT:416707008", "medgen:18601", "icd11.foundation:1674038791"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZM6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polycystin-2-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZM6-1", "PR:Q9NZM6-1", "ENSEMBL:ENSP00000424725", "ENSEMBL:ENSP00000424725.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86YA3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5'-3' DNA helicase ZGRF1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YA3-1", "PR:Q86YA3-1", "ENSEMBL:ENSP00000390505", "ENSEMBL:ENSP00000390505.3", "ENSEMBL:ENSP00000424737", "ENSEMBL:ENSP00000424737.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96PY6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Nek1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96PY6-3", "PR:Q96PY6-3", "ENSEMBL:ENSP00000424757", "ENSEMBL:ENSP00000424757.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2J4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "angiomotin-like protein 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2J4-4", "PR:Q9Y2J4-4", "ENSEMBL:ENSP00000424765", "ENSEMBL:ENSP00000424765.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5HYI7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metaxin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5HYI7-1", "PR:Q5HYI7-1", "ENSEMBL:ENSP00000424798", "ENSEMBL:ENSP00000424798.2"], "information_content": 100.0}
{"id": "UniProtKB:P46934-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase NEDD4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P46934-1", "PR:P46934-1", "ENSEMBL:ENSP00000424827", "ENSEMBL:ENSP00000424827.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQI0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable ATP-dependent RNA helicase DDX4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQI0-1", "PR:Q9NQI0-1", "ENSEMBL:ENSP00000424838", "ENSEMBL:ENSP00000424838.1"], "information_content": 100.0}
{"id": "UniProtKB:P78314-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH3 domain-binding protein 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P78314-4", "PR:P78314-4", "ENSEMBL:ENSP00000424846", "ENSEMBL:ENSP00000424846.2"], "information_content": 100.0}
{"id": "UniProtKB:P09132-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal recognition particle 19 kDa protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P09132-1", "PR:P09132-1", "ENSEMBL:ENSP00000424870", "ENSEMBL:ENSP00000424870.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96LI5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCR4-NOT transcription complex subunit 6-like isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LI5-1", "PR:Q96LI5-1", "ENSEMBL:ENSP00000424896", "ENSEMBL:ENSP00000424896.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99729-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein A/B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99729-2", "PR:Q99729-2", "ENSEMBL:ENSP00000351108", "ENSEMBL:ENSP00000351108.3", "ENSEMBL:ENSP00000425031", "ENSEMBL:ENSP00000425031.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBA8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA-uridine aminocarboxypropyltransferase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBA8-1", "PR:Q8NBA8-1", "ENSEMBL:ENSP00000425048", "ENSEMBL:ENSP00000425048.1"], "information_content": 100.0}
{"id": "UniProtKB:O94817-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-like protein ATG12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94817-1", "PR:O94817-1", "ENSEMBL:ENSP00000425107", "ENSEMBL:ENSP00000425107.1"], "information_content": 100.0}
{"id": "UniProtKB:Q2YD98-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UV-stimulated scaffold protein A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2YD98-1", "PR:Q2YD98-1", "ENSEMBL:ENSP00000374501", "ENSEMBL:ENSP00000374501.4", "ENSEMBL:ENSP00000421741", "ENSEMBL:ENSP00000421741.1", "ENSEMBL:ENSP00000425130", "ENSEMBL:ENSP00000425130.1", "ENSEMBL:ENSP00000503948", "ENSEMBL:ENSP00000503948.1", "ENSEMBL:ENSP00000504544", "ENSEMBL:ENSP00000504544.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92540-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nonsense-mediated mRNA decay factor SMG7 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q92540-4", "PR:Q92540-4", "ENSEMBL:ENSP00000425133", "ENSEMBL:ENSP00000425133.1"], "information_content": 100.0}
{"id": "NCBIGene:285521", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX18", "equivalent_identifiers": ["NCBIGene:285521", "ENSEMBL:ENSG00000163626", "HGNC:26801", "OMIM:610428", "UMLS:C1824782", "UniProtKB:B7ZL88", "ENSEMBL:ENSP00000425261", "ENSEMBL:ENSP00000425261.3", "UMLS:C1663587", "MESH:C506210", "UniProtKB:Q8N8Q8", "PR:Q8N8Q8"]}
{"id": "MONDO:0013201", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Waardenburg syndrome type 4B", "equivalent_identifiers": ["MONDO:0013201", "DOID:0110954", "OMIM:613265", "UMLS:C2750457", "MESH:C567680", "medgen:412961"], "information_content": 100.0}
{"id": "MONDO:0000229", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Indian tick typhus", "equivalent_identifiers": ["MONDO:0000229", "DOID:0050042", "UMLS:C0343768", "medgen:1843392"], "information_content": 100.0}
{"id": "UniProtKB:Q86VE3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermidine/spermine N(1)-acetyltransferase-like protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86VE3-2", "PR:Q86VE3-2", "ENSEMBL:ENSP00000425421", "ENSEMBL:ENSP00000425421.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TC20-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cancer-associated gene 1 protein isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q8TC20-5", "PR:Q8TC20-5", "ENSEMBL:ENSP00000425493", "ENSEMBL:ENSP00000425493.1"], "information_content": 100.0}
{"id": "UniProtKB:P0DTE4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucuronosyltransferase 2A1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P0DTE4-4", "PR:P0DTE4-4", "ENSEMBL:ENSP00000425497", "ENSEMBL:ENSP00000425497.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WX93-9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palladin isoform h9 (human)", "equivalent_identifiers": ["UniProtKB:Q8WX93-9", "PR:Q8WX93-9", "ENSEMBL:ENSP00000425556", "ENSEMBL:ENSP00000425556.1"], "information_content": 100.0}
{"id": "UniProtKB:P06730-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 4E isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P06730-2", "PR:P06730-2", "ENSEMBL:ENSP00000425561", "ENSEMBL:ENSP00000425561.1"], "information_content": 100.0}
{"id": "NCBIGene:11336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXOC3", "equivalent_identifiers": ["NCBIGene:11336", "ENSEMBL:ENSG00000180104", "HGNC:30378", "OMIM:608186", "UMLS:C1825075", "UniProtKB:O60645", "PR:O60645", "ENSEMBL:ENSP00000323377", "ENSEMBL:ENSP00000323377.5", "ENSEMBL:ENSP00000425587", "ENSEMBL:ENSP00000425587.1", "UMLS:C1504746", "MESH:C490685"], "information_content": 90.9}
{"id": "NCBIGene:22998", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIMCH1", "equivalent_identifiers": ["NCBIGene:22998", "ENSEMBL:ENSG00000064042", "HGNC:29191", "OMIM:617750", "UMLS:C2239652", "UniProtKB:B7Z2J4", "UMLS:C4507314", "MESH:C000619716", "UniProtKB:B7Z656", "UniProtKB:D6RD46", "ENSEMBL:ENSP00000427045", "ENSEMBL:ENSP00000427045.1", "UniProtKB:E9PDJ9", "ENSEMBL:ENSP00000422864", "ENSEMBL:ENSP00000422864.1", "UniProtKB:G5EA03", "ENSEMBL:ENSP00000425631", "ENSEMBL:ENSP00000425631.1", "UniProtKB:Q9UPQ0", "PR:Q9UPQ0"]}
{"id": "UniProtKB:P12081-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histidine--tRNA ligase, cytoplasmic isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P12081-1", "PR:P12081-1", "ENSEMBL:ENSP00000425634", "ENSEMBL:ENSP00000425634.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULJ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 50 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULJ7-1", "PR:Q9ULJ7-1", "ENSEMBL:ENSP00000425658", "ENSEMBL:ENSP00000425658.1"], "information_content": 100.0}
{"id": "NCBIGene:1350", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX7C", "equivalent_identifiers": ["NCBIGene:1350", "ENSEMBL:ENSG00000127184", "HGNC:2292", "OMIM:603774", "UMLS:C1413659", "UniProtKB:P15954", "PR:P15954", "ENSEMBL:ENSP00000247655", "ENSEMBL:ENSP00000247655.3", "ENSEMBL:ENSP00000425759", "ENSEMBL:ENSP00000425759.1", "UMLS:C0538100", "MESH:C105520"], "information_content": 90.9}
{"id": "UniProtKB:Q6V702-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 299 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6V702-1", "PR:Q6V702-1", "ENSEMBL:ENSP00000425786", "ENSEMBL:ENSP00000425786.1"], "information_content": 100.0}
{"id": "MONDO:0014482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, autosomal dominant 29", "equivalent_identifiers": ["MONDO:0014482", "DOID:0070059", "OMIM:616078", "UMLS:C4015141", "medgen:863578"], "information_content": 100.0}
{"id": "UniProtKB:O95394-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphoacetylglucosamine mutase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O95394-4", "PR:O95394-4", "ENSEMBL:ENSP00000424865", "ENSEMBL:ENSP00000424865.2", "ENSEMBL:ENSP00000425809", "ENSEMBL:ENSP00000425809.1"], "information_content": 100.0}
{"id": "NCBIGene:817", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAMK2D", "equivalent_identifiers": ["NCBIGene:817", "ENSEMBL:ENSG00000145349", "HGNC:1462", "OMIM:607708", "UMLS:C1413101", "UniProtKB:A0A8V8TN60", "ENSEMBL:ENSP00000514339", "ENSEMBL:ENSP00000514339.1", "UMLS:C1869373", "MESH:C517660", "UniProtKB:A0A8V8TN65", "ENSEMBL:ENSP00000514344", "ENSEMBL:ENSP00000514344.1", "UniProtKB:A0A8V8TN88", "ENSEMBL:ENSP00000514375", "ENSEMBL:ENSP00000514375.1", "UniProtKB:A0A8V8TNA1", "ENSEMBL:ENSP00000514340", "ENSEMBL:ENSP00000514340.1", "UniProtKB:A0A8V8TNA7", "ENSEMBL:ENSP00000514345", "ENSEMBL:ENSP00000514345.1", "UniProtKB:A0A8V8TPJ8", "ENSEMBL:ENSP00000514341", "ENSEMBL:ENSP00000514341.1", "UniProtKB:A0A8V8TPY4", "ENSEMBL:ENSP00000514338", "ENSEMBL:ENSP00000514338.1", "UniProtKB:A0A994J516", "ENSEMBL:ENSP00000516209", "ENSEMBL:ENSP00000516209.1", "UniProtKB:A0A994J5B0", "ENSEMBL:ENSP00000516207", "ENSEMBL:ENSP00000516207.1", "UniProtKB:D6R938", "ENSEMBL:ENSP00000423677", "ENSEMBL:ENSP00000423677.1", "ENSEMBL:ENSP00000514343", "ENSEMBL:ENSP00000514343.1", "UniProtKB:E9PBG7", "ENSEMBL:ENSP00000424245", "ENSEMBL:ENSP00000424245.1", "UniProtKB:E9PF82", "ENSEMBL:ENSP00000425824", "ENSEMBL:ENSP00000425824.1", "UniProtKB:Q13557", "PR:Q13557"]}
{"id": "UniProtKB:Q9ULK6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RING finger protein 150 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULK6-1", "PR:Q9ULK6-1", "ENSEMBL:ENSP00000425840", "ENSEMBL:ENSP00000425840.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96FH0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BLOC-1-related complex subunit 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FH0-1", "PR:Q96FH0-1", "ENSEMBL:ENSP00000425864", "ENSEMBL:ENSP00000425864.1", "ENSEMBL:ENSP00000467744", "ENSEMBL:ENSP00000467744.1"], "information_content": 100.0}
{"id": "NCBIGene:6414", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SELENOP", "equivalent_identifiers": ["NCBIGene:6414", "ENSEMBL:ENSG00000250722", "HGNC:10751", "OMIM:601484", "UMLS:C1419968", "UniProtKB:P49908", "PR:P49908", "ENSEMBL:ENSP00000420939", "ENSEMBL:ENSP00000420939.1", "ENSEMBL:ENSP00000425915", "ENSEMBL:ENSP00000425915.1", "ENSEMBL:ENSP00000427671", "ENSEMBL:ENSP00000427671.1", "UMLS:C3853561", "UMLS:C4508392", "MESH:C000621459"], "information_content": 84.2}
{"id": "NCBIGene:6691", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPINK2", "equivalent_identifiers": ["NCBIGene:6691", "ENSEMBL:ENSG00000128040", "HGNC:11245", "OMIM:605753", "UMLS:C1420360", "UniProtKB:A0A087WTA9", "ENSEMBL:ENSP00000477722", "ENSEMBL:ENSP00000477722.1", "UMLS:C0082939", "MESH:C066238", "UniProtKB:D6RC51", "ENSEMBL:ENSP00000423858", "ENSEMBL:ENSP00000423858.1", "UniProtKB:D6RI10", "ENSEMBL:ENSP00000425961", "ENSEMBL:ENSP00000425961.1", "UniProtKB:P20155", "PR:P20155", "ENSEMBL:ENSP00000248701", "ENSEMBL:ENSP00000248701.4"]}
{"id": "UniProtKB:Q9NRR4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribonuclease 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRR4-1", "PR:Q9NRR4-1", "ENSEMBL:ENSP00000339845", "ENSEMBL:ENSP00000339845.3", "ENSEMBL:ENSP00000425979", "ENSEMBL:ENSP00000425979.2"], "information_content": 100.0}
{"id": "NCBIGene:647087", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STMP1", "equivalent_identifiers": ["NCBIGene:647087", "ENSEMBL:ENSG00000243317", "HGNC:41909", "OMIM:618755", "UMLS:C3469749", "UniProtKB:E0CX11", "PR:E0CX11", "ENSEMBL:ENSP00000425996", "ENSEMBL:ENSP00000425996.1", "UMLS:C5433691", "MESH:C000709776"], "information_content": 95.4}
{"id": "UniProtKB:A6NFD8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hairy and enhancer of split-related protein HELT isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NFD8-3", "PR:A6NFD8-3", "ENSEMBL:ENSP00000426033", "ENSEMBL:ENSP00000426033.1"], "information_content": 100.0}
{"id": "MONDO:0007270", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cardiomyopathy, familial restrictive, 1", "equivalent_identifiers": ["MONDO:0007270", "DOID:0111425", "OMIM:115210", "UMLS:C1861861", "MESH:C566168", "medgen:396236"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCX4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "short transient receptor potential channel 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCX4-1", "PR:Q9HCX4-1", "ENSEMBL:ENSP00000426070", "ENSEMBL:ENSP00000426070.2"], "information_content": 100.0}
{"id": "NCBIGene:126", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADH1C", "equivalent_identifiers": ["NCBIGene:126", "ENSEMBL:ENSG00000248144", "HGNC:251", "OMIM:103730", "UMLS:C1412237", "UniProtKB:P00326", "PR:P00326", "ENSEMBL:ENSP00000426083", "ENSEMBL:ENSP00000426083.1", "UMLS:C1312457", "MESH:C420272"], "information_content": 95.4}
{"id": "UniProtKB:Q96AX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase MIB2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96AX9-1", "PR:Q96AX9-1", "ENSEMBL:ENSP00000348081", "ENSEMBL:ENSP00000348081.6", "ENSEMBL:ENSP00000426103", "ENSEMBL:ENSP00000426103.3", "ENSEMBL:ENSP00000426128", "ENSEMBL:ENSP00000426128.2"], "information_content": 100.0}
{"id": "UniProtKB:P52943-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine-rich protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P52943-2", "PR:P52943-2", "ENSEMBL:ENSP00000426119", "ENSEMBL:ENSP00000426119.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96HH9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GRAM domain-containing protein 2B isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96HH9-3", "PR:Q96HH9-3", "ENSEMBL:ENSP00000426120", "ENSEMBL:ENSP00000426120.1"], "information_content": 100.0}
{"id": "UniProtKB:O75943-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell cycle checkpoint protein RAD17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75943-1", "PR:O75943-1", "ENSEMBL:ENSP00000370151", "ENSEMBL:ENSP00000370151.3", "ENSEMBL:ENSP00000426191", "ENSEMBL:ENSP00000426191.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86VE9-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine incorporator 5 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q86VE9-4", "PR:Q86VE9-4", "ENSEMBL:ENSP00000426237", "ENSEMBL:ENSP00000426237.3"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3E2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-25 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3E2-1", "PR:Q9H3E2-1", "ENSEMBL:ENSP00000264694", "ENSEMBL:ENSP00000264694.8", "ENSEMBL:ENSP00000426255", "ENSEMBL:ENSP00000426255.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZX4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ropporin-1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZX4-1", "PR:Q9BZX4-1", "ENSEMBL:ENSP00000251776", "ENSEMBL:ENSP00000251776.4", "ENSEMBL:ENSP00000426271", "ENSEMBL:ENSP00000426271.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5VWP3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "muscular LMNA-interacting protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5VWP3-3", "PR:Q5VWP3-3", "ENSEMBL:ENSP00000426290", "ENSEMBL:ENSP00000426290.1"], "information_content": 100.0}
{"id": "MONDO:0010524", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked sideroblastic anemia with ataxia", "equivalent_identifiers": ["MONDO:0010524", "DOID:0050554", "OMIM:301310", "orphanet:2802", "UMLS:C1845028", "MESH:C536358", "SNOMEDCT:719816006", "medgen:335078"], "information_content": 100.0}
{"id": "NCBIGene:153396", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM161B", "equivalent_identifiers": ["NCBIGene:153396", "ENSEMBL:ENSG00000164180", "HGNC:28483", "OMIM:621178", "UMLS:C1823426", "UniProtKB:B7Z6T3", "ENSEMBL:ENSP00000421498", "ENSEMBL:ENSP00000421498.1", "UMLS:C5196692", "MESH:C000629885", "UniProtKB:B7Z6X1", "UniProtKB:E9PCX5", "ENSEMBL:ENSP00000426354", "ENSEMBL:ENSP00000426354.1", "UniProtKB:Q8NDZ6", "PR:Q8NDZ6"]}
{"id": "NCBIGene:345643", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MCIDAS", "equivalent_identifiers": ["NCBIGene:345643", "ENSEMBL:ENSG00000234602", "HGNC:40050", "OMIM:614086", "UMLS:C3463911", "UniProtKB:D6RGH6", "PR:D6RGH6", "ENSEMBL:ENSP00000426359", "ENSEMBL:ENSP00000426359.1", "UMLS:C3178722", "MESH:C560898"], "information_content": 100.0}
{"id": "NCBIGene:253461", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB38", "equivalent_identifiers": ["NCBIGene:253461", "ENSEMBL:ENSG00000177311", "HGNC:26636", "OMIM:612218", "UMLS:C1538156", "UniProtKB:Q8NAP3", "PR:Q8NAP3", "ENSEMBL:ENSP00000372635", "ENSEMBL:ENSP00000372635.5", "ENSEMBL:ENSP00000406955", "ENSEMBL:ENSP00000406955.2", "ENSEMBL:ENSP00000426387", "ENSEMBL:ENSP00000426387.1", "ENSEMBL:ENSP00000490041", "ENSEMBL:ENSP00000490041.1", "UMLS:C1701900", "MESH:C508975", "UniProtKB:Q9H6F0"], "information_content": 100.0}
{"id": "NCBIGene:28990", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASTE1", "equivalent_identifiers": ["NCBIGene:28990", "ENSEMBL:ENSG00000034533", "HGNC:25021", "OMIM:620693", "UMLS:C1825093", "UniProtKB:D6RG30", "ENSEMBL:ENSP00000426421", "ENSEMBL:ENSP00000426421.1", "UMLS:C4077462", "MESH:C000601355", "UniProtKB:Q2TB18", "PR:Q2TB18"]}
{"id": "UniProtKB:O00584-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribonuclease T2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00584-1", "PR:O00584-1", "ENSEMBL:ENSP00000422846", "ENSEMBL:ENSP00000422846.1", "ENSEMBL:ENSP00000426455", "ENSEMBL:ENSP00000426455.2"], "information_content": 100.0}
{"id": "UniProtKB:P78317-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78317-1", "PR:P78317-1", "ENSEMBL:ENSP00000315212", "ENSEMBL:ENSP00000315212.8", "ENSEMBL:ENSP00000424076", "ENSEMBL:ENSP00000424076.1", "ENSEMBL:ENSP00000426503", "ENSEMBL:ENSP00000426503.1"], "information_content": 100.0}
{"id": "UniProtKB:P52739-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 131 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P52739-1", "PR:P52739-1", "ENSEMBL:ENSP00000426504", "ENSEMBL:ENSP00000426504.1", "ENSEMBL:ENSP00000507111", "ENSEMBL:ENSP00000507111.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N7J2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "APC membrane recruitment protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N7J2-1", "PR:Q8N7J2-1", "ENSEMBL:ENSP00000426528", "ENSEMBL:ENSP00000426528.1"], "information_content": 100.0}
{"id": "NCBIGene:57528", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCTD16", "equivalent_identifiers": ["NCBIGene:57528", "ENSEMBL:ENSG00000183775", "HGNC:29244", "OMIM:613423", "UMLS:C1428818", "UniProtKB:A8K8W2", "UMLS:C5197545", "MESH:C000632844", "UniProtKB:Q68DU8", "PR:Q68DU8", "ENSEMBL:ENSP00000424151", "ENSEMBL:ENSP00000424151.1", "ENSEMBL:ENSP00000426548", "ENSEMBL:ENSP00000426548.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96KP6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TNFAIP3-interacting protein 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96KP6-3", "PR:Q96KP6-3", "ENSEMBL:ENSP00000426613", "ENSEMBL:ENSP00000426613.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96RT1-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "erbin isoform h8 (human)", "equivalent_identifiers": ["UniProtKB:Q96RT1-8", "PR:Q96RT1-8", "ENSEMBL:ENSP00000426632", "ENSEMBL:ENSP00000426632.1"], "information_content": 100.0}
{"id": "UniProtKB:Q16134-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16134-1", "PR:Q16134-1", "ENSEMBL:ENSP00000426638", "ENSEMBL:ENSP00000426638.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H1J5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Wnt-8a isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9H1J5-3", "PR:Q9H1J5-3", "ENSEMBL:ENSP00000426653", "ENSEMBL:ENSP00000426653.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UJX5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anaphase-promoting complex subunit 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJX5-3", "PR:Q9UJX5-3", "ENSEMBL:ENSP00000426654", "ENSEMBL:ENSP00000426654.1"], "information_content": 100.0}
{"id": "NCBIGene:653125", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOLGA8K", "equivalent_identifiers": ["NCBIGene:653125", "ENSEMBL:ENSG00000249931", "HGNC:38652", "UMLS:C3539387", "UniProtKB:D6RF30", "PR:D6RF30", "ENSEMBL:ENSP00000426691", "ENSEMBL:ENSP00000426691.2"], "information_content": 100.0}
{"id": "MONDO:0003007", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood kidney cell carcinoma", "equivalent_identifiers": ["MONDO:0003007", "DOID:4454", "UMLS:C1333001", "NCIT:C6568", "medgen:232070"], "information_content": 90.9}
{"id": "NCBIGene:2983", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GUCY1B1", "equivalent_identifiers": ["NCBIGene:2983", "ENSEMBL:ENSG00000061918", "HGNC:4687", "OMIM:139397", "UMLS:C1415362", "UniProtKB:B7Z685", "ENSEMBL:ENSP00000425065", "ENSEMBL:ENSP00000425065.1", "ENSEMBL:ENSP00000427226", "ENSEMBL:ENSP00000427226.1", "UniProtKB:B7Z6G8", "UniProtKB:B7Z9H9", "UniProtKB:D6RC99", "ENSEMBL:ENSP00000422313", "ENSEMBL:ENSP00000422313.1", "UniProtKB:E9PCN2", "ENSEMBL:ENSP00000426786", "ENSEMBL:ENSP00000426786.1", "UniProtKB:Q02153", "PR:Q02153", "UMLS:C1519420", "MESH:C000605664"]}
{"id": "UniProtKB:O43490-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prominin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43490-1", "PR:O43490-1", "ENSEMBL:ENSP00000415481", "ENSEMBL:ENSP00000415481.2", "ENSEMBL:ENSP00000426809", "ENSEMBL:ENSP00000426809.1"], "information_content": 100.0}
{"id": "NCBIGene:10399", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RACK1", "equivalent_identifiers": ["NCBIGene:10399", "ENSEMBL:ENSG00000204628", "HGNC:4399", "OMIM:176981", "UMLS:C1415151", "UniProtKB:E9KL35", "UMLS:C1447867", "MESH:C419368", "UniProtKB:P63244", "PR:P63244", "ENSEMBL:ENSP00000426909", "ENSEMBL:ENSP00000426909.1"], "information_content": 80.9}
{"id": "UniProtKB:D6RE68", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D6RE68_HUMAN Aryl hydrocarbon receptor repressor (trembl)", "equivalent_identifiers": ["UniProtKB:D6RE68", "ENSEMBL:ENSP00000426932", "ENSEMBL:ENSP00000426932.1"]}
{"id": "UniProtKB:Q92552-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ribosomal subunit protein mS27 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92552-2", "PR:Q92552-2", "ENSEMBL:ENSP00000426941", "ENSEMBL:ENSP00000426941.1"], "information_content": 100.0}
{"id": "UniProtKB:A6XGL0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "YjeF N-terminal domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6XGL0-1", "PR:A6XGL0-1", "ENSEMBL:ENSP00000426964", "ENSEMBL:ENSP00000426964.1"], "information_content": 100.0}
{"id": "NCBIGene:9575", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLOCK", "equivalent_identifiers": ["NCBIGene:9575", "ENSEMBL:ENSG00000134852", "HGNC:2082", "OMIM:601851", "UMLS:C1413503", "UniProtKB:O15516", "PR:O15516", "ENSEMBL:ENSP00000308741", "ENSEMBL:ENSP00000308741.4", "ENSEMBL:ENSP00000370723", "ENSEMBL:ENSP00000370723.1", "ENSEMBL:ENSP00000426983", "ENSEMBL:ENSP00000426983.1", "UMLS:C1743089", "MESH:C538943", "UniProtKB:Q3ZCT4", "UniProtKB:Q53EU0"], "information_content": 90.9}
{"id": "UniProtKB:Q969S9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosome-releasing factor 2, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969S9-1", "PR:Q969S9-1", "ENSEMBL:ENSP00000296805", "ENSEMBL:ENSP00000296805.3", "ENSEMBL:ENSP00000427004", "ENSEMBL:ENSP00000427004.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQ26-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulating synaptic membrane exocytosis protein 2 isoform h8 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ26-8", "PR:Q9UQ26-8", "ENSEMBL:ENSP00000427018", "ENSEMBL:ENSP00000427018.3"], "information_content": 100.0}
{"id": "NCBIGene:55602", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDKN2AIP", "equivalent_identifiers": ["NCBIGene:55602", "ENSEMBL:ENSG00000168564", "HGNC:24325", "OMIM:615914", "UMLS:C1824687", "UniProtKB:B3KTW3", "UMLS:C2714307", "MESH:C539004", "UniProtKB:J3KNE1", "ENSEMBL:ENSP00000303788", "ENSEMBL:ENSP00000303788.4", "UniProtKB:Q9NXV6", "PR:Q9NXV6", "ENSEMBL:ENSP00000427108", "ENSEMBL:ENSP00000427108.1"], "information_content": 92.8}
{"id": "UniProtKB:Q9P0K7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankycorbin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0K7-2", "PR:Q9P0K7-2", "ENSEMBL:ENSP00000427123", "ENSEMBL:ENSP00000427123.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UYE1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leukemia-associated protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UYE1-1", "PR:Q6UYE1-1", "ENSEMBL:ENSP00000427177", "ENSEMBL:ENSP00000427177.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92870-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amyloid beta precursor protein binding family B member 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q92870-4", "PR:Q92870-4", "ENSEMBL:ENSP00000427211", "ENSEMBL:ENSP00000427211.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCQ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase MARCHF1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCQ1-1", "PR:Q8TCQ1-1", "ENSEMBL:ENSP00000274056", "ENSEMBL:ENSP00000274056.7", "ENSEMBL:ENSP00000427223", "ENSEMBL:ENSP00000427223.1"], "information_content": 100.0}
{"id": "NCBIGene:2920", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCL2", "equivalent_identifiers": ["NCBIGene:2920", "ENSEMBL:ENSG00000081041", "HGNC:4603", "OMIM:139110", "UMLS:C0812310", "UniProtKB:P19875", "PR:P19875", "ENSEMBL:ENSP00000427279", "ENSEMBL:ENSP00000427279.1", "UMLS:C0245297", "MESH:C499706"], "information_content": 95.4}
{"id": "NCBIGene:139628", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXR2", "equivalent_identifiers": ["NCBIGene:139628", "ENSEMBL:ENSG00000189299", "HGNC:30469", "OMIM:300949", "UMLS:C1539529", "UniProtKB:Q6PJQ5", "PR:Q6PJQ5", "ENSEMBL:ENSP00000427329", "ENSEMBL:ENSP00000427329.2", "UMLS:C1568087", "MESH:C499816"], "information_content": 100.0}
{"id": "NCBIGene:1735", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DIO3", "equivalent_identifiers": ["NCBIGene:1735", "ENSEMBL:ENSG00000197406", "HGNC:2885", "OMIM:601038", "UMLS:C1414053", "UniProtKB:P55073", "PR:P55073", "ENSEMBL:ENSP00000427336", "ENSEMBL:ENSP00000427336.3", "UniProtKB:Q86TU3"], "information_content": 95.4}
{"id": "UniProtKB:P0DMU8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CT455_HUMAN Cancer/testis antigen family 45 member A5 (sprot)", "equivalent_identifiers": ["UniProtKB:P0DMU8", "PR:P0DMU8", "ENSEMBL:ENSP00000427342", "ENSEMBL:ENSP00000427342.2", "ENSEMBL:ENSP00000483658", "ENSEMBL:ENSP00000483658.1", "ENSEMBL:ENSP00000514077", "ENSEMBL:ENSP00000514077.1"], "information_content": 100.0}
{"id": "NCBIGene:285672", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SREK1IP1", "equivalent_identifiers": ["NCBIGene:285672", "ENSEMBL:ENSG00000153006", "HGNC:26716", "UMLS:C2239924", "UniProtKB:Q8N9Q2", "PR:Q8N9Q2", "ENSEMBL:ENSP00000427401", "ENSEMBL:ENSP00000427401.3", "UMLS:C1571397", "MESH:C502421"], "information_content": 100.0}
{"id": "UniProtKB:Q8N5G0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small integral membrane protein 20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5G0-1", "PR:Q8N5G0-1", "ENSEMBL:ENSP00000427407", "ENSEMBL:ENSP00000427407.2"], "information_content": 100.0}
{"id": "NCBIGene:56990", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC42SE2", "equivalent_identifiers": ["NCBIGene:56990", "ENSEMBL:ENSG00000158985", "HGNC:18547", "OMIM:619457", "UMLS:C1540304", "UniProtKB:Q9NRR3", "PR:Q9NRR3", "ENSEMBL:ENSP00000353706", "ENSEMBL:ENSP00000353706.3", "ENSEMBL:ENSP00000378667", "ENSEMBL:ENSP00000378667.1", "ENSEMBL:ENSP00000427421", "ENSEMBL:ENSP00000427421.1", "UMLS:C1869880", "MESH:C515671"], "information_content": 92.8}
{"id": "UniProtKB:O95379-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor alpha-induced protein 8 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O95379-4", "PR:O95379-4", "ENSEMBL:ENSP00000427424", "ENSEMBL:ENSP00000427424.1"], "information_content": 100.0}
{"id": "NCBIGene:60559", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPCS3", "equivalent_identifiers": ["NCBIGene:60559", "ENSEMBL:ENSG00000129128", "HGNC:26212", "OMIM:618854", "UMLS:C1539819", "UniProtKB:P61009", "PR:P61009", "ENSEMBL:ENSP00000427463", "ENSEMBL:ENSP00000427463.1", "UMLS:C1308102", "MESH:C106172"], "information_content": 92.8}
{"id": "UniProtKB:P49715-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCAAT/enhancer-binding protein alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49715-1", "PR:P49715-1", "ENSEMBL:ENSP00000427514", "ENSEMBL:ENSP00000427514.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TEP8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 192 kDa isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEP8-3", "PR:Q8TEP8-3", "ENSEMBL:ENSP00000427550", "ENSEMBL:ENSP00000427550.1"], "information_content": 100.0}
{"id": "UniProtKB:Q08345-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epithelial discoidin domain-containing receptor 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q08345-5", "PR:Q08345-5", "ENSEMBL:ENSP00000427552", "ENSEMBL:ENSP00000427552.1"], "information_content": 100.0}
{"id": "NCBIGene:285556", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C4orf54", "equivalent_identifiers": ["NCBIGene:285556", "ENSEMBL:ENSG00000248713", "HGNC:27741", "OMIM:617881", "UMLS:C4554750", "UniProtKB:D6RIA3", "PR:D6RIA3", "ENSEMBL:ENSP00000427555", "ENSEMBL:ENSP00000427555.1"], "information_content": 100.0}
{"id": "UniProtKB:P42684-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase ABL2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P42684-1", "PR:P42684-1", "ENSEMBL:ENSP00000427562", "ENSEMBL:ENSP00000427562.1"], "information_content": 100.0}
{"id": "NCBIGene:85462", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FHDC1", "equivalent_identifiers": ["NCBIGene:85462", "ENSEMBL:ENSG00000137460", "HGNC:29363", "OMIM:620268", "UMLS:C2239452", "UniProtKB:Q9C0D6", "PR:Q9C0D6", "ENSEMBL:ENSP00000427567", "ENSEMBL:ENSP00000427567.1", "UMLS:C3889634", "UMLS:C5773118", "MESH:C000723729"], "information_content": 95.4}
{"id": "NCBIGene:2555", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABRA2", "equivalent_identifiers": ["NCBIGene:2555", "ENSEMBL:ENSG00000151834", "HGNC:4076", "OMIM:137140", "UMLS:C1414909", "UniProtKB:E9PBQ7", "ENSEMBL:ENSP00000427603", "ENSEMBL:ENSP00000427603.1", "UMLS:C1451068", "MESH:C484841", "UniProtKB:G5E9Z6", "ENSEMBL:ENSP00000423840", "ENSEMBL:ENSP00000423840.1", "UniProtKB:P47869", "PR:P47869"]}
{"id": "UniProtKB:Q96Q91-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "anion exchange protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q91-1", "PR:Q96Q91-1", "ENSEMBL:ENSP00000427661", "ENSEMBL:ENSP00000427661.1"], "information_content": 100.0}
{"id": "NCBIGene:4547", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTTP", "equivalent_identifiers": ["NCBIGene:4547", "ENSEMBL:ENSG00000138823", "HGNC:7467", "OMIM:157147", "UMLS:C1826328", "UniProtKB:B7Z7X3", "UniProtKB:E9PBP6", "ENSEMBL:ENSP00000427679", "ENSEMBL:ENSP00000427679.2", "UniProtKB:P55157", "PR:P55157", "UMLS:C1741347"]}
{"id": "UniProtKB:O75083-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75083-1", "PR:O75083-1", "ENSEMBL:ENSP00000427687", "ENSEMBL:ENSP00000427687.1", "ENSEMBL:ENSP00000514593", "ENSEMBL:ENSP00000514593.1"], "information_content": 100.0}
{"id": "UniProtKB:P06028-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycophorin-B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P06028-1", "PR:P06028-1", "ENSEMBL:ENSP00000427690", "ENSEMBL:ENSP00000427690.1"], "information_content": 100.0}
{"id": "NCBIGene:10140", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TOB1", "equivalent_identifiers": ["NCBIGene:10140", "ENSEMBL:ENSG00000141232", "HGNC:11979", "OMIM:605523", "UMLS:C1420851", "UniProtKB:P50616", "PR:P50616", "ENSEMBL:ENSP00000268957", "ENSEMBL:ENSP00000268957.3", "ENSEMBL:ENSP00000427695", "ENSEMBL:ENSP00000427695.1", "UMLS:C0387984", "MESH:C098669"], "information_content": 89.4}
{"id": "UniProtKB:Q8IX03-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein KIBRA isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IX03-2", "PR:Q8IX03-2", "ENSEMBL:ENSP00000427772", "ENSEMBL:ENSP00000427772.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0M0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NEDD4-like E3 ubiquitin-protein ligase WWP1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0M0-1", "PR:Q9H0M0-1", "ENSEMBL:ENSP00000265428", "ENSEMBL:ENSP00000265428.4", "ENSEMBL:ENSP00000427793", "ENSEMBL:ENSP00000427793.1"], "information_content": 100.0}
{"id": "NCBIGene:342538", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NACA2", "equivalent_identifiers": ["NCBIGene:342538", "ENSEMBL:ENSG00000253506", "HGNC:23290", "OMIM:609274", "UMLS:C1538032", "UniProtKB:Q9H009", "PR:Q9H009", "ENSEMBL:ENSP00000427802", "ENSEMBL:ENSP00000427802.1"], "information_content": 95.4}
{"id": "UniProtKB:Q49A92-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C8orf34 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q49A92-6", "PR:Q49A92-6", "ENSEMBL:ENSP00000427820", "ENSEMBL:ENSP00000427820.1"], "information_content": 100.0}
{"id": "MONDO:0014453", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "immunodeficiency 36", "equivalent_identifiers": ["MONDO:0014453", "DOID:0111949", "OMIM:616005", "UMLS:C4014934", "NCIT:C176703", "medgen:863371"], "information_content": 100.0}
{"id": "UniProtKB:Q08495-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dematin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q08495-1", "PR:Q08495-1", "ENSEMBL:ENSP00000265800", "ENSEMBL:ENSP00000265800.5", "ENSEMBL:ENSP00000350977", "ENSEMBL:ENSP00000350977.3", "ENSEMBL:ENSP00000416111", "ENSEMBL:ENSP00000416111.1", "ENSEMBL:ENSP00000427866", "ENSEMBL:ENSP00000427866.1", "ENSEMBL:ENSP00000430609", "ENSEMBL:ENSP00000430609.2"], "information_content": 100.0}
{"id": "NCBIGene:57451", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TENM2", "equivalent_identifiers": ["NCBIGene:57451", "ENSEMBL:ENSG00000145934", "HGNC:29943", "OMIM:610119", "UMLS:C1538510", "UniProtKB:A0A8Q3SI97", "ENSEMBL:ENSP00000512239", "ENSEMBL:ENSP00000512239.1", "UniProtKB:A0A8Q3SIA3", "ENSEMBL:ENSP00000512289", "ENSEMBL:ENSP00000512289.1", "UMLS:C4547052", "MESH:C000624688", "UniProtKB:F8VNQ3", "ENSEMBL:ENSP00000427874", "ENSEMBL:ENSP00000427874.1", "UniProtKB:G3V106", "ENSEMBL:ENSP00000428964", "ENSEMBL:ENSP00000428964.1", "UniProtKB:Q9NT68", "PR:Q9NT68"]}
{"id": "UniProtKB:Q7Z5J8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin and armadillo repeat-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5J8-1", "PR:Q7Z5J8-1", "ENSEMBL:ENSP00000313513", "ENSEMBL:ENSP00000313513.4", "ENSEMBL:ENSP00000427882", "ENSEMBL:ENSP00000427882.1", "ENSEMBL:ENSP00000507233", "ENSEMBL:ENSP00000507233.1"], "information_content": 100.0}
{"id": "NCBIGene:222537", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HS3ST5", "equivalent_identifiers": ["NCBIGene:222537", "ENSEMBL:ENSG00000249853", "HGNC:19419", "OMIM:609407", "UMLS:C1426230", "UniProtKB:Q8IZT8", "PR:Q8IZT8", "ENSEMBL:ENSP00000427888", "ENSEMBL:ENSP00000427888.1", "UMLS:C1433152"], "information_content": 95.4}
{"id": "UniProtKB:Q9NQT8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF13B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQT8-1", "PR:Q9NQT8-1", "ENSEMBL:ENSP00000427900", "ENSEMBL:ENSP00000427900.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYZ6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho-related BTB domain-containing protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYZ6-2", "PR:Q9BYZ6-2", "ENSEMBL:ENSP00000427926", "ENSEMBL:ENSP00000427926.1"], "information_content": 100.0}
{"id": "NCBIGene:347475", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC160", "equivalent_identifiers": ["NCBIGene:347475", "ENSEMBL:ENSG00000203952", "HGNC:37286", "UMLS:C2828947", "UniProtKB:A6NGH7", "PR:A6NGH7", "ENSEMBL:ENSP00000359845", "ENSEMBL:ENSP00000359845.4", "ENSEMBL:ENSP00000427951", "ENSEMBL:ENSP00000427951.1", "ENSEMBL:ENSP00000511932", "ENSEMBL:ENSP00000511932.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2T7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ran-binding protein 17 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2T7-1", "PR:Q9H2T7-1", "ENSEMBL:ENSP00000427975", "ENSEMBL:ENSP00000427975.1"], "information_content": 100.0}
{"id": "NCBIGene:1808", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DPYSL2", "equivalent_identifiers": ["NCBIGene:1808", "ENSEMBL:ENSG00000092964", "HGNC:3014", "OMIM:602463", "UMLS:C1414145", "UniProtKB:A0A1C7CYX9", "ENSEMBL:ENSP00000427985", "ENSEMBL:ENSP00000427985.2", "UMLS:C1430549", "UniProtKB:Q16555", "PR:Q16555", "UniProtKB:Q59GB4"]}
{"id": "UniProtKB:P27986-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 3-kinase regulatory subunit alpha isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P27986-1", "PR:P27986-1", "ENSEMBL:ENSP00000428056", "ENSEMBL:ENSP00000428056.1", "ENSEMBL:ENSP00000429277", "ENSEMBL:ENSP00000429277.1", "ENSEMBL:ENSP00000513316", "ENSEMBL:ENSP00000513316.1", "ENSEMBL:ENSP00000513333", "ENSEMBL:ENSP00000513333.1"], "information_content": 100.0}
{"id": "NCBIGene:6156", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL30", "equivalent_identifiers": ["NCBIGene:6156", "ENSEMBL:ENSG00000156482", "HGNC:10333", "OMIM:180467", "UMLS:C1419656", "UniProtKB:P62888", "PR:P62888", "ENSEMBL:ENSP00000287038", "ENSEMBL:ENSP00000287038.3", "ENSEMBL:ENSP00000428085", "ENSEMBL:ENSP00000428085.1"], "information_content": 85.5}
{"id": "UniProtKB:O94905-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "erlin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O94905-1", "PR:O94905-1", "ENSEMBL:ENSP00000428112", "ENSEMBL:ENSP00000428112.1"], "information_content": 100.0}
{"id": "NCBIGene:57210", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC45A4", "equivalent_identifiers": ["NCBIGene:57210", "ENSEMBL:ENSG00000022567", "HGNC:29196", "OMIM:619581", "UMLS:C1822766", "UniProtKB:B2RXG1", "UniProtKB:E7EV90", "ENSEMBL:ENSP00000428137", "ENSEMBL:ENSP00000428137.1", "UniProtKB:Q5BKX6", "PR:Q5BKX6"]}
{"id": "NCBIGene:4355", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MPP2", "equivalent_identifiers": ["NCBIGene:4355", "ENSEMBL:ENSG00000108852", "HGNC:7220", "OMIM:600723", "UMLS:C1334526", "UniProtKB:A0A0A0MRU0", "ENSEMBL:ENSP00000366389", "ENSEMBL:ENSP00000366389.3", "UniProtKB:A0A0C4DH75", "ENSEMBL:ENSP00000428182", "ENSEMBL:ENSP00000428182.1", "UniProtKB:B4DRL7", "UniProtKB:B4DZ84", "ENSEMBL:ENSP00000430540", "ENSEMBL:ENSP00000430540.1", "ENSEMBL:ENSP00000438012", "ENSEMBL:ENSP00000438012.1", "ENSEMBL:ENSP00000480071", "ENSEMBL:ENSP00000480071.1", "UniProtKB:D3DX48", "ENSEMBL:ENSP00000269095", "ENSEMBL:ENSP00000269095.4", "ENSEMBL:ENSP00000478528", "ENSEMBL:ENSP00000478528.1", "UniProtKB:D3DX49", "ENSEMBL:ENSP00000428286", "ENSEMBL:ENSP00000428286.1", "UniProtKB:Q14168", "PR:Q14168", "UMLS:C1335297"]}
{"id": "NCBIGene:6386", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDCBP", "equivalent_identifiers": ["NCBIGene:6386", "ENSEMBL:ENSG00000137575", "HGNC:10662", "OMIM:602217", "UMLS:C1419895", "UniProtKB:B4DHN5", "ENSEMBL:ENSP00000430730", "ENSEMBL:ENSP00000430730.1", "UniProtKB:G5EA09", "ENSEMBL:ENSP00000428184", "ENSEMBL:ENSP00000428184.1", "ENSEMBL:ENSP00000487245", "ENSEMBL:ENSP00000487245.1", "UniProtKB:O00560", "PR:O00560", "UMLS:C1308361", "MESH:C109621"]}
{"id": "UniProtKB:Q969P5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box only protein 32 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969P5-1", "PR:Q969P5-1", "ENSEMBL:ENSP00000428205", "ENSEMBL:ENSP00000428205.1"], "information_content": 100.0}
{"id": "NCBIGene:7336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2V2", "equivalent_identifiers": ["NCBIGene:7336", "ENSEMBL:ENSG00000169139", "HGNC:12495", "OMIM:603001", "UMLS:C1421292", "UniProtKB:A0M8W4", "UMLS:C0758012", "MESH:C114715", "UniProtKB:Q15819", "PR:Q15819", "ENSEMBL:ENSP00000428209", "ENSEMBL:ENSP00000428209.1"], "information_content": 92.8}
{"id": "UniProtKB:A1A4Y4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "immunity-related GTPase family M protein isoform IRGMa (human)", "equivalent_identifiers": ["UniProtKB:A1A4Y4-1", "PR:A1A4Y4-1", "ENSEMBL:ENSP00000428220", "ENSEMBL:ENSP00000428220.1"], "information_content": 100.0}
{"id": "MONDO:0012845", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 19", "equivalent_identifiers": ["MONDO:0012845", "DOID:0110890", "OMIM:612278", "UMLS:C2677079", "MESH:C567372", "medgen:393652"], "information_content": 100.0}
{"id": "NCBIGene:1070", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CETN3", "equivalent_identifiers": ["NCBIGene:1070", "ENSEMBL:ENSG00000153140", "HGNC:1868", "OMIM:602907", "UMLS:C1413352", "UniProtKB:E5RFM2", "ENSEMBL:ENSP00000430361", "ENSEMBL:ENSP00000430361.1", "UMLS:C0664900", "MESH:C107745", "UniProtKB:E5RJF8", "ENSEMBL:ENSP00000428259", "ENSEMBL:ENSP00000428259.1", "UniProtKB:O15182", "PR:O15182", "ENSEMBL:ENSP00000283122", "ENSEMBL:ENSP00000283122.3"]}
{"id": "UniProtKB:Q7Z3D6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D-glutamate cyclase, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3D6-2", "PR:Q7Z3D6-2", "ENSEMBL:ENSP00000256324", "ENSEMBL:ENSP00000256324.9", "ENSEMBL:ENSP00000404196", "ENSEMBL:ENSP00000404196.2", "ENSEMBL:ENSP00000428263", "ENSEMBL:ENSP00000428263.1"], "information_content": 100.0}
{"id": "NCBIGene:654463", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FER1L6", "equivalent_identifiers": ["NCBIGene:654463", "ENSEMBL:ENSG00000214814", "HGNC:28065", "OMIM:620884", "UMLS:C2239451", "UniProtKB:Q2WGJ9", "PR:Q2WGJ9", "ENSEMBL:ENSP00000428280", "ENSEMBL:ENSP00000428280.1"], "information_content": 89.4}
{"id": "MONDO:0014867", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 43", "equivalent_identifiers": ["MONDO:0014867", "DOID:0111745", "OMIM:617018", "orphanet:497764", "EFO:0009060", "UMLS:C4310763", "SNOMEDCT:1208516002", "medgen:934730"], "information_content": 100.0}
{"id": "UniProtKB:Q86V25-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulinyl-Tyr carboxypeptidase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86V25-1", "PR:Q86V25-1", "ENSEMBL:ENSP00000428324", "ENSEMBL:ENSP00000428324.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99619-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SPRY domain-containing SOCS box protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99619-1", "PR:Q99619-1", "ENSEMBL:ENSP00000428338", "ENSEMBL:ENSP00000428338.1", "ENSEMBL:ENSP00000430872", "ENSEMBL:ENSP00000430872.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15389-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "angiopoietin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15389-1", "PR:Q15389-1", "ENSEMBL:ENSP00000428340", "ENSEMBL:ENSP00000428340.1"], "information_content": 100.0}
{"id": "NCBIGene:431704", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RGS21", "equivalent_identifiers": ["NCBIGene:431704", "ENSEMBL:ENSG00000253148", "HGNC:26839", "OMIM:612407", "UMLS:C1538836", "UniProtKB:Q2M5E4", "PR:Q2M5E4", "ENSEMBL:ENSP00000428343", "ENSEMBL:ENSP00000428343.1", "UMLS:C1723558", "MESH:C512065"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUQ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "clavesin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUQ0-1", "PR:Q8IUQ0-1", "ENSEMBL:ENSP00000325506", "ENSEMBL:ENSP00000325506.4", "ENSEMBL:ENSP00000428402", "ENSEMBL:ENSP00000428402.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86UR5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulating synaptic membrane exocytosis protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UR5-1", "PR:Q86UR5-1", "ENSEMBL:ENSP00000428417", "ENSEMBL:ENSP00000428417.1"], "information_content": 100.0}
{"id": "UniProtKB:P23193-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription elongation factor A protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P23193-1", "PR:P23193-1", "ENSEMBL:ENSP00000428426", "ENSEMBL:ENSP00000428426.2"], "information_content": 100.0}
{"id": "UniProtKB:P56179-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein DLX-6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P56179-3", "PR:P56179-3", "ENSEMBL:ENSP00000428480", "ENSEMBL:ENSP00000428480.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96KB5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lymphokine-activated killer T-cell-originated protein kinase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96KB5-2", "PR:Q96KB5-2", "ENSEMBL:ENSP00000428489", "ENSEMBL:ENSP00000428489.1"], "information_content": 100.0}
{"id": "UniProtKB:O00451-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GDNF family receptor alpha-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00451-1", "PR:O00451-1", "ENSEMBL:ENSP00000428518", "ENSEMBL:ENSP00000428518.1", "ENSEMBL:ENSP00000429445", "ENSEMBL:ENSP00000429445.1"], "information_content": 100.0}
{"id": "NCBIGene:6482", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ST3GAL1", "equivalent_identifiers": ["NCBIGene:6482", "ENSEMBL:ENSG00000008513", "HGNC:10862", "OMIM:607187", "UMLS:C1539859", "UniProtKB:Q11201", "PR:Q11201", "ENSEMBL:ENSP00000428540", "ENSEMBL:ENSP00000428540.1", "ENSEMBL:ENSP00000430515", "ENSEMBL:ENSP00000430515.1", "ENSEMBL:ENSP00000497381", "ENSEMBL:ENSP00000497381.1", "UMLS:C5771948", "MESH:C000722087"], "information_content": 92.8}
{"id": "NCBIGene:399474", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM200B", "equivalent_identifiers": ["NCBIGene:399474", "ENSEMBL:ENSG00000253304", "HGNC:33785", "UMLS:C2240106", "UniProtKB:Q69YZ2", "PR:Q69YZ2", "ENSEMBL:ENSP00000428459", "ENSEMBL:ENSP00000428459.1", "ENSEMBL:ENSP00000428544", "ENSEMBL:ENSP00000428544.1"], "information_content": 100.0}
{"id": "UniProtKB:O95487-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein transport protein Sec24B isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O95487-3", "PR:O95487-3", "ENSEMBL:ENSP00000428564", "ENSEMBL:ENSP00000428564.1"], "information_content": 100.0}
{"id": "NCBIGene:4061", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LY6E", "equivalent_identifiers": ["NCBIGene:4061", "ENSEMBL:ENSG00000160932", "HGNC:6727", "OMIM:601384", "UMLS:C1334353", "UniProtKB:Q16553", "PR:Q16553", "ENSEMBL:ENSP00000292494", "ENSEMBL:ENSP00000292494.6", "ENSEMBL:ENSP00000414307", "ENSEMBL:ENSP00000414307.2", "ENSEMBL:ENSP00000427915", "ENSEMBL:ENSP00000427915.1", "ENSEMBL:ENSP00000428159", "ENSEMBL:ENSP00000428159.1", "ENSEMBL:ENSP00000428169", "ENSEMBL:ENSP00000428169.1", "ENSEMBL:ENSP00000428427", "ENSEMBL:ENSP00000428427.3", "ENSEMBL:ENSP00000428442", "ENSEMBL:ENSP00000428442.1", "ENSEMBL:ENSP00000428572", "ENSEMBL:ENSP00000428572.1", "ENSEMBL:ENSP00000482517", "ENSEMBL:ENSP00000482517.1", "ENSEMBL:ENSP00000487664", "ENSEMBL:ENSP00000487664.1", "ENSEMBL:ENSP00000488421", "ENSEMBL:ENSP00000488421.1", "ENSEMBL:ENSP00000488443", "ENSEMBL:ENSP00000488443.1", "ENSEMBL:ENSP00000488556", "ENSEMBL:ENSP00000488556.1", "ENSEMBL:ENSP00000488559", "ENSEMBL:ENSP00000488559.1", "ENSEMBL:ENSP00000488891", "ENSEMBL:ENSP00000488891.1", "UMLS:C1099221", "MESH:C439870"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y5F9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-B6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5F9-1", "PR:Q9Y5F9-1", "ENSEMBL:ENSP00000428603", "ENSEMBL:ENSP00000428603.1"], "information_content": 100.0}
{"id": "NCBIGene:347051", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC10A5", "equivalent_identifiers": ["NCBIGene:347051", "ENSEMBL:ENSG00000253598", "HGNC:22981", "OMIM:618582", "UMLS:C1427833", "UniProtKB:Q5PT55", "PR:Q5PT55", "ENSEMBL:ENSP00000428612", "ENSEMBL:ENSP00000428612.1", "UMLS:C2000707", "MESH:C522906"], "information_content": 100.0}
{"id": "NCBIGene:9724", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UTP14C", "equivalent_identifiers": ["NCBIGene:9724", "ENSEMBL:ENSG00000253797", "HGNC:20321", "OMIM:608969", "UMLS:C1540169", "UniProtKB:Q5TAP6", "PR:Q5TAP6", "ENSEMBL:ENSP00000428619", "ENSEMBL:ENSP00000428619.1"], "information_content": 100.0}
{"id": "NCBIGene:150726", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXO41", "equivalent_identifiers": ["NCBIGene:150726", "ENSEMBL:ENSG00000163013", "HGNC:29409", "OMIM:609108", "UMLS:C1539495", "UniProtKB:Q8TF61", "PR:Q8TF61", "ENSEMBL:ENSP00000295133", "ENSEMBL:ENSP00000295133.6", "ENSEMBL:ENSP00000428646", "ENSEMBL:ENSP00000428646.1", "ENSEMBL:ENSP00000430968", "ENSEMBL:ENSP00000430968.2", "UMLS:C3849155", "MESH:C588009"], "information_content": 100.0}
{"id": "UniProtKB:Q13075-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "baculoviral IAP repeat-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13075-1", "PR:Q13075-1", "ENSEMBL:ENSP00000428657", "ENSEMBL:ENSP00000428657.2", "ENSEMBL:ENSP00000443944", "ENSEMBL:ENSP00000443944.1"], "information_content": 100.0}
{"id": "MONDO:0013255", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "arthrogryposis, renal dysfunction, and cholestasis 2", "equivalent_identifiers": ["MONDO:0013255", "DOID:0111354", "OMIM:613404", "UMLS:C3150672", "medgen:462022"], "information_content": 100.0}
{"id": "NCBIGene:22898", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DENND3", "equivalent_identifiers": ["NCBIGene:22898", "ENSEMBL:ENSG00000105339", "HGNC:29134", "OMIM:617503", "UMLS:C1824912", "UniProtKB:A2RUS2", "PR:A2RUS2", "UMLS:C4277473", "MESH:C000605578", "UniProtKB:E9PF32", "ENSEMBL:ENSP00000428714", "ENSEMBL:ENSP00000428714.1"]}
{"id": "UniProtKB:E7ET48", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E7ET48_HUMAN Crystallin beta-gamma domain containing 2 (trembl)", "equivalent_identifiers": ["UniProtKB:E7ET48", "ENSEMBL:ENSP00000428746", "ENSEMBL:ENSP00000428746.2"]}
{"id": "UniProtKB:Q9NUL3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "double-stranded RNA-binding protein Staufen homolog 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUL3-1", "PR:Q9NUL3-1", "ENSEMBL:ENSP00000428756", "ENSEMBL:ENSP00000428756.1"], "information_content": 100.0}
{"id": "NCBIGene:137075", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN23", "equivalent_identifiers": ["NCBIGene:137075", "ENSEMBL:ENSG00000253958", "HGNC:17591", "OMIM:609203", "UMLS:C1539084", "UniProtKB:Q96B33", "PR:Q96B33", "ENSEMBL:ENSP00000428780", "ENSEMBL:ENSP00000428780.1", "ENSEMBL:ENSP00000495091", "ENSEMBL:ENSP00000495091.1", "UMLS:C1435148", "MESH:C481943"], "information_content": 100.0}
{"id": "UniProtKB:P53677-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-3 complex subunit mu-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P53677-1", "PR:P53677-1", "ENSEMBL:ENSP00000380132", "ENSEMBL:ENSP00000380132.3", "ENSEMBL:ENSP00000428787", "ENSEMBL:ENSP00000428787.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y277-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "non-selective voltage-gated ion channel VDAC3 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y277-2", "PR:Q9Y277-2", "ENSEMBL:ENSP00000428845", "ENSEMBL:ENSP00000428845.1"], "information_content": 100.0}
{"id": "NCBIGene:100507341", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM18", "equivalent_identifiers": ["NCBIGene:100507341", "ENSEMBL:ENSG00000253457", "HGNC:42973", "UMLS:C3542074", "UniProtKB:P0DKX4", "PR:P0DKX4", "ENSEMBL:ENSP00000428858", "ENSEMBL:ENSP00000428858.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6NT32-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carboxylesterase 5A isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q6NT32-4", "PR:Q6NT32-4", "ENSEMBL:ENSP00000428864", "ENSEMBL:ENSP00000428864.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86UY5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM83A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86UY5-1", "PR:Q86UY5-1", "ENSEMBL:ENSP00000428876", "ENSEMBL:ENSP00000428876.1", "ENSEMBL:ENSP00000509471", "ENSEMBL:ENSP00000509471.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TF20-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 721 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF20-2", "PR:Q8TF20-2", "ENSEMBL:ENSP00000428878", "ENSEMBL:ENSP00000428878.1"], "information_content": 100.0}
{"id": "UniProtKB:P07948-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase Lyn isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P07948-1", "PR:P07948-1", "ENSEMBL:ENSP00000428924", "ENSEMBL:ENSP00000428924.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NV58-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF19A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NV58-1", "PR:Q9NV58-1", "ENSEMBL:ENSP00000342667", "ENSEMBL:ENSP00000342667.2", "ENSEMBL:ENSP00000428968", "ENSEMBL:ENSP00000428968.1"], "information_content": 100.0}
{"id": "UniProtKB:O75365-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein tyrosine phosphatase type IVA 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75365-1", "PR:O75365-1", "ENSEMBL:ENSP00000331730", "ENSEMBL:ENSP00000331730.2", "ENSEMBL:ENSP00000332274", "ENSEMBL:ENSP00000332274.1", "ENSEMBL:ENSP00000428976", "ENSEMBL:ENSP00000428976.1", "ENSEMBL:ENSP00000484500", "ENSEMBL:ENSP00000484500.1", "ENSEMBL:ENSP00000487595", "ENSEMBL:ENSP00000487595.1", "ENSEMBL:ENSP00000505068", "ENSEMBL:ENSP00000505068.1", "ENSEMBL:ENSP00000516927", "ENSEMBL:ENSP00000516927.1", "ENSEMBL:ENSP00000516928", "ENSEMBL:ENSP00000516928.1", "ENSEMBL:ENSP00000516929", "ENSEMBL:ENSP00000516929.1", "ENSEMBL:ENSP00000516930", "ENSEMBL:ENSP00000516930.1"], "information_content": 100.0}
{"id": "UniProtKB:P24863-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P24863-1", "PR:P24863-1", "ENSEMBL:ENSP00000428982", "ENSEMBL:ENSP00000428982.1"], "information_content": 100.0}
{"id": "UniProtKB:P42261-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P42261-5", "PR:P42261-5", "ENSEMBL:ENSP00000428994", "ENSEMBL:ENSP00000428994.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86W74-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 46 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86W74-1", "PR:Q86W74-1", "ENSEMBL:ENSP00000429015", "ENSEMBL:ENSP00000429015.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5G2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-B2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5G2-1", "PR:Q9Y5G2-1", "ENSEMBL:ENSP00000429018", "ENSEMBL:ENSP00000429018.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NV88-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrator complex subunit 9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NV88-1", "PR:Q9NV88-1", "ENSEMBL:ENSP00000429065", "ENSEMBL:ENSP00000429065.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N8D7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NKAI3_HUMAN Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 (sprot)", "equivalent_identifiers": ["UniProtKB:Q8N8D7", "PR:Q8N8D7", "ENSEMBL:ENSP00000429073", "ENSEMBL:ENSP00000429073.1"], "information_content": 100.0}
{"id": "UniProtKB:O95071-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase UBR5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95071-1", "PR:O95071-1", "ENSEMBL:ENSP00000429084", "ENSEMBL:ENSP00000429084.1"], "information_content": 100.0}
{"id": "UniProtKB:O96020-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G1/S-specific cyclin-E2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:O96020-1", "PR:O96020-1", "ENSEMBL:ENSP00000309181", "ENSEMBL:ENSP00000309181.4", "ENSEMBL:ENSP00000429089", "ENSEMBL:ENSP00000429089.1"], "information_content": 100.0}
{"id": "UniProtKB:Q2M3X9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 674 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2M3X9-1", "PR:Q2M3X9-1", "ENSEMBL:ENSP00000429148", "ENSEMBL:ENSP00000429148.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUQ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CYFIP-related Rac1 interactor B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUQ9-1", "PR:Q9NUQ9-1", "ENSEMBL:ENSP00000384880", "ENSEMBL:ENSP00000384880.2", "ENSEMBL:ENSP00000428117", "ENSEMBL:ENSP00000428117.1", "ENSEMBL:ENSP00000429078", "ENSEMBL:ENSP00000429078.1", "ENSEMBL:ENSP00000429150", "ENSEMBL:ENSP00000429150.1", "ENSEMBL:ENSP00000429499", "ENSEMBL:ENSP00000429499.1", "ENSEMBL:ENSP00000429802", "ENSEMBL:ENSP00000429802.1", "ENSEMBL:ENSP00000430674", "ENSEMBL:ENSP00000430674.1", "ENSEMBL:ENSP00000511587", "ENSEMBL:ENSP00000511587.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N8Q3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endonuclease V isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8Q3-1", "PR:Q8N8Q3-1", "ENSEMBL:ENSP00000429190", "ENSEMBL:ENSP00000429190.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitoferrin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYZ2-1", "PR:Q9NYZ2-1", "ENSEMBL:ENSP00000429200", "ENSEMBL:ENSP00000429200.1"], "information_content": 100.0}
{"id": "NCBIGene:388610", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRNP1", "equivalent_identifiers": ["NCBIGene:388610", "ENSEMBL:ENSG00000253368", "HGNC:34348", "OMIM:616824", "UMLS:C2681079", "UniProtKB:A0A8E5N8C3", "UniProtKB:Q6NT89", "PR:Q6NT89", "ENSEMBL:ENSP00000429216", "ENSEMBL:ENSP00000429216.2", "ENSEMBL:ENSP00000436467", "ENSEMBL:ENSP00000436467.2"], "information_content": 100.0}
{"id": "UniProtKB:Q93045-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stathmin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q93045-2", "PR:Q93045-2", "ENSEMBL:ENSP00000429243", "ENSEMBL:ENSP00000429243.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5G3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-B1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5G3-1", "PR:Q9Y5G3-1", "ENSEMBL:ENSP00000429273", "ENSEMBL:ENSP00000429273.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92608-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dedicator of cytokinesis protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92608-1", "PR:Q92608-1", "ENSEMBL:ENSP00000429283", "ENSEMBL:ENSP00000429283.3"], "information_content": 100.0}
{"id": "UniProtKB:P55327-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor protein D52 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:P55327-6", "PR:P55327-6", "ENSEMBL:ENSP00000429309", "ENSEMBL:ENSP00000429309.1"], "information_content": 100.0}
{"id": "NCBIGene:8890", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF2B4", "equivalent_identifiers": ["NCBIGene:8890", "ENSEMBL:ENSG00000115211", "HGNC:3260", "OMIM:606687", "UMLS:C1414330", "UniProtKB:B4DUP5", "UniProtKB:E7ERK9", "ENSEMBL:ENSP00000429323", "ENSEMBL:ENSP00000429323.1", "UniProtKB:F8W8L6", "ENSEMBL:ENSP00000384375", "ENSEMBL:ENSP00000384375.2", "UniProtKB:Q71US4", "UniProtKB:Q9HBP7", "UniProtKB:Q9UI10", "PR:Q9UI10", "UMLS:C1522421"]}
{"id": "NCBIGene:10687", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PNMA2", "equivalent_identifiers": ["NCBIGene:10687", "ENSEMBL:ENSG00000240694", "HGNC:9159", "OMIM:603970", "UMLS:C1418712", "UniProtKB:Q5U5Z3", "UniProtKB:Q9UL42", "PR:Q9UL42", "ENSEMBL:ENSP00000429344", "ENSEMBL:ENSP00000429344.1", "UMLS:C1570649"], "information_content": 100.0}
{"id": "UniProtKB:A1XBS5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CBY1-interacting BAR domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A1XBS5-1", "PR:A1XBS5-1", "ENSEMBL:ENSP00000429367", "ENSEMBL:ENSP00000429367.1"], "information_content": 100.0}
{"id": "UniProtKB:P60866-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small ribosomal subunit protein uS10 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P60866-2", "PR:P60866-2", "ENSEMBL:ENSP00000429374", "ENSEMBL:ENSP00000429374.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96MM7-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heparan-sulfate 6-O-sulfotransferase 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96MM7-4", "PR:Q96MM7-4", "ENSEMBL:ENSP00000359870", "ENSEMBL:ENSP00000359870.3", "ENSEMBL:ENSP00000429473", "ENSEMBL:ENSP00000429473.1"], "information_content": 100.0}
{"id": "NCBIGene:286144", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIQK", "equivalent_identifiers": ["NCBIGene:286144", "ENSEMBL:ENSG00000205133", "HGNC:27828", "UMLS:C3470134", "UniProtKB:Q629K1", "PR:Q629K1", "ENSEMBL:ENSP00000368138", "ENSEMBL:ENSP00000368138.5", "ENSEMBL:ENSP00000428822", "ENSEMBL:ENSP00000428822.1", "ENSEMBL:ENSP00000429381", "ENSEMBL:ENSP00000429381.1", "ENSEMBL:ENSP00000429517", "ENSEMBL:ENSP00000429517.1", "ENSEMBL:ENSP00000429742", "ENSEMBL:ENSP00000429742.1", "ENSEMBL:ENSP00000429822", "ENSEMBL:ENSP00000429822.1", "ENSEMBL:ENSP00000430837", "ENSEMBL:ENSP00000430837.1", "ENSEMBL:ENSP00000430992", "ENSEMBL:ENSP00000430992.1", "ENSEMBL:ENSP00000442030", "ENSEMBL:ENSP00000442030.1"], "information_content": 95.4}
{"id": "MONDO:0001935", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neurogenic arthropathy", "equivalent_identifiers": ["MONDO:0001935", "DOID:14286", "EFO:1001378", "UMLS:C0003892", "MESH:D001177", "MEDDRA:10003375", "MEDDRA:10008408", "MEDDRA:10008410", "MEDDRA:10029326", "SNOMEDCT:359554008", "SNOMEDCT:67536000", "medgen:13919", "ICD10:M14.6", "ICD9:713.5", "HP:0002821"], "information_content": 100.0}
{"id": "UniProtKB:A6NJ46-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Nkx-6.3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:A6NJ46-2", "PR:A6NJ46-2", "ENSEMBL:ENSP00000429553", "ENSEMBL:ENSP00000429553.2"], "information_content": 100.0}
{"id": "NCBIGene:23025", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UNC13A", "equivalent_identifiers": ["NCBIGene:23025", "ENSEMBL:ENSG00000130477", "HGNC:23150", "OMIM:609894", "UMLS:C1427949", "UniProtKB:F8VZH8", "ENSEMBL:ENSP00000446831", "ENSEMBL:ENSP00000446831.1", "UniProtKB:Q9UPW8", "PR:Q9UPW8", "ENSEMBL:ENSP00000429562", "ENSEMBL:ENSP00000429562.2", "UMLS:C3502313"], "information_content": 100.0}
{"id": "UniProtKB:P10243-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Myb-related protein A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P10243-1", "PR:P10243-1", "ENSEMBL:ENSP00000429633", "ENSEMBL:ENSP00000429633.2"], "information_content": 100.0}
{"id": "NCBIGene:1345", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX6C", "equivalent_identifiers": ["NCBIGene:1345", "ENSEMBL:ENSG00000164919", "HGNC:2285", "OMIM:124090", "UMLS:C1332776", "UniProtKB:A0A024R9B7", "UniProtKB:P09669", "PR:P09669", "ENSEMBL:ENSP00000297564", "ENSEMBL:ENSP00000297564.2", "ENSEMBL:ENSP00000428150", "ENSEMBL:ENSP00000428150.1", "ENSEMBL:ENSP00000428702", "ENSEMBL:ENSP00000428702.1", "ENSEMBL:ENSP00000428895", "ENSEMBL:ENSP00000428895.1", "ENSEMBL:ENSP00000428965", "ENSEMBL:ENSP00000428965.1", "ENSEMBL:ENSP00000429410", "ENSEMBL:ENSP00000429410.1", "ENSEMBL:ENSP00000429707", "ENSEMBL:ENSP00000429707.1", "ENSEMBL:ENSP00000429714", "ENSEMBL:ENSP00000429714.1", "ENSEMBL:ENSP00000429755", "ENSEMBL:ENSP00000429755.1", "ENSEMBL:ENSP00000429991", "ENSEMBL:ENSP00000429991.1", "UMLS:C1333194"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWV7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein shisa-like-2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWV7-1", "PR:Q6UWV7-1", "ENSEMBL:ENSP00000429726", "ENSEMBL:ENSP00000429726.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13188-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13188-2", "PR:Q13188-2", "ENSEMBL:ENSP00000429744", "ENSEMBL:ENSP00000429744.1"], "information_content": 100.0}
{"id": "NCBIGene:6575", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC20A2", "equivalent_identifiers": ["NCBIGene:6575", "ENSEMBL:ENSG00000168575", "HGNC:10947", "OMIM:158378", "UMLS:C1420126", "UniProtKB:A0A384MR38", "UniProtKB:B2RBR4", "UniProtKB:B4DJ71", "UniProtKB:Q08357", "PR:Q08357", "ENSEMBL:ENSP00000340465", "ENSEMBL:ENSP00000340465.3", "ENSEMBL:ENSP00000427756", "ENSEMBL:ENSP00000427756.2", "ENSEMBL:ENSP00000429712", "ENSEMBL:ENSP00000429712.1", "ENSEMBL:ENSP00000429754", "ENSEMBL:ENSP00000429754.1", "ENSEMBL:ENSP00000430166", "ENSEMBL:ENSP00000430166.2", "ENSEMBL:ENSP00000430462", "ENSEMBL:ENSP00000430462.2", "ENSEMBL:ENSP00000519279", "ENSEMBL:ENSP00000519279.1", "UMLS:C1143502", "MESH:C493589"], "information_content": 89.4}
{"id": "UniProtKB:Q6ZSG2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inhibitory synaptic factor 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZSG2-1", "PR:Q6ZSG2-1", "ENSEMBL:ENSP00000429763", "ENSEMBL:ENSP00000429763.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5H8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin alpha-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5H8-1", "PR:Q9Y5H8-1", "ENSEMBL:ENSP00000429808", "ENSEMBL:ENSP00000429808.2", "ENSEMBL:ENSP00000517143", "ENSEMBL:ENSP00000517143.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14677-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "clathrin interactor 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q14677-3", "PR:Q14677-3", "ENSEMBL:ENSP00000429824", "ENSEMBL:ENSP00000429824.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5G8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-A5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5G8-1", "PR:Q9Y5G8-1", "ENSEMBL:ENSP00000429834", "ENSEMBL:ENSP00000429834.1"], "information_content": 100.0}
{"id": "NCBIGene:100533496", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TVP23C-CDRT4", "equivalent_identifiers": ["NCBIGene:100533496", "ENSEMBL:ENSG00000259024", "HGNC:42961", "UMLS:C3543044", "UniProtKB:A0A0A6YYB9", "ENSEMBL:ENSP00000429865"]}
{"id": "UniProtKB:Q9ULH1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULH1-1", "PR:Q9ULH1-1", "ENSEMBL:ENSP00000429900", "ENSEMBL:ENSP00000429900.1"], "information_content": 100.0}
{"id": "NCBIGene:8667", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF3H", "equivalent_identifiers": ["NCBIGene:8667", "ENSEMBL:ENSG00000147677", "HGNC:3273", "OMIM:603912", "UMLS:C1414340", "UniProtKB:O15372", "PR:O15372", "ENSEMBL:ENSP00000429931", "ENSEMBL:ENSP00000429931.1", "UniProtKB:Q6IB98"], "information_content": 92.8}
{"id": "UniProtKB:Q9NPA8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription and mRNA export factor ENY2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPA8-1", "PR:Q9NPA8-1", "ENSEMBL:ENSP00000429986", "ENSEMBL:ENSP00000429986.1"], "information_content": 100.0}
{"id": "NCBIGene:90139", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPAN18", "equivalent_identifiers": ["NCBIGene:90139", "ENSEMBL:ENSG00000157570", "HGNC:20660", "OMIM:619399", "UMLS:C1540098", "UniProtKB:Q96SJ8", "PR:Q96SJ8", "ENSEMBL:ENSP00000339820", "ENSEMBL:ENSP00000339820.3", "ENSEMBL:ENSP00000429993", "ENSEMBL:ENSP00000429993.2", "UMLS:C3180303", "MESH:C556852"], "information_content": 95.4}
{"id": "NCBIGene:552889", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATXN7L3B", "equivalent_identifiers": ["NCBIGene:552889", "ENSEMBL:ENSG00000253719", "HGNC:37931", "OMIM:615579", "UMLS:C2828823", "UniProtKB:Q96GX2", "PR:Q96GX2", "ENSEMBL:ENSP00000430000", "ENSEMBL:ENSP00000430000.2", "UMLS:C4507524", "MESH:C000620273"], "information_content": 92.8}
{"id": "NCBIGene:57226", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LYRM2", "equivalent_identifiers": ["NCBIGene:57226", "ENSEMBL:ENSG00000083099", "HGNC:25229", "UMLS:C1825923", "UniProtKB:Q9NU23", "PR:Q9NU23", "ENSEMBL:ENSP00000430025", "ENSEMBL:ENSP00000430025.1", "UMLS:C5391600", "MESH:C000706569"], "information_content": 100.0}
{"id": "MONDO:0015003", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MEPAN syndrome", "equivalent_identifiers": ["MONDO:0015003", "DOID:0081419", "OMIM:617282", "orphanet:508093", "UMLS:C4310634", "SNOMEDCT:1236805005", "medgen:934601"], "information_content": 100.0}
{"id": "MONDO:0014132", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "multiple mitochondrial dysfunctions syndrome 3", "equivalent_identifiers": ["MONDO:0014132", "DOID:0080135", "OMIM:615330", "orphanet:363424", "UMLS:C3809165", "NCIT:C202608", "SNOMEDCT:1208620009", "medgen:815495"], "information_content": 100.0}
{"id": "NCBIGene:114112", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TXNRD3", "equivalent_identifiers": ["NCBIGene:114112", "ENSEMBL:ENSG00000197763", "HGNC:20667", "OMIM:606235", "UMLS:C1427067", "UniProtKB:B4DRZ5", "UMLS:C1569095", "MESH:C500519", "UniProtKB:Q86VQ6", "PR:Q86VQ6", "ENSEMBL:ENSP00000430031", "ENSEMBL:ENSP00000430031.4"], "information_content": 100.0}
{"id": "MONDO:0015484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cysticercosis", "equivalent_identifiers": ["MONDO:0015484", "DOID:10079", "orphanet:1560", "EFO:0007231", "UMLS:C0010678", "MESH:D003551", "MEDDRA:10011757", "MEDDRA:10011775", "NCIT:C34520", "SNOMEDCT:105684008", "SNOMEDCT:59051007", "medgen:4122", "icd11.foundation:1324863907", "ICD10:B69", "ICD9:123.1"], "information_content": 100.0}
{"id": "NCBIGene:168975", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNBD1", "equivalent_identifiers": ["NCBIGene:168975", "ENSEMBL:ENSG00000176571", "HGNC:26663", "UMLS:C1824762", "UniProtKB:Q8NA66", "PR:Q8NA66", "ENSEMBL:ENSP00000430073", "ENSEMBL:ENSP00000430073.1", "UMLS:C4553383"], "information_content": 100.0}
{"id": "UniProtKB:P23109-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AMP deaminase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P23109-1", "PR:P23109-1", "ENSEMBL:ENSP00000430075", "ENSEMBL:ENSP00000430075.3"], "information_content": 100.0}
{"id": "MONDO:0009295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease VII", "equivalent_identifiers": ["MONDO:0009295", "DOID:11721", "OMIM:232800", "orphanet:371", "UMLS:C0017926", "MESH:D006014", "MEDDRA:10053241", "MEDDRA:10053252", "MEDDRA:10053255", "NCIT:C118437", "SNOMEDCT:89597008", "medgen:5342", "ICD10:E74.09"], "information_content": 100.0}
{"id": "NCBIGene:2568", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABRP", "equivalent_identifiers": ["NCBIGene:2568", "ENSEMBL:ENSG00000094755", "HGNC:4089", "OMIM:602729", "UMLS:C1414922", "UniProtKB:B4DTP4", "UMLS:C1957053", "MESH:C519780", "UniProtKB:E7EWG0", "ENSEMBL:ENSP00000430727", "ENSEMBL:ENSP00000430727.1", "UniProtKB:O00591", "PR:O00591", "ENSEMBL:ENSP00000265294", "ENSEMBL:ENSP00000265294.4", "ENSEMBL:ENSP00000430100", "ENSEMBL:ENSP00000430100.1"], "information_content": 92.8}
{"id": "UniProtKB:Q6NT76-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox-containing protein 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q6NT76-5", "PR:Q6NT76-5", "ENSEMBL:ENSP00000430110", "ENSEMBL:ENSP00000430110.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86SE5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding Raly-like protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q86SE5-3", "PR:Q86SE5-3", "ENSEMBL:ENSP00000430128", "ENSEMBL:ENSP00000430128.1"], "information_content": 100.0}
{"id": "NCBIGene:440138", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALG11", "equivalent_identifiers": ["NCBIGene:440138", "ENSEMBL:ENSG00000253710", "HGNC:32456", "OMIM:613666", "UMLS:C1876205", "UniProtKB:Q2TAA5", "PR:Q2TAA5", "ENSEMBL:ENSP00000430236", "ENSEMBL:ENSP00000430236.1", "UMLS:C2975433", "MESH:C552163"], "information_content": 86.3}
{"id": "UniProtKB:Q86XS8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF130 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XS8-1", "PR:Q86XS8-1", "ENSEMBL:ENSP00000430237", "ENSEMBL:ENSP00000430237.1"], "information_content": 100.0}
{"id": "MONDO:0016705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "angiocentric glioma", "equivalent_identifiers": ["MONDO:0016705", "DOID:0081261", "orphanet:251671", "UMLS:C2363903", "MEDDRA:10068603", "MEDDRA:10068604", "MEDDRA:10073129", "NCIT:C92552", "SNOMEDCT:450900009", "medgen:453267"], "information_content": 90.9}
{"id": "UniProtKB:Q9HAK2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor COE2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAK2-1", "PR:Q9HAK2-1", "ENSEMBL:ENSP00000430241", "ENSEMBL:ENSP00000430241.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWP8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "suprabasin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWP8-1", "PR:Q6UWP8-1", "ENSEMBL:ENSP00000430242", "ENSEMBL:ENSP00000430242.1"], "information_content": 100.0}
{"id": "UniProtKB:P34913-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional epoxide hydrolase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P34913-1", "PR:P34913-1", "ENSEMBL:ENSP00000430269", "ENSEMBL:ENSP00000430269.1"], "information_content": 100.0}
{"id": "MONDO:0019168", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyomyositis", "equivalent_identifiers": ["MONDO:0019168", "DOID:876", "orphanet:764", "EFO:1001409", "UMLS:C0041188", "UMLS:C1704275", "MESH:D052880", "MEDDRA:10037652", "MEDDRA:10044695", "NCIT:C128382", "SNOMEDCT:65110003", "medgen:52862", "icd11.foundation:856598467", "ICD10:M60.0", "ICD9:040.81"], "information_content": 100.0}
{"id": "NCBIGene:440695", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ETV3L", "equivalent_identifiers": ["NCBIGene:440695", "ENSEMBL:ENSG00000253831", "HGNC:33834", "OMIM:621105", "UMLS:C2239391", "UniProtKB:Q6ZN32", "PR:Q6ZN32", "ENSEMBL:ENSP00000430271", "ENSEMBL:ENSP00000430271.1", "ENSEMBL:ENSP00000500028", "ENSEMBL:ENSP00000500028.1", "ENSEMBL:ENSP00000500154", "ENSEMBL:ENSP00000500154.1", "ENSEMBL:ENSP00000500322", "ENSEMBL:ENSP00000500322.1"], "information_content": 100.0}
{"id": "UniProtKB:P10911-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proto-oncogene DBL isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P10911-5", "PR:P10911-5", "ENSEMBL:ENSP00000430276", "ENSEMBL:ENSP00000430276.1"], "information_content": 100.0}
{"id": "MONDO:0012531", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum group B", "equivalent_identifiers": ["MONDO:0012531", "DOID:0110850", "OMIM:610651", "UMLS:C0268136", "UMLS:C1970808", "MESH:C562590", "MESH:C567061", "NCIT:C3966", "SNOMEDCT:1073003", "medgen:78643"], "information_content": 92.8}
{"id": "NCBIGene:528", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP6V1C1", "equivalent_identifiers": ["NCBIGene:528", "ENSEMBL:ENSG00000155097", "HGNC:856", "OMIM:603097", "UMLS:C1412676", "UniProtKB:A0A024R9I0", "UMLS:C3179619", "MESH:C555946", "UniProtKB:P21283", "PR:P21283", "ENSEMBL:ENSP00000379203", "ENSEMBL:ENSP00000379203.3", "ENSEMBL:ENSP00000430282", "ENSEMBL:ENSP00000430282.1"], "information_content": 90.9}
{"id": "UniProtKB:Q86YL5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis development-related protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86YL5-2", "PR:Q86YL5-2", "ENSEMBL:ENSP00000430325", "ENSEMBL:ENSP00000430325.1"], "information_content": 100.0}
{"id": "UniProtKB:Q75QN2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrator complex subunit 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q75QN2-1", "PR:Q75QN2-1", "ENSEMBL:ENSP00000430338", "ENSEMBL:ENSP00000430338.1"], "information_content": 100.0}
{"id": "UniProtKB:P51178-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P51178-2", "PR:P51178-2", "ENSEMBL:ENSP00000430344", "ENSEMBL:ENSP00000430344.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92769-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone deacetylase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92769-1", "PR:Q92769-1", "ENSEMBL:ENSP00000430432", "ENSEMBL:ENSP00000430432.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UFF9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCR4-NOT transcription complex subunit 8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UFF9-1", "PR:Q9UFF9-1", "ENSEMBL:ENSP00000285896", "ENSEMBL:ENSP00000285896.6", "ENSEMBL:ENSP00000384747", "ENSEMBL:ENSP00000384747.2", "ENSEMBL:ENSP00000430493", "ENSEMBL:ENSP00000430493.1"], "information_content": 100.0}
{"id": "UniProtKB:P14927-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome b-c1 complex subunit 7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P14927-2", "PR:P14927-2", "ENSEMBL:ENSP00000430494", "ENSEMBL:ENSP00000430494.1"], "information_content": 100.0}
{"id": "UniProtKB:P48651-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylserine synthase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48651-1", "PR:P48651-1", "ENSEMBL:ENSP00000430548", "ENSEMBL:ENSP00000430548.1"], "information_content": 100.0}
{"id": "NCBIGene:475", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATOX1", "equivalent_identifiers": ["NCBIGene:475", "ENSEMBL:ENSG00000177556", "HGNC:798", "OMIM:602270", "UMLS:C1412627", "UniProtKB:O00244", "PR:O00244", "ENSEMBL:ENSP00000316854", "ENSEMBL:ENSP00000316854.6", "ENSEMBL:ENSP00000429814", "ENSEMBL:ENSP00000429814.1", "ENSEMBL:ENSP00000430598", "ENSEMBL:ENSP00000430598.1", "UMLS:C1258750", "MESH:C474500"], "information_content": 83.6}
{"id": "UniProtKB:Q9BQS7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hephaestin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQS7-1", "PR:Q9BQS7-1", "ENSEMBL:ENSP00000343939", "ENSEMBL:ENSP00000343939.2", "ENSEMBL:ENSP00000430620", "ENSEMBL:ENSP00000430620.2"], "information_content": 100.0}
{"id": "NCBIGene:759", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CA1", "equivalent_identifiers": ["NCBIGene:759", "ENSEMBL:ENSG00000133742", "HGNC:1368", "OMIM:114800", "UMLS:C1413038", "UniProtKB:P00915", "PR:P00915", "ENSEMBL:ENSP00000392338", "ENSEMBL:ENSP00000392338.1", "ENSEMBL:ENSP00000429798", "ENSEMBL:ENSP00000429798.1", "ENSEMBL:ENSP00000430656", "ENSEMBL:ENSP00000430656.1", "ENSEMBL:ENSP00000443517", "ENSEMBL:ENSP00000443517.1", "UMLS:C5575283", "UniProtKB:V9HWE3"], "information_content": 84.8}
{"id": "UniProtKB:O14920-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inhibitor of nuclear factor kappa-B kinase subunit beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14920-1", "PR:O14920-1", "ENSEMBL:ENSP00000430684", "ENSEMBL:ENSP00000430684.1"], "information_content": 100.0}
{"id": "NCBIGene:7033", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TFF3", "equivalent_identifiers": ["NCBIGene:7033", "ENSEMBL:ENSG00000160180", "HGNC:11757", "OMIM:600633", "UMLS:C1420702", "UniProtKB:Q07654", "PR:Q07654", "ENSEMBL:ENSP00000430690", "ENSEMBL:ENSP00000430690.2", "UMLS:C0660409", "MESH:C082495"], "information_content": 88.2}
{"id": "MONDO:0012940", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "inflammatory bowel disease 24", "equivalent_identifiers": ["MONDO:0012940", "DOID:0110908", "OMIM:612566", "UMLS:C2675509", "MESH:C567252", "medgen:393404"], "information_content": 100.0}
{"id": "NCBIGene:143244", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF5AL1", "equivalent_identifiers": ["NCBIGene:143244", "ENSEMBL:ENSG00000253626", "HGNC:17419", "UMLS:C1539350", "UniProtKB:Q6IS14", "PR:Q6IS14", "ENSEMBL:ENSP00000430706", "ENSEMBL:ENSP00000430706.2"], "information_content": 95.4}
{"id": "NCBIGene:7201", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRHR", "equivalent_identifiers": ["NCBIGene:7201", "ENSEMBL:ENSG00000174417", "HGNC:12299", "OMIM:188545", "UMLS:C1442761", "UniProtKB:P34981", "PR:P34981", "ENSEMBL:ENSP00000309818", "ENSEMBL:ENSP00000309818.2", "ENSEMBL:ENSP00000430711", "ENSEMBL:ENSP00000430711.2"], "information_content": 100.0}
{"id": "NCBIGene:644994", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM23", "equivalent_identifiers": ["NCBIGene:644994", "ENSEMBL:ENSG00000185662", "HGNC:34440", "UMLS:C2681235", "UniProtKB:A6NLE4", "PR:A6NLE4", "ENSEMBL:ENSP00000430818", "ENSEMBL:ENSP00000430818.4", "ENSEMBL:ENSP00000490990", "ENSEMBL:ENSP00000490990.1"], "information_content": 100.0}
{"id": "NCBIGene:9312", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNB2", "equivalent_identifiers": ["NCBIGene:9312", "ENSEMBL:ENSG00000182674", "HGNC:6232", "OMIM:607738", "UMLS:C1416555", "UniProtKB:Q92953", "PR:Q92953", "ENSEMBL:ENSP00000430846", "ENSEMBL:ENSP00000430846.1", "UMLS:C1566225", "MESH:C496992"], "information_content": 92.8}
{"id": "NCBIGene:728888", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPIPB11", "equivalent_identifiers": ["NCBIGene:728888", "ENSEMBL:ENSG00000254206", "HGNC:37453", "UMLS:C3812026", "UniProtKB:E5RHQ5", "PR:E5RHQ5", "ENSEMBL:ENSP00000430853", "ENSEMBL:ENSP00000430853.1", "ENSEMBL:ENSP00000513761", "ENSEMBL:ENSP00000513761.1"], "information_content": 95.4}
{"id": "NCBIGene:151306", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPBAR1", "equivalent_identifiers": ["NCBIGene:151306", "ENSEMBL:ENSG00000179921", "HGNC:19680", "OMIM:610147", "UMLS:C1426330", "UniProtKB:Q8TDU6", "PR:Q8TDU6", "ENSEMBL:ENSP00000428824", "ENSEMBL:ENSP00000428824.1", "ENSEMBL:ENSP00000430202", "ENSEMBL:ENSP00000430202.1", "ENSEMBL:ENSP00000430698", "ENSEMBL:ENSP00000430698.1", "ENSEMBL:ENSP00000430886", "ENSEMBL:ENSP00000430886.1", "UMLS:C1176264", "MESH:C473772"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9Z2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 71L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9Z2-1", "PR:Q8N9Z2-1", "ENSEMBL:ENSP00000430897", "ENSEMBL:ENSP00000430897.2"], "information_content": 100.0}
{"id": "NCBIGene:149466", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1orf210", "equivalent_identifiers": ["NCBIGene:149466", "ENSEMBL:ENSG00000253313", "HGNC:28755", "OMIM:620582", "UMLS:C1823816", "UniProtKB:Q8IVY1", "PR:Q8IVY1", "ENSEMBL:ENSP00000429399", "ENSEMBL:ENSP00000429399.1", "ENSEMBL:ENSP00000430918", "ENSEMBL:ENSP00000430918.1"], "information_content": 90.9}
{"id": "NCBIGene:127540", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMGB4", "equivalent_identifiers": ["NCBIGene:127540", "ENSEMBL:ENSG00000176256", "HGNC:24954", "OMIM:617285", "UMLS:C1825515", "UniProtKB:Q8WW32", "PR:Q8WW32", "ENSEMBL:ENSP00000429214", "ENSEMBL:ENSP00000429214.1", "ENSEMBL:ENSP00000430919", "ENSEMBL:ENSP00000430919.1", "ENSEMBL:ENSP00000505691", "ENSEMBL:ENSP00000505691.1"], "information_content": 100.0}
{"id": "NCBIGene:575", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADGRB1", "equivalent_identifiers": ["NCBIGene:575", "ENSEMBL:ENSG00000181790", "HGNC:943", "OMIM:602682", "UMLS:C1332374", "UniProtKB:A0A2R8Y5M7", "ENSEMBL:ENSP00000494563", "ENSEMBL:ENSP00000494563.1", "UniProtKB:O14514", "PR:O14514", "ENSEMBL:ENSP00000430945", "ENSEMBL:ENSP00000430945.1", "UMLS:C1171567", "UMLS:C1332603", "MESH:C468226"], "information_content": 95.4}
{"id": "UniProtKB:Q9ULV5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heat shock factor protein 4 isoform hHSF4B (human)", "equivalent_identifiers": ["UniProtKB:Q9ULV5-1", "PR:Q9ULV5-1", "ENSEMBL:ENSP00000430947", "ENSEMBL:ENSP00000430947.2"], "information_content": 100.0}
{"id": "NCBIGene:3620", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IDO1", "equivalent_identifiers": ["NCBIGene:3620", "ENSEMBL:ENSG00000131203", "HGNC:6059", "OMIM:147435", "UMLS:C1416433", "UniProtKB:A0A348GSI3", "UMLS:C3529891", "MESH:C576710", "UniProtKB:P14902", "PR:P14902", "ENSEMBL:ENSP00000430505", "ENSEMBL:ENSP00000430505.1", "ENSEMBL:ENSP00000430950", "ENSEMBL:ENSP00000430950.1", "UMLS:C3887958"], "information_content": 92.8}
{"id": "NCBIGene:195814", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SDR16C5", "equivalent_identifiers": ["NCBIGene:195814", "ENSEMBL:ENSG00000170786", "HGNC:30311", "OMIM:608989", "UMLS:C1837013", "UniProtKB:B3KT84", "UMLS:C1172455", "MESH:C468778", "UniProtKB:G3V145", "ENSEMBL:ENSP00000431010", "ENSEMBL:ENSP00000431010.1", "UniProtKB:Q8N3Y7", "PR:Q8N3Y7"]}
{"id": "UniProtKB:O15013-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 10 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15013-6", "PR:O15013-6", "ENSEMBL:ENSP00000431012", "ENSEMBL:ENSP00000431012.1", "ENSEMBL:ENSP00000488463", "ENSEMBL:ENSP00000488463.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWU5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein uL22m isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWU5-1", "PR:Q9NWU5-1", "ENSEMBL:ENSP00000431040", "ENSEMBL:ENSP00000431040.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2Q3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione S-transferase kappa 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2Q3-2", "PR:Q9Y2Q3-2", "ENSEMBL:ENSP00000431049", "ENSEMBL:ENSP00000431049.1"], "information_content": 100.0}
{"id": "NCBIGene:23549", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNPEP", "equivalent_identifiers": ["NCBIGene:23549", "ENSEMBL:ENSG00000123992", "HGNC:2981", "OMIM:611367", "UMLS:C1414125", "UniProtKB:B7Z7F0", "UniProtKB:E5RIA4", "ENSEMBL:ENSP00000429468", "ENSEMBL:ENSP00000429468.2", "UniProtKB:E7ETB3", "ENSEMBL:ENSP00000431076", "ENSEMBL:ENSP00000431076.1", "UniProtKB:Q9ULA0", "PR:Q9ULA0"]}
{"id": "UniProtKB:Q9Y5H4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-A1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5H4-1", "PR:Q9Y5H4-1", "ENSEMBL:ENSP00000431083", "ENSEMBL:ENSP00000431083.1"], "information_content": 100.0}
{"id": "NCBIGene:114902", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1QTNF5", "equivalent_identifiers": ["NCBIGene:114902", "ENSEMBL:ENSG00000223953", "HGNC:14344", "OMIM:608752", "UMLS:C1422581", "UniProtKB:Q9BXJ0", "PR:Q9BXJ0", "ENSEMBL:ENSP00000431140", "ENSEMBL:ENSP00000431140.1", "ENSEMBL:ENSP00000456533", "ENSEMBL:ENSP00000456533.2"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y6B2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EP300-interacting inhibitor of differentiation 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6B2-1", "PR:Q9Y6B2-1", "ENSEMBL:ENSP00000431162", "ENSEMBL:ENSP00000431162.2"], "information_content": 100.0}
{"id": "UniProtKB:E9PMD0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E9PMD0_HUMAN Uncharacterized protein (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:E9PMD0", "ENSEMBL:ENSP00000431165", "ENSEMBL:ENSP00000431165.1"]}
{"id": "MONDO:0003822", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-invasive bladder papillary urothelial neoplasm", "equivalent_identifiers": ["MONDO:0003822", "DOID:6239", "UMLS:C1266010", "UMLS:C1518358", "NCIT:C27884", "NCIT:C39831", "SNOMEDCT:128625004", "medgen:309424"], "information_content": 84.8}
{"id": "UniProtKB:Q9BSF8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein 10 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSF8-2", "PR:Q9BSF8-2", "ENSEMBL:ENSP00000431186", "ENSEMBL:ENSP00000431186.1"], "information_content": 100.0}
{"id": "NCBIGene:25850", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF345", "equivalent_identifiers": ["NCBIGene:25850", "ENSEMBL:ENSG00000251247", "HGNC:16367", "OMIM:621272", "UMLS:C1424220", "UniProtKB:B2RCE4", "UniProtKB:Q14585", "PR:Q14585", "ENSEMBL:ENSP00000331120", "ENSEMBL:ENSP00000331120.5", "ENSEMBL:ENSP00000431202", "ENSEMBL:ENSP00000431202.1", "ENSEMBL:ENSP00000431216", "ENSEMBL:ENSP00000431216.1", "ENSEMBL:ENSP00000431289", "ENSEMBL:ENSP00000431289.2", "ENSEMBL:ENSP00000465431", "ENSEMBL:ENSP00000465431.1"], "information_content": 100.0}
{"id": "NCBIGene:6181", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPLP2", "equivalent_identifiers": ["NCBIGene:6181", "ENSEMBL:ENSG00000177600", "HGNC:10377", "OMIM:180530", "UMLS:C1419693", "UniProtKB:P05387", "PR:P05387", "ENSEMBL:ENSP00000322419", "ENSEMBL:ENSP00000322419.4", "ENSEMBL:ENSP00000431240", "ENSEMBL:ENSP00000431240.1", "ENSEMBL:ENSP00000520682", "ENSEMBL:ENSP00000520682.1", "UMLS:C1612280"], "information_content": 95.4}
{"id": "UniProtKB:B9A064-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "immunoglobulin lambda-like polypeptide 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:B9A064-1", "PR:B9A064-1", "ENSEMBL:ENSP00000431254", "ENSEMBL:ENSP00000431254.1"], "information_content": 100.0}
{"id": "NCBIGene:284406", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFP82", "equivalent_identifiers": ["NCBIGene:284406", "ENSEMBL:ENSG00000181007", "HGNC:28682", "UMLS:C1428735", "UniProtKB:D3Y299", "UMLS:C3657718", "MESH:C579466", "UniProtKB:Q8N141", "PR:Q8N141", "ENSEMBL:ENSP00000431265", "ENSEMBL:ENSP00000431265.1"], "information_content": 100.0}
{"id": "UniProtKB:O60711-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leupaxin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60711-2", "PR:O60711-2", "ENSEMBL:ENSP00000431284", "ENSEMBL:ENSP00000431284.1"], "information_content": 100.0}
{"id": "NCBIGene:751071", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSKMT", "equivalent_identifiers": ["NCBIGene:751071", "ENSEMBL:ENSG00000214756", "HGNC:33113", "OMIM:617897", "UMLS:C2681659", "UniProtKB:A8MUP2", "PR:A8MUP2", "ENSEMBL:ENSP00000431287", "ENSEMBL:ENSP00000431287.1", "UMLS:C4548838", "MESH:C000622695"], "information_content": 100.0}
{"id": "UniProtKB:Q9BZZ5-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptosis inhibitor 5 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZZ5-4", "PR:Q9BZZ5-4", "ENSEMBL:ENSP00000431391", "ENSEMBL:ENSP00000431391.1"], "information_content": 100.0}
{"id": "UniProtKB:P04629-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "high affinity nerve growth factor receptor isoform TrkA-II (human)", "equivalent_identifiers": ["UniProtKB:P04629-1", "PR:P04629-1", "ENSEMBL:ENSP00000431418", "ENSEMBL:ENSP00000431418.1"], "information_content": 95.4}
{"id": "NCBIGene:917", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD3G", "equivalent_identifiers": ["NCBIGene:917", "ENSEMBL:ENSG00000160654", "HGNC:1675", "OMIM:186740", "UMLS:C1413223", "UniProtKB:B0YIY5", "UniProtKB:P09693", "PR:P09693", "ENSEMBL:ENSP00000431445", "ENSEMBL:ENSP00000431445.2", "UMLS:C1515134"], "information_content": 88.2}
{"id": "UniProtKB:Q8N5H3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine repeat adapter protein 25 isoform 3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N5H3-3", "PR:Q8N5H3-3", "ENSEMBL:ENSP00000431459", "ENSEMBL:ENSP00000431459.1"], "information_content": 100.0}
{"id": "UniProtKB:Q00613-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heat shock factor protein 1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q00613-1", "PR:Q00613-1", "ENSEMBL:ENSP00000431512", "ENSEMBL:ENSP00000431512.1", "ENSEMBL:ENSP00000493830", "ENSEMBL:ENSP00000493830.1"], "information_content": 92.8}
{"id": "NCBIGene:84866", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM25", "equivalent_identifiers": ["NCBIGene:84866", "ENSEMBL:ENSG00000149582", "HGNC:25890", "OMIM:613934", "UMLS:C1539994", "UniProtKB:B7Z1M8", "UMLS:C3656955", "MESH:C582970", "UniProtKB:E9PKP3", "ENSEMBL:ENSP00000431548", "ENSEMBL:ENSP00000431548.1", "UniProtKB:Q86YD3", "PR:Q86YD3"]}
{"id": "UniProtKB:P09086-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POU domain, class 2, transcription factor 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P09086-1", "PR:P09086-1", "ENSEMBL:ENSP00000431603", "ENSEMBL:ENSP00000431603.3"], "information_content": 100.0}
{"id": "NCBIGene:259289", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R43", "equivalent_identifiers": ["NCBIGene:259289", "ENSEMBL:ENSG00000255374", "HGNC:18875", "OMIM:612668", "UMLS:C1425845", "UniProtKB:P59537", "PR:P59537", "ENSEMBL:ENSP00000431719", "ENSEMBL:ENSP00000431719.1", "ENSEMBL:ENSP00000458723", "ENSEMBL:ENSP00000458723.1", "UMLS:C1569795", "MESH:C000730097"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5H9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin alpha-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5H9-1", "PR:Q9Y5H9-1", "ENSEMBL:ENSP00000431748", "ENSEMBL:ENSP00000431748.1", "ENSEMBL:ENSP00000517140", "ENSEMBL:ENSP00000517140.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96N23-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 54 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96N23-1", "PR:Q96N23-1", "ENSEMBL:ENSP00000431759", "ENSEMBL:ENSP00000431759.5"], "information_content": 100.0}
{"id": "UniProtKB:P24001-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-32 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P24001-1", "PR:P24001-1", "ENSEMBL:ENSP00000380099", "ENSEMBL:ENSP00000380099.2", "ENSEMBL:ENSP00000431775", "ENSEMBL:ENSP00000431775.1", "ENSEMBL:ENSP00000449483", "ENSEMBL:ENSP00000449483.1"], "information_content": 100.0}
{"id": "NCBIGene:8665", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF3F", "equivalent_identifiers": ["NCBIGene:8665", "ENSEMBL:ENSG00000175390", "HGNC:3275", "OMIM:603914", "UMLS:C1414342", "UniProtKB:O00303", "PR:O00303", "ENSEMBL:ENSP00000431800", "ENSEMBL:ENSP00000431800.1", "ENSEMBL:ENSP00000499218", "ENSEMBL:ENSP00000499218.1", "UMLS:C3712624", "MESH:C584155"], "information_content": 86.3}
{"id": "UniProtKB:P50461-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine and glycine-rich protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50461-1", "PR:P50461-1", "ENSEMBL:ENSP00000265968", "ENSEMBL:ENSP00000265968.3", "ENSEMBL:ENSP00000431813", "ENSEMBL:ENSP00000431813.1", "ENSEMBL:ENSP00000497388", "ENSEMBL:ENSP00000497388.1"], "information_content": 100.0}
{"id": "UniProtKB:E9PJI5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NPIA7_HUMAN Nuclear pore complex-interacting protein family member A7 (sprot)", "equivalent_identifiers": ["UniProtKB:E9PJI5", "PR:E9PJI5", "ENSEMBL:ENSP00000431814", "ENSEMBL:ENSP00000431814.2", "ENSEMBL:ENSP00000479584", "ENSEMBL:ENSP00000479584.1"], "information_content": 100.0}
{"id": "NCBIGene:2197", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAU", "equivalent_identifiers": ["NCBIGene:2197", "ENSEMBL:ENSG00000149806", "HGNC:3597", "OMIM:134690", "UMLS:C1414536", "UniProtKB:P62861", "PR:P62861", "ENSEMBL:ENSP00000431822", "ENSEMBL:ENSP00000431822.1", "ENSEMBL:ENSP00000434440", "ENSEMBL:ENSP00000434440.1", "ENSEMBL:ENSP00000435370", "ENSEMBL:ENSP00000435370.1", "UMLS:C1447183", "MESH:C076845"], "information_content": 89.4}
{"id": "UniProtKB:Q8NFF2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/potassium/calcium exchanger 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFF2-1", "PR:Q8NFF2-1", "ENSEMBL:ENSP00000431840", "ENSEMBL:ENSP00000431840.1", "ENSEMBL:ENSP00000502715", "ENSEMBL:ENSP00000502715.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2H5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 35 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2H5-1", "PR:Q9P2H5-1", "ENSEMBL:ENSP00000431876", "ENSEMBL:ENSP00000431876.1"], "information_content": 100.0}
{"id": "NCBIGene:7297", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TYK2", "equivalent_identifiers": ["NCBIGene:7297", "ENSEMBL:ENSG00000105397", "HGNC:12440", "OMIM:176941", "UMLS:C1421249", "UniProtKB:A0A8V8TN50", "ENSEMBL:ENSP00000514329", "ENSEMBL:ENSP00000514329.1", "UniProtKB:A0A8V8TPX5", "ENSEMBL:ENSP00000514328", "ENSEMBL:ENSP00000514328.1", "UniProtKB:H0YCT7", "ENSEMBL:ENSP00000432320", "ENSEMBL:ENSP00000432320.2", "UniProtKB:H0YE24", "ENSEMBL:ENSP00000434831", "ENSEMBL:ENSP00000434831.2", "UniProtKB:P29597", "PR:P29597", "ENSEMBL:ENSP00000431885", "ENSEMBL:ENSP00000431885.1", "ENSEMBL:ENSP00000436175", "ENSEMBL:ENSP00000436175.2", "UMLS:C1448662", "MESH:C070139"], "information_content": 82.6}
{"id": "UniProtKB:Q9C0C7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "activating molecule in BECN1-regulated autophagy protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0C7-2", "PR:Q9C0C7-2", "ENSEMBL:ENSP00000431926", "ENSEMBL:ENSP00000431926.1"], "information_content": 100.0}
{"id": "UniProtKB:E9PIW9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E9PIW9_HUMAN Sterile alpha motif domain containing 1 (trembl)", "equivalent_identifiers": ["UniProtKB:E9PIW9", "ENSEMBL:ENSP00000431971", "ENSEMBL:ENSP00000431971.2"]}
{"id": "MONDO:0030027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tremor, hereditary essential, 6", "equivalent_identifiers": ["MONDO:0030027", "DOID:0081295", "OMIM:618866", "UMLS:C5394329", "medgen:1711112"], "information_content": 100.0}
{"id": "MONDO:0011974", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 7", "equivalent_identifiers": ["MONDO:0011974", "DOID:0110383", "OMIM:608133", "UMLS:C1842475", "UMLS:C2675552", "UMLS:C4013102", "MESH:C564284", "MESH:C567263", "medgen:334168"], "information_content": 100.0}
{"id": "NCBIGene:143662", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUC15", "equivalent_identifiers": ["NCBIGene:143662", "ENSEMBL:ENSG00000169550", "HGNC:14956", "OMIM:608566", "UMLS:C1423085", "UniProtKB:A0A0A0MT67", "ENSEMBL:ENSP00000416753", "ENSEMBL:ENSP00000416753.2", "ENSEMBL:ENSP00000431983", "ENSEMBL:ENSP00000431983.1", "UMLS:C1137808", "MESH:C460499", "UniProtKB:A0A0A0MTD6", "ENSEMBL:ENSP00000281268", "ENSEMBL:ENSP00000281268.8", "ENSEMBL:ENSP00000431945", "ENSEMBL:ENSP00000431945.1", "UniProtKB:Q8N387", "PR:Q8N387"]}
{"id": "NCBIGene:823", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAPN1", "equivalent_identifiers": ["NCBIGene:823", "ENSEMBL:ENSG00000014216", "HGNC:1476", "OMIM:114220", "UMLS:C1413109", "UniProtKB:B2RDI5", "UniProtKB:B4DWH5", "UniProtKB:P07384", "PR:P07384", "ENSEMBL:ENSP00000279247", "ENSEMBL:ENSP00000279247.7", "ENSEMBL:ENSP00000431686", "ENSEMBL:ENSP00000431686.1", "ENSEMBL:ENSP00000431984", "ENSEMBL:ENSP00000431984.1", "ENSEMBL:ENSP00000434176", "ENSEMBL:ENSP00000434176.1", "ENSEMBL:ENSP00000435272", "ENSEMBL:ENSP00000435272.1", "UMLS:C1436406", "MESH:C484806"], "information_content": 90.9}
{"id": "NCBIGene:255725", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52B2", "equivalent_identifiers": ["NCBIGene:255725", "ENSEMBL:ENSG00000255307", "HGNC:15207", "UMLS:C1423298", "UniProtKB:Q96RD2", "PR:Q96RD2", "ENSEMBL:ENSP00000432011", "ENSEMBL:ENSP00000432011.1"], "information_content": 100.0}
{"id": "NCBIGene:55096", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EBLN2", "equivalent_identifiers": ["NCBIGene:55096", "ENSEMBL:ENSG00000255423", "HGNC:25493", "OMIM:613250", "UMLS:C2750468", "UniProtKB:Q6P2I7", "PR:Q6P2I7", "ENSEMBL:ENSP00000432104", "ENSEMBL:ENSP00000432104.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6RFH5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WD repeat-containing protein 74 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6RFH5-1", "PR:Q6RFH5-1", "ENSEMBL:ENSP00000278856", "ENSEMBL:ENSP00000278856.4", "ENSEMBL:ENSP00000432119", "ENSEMBL:ENSP00000432119.1", "ENSEMBL:ENSP00000435726", "ENSEMBL:ENSP00000435726.1"], "information_content": 100.0}
{"id": "NCBIGene:143879", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KBTBD3", "equivalent_identifiers": ["NCBIGene:143879", "ENSEMBL:ENSG00000182359", "HGNC:22934", "UMLS:C1427790", "UniProtKB:A8K1K0", "UniProtKB:G3V161", "ENSEMBL:ENSP00000431910", "ENSEMBL:ENSP00000431910.1", "UniProtKB:Q8NAB2", "PR:Q8NAB2", "ENSEMBL:ENSP00000432163", "ENSEMBL:ENSP00000432163.1", "ENSEMBL:ENSP00000436262", "ENSEMBL:ENSP00000436262.1"], "information_content": 100.0}
{"id": "NCBIGene:57132", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHMP1B", "equivalent_identifiers": ["NCBIGene:57132", "ENSEMBL:ENSG00000255112", "HGNC:24287", "OMIM:606486", "UMLS:C1538454", "UniProtKB:Q7LBR1", "PR:Q7LBR1", "ENSEMBL:ENSP00000432279", "ENSEMBL:ENSP00000432279.1", "UMLS:C2716604", "MESH:C541483"], "information_content": 95.4}
{"id": "NCBIGene:53340", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPA17", "equivalent_identifiers": ["NCBIGene:53340", "ENSEMBL:ENSG00000064199", "HGNC:11210", "OMIM:608621", "UMLS:C1420335", "UniProtKB:A0A172Q397", "UniProtKB:Q15506", "PR:Q15506", "ENSEMBL:ENSP00000227135", "ENSEMBL:ENSP00000227135.2", "ENSEMBL:ENSP00000432305", "ENSEMBL:ENSP00000432305.1", "UMLS:C1433301", "MESH:C090172"], "information_content": 100.0}
{"id": "NCBIGene:59351", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PBOV1", "equivalent_identifiers": ["NCBIGene:59351", "ENSEMBL:ENSG00000254440", "HGNC:21079", "OMIM:605669", "UMLS:C1427300", "UniProtKB:Q9GZY1", "PR:Q9GZY1", "ENSEMBL:ENSP00000432353", "ENSEMBL:ENSP00000432353.1", "UMLS:C1432058", "MESH:C420220"], "information_content": 95.4}
{"id": "MONDO:0003669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "testis seminoma", "equivalent_identifiers": ["MONDO:0003669", "DOID:5842", "orphanet:842", "EFO:0003101", "UMLS:C5551428", "MEDDRA:10043353", "MEDDRA:10062124", "NCIT:C7328", "medgen:1790467"], "information_content": 84.2}
{"id": "UniProtKB:O75143-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "autophagy-related protein 13 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:O75143-5", "PR:O75143-5", "ENSEMBL:ENSP00000432412", "ENSEMBL:ENSP00000432412.1", "ENSEMBL:ENSP00000507809", "ENSEMBL:ENSP00000507809.1"], "information_content": 100.0}
{"id": "NCBIGene:219487", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5M11", "equivalent_identifiers": ["NCBIGene:219487", "ENSEMBL:ENSG00000255223", "HGNC:15291", "UMLS:C1423376", "UniProtKB:A0A126GVL9", "UniProtKB:Q96RB7", "PR:Q96RB7", "ENSEMBL:ENSP00000432417", "ENSEMBL:ENSP00000432417.2"], "information_content": 100.0}
{"id": "NCBIGene:83873", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR61", "equivalent_identifiers": ["NCBIGene:83873", "ENSEMBL:ENSG00000156097", "HGNC:13300", "OMIM:606916", "UMLS:C1421926", "UniProtKB:G4XH66", "UMLS:C1099735", "MESH:C441470", "UniProtKB:Q9BZJ8", "PR:Q9BZJ8", "ENSEMBL:ENSP00000385422", "ENSEMBL:ENSP00000385422.2", "ENSEMBL:ENSP00000432456", "ENSEMBL:ENSP00000432456.1", "ENSEMBL:ENSP00000433661", "ENSEMBL:ENSP00000433661.1", "ENSEMBL:ENSP00000484035", "ENSEMBL:ENSP00000484035.1", "ENSEMBL:ENSP00000484797", "ENSEMBL:ENSP00000484797.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein BRICK1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUW1-1", "PR:Q8WUW1-1", "ENSEMBL:ENSP00000432472", "ENSEMBL:ENSP00000432472.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3Q0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetylated-alpha-linked acidic dipeptidase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3Q0-1", "PR:Q9Y3Q0-1", "ENSEMBL:ENSP00000432481", "ENSEMBL:ENSP00000432481.1", "ENSEMBL:ENSP00000494766", "ENSEMBL:ENSP00000494766.1"], "information_content": 100.0}
{"id": "NCBIGene:113174", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAAL1", "equivalent_identifiers": ["NCBIGene:113174", "ENSEMBL:ENSG00000166788", "HGNC:25158", "UMLS:C1826965", "UniProtKB:G1UCX3", "UMLS:C3253251", "MESH:C569509", "UniProtKB:Q96ER3", "PR:Q96ER3", "ENSEMBL:ENSP00000432487", "ENSEMBL:ENSP00000432487.1"], "information_content": 89.4}
{"id": "MONDO:0001135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "voyeurism", "equivalent_identifiers": ["MONDO:0001135", "DOID:10834", "UMLS:C0042979", "MESH:D014843", "MEDDRA:10047717", "NCIT:C94360", "SNOMEDCT:63835008", "medgen:12126", "ICD10:F65.3", "ICD9:302.82"], "information_content": 100.0}
{"id": "UniProtKB:O95125-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 202 isoform Beta (human)", "equivalent_identifiers": ["UniProtKB:O95125-1", "PR:O95125-1", "ENSEMBL:ENSP00000337724", "ENSEMBL:ENSP00000337724.4", "ENSEMBL:ENSP00000432504", "ENSEMBL:ENSP00000432504.1", "ENSEMBL:ENSP00000433881", "ENSEMBL:ENSP00000433881.1"], "information_content": 100.0}
{"id": "UniProtKB:P52333-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase JAK3 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P52333-1", "PR:P52333-1", "ENSEMBL:ENSP00000391676", "ENSEMBL:ENSP00000391676.1", "ENSEMBL:ENSP00000432511", "ENSEMBL:ENSP00000432511.1"], "information_content": 100.0}
{"id": "NCBIGene:102288414", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C11orf98", "equivalent_identifiers": ["NCBIGene:102288414", "ENSEMBL:ENSG00000278615", "HGNC:51238", "UMLS:C3890147", "UniProtKB:E9PRG8", "PR:E9PRG8", "ENSEMBL:ENSP00000432523", "ENSEMBL:ENSP00000432523.2", "UMLS:C4508328", "MESH:C000621389"], "information_content": 100.0}
{"id": "NCBIGene:3347", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTN3", "equivalent_identifiers": ["NCBIGene:3347", "ENSEMBL:ENSG00000205649", "HGNC:5284", "OMIM:142702", "UMLS:C1415801", "UniProtKB:P15516", "PR:P15516", "ENSEMBL:ENSP00000432561", "ENSEMBL:ENSP00000432561.1", "ENSEMBL:ENSP00000489520", "ENSEMBL:ENSP00000489520.1", "ENSEMBL:ENSP00000500623", "ENSEMBL:ENSP00000500623.1", "ENSEMBL:ENSP00000500810", "ENSEMBL:ENSP00000500810.1", "UMLS:C2002485", "MESH:C068075"], "information_content": 95.4}
{"id": "UniProtKB:O15020-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spectrin beta chain, non-erythrocytic 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15020-1", "PR:O15020-1", "ENSEMBL:ENSP00000311489", "ENSEMBL:ENSP00000311489.2", "ENSEMBL:ENSP00000432568", "ENSEMBL:ENSP00000432568.1", "ENSEMBL:ENSP00000480692", "ENSEMBL:ENSP00000480692.2", "ENSEMBL:ENSP00000508362", "ENSEMBL:ENSP00000508362.1", "ENSEMBL:ENSP00000519042", "ENSEMBL:ENSP00000519042.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDW7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin Fat 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDW7-1", "PR:Q8TDW7-1", "ENSEMBL:ENSP00000432586", "ENSEMBL:ENSP00000432586.2"], "information_content": 100.0}
{"id": "NCBIGene:219539", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YPEL4", "equivalent_identifiers": ["NCBIGene:219539", "ENSEMBL:ENSG00000166793", "HGNC:18328", "OMIM:609725", "UMLS:C1538129", "UniProtKB:Q96NS1", "PR:Q96NS1", "ENSEMBL:ENSP00000300022", "ENSEMBL:ENSP00000300022.3", "ENSEMBL:ENSP00000432165", "ENSEMBL:ENSP00000432165.1", "ENSEMBL:ENSP00000432648", "ENSEMBL:ENSP00000432648.1", "UMLS:C2973870", "MESH:C551886"], "information_content": 95.4}
{"id": "MONDO:0002438", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired polycythemia", "equivalent_identifiers": ["MONDO:0002438", "DOID:2834", "ICD9:289.0"], "information_content": 88.2}
{"id": "NCBIGene:219537", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMTNL1", "equivalent_identifiers": ["NCBIGene:219537", "ENSEMBL:ENSG00000214872", "HGNC:32394", "OMIM:613664", "UMLS:C1822792", "UniProtKB:A8MU46", "PR:A8MU46", "ENSEMBL:ENSP00000432651", "ENSEMBL:ENSP00000432651.1", "UMLS:C2742446", "MESH:C543629"], "information_content": 100.0}
{"id": "MONDO:0013198", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dilated cardiomyopathy 1EE", "equivalent_identifiers": ["MONDO:0013198", "DOID:0110453", "OMIM:613252", "UMLS:C2750466", "MESH:C567683", "medgen:412965"], "information_content": 100.0}
{"id": "NCBIGene:1072", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFL1", "equivalent_identifiers": ["NCBIGene:1072", "ENSEMBL:ENSG00000172757", "HGNC:1874", "OMIM:601442", "UMLS:C1413355", "UniProtKB:P23528", "PR:P23528", "ENSEMBL:ENSP00000309629", "ENSEMBL:ENSP00000309629.5", "ENSEMBL:ENSP00000432660", "ENSEMBL:ENSP00000432660.1", "UMLS:C1565229", "MESH:C495810", "UniProtKB:V9HWI5"], "information_content": 84.2}
{"id": "NCBIGene:84992", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIGY", "equivalent_identifiers": ["NCBIGene:84992", "ENSEMBL:ENSG00000255072", "HGNC:28213", "OMIM:610662", "UMLS:C1826587", "UniProtKB:Q3MUY2", "PR:Q3MUY2", "ENSEMBL:ENSP00000432688", "ENSEMBL:ENSP00000432688.1", "UMLS:C1701392", "MESH:C507829"], "information_content": 95.4}
{"id": "NCBIGene:790955", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UQCC3", "equivalent_identifiers": ["NCBIGene:790955", "ENSEMBL:ENSG00000204922", "HGNC:34399", "OMIM:616097", "UMLS:C2681263", "UniProtKB:Q6UW78", "PR:Q6UW78", "ENSEMBL:ENSP00000367189", "ENSEMBL:ENSP00000367189.3", "ENSEMBL:ENSP00000432692", "ENSEMBL:ENSP00000432692.1", "UMLS:C4042134", "MESH:C000597855"], "information_content": 100.0}
{"id": "UniProtKB:Q9P272-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable tRNA methyltransferase 9B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P272-1", "PR:Q9P272-1", "ENSEMBL:ENSP00000432695", "ENSEMBL:ENSP00000432695.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCN2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "p53-regulated apoptosis-inducing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCN2-1", "PR:Q9HCN2-1", "ENSEMBL:ENSP00000432743", "ENSEMBL:ENSP00000432743.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14008-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoskeleton-associated protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14008-1", "PR:Q14008-1", "ENSEMBL:ENSP00000432768", "ENSEMBL:ENSP00000432768.1"], "information_content": 100.0}
{"id": "NCBIGene:2070", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EYA4", "equivalent_identifiers": ["NCBIGene:2070", "ENSEMBL:ENSG00000112319", "HGNC:3522", "OMIM:603550", "UMLS:C1414493", "UniProtKB:A0A0S2Z3Q2", "UMLS:C0764338", "MESH:C117736", "UniProtKB:A0A0S2Z3V9", "UniProtKB:A0A8C8KDW0", "ENSEMBL:ENSP00000347294", "ENSEMBL:ENSP00000347294.4", "UniProtKB:B4DIV6", "UniProtKB:B4DRQ6", "UniProtKB:E9PLN6", "ENSEMBL:ENSP00000433219", "ENSEMBL:ENSP00000433219.1", "UniProtKB:F2Z2Y1", "ENSEMBL:ENSP00000432770", "ENSEMBL:ENSP00000432770.1", "UniProtKB:O95677", "PR:O95677", "UniProtKB:Q96CJ7"]}
{"id": "UniProtKB:Q9Y2K7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysine-specific demethylase 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2K7-1", "PR:Q9Y2K7-1", "ENSEMBL:ENSP00000432786", "ENSEMBL:ENSP00000432786.1"], "information_content": 100.0}
{"id": "UniProtKB:P26436-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acrosomal protein SP-10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P26436-1", "PR:P26436-1", "ENSEMBL:ENSP00000432816", "ENSEMBL:ENSP00000432816.1"], "information_content": 100.0}
{"id": "NCBIGene:92312", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MEX3A", "equivalent_identifiers": ["NCBIGene:92312", "ENSEMBL:ENSG00000254726", "HGNC:33482", "OMIM:611007", "UMLS:C1970246", "UniProtKB:A1L020", "PR:A1L020", "ENSEMBL:ENSP00000432845", "ENSEMBL:ENSP00000432845.1", "UMLS:C1870034", "MESH:C519162"], "information_content": 100.0}
{"id": "UniProtKB:Q96LT9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding region-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LT9-1", "PR:Q96LT9-1", "ENSEMBL:ENSP00000391432", "ENSEMBL:ENSP00000391432.1", "ENSEMBL:ENSP00000432886", "ENSEMBL:ENSP00000432886.1"], "information_content": 100.0}
{"id": "MONDO:0004697", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "esophageal leukoplakia", "equivalent_identifiers": ["MONDO:0004697", "DOID:9021", "UMLS:C0267095", "MEDDRA:10015385", "MEDDRA:10024389", "MEDDRA:10062463", "MEDDRA:10072766", "NCIT:C3953", "SNOMEDCT:89057003", "medgen:75628", "ICD9:530.83", "HP:0012859"], "information_content": 100.0}
{"id": "UniProtKB:Q15262-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase kappa isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q15262-4", "PR:Q15262-4", "ENSEMBL:ENSP00000432973", "ENSEMBL:ENSP00000432973.1", "ENSEMBL:ENSP00000477791", "ENSEMBL:ENSP00000477791.2"], "information_content": 100.0}
{"id": "UniProtKB:O15539-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 5 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O15539-3", "PR:O15539-3", "ENSEMBL:ENSP00000433001", "ENSEMBL:ENSP00000433001.1"], "information_content": 100.0}
{"id": "UniProtKB:O75382-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 3 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:O75382-1", "PR:O75382-1", "ENSEMBL:ENSP00000340797", "ENSEMBL:ENSP00000340797.3", "ENSEMBL:ENSP00000352508", "ENSEMBL:ENSP00000352508.3", "ENSEMBL:ENSP00000433102", "ENSEMBL:ENSP00000433102.1"], "information_content": 100.0}
{"id": "NCBIGene:27122", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DKK3", "equivalent_identifiers": ["NCBIGene:27122", "ENSEMBL:ENSG00000050165", "HGNC:2893", "OMIM:605416", "UMLS:C1414059", "UniProtKB:F6SYF8", "ENSEMBL:ENSP00000433112", "ENSEMBL:ENSP00000433112.1", "UniProtKB:Q9UBP4", "PR:Q9UBP4", "ENSEMBL:ENSP00000314910", "ENSEMBL:ENSP00000314910.4", "ENSEMBL:ENSP00000379762", "ENSEMBL:ENSP00000379762.2", "ENSEMBL:ENSP00000506835", "ENSEMBL:ENSP00000506835.1", "UMLS:C1438784", "MESH:C498624"]}
{"id": "UniProtKB:Q5BJD5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 41B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q5BJD5-1", "PR:Q5BJD5-1", "ENSEMBL:ENSP00000299596", "ENSEMBL:ENSP00000299596.4", "ENSEMBL:ENSP00000433126", "ENSEMBL:ENSP00000433126.1", "ENSEMBL:ENSP00000480141", "ENSEMBL:ENSP00000480141.1"], "information_content": 100.0}
{"id": "UniProtKB:P29466-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase-1 isoform alpha (human)", "equivalent_identifiers": ["UniProtKB:P29466-1", "PR:P29466-1", "ENSEMBL:ENSP00000410076", "ENSEMBL:ENSP00000410076.3", "ENSEMBL:ENSP00000433138", "ENSEMBL:ENSP00000433138.1"], "information_content": 100.0}
{"id": "UniProtKB:A8MTZ0-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BBSome-interacting protein 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:A8MTZ0-4", "PR:A8MTZ0-4", "ENSEMBL:ENSP00000433157", "ENSEMBL:ENSP00000433157.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z589-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BRCA2-interacting transcriptional repressor EMSY isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z589-7", "PR:Q7Z589-7", "ENSEMBL:ENSP00000433205", "ENSEMBL:ENSP00000433205.1", "ENSEMBL:ENSP00000511840", "ENSEMBL:ENSP00000511840.1"], "information_content": 100.0}
{"id": "NCBIGene:5741", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTH", "equivalent_identifiers": ["NCBIGene:5741", "ENSEMBL:ENSG00000152266", "HGNC:9606", "OMIM:168450", "UMLS:C1419072", "UniProtKB:P01270", "PR:P01270", "ENSEMBL:ENSP00000282091", "ENSEMBL:ENSP00000282091.1", "ENSEMBL:ENSP00000433208", "ENSEMBL:ENSP00000433208.1", "UMLS:C0020063", "UMLS:C0071935", "MESH:C019056", "MESH:C470125"], "information_content": 95.4}
{"id": "NCBIGene:79792", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSDMD", "equivalent_identifiers": ["NCBIGene:79792", "ENSEMBL:ENSG00000104518", "HGNC:25697", "OMIM:617042", "UMLS:C1539620", "UniProtKB:P57764", "PR:P57764", "ENSEMBL:ENSP00000262580", "ENSEMBL:ENSP00000262580.4", "ENSEMBL:ENSP00000433209", "ENSEMBL:ENSP00000433209.1", "ENSEMBL:ENSP00000482096", "ENSEMBL:ENSP00000482096.1", "ENSEMBL:ENSP00000488012", "ENSEMBL:ENSP00000488012.1", "UMLS:C1567218", "MESH:C498366"], "information_content": 92.8}
{"id": "UniProtKB:P11836-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-lymphocyte antigen CD20 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P11836-1", "PR:P11836-1", "ENSEMBL:ENSP00000314620", "ENSEMBL:ENSP00000314620.7", "ENSEMBL:ENSP00000374589", "ENSEMBL:ENSP00000374589.2", "ENSEMBL:ENSP00000433277", "ENSEMBL:ENSP00000433277.1", "ENSEMBL:ENSP00000501369", "ENSEMBL:ENSP00000501369.1"], "information_content": 100.0}
{"id": "NCBIGene:3762", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNJ5", "equivalent_identifiers": ["NCBIGene:3762", "ENSEMBL:ENSG00000120457", "HGNC:6266", "OMIM:600734", "UMLS:C1416587", "UniProtKB:A0A5J6E2W8", "UniProtKB:P48544", "PR:P48544", "ENSEMBL:ENSP00000339960", "ENSEMBL:ENSP00000339960.4", "ENSEMBL:ENSP00000433295", "ENSEMBL:ENSP00000433295.1", "ENSEMBL:ENSP00000434266", "ENSEMBL:ENSP00000434266.1", "UMLS:C1433593", "MESH:C484274"], "information_content": 95.4}
{"id": "NCBIGene:79607", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM118B", "equivalent_identifiers": ["NCBIGene:79607", "ENSEMBL:ENSG00000197798", "HGNC:26110", "OMIM:616587", "UMLS:C1825252", "UniProtKB:J3KP39", "ENSEMBL:ENSP00000353321", "ENSEMBL:ENSP00000353321.4", "UniProtKB:Q9BPY3", "PR:Q9BPY3", "ENSEMBL:ENSP00000433343", "ENSEMBL:ENSP00000433343.1"], "information_content": 95.4}
{"id": "MONDO:0003474", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tanycytic ependymoma", "equivalent_identifiers": ["MONDO:0003474", "DOID:5504", "UMLS:C1370500", "NCIT:C6903", "SNOMEDCT:397378002", "medgen:237159"], "information_content": 100.0}
{"id": "MONDO:0000554", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endocervical adenocarcinoma", "equivalent_identifiers": ["MONDO:0000554", "DOID:0050940", "UMLS:C1263762", "UMLS:C1266059", "NCIT:C127907", "SNOMEDCT:123842006", "SNOMEDCT:128682003", "medgen:688039"], "information_content": 90.9}
{"id": "MONDO:0006143", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cervical squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0006143", "DOID:3744", "orphanet:213767", "EFO:1000172", "UMLS:C0279671", "MEDDRA:10041848", "NCIT:C4028", "SNOMEDCT:254886006", "medgen:124644", "icd11.foundation:1544785014"], "information_content": 79.9}
{"id": "UniProtKB:Q9UN73-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin alpha-6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UN73-1", "PR:Q9UN73-1", "ENSEMBL:ENSP00000433378", "ENSEMBL:ENSP00000433378.1", "ENSEMBL:ENSP00000517153", "ENSEMBL:ENSP00000517153.1"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000433415", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000433415", "equivalent_identifiers": ["ENSEMBL:ENSP00000433415"]}
{"id": "NCBIGene:54622", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARL15", "equivalent_identifiers": ["NCBIGene:54622", "ENSEMBL:ENSG00000185305", "HGNC:25945", "UMLS:C1824215", "UniProtKB:Q9NXU5", "PR:Q9NXU5", "ENSEMBL:ENSP00000433427", "ENSEMBL:ENSP00000433427.1", "UMLS:C3710610", "MESH:C585870"], "information_content": 90.9}
{"id": "NCBIGene:58487", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CREBZF", "equivalent_identifiers": ["NCBIGene:58487", "ENSEMBL:ENSG00000137504", "HGNC:24905", "OMIM:606444", "UMLS:C1824789", "UniProtKB:E9PIM0", "ENSEMBL:ENSP00000435762", "ENSEMBL:ENSP00000435762.1", "ENSEMBL:ENSP00000507358", "ENSEMBL:ENSP00000507358.1", "UMLS:C1309569", "MESH:C411104", "UniProtKB:Q9NS37", "PR:Q9NS37", "ENSEMBL:ENSP00000433459", "ENSEMBL:ENSP00000433459.1", "ENSEMBL:ENSP00000434281", "ENSEMBL:ENSP00000434281.1", "ENSEMBL:ENSP00000520895", "ENSEMBL:ENSP00000520895.1"], "information_content": 100.0}
{"id": "UniProtKB:Q01543-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Friend leukemia integration 1 transcription factor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q01543-1", "PR:Q01543-1", "ENSEMBL:ENSP00000433488", "ENSEMBL:ENSP00000433488.2"], "information_content": 95.4}
{"id": "NCBIGene:797", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CALCB", "equivalent_identifiers": ["NCBIGene:797", "ENSEMBL:ENSG00000175868", "HGNC:1438", "OMIM:114160", "UMLS:C1413083", "UniProtKB:P10092", "PR:P10092", "ENSEMBL:ENSP00000346017", "ENSEMBL:ENSP00000346017.5", "ENSEMBL:ENSP00000433490", "ENSEMBL:ENSP00000433490.1", "UMLS:C4742267", "MESH:C000627929"], "information_content": 100.0}
{"id": "UniProtKB:P78524-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DENN domain-containing protein 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78524-1", "PR:P78524-1", "ENSEMBL:ENSP00000319678", "ENSEMBL:ENSP00000319678.6", "ENSEMBL:ENSP00000433528", "ENSEMBL:ENSP00000433528.1"], "information_content": 100.0}
{"id": "MONDO:0015803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "wound botulism", "equivalent_identifiers": ["MONDO:0015803", "DOID:0050353", "orphanet:178475", "UMLS:C1306794", "NCIT:C128342", "SNOMEDCT:398530003", "medgen:224933", "icd11.foundation:1674998448"], "information_content": 100.0}
{"id": "NCBIGene:1410", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRYAB", "equivalent_identifiers": ["NCBIGene:1410", "ENSEMBL:ENSG00000109846", "HGNC:2389", "OMIM:123590", "UMLS:C1439328", "UniProtKB:A0A024R3B9", "ENSEMBL:ENSP00000435046", "ENSEMBL:ENSP00000435046.1", "ENSEMBL:ENSP00000435411", "ENSEMBL:ENSP00000435411.1", "ENSEMBL:ENSP00000435960", "ENSEMBL:ENSP00000435960.1", "ENSEMBL:ENSP00000498749", "ENSEMBL:ENSP00000498749.1", "UniProtKB:P02511", "PR:P02511", "ENSEMBL:ENSP00000227251", "ENSEMBL:ENSP00000227251.3", "ENSEMBL:ENSP00000433560", "ENSEMBL:ENSP00000433560.1", "ENSEMBL:ENSP00000434247", "ENSEMBL:ENSP00000434247.1", "ENSEMBL:ENSP00000435931", "ENSEMBL:ENSP00000435931.2", "ENSEMBL:ENSP00000436051", "ENSEMBL:ENSP00000436051.1", "ENSEMBL:ENSP00000436089", "ENSEMBL:ENSP00000436089.2", "ENSEMBL:ENSP00000437149", "ENSEMBL:ENSP00000437149.1", "ENSEMBL:ENSP00000483554", "ENSEMBL:ENSP00000483554.1", "ENSEMBL:ENSP00000498735", "ENSEMBL:ENSP00000498735.1", "ENSEMBL:ENSP00000499082", "ENSEMBL:ENSP00000499082.1", "UMLS:C1437227", "MESH:C059215", "UniProtKB:V9HW27"], "information_content": 95.4}
{"id": "MONDO:0011233", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Axenfeld-Rieger syndrome type 3", "equivalent_identifiers": ["MONDO:0011233", "DOID:0110122", "OMIM:602482", "UMLS:C2678503", "SNOMEDCT:22155002", "medgen:394534"], "information_content": 100.0}
{"id": "UniProtKB:E9PKD4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear pore complex-interacting protein family member A5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:E9PKD4-1", "PR:E9PKD4-1", "ENSEMBL:ENSP00000433597", "ENSEMBL:ENSP00000433597.1"], "information_content": 100.0}
{"id": "NCBIGene:7189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRAF6", "equivalent_identifiers": ["NCBIGene:7189", "ENSEMBL:ENSG00000175104", "HGNC:12036", "OMIM:602355", "UMLS:C1336666", "UniProtKB:Q9Y4K3", "PR:Q9Y4K3", "ENSEMBL:ENSP00000337853", "ENSEMBL:ENSP00000337853.5", "ENSEMBL:ENSP00000433623", "ENSEMBL:ENSP00000433623.1", "UMLS:C4076919", "MESH:C000604754"], "information_content": 89.4}
{"id": "UniProtKB:P78344-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 4 gamma 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78344-1", "PR:P78344-1", "ENSEMBL:ENSP00000340281", "ENSEMBL:ENSP00000340281.6", "ENSEMBL:ENSP00000433371", "ENSEMBL:ENSP00000433371.2", "ENSEMBL:ENSP00000433664", "ENSEMBL:ENSP00000433664.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96M96-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FYVE, RhoGEF and PH domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96M96-1", "PR:Q96M96-1", "ENSEMBL:ENSP00000394487", "ENSEMBL:ENSP00000394487.2", "ENSEMBL:ENSP00000433666", "ENSEMBL:ENSP00000433666.2", "ENSEMBL:ENSP00000462623", "ENSEMBL:ENSP00000462623.2"], "information_content": 100.0}
{"id": "NCBIGene:23310", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCAPD3", "equivalent_identifiers": ["NCBIGene:23310", "ENSEMBL:ENSG00000151503", "HGNC:28952", "OMIM:609276", "UMLS:C1826381", "UniProtKB:A0A8I5KT00", "ENSEMBL:ENSP00000510008", "ENSEMBL:ENSP00000510008.1", "UniProtKB:P42695", "PR:P42695", "ENSEMBL:ENSP00000433681", "ENSEMBL:ENSP00000433681.3", "ENSEMBL:ENSP00000508707", "ENSEMBL:ENSP00000508707.1", "ENSEMBL:ENSP00000510391", "ENSEMBL:ENSP00000510391.1", "UMLS:C4041700", "MESH:C000599979"], "information_content": 83.6}
{"id": "NCBIGene:503542", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPRN", "equivalent_identifiers": ["NCBIGene:503542", "ENSEMBL:ENSG00000203772", "HGNC:16871", "OMIM:610447", "UMLS:C1823113", "UniProtKB:Q5BIV9", "PR:Q5BIV9", "ENSEMBL:ENSP00000433712", "ENSEMBL:ENSP00000433712.1", "ENSEMBL:ENSP00000510252", "ENSEMBL:ENSP00000510252.1", "UMLS:C1313266", "MESH:C478971"], "information_content": 100.0}
{"id": "NCBIGene:8815", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BANF1", "equivalent_identifiers": ["NCBIGene:8815", "ENSEMBL:ENSG00000175334", "HGNC:17397", "OMIM:603811", "UMLS:C1424954", "UniProtKB:O75531", "PR:O75531", "ENSEMBL:ENSP00000310275", "ENSEMBL:ENSP00000310275.2", "ENSEMBL:ENSP00000416128", "ENSEMBL:ENSP00000416128.2", "ENSEMBL:ENSP00000432867", "ENSEMBL:ENSP00000432867.1", "ENSEMBL:ENSP00000433760", "ENSEMBL:ENSP00000433760.1", "UMLS:C1313480", "MESH:C501959"], "information_content": 90.9}
{"id": "UniProtKB:P0DTL6-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger TRAF-type-containing protein 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P0DTL6-5", "PR:P0DTL6-5", "ENSEMBL:ENSP00000433769", "ENSEMBL:ENSP00000433769.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2W7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2W7-1", "PR:Q9P2W7-1", "ENSEMBL:ENSP00000307875", "ENSEMBL:ENSP00000307875.4", "ENSEMBL:ENSP00000376359", "ENSEMBL:ENSP00000376359.1", "ENSEMBL:ENSP00000433847", "ENSEMBL:ENSP00000433847.1"], "information_content": 100.0}
{"id": "MONDO:0012643", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 32", "equivalent_identifiers": ["MONDO:0012643", "DOID:0110783", "OMIM:611252", "orphanet:171622", "UMLS:C1970009", "MESH:C566983", "SNOMEDCT:726606003", "medgen:409967"], "information_content": 100.0}
{"id": "UniProtKB:P54315-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive pancreatic lipase-related protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P54315-1", "PR:P54315-1", "ENSEMBL:ENSP00000351695", "ENSEMBL:ENSP00000351695.4", "ENSEMBL:ENSP00000433933", "ENSEMBL:ENSP00000433933.1", "ENSEMBL:ENSP00000517519", "ENSEMBL:ENSP00000517519.1", "ENSEMBL:ENSP00000517520", "ENSEMBL:ENSP00000517520.1"], "information_content": 100.0}
{"id": "NCBIGene:6050", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNH1", "equivalent_identifiers": ["NCBIGene:6050", "ENSEMBL:ENSG00000023191", "HGNC:10074", "OMIM:173320", "UMLS:C1826843", "UniProtKB:A0A140VJT8", "UMLS:C1569726", "MESH:C501467", "UniProtKB:P13489", "PR:P13489", "ENSEMBL:ENSP00000346402", "ENSEMBL:ENSP00000346402.2", "ENSEMBL:ENSP00000348515", "ENSEMBL:ENSP00000348515.5", "ENSEMBL:ENSP00000380729", "ENSEMBL:ENSP00000380729.3", "ENSEMBL:ENSP00000380738", "ENSEMBL:ENSP00000380738.1", "ENSEMBL:ENSP00000380739", "ENSEMBL:ENSP00000380739.2", "ENSEMBL:ENSP00000416589", "ENSEMBL:ENSP00000416589.2", "ENSEMBL:ENSP00000433999", "ENSEMBL:ENSP00000433999.1", "ENSEMBL:ENSP00000435594", "ENSEMBL:ENSP00000435594.1", "ENSEMBL:ENSP00000478664", "ENSEMBL:ENSP00000478664.1", "ENSEMBL:ENSP00000479004", "ENSEMBL:ENSP00000479004.1", "ENSEMBL:ENSP00000479966", "ENSEMBL:ENSP00000479966.1", "ENSEMBL:ENSP00000480036", "ENSEMBL:ENSP00000480036.1", "ENSEMBL:ENSP00000484572", "ENSEMBL:ENSP00000484572.1", "ENSEMBL:ENSP00000487753", "ENSEMBL:ENSP00000487753.1", "ENSEMBL:ENSP00000487940", "ENSEMBL:ENSP00000487940.1", "ENSEMBL:ENSP00000488734", "ENSEMBL:ENSP00000488734.1", "UMLS:C3539761"], "information_content": 89.4}
{"id": "NCBIGene:3014", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2AX", "equivalent_identifiers": ["NCBIGene:3014", "ENSEMBL:ENSG00000188486", "HGNC:4739", "OMIM:601772", "UMLS:C1415406", "UniProtKB:P16104", "PR:P16104", "ENSEMBL:ENSP00000364310", "ENSEMBL:ENSP00000364310.1", "ENSEMBL:ENSP00000434024", "ENSEMBL:ENSP00000434024.1", "UMLS:C1172465", "MESH:C468783"], "information_content": 83.1}
{"id": "NCBIGene:8322", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FZD4", "equivalent_identifiers": ["NCBIGene:8322", "ENSEMBL:ENSG00000174804", "HGNC:4042", "OMIM:604579", "UMLS:C1333586", "UniProtKB:Q9ULV1", "PR:Q9ULV1", "ENSEMBL:ENSP00000434034", "ENSEMBL:ENSP00000434034.1", "UMLS:C1333639", "MESH:C402930"], "information_content": 90.9}
{"id": "NCBIGene:3748", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNC3", "equivalent_identifiers": ["NCBIGene:3748", "ENSEMBL:ENSG00000131398", "HGNC:6235", "OMIM:176264", "UMLS:C1416558", "UniProtKB:Q14003", "PR:Q14003", "ENSEMBL:ENSP00000434241", "ENSEMBL:ENSP00000434241.1", "UMLS:C1454825", "MESH:C489594"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYE2-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protease serine 13 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYE2-6", "PR:Q9BYE2-6", "ENSEMBL:ENSP00000434279", "ENSEMBL:ENSP00000434279.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6IPT4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH-cytochrome b5 reductase-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IPT4-1", "PR:Q6IPT4-1", "ENSEMBL:ENSP00000434343", "ENSEMBL:ENSP00000434343.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "poly(U)-binding-splicing factor PUF60 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHX1-1", "PR:Q9UHX1-1", "ENSEMBL:ENSP00000434359", "ENSEMBL:ENSP00000434359.1", "ENSEMBL:ENSP00000515511", "ENSEMBL:ENSP00000515511.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y345-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium- and chloride-dependent glycine transporter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y345-1", "PR:Q9Y345-1", "ENSEMBL:ENSP00000434364", "ENSEMBL:ENSP00000434364.2"], "information_content": 100.0}
{"id": "NCBIGene:728734", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPIPB8", "equivalent_identifiers": ["NCBIGene:728734", "ENSEMBL:ENSG00000255524", "HGNC:37490", "UMLS:C3812024", "UniProtKB:E9PQR5", "PR:E9PQR5", "ENSEMBL:ENSP00000434399", "ENSEMBL:ENSP00000434399.1", "ENSEMBL:ENSP00000507410", "ENSEMBL:ENSP00000507410.1", "UMLS:C4553973"], "information_content": 100.0}
{"id": "NCBIGene:871", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINH1", "equivalent_identifiers": ["NCBIGene:871", "ENSEMBL:ENSG00000149257", "HGNC:1546", "OMIM:600943", "UMLS:C1413153", "UniProtKB:A8K259", "UMLS:C1530699", "MESH:C494660", "UniProtKB:P50454", "PR:P50454", "ENSEMBL:ENSP00000350894", "ENSEMBL:ENSP00000350894.4", "ENSEMBL:ENSP00000434412", "ENSEMBL:ENSP00000434412.1", "ENSEMBL:ENSP00000434657", "ENSEMBL:ENSP00000434657.1"], "information_content": 85.5}
{"id": "NCBIGene:63901", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM111A", "equivalent_identifiers": ["NCBIGene:63901", "ENSEMBL:ENSG00000166801", "HGNC:24725", "OMIM:615292", "UMLS:C1825241", "UniProtKB:Q96PZ2", "PR:Q96PZ2", "ENSEMBL:ENSP00000355264", "ENSEMBL:ENSP00000355264.3", "ENSEMBL:ENSP00000406683", "ENSEMBL:ENSP00000406683.1", "ENSEMBL:ENSP00000431631", "ENSEMBL:ENSP00000431631.1", "ENSEMBL:ENSP00000432821", "ENSEMBL:ENSP00000432821.2", "ENSEMBL:ENSP00000433154", "ENSEMBL:ENSP00000433154.1", "ENSEMBL:ENSP00000434435", "ENSEMBL:ENSP00000434435.1", "ENSEMBL:ENSP00000436128", "ENSEMBL:ENSP00000436128.2", "ENSEMBL:ENSP00000501617", "ENSEMBL:ENSP00000501617.2", "ENSEMBL:ENSP00000501771", "ENSEMBL:ENSP00000501771.1", "ENSEMBL:ENSP00000501786", "ENSEMBL:ENSP00000501786.1", "ENSEMBL:ENSP00000501909", "ENSEMBL:ENSP00000501909.1", "ENSEMBL:ENSP00000501952", "ENSEMBL:ENSP00000501952.1", "ENSEMBL:ENSP00000502754", "ENSEMBL:ENSP00000502754.2", "ENSEMBL:ENSP00000507215", "ENSEMBL:ENSP00000507215.1", "UMLS:C3659995", "MESH:C579415"], "information_content": 90.9}
{"id": "UniProtKB:Q8N6H7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor GTPase-activating protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6H7-1", "PR:Q8N6H7-1", "ENSEMBL:ENSP00000434442", "ENSEMBL:ENSP00000434442.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96HW7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrator complex subunit 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HW7-1", "PR:Q96HW7-1", "ENSEMBL:ENSP00000434466", "ENSEMBL:ENSP00000434466.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUN7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alkaline ceramidase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUN7-1", "PR:Q9NUN7-1", "ENSEMBL:ENSP00000434480", "ENSEMBL:ENSP00000434480.1"], "information_content": 100.0}
{"id": "NCBIGene:280636", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SELENOH", "equivalent_identifiers": ["NCBIGene:280636", "ENSEMBL:ENSG00000211450", "HGNC:18251", "OMIM:607914", "UMLS:C1425397", "UniProtKB:Q8IZQ5", "PR:Q8IZQ5", "ENSEMBL:ENSP00000373509", "ENSEMBL:ENSP00000373509.4", "ENSEMBL:ENSP00000434511", "ENSEMBL:ENSP00000434511.1"], "information_content": 95.4}
{"id": "UniProtKB:Q8NBI5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "equilibrative nucleobase transporter 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBI5-2", "PR:Q8NBI5-2", "ENSEMBL:ENSP00000434515", "ENSEMBL:ENSP00000434515.1"], "information_content": 100.0}
{"id": "MONDO:0014484", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "microcephaly 12, primary, autosomal recessive", "equivalent_identifiers": ["MONDO:0014484", "DOID:0070284", "OMIM:616080", "UMLS:C4015156", "medgen:863593"], "information_content": 100.0}
{"id": "UniProtKB:Q16881-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin reductase 1, cytoplasmic isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16881-1", "PR:Q16881-1", "ENSEMBL:ENSP00000434516", "ENSEMBL:ENSP00000434516.1"], "information_content": 100.0}
{"id": "NCBIGene:84441", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAML2", "equivalent_identifiers": ["NCBIGene:84441", "ENSEMBL:ENSG00000184384", "HGNC:16259", "OMIM:607537", "UMLS:C1424132", "UniProtKB:Q8IZL2", "PR:Q8IZL2", "ENSEMBL:ENSP00000434552", "ENSEMBL:ENSP00000434552.1", "UMLS:C1174309", "UMLS:C2987161", "MESH:C471297"], "information_content": 90.9}
{"id": "NCBIGene:387104", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTCL3", "equivalent_identifiers": ["NCBIGene:387104", "ENSEMBL:ENSG00000214338", "HGNC:21494", "UMLS:C3469859", "UniProtKB:Q5TF21", "PR:Q5TF21", "ENSEMBL:ENSP00000434570", "ENSEMBL:ENSP00000434570.1"], "information_content": 100.0}
{"id": "MONDO:0014606", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome", "equivalent_identifiers": ["MONDO:0014606", "DOID:0070067", "OMIM:616364", "orphanet:468678", "EFO:0009079", "UMLS:C4225351", "SNOMEDCT:772127009", "medgen:897984"], "information_content": 100.0}
{"id": "UniProtKB:P30260-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cell division cycle protein 27 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P30260-2", "PR:P30260-2", "ENSEMBL:ENSP00000434614", "ENSEMBL:ENSP00000434614.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5H6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin alpha-8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5H6-1", "PR:Q9Y5H6-1", "ENSEMBL:ENSP00000434655", "ENSEMBL:ENSP00000434655.1", "ENSEMBL:ENSP00000517158", "ENSEMBL:ENSP00000517158.1"], "information_content": 100.0}
{"id": "UniProtKB:Q70EL3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 50 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q70EL3-2", "PR:Q70EL3-2", "ENSEMBL:ENSP00000434676", "ENSEMBL:ENSP00000434676.1"], "information_content": 100.0}
{"id": "NCBIGene:10068", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL18BP", "equivalent_identifiers": ["NCBIGene:10068", "ENSEMBL:ENSG00000137496", "HGNC:5987", "OMIM:604113", "UMLS:C1416392", "UniProtKB:G3V1C5", "ENSEMBL:ENSP00000434717", "ENSEMBL:ENSP00000434717.1", "ENSEMBL:ENSP00000434835", "ENSEMBL:ENSP00000434835.1", "UniProtKB:O95998", "PR:O95998", "UMLS:C1743775"]}
{"id": "UniProtKB:Q9GZT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 90B, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZT6-1", "PR:Q9GZT6-1", "ENSEMBL:ENSP00000434724", "ENSEMBL:ENSP00000434724.1"], "information_content": 100.0}
{"id": "NCBIGene:84875", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PARP10", "equivalent_identifiers": ["NCBIGene:84875", "ENSEMBL:ENSG00000178685", "HGNC:25895", "OMIM:609564", "UMLS:C1538587", "UniProtKB:B4E0C4", "UMLS:C1567877", "MESH:C499627", "UniProtKB:E9PK67", "ENSEMBL:ENSP00000431620", "ENSEMBL:ENSP00000431620.1", "UniProtKB:E9PNI7", "ENSEMBL:ENSP00000434776", "ENSEMBL:ENSP00000434776.1", "UniProtKB:E9PPE7", "ENSEMBL:ENSP00000432733", "ENSEMBL:ENSP00000432733.1", "UniProtKB:Q53GL7", "PR:Q53GL7", "ENSEMBL:ENSP00000325618", "ENSEMBL:ENSP00000325618.7"]}
{"id": "UniProtKB:Q7Z2Y5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Nik-related protein kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z2Y5-1", "PR:Q7Z2Y5-1", "ENSEMBL:ENSP00000434830", "ENSEMBL:ENSP00000434830.1"], "information_content": 100.0}
{"id": "NCBIGene:25987", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSKU", "equivalent_identifiers": ["NCBIGene:25987", "ENSEMBL:ENSG00000182704", "HGNC:28850", "OMIM:608015", "UMLS:C1823517", "UniProtKB:B3KRF9", "UMLS:C3657918", "MESH:C578542", "UniProtKB:Q8WUA8", "PR:Q8WUA8", "ENSEMBL:ENSP00000332668", "ENSEMBL:ENSP00000332668.4", "ENSEMBL:ENSP00000434847", "ENSEMBL:ENSP00000434847.1", "ENSEMBL:ENSP00000482145", "ENSEMBL:ENSP00000482145.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92989-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyribonucleotide 5'-hydroxyl-kinase Clp1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92989-1", "PR:Q92989-1", "ENSEMBL:ENSP00000434995", "ENSEMBL:ENSP00000434995.1", "ENSEMBL:ENSP00000436066", "ENSEMBL:ENSP00000436066.1", "ENSEMBL:ENSP00000506714", "ENSEMBL:ENSP00000506714.1"], "information_content": 100.0}
{"id": "NCBIGene:613211", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEFB134", "equivalent_identifiers": ["NCBIGene:613211", "ENSEMBL:ENSG00000205882", "HGNC:32399", "UMLS:C2681406", "UniProtKB:Q4QY38", "PR:Q4QY38", "ENSEMBL:ENSP00000371640", "ENSEMBL:ENSP00000371640.4", "ENSEMBL:ENSP00000435010", "ENSEMBL:ENSP00000435010.1", "ENSEMBL:ENSP00000494837", "ENSEMBL:ENSP00000494837.1", "ENSEMBL:ENSP00000495848", "ENSEMBL:ENSP00000495848.1"], "information_content": 100.0}
{"id": "NCBIGene:6230", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS25", "equivalent_identifiers": ["NCBIGene:6230", "ENSEMBL:ENSG00000118181", "HGNC:10413", "OMIM:180465", "UMLS:C1419727", "UniProtKB:P62851", "PR:P62851", "ENSEMBL:ENSP00000435096", "ENSEMBL:ENSP00000435096.1", "ENSEMBL:ENSP00000486392", "ENSEMBL:ENSP00000486392.1", "UMLS:C1453837", "MESH:C489168"], "information_content": 90.9}
{"id": "UniProtKB:Q9NYF8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Bcl-2-associated transcription factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYF8-1", "PR:Q9NYF8-1", "ENSEMBL:ENSP00000435210", "ENSEMBL:ENSP00000435210.1"], "information_content": 100.0}
{"id": "UniProtKB:P28347-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcriptional enhancer factor TEF-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P28347-1", "PR:P28347-1", "ENSEMBL:ENSP00000435233", "ENSEMBL:ENSP00000435233.2"], "information_content": 100.0}
{"id": "NCBIGene:649137", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZSCAN5C", "equivalent_identifiers": ["NCBIGene:649137", "ENSEMBL:ENSG00000204532", "HGNC:34294", "UMLS:C2681173", "UniProtKB:A6NGD5", "PR:A6NGD5", "ENSEMBL:ENSP00000435234", "ENSEMBL:ENSP00000435234.1"], "information_content": 100.0}
{"id": "UniProtKB:P68402-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "platelet-activating factor acetylhydrolase IB subunit alpha2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P68402-1", "PR:P68402-1", "ENSEMBL:ENSP00000435289", "ENSEMBL:ENSP00000435289.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4Y2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "EF-hand calcium-binding domain-containing protein 4A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4Y2-1", "PR:Q8N4Y2-1", "ENSEMBL:ENSP00000435299", "ENSEMBL:ENSP00000435299.1"], "information_content": 100.0}
{"id": "MONDO:0014647", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 50", "equivalent_identifiers": ["MONDO:0014647", "DOID:0080419", "OMIM:616457", "orphanet:448010", "UMLS:C4225320", "NCIT:C190868", "SNOMEDCT:1237417007", "medgen:904125"], "information_content": 100.0}
{"id": "UniProtKB:Q9UN74-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin alpha-4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UN74-1", "PR:Q9UN74-1", "ENSEMBL:ENSP00000435300", "ENSEMBL:ENSP00000435300.1", "ENSEMBL:ENSP00000517146", "ENSEMBL:ENSP00000517146.1"], "information_content": 100.0}
{"id": "NCBIGene:375519", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJB7", "equivalent_identifiers": ["NCBIGene:375519", "ENSEMBL:ENSG00000164411", "HGNC:16690", "OMIM:611921", "UMLS:C1424488", "UniProtKB:Q6PEY0", "PR:Q6PEY0", "ENSEMBL:ENSP00000435355", "ENSEMBL:ENSP00000435355.1", "UMLS:C1174583", "MESH:C471697"], "information_content": 100.0}
{"id": "UniProtKB:Q5JTV8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "torsin-1A-interacting protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5JTV8-3", "PR:Q5JTV8-3", "ENSEMBL:ENSP00000435365", "ENSEMBL:ENSP00000435365.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5T5M9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-J isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5T5M9-3", "PR:Q5T5M9-3", "ENSEMBL:ENSP00000435373", "ENSEMBL:ENSP00000435373.2"], "information_content": 100.0}
{"id": "NCBIGene:6588", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLN", "equivalent_identifiers": ["NCBIGene:6588", "ENSEMBL:ENSG00000170290", "HGNC:11089", "OMIM:602203", "UMLS:C1420247", "UniProtKB:A0A158RFT9", "UMLS:C1610386", "UniProtKB:O00631", "PR:O00631", "ENSEMBL:ENSP00000304707", "ENSEMBL:ENSP00000304707.2", "ENSEMBL:ENSP00000434189", "ENSEMBL:ENSP00000434189.1", "ENSEMBL:ENSP00000435380", "ENSEMBL:ENSP00000435380.1"], "information_content": 92.8}
{"id": "NCBIGene:144100", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLEKHA7", "equivalent_identifiers": ["NCBIGene:144100", "ENSEMBL:ENSG00000166689", "HGNC:27049", "OMIM:612686", "UMLS:C1538670", "UniProtKB:A0A8V8TMS3", "ENSEMBL:ENSP00000513972", "ENSEMBL:ENSP00000513972.1", "UniProtKB:E9PKC0", "ENSEMBL:ENSP00000435389", "ENSEMBL:ENSP00000435389.1", "UMLS:C2606174", "MESH:C533786", "UniProtKB:Q6IQ23", "PR:Q6IQ23"]}
{"id": "UniProtKB:Q15418-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal protein S6 kinase alpha-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15418-2", "PR:Q15418-2", "ENSEMBL:ENSP00000435412", "ENSEMBL:ENSP00000435412.1", "ENSEMBL:ENSP00000487349", "ENSEMBL:ENSP00000487349.1"], "information_content": 100.0}
{"id": "UniProtKB:O00214-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "galectin-8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O00214-2", "PR:O00214-2", "ENSEMBL:ENSP00000309576", "ENSEMBL:ENSP00000309576.2", "ENSEMBL:ENSP00000408657", "ENSEMBL:ENSP00000408657.2", "ENSEMBL:ENSP00000431398", "ENSEMBL:ENSP00000431398.1", "ENSEMBL:ENSP00000435460", "ENSEMBL:ENSP00000435460.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kin of IRRE-like protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZU9-1", "PR:Q8IZU9-1", "ENSEMBL:ENSP00000435466", "ENSEMBL:ENSP00000435466.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z5Q5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA polymerase nu isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5Q5-1", "PR:Q7Z5Q5-1", "ENSEMBL:ENSP00000372316", "ENSEMBL:ENSP00000372316.1", "ENSEMBL:ENSP00000435506", "ENSEMBL:ENSP00000435506.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9L1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein ZIC 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9L1-3", "PR:Q8N9L1-3", "ENSEMBL:ENSP00000435509", "ENSEMBL:ENSP00000435509.2"], "information_content": 100.0}
{"id": "UniProtKB:P32239-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gastrin/cholecystokinin type B receptor isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P32239-2", "PR:P32239-2", "ENSEMBL:ENSP00000435534", "ENSEMBL:ENSP00000435534.1"], "information_content": 100.0}
{"id": "UniProtKB:Q53FD0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger C2HC domain-containing protein 1C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53FD0-1", "PR:Q53FD0-1", "ENSEMBL:ENSP00000435550", "ENSEMBL:ENSP00000435550.1", "ENSEMBL:ENSP00000501056", "ENSEMBL:ENSP00000501056.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5U5Z8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic carboxypeptidase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5U5Z8-1", "PR:Q5U5Z8-1", "ENSEMBL:ENSP00000435582", "ENSEMBL:ENSP00000435582.1", "ENSEMBL:ENSP00000494229", "ENSEMBL:ENSP00000494229.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6S3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epidermal growth factor receptor kinase substrate 8-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6S3-1", "PR:Q9H6S3-1", "ENSEMBL:ENSP00000320828", "ENSEMBL:ENSP00000320828.8", "ENSEMBL:ENSP00000435585", "ENSEMBL:ENSP00000435585.1", "ENSEMBL:ENSP00000436035", "ENSEMBL:ENSP00000436035.1"], "information_content": 100.0}
{"id": "NCBIGene:493861", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EID3", "equivalent_identifiers": ["NCBIGene:493861", "ENSEMBL:ENSG00000255150", "HGNC:32961", "OMIM:612986", "UMLS:C1825042", "UniProtKB:A0A140VJI9", "UMLS:C1570987", "MESH:C502085", "UniProtKB:Q8N140", "PR:Q8N140", "ENSEMBL:ENSP00000435619", "ENSEMBL:ENSP00000435619.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6P1W5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C1orf94 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P1W5-1", "PR:Q6P1W5-1", "ENSEMBL:ENSP00000435634", "ENSEMBL:ENSP00000435634.1"], "information_content": 100.0}
{"id": "MONDO:0033135", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease, demyelinating, type 1G", "equivalent_identifiers": ["MONDO:0033135", "DOID:0111560", "OMIM:618279", "orphanet:476394", "EFO:0010266", "UMLS:C4748940", "medgen:1648290"], "information_content": 100.0}
{"id": "MONDO:0011890", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 1D", "equivalent_identifiers": ["MONDO:0011890", "DOID:0110150", "OMIM:607678", "orphanet:101084", "UMLS:C1843247", "MESH:C537985", "SNOMEDCT:719979008", "medgen:334709", "icd11.foundation:2062905967"], "information_content": 100.0}
{"id": "MONDO:0011902", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 1F", "equivalent_identifiers": ["MONDO:0011902", "DOID:0110149", "OMIM:607734", "orphanet:101085", "UMLS:C1843164", "MESH:C537987", "SNOMEDCT:719980006", "medgen:334337", "icd11.foundation:1160290076"], "information_content": 100.0}
{"id": "MONDO:0011897", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism", "equivalent_identifiers": ["MONDO:0011897", "DOID:0060794", "OMIM:607694", "UMLS:C2676243", "UMLS:C4706676", "MESH:C567313", "SNOMEDCT:721846006", "SNOMEDCT:764095005", "medgen:1639554"], "information_content": 89.4}
{"id": "MONDO:0002553", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebellopontine angle tumor", "equivalent_identifiers": ["MONDO:0002553", "DOID:3200", "UMLS:C0474740", "MEDDRA:10069726", "MEDDRA:10069745", "NCIT:C5414", "SNOMEDCT:126947009", "medgen:99181"], "information_content": 90.9}
{"id": "UniProtKB:O94779-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "contactin-5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94779-1", "PR:O94779-1", "ENSEMBL:ENSP00000435637", "ENSEMBL:ENSP00000435637.1", "ENSEMBL:ENSP00000436185", "ENSEMBL:ENSP00000436185.1"], "information_content": 100.0}
{"id": "NCBIGene:2900", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRIK4", "equivalent_identifiers": ["NCBIGene:2900", "ENSEMBL:ENSG00000149403", "HGNC:4582", "OMIM:600282", "UMLS:C1415296", "UniProtKB:A0A8D9PH79", "UMLS:C1742915", "MESH:C514872", "UniProtKB:A0A8D9UJ88", "UniProtKB:A6H8K8", "UniProtKB:B2RAP6", "UniProtKB:Q16099", "PR:Q16099", "ENSEMBL:ENSP00000404063", "ENSEMBL:ENSP00000404063.2", "ENSEMBL:ENSP00000435648", "ENSEMBL:ENSP00000435648.2", "ENSEMBL:ENSP00000492086", "ENSEMBL:ENSP00000492086.1"], "information_content": 92.8}
{"id": "UniProtKB:P43694-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor GATA-4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P43694-2", "PR:P43694-2", "ENSEMBL:ENSP00000435712", "ENSEMBL:ENSP00000435712.1", "ENSEMBL:ENSP00000493647", "ENSEMBL:ENSP00000493647.1"], "information_content": 100.0}
{"id": "NCBIGene:56676", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASCL3", "equivalent_identifiers": ["NCBIGene:56676", "ENSEMBL:ENSG00000176009", "HGNC:740", "OMIM:609154", "UMLS:C1412576", "UniProtKB:Q9NQ33", "PR:Q9NQ33", "ENSEMBL:ENSP00000435770", "ENSEMBL:ENSP00000435770.1", "UMLS:C1567574", "MESH:C499124"], "information_content": 100.0}
{"id": "NCBIGene:6207", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS13", "equivalent_identifiers": ["NCBIGene:6207", "ENSEMBL:ENSG00000110700", "HGNC:10386", "OMIM:180476", "UMLS:C1419702", "UniProtKB:P62277", "PR:P62277", "ENSEMBL:ENSP00000435777", "ENSEMBL:ENSP00000435777.1", "UMLS:C1622764", "MESH:C047013"], "information_content": 92.8}
{"id": "UniProtKB:Q9NZC4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ETS homologous factor isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZC4-3", "PR:Q9NZC4-3", "ENSEMBL:ENSP00000435835", "ENSEMBL:ENSP00000435835.1"], "information_content": 100.0}
{"id": "NCBIGene:64231", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MS4A6A", "equivalent_identifiers": ["NCBIGene:64231", "ENSEMBL:ENSG00000110077", "HGNC:13375", "OMIM:606548", "UMLS:C1421960", "UniProtKB:B4DUN6", "UMLS:C3494084", "MESH:C574492", "UniProtKB:E9PSA9", "ENSEMBL:ENSP00000435844", "ENSEMBL:ENSP00000435844.1", "UniProtKB:Q9H2W1", "PR:Q9H2W1"]}
{"id": "NCBIGene:27012", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNV1", "equivalent_identifiers": ["NCBIGene:27012", "ENSEMBL:ENSG00000164794", "HGNC:18861", "OMIM:608164", "UMLS:C1425832", "UniProtKB:Q6PIU1", "PR:Q6PIU1", "ENSEMBL:ENSP00000297404", "ENSEMBL:ENSP00000297404.1", "ENSEMBL:ENSP00000435954", "ENSEMBL:ENSP00000435954.1", "UMLS:C1438347", "MESH:C120777"], "information_content": 95.4}
{"id": "MONDO:0019623", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary angioedema", "equivalent_identifiers": ["MONDO:0019623", "DOID:14735", "OMIM.PS:106100", "orphanet:91378", "UMLS:C0019243", "MESH:D054179", "MEDDRA:10019860", "MEDDRA:10056912", "MEDDRA:10080957", "NCIT:C84758", "SNOMEDCT:82966003", "medgen:9229", "icd11.foundation:795969334"], "information_content": 83.1}
{"id": "UniProtKB:Q9Y296-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "trafficking protein particle complex subunit 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y296-1", "PR:Q9Y296-1", "ENSEMBL:ENSP00000436005", "ENSEMBL:ENSP00000436005.1", "ENSEMBL:ENSP00000487467", "ENSEMBL:ENSP00000487467.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5H5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin alpha-9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5H5-1", "PR:Q9Y5H5-1", "ENSEMBL:ENSP00000436042", "ENSEMBL:ENSP00000436042.2", "ENSEMBL:ENSP00000517160", "ENSEMBL:ENSP00000517160.1"], "information_content": 100.0}
{"id": "UniProtKB:Q11206-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q11206-1", "PR:Q11206-1", "ENSEMBL:ENSP00000376437", "ENSEMBL:ENSP00000376437.2", "ENSEMBL:ENSP00000394354", "ENSEMBL:ENSP00000394354.2", "ENSEMBL:ENSP00000433318", "ENSEMBL:ENSP00000433318.1", "ENSEMBL:ENSP00000436047", "ENSEMBL:ENSP00000436047.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7L2H7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "eukaryotic translation initiation factor 3 subunit M isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L2H7-1", "PR:Q7L2H7-1", "ENSEMBL:ENSP00000436049", "ENSEMBL:ENSP00000436049.1"], "information_content": 100.0}
{"id": "UniProtKB:P0DJI9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serum amyloid A-2 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0DJI9-1", "PR:P0DJI9-1", "ENSEMBL:ENSP00000256733", "ENSEMBL:ENSP00000256733.5", "ENSEMBL:ENSP00000436126", "ENSEMBL:ENSP00000436126.1", "ENSEMBL:ENSP00000437162", "ENSEMBL:ENSP00000437162.1"], "information_content": 100.0}
{"id": "NCBIGene:9537", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TP53I11", "equivalent_identifiers": ["NCBIGene:9537", "ENSEMBL:ENSG00000175274", "HGNC:16842", "OMIM:617867", "UMLS:C1424588", "UniProtKB:O14683", "PR:O14683", "ENSEMBL:ENSP00000309532", "ENSEMBL:ENSP00000309532.5", "ENSEMBL:ENSP00000379009", "ENSEMBL:ENSP00000379009.3", "ENSEMBL:ENSP00000433474", "ENSEMBL:ENSP00000433474.1", "ENSEMBL:ENSP00000436152", "ENSEMBL:ENSP00000436152.1", "ENSEMBL:ENSP00000481456", "ENSEMBL:ENSP00000481456.1", "UMLS:C1450457", "MESH:C483846", "UniProtKB:Q8N8U5", "UniProtKB:U3KQ32", "ENSEMBL:ENSP00000475501", "ENSEMBL:ENSP00000475501.1"], "information_content": 95.4}
{"id": "NCBIGene:9973", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCS", "equivalent_identifiers": ["NCBIGene:9973", "ENSEMBL:ENSG00000173992", "HGNC:1613", "OMIM:603864", "UMLS:C1413192", "UniProtKB:O14618", "PR:O14618", "ENSEMBL:ENSP00000436318", "ENSEMBL:ENSP00000436318.1", "UMLS:C0757931", "MESH:C114678"], "information_content": 90.9}
{"id": "NCBIGene:4975", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OMP", "equivalent_identifiers": ["NCBIGene:4975", "ENSEMBL:ENSG00000254550", "HGNC:8136", "OMIM:164340", "UMLS:C1417950", "UniProtKB:P47874", "PR:P47874", "ENSEMBL:ENSP00000436376", "ENSEMBL:ENSP00000436376.1", "UMLS:C1455248", "MESH:C497597"], "information_content": 95.4}
{"id": "NCBIGene:10578", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNLY", "equivalent_identifiers": ["NCBIGene:10578", "ENSEMBL:ENSG00000115523", "HGNC:4414", "OMIM:188855", "UMLS:C1415164", "UniProtKB:B4E3H9", "ENSEMBL:ENSP00000436423", "ENSEMBL:ENSP00000436423.1", "UniProtKB:P22749", "PR:P22749", "UMLS:C1437538", "MESH:C075005"]}
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{"id": "UniProtKB:Q9UBU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear RNA export factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBU9-1", "PR:Q9UBU9-1", "ENSEMBL:ENSP00000294172", "ENSEMBL:ENSP00000294172.2", "ENSEMBL:ENSP00000436679", "ENSEMBL:ENSP00000436679.1"], "information_content": 100.0}
{"id": "NCBIGene:387715", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARMS2", "equivalent_identifiers": ["NCBIGene:387715", "ENSEMBL:ENSG00000254636", "HGNC:32685", "OMIM:611313", "UMLS:C1824219", "UniProtKB:P0C7Q2", "PR:P0C7Q2", "ENSEMBL:ENSP00000436682", "ENSEMBL:ENSP00000436682.1", "UMLS:C1742453", "MESH:C514392"], "information_content": 100.0}
{"id": "NCBIGene:59082", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CARD18", "equivalent_identifiers": ["NCBIGene:59082", "ENSEMBL:ENSG00000255501", "HGNC:28861", "OMIM:605354", "UMLS:C1854396", "UniProtKB:P57730", "PR:P57730", "ENSEMBL:ENSP00000436691", "ENSEMBL:ENSP00000436691.1", "UMLS:C1447775", "MESH:C415523"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVX7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch repeat and BTB domain-containing protein 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVX7-3", "PR:Q9NVX7-3", "ENSEMBL:ENSP00000436713", "ENSEMBL:ENSP00000436713.1", "ENSEMBL:ENSP00000495464", "ENSEMBL:ENSP00000495464.1"], "information_content": 100.0}
{"id": "MONDO:0003073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "trilateral retinoblastoma", "equivalent_identifiers": ["MONDO:0003073", "DOID:4647", "UMLS:C2608045", "NCIT:C7019", "medgen:392856"], "information_content": 95.4}
{"id": "MONDO:0016724", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "papillary tumor of the pineal region", "equivalent_identifiers": ["MONDO:0016724", "DOID:0081251", "orphanet:251915", "EFO:1000451", "UMLS:C2985219", "NCIT:C92624", "SNOMEDCT:1156472008", "SNOMEDCT:450899004", "medgen:457445"], "information_content": 100.0}
{"id": "MONDO:0002073", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant pineal area germ cell neoplasm", "equivalent_identifiers": ["MONDO:0002073", "DOID:1660", "UMLS:C0349621", "UMLS:C1334612", "NCIT:C4659", "NCIT:C6767", "SNOMEDCT:277508009", "medgen:233159"], "information_content": 86.3}
{"id": "MONDO:0003766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thalamic cancer", "equivalent_identifiers": ["MONDO:0003766", "DOID:6098", "UMLS:C0346902", "UMLS:C1336733", "NCIT:C4576", "NCIT:C6221", "SNOMEDCT:188287005", "medgen:83429", "icd11.foundation:610018988"], "information_content": 80.6}
{"id": "NCBIGene:8843", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HCAR3", "equivalent_identifiers": ["NCBIGene:8843", "ENSEMBL:ENSG00000255398", "HGNC:16824", "OMIM:606039", "UMLS:C1333902", "UniProtKB:P49019", "PR:P49019", "ENSEMBL:ENSP00000436714", "ENSEMBL:ENSP00000436714.2", "UMLS:C1176162", "MESH:C473653"], "information_content": 100.0}
{"id": "MONDO:0015352", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "distal hereditary motor neuropathy type 2", "equivalent_identifiers": ["MONDO:0015352", "DOID:0111206", "orphanet:139525", "UMLS:C3711384", "MESH:C580044", "medgen:777992", "icd11.foundation:152961055"], "information_content": 89.4}
{"id": "UniProtKB:Q14667-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bridge-like lipid transfer protein family member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14667-1", "PR:Q14667-1", "ENSEMBL:ENSP00000436773", "ENSEMBL:ENSP00000436773.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXU6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 35 member F2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXU6-1", "PR:Q8IXU6-1", "ENSEMBL:ENSP00000436785", "ENSEMBL:ENSP00000436785.1"], "information_content": 100.0}
{"id": "UniProtKB:Q03164-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase 2A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q03164-3", "PR:Q03164-3", "ENSEMBL:ENSP00000436786", "ENSEMBL:ENSP00000436786.2"], "information_content": 100.0}
{"id": "MONDO:0001052", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic fungal otitis externa", "equivalent_identifiers": ["MONDO:0001052", "DOID:10519", "UMLS:C0155396", "MEDDRA:10009010", "SNOMEDCT:111898002", "medgen:509951", "ICD9:380.15"], "information_content": 100.0}
{"id": "NCBIGene:727897", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUC5B", "equivalent_identifiers": ["NCBIGene:727897", "ENSEMBL:ENSG00000117983", "HGNC:7516", "OMIM:600770", "UMLS:C1417498", "UniProtKB:Q9HC84", "PR:Q9HC84", "ENSEMBL:ENSP00000436812", "ENSEMBL:ENSP00000436812.1", "UMLS:C0254452", "MESH:C524578"], "information_content": 92.8}
{"id": "NCBIGene:27091", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CACNG5", "equivalent_identifiers": ["NCBIGene:27091", "ENSEMBL:ENSG00000075429", "HGNC:1409", "OMIM:606405", "UMLS:C1413075", "UniProtKB:A0A669KBF6", "ENSEMBL:ENSP00000501267", "ENSEMBL:ENSP00000501267.1", "UniProtKB:Q9UF02", "PR:Q9UF02", "ENSEMBL:ENSP00000303092", "ENSEMBL:ENSP00000303092.3", "ENSEMBL:ENSP00000436836", "ENSEMBL:ENSP00000436836.1", "UMLS:C1958465", "MESH:C521176"], "information_content": 95.4}
{"id": "NCBIGene:10658", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CELF1", "equivalent_identifiers": ["NCBIGene:10658", "ENSEMBL:ENSG00000149187", "HGNC:2549", "OMIM:601074", "UMLS:C1413824", "UniProtKB:G5EA30", "ENSEMBL:ENSP00000436864", "ENSEMBL:ENSP00000436864.1", "ENSEMBL:ENSP00000508525", "ENSEMBL:ENSP00000508525.1", "UMLS:C0532633", "MESH:C102843", "UniProtKB:Q92879", "PR:Q92879"]}
{"id": "NCBIGene:120237", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DBX1", "equivalent_identifiers": ["NCBIGene:120237", "ENSEMBL:ENSG00000109851", "HGNC:33185", "OMIM:619830", "UMLS:C2239330", "UniProtKB:A6NMT0", "PR:A6NMT0", "ENSEMBL:ENSP00000436881", "ENSEMBL:ENSP00000436881.2"], "information_content": 100.0}
{"id": "NCBIGene:85027", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM3", "equivalent_identifiers": ["NCBIGene:85027", "ENSEMBL:ENSG00000256235", "HGNC:30248", "OMIM:608324", "UMLS:C1842236", "UniProtKB:Q9BZL3", "PR:Q9BZL3", "ENSEMBL:ENSP00000436897", "ENSEMBL:ENSP00000436897.1", "ENSEMBL:ENSP00000496958", "ENSEMBL:ENSP00000496958.1", "UMLS:C1312587", "MESH:C430225"], "information_content": 95.4}
{"id": "UniProtKB:Q6P4R8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear factor related to kappa-B-binding protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6P4R8-2", "PR:Q6P4R8-2", "ENSEMBL:ENSP00000436926", "ENSEMBL:ENSP00000436926.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9W5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal assembly factor 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9W5-3", "PR:Q8N9W5-3", "ENSEMBL:ENSP00000436975", "ENSEMBL:ENSP00000436975.2"], "information_content": 100.0}
{"id": "UniProtKB:Q6BCY4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH-cytochrome b5 reductase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6BCY4-1", "PR:Q6BCY4-1", "ENSEMBL:ENSP00000299498", "ENSEMBL:ENSP00000299498.6", "ENSEMBL:ENSP00000437041", "ENSEMBL:ENSP00000437041.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92614-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000437073", "equivalent_identifiers": ["UniProtKB:Q92614-1", "ENSEMBL:ENSP00000437073", "ENSEMBL:ENSP00000437073.1"]}
{"id": "UniProtKB:Q15782-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chitinase-3-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15782-4", "PR:Q15782-4", "ENSEMBL:ENSP00000358763", "ENSEMBL:ENSP00000358763.4", "ENSEMBL:ENSP00000437082", "ENSEMBL:ENSP00000437082.1"], "information_content": 100.0}
{"id": "NCBIGene:389197", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C4orf50", "equivalent_identifiers": ["NCBIGene:389197", "ENSEMBL:ENSG00000181215", "HGNC:33766", "UMLS:C2828845", "UniProtKB:Q6ZRC1", "PR:Q6ZRC1", "ENSEMBL:ENSP00000437121", "ENSEMBL:ENSP00000437121.2", "ENSEMBL:ENSP00000518823", "ENSEMBL:ENSP00000518823.1"], "information_content": 100.0}
{"id": "UniProtKB:P11142-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heat shock cognate 71 kDa protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P11142-1", "PR:P11142-1", "ENSEMBL:ENSP00000227378", "ENSEMBL:ENSP00000227378.3", "ENSEMBL:ENSP00000432083", "ENSEMBL:ENSP00000432083.1", "ENSEMBL:ENSP00000437125", "ENSEMBL:ENSP00000437125.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVF5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor TIAM2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVF5-1", "PR:Q8IVF5-1", "ENSEMBL:ENSP00000437188", "ENSEMBL:ENSP00000437188.2", "ENSEMBL:ENSP00000507157", "ENSEMBL:ENSP00000507157.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPY3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "endoribonuclease Dicer isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPY3-1", "PR:Q9UPY3-1", "ENSEMBL:ENSP00000343745", "ENSEMBL:ENSP00000343745.3", "ENSEMBL:ENSP00000376783", "ENSEMBL:ENSP00000376783.1", "ENSEMBL:ENSP00000433060", "ENSEMBL:ENSP00000433060.3", "ENSEMBL:ENSP00000433926", "ENSEMBL:ENSP00000433926.2", "ENSEMBL:ENSP00000435681", "ENSEMBL:ENSP00000435681.1", "ENSEMBL:ENSP00000437256", "ENSEMBL:ENSP00000437256.1", "ENSEMBL:ENSP00000502730", "ENSEMBL:ENSP00000502730.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0C2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "182 kDa tankyrase-1-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0C2-1", "PR:Q9C0C2-1", "ENSEMBL:ENSP00000350990", "ENSEMBL:ENSP00000350990.3", "ENSEMBL:ENSP00000437271", "ENSEMBL:ENSP00000437271.1"], "information_content": 100.0}
{"id": "NCBIGene:25906", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANAPC15", "equivalent_identifiers": ["NCBIGene:25906", "ENSEMBL:ENSG00000110200", "HGNC:24531", "OMIM:614717", "UMLS:C1824317", "UniProtKB:F5GWM6", "ENSEMBL:ENSP00000441774", "ENSEMBL:ENSP00000441774.1", "UniProtKB:G5EA39", "ENSEMBL:ENSP00000437360", "ENSEMBL:ENSP00000437360.1", "UMLS:C3529947", "MESH:C577350", "UniProtKB:P60006", "PR:P60006"]}
{"id": "UniProtKB:P09104-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-enolase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P09104-1", "PR:P09104-1", "ENSEMBL:ENSP00000229277", "ENSEMBL:ENSP00000229277.1", "ENSEMBL:ENSP00000437402", "ENSEMBL:ENSP00000437402.1", "ENSEMBL:ENSP00000438873", "ENSEMBL:ENSP00000438873.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UF56-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/LRR-repeat protein 17 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UF56-1", "PR:Q9UF56-1", "ENSEMBL:ENSP00000437464", "ENSEMBL:ENSP00000437464.2"], "information_content": 100.0}
{"id": "UniProtKB:A1A4V9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cilia- and flagella-associated protein 119 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A1A4V9-1", "PR:A1A4V9-1", "ENSEMBL:ENSP00000437532", "ENSEMBL:ENSP00000437532.1"], "information_content": 100.0}
{"id": "MONDO:0033669", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Noonan syndrome 13", "equivalent_identifiers": ["MONDO:0033669", "DOID:0112161", "OMIM:619087", "UMLS:C5436773", "NCIT:C177121", "medgen:1761918"], "information_content": 100.0}
{"id": "MONDO:0017569", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "de Barsy syndrome", "equivalent_identifiers": ["MONDO:0017569", "DOID:0070143", "orphanet:2962", "UMLS:C0268354", "MESH:C535990", "MEDDRA:10083947", "SNOMEDCT:238826008", "medgen:82794"], "information_content": 92.8}
{"id": "UniProtKB:O95835-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase LATS1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95835-1", "PR:O95835-1", "ENSEMBL:ENSP00000253339", "ENSEMBL:ENSP00000253339.5", "ENSEMBL:ENSP00000437550", "ENSEMBL:ENSP00000437550.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPP2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IQ motif and SEC7 domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPP2-1", "PR:Q9UPP2-1", "ENSEMBL:ENSP00000437554", "ENSEMBL:ENSP00000437554.1"], "information_content": 100.0}
{"id": "UniProtKB:F5H6K3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F5H6K3_HUMAN C-type lectin domain-containing protein (trembl)", "equivalent_identifiers": ["UniProtKB:F5H6K3", "ENSEMBL:ENSP00000437563", "ENSEMBL:ENSP00000437563.1"]}
{"id": "UniProtKB:Q8N823-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 611 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N823-1", "PR:Q8N823-1", "ENSEMBL:ENSP00000322427", "ENSEMBL:ENSP00000322427.1", "ENSEMBL:ENSP00000437616", "ENSEMBL:ENSP00000437616.1", "ENSEMBL:ENSP00000439211", "ENSEMBL:ENSP00000439211.1", "ENSEMBL:ENSP00000498713", "ENSEMBL:ENSP00000498713.1"], "information_content": 100.0}
{"id": "NCBIGene:8091", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMGA2", "equivalent_identifiers": ["NCBIGene:8091", "ENSEMBL:ENSG00000149948", "HGNC:5009", "OMIM:600698", "UMLS:C1333906", "UniProtKB:F5H2A4", "ENSEMBL:ENSP00000377205", "ENSEMBL:ENSP00000377205.3", "UniProtKB:F5H6H0", "ENSEMBL:ENSP00000437621", "ENSEMBL:ENSP00000437621.1", "UniProtKB:P52926", "PR:P52926", "UMLS:C4742454", "MESH:C000628350", "UniProtKB:Q1M183"]}
{"id": "NCBIGene:79549", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR6J1", "equivalent_identifiers": ["NCBIGene:79549", "ENSEMBL:ENSG00000255804", "HGNC:14707", "UMLS:C1422861", "UniProtKB:Q8NGC5", "PR:Q8NGC5", "ENSEMBL:ENSP00000437629", "ENSEMBL:ENSP00000437629.1"], "information_content": 100.0}
{"id": "NCBIGene:1911", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHC1", "equivalent_identifiers": ["NCBIGene:1911", "ENSEMBL:ENSG00000111752", "HGNC:3182", "OMIM:602978", "UMLS:C1414264", "UniProtKB:P78364", "PR:P78364", "ENSEMBL:ENSP00000437659", "ENSEMBL:ENSP00000437659.1", "ENSEMBL:ENSP00000440674", "ENSEMBL:ENSP00000440674.1", "UMLS:C1453336", "MESH:C491239", "UniProtKB:Q6GMQ3"], "information_content": 95.4}
{"id": "UniProtKB:P28223-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-hydroxytryptamine receptor 2A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P28223-1", "PR:P28223-1", "ENSEMBL:ENSP00000437737", "ENSEMBL:ENSP00000437737.1"], "information_content": 100.0}
{"id": "UniProtKB:Q12872-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "splicing factor, suppressor of white-apricot homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q12872-2", "PR:Q12872-2", "ENSEMBL:ENSP00000437738", "ENSEMBL:ENSP00000437738.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5H9F3-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BCL-6 corepressor-like protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5H9F3-3", "PR:Q5H9F3-3", "ENSEMBL:ENSP00000437775", "ENSEMBL:ENSP00000437775.2"], "information_content": 100.0}
{"id": "MONDO:0010292", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Uruguay Faciocardiomusculoskeletal syndrome", "equivalent_identifiers": ["MONDO:0010292", "DOID:0112148", "OMIM:300280", "UMLS:C1846010", "MESH:C564544", "medgen:335320"], "information_content": 100.0}
{"id": "NCBIGene:3948", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LDHC", "equivalent_identifiers": ["NCBIGene:3948", "ENSEMBL:ENSG00000166796", "HGNC:6544", "OMIM:150150", "UMLS:C1416820", "UniProtKB:A0A140VKA7", "UniProtKB:P07864", "PR:P07864", "ENSEMBL:ENSP00000280704", "ENSEMBL:ENSP00000280704.3", "ENSEMBL:ENSP00000437783", "ENSEMBL:ENSP00000437783.1"], "information_content": 100.0}
{"id": "NCBIGene:114928", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPRASP2", "equivalent_identifiers": ["NCBIGene:114928", "ENSEMBL:ENSG00000158301", "HGNC:25169", "OMIM:300969", "UMLS:C1539613", "UniProtKB:B3KW05", "UMLS:C1870882", "MESH:C516849", "UniProtKB:Q96D09", "PR:Q96D09", "ENSEMBL:ENSP00000339057", "ENSEMBL:ENSP00000339057.3", "ENSEMBL:ENSP00000437394", "ENSEMBL:ENSP00000437394.1", "ENSEMBL:ENSP00000437872", "ENSEMBL:ENSP00000437872.1", "ENSEMBL:ENSP00000507692", "ENSEMBL:ENSP00000507692.1", "ENSEMBL:ENSP00000508139", "ENSEMBL:ENSP00000508139.1"], "information_content": 95.4}
{"id": "MONDO:0010378", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked hereditary sensory and autonomic neuropathy with hearing loss", "equivalent_identifiers": ["MONDO:0010378", "DOID:0111741", "OMIM:300614", "orphanet:139583", "UMLS:C1845095", "UMLS:C4304400", "MESH:C564472", "NCIT:C180843", "SNOMEDCT:719838008", "medgen:930069"], "information_content": 100.0}
{"id": "UniProtKB:Q16665-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hypoxia-inducible factor 1-alpha isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q16665-3", "PR:Q16665-3", "ENSEMBL:ENSP00000437955", "ENSEMBL:ENSP00000437955.1"], "information_content": 100.0}
{"id": "NCBIGene:25938", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HEATR5A", "equivalent_identifiers": ["NCBIGene:25938", "ENSEMBL:ENSG00000129493", "HGNC:20276", "UMLS:C1825457", "UniProtKB:F5H619", "ENSEMBL:ENSP00000437968", "ENSEMBL:ENSP00000437968.2", "UniProtKB:Q86XA9", "PR:Q86XA9"]}
{"id": "UniProtKB:P26715-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NKG2-A/NKG2-B type II integral membrane protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P26715-1", "PR:P26715-1", "ENSEMBL:ENSP00000352064", "ENSEMBL:ENSP00000352064.3", "ENSEMBL:ENSP00000438038", "ENSEMBL:ENSP00000438038.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6B0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 91 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6B0-1", "PR:Q7Z6B0-1", "ENSEMBL:ENSP00000370658", "ENSEMBL:ENSP00000370658.1", "ENSEMBL:ENSP00000438040", "ENSEMBL:ENSP00000438040.1", "ENSEMBL:ENSP00000445660", "ENSEMBL:ENSP00000445660.2"], "information_content": 100.0}
{"id": "NCBIGene:80227", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAAF1", "equivalent_identifiers": ["NCBIGene:80227", "ENSEMBL:ENSG00000175575", "HGNC:25687", "OMIM:619772", "UMLS:C1823835", "UniProtKB:F5H0C4", "ENSEMBL:ENSP00000438071", "ENSEMBL:ENSP00000438071.1", "UniProtKB:Q9BRP4", "PR:Q9BRP4", "UMLS:C1569912", "MESH:C501074"]}
{"id": "UniProtKB:Q9NZ52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ADP-ribosylation factor-binding protein GGA3 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9NZ52-1", "PR:Q9NZ52-1", "ENSEMBL:ENSP00000438085", "ENSEMBL:ENSP00000438085.3", "ENSEMBL:ENSP00000496890", "ENSEMBL:ENSP00000496890.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4H5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial import receptor subunit TOM5 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4H5-2", "PR:Q8N4H5-2", "ENSEMBL:ENSP00000438204", "ENSEMBL:ENSP00000438204.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H8J5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MANSC domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H8J5-1", "PR:Q9H8J5-1", "ENSEMBL:ENSP00000438205", "ENSEMBL:ENSP00000438205.1", "ENSEMBL:ENSP00000487587", "ENSEMBL:ENSP00000487587.1"], "information_content": 100.0}
{"id": "NCBIGene:80320", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SP6", "equivalent_identifiers": ["NCBIGene:80320", "ENSEMBL:ENSG00000189120", "HGNC:14530", "OMIM:608613", "UMLS:C1422729", "UniProtKB:B3KXP2", "UniProtKB:Q3SY56", "PR:Q3SY56", "ENSEMBL:ENSP00000340799", "ENSEMBL:ENSP00000340799.2", "ENSEMBL:ENSP00000438209", "ENSEMBL:ENSP00000438209.1"], "information_content": 95.4}
{"id": "UniProtKB:O43852-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calumenin isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O43852-4", "PR:O43852-4", "ENSEMBL:ENSP00000438248", "ENSEMBL:ENSP00000438248.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UDY2-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tight junction protein 2 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q9UDY2-7", "PR:Q9UDY2-7", "ENSEMBL:ENSP00000438262", "ENSEMBL:ENSP00000438262.1"], "information_content": 100.0}
{"id": "UniProtKB:A6NDA9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:A6NDA9-2", "PR:A6NDA9-2", "ENSEMBL:ENSP00000438264", "ENSEMBL:ENSP00000438264.1"], "information_content": 100.0}
{"id": "NCBIGene:166379", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BBS12", "equivalent_identifiers": ["NCBIGene:166379", "ENSEMBL:ENSG00000181004", "HGNC:26648", "OMIM:610683", "UMLS:C1826414", "UniProtKB:Q6ZW61", "PR:Q6ZW61", "ENSEMBL:ENSP00000319062", "ENSEMBL:ENSP00000319062.3", "ENSEMBL:ENSP00000438273", "ENSEMBL:ENSP00000438273.1", "UMLS:C1872068", "MESH:C517002"], "information_content": 95.4}
{"id": "NCBIGene:4107", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEA8", "equivalent_identifiers": ["NCBIGene:4107", "ENSEMBL:ENSG00000156009", "HGNC:6806", "OMIM:300341", "UMLS:C1416979", "UniProtKB:B2R9W4", "UniProtKB:P43361", "PR:P43361", "ENSEMBL:ENSP00000286482", "ENSEMBL:ENSP00000286482.1", "ENSEMBL:ENSP00000438293", "ENSEMBL:ENSP00000438293.1", "ENSEMBL:ENSP00000443776", "ENSEMBL:ENSP00000443776.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UI30-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "multifunctional methyltransferase subunit TRM112-like protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UI30-1", "PR:Q9UI30-1", "ENSEMBL:ENSP00000438349", "ENSEMBL:ENSP00000438349.2", "ENSEMBL:ENSP00000520509", "ENSEMBL:ENSP00000520509.1"], "information_content": 100.0}
{"id": "UniProtKB:Q12756-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF1A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q12756-3", "PR:Q12756-3", "ENSEMBL:ENSP00000438388", "ENSEMBL:ENSP00000438388.1", "ENSEMBL:ENSP00000497953", "ENSEMBL:ENSP00000497953.2", "ENSEMBL:ENSP00000501778", "ENSEMBL:ENSP00000501778.2", "ENSEMBL:ENSP00000501849", "ENSEMBL:ENSP00000501849.2", "ENSEMBL:ENSP00000501962", "ENSEMBL:ENSP00000501962.2", "ENSEMBL:ENSP00000502048", "ENSEMBL:ENSP00000502048.2"], "information_content": 100.0}
{"id": "UniProtKB:P53990-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IST1 homolog isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P53990-5", "PR:P53990-5", "ENSEMBL:ENSP00000438399", "ENSEMBL:ENSP00000438399.1"], "information_content": 100.0}
{"id": "NCBIGene:100132463", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLDN24", "equivalent_identifiers": ["NCBIGene:100132463", "ENSEMBL:ENSG00000185758", "HGNC:37200", "UMLS:C2829169", "UniProtKB:A6NM45", "PR:A6NM45", "ENSEMBL:ENSP00000438400", "ENSEMBL:ENSP00000438400.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13291-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signaling lymphocytic activation molecule isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q13291-4", "PR:Q13291-4", "ENSEMBL:ENSP00000438406", "ENSEMBL:ENSP00000438406.2"], "information_content": 100.0}
{"id": "NCBIGene:26521", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMM8B", "equivalent_identifiers": ["NCBIGene:26521", "ENSEMBL:ENSG00000150779", "HGNC:11818", "OMIM:606659", "UMLS:C1420741", "UniProtKB:G3XAN8", "ENSEMBL:ENSP00000438455", "ENSEMBL:ENSP00000438455.1", "UMLS:C1138297", "MESH:C462543", "UniProtKB:Q9Y5J9", "PR:Q9Y5J9", "ENSEMBL:ENSP00000422122", "ENSEMBL:ENSP00000422122.2"]}
{"id": "UniProtKB:Q96HS1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase PGAM5, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96HS1-1", "PR:Q96HS1-1", "ENSEMBL:ENSP00000438465", "ENSEMBL:ENSP00000438465.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5VTY9-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-cysteine N-palmitoyltransferase HHAT isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q5VTY9-7", "PR:Q5VTY9-7", "ENSEMBL:ENSP00000438468", "ENSEMBL:ENSP00000438468.1", "ENSEMBL:ENSP00000486611", "ENSEMBL:ENSP00000486611.1"], "information_content": 100.0}
{"id": "NCBIGene:3838", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KPNA2", "equivalent_identifiers": ["NCBIGene:3838", "ENSEMBL:ENSG00000182481", "HGNC:6395", "OMIM:600685", "UMLS:C1416700", "UniProtKB:P52292", "PR:P52292", "ENSEMBL:ENSP00000332455", "ENSEMBL:ENSP00000332455.3", "ENSEMBL:ENSP00000438483", "ENSEMBL:ENSP00000438483.2", "ENSEMBL:ENSP00000462331", "ENSEMBL:ENSP00000462331.2", "ENSEMBL:ENSP00000463602", "ENSEMBL:ENSP00000463602.2", "ENSEMBL:ENSP00000504655", "ENSEMBL:ENSP00000504655.1", "ENSEMBL:ENSP00000504685", "ENSEMBL:ENSP00000504685.1", "UMLS:C1448914", "MESH:C490630"], "information_content": 86.3}
{"id": "UniProtKB:F5H423", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F5H423_HUMAN ADP-ribosylation factor 3 (trembl)", "equivalent_identifiers": ["UniProtKB:F5H423", "ENSEMBL:ENSP00000438507", "ENSEMBL:ENSP00000438507.1"]}
{"id": "UniProtKB:O75925-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 SUMO-protein ligase PIAS1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75925-2", "PR:O75925-2", "ENSEMBL:ENSP00000438574", "ENSEMBL:ENSP00000438574.1"], "information_content": 100.0}
{"id": "NCBIGene:122618", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLD4", "equivalent_identifiers": ["NCBIGene:122618", "ENSEMBL:ENSG00000166428", "HGNC:23792", "OMIM:618488", "UMLS:C1826594", "UniProtKB:B4DI07", "UMLS:C3657684", "MESH:C579637", "UniProtKB:B4DJQ6", "UniProtKB:F5H2B5", "ENSEMBL:ENSP00000438677", "ENSEMBL:ENSP00000438677.1", "UniProtKB:Q96BZ4", "PR:Q96BZ4", "ENSEMBL:ENSP00000376372", "ENSEMBL:ENSP00000376372.5"]}
{"id": "UniProtKB:P49748-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P49748-3", "PR:P49748-3", "ENSEMBL:ENSP00000438689", "ENSEMBL:ENSP00000438689.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8ND04-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nonsense-mediated mRNA decay factor SMG8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8ND04-1", "PR:Q8ND04-1", "ENSEMBL:ENSP00000300917", "ENSEMBL:ENSP00000300917.4", "ENSEMBL:ENSP00000438748", "ENSEMBL:ENSP00000438748.2"], "information_content": 100.0}
{"id": "UniProtKB:P86479", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PR20C_HUMAN Proline-rich protein 20C (sprot)", "equivalent_identifiers": ["UniProtKB:P86479", "PR:P86479", "ENSEMBL:ENSP00000438757", "ENSEMBL:ENSP00000438757.1", "ENSEMBL:ENSP00000480729", "ENSEMBL:ENSP00000480729.1"], "information_content": 100.0}
{"id": "MONDO:0010654", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Partington syndrome", "equivalent_identifiers": ["MONDO:0010654", "DOID:14744", "OMIM:309510", "orphanet:94083", "UMLS:C0796250", "MESH:C536300", "medgen:163237"], "information_content": 100.0}
{"id": "NCBIGene:6927", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HNF1A", "equivalent_identifiers": ["NCBIGene:6927", "ENSEMBL:ENSG00000135100", "HGNC:11621", "OMIM:142410", "UMLS:C1420631", "UniProtKB:A0A0A0MTK8", "UniProtKB:E0YMI7", "UniProtKB:F5H0K0", "ENSEMBL:ENSP00000438804", "ENSEMBL:ENSP00000438804.1", "UniProtKB:P20823", "PR:P20823", "UMLS:C1451774", "MESH:C496487"]}
{"id": "UniProtKB:Q9H813-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proton-activated chloride channel isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H813-2", "PR:Q9H813-2", "ENSEMBL:ENSP00000438863", "ENSEMBL:ENSP00000438863.1"], "information_content": 100.0}
{"id": "UniProtKB:P51513-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein Nova-1 isoform 4 (human)", "equivalent_identifiers": ["UniProtKB:P51513-4", "PR:P51513-4", "ENSEMBL:ENSP00000438875", "ENSEMBL:ENSP00000438875.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96JB5-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CDK5 regulatory subunit-associated protein 3 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96JB5-4", "PR:Q96JB5-4", "ENSEMBL:ENSP00000438886", "ENSEMBL:ENSP00000438886.2"], "information_content": 100.0}
{"id": "UniProtKB:O00305-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent L-type calcium channel subunit beta-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00305-1", "PR:O00305-1", "ENSEMBL:ENSP00000438949", "ENSEMBL:ENSP00000438949.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6NZY4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger CCHC domain-containing protein 8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6NZY4-2", "PR:Q6NZY4-2", "ENSEMBL:ENSP00000438993", "ENSEMBL:ENSP00000438993.1", "ENSEMBL:ENSP00000441423", "ENSEMBL:ENSP00000441423.1"], "information_content": 100.0}
{"id": "UniProtKB:Q71U36-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin alpha-1A chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q71U36-1", "PR:Q71U36-1", "ENSEMBL:ENSP00000301071", "ENSEMBL:ENSP00000301071.7", "ENSEMBL:ENSP00000439020", "ENSEMBL:ENSP00000439020.2", "ENSEMBL:ENSP00000520499", "ENSEMBL:ENSP00000520499.1"], "information_content": 100.0}
{"id": "UniProtKB:P78560-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "death domain-containing protein CRADD isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P78560-1", "PR:P78560-1", "ENSEMBL:ENSP00000327647", "ENSEMBL:ENSP00000327647.3", "ENSEMBL:ENSP00000439068", "ENSEMBL:ENSP00000439068.2"], "information_content": 100.0}
{"id": "NCBIGene:4778", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NFE2", "equivalent_identifiers": ["NCBIGene:4778", "ENSEMBL:ENSG00000123405", "HGNC:7780", "OMIM:601490", "UMLS:C1417699", "UniProtKB:A8K3E0", "UMLS:C1530715", "MESH:C494692", "UniProtKB:Q16621", "PR:Q16621", "ENSEMBL:ENSP00000312436", "ENSEMBL:ENSP00000312436.4", "ENSEMBL:ENSP00000397185", "ENSEMBL:ENSP00000397185.2", "ENSEMBL:ENSP00000439120", "ENSEMBL:ENSP00000439120.2", "ENSEMBL:ENSP00000447558", "ENSEMBL:ENSP00000447558.1", "UMLS:C2985445"], "information_content": 92.8}
{"id": "UniProtKB:Q9H503-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "barrier-to-autointegration factor-like protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H503-2", "PR:Q9H503-2", "ENSEMBL:ENSP00000439128", "ENSEMBL:ENSP00000439128.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15813-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin-specific chaperone E isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15813-2", "PR:Q15813-2", "ENSEMBL:ENSP00000439170", "ENSEMBL:ENSP00000439170.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6S8J3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POTE ankyrin domain family member E isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6S8J3-1", "PR:Q6S8J3-1", "ENSEMBL:ENSP00000439189", "ENSEMBL:ENSP00000439189.1", "ENSEMBL:ENSP00000507284", "ENSEMBL:ENSP00000507284.1"], "information_content": 100.0}
{"id": "NCBIGene:25792", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIZ1", "equivalent_identifiers": ["NCBIGene:25792", "ENSEMBL:ENSG00000148337", "HGNC:16744", "OMIM:611420", "UMLS:C1424515", "UniProtKB:B4E0A3", "UniProtKB:B7Z3U7", "UniProtKB:F5H2X7", "ENSEMBL:ENSP00000439244", "ENSEMBL:ENSP00000439244.2", "UniProtKB:Q9BTG3", "UniProtKB:Q9ULV3", "PR:Q9ULV3", "UMLS:C3813547"]}
{"id": "UniProtKB:Q9H426-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulating synaptic membrane exocytosis protein 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H426-2", "PR:Q9H426-2", "ENSEMBL:ENSP00000439287", "ENSEMBL:ENSP00000439287.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2M2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SSUH2 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2M2-2", "PR:Q9Y2M2-2", "ENSEMBL:ENSP00000439378", "ENSEMBL:ENSP00000439378.1"], "information_content": 100.0}
{"id": "NCBIGene:63934", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF667", "equivalent_identifiers": ["NCBIGene:63934", "ENSEMBL:ENSG00000198046", "HGNC:28854", "OMIM:611024", "UMLS:C1538231", "UniProtKB:Q5HYK9", "PR:Q5HYK9", "ENSEMBL:ENSP00000292069", "ENSEMBL:ENSP00000292069.5", "ENSEMBL:ENSP00000439402", "ENSEMBL:ENSP00000439402.1"], "information_content": 100.0}
{"id": "UniProtKB:P52736-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 133 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P52736-3", "PR:P52736-3", "ENSEMBL:ENSP00000439427", "ENSEMBL:ENSP00000439427.3", "ENSEMBL:ENSP00000485741", "ENSEMBL:ENSP00000485741.1"], "information_content": 100.0}
{"id": "NCBIGene:645142", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPIAL4D", "equivalent_identifiers": ["NCBIGene:645142", "ENSEMBL:ENSG00000289549", "HGNC:33998", "UMLS:C2678574", "UniProtKB:F5H284", "PR:F5H284", "ENSEMBL:ENSP00000439444", "ENSEMBL:ENSP00000439444.1"], "information_content": 100.0}
{"id": "UniProtKB:Q16342-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "programmed cell death protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16342-1", "PR:Q16342-1", "ENSEMBL:ENSP00000439467", "ENSEMBL:ENSP00000439467.1"], "information_content": 100.0}
{"id": "NCBIGene:1657", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DMXL1", "equivalent_identifiers": ["NCBIGene:1657", "ENSEMBL:ENSG00000172869", "HGNC:2937", "OMIM:605671", "UMLS:C1414089", "UniProtKB:B2RWN7", "UMLS:C1309502", "MESH:C408893", "UniProtKB:F1T0K4", "UniProtKB:F5H269", "ENSEMBL:ENSP00000439479", "ENSEMBL:ENSP00000439479.1", "UniProtKB:Q9Y485", "PR:Q9Y485", "ENSEMBL:ENSP00000309690", "ENSEMBL:ENSP00000309690.8"]}
{"id": "UniProtKB:Q92619-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho GTPase-activating protein 45 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92619-2", "PR:Q92619-2", "ENSEMBL:ENSP00000439601", "ENSEMBL:ENSP00000439601.1"], "information_content": 100.0}
{"id": "UniProtKB:O94827-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family G member 5 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O94827-3", "PR:O94827-3", "ENSEMBL:ENSP00000366961", "ENSEMBL:ENSP00000366961.1", "ENSEMBL:ENSP00000383706", "ENSEMBL:ENSP00000383706.4", "ENSEMBL:ENSP00000439625", "ENSEMBL:ENSP00000439625.2"], "information_content": 100.0}
{"id": "NCBIGene:757", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM50B", "equivalent_identifiers": ["NCBIGene:757", "ENSEMBL:ENSG00000142188", "HGNC:1280", "OMIM:617894", "UMLS:C1823311", "UniProtKB:F8WDH1", "ENSEMBL:ENSP00000409942", "ENSEMBL:ENSP00000409942.1", "ENSEMBL:ENSP00000461292", "ENSEMBL:ENSP00000461292.1", "UniProtKB:P56557", "PR:P56557", "ENSEMBL:ENSP00000397773", "ENSEMBL:ENSP00000397773.1", "ENSEMBL:ENSP00000439768", "ENSEMBL:ENSP00000439768.2", "ENSEMBL:ENSP00000458900", "ENSEMBL:ENSP00000458900.1", "ENSEMBL:ENSP00000460121", "ENSEMBL:ENSP00000460121.1", "UniProtKB:Q2V8N0"], "information_content": 92.8}
{"id": "UniProtKB:Q9ULU4-19", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MYND-type zinc finger-containing chromatin reader ZMYND8 isoform h19 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULU4-19", "PR:Q9ULU4-19", "ENSEMBL:ENSP00000439800", "ENSEMBL:ENSP00000439800.1"], "information_content": 100.0}
{"id": "NCBIGene:10523", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHERP", "equivalent_identifiers": ["NCBIGene:10523", "ENSEMBL:ENSG00000085872", "HGNC:16930", "OMIM:618539", "UMLS:C1424645", "UniProtKB:Q8IWX8", "PR:Q8IWX8", "ENSEMBL:ENSP00000439856", "ENSEMBL:ENSP00000439856.2", "UMLS:C1439019", "MESH:C410225"], "information_content": 89.4}
{"id": "UniProtKB:Q9NSC5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homer protein homolog 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSC5-1", "PR:Q9NSC5-1", "ENSEMBL:ENSP00000376162", "ENSEMBL:ENSP00000376162.2", "ENSEMBL:ENSP00000439937", "ENSEMBL:ENSP00000439937.1", "ENSEMBL:ENSP00000446026", "ENSEMBL:ENSP00000446026.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N8B7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription elongation factor A N-terminal and central domain-containing protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8B7-2", "PR:Q8N8B7-2", "ENSEMBL:ENSP00000440038", "ENSEMBL:ENSP00000440038.2"], "information_content": 100.0}
{"id": "UniProtKB:P16615-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P16615-1", "PR:P16615-1", "ENSEMBL:ENSP00000440045", "ENSEMBL:ENSP00000440045.2"], "information_content": 100.0}
{"id": "UniProtKB:O95741-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "copine-6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O95741-2", "PR:O95741-2", "ENSEMBL:ENSP00000440077", "ENSEMBL:ENSP00000440077.1", "ENSEMBL:ENSP00000494138", "ENSEMBL:ENSP00000494138.1"], "information_content": 100.0}
{"id": "NCBIGene:84498", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM120B", "equivalent_identifiers": ["NCBIGene:84498", "ENSEMBL:ENSG00000112584", "HGNC:21109", "OMIM:612266", "UMLS:C1825257", "UniProtKB:A0A0D9SEJ5", "ENSEMBL:ENSP00000477556", "ENSEMBL:ENSP00000477556.2", "ENSEMBL:ENSP00000485745", "ENSEMBL:ENSP00000485745.1", "UMLS:C5196548", "MESH:C000629619", "UniProtKB:B4DG54", "UniProtKB:B4DSS4", "UniProtKB:F5GY05", "ENSEMBL:ENSP00000440125", "ENSEMBL:ENSP00000440125.1", "ENSEMBL:ENSP00000479118", "ENSEMBL:ENSP00000479118.1", "UniProtKB:Q96EK7", "PR:Q96EK7"]}
{"id": "MONDO:0024456", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior segment dysgenesis 3", "equivalent_identifiers": ["MONDO:0024456", "DOID:0080608", "OMIM:601631", "UMLS:C1866560", "UMLS:C1866561", "UMLS:C5975707", "MESH:C535535", "MESH:C566650", "medgen:355748"], "information_content": 100.0}
{"id": "NCBIGene:171482", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM9A", "equivalent_identifiers": ["NCBIGene:171482", "ENSEMBL:ENSG00000183304", "HGNC:18403", "OMIM:300477", "UMLS:C1425499", "UniProtKB:Q8IZU1", "PR:Q8IZU1", "ENSEMBL:ENSP00000370391", "ENSEMBL:ENSP00000370391.3", "ENSEMBL:ENSP00000440163", "ENSEMBL:ENSP00000440163.1", "UMLS:C1174696", "MESH:C502063"], "information_content": 100.0}
{"id": "UniProtKB:A4D1S5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-19 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:A4D1S5-1", "PR:A4D1S5-1", "ENSEMBL:ENSP00000348778", "ENSEMBL:ENSP00000348778.3", "ENSEMBL:ENSP00000440167", "ENSEMBL:ENSP00000440167.1"], "information_content": 100.0}
{"id": "NCBIGene:5173", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDYN", "equivalent_identifiers": ["NCBIGene:5173", "ENSEMBL:ENSG00000101327", "HGNC:8820", "OMIM:131340", "UMLS:C1418447", "UniProtKB:P01213", "PR:P01213", "ENSEMBL:ENSP00000217305", "ENSEMBL:ENSP00000217305.2", "ENSEMBL:ENSP00000440185", "ENSEMBL:ENSP00000440185.1", "ENSEMBL:ENSP00000442259", "ENSEMBL:ENSP00000442259.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2I9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 30 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2I9-2", "PR:Q9Y2I9-2", "ENSEMBL:ENSP00000440207", "ENSEMBL:ENSP00000440207.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A0A6YYJ8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A0A6YYJ8_HUMAN Luc7-like protein (trembl)", "equivalent_identifiers": ["UniProtKB:A0A0A6YYJ8", "ENSEMBL:ENSP00000440222"]}
{"id": "UniProtKB:Q16798-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADP-dependent malic enzyme, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q16798-1", "PR:Q16798-1", "ENSEMBL:ENSP00000376998", "ENSEMBL:ENSP00000376998.2", "ENSEMBL:ENSP00000440246", "ENSEMBL:ENSP00000440246.1"], "information_content": 100.0}
{"id": "UniProtKB:O14492-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SH2B adapter protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14492-1", "PR:O14492-1", "ENSEMBL:ENSP00000401883", "ENSEMBL:ENSP00000401883.3", "ENSEMBL:ENSP00000440273", "ENSEMBL:ENSP00000440273.4"], "information_content": 100.0}
{"id": "UniProtKB:Q9NP78-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ABC-type oligopeptide transporter ABCB9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP78-1", "PR:Q9NP78-1", "ENSEMBL:ENSP00000280560", "ENSEMBL:ENSP00000280560.8", "ENSEMBL:ENSP00000376234", "ENSEMBL:ENSP00000376234.3", "ENSEMBL:ENSP00000440288", "ENSEMBL:ENSP00000440288.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14542-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "equilibrative nucleoside transporter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14542-1", "PR:Q14542-1", "ENSEMBL:ENSP00000350024", "ENSEMBL:ENSP00000350024.2", "ENSEMBL:ENSP00000439456", "ENSEMBL:ENSP00000439456.1", "ENSEMBL:ENSP00000440329", "ENSEMBL:ENSP00000440329.1"], "information_content": 100.0}
{"id": "UniProtKB:O15068-9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide exchange factor DBS isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:O15068-9", "PR:O15068-9", "ENSEMBL:ENSP00000440374", "ENSEMBL:ENSP00000440374.2"], "information_content": 100.0}
{"id": "NCBIGene:54851", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKRD49", "equivalent_identifiers": ["NCBIGene:54851", "ENSEMBL:ENSG00000168876", "HGNC:25970", "OMIM:619571", "UMLS:C1823684", "UniProtKB:Q8WVL7", "PR:Q8WVL7", "ENSEMBL:ENSP00000303518", "ENSEMBL:ENSP00000303518.3", "ENSEMBL:ENSP00000440396", "ENSEMBL:ENSP00000440396.1", "UMLS:C1448130", "MESH:C435903"], "information_content": 100.0}
{"id": "MONDO:0000295", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acanthocephaliasis", "equivalent_identifiers": ["MONDO:0000295", "DOID:0050254", "UMLS:C0277331", "SNOMEDCT:105713003", "medgen:548052", "icd11.foundation:1026340475"], "information_content": 100.0}
{"id": "UniProtKB:Q96FC9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent DNA helicase DDX11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FC9-1", "PR:Q96FC9-1", "ENSEMBL:ENSP00000440402", "ENSEMBL:ENSP00000440402.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WTT0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 4 member C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WTT0-1", "PR:Q8WTT0-1", "ENSEMBL:ENSP00000353500", "ENSEMBL:ENSP00000353500.3", "ENSEMBL:ENSP00000440428", "ENSEMBL:ENSP00000440428.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6VMQ6-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "activating transcription factor 7-interacting protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6VMQ6-4", "PR:Q6VMQ6-4", "ENSEMBL:ENSP00000440440", "ENSEMBL:ENSP00000440440.1"], "information_content": 100.0}
{"id": "UniProtKB:O00233-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "26S proteasome non-ATPase regulatory subunit 9 isoform hp27-L (human)", "equivalent_identifiers": ["UniProtKB:O00233-1", "PR:O00233-1", "ENSEMBL:ENSP00000440485", "ENSEMBL:ENSP00000440485.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96MZ0-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ganglioside-induced differentiation-associated protein 1-like 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96MZ0-4", "PR:Q96MZ0-4", "ENSEMBL:ENSP00000440498", "ENSEMBL:ENSP00000440498.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9NY33-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dipeptidyl peptidase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY33-1", "PR:Q9NY33-1", "ENSEMBL:ENSP00000432782", "ENSEMBL:ENSP00000432782.2", "ENSEMBL:ENSP00000440502", "ENSEMBL:ENSP00000440502.1"], "information_content": 100.0}
{"id": "NCBIGene:497189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIFAB", "equivalent_identifiers": ["NCBIGene:497189", "ENSEMBL:ENSG00000255833", "HGNC:34024", "OMIM:612663", "UMLS:C2675209", "UniProtKB:Q6ZNK6", "PR:Q6ZNK6", "ENSEMBL:ENSP00000440509", "ENSEMBL:ENSP00000440509.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14839-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromodomain-helicase-DNA-binding protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14839-1", "PR:Q14839-1", "ENSEMBL:ENSP00000440542", "ENSEMBL:ENSP00000440542.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14833-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metabotropic glutamate receptor 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14833-1", "PR:Q14833-1", "ENSEMBL:ENSP00000440556", "ENSEMBL:ENSP00000440556.1"], "information_content": 100.0}
{"id": "NCBIGene:1571", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP2E1", "equivalent_identifiers": ["NCBIGene:1571", "ENSEMBL:ENSG00000130649", "HGNC:2631", "OMIM:124040", "UMLS:C0919426", "UniProtKB:P05181", "PR:P05181", "ENSEMBL:ENSP00000252945", "ENSEMBL:ENSP00000252945.3", "ENSEMBL:ENSP00000440689", "ENSEMBL:ENSP00000440689.1", "UMLS:C3887686"], "information_content": 95.4}
{"id": "UniProtKB:Q8IYJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptotagmin-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYJ3-1", "PR:Q8IYJ3-1", "ENSEMBL:ENSP00000440704", "ENSEMBL:ENSP00000440704.1", "ENSEMBL:ENSP00000481032", "ENSEMBL:ENSP00000481032.1"], "information_content": 100.0}
{"id": "UniProtKB:O60447-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ecotropic viral integration site 5 protein homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60447-2", "PR:O60447-2", "ENSEMBL:ENSP00000440826", "ENSEMBL:ENSP00000440826.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UGQ2-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium channel flower homolog isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGQ2-4", "PR:Q9UGQ2-4", "ENSEMBL:ENSP00000440832", "ENSEMBL:ENSP00000440832.1", "ENSEMBL:ENSP00000485922", "ENSEMBL:ENSP00000485922.1"], "information_content": 100.0}
{"id": "UniProtKB:O15231-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 185 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:O15231-6", "PR:O15231-6", "ENSEMBL:ENSP00000440847", "ENSEMBL:ENSP00000440847.1", "ENSEMBL:ENSP00000517997", "ENSEMBL:ENSP00000517997.1"], "information_content": 100.0}
{"id": "NCBIGene:55010", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PARPBP", "equivalent_identifiers": ["NCBIGene:55010", "ENSEMBL:ENSG00000185480", "HGNC:26074", "OMIM:613687", "UMLS:C1824369", "UniProtKB:B4DT40", "ENSEMBL:ENSP00000444576", "ENSEMBL:ENSP00000444576.1", "UMLS:C3179672", "MESH:C556015", "UniProtKB:B4DZ31", "ENSEMBL:ENSP00000440850", "ENSEMBL:ENSP00000440850.1", "UniProtKB:Q9BZU5", "UniProtKB:Q9NWS1", "PR:Q9NWS1"]}
{"id": "NCBIGene:3164", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NR4A1", "equivalent_identifiers": ["NCBIGene:3164", "ENSEMBL:ENSG00000123358", "HGNC:7980", "OMIM:139139", "UMLS:C1367453", "UniProtKB:F5GXF0", "ENSEMBL:ENSP00000440864", "ENSEMBL:ENSP00000440864.1", "UniProtKB:P22736", "PR:P22736", "UMLS:C1700524", "MESH:C539821", "UniProtKB:Q6ZMM6"]}
{"id": "UniProtKB:O15091-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial ribonuclease P catalytic subunit isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15091-1", "PR:O15091-1", "ENSEMBL:ENSP00000440915", "ENSEMBL:ENSP00000440915.2"], "information_content": 100.0}
{"id": "NCBIGene:29763", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PACSIN3", "equivalent_identifiers": ["NCBIGene:29763", "ENSEMBL:ENSG00000165912", "HGNC:8572", "OMIM:606513", "UMLS:C1418243", "UniProtKB:Q9UKS6", "PR:Q9UKS6", "ENSEMBL:ENSP00000298838", "ENSEMBL:ENSP00000298838.6", "ENSEMBL:ENSP00000440945", "ENSEMBL:ENSP00000440945.1", "UMLS:C1432067", "MESH:C421762"], "information_content": 95.4}
{"id": "UniProtKB:Q13367-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-3 complex subunit beta-2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q13367-4", "PR:Q13367-4", "ENSEMBL:ENSP00000440984", "ENSEMBL:ENSP00000440984.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5ST30-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "valine--tRNA ligase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5ST30-1", "PR:Q5ST30-1", "ENSEMBL:ENSP00000316092", "ENSEMBL:ENSP00000316092.5", "ENSEMBL:ENSP00000400867", "ENSEMBL:ENSP00000400867.2", "ENSEMBL:ENSP00000441000", "ENSEMBL:ENSP00000441000.2", "ENSEMBL:ENSP00000502585", "ENSEMBL:ENSP00000502585.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6U8-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G-protein coupled receptor 161 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6U8-6", "PR:Q8N6U8-6", "ENSEMBL:ENSP00000441039", "ENSEMBL:ENSP00000441039.1"], "information_content": 100.0}
{"id": "UniProtKB:P53985-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "monocarboxylate transporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P53985-1", "PR:P53985-1", "ENSEMBL:ENSP00000358640", "ENSEMBL:ENSP00000358640.4", "ENSEMBL:ENSP00000397106", "ENSEMBL:ENSP00000397106.2", "ENSEMBL:ENSP00000399104", "ENSEMBL:ENSP00000399104.2", "ENSEMBL:ENSP00000416167", "ENSEMBL:ENSP00000416167.2", "ENSEMBL:ENSP00000441065", "ENSEMBL:ENSP00000441065.1", "ENSEMBL:ENSP00000485688", "ENSEMBL:ENSP00000485688.1", "ENSEMBL:ENSP00000486000", "ENSEMBL:ENSP00000486000.1", "ENSEMBL:ENSP00000505879", "ENSEMBL:ENSP00000505879.1"], "information_content": 100.0}
{"id": "NCBIGene:4717", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFC1", "equivalent_identifiers": ["NCBIGene:4717", "ENSEMBL:ENSG00000109390", "HGNC:7705", "OMIM:603844", "UMLS:C1417642", "UniProtKB:O43677", "PR:O43677", "ENSEMBL:ENSP00000377770", "ENSEMBL:ENSP00000377770.1", "ENSEMBL:ENSP00000377775", "ENSEMBL:ENSP00000377775.1", "ENSEMBL:ENSP00000421195", "ENSEMBL:ENSP00000421195.1", "ENSEMBL:ENSP00000425882", "ENSEMBL:ENSP00000425882.1", "ENSEMBL:ENSP00000439882", "ENSEMBL:ENSP00000439882.1", "ENSEMBL:ENSP00000440133", "ENSEMBL:ENSP00000440133.1", "ENSEMBL:ENSP00000441126", "ENSEMBL:ENSP00000441126.1"], "information_content": 92.8}
{"id": "UniProtKB:P53675-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "clathrin heavy chain 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P53675-1", "PR:P53675-1", "ENSEMBL:ENSP00000441158", "ENSEMBL:ENSP00000441158.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H310-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ammonium transporter Rh type B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H310-1", "PR:Q9H310-1", "ENSEMBL:ENSP00000441197", "ENSEMBL:ENSP00000441197.2"], "information_content": 100.0}
{"id": "NCBIGene:57602", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP36", "equivalent_identifiers": ["NCBIGene:57602", "ENSEMBL:ENSG00000055483", "HGNC:20062", "OMIM:612543", "UMLS:C1426650", "UniProtKB:A0A075B784", "ENSEMBL:ENSP00000468549", "ENSEMBL:ENSP00000468549.3", "UniProtKB:Q9P275", "PR:Q9P275", "ENSEMBL:ENSP00000310590", "ENSEMBL:ENSP00000310590.6", "ENSEMBL:ENSP00000401119", "ENSEMBL:ENSP00000401119.4", "ENSEMBL:ENSP00000441214", "ENSEMBL:ENSP00000441214.1", "ENSEMBL:ENSP00000465698", "ENSEMBL:ENSP00000465698.2", "ENSEMBL:ENSP00000467280", "ENSEMBL:ENSP00000467280.1", "UMLS:C1569904", "MESH:C501066"], "information_content": 90.9}
{"id": "UniProtKB:P16473-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thyrotropin receptor isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P16473-1", "PR:P16473-1", "ENSEMBL:ENSP00000298171", "ENSEMBL:ENSP00000298171.2", "ENSEMBL:ENSP00000441235", "ENSEMBL:ENSP00000441235.2"], "information_content": 100.0}
{"id": "NCBIGene:115072896", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLCO1B3-SLCO1B7", "equivalent_identifiers": ["NCBIGene:115072896", "ENSEMBL:ENSG00000257046", "HGNC:54403", "UMLS:C5241099", "UniProtKB:A0A0A6YYJ9", "ENSEMBL:ENSP00000441269"]}
{"id": "NCBIGene:83742", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MARVELD1", "equivalent_identifiers": ["NCBIGene:83742", "ENSEMBL:ENSG00000155254", "HGNC:28674", "OMIM:616970", "UMLS:C1428734", "UniProtKB:Q9BSK0", "PR:Q9BSK0", "ENSEMBL:ENSP00000441365", "ENSEMBL:ENSP00000441365.1", "UMLS:C2717417", "MESH:C542435"], "information_content": 100.0}
{"id": "NCBIGene:5564", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRKAB1", "equivalent_identifiers": ["NCBIGene:5564", "ENSEMBL:ENSG00000111725", "HGNC:9378", "OMIM:602740", "UMLS:C1418899", "UniProtKB:Q9Y478", "PR:Q9Y478", "ENSEMBL:ENSP00000229328", "ENSEMBL:ENSP00000229328.5", "ENSEMBL:ENSP00000441369", "ENSEMBL:ENSP00000441369.1", "UMLS:C2003411", "MESH:C526182"], "information_content": 89.4}
{"id": "NCBIGene:144348", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF664", "equivalent_identifiers": ["NCBIGene:144348", "ENSEMBL:ENSG00000179195", "HGNC:25406", "OMIM:617890", "UMLS:C1538229", "UniProtKB:Q8N3J9", "PR:Q8N3J9", "ENSEMBL:ENSP00000337320", "ENSEMBL:ENSP00000337320.4", "ENSEMBL:ENSP00000376205", "ENSEMBL:ENSP00000376205.3", "ENSEMBL:ENSP00000440645", "ENSEMBL:ENSP00000440645.1", "ENSEMBL:ENSP00000441405", "ENSEMBL:ENSP00000441405.1", "UMLS:C0389851", "MESH:C099572"], "information_content": 100.0}
{"id": "UniProtKB:P52742-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 135 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P52742-4", "PR:P52742-4", "ENSEMBL:ENSP00000441410", "ENSEMBL:ENSP00000441410.1"], "information_content": 100.0}
{"id": "NCBIGene:4837", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NNMT", "equivalent_identifiers": ["NCBIGene:4837", "ENSEMBL:ENSG00000166741", "HGNC:7861", "OMIM:600008", "UMLS:C1417748", "UniProtKB:B0YJ53", "UniProtKB:P40261", "PR:P40261", "ENSEMBL:ENSP00000299964", "ENSEMBL:ENSP00000299964.3", "ENSEMBL:ENSP00000441434", "ENSEMBL:ENSP00000441434.1", "ENSEMBL:ENSP00000518865", "ENSEMBL:ENSP00000518865.1", "UMLS:C1530470", "MESH:C494406"], "information_content": 92.8}
{"id": "NCBIGene:7316", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBC", "equivalent_identifiers": ["NCBIGene:7316", "ENSEMBL:ENSG00000150991", "HGNC:12468", "OMIM:191340", "UMLS:C1421267", "UniProtKB:P0CG48", "PR:P0CG48", "ENSEMBL:ENSP00000344818", "ENSEMBL:ENSP00000344818.5", "ENSEMBL:ENSP00000441543", "ENSEMBL:ENSP00000441543.1", "UMLS:C1523983"], "information_content": 100.0}
{"id": "UniProtKB:P51677-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-C chemokine receptor type 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51677-2", "PR:P51677-2", "ENSEMBL:ENSP00000441600", "ENSEMBL:ENSP00000441600.1"], "information_content": 100.0}
{"id": "NCBIGene:259295", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R20", "equivalent_identifiers": ["NCBIGene:259295", "ENSEMBL:ENSG00000255837", "HGNC:19109", "OMIM:613962", "UMLS:C1426015", "UniProtKB:P59543", "PR:P59543", "ENSEMBL:ENSP00000441624", "ENSEMBL:ENSP00000441624.1", "ENSEMBL:ENSP00000459353", "ENSEMBL:ENSP00000459353.1"], "information_content": 100.0}
{"id": "NCBIGene:78994", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRR14", "equivalent_identifiers": ["NCBIGene:78994", "ENSEMBL:ENSG00000156858", "HGNC:28458", "OMIM:617423", "UMLS:C1826718", "UniProtKB:Q9BWN1", "PR:Q9BWN1", "ENSEMBL:ENSP00000300835", "ENSEMBL:ENSP00000300835.4", "ENSEMBL:ENSP00000441641", "ENSEMBL:ENSP00000441641.2", "UMLS:C3884454", "MESH:C000594006"], "information_content": 92.8}
{"id": "UniProtKB:Q8IXQ8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PDZ domain-containing protein 9 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXQ8-3", "PR:Q8IXQ8-3", "ENSEMBL:ENSP00000441685", "ENSEMBL:ENSP00000441685.2"], "information_content": 100.0}
{"id": "MONDO:0012277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 4", "equivalent_identifiers": ["MONDO:0012277", "DOID:0080095", "OMIM:609452", "orphanet:98912", "UMLS:C1836155", "UMLS:C4721886", "MESH:C563718", "SNOMEDCT:770558006", "medgen:1648314"], "information_content": 100.0}
{"id": "NCBIGene:27098", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLUL1", "equivalent_identifiers": ["NCBIGene:27098", "ENSEMBL:ENSG00000079101", "HGNC:2096", "OMIM:616990", "UMLS:C1413515", "UniProtKB:B7Z5R4", "UMLS:C1309427", "MESH:C405933", "UniProtKB:F5GWQ8", "ENSEMBL:ENSP00000441726.1", "UniProtKB:Q15846", "PR:Q15846", "ENSEMBL:ENSP00000341128", "ENSEMBL:ENSP00000341128.6", "ENSEMBL:ENSP00000383449", "ENSEMBL:ENSP00000383449.2", "ENSEMBL:ENSP00000441726", "ENSEMBL:ENSP00000441726.2", "ENSEMBL:ENSP00000463269", "ENSEMBL:ENSP00000463269.2", "ENSEMBL:ENSP00000464642", "ENSEMBL:ENSP00000464642.1", "ENSEMBL:ENSP00000510271", "ENSEMBL:ENSP00000510271.1"], "information_content": 100.0}
{"id": "MONDO:0007639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "fundus albipunctatus", "equivalent_identifiers": ["MONDO:0007639", "DOID:11105", "OMIM:136880", "orphanet:227796", "UMLS:C0311338", "MESH:C562733", "SNOMEDCT:68222009", "SNOMEDCT:764939004", "medgen:86317", "icd11.foundation:1981512475", "HP:0030642"], "information_content": 95.4}
{"id": "UniProtKB:Q9NR20-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity tyrosine-phosphorylation-regulated kinase 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NR20-1", "PR:Q9NR20-1", "ENSEMBL:ENSP00000010132", "ENSEMBL:ENSP00000010132.5", "ENSEMBL:ENSP00000441755", "ENSEMBL:ENSP00000441755.1"], "information_content": 100.0}
{"id": "UniProtKB:P12272-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "parathyroid hormone-related protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P12272-1", "PR:P12272-1", "ENSEMBL:ENSP00000379213", "ENSEMBL:ENSP00000379213.1", "ENSEMBL:ENSP00000441571", "ENSEMBL:ENSP00000441571.1", "ENSEMBL:ENSP00000441765", "ENSEMBL:ENSP00000441765.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H5V9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "STING ER exit protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9H5V9-3", "PR:Q9H5V9-3", "ENSEMBL:ENSP00000441786", "ENSEMBL:ENSP00000441786.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXA9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Sal-like protein 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXA9-1", "PR:Q9BXA9-1", "ENSEMBL:ENSP00000441823", "ENSEMBL:ENSP00000441823.2", "ENSEMBL:ENSP00000478953", "ENSEMBL:ENSP00000478953.1"], "information_content": 100.0}
{"id": "UniProtKB:P00739-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "haptoglobin-related protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P00739-1", "PR:P00739-1", "ENSEMBL:ENSP00000441828", "ENSEMBL:ENSP00000441828.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y2H6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibronectin type-III domain-containing protein 3A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2H6-1", "PR:Q9Y2H6-1", "ENSEMBL:ENSP00000417257", "ENSEMBL:ENSP00000417257.1", "ENSEMBL:ENSP00000441831", "ENSEMBL:ENSP00000441831.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDJ6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DmX-like protein 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDJ6-3", "PR:Q8TDJ6-3", "ENSEMBL:ENSP00000441858", "ENSEMBL:ENSP00000441858.2"], "information_content": 100.0}
{"id": "UniProtKB:Q99623-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prohibitin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99623-1", "PR:Q99623-1", "ENSEMBL:ENSP00000441875", "ENSEMBL:ENSP00000441875.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N1W1-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 28 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1W1-6", "PR:Q8N1W1-6", "ENSEMBL:ENSP00000411459", "ENSEMBL:ENSP00000411459.1", "ENSEMBL:ENSP00000441913", "ENSEMBL:ENSP00000441913.1"], "information_content": 100.0}
{"id": "UniProtKB:P58005-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sestrin-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P58005-1", "PR:P58005-1", "ENSEMBL:ENSP00000441927", "ENSEMBL:ENSP00000441927.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKN1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mucin-12 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKN1-2", "PR:Q9UKN1-2", "ENSEMBL:ENSP00000441929", "ENSEMBL:ENSP00000441929.1"], "information_content": 100.0}
{"id": "NCBIGene:139212", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAAF6", "equivalent_identifiers": ["NCBIGene:139212", "ENSEMBL:ENSG00000080572", "HGNC:28570", "OMIM:300933", "UMLS:C1539188", "UniProtKB:Q9NQM4", "PR:Q9NQM4", "ENSEMBL:ENSP00000337757", "ENSEMBL:ENSP00000337757.4", "ENSEMBL:ENSP00000361531", "ENSEMBL:ENSP00000361531.3", "ENSEMBL:ENSP00000441930", "ENSEMBL:ENSP00000441930.1", "UMLS:C4742957", "MESH:C000628989"], "information_content": 100.0}
{"id": "NCBIGene:50840", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R14", "equivalent_identifiers": ["NCBIGene:50840", "ENSEMBL:ENSG00000212127", "HGNC:14920", "OMIM:604790", "UMLS:C1423054", "UniProtKB:Q9NYV8", "PR:Q9NYV8", "ENSEMBL:ENSP00000441949", "ENSEMBL:ENSP00000441949.1", "ENSEMBL:ENSP00000458544", "ENSEMBL:ENSP00000458544.1", "ENSEMBL:ENSP00000484251", "ENSEMBL:ENSP00000484251.1", "UMLS:C2974868", "MESH:C000730093"], "information_content": 100.0}
{"id": "UniProtKB:O43929-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "origin recognition complex subunit 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43929-1", "PR:O43929-1", "ENSEMBL:ENSP00000264169", "ENSEMBL:ENSP00000264169.2", "ENSEMBL:ENSP00000376597", "ENSEMBL:ENSP00000376597.5", "ENSEMBL:ENSP00000441953", "ENSEMBL:ENSP00000441953.1"], "information_content": 100.0}
{"id": "NCBIGene:4090", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMAD5", "equivalent_identifiers": ["NCBIGene:4090", "ENSEMBL:ENSG00000113658", "HGNC:6771", "OMIM:603110", "UMLS:C1416963", "UniProtKB:Q68DB7", "UniProtKB:Q99717", "PR:Q99717", "ENSEMBL:ENSP00000426696", "ENSEMBL:ENSP00000426696.2", "ENSEMBL:ENSP00000441954", "ENSEMBL:ENSP00000441954.2", "ENSEMBL:ENSP00000446474", "ENSEMBL:ENSP00000446474.2", "UMLS:C1566807", "MESH:C497797"], "information_content": 88.2}
{"id": "NCBIGene:10390", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEPT1", "equivalent_identifiers": ["NCBIGene:10390", "ENSEMBL:ENSG00000134255", "HGNC:24289", "OMIM:616751", "UMLS:C1538438", "UniProtKB:A0A8V8TQ23", "ENSEMBL:ENSP00000515163", "ENSEMBL:ENSP00000515163.1", "UniProtKB:A0A8V8TRF3", "ENSEMBL:ENSP00000515162", "ENSEMBL:ENSP00000515162.1", "UniProtKB:Q9Y6K0", "PR:Q9Y6K0", "ENSEMBL:ENSP00000349696", "ENSEMBL:ENSP00000349696.4", "ENSEMBL:ENSP00000441980", "ENSEMBL:ENSP00000441980.1"], "information_content": 89.4}
{"id": "UniProtKB:Q9BVG8-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIFC3 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVG8-6", "PR:Q9BVG8-6", "ENSEMBL:ENSP00000442008", "ENSEMBL:ENSP00000442008.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUR5-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein O-mannosyl-transferase TMTC1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUR5-5", "PR:Q8IUR5-5", "ENSEMBL:ENSP00000442046", "ENSEMBL:ENSP00000442046.1"], "information_content": 100.0}
{"id": "NCBIGene:7404", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UTY", "equivalent_identifiers": ["NCBIGene:7404", "ENSEMBL:ENSG00000183878", "HGNC:12638", "OMIM:400009", "UMLS:C1421415", "UniProtKB:A0A087X0Y2", "ENSEMBL:ENSP00000483735", "ENSEMBL:ENSP00000483735.1", "UMLS:C1436152", "MESH:C484453", "UniProtKB:A0A087X248", "ENSEMBL:ENSP00000484698", "ENSEMBL:ENSP00000484698.1", "UniProtKB:A0A087X2I9", "ENSEMBL:ENSP00000485013", "ENSEMBL:ENSP00000485013.1", "UniProtKB:A0A096LPD8", "ENSEMBL:ENSP00000439922", "ENSEMBL:ENSP00000439922.2", "UniProtKB:A0A8C8KHL4", "ENSEMBL:ENSP00000372352", "ENSEMBL:ENSP00000372352.5", "UniProtKB:E1NZ93", "UniProtKB:E1U198", "UniProtKB:E1U1M3", "UniProtKB:E1U1M9", "UniProtKB:F4MH27", "UniProtKB:F4MH29", "UniProtKB:F4MH30", "UniProtKB:F4MH31", "UniProtKB:F4MH32", "UniProtKB:F4MH35", "UniProtKB:F4MH36", "UniProtKB:F4MH40", "UniProtKB:F4MH46", "UniProtKB:F4MH47", "UniProtKB:F4MH50", "UniProtKB:F4MH51", "UniProtKB:F4MH58", "UniProtKB:F4MH60", "UniProtKB:F4MH62", "UniProtKB:F4MH91", "UniProtKB:F4MH92", "UniProtKB:F5GWV3", "ENSEMBL:ENSP00000441943", "ENSEMBL:ENSP00000441943.2", "UniProtKB:F5H3N7", "ENSEMBL:ENSP00000445274", "ENSEMBL:ENSP00000445274.2", "UniProtKB:F5H8B4", "ENSEMBL:ENSP00000442047", "ENSEMBL:ENSP00000442047.2", "UniProtKB:O14607", "PR:O14607"]}
{"id": "UniProtKB:Q99447-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ethanolamine-phosphate cytidylyltransferase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q99447-3", "PR:Q99447-3", "ENSEMBL:ENSP00000442050", "ENSEMBL:ENSP00000442050.2"], "information_content": 100.0}
{"id": "MONDO:0013638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Warburg micro syndrome 3", "equivalent_identifiers": ["MONDO:0013638", "DOID:0110718", "OMIM:614222", "UMLS:C3280203", "medgen:481833"], "information_content": 100.0}
{"id": "NCBIGene:9904", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBM19", "equivalent_identifiers": ["NCBIGene:9904", "ENSEMBL:ENSG00000122965", "HGNC:29098", "OMIM:616444", "UMLS:C1428788", "UniProtKB:Q9Y4C8", "PR:Q9Y4C8", "ENSEMBL:ENSP00000261741", "ENSEMBL:ENSP00000261741.5", "ENSEMBL:ENSP00000376344", "ENSEMBL:ENSP00000376344.3", "ENSEMBL:ENSP00000442053", "ENSEMBL:ENSP00000442053.2"], "information_content": 89.4}
{"id": "MONDO:0001914", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "scleromalacia perforans", "equivalent_identifiers": ["MONDO:0001914", "DOID:14230", "UMLS:C0155354", "MEDDRA:10039715", "SNOMEDCT:26664005", "medgen:509929", "icd11.foundation:740830358", "ICD10:H15.05", "ICD9:379.04"], "information_content": 100.0}
{"id": "MONDO:0004170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nodular episcleritis", "equivalent_identifiers": ["MONDO:0004170", "DOID:728", "UMLS:C0155352", "MEDDRA:10029476", "SNOMEDCT:70558001", "medgen:509927", "icd11.foundation:134477595", "ICD10:H15.12", "ICD9:379.02"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULX9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor MafF isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULX9-1", "PR:Q9ULX9-1", "ENSEMBL:ENSP00000345393", "ENSEMBL:ENSP00000345393.2", "ENSEMBL:ENSP00000384094", "ENSEMBL:ENSP00000384094.1", "ENSEMBL:ENSP00000388882", "ENSEMBL:ENSP00000388882.2", "ENSEMBL:ENSP00000442060", "ENSEMBL:ENSP00000442060.1"], "information_content": 100.0}
{"id": "NCBIGene:83461", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDCA3", "equivalent_identifiers": ["NCBIGene:83461", "ENSEMBL:ENSG00000111665", "HGNC:14624", "OMIM:607749", "UMLS:C1422796", "UniProtKB:F5GX58", "ENSEMBL:ENSP00000441120", "ENSEMBL:ENSP00000441120.1", "UMLS:C1258115", "MESH:C473796", "UniProtKB:F8WDL1", "ENSEMBL:ENSP00000415142", "ENSEMBL:ENSP00000415142.2", "UniProtKB:J3KMY0", "ENSEMBL:ENSP00000229265", "ENSEMBL:ENSP00000229265.5", "UniProtKB:Q99618", "PR:Q99618", "ENSEMBL:ENSP00000442068", "ENSEMBL:ENSP00000442068.1", "ENSEMBL:ENSP00000446339", "ENSEMBL:ENSP00000446339.1"], "information_content": 100.0}
{"id": "NCBIGene:154150", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HDGFL1", "equivalent_identifiers": ["NCBIGene:154150", "ENSEMBL:ENSG00000112273", "HGNC:21095", "UMLS:C1539650", "UniProtKB:A0A140VJK8", "UniProtKB:Q5TGJ6", "PR:Q5TGJ6", "ENSEMBL:ENSP00000442129", "ENSEMBL:ENSP00000442129.1"], "information_content": 100.0}
{"id": "NCBIGene:151176", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERFE", "equivalent_identifiers": ["NCBIGene:151176", "ENSEMBL:ENSG00000178752", "HGNC:26727", "OMIM:615099", "UMLS:C2239422", "UniProtKB:Q4G0M1", "PR:Q4G0M1", "ENSEMBL:ENSP00000442304", "ENSEMBL:ENSP00000442304.1"], "information_content": 100.0}
{"id": "UniProtKB:O15226-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NF-kappa-B-repressing factor isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15226-2", "PR:O15226-2", "ENSEMBL:ENSP00000442308", "ENSEMBL:ENSP00000442308.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86VP6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cullin-associated NEDD8-dissociated protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VP6-1", "PR:Q86VP6-1", "ENSEMBL:ENSP00000442318", "ENSEMBL:ENSP00000442318.1"], "information_content": 100.0}
{"id": "NCBIGene:142680", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC34A3", "equivalent_identifiers": ["NCBIGene:142680", "ENSEMBL:ENSG00000198569", "HGNC:20305", "OMIM:609826", "UMLS:C1426845", "UniProtKB:Q8N130", "PR:Q8N130", "ENSEMBL:ENSP00000355353", "ENSEMBL:ENSP00000355353.2", "ENSEMBL:ENSP00000442397", "ENSEMBL:ENSP00000442397.1", "ENSEMBL:ENSP00000501114", "ENSEMBL:ENSP00000501114.1", "UMLS:C1529420", "MESH:C493562"], "information_content": 90.9}
{"id": "NCBIGene:50616", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL22", "equivalent_identifiers": ["NCBIGene:50616", "ENSEMBL:ENSG00000127318", "HGNC:14900", "OMIM:605330", "UMLS:C1423038", "UniProtKB:A0A7R8C389", "UniProtKB:Q9GZX6", "PR:Q9GZX6", "ENSEMBL:ENSP00000329384", "ENSEMBL:ENSP00000329384.4", "ENSEMBL:ENSP00000442424", "ENSEMBL:ENSP00000442424.1", "UMLS:C1700909", "MESH:C000726943"], "information_content": 92.8}
{"id": "UniProtKB:Q9H2W2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein MIXL1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2W2-2", "PR:Q9H2W2-2", "ENSEMBL:ENSP00000442439", "ENSEMBL:ENSP00000442439.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13882-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein-tyrosine kinase 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13882-1", "PR:Q13882-1", "ENSEMBL:ENSP00000442460", "ENSEMBL:ENSP00000442460.2"], "information_content": 100.0}
{"id": "NCBIGene:57552", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCEH1", "equivalent_identifiers": ["NCBIGene:57552", "ENSEMBL:ENSG00000144959", "HGNC:29260", "OMIM:613234", "UMLS:C1538892", "UniProtKB:A0A0A0MTJ9", "ENSEMBL:ENSP00000442464", "ENSEMBL:ENSP00000442464.1", "UMLS:C1869660", "MESH:C515677", "UniProtKB:Q6PIU2", "PR:Q6PIU2"]}
{"id": "UniProtKB:Q9UBI4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stomatin-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBI4-1", "PR:Q9UBI4-1", "ENSEMBL:ENSP00000442478", "ENSEMBL:ENSP00000442478.2"], "information_content": 100.0}
{"id": "UniProtKB:Q3SXZ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable tubulin polyglutamylase TTLL9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3SXZ7-1", "PR:Q3SXZ7-1", "ENSEMBL:ENSP00000365105", "ENSEMBL:ENSP00000365105.4", "ENSEMBL:ENSP00000442515", "ENSEMBL:ENSP00000442515.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXY8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein BEX2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXY8-2", "PR:Q9BXY8-2", "ENSEMBL:ENSP00000442521", "ENSEMBL:ENSP00000442521.1"], "information_content": 100.0}
{"id": "NCBIGene:11232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLG2", "equivalent_identifiers": ["NCBIGene:11232", "ENSEMBL:ENSG00000256525", "HGNC:9180", "OMIM:604983", "UMLS:C1418732", "UniProtKB:E5KS15", "UMLS:C2742682", "MESH:C544932", "UniProtKB:Q9UHN1", "PR:Q9UHN1", "ENSEMBL:ENSP00000442563", "ENSEMBL:ENSP00000442563.2"], "information_content": 100.0}
{"id": "NCBIGene:5544", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRB3", "equivalent_identifiers": ["NCBIGene:5544", "ENSEMBL:ENSG00000197870", "HGNC:9339", "OMIM:168840", "UMLS:C1418868", "UniProtKB:A0A0G2JNB4", "ENSEMBL:ENSP00000481020", "ENSEMBL:ENSP00000481020.1", "UMLS:C1999861", "MESH:C524762", "UniProtKB:Q04118", "PR:Q04118", "ENSEMBL:ENSP00000442626", "ENSEMBL:ENSP00000442626.2", "ENSEMBL:ENSP00000488472", "ENSEMBL:ENSP00000488472.1"], "information_content": 95.4}
{"id": "UniProtKB:P36896-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "activin receptor type-1B isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P36896-4", "PR:P36896-4", "ENSEMBL:ENSP00000442656", "ENSEMBL:ENSP00000442656.1"], "information_content": 100.0}
{"id": "NCBIGene:5724", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTAFR", "equivalent_identifiers": ["NCBIGene:5724", "ENSEMBL:ENSG00000169403", "HGNC:9582", "OMIM:173393", "UMLS:C1419053", "UniProtKB:A8K7N8", "UniProtKB:P25105", "PR:P25105", "ENSEMBL:ENSP00000301974", "ENSEMBL:ENSP00000301974.3", "ENSEMBL:ENSP00000362965", "ENSEMBL:ENSP00000362965.3", "ENSEMBL:ENSP00000442658", "ENSEMBL:ENSP00000442658.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6N075-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "molybdate-anion transporter isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6N075-2", "PR:Q6N075-2", "ENSEMBL:ENSP00000442688", "ENSEMBL:ENSP00000442688.1"], "information_content": 100.0}
{"id": "NCBIGene:27336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTATSF1", "equivalent_identifiers": ["NCBIGene:27336", "ENSEMBL:ENSG00000102241", "HGNC:5276", "OMIM:300346", "UMLS:C1415794", "UniProtKB:O43719", "PR:O43719", "ENSEMBL:ENSP00000218364", "ENSEMBL:ENSP00000218364.4", "ENSEMBL:ENSP00000442699", "ENSEMBL:ENSP00000442699.1", "UMLS:C1430449", "MESH:C101819"], "information_content": 92.8}
{"id": "UniProtKB:Q9ULL4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "plexin-B3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULL4-2", "PR:Q9ULL4-2", "ENSEMBL:ENSP00000442736", "ENSEMBL:ENSP00000442736.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0Q3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FXYD domain-containing ion transport regulator 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0Q3-1", "PR:Q9H0Q3-1", "ENSEMBL:ENSP00000260282", "ENSEMBL:ENSP00000260282.4", "ENSEMBL:ENSP00000431427", "ENSEMBL:ENSP00000431427.1", "ENSEMBL:ENSP00000431446", "ENSEMBL:ENSP00000431446.1", "ENSEMBL:ENSP00000433312", "ENSEMBL:ENSP00000433312.1", "ENSEMBL:ENSP00000442756", "ENSEMBL:ENSP00000442756.1", "ENSEMBL:ENSP00000463158", "ENSEMBL:ENSP00000463158.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAP4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LIM domain only protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAP4-2", "PR:Q8TAP4-2", "ENSEMBL:ENSP00000442786", "ENSEMBL:ENSP00000442786.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6N021-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methylcytosine dioxygenase TET2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6N021-1", "PR:Q6N021-1", "ENSEMBL:ENSP00000369351", "ENSEMBL:ENSP00000369351.4", "ENSEMBL:ENSP00000442788", "ENSEMBL:ENSP00000442788.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3B7T3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein BEAN1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3B7T3-1", "PR:Q3B7T3-1", "ENSEMBL:ENSP00000442793", "ENSEMBL:ENSP00000442793.2"], "information_content": 100.0}
{"id": "UniProtKB:Q14896-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin-binding protein C, cardiac-type isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14896-1", "PR:Q14896-1", "ENSEMBL:ENSP00000442795", "ENSEMBL:ENSP00000442795.1"], "information_content": 100.0}
{"id": "NCBIGene:6003", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RGS13", "equivalent_identifiers": ["NCBIGene:6003", "ENSEMBL:ENSG00000127074", "HGNC:9995", "OMIM:607190", "UMLS:C1419371", "UniProtKB:O14921", "PR:O14921", "ENSEMBL:ENSP00000375853", "ENSEMBL:ENSP00000375853.2", "ENSEMBL:ENSP00000442837", "ENSEMBL:ENSP00000442837.1", "UMLS:C1136692", "MESH:C456322"], "information_content": 95.4}
{"id": "UniProtKB:P04179-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "superoxide dismutase [Mn], mitochondrial isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P04179-4", "PR:P04179-4", "ENSEMBL:ENSP00000442920", "ENSEMBL:ENSP00000442920.1"], "information_content": 100.0}
{"id": "UniProtKB:O95996-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenomatous polyposis coli protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95996-1", "PR:O95996-1", "ENSEMBL:ENSP00000233607", "ENSEMBL:ENSP00000233607.2", "ENSEMBL:ENSP00000442954", "ENSEMBL:ENSP00000442954.1", "ENSEMBL:ENSP00000467073", "ENSEMBL:ENSP00000467073.2"], "information_content": 100.0}
{"id": "UniProtKB:O43293-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "death-associated protein kinase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43293-1", "PR:O43293-1", "ENSEMBL:ENSP00000301264", "ENSEMBL:ENSP00000301264.3", "ENSEMBL:ENSP00000442973", "ENSEMBL:ENSP00000442973.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13304-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uracil nucleotide/cysteinyl leukotriene receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13304-1", "PR:Q13304-1", "ENSEMBL:ENSP00000272644", "ENSEMBL:ENSP00000272644.3", "ENSEMBL:ENSP00000376741", "ENSEMBL:ENSP00000376741.3", "ENSEMBL:ENSP00000442982", "ENSEMBL:ENSP00000442982.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86WH2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras association domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86WH2-1", "PR:Q86WH2-1", "ENSEMBL:ENSP00000443021", "ENSEMBL:ENSP00000443021.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N3Z6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger CCHC domain-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3Z6-1", "PR:Q8N3Z6-1", "ENSEMBL:ENSP00000337839", "ENSEMBL:ENSP00000337839.5", "ENSEMBL:ENSP00000443113", "ENSEMBL:ENSP00000443113.2"], "information_content": 100.0}
{"id": "UniProtKB:F5H5T6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F5H5T6_HUMAN Succinate dehydrogenase assembly factor 2, mitochondrial (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:F5H5T6", "ENSEMBL:ENSP00000443130", "ENSEMBL:ENSP00000443130.1"]}
{"id": "NCBIGene:399888", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM180B", "equivalent_identifiers": ["NCBIGene:399888", "ENSEMBL:ENSG00000196666", "HGNC:34451", "UMLS:C2681512", "UniProtKB:Q6P0A1", "PR:Q6P0A1", "ENSEMBL:ENSP00000443133", "ENSEMBL:ENSP00000443133.2", "ENSEMBL:ENSP00000496127", "ENSEMBL:ENSP00000496127.2"], "information_content": 100.0}
{"id": "NCBIGene:246744", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STH", "equivalent_identifiers": ["NCBIGene:246744", "ENSEMBL:ENSG00000256762", "HGNC:18839", "OMIM:607067", "UMLS:C1846860", "UniProtKB:Q8IWL8", "PR:Q8IWL8", "ENSEMBL:ENSP00000443168", "ENSEMBL:ENSP00000443168.1", "UMLS:C1137121", "MESH:C458340"], "information_content": 100.0}
{"id": "UniProtKB:Q96DX4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RING finger and SPRY domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96DX4-1", "PR:Q96DX4-1", "ENSEMBL:ENSP00000377942", "ENSEMBL:ENSP00000377942.4", "ENSEMBL:ENSP00000443176", "ENSEMBL:ENSP00000443176.1"], "information_content": 100.0}
{"id": "NCBIGene:9", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAT1", "equivalent_identifiers": ["NCBIGene:9", "ENSEMBL:ENSG00000171428", "HGNC:7645", "OMIM:108345", "UMLS:C1417602", "UniProtKB:F5H5R8", "ENSEMBL:ENSP00000443194", "ENSEMBL:ENSP00000443194.1", "UniProtKB:P18440", "PR:P18440", "ENSEMBL:ENSP00000307218", "ENSEMBL:ENSP00000307218.4", "ENSEMBL:ENSP00000428270", "ENSEMBL:ENSP00000428270.1", "ENSEMBL:ENSP00000429341", "ENSEMBL:ENSP00000429341.1", "ENSEMBL:ENSP00000429407", "ENSEMBL:ENSP00000429407.1", "UMLS:C0673024", "UniProtKB:Q400J6"]}
{"id": "MONDO:0011160", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 15", "equivalent_identifiers": ["MONDO:0011160", "DOID:0110470", "OMIM:601869", "UMLS:C1866094", "MESH:C566611", "medgen:355626"], "information_content": 100.0}
{"id": "NCBIGene:746", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM258", "equivalent_identifiers": ["NCBIGene:746", "ENSEMBL:ENSG00000134825", "HGNC:1164", "OMIM:617615", "UMLS:C3540116", "UniProtKB:P61165", "PR:P61165", "ENSEMBL:ENSP00000257262", "ENSEMBL:ENSP00000257262.8", "ENSEMBL:ENSP00000443216", "ENSEMBL:ENSP00000443216.1"], "information_content": 100.0}
{"id": "UniProtKB:F5H5P2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F5H5P2_HUMAN 2-oxoisovalerate dehydrogenase subunit alpha (trembl)", "equivalent_identifiers": ["UniProtKB:F5H5P2", "ENSEMBL:ENSP00000443246", "ENSEMBL:ENSP00000443246.1"]}
{"id": "NCBIGene:9170", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LPAR2", "equivalent_identifiers": ["NCBIGene:9170", "ENSEMBL:ENSG00000064547", "HGNC:3168", "OMIM:605110", "UMLS:C1414256", "UniProtKB:Q9HBW0", "PR:Q9HBW0", "ENSEMBL:ENSP00000384665", "ENSEMBL:ENSP00000384665.3", "ENSEMBL:ENSP00000443256", "ENSEMBL:ENSP00000443256.2", "ENSEMBL:ENSP00000465280", "ENSEMBL:ENSP00000465280.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96K12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fatty acyl-CoA reductase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96K12-1", "PR:Q96K12-1", "ENSEMBL:ENSP00000182377", "ENSEMBL:ENSP00000182377.4", "ENSEMBL:ENSP00000443291", "ENSEMBL:ENSP00000443291.2"], "information_content": 100.0}
{"id": "NCBIGene:84915", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM222A", "equivalent_identifiers": ["NCBIGene:84915", "ENSEMBL:ENSG00000139438", "HGNC:25915", "UMLS:C3470309", "UniProtKB:Q5U5X8", "PR:Q5U5X8", "ENSEMBL:ENSP00000351783", "ENSEMBL:ENSP00000351783.3", "ENSEMBL:ENSP00000443292", "ENSEMBL:ENSP00000443292.1", "UMLS:C5391908", "MESH:C000708149"], "information_content": 100.0}
{"id": "NCBIGene:169966", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TENT5D", "equivalent_identifiers": ["NCBIGene:169966", "ENSEMBL:ENSG00000174016", "HGNC:28399", "OMIM:300976", "UMLS:C1539446", "UniProtKB:Q8NEK8", "PR:Q8NEK8", "ENSEMBL:ENSP00000308575", "ENSEMBL:ENSP00000308575.5", "ENSEMBL:ENSP00000443410", "ENSEMBL:ENSP00000443410.1", "UMLS:C2742290", "MESH:C545355"], "information_content": 100.0}
{"id": "NCBIGene:339145", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIBAR2", "equivalent_identifiers": ["NCBIGene:339145", "ENSEMBL:ENSG00000153789", "HGNC:24781", "OMIM:617274", "UMLS:C1825212", "UniProtKB:A0A1X7SC74", "ENSEMBL:ENSP00000443411", "ENSEMBL:ENSP00000443411.1", "UMLS:C3492763", "MESH:C572790", "UniProtKB:Q6ZTR7", "PR:Q6ZTR7"]}
{"id": "UniProtKB:Q6ZQW0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "indoleamine 2,3-dioxygenase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZQW0-1", "PR:Q6ZQW0-1", "ENSEMBL:ENSP00000443432", "ENSEMBL:ENSP00000443432.2"], "information_content": 100.0}
{"id": "UniProtKB:P54687-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "branched-chain-amino-acid aminotransferase, cytosolic isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P54687-5", "PR:P54687-5", "ENSEMBL:ENSP00000443459", "ENSEMBL:ENSP00000443459.1"], "information_content": 100.0}
{"id": "NCBIGene:84790", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBA1C", "equivalent_identifiers": ["NCBIGene:84790", "ENSEMBL:ENSG00000167553", "HGNC:20768", "OMIM:621161", "UMLS:C1823551", "UniProtKB:B7Z1K5", "UniProtKB:F5H5D3", "ENSEMBL:ENSP00000443475", "ENSEMBL:ENSP00000443475.1", "UniProtKB:Q9BQE3", "PR:Q9BQE3", "ENSEMBL:ENSP00000301072", "ENSEMBL:ENSP00000301072.7"]}
{"id": "UniProtKB:Q01970-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01970-1", "PR:Q01970-1", "ENSEMBL:ENSP00000279230", "ENSEMBL:ENSP00000279230.6", "ENSEMBL:ENSP00000443631", "ENSEMBL:ENSP00000443631.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IV04-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "carabin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IV04-1", "PR:Q8IV04-1", "ENSEMBL:ENSP00000443654", "ENSEMBL:ENSP00000443654.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYJ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome c oxidase assembly factor 4 homolog, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYJ1-1", "PR:Q9NYJ1-1", "ENSEMBL:ENSP00000347919", "ENSEMBL:ENSP00000347919.4", "ENSEMBL:ENSP00000437772", "ENSEMBL:ENSP00000437772.1", "ENSEMBL:ENSP00000443795", "ENSEMBL:ENSP00000443795.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase ZNRF3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULT6-1", "PR:Q9ULT6-1", "ENSEMBL:ENSP00000443824", "ENSEMBL:ENSP00000443824.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDD2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor Sp7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDD2-1", "PR:Q8TDD2-1", "ENSEMBL:ENSP00000302812", "ENSEMBL:ENSP00000302812.3", "ENSEMBL:ENSP00000443827", "ENSEMBL:ENSP00000443827.2", "ENSEMBL:ENSP00000517441", "ENSEMBL:ENSP00000517441.1", "ENSEMBL:ENSP00000517442", "ENSEMBL:ENSP00000517442.1"], "information_content": 100.0}
{"id": "NCBIGene:57128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LYRM4", "equivalent_identifiers": ["NCBIGene:57128", "ENSEMBL:ENSG00000214113", "HGNC:21365", "OMIM:613311", "UMLS:C1825924", "UniProtKB:C9JRX8", "ENSEMBL:ENSP00000420026", "ENSEMBL:ENSP00000420026.1", "UMLS:C2743697", "MESH:C544445", "UniProtKB:C9JY28", "ENSEMBL:ENSP00000419928", "ENSEMBL:ENSP00000419928.1", "UniProtKB:F5H189", "ENSEMBL:ENSP00000443900", "ENSEMBL:ENSP00000443900.3", "UniProtKB:Q9HD34", "PR:Q9HD34", "ENSEMBL:ENSP00000418787", "ENSEMBL:ENSP00000418787.1"]}
{"id": "UniProtKB:P55263-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenosine kinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P55263-1", "PR:P55263-1", "ENSEMBL:ENSP00000443965", "ENSEMBL:ENSP00000443965.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z5Q1-9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoplasmic polyadenylation element-binding protein 2 isoform h8 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5Q1-9", "PR:Q7Z5Q1-9", "ENSEMBL:ENSP00000443985", "ENSEMBL:ENSP00000443985.1"], "information_content": 100.0}
{"id": "NCBIGene:64426", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUDS3", "equivalent_identifiers": ["NCBIGene:64426", "ENSEMBL:ENSG00000111707", "HGNC:29545", "OMIM:608250", "UMLS:C1842351", "UniProtKB:Q9H7L9", "PR:Q9H7L9", "ENSEMBL:ENSP00000443988", "ENSEMBL:ENSP00000443988.1", "UMLS:C3529964", "MESH:C576731"], "information_content": 92.8}
{"id": "UniProtKB:P49790-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear pore complex protein Nup153 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P49790-3", "PR:P49790-3", "ENSEMBL:ENSP00000444029", "ENSEMBL:ENSP00000444029.1"], "information_content": 100.0}
{"id": "NCBIGene:390079", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52E8", "equivalent_identifiers": ["NCBIGene:390079", "ENSEMBL:ENSG00000183269", "HGNC:15217", "UMLS:C1423308", "UniProtKB:A0A126GVH0", "UniProtKB:Q6IFG1", "PR:Q6IFG1", "ENSEMBL:ENSP00000444054", "ENSEMBL:ENSP00000444054.2"], "information_content": 100.0}
{"id": "UniProtKB:Q92617-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear pore complex-interacting protein family member B3 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q92617-4", "PR:Q92617-4", "ENSEMBL:ENSP00000444096", "ENSEMBL:ENSP00000444096.1"], "information_content": 100.0}
{"id": "NCBIGene:125962", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR7G1", "equivalent_identifiers": ["NCBIGene:125962", "ENSEMBL:ENSG00000161807", "HGNC:8465", "UMLS:C1418163", "UniProtKB:A0A126GVS6", "UniProtKB:Q8NGA0", "PR:Q8NGA0", "ENSEMBL:ENSP00000444134", "ENSEMBL:ENSP00000444134.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H9Y6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed RNA polymerase I subunit RPA2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9Y6-3", "PR:Q9H9Y6-3", "ENSEMBL:ENSP00000444136", "ENSEMBL:ENSP00000444136.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYB5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier organic anion transporter family member 1C1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYB5-3", "PR:Q9NYB5-3", "ENSEMBL:ENSP00000444149", "ENSEMBL:ENSP00000444149.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6NXE6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "armadillo repeat-containing protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NXE6-1", "PR:Q6NXE6-1", "ENSEMBL:ENSP00000376148", "ENSEMBL:ENSP00000376148.3", "ENSEMBL:ENSP00000444156", "ENSEMBL:ENSP00000444156.1"], "information_content": 100.0}
{"id": "NCBIGene:10370", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CITED2", "equivalent_identifiers": ["NCBIGene:10370", "ENSEMBL:ENSG00000164442", "HGNC:1987", "OMIM:602937", "UMLS:C1413430", "UniProtKB:A0A0A0MTM3", "ENSEMBL:ENSP00000444198", "ENSEMBL:ENSP00000444198.2", "UniProtKB:D9ZGF1", "UniProtKB:Q99967", "PR:Q99967", "UMLS:C1436100", "MESH:C486381"]}
{"id": "UniProtKB:O43581-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptotagmin-7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O43581-2", "PR:O43581-2", "ENSEMBL:ENSP00000444201", "ENSEMBL:ENSP00000444201.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5P3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "retinoic acid-induced protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5P3-1", "PR:Q9Y5P3-1", "ENSEMBL:ENSP00000333456", "ENSEMBL:ENSP00000333456.1", "ENSEMBL:ENSP00000353106", "ENSEMBL:ENSP00000353106.1", "ENSEMBL:ENSP00000401323", "ENSEMBL:ENSP00000401323.1", "ENSEMBL:ENSP00000444210", "ENSEMBL:ENSP00000444210.1"], "information_content": 100.0}
{"id": "NCBIGene:5157", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDGFRL", "equivalent_identifiers": ["NCBIGene:5157", "ENSEMBL:ENSG00000104213", "HGNC:8805", "OMIM:604584", "UMLS:C1335203", "UniProtKB:Q15198", "PR:Q15198", "ENSEMBL:ENSP00000251630", "ENSEMBL:ENSP00000251630.4", "ENSEMBL:ENSP00000444211", "ENSEMBL:ENSP00000444211.1", "UMLS:C1335431", "MESH:C550706"], "information_content": 95.4}
{"id": "NCBIGene:126282", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFAIP8L1", "equivalent_identifiers": ["NCBIGene:126282", "ENSEMBL:ENSG00000185361", "HGNC:28279", "OMIM:615869", "UMLS:C1823457", "UniProtKB:Q8WVP5", "PR:Q8WVP5", "ENSEMBL:ENSP00000331827", "ENSEMBL:ENSP00000331827.3", "ENSEMBL:ENSP00000444215", "ENSEMBL:ENSP00000444215.1", "UMLS:C3178041", "MESH:C560123"], "information_content": 95.4}
{"id": "NCBIGene:715", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1R", "equivalent_identifiers": ["NCBIGene:715", "ENSEMBL:ENSG00000159403", "HGNC:1246", "OMIM:613785", "UMLS:C1412936", "UniProtKB:A0A3B3ISR2", "ENSEMBL:ENSP00000497341", "ENSEMBL:ENSP00000497341.1", "ENSEMBL:ENSP00000500036", "ENSEMBL:ENSP00000500036.1", "UniProtKB:B4DPQ0", "ENSEMBL:ENSP00000444271", "ENSEMBL:ENSP00000444271.3", "ENSEMBL:ENSP00000499988", "ENSEMBL:ENSP00000499988.1", "UniProtKB:P00736", "PR:P00736", "UMLS:C5848975"]}
{"id": "UniProtKB:Q96FW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin thioesterase OTUB1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96FW1-1", "PR:Q96FW1-1", "ENSEMBL:ENSP00000402551", "ENSEMBL:ENSP00000402551.2", "ENSEMBL:ENSP00000444357", "ENSEMBL:ENSP00000444357.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15758-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neutral amino acid transporter B(0) isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15758-1", "PR:Q15758-1", "ENSEMBL:ENSP00000444408", "ENSEMBL:ENSP00000444408.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5SYB0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FERM and PDZ domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5SYB0-1", "PR:Q5SYB0-1", "ENSEMBL:ENSP00000366995", "ENSEMBL:ENSP00000366995.3", "ENSEMBL:ENSP00000444411", "ENSEMBL:ENSP00000444411.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6QNK2-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G-protein coupled receptor D1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q6QNK2-4", "PR:Q6QNK2-4", "ENSEMBL:ENSP00000444425", "ENSEMBL:ENSP00000444425.1"], "information_content": 100.0}
{"id": "NCBIGene:9997", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCO2", "equivalent_identifiers": ["NCBIGene:9997", "ENSEMBL:ENSG00000284194", "HGNC:10604", "OMIM:604272", "UMLS:C1419873", "UniProtKB:O43819", "PR:O43819", "ENSEMBL:ENSP00000252785", "ENSEMBL:ENSP00000252785.3", "ENSEMBL:ENSP00000379046", "ENSEMBL:ENSP00000379046.4", "ENSEMBL:ENSP00000444242", "ENSEMBL:ENSP00000444242.1", "ENSEMBL:ENSP00000444433", "ENSEMBL:ENSP00000444433.1", "UMLS:C1449303", "MESH:C400285"], "information_content": 95.4}
{"id": "NCBIGene:645832", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEBOX", "equivalent_identifiers": ["NCBIGene:645832", "ENSEMBL:ENSG00000274529", "HGNC:32942", "OMIM:610975", "UMLS:C1970412", "UniProtKB:Q9HB31", "PR:Q9HB31", "ENSEMBL:ENSP00000444503", "ENSEMBL:ENSP00000444503.3", "UMLS:C0960417", "MESH:C412685"], "information_content": 100.0}
{"id": "NCBIGene:3892", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT86", "equivalent_identifiers": ["NCBIGene:3892", "ENSEMBL:ENSG00000170442", "HGNC:6463", "OMIM:601928", "UMLS:C1825773", "UniProtKB:A8K872", "UniProtKB:O43790", "PR:O43790", "ENSEMBL:ENSP00000293525", "ENSEMBL:ENSP00000293525.5", "ENSEMBL:ENSP00000444533", "ENSEMBL:ENSP00000444533.1", "UMLS:C1689301", "MESH:C507605"], "information_content": 95.4}
{"id": "NCBIGene:51522", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM14C", "equivalent_identifiers": ["NCBIGene:51522", "ENSEMBL:ENSG00000111843", "HGNC:20952", "OMIM:615318", "UMLS:C1539991", "UniProtKB:Q9P0S9", "PR:Q9P0S9", "ENSEMBL:ENSP00000229563", "ENSEMBL:ENSP00000229563.5", "ENSEMBL:ENSP00000444561", "ENSEMBL:ENSP00000444561.1", "ENSEMBL:ENSP00000495127", "ENSEMBL:ENSP00000495127.1", "ENSEMBL:ENSP00000495742", "ENSEMBL:ENSP00000495742.1"], "information_content": 95.4}
{"id": "NCBIGene:125336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LOXHD1", "equivalent_identifiers": ["NCBIGene:125336", "ENSEMBL:ENSG00000167210", "HGNC:26521", "OMIM:613072", "UMLS:C1537583", "UniProtKB:A0A2R8Y7K4", "ENSEMBL:ENSP00000496347", "ENSEMBL:ENSP00000496347.1", "UniProtKB:B7Z7T7", "UMLS:C2745577", "MESH:C543906", "UniProtKB:F5GZB4", "ENSEMBL:ENSP00000444586", "ENSEMBL:ENSP00000444586.1", "UniProtKB:J3QKX9", "ENSEMBL:ENSP00000463285", "ENSEMBL:ENSP00000463285.1", "UniProtKB:Q8IVV2", "PR:Q8IVV2"]}
{"id": "UniProtKB:O75592-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase MYCBP2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75592-1", "PR:O75592-1", "ENSEMBL:ENSP00000444596", "ENSEMBL:ENSP00000444596.2"], "information_content": 100.0}
{"id": "NCBIGene:89944", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLB1L2", "equivalent_identifiers": ["NCBIGene:89944", "ENSEMBL:ENSG00000149328", "HGNC:25129", "UMLS:C2239495", "UniProtKB:Q8IW92", "PR:Q8IW92", "ENSEMBL:ENSP00000444628", "ENSEMBL:ENSP00000444628.1", "UMLS:C3657266", "MESH:C581786"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y5A9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "YTH domain-containing family protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5A9-1", "PR:Q9Y5A9-1", "ENSEMBL:ENSP00000362918", "ENSEMBL:ENSP00000362918.3", "ENSEMBL:ENSP00000444660", "ENSEMBL:ENSP00000444660.1"], "information_content": 100.0}
{"id": "UniProtKB:P13637-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/potassium-transporting ATPase subunit alpha-3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P13637-3", "PR:P13637-3", "ENSEMBL:ENSP00000444688", "ENSEMBL:ENSP00000444688.1"], "information_content": 100.0}
{"id": "NCBIGene:85464", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSH2", "equivalent_identifiers": ["NCBIGene:85464", "ENSEMBL:ENSG00000141298", "HGNC:30580", "OMIM:606779", "UMLS:C1539856", "UniProtKB:A0A3B3ITS1", "ENSEMBL:ENSP00000497894", "ENSEMBL:ENSP00000497894.1", "UniProtKB:B4DK64", "UniProtKB:F5H527", "ENSEMBL:ENSP00000444743", "ENSEMBL:ENSP00000444743.1", "UniProtKB:Q76I76", "PR:Q76I76", "UMLS:C1999624", "MESH:C525231"]}
{"id": "NCBIGene:6999", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TDO2", "equivalent_identifiers": ["NCBIGene:6999", "ENSEMBL:ENSG00000151790", "HGNC:11708", "OMIM:191070", "UMLS:C1420674", "UniProtKB:P48775", "PR:P48775", "ENSEMBL:ENSP00000444788", "ENSEMBL:ENSP00000444788.2", "ENSEMBL:ENSP00000460086", "ENSEMBL:ENSP00000460086.1", "UMLS:C5441735"], "information_content": 95.4}
{"id": "UniProtKB:Q13451-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidyl-prolyl cis-trans isomerase FKBP5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13451-1", "PR:Q13451-1", "ENSEMBL:ENSP00000349811", "ENSEMBL:ENSP00000349811.3", "ENSEMBL:ENSP00000441205", "ENSEMBL:ENSP00000441205.1", "ENSEMBL:ENSP00000444810", "ENSEMBL:ENSP00000444810.1"], "information_content": 100.0}
{"id": "NCBIGene:53827", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FXYD5", "equivalent_identifiers": ["NCBIGene:53827", "ENSEMBL:ENSG00000089327", "HGNC:4029", "OMIM:606669", "UMLS:C1414878", "UniProtKB:F5H4X8", "ENSEMBL:ENSP00000444839", "ENSEMBL:ENSP00000444839.1", "ENSEMBL:ENSP00000467053", "ENSEMBL:ENSP00000467053.1", "UMLS:C1610466", "MESH:C451410", "UniProtKB:Q96DB9", "PR:Q96DB9"]}
{"id": "NCBIGene:160518", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DENND5B", "equivalent_identifiers": ["NCBIGene:160518", "ENSEMBL:ENSG00000170456", "HGNC:28338", "OMIM:617279", "UMLS:C2681407", "UniProtKB:G3V1S3", "ENSEMBL:ENSP00000444889", "ENSEMBL:ENSP00000444889.1", "UniProtKB:Q6ZUT9", "PR:Q6ZUT9"]}
{"id": "MONDO:0000980", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aortic atherosclerosis", "equivalent_identifiers": ["MONDO:0000980", "DOID:10230", "UMLS:C0155733", "MEDDRA:10002892", "MEDDRA:10003605", "NCIT:C197845", "SNOMEDCT:81817003", "medgen:510061", "ICD10:I70.0", "ICD9:440.0", "HP:0012397"], "information_content": 95.4}
{"id": "UniProtKB:Q86Y26-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NUT family member 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q86Y26-4", "PR:Q86Y26-4", "ENSEMBL:ENSP00000444896", "ENSEMBL:ENSP00000444896.1"], "information_content": 100.0}
{"id": "NCBIGene:5050", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAFAH1B3", "equivalent_identifiers": ["NCBIGene:5050", "ENSEMBL:ENSG00000079462", "HGNC:8576", "OMIM:603074", "UMLS:C1418247", "UniProtKB:A0A024R0L6", "UMLS:C3252801", "MESH:C568468", "UniProtKB:Q15102", "PR:Q15102", "ENSEMBL:ENSP00000262890", "ENSEMBL:ENSP00000262890.2", "ENSEMBL:ENSP00000444935", "ENSEMBL:ENSP00000444935.1"], "information_content": 92.8}
{"id": "NCBIGene:116519", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOA5", "equivalent_identifiers": ["NCBIGene:116519", "ENSEMBL:ENSG00000110243", "HGNC:17288", "OMIM:606368", "UMLS:C1424878", "UniProtKB:A0A0B4RUS7", "UniProtKB:Q6Q788", "PR:Q6Q788", "ENSEMBL:ENSP00000227665", "ENSEMBL:ENSP00000227665.4", "ENSEMBL:ENSP00000399701", "ENSEMBL:ENSP00000399701.2", "ENSEMBL:ENSP00000445002", "ENSEMBL:ENSP00000445002.1", "UMLS:C1310227", "MESH:C437704"], "information_content": 92.8}
{"id": "NCBIGene:10129", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FRY", "equivalent_identifiers": ["NCBIGene:10129", "ENSEMBL:ENSG00000073910", "HGNC:20367", "OMIM:614818", "UMLS:C1825319", "UniProtKB:A0A286YFA9", "ENSEMBL:ENSP00000493189", "ENSEMBL:ENSP00000493189.1", "UniProtKB:Q5TBA9", "PR:Q5TBA9", "ENSEMBL:ENSP00000445043", "ENSEMBL:ENSP00000445043.2", "UMLS:C5226100", "MESH:C000655011"], "information_content": 90.9}
{"id": "UniProtKB:P26439-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P26439-1", "PR:P26439-1", "ENSEMBL:ENSP00000358424", "ENSEMBL:ENSP00000358424.3", "ENSEMBL:ENSP00000445122", "ENSEMBL:ENSP00000445122.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NX02-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NACHT, LRR and PYD domains-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NX02-1", "PR:Q9NX02-1", "ENSEMBL:ENSP00000409370", "ENSEMBL:ENSP00000409370.2", "ENSEMBL:ENSP00000445135", "ENSEMBL:ENSP00000445135.1", "ENSEMBL:ENSP00000478265", "ENSEMBL:ENSP00000478265.1", "ENSEMBL:ENSP00000478450", "ENSEMBL:ENSP00000478450.1", "ENSEMBL:ENSP00000478774", "ENSEMBL:ENSP00000478774.1", "ENSEMBL:ENSP00000478876", "ENSEMBL:ENSP00000478876.1", "ENSEMBL:ENSP00000479109", "ENSEMBL:ENSP00000479109.1", "ENSEMBL:ENSP00000479220", "ENSEMBL:ENSP00000479220.1", "ENSEMBL:ENSP00000479352", "ENSEMBL:ENSP00000479352.1", "ENSEMBL:ENSP00000479713", "ENSEMBL:ENSP00000479713.1", "ENSEMBL:ENSP00000479783", "ENSEMBL:ENSP00000479783.1", "ENSEMBL:ENSP00000481851", "ENSEMBL:ENSP00000481851.1", "ENSEMBL:ENSP00000482253", "ENSEMBL:ENSP00000482253.1", "ENSEMBL:ENSP00000482889", "ENSEMBL:ENSP00000482889.1", "ENSEMBL:ENSP00000483281", "ENSEMBL:ENSP00000483281.1", "ENSEMBL:ENSP00000483528", "ENSEMBL:ENSP00000483528.1", "ENSEMBL:ENSP00000483963", "ENSEMBL:ENSP00000483963.1", "ENSEMBL:ENSP00000484354", "ENSEMBL:ENSP00000484354.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13889-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription factor IIH subunit 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13889-1", "PR:Q13889-1", "ENSEMBL:ENSP00000445162", "ENSEMBL:ENSP00000445162.1"], "information_content": 100.0}
{"id": "UniProtKB:P05023-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium/potassium-transporting ATPase subunit alpha-1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P05023-4", "PR:P05023-4", "ENSEMBL:ENSP00000445306", "ENSEMBL:ENSP00000445306.1"], "information_content": 100.0}
{"id": "NCBIGene:160728", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC5A8", "equivalent_identifiers": ["NCBIGene:160728", "ENSEMBL:ENSG00000256870", "HGNC:19119", "OMIM:608044", "UMLS:C1426025", "UniProtKB:Q8N695", "PR:Q8N695", "ENSEMBL:ENSP00000445340", "ENSEMBL:ENSP00000445340.2", "ENSEMBL:ENSP00000461697", "ENSEMBL:ENSP00000461697.2", "UMLS:C1311170", "UMLS:C4049850", "MESH:C476760"], "information_content": 89.4}
{"id": "NCBIGene:373863", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DND1", "equivalent_identifiers": ["NCBIGene:373863", "ENSEMBL:ENSG00000256453", "HGNC:23799", "OMIM:609385", "UMLS:C1428267", "UniProtKB:Q8IYX4", "PR:Q8IYX4", "ENSEMBL:ENSP00000445366", "ENSEMBL:ENSP00000445366.1", "UMLS:C3641876"], "information_content": 100.0}
{"id": "UniProtKB:O75747-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75747-1", "PR:O75747-1", "ENSEMBL:ENSP00000445381", "ENSEMBL:ENSP00000445381.1", "ENSEMBL:ENSP00000501770", "ENSEMBL:ENSP00000501770.1", "ENSEMBL:ENSP00000501889", "ENSEMBL:ENSP00000501889.1"], "information_content": 100.0}
{"id": "NCBIGene:26534", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10G2", "equivalent_identifiers": ["NCBIGene:26534", "ENSEMBL:ENSG00000255582", "HGNC:8170", "UMLS:C1417975", "UniProtKB:Q8NGC3", "PR:Q8NGC3", "ENSEMBL:ENSP00000445383", "ENSEMBL:ENSP00000445383.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15276-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab GTPase-binding effector protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15276-1", "PR:Q15276-1", "ENSEMBL:ENSP00000445408", "ENSEMBL:ENSP00000445408.2"], "information_content": 100.0}
{"id": "UniProtKB:Q16816-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q16816-2", "PR:Q16816-2", "ENSEMBL:ENSP00000445440", "ENSEMBL:ENSP00000445440.1"], "information_content": 100.0}
{"id": "UniProtKB:O15466-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-2,8-sialyltransferase 8E isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15466-2", "PR:O15466-2", "ENSEMBL:ENSP00000445492", "ENSEMBL:ENSP00000445492.1"], "information_content": 100.0}
{"id": "UniProtKB:O95628-10", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCR4-NOT transcription complex subunit 4 isoform 10 (human)", "equivalent_identifiers": ["UniProtKB:O95628-10", "PR:O95628-10", "ENSEMBL:ENSP00000445508", "ENSEMBL:ENSP00000445508.1"], "information_content": 100.0}
{"id": "NCBIGene:3787", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNS1", "equivalent_identifiers": ["NCBIGene:3787", "ENSEMBL:ENSG00000124134", "HGNC:6300", "OMIM:602905", "UMLS:C1416618", "UniProtKB:A2RUL8", "UMLS:C1610893", "MESH:C503456", "UniProtKB:Q96KK3", "PR:Q96KK3", "ENSEMBL:ENSP00000307694", "ENSEMBL:ENSP00000307694.1", "ENSEMBL:ENSP00000445595", "ENSEMBL:ENSP00000445595.1"], "information_content": 95.4}
{"id": "NCBIGene:1961", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EGR4", "equivalent_identifiers": ["NCBIGene:1961", "ENSEMBL:ENSG00000135625", "HGNC:3241", "OMIM:128992", "UMLS:C1414317", "UniProtKB:A0A0C4DG96", "ENSEMBL:ENSP00000419687", "ENSEMBL:ENSP00000419687.1", "UniProtKB:B7ZKU3", "UMLS:C1431202", "MESH:C111028", "UniProtKB:Q05215", "PR:Q05215", "ENSEMBL:ENSP00000445626", "ENSEMBL:ENSP00000445626.1"], "information_content": 100.0}
{"id": "NCBIGene:23532", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAME", "equivalent_identifiers": ["NCBIGene:23532", "ENSEMBL:ENSG00000185686", "HGNC:9336", "OMIM:606021", "UMLS:C1418865", "UniProtKB:B7Z7K8", "UniProtKB:B7Z986", "UniProtKB:B7ZAT0", "UniProtKB:P78395", "PR:P78395", "ENSEMBL:ENSP00000381726", "ENSEMBL:ENSP00000381726.1", "ENSEMBL:ENSP00000381728", "ENSEMBL:ENSP00000381728.2", "ENSEMBL:ENSP00000384343", "ENSEMBL:ENSP00000384343.3", "ENSEMBL:ENSP00000385198", "ENSEMBL:ENSP00000385198.1", "ENSEMBL:ENSP00000445097", "ENSEMBL:ENSP00000445097.2", "ENSEMBL:ENSP00000445675", "ENSEMBL:ENSP00000445675.1", "ENSEMBL:ENSP00000484066", "ENSEMBL:ENSP00000484066.1", "ENSEMBL:ENSP00000486330", "ENSEMBL:ENSP00000486330.1", "ENSEMBL:ENSP00000486485", "ENSEMBL:ENSP00000486485.1", "UMLS:C1438798", "MESH:C404944"], "information_content": 89.4}
{"id": "UniProtKB:E5RJM6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 65 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:E5RJM6-1", "PR:E5RJM6-1", "ENSEMBL:ENSP00000445688", "ENSEMBL:ENSP00000445688.1", "ENSEMBL:ENSP00000482314", "ENSEMBL:ENSP00000482314.1"], "information_content": 100.0}
{"id": "MONDO:0004815", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteosclerotic plasma cell myeloma", "equivalent_identifiers": ["MONDO:0004815", "DOID:9541", "UMLS:C1510415", "UMLS:C3898068", "NCIT:C7765", "SNOMEDCT:425657001", "medgen:857662"], "information_content": 100.0}
{"id": "MONDO:0006682", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachial plexus neuritis", "equivalent_identifiers": ["MONDO:0006682", "DOID:3689", "EFO:1000843", "UMLS:C0221759", "MESH:D020968", "MEDDRA:10006072", "MEDDRA:10052511", "MEDDRA:10063020", "MEDDRA:10073002", "NCIT:C84600", "SNOMEDCT:72893007", "medgen:113170"], "information_content": 95.4}
{"id": "UniProtKB:Q96K19-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF170 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96K19-1", "PR:Q96K19-1", "ENSEMBL:ENSP00000434797", "ENSEMBL:ENSP00000434797.1", "ENSEMBL:ENSP00000445725", "ENSEMBL:ENSP00000445725.1"], "information_content": 100.0}
{"id": "NCBIGene:7469", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NELFA", "equivalent_identifiers": ["NCBIGene:7469", "ENSEMBL:ENSG00000185049", "HGNC:12768", "OMIM:606026", "UMLS:C1421507", "UniProtKB:A0A0C4DFX9", "ENSEMBL:ENSP00000445757", "ENSEMBL:ENSP00000445757.2", "UniProtKB:Q9H3P2", "PR:Q9H3P2", "UMLS:C1438383", "MESH:C120899"]}
{"id": "NCBIGene:57189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DENND11", "equivalent_identifiers": ["NCBIGene:57189", "ENSEMBL:ENSG00000257093", "HGNC:29472", "OMIM:620122", "UMLS:C1825678", "UniProtKB:A4D1U4", "PR:A4D1U4", "ENSEMBL:ENSP00000445768", "ENSEMBL:ENSP00000445768.1", "ENSEMBL:ENSP00000459381", "ENSEMBL:ENSP00000459381.1"], "information_content": 92.8}
{"id": "NCBIGene:56413", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LTB4R2", "equivalent_identifiers": ["NCBIGene:56413", "ENSEMBL:ENSG00000213906", "HGNC:19260", "OMIM:605773", "UMLS:C1426125", "UniProtKB:B4E292", "UMLS:C1309638", "MESH:C485878", "UniProtKB:Q9NPC1", "PR:Q9NPC1", "ENSEMBL:ENSP00000433290", "ENSEMBL:ENSP00000433290.1", "ENSEMBL:ENSP00000445772", "ENSEMBL:ENSP00000445772.1", "ENSEMBL:ENSP00000494694", "ENSEMBL:ENSP00000494694.1", "ENSEMBL:ENSP00000494877", "ENSEMBL:ENSP00000494877.1"], "information_content": 95.4}
{"id": "NCBIGene:144809", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM216B", "equivalent_identifiers": ["NCBIGene:144809", "ENSEMBL:ENSG00000179813", "HGNC:26883", "UMLS:C3470298", "UniProtKB:Q8N7L0", "PR:Q8N7L0", "ENSEMBL:ENSP00000319336", "ENSEMBL:ENSP00000319336.1", "ENSEMBL:ENSP00000445786", "ENSEMBL:ENSP00000445786.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3ZCQ8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial import inner membrane translocase subunit TIM50 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q3ZCQ8-2", "PR:Q3ZCQ8-2", "ENSEMBL:ENSP00000445806", "ENSEMBL:ENSP00000445806.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8N1S5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc transporter ZIP11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1S5-1", "PR:Q8N1S5-1", "ENSEMBL:ENSP00000445829", "ENSEMBL:ENSP00000445829.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5QNW6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone H2B type 2-F isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5QNW6-2", "PR:Q5QNW6-2", "ENSEMBL:ENSP00000445831", "ENSEMBL:ENSP00000445831.1"], "information_content": 100.0}
{"id": "UniProtKB:Q4VC05-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-cell CLL/lymphoma 7 protein family member A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q4VC05-2", "PR:Q4VC05-2", "ENSEMBL:ENSP00000445868", "ENSEMBL:ENSP00000445868.1"], "information_content": 100.0}
{"id": "NCBIGene:326625", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MMAB", "equivalent_identifiers": ["NCBIGene:326625", "ENSEMBL:ENSG00000139428", "HGNC:19331", "OMIM:607568", "UMLS:C1426171", "UniProtKB:B4DHP4", "UniProtKB:Q96EY8", "PR:Q96EY8", "ENSEMBL:ENSP00000445920", "ENSEMBL:ENSP00000445920.1", "UMLS:C1432583", "MESH:C000627118"], "information_content": 89.4}
{"id": "UniProtKB:Q8TDB8-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 2, facilitated glucose transporter member 14 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDB8-5", "PR:Q8TDB8-5", "ENSEMBL:ENSP00000445929", "ENSEMBL:ENSP00000445929.1"], "information_content": 100.0}
{"id": "NCBIGene:7431", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VIM", "equivalent_identifiers": ["NCBIGene:7431", "ENSEMBL:ENSG00000026025", "HGNC:12692", "OMIM:193060", "UMLS:C1421451", "UniProtKB:P08670", "PR:P08670", "ENSEMBL:ENSP00000224237", "ENSEMBL:ENSP00000224237.5", "ENSEMBL:ENSP00000446007", "ENSEMBL:ENSP00000446007.1", "UMLS:C5196572", "MESH:C000629650", "UniProtKB:V9HWE1"], "information_content": 80.9}
{"id": "NCBIGene:50813", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COPS7A", "equivalent_identifiers": ["NCBIGene:50813", "ENSEMBL:ENSG00000111652", "HGNC:16758", "OMIM:616009", "UMLS:C1424522", "UniProtKB:Q9UBW8", "PR:Q9UBW8", "ENSEMBL:ENSP00000229251", "ENSEMBL:ENSP00000229251.3", "ENSEMBL:ENSP00000438115", "ENSEMBL:ENSP00000438115.1", "ENSEMBL:ENSP00000438363", "ENSEMBL:ENSP00000438363.1", "ENSEMBL:ENSP00000441852", "ENSEMBL:ENSP00000441852.1", "ENSEMBL:ENSP00000446039", "ENSEMBL:ENSP00000446039.1", "UMLS:C1143852", "MESH:C466088"], "information_content": 90.9}
{"id": "NCBIGene:56961", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SHD", "equivalent_identifiers": ["NCBIGene:56961", "ENSEMBL:ENSG00000105251", "HGNC:30633", "OMIM:610481", "UMLS:C1822716", "UniProtKB:Q96IW2", "PR:Q96IW2", "ENSEMBL:ENSP00000446058", "ENSEMBL:ENSP00000446058.1", "UMLS:C1435082", "MESH:C484611"], "information_content": 100.0}
{"id": "UniProtKB:Q9BSJ2-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-tubulin complex component 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSJ2-4", "PR:Q9BSJ2-4", "ENSEMBL:ENSP00000446093", "ENSEMBL:ENSP00000446093.1"], "information_content": 100.0}
{"id": "NCBIGene:494115", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBMXL1", "equivalent_identifiers": ["NCBIGene:494115", "ENSEMBL:ENSG00000213516", "HGNC:25073", "UMLS:C2828594", "UniProtKB:Q96E39", "PR:Q96E39", "ENSEMBL:ENSP00000318415", "ENSEMBL:ENSP00000318415.5", "ENSEMBL:ENSP00000446099", "ENSEMBL:ENSP00000446099.1", "ENSEMBL:ENSP00000498248", "ENSEMBL:ENSP00000498248.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IY22-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-Maf-inducing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY22-1", "PR:Q8IY22-1", "ENSEMBL:ENSP00000446100", "ENSEMBL:ENSP00000446100.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXR9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C12orf56 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXR9-1", "PR:Q8IXR9-1", "ENSEMBL:ENSP00000446101", "ENSEMBL:ENSP00000446101.2"], "information_content": 100.0}
{"id": "UniProtKB:Q5JTH9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RRP12-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JTH9-1", "PR:Q5JTH9-1", "ENSEMBL:ENSP00000360031", "ENSEMBL:ENSP00000360031.4", "ENSEMBL:ENSP00000446184", "ENSEMBL:ENSP00000446184.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYE0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor HES-7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYE0-2", "PR:Q9BYE0-2", "ENSEMBL:ENSP00000446205", "ENSEMBL:ENSP00000446205.2"], "information_content": 100.0}
{"id": "NCBIGene:5901", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAN", "equivalent_identifiers": ["NCBIGene:5901", "ENSEMBL:ENSG00000132341", "HGNC:9846", "OMIM:601179", "UMLS:C1419257", "UniProtKB:B4DV51", "ENSEMBL:ENSP00000441210", "ENSEMBL:ENSP00000441210.1", "UMLS:C1438370", "MESH:C120587", "UniProtKB:P62826", "PR:P62826", "ENSEMBL:ENSP00000376176", "ENSEMBL:ENSP00000376176.2", "ENSEMBL:ENSP00000446215", "ENSEMBL:ENSP00000446215.1", "UMLS:C4521305"], "information_content": 88.2}
{"id": "NCBIGene:1468", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A10", "equivalent_identifiers": ["NCBIGene:1468", "ENSEMBL:ENSG00000183048", "HGNC:10980", "OMIM:606794", "UMLS:C1420151", "UniProtKB:A0A0S2Z382", "UniProtKB:A0A0S2Z3G3", "UniProtKB:B4E1E9", "UniProtKB:F6RGN5", "ENSEMBL:ENSP00000446242", "ENSEMBL:ENSP00000446242.2", "UniProtKB:Q9UBX3", "PR:Q9UBX3"]}
{"id": "UniProtKB:P04179-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "superoxide dismutase [Mn], mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P04179-1", "PR:P04179-1", "ENSEMBL:ENSP00000356022", "ENSEMBL:ENSP00000356022.4", "ENSEMBL:ENSP00000446252", "ENSEMBL:ENSP00000446252.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8ND56-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein LSM14 homolog A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8ND56-2", "PR:Q8ND56-2", "ENSEMBL:ENSP00000446271", "ENSEMBL:ENSP00000446271.2", "ENSEMBL:ENSP00000461225", "ENSEMBL:ENSP00000461225.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92824-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proprotein convertase subtilisin/kexin type 5 isoform hPC6B (human)", "equivalent_identifiers": ["UniProtKB:Q92824-1", "PR:Q92824-1", "ENSEMBL:ENSP00000446280", "ENSEMBL:ENSP00000446280.1"], "information_content": 100.0}
{"id": "NCBIGene:11153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FICD", "equivalent_identifiers": ["NCBIGene:11153", "ENSEMBL:ENSG00000198855", "HGNC:18416", "OMIM:620875", "UMLS:C2239453", "UniProtKB:Q9BVA6", "PR:Q9BVA6", "ENSEMBL:ENSP00000446479", "ENSEMBL:ENSP00000446479.1", "UMLS:C2716548", "MESH:C541422"], "information_content": 95.4}
{"id": "NCBIGene:121355", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GTSF1", "equivalent_identifiers": ["NCBIGene:121355", "ENSEMBL:ENSG00000170627", "HGNC:26565", "OMIM:617484", "UMLS:C1825244", "UniProtKB:Q8WW33", "PR:Q8WW33", "ENSEMBL:ENSP00000304185", "ENSEMBL:ENSP00000304185.5", "ENSEMBL:ENSP00000446485", "ENSEMBL:ENSP00000446485.1", "UMLS:C3502216", "MESH:C575258"], "information_content": 100.0}
{"id": "UniProtKB:Q99700-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ataxin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99700-1", "PR:Q99700-1", "ENSEMBL:ENSP00000446576", "ENSEMBL:ENSP00000446576.2"], "information_content": 100.0}
{"id": "NCBIGene:3227", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXC11", "equivalent_identifiers": ["NCBIGene:3227", "ENSEMBL:ENSG00000123388", "HGNC:5123", "OMIM:605559", "UMLS:C1415675", "UniProtKB:O43248", "PR:O43248", "ENSEMBL:ENSP00000446680", "ENSEMBL:ENSP00000446680.1", "UMLS:C1436381", "UMLS:C3273500", "MESH:C484731"], "information_content": 95.4}
{"id": "UniProtKB:O95861-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3'(2'),5'-bisphosphate nucleotidase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O95861-1", "PR:O95861-1", "ENSEMBL:ENSP00000318852", "ENSEMBL:ENSP00000318852.7", "ENSEMBL:ENSP00000446828", "ENSEMBL:ENSP00000446828.1"], "information_content": 100.0}
{"id": "NCBIGene:79962", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJC22", "equivalent_identifiers": ["NCBIGene:79962", "ENSEMBL:ENSG00000178401", "HGNC:25802", "UMLS:C2681417", "UniProtKB:Q8N4W6", "PR:Q8N4W6", "ENSEMBL:ENSP00000378508", "ENSEMBL:ENSP00000378508.2", "ENSEMBL:ENSP00000446830", "ENSEMBL:ENSP00000446830.1", "ENSEMBL:ENSP00000498036", "ENSEMBL:ENSP00000498036.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9UIF9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bromodomain adjacent to zinc finger domain protein 2A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIF9-1", "PR:Q9UIF9-1", "ENSEMBL:ENSP00000446880", "ENSEMBL:ENSP00000446880.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A0B4J2F6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A0B4J2F6_HUMAN Nuclear pore complex interacting protein family member A2 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A0B4J2F6", "ENSEMBL:ENSP00000446882", "ENSEMBL:ENSP00000446882.1", "ENSEMBL:ENSP00000484195", "ENSEMBL:ENSP00000484195.1"]}
{"id": "UniProtKB:A0AAK2S2Q9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0AAK2S2Q9_HUMAN Nuclear pore complex interacting protein family member B9 (trembl)", "equivalent_identifiers": ["UniProtKB:A0AAK2S2Q9", "ENSEMBL:ENSP00000446902", "ENSEMBL:ENSP00000446902.2"]}
{"id": "NCBIGene:136541", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS58", "equivalent_identifiers": ["NCBIGene:136541", "ENSEMBL:ENSG00000258223", "HGNC:39125", "UMLS:C3148644", "UniProtKB:Q8IYP2", "PR:Q8IYP2", "ENSEMBL:ENSP00000446916", "ENSEMBL:ENSP00000446916.1", "ENSEMBL:ENSP00000447588", "ENSEMBL:ENSP00000447588.2", "ENSEMBL:ENSP00000478535", "ENSEMBL:ENSP00000478535.1", "ENSEMBL:ENSP00000479165", "ENSEMBL:ENSP00000479165.1"], "information_content": 95.4}
{"id": "UniProtKB:P60660-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin light polypeptide 6 isoform Non-muscle (human)", "equivalent_identifiers": ["UniProtKB:P60660-1", "PR:P60660-1", "ENSEMBL:ENSP00000446955", "ENSEMBL:ENSP00000446955.2", "ENSEMBL:ENSP00000448101", "ENSEMBL:ENSP00000448101.1"], "information_content": 100.0}
{"id": "MONDO:0014428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 102", "equivalent_identifiers": ["MONDO:0014428", "DOID:0110463", "OMIM:615974", "UMLS:C3892050", "medgen:856149"], "information_content": 100.0}
{"id": "UniProtKB:H0YHG0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H0YHG0_HUMAN DnaJ homolog subfamily C member 14 (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:H0YHG0", "ENSEMBL:ENSP00000447000", "ENSEMBL:ENSP00000447000.1"]}
{"id": "UniProtKB:Q07020-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein eL18 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q07020-1", "PR:Q07020-1", "ENSEMBL:ENSP00000447001", "ENSEMBL:ENSP00000447001.1"], "information_content": 100.0}
{"id": "UniProtKB:Q12860-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "contactin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12860-1", "PR:Q12860-1", "ENSEMBL:ENSP00000325660", "ENSEMBL:ENSP00000325660.3", "ENSEMBL:ENSP00000447006", "ENSEMBL:ENSP00000447006.1"], "information_content": 100.0}
{"id": "UniProtKB:P51148-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-5C isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P51148-2", "PR:P51148-2", "ENSEMBL:ENSP00000447053", "ENSEMBL:ENSP00000447053.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6J4K2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial sodium/calcium exchanger protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6J4K2-1", "PR:Q6J4K2-1", "ENSEMBL:ENSP00000202831", "ENSEMBL:ENSP00000202831.3", "ENSEMBL:ENSP00000447091", "ENSEMBL:ENSP00000447091.1", "ENSEMBL:ENSP00000506377", "ENSEMBL:ENSP00000506377.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96RI1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bile acid receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RI1-3", "PR:Q96RI1-3", "ENSEMBL:ENSP00000447149", "ENSEMBL:ENSP00000447149.1"], "information_content": 100.0}
{"id": "NCBIGene:283310", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OTOGL", "equivalent_identifiers": ["NCBIGene:283310", "ENSEMBL:ENSG00000165899", "HGNC:26901", "OMIM:614925", "UMLS:C2240302", "UniProtKB:A0A2R8YF04", "ENSEMBL:ENSP00000496036", "ENSEMBL:ENSP00000496036.1", "UniProtKB:Q3ZCN5", "PR:Q3ZCN5", "ENSEMBL:ENSP00000447211", "ENSEMBL:ENSP00000447211.2"], "information_content": 100.0}
{"id": "NCBIGene:10818", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FRS2", "equivalent_identifiers": ["NCBIGene:10818", "ENSEMBL:ENSG00000166225", "HGNC:16971", "OMIM:607743", "UMLS:C1333578", "UniProtKB:L7RTG7", "UniProtKB:Q8WU20", "PR:Q8WU20", "ENSEMBL:ENSP00000381083", "ENSEMBL:ENSP00000381083.2", "ENSEMBL:ENSP00000447241", "ENSEMBL:ENSP00000447241.1", "ENSEMBL:ENSP00000450048", "ENSEMBL:ENSP00000450048.1", "UMLS:C0540129", "MESH:C106534"], "information_content": 87.2}
{"id": "UniProtKB:P36897-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TGF-beta receptor type-1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P36897-2", "PR:P36897-2", "ENSEMBL:ENSP00000447297", "ENSEMBL:ENSP00000447297.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96QF0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab-3A-interacting protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QF0-1", "PR:Q96QF0-1", "ENSEMBL:ENSP00000447300", "ENSEMBL:ENSP00000447300.1"], "information_content": 100.0}
{"id": "UniProtKB:O43451-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "maltase-glucoamylase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43451-1", "PR:O43451-1", "ENSEMBL:ENSP00000447378", "ENSEMBL:ENSP00000447378.2", "ENSEMBL:ENSP00000482292", "ENSEMBL:ENSP00000482292.1"], "information_content": 100.0}
{"id": "NCBIGene:8825", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIN7A", "equivalent_identifiers": ["NCBIGene:8825", "ENSEMBL:ENSG00000111052", "HGNC:17787", "OMIM:603380", "UMLS:C1425075", "UniProtKB:O14910", "PR:O14910", "ENSEMBL:ENSP00000447488", "ENSEMBL:ENSP00000447488.1", "UMLS:C1433435", "MESH:C486532"], "information_content": 92.8}
{"id": "UniProtKB:P78537-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "biogenesis of lysosome-related organelles complex 1 subunit 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78537-1", "PR:P78537-1", "ENSEMBL:ENSP00000447537", "ENSEMBL:ENSP00000447537.1"], "information_content": 100.0}
{"id": "NCBIGene:80298", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTERF2", "equivalent_identifiers": ["NCBIGene:80298", "ENSEMBL:ENSG00000120832", "HGNC:30779", "OMIM:616929", "UMLS:C1826319", "UniProtKB:Q49AM1", "PR:Q49AM1", "ENSEMBL:ENSP00000240050", "ENSEMBL:ENSP00000240050.4", "ENSEMBL:ENSP00000376575", "ENSEMBL:ENSP00000376575.2", "ENSEMBL:ENSP00000447651", "ENSEMBL:ENSP00000447651.1", "ENSEMBL:ENSP00000518873", "ENSEMBL:ENSP00000518873.1", "UMLS:C1669528", "MESH:C506545"], "information_content": 95.4}
{"id": "NCBIGene:255783", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INAFM1", "equivalent_identifiers": ["NCBIGene:255783", "ENSEMBL:ENSG00000257704", "HGNC:27406", "UMLS:C3892010", "UniProtKB:C9JVW0", "PR:C9JVW0", "ENSEMBL:ENSP00000447679", "ENSEMBL:ENSP00000447679.1"], "information_content": 100.0}
{"id": "MONDO:0003321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary Wilms tumor", "equivalent_identifiers": ["MONDO:0003321", "DOID:5183", "OMIM.PS:194070", "UMLS:C0677779", "NCIT:C8496", "medgen:146190"], "information_content": 87.2}
{"id": "UniProtKB:P08962-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD63 antigen isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P08962-1", "PR:P08962-1", "ENSEMBL:ENSP00000257857", "ENSEMBL:ENSP00000257857.4", "ENSEMBL:ENSP00000393502", "ENSEMBL:ENSP00000393502.3", "ENSEMBL:ENSP00000447730", "ENSEMBL:ENSP00000447730.1", "ENSEMBL:ENSP00000449337", "ENSEMBL:ENSP00000449337.1"], "information_content": 100.0}
{"id": "NCBIGene:100528030", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POC1B-GALNT4", "equivalent_identifiers": ["NCBIGene:100528030", "ENSEMBL:ENSG00000259075", "HGNC:42957", "UMLS:C3471413", "UniProtKB:F8VUJ3", "ENSEMBL:ENSP00000447852", "ENSEMBL:ENSP00000447852.1"]}
{"id": "UniProtKB:Q99471-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prefoldin subunit 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99471-1", "PR:Q99471-1", "ENSEMBL:ENSP00000334188", "ENSEMBL:ENSP00000334188.4", "ENSEMBL:ENSP00000447942", "ENSEMBL:ENSP00000447942.1", "ENSEMBL:ENSP00000517421", "ENSEMBL:ENSP00000517421.1", "ENSEMBL:ENSP00000517429", "ENSEMBL:ENSP00000517429.1"], "information_content": 100.0}
{"id": "NCBIGene:80184", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEP290", "equivalent_identifiers": ["NCBIGene:80184", "ENSEMBL:ENSG00000198707", "HGNC:29021", "OMIM:610142", "UMLS:C1824725", "UniProtKB:A0A6Q8PGB1", "ENSEMBL:ENSP00000502161", "ENSEMBL:ENSP00000502161.1", "UniProtKB:A0A6Q8PGP6", "ENSEMBL:ENSP00000502298", "ENSEMBL:ENSP00000502298.1", "UniProtKB:J3KNF5", "ENSEMBL:ENSP00000308021", "ENSEMBL:ENSP00000308021.8", "UniProtKB:O15078", "PR:O15078", "ENSEMBL:ENSP00000448012", "ENSEMBL:ENSP00000448012.1", "UniProtKB:Q05BJ6"], "information_content": 95.4}
{"id": "UniProtKB:E9PAV3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nascent polypeptide-associated complex subunit alpha, muscle-specific form isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:E9PAV3-2", "PR:E9PAV3-2", "ENSEMBL:ENSP00000448035", "ENSEMBL:ENSP00000448035.1"], "information_content": 100.0}
{"id": "NCBIGene:79023", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUP37", "equivalent_identifiers": ["NCBIGene:79023", "ENSEMBL:ENSG00000075188", "HGNC:29929", "OMIM:609264", "UMLS:C1428909", "UniProtKB:B4DKV8", "UniProtKB:Q8NFH4", "PR:Q8NFH4", "ENSEMBL:ENSP00000251074", "ENSEMBL:ENSP00000251074.1", "ENSEMBL:ENSP00000448054", "ENSEMBL:ENSP00000448054.1", "UMLS:C5772013", "MESH:C000723436"], "information_content": 90.9}
{"id": "NCBIGene:5053", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PAH", "equivalent_identifiers": ["NCBIGene:5053", "ENSEMBL:ENSG00000171759", "HGNC:8582", "OMIM:612349", "UMLS:C1418251", "UniProtKB:P00439", "PR:P00439", "ENSEMBL:ENSP00000448059", "ENSEMBL:ENSP00000448059.1", "UMLS:C5890890"], "information_content": 89.4}
{"id": "NCBIGene:641455", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POTEM", "equivalent_identifiers": ["NCBIGene:641455", "ENSEMBL:ENSG00000222036", "HGNC:37096", "UMLS:C2828542", "UniProtKB:A6NI47", "PR:A6NI47", "ENSEMBL:ENSP00000448062", "ENSEMBL:ENSP00000448062.2"], "information_content": 100.0}
{"id": "NCBIGene:9194", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC16A7", "equivalent_identifiers": ["NCBIGene:9194", "ENSEMBL:ENSG00000118596", "HGNC:10928", "OMIM:603654", "UMLS:C1420108", "UniProtKB:O60669", "PR:O60669", "ENSEMBL:ENSP00000261187", "ENSEMBL:ENSP00000261187.4", "ENSEMBL:ENSP00000448071", "ENSEMBL:ENSP00000448071.1", "ENSEMBL:ENSP00000448742", "ENSEMBL:ENSP00000448742.1", "ENSEMBL:ENSP00000449547", "ENSEMBL:ENSP00000449547.1", "UMLS:C1505530", "MESH:C490427"], "information_content": 100.0}
{"id": "NCBIGene:25766", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRPF40B", "equivalent_identifiers": ["NCBIGene:25766", "ENSEMBL:ENSG00000110844", "HGNC:25031", "OMIM:621019", "UMLS:C1826710", "UniProtKB:A0A8Z5ADK7", "ENSEMBL:ENSP00000369634", "ENSEMBL:ENSP00000369634.2", "UniProtKB:F8VU11", "ENSEMBL:ENSP00000448073", "ENSEMBL:ENSP00000448073.2", "UniProtKB:Q6NWY9", "PR:Q6NWY9", "UMLS:C4042328", "MESH:C000596821"]}
{"id": "MONDO:0005670", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "blackwater fever", "equivalent_identifiers": ["MONDO:0005670", "DOID:14068", "EFO:0007172", "UMLS:C0005681", "MESH:D001742", "MEDDRA:10004984", "NCIT:C34426", "SNOMEDCT:56625005", "medgen:2277", "ICD9:084.8"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULQ1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "two pore channel protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULQ1-3", "PR:Q9ULQ1-3", "ENSEMBL:ENSP00000438125", "ENSEMBL:ENSP00000438125.1", "ENSEMBL:ENSP00000448083", "ENSEMBL:ENSP00000448083.1"], "information_content": 100.0}
{"id": "UniProtKB:O14727-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apoptotic protease-activating factor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14727-1", "PR:O14727-1", "ENSEMBL:ENSP00000448165", "ENSEMBL:ENSP00000448165.2", "ENSEMBL:ENSP00000520503", "ENSEMBL:ENSP00000520503.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TC07-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TC07-1", "PR:Q8TC07-1", "ENSEMBL:ENSP00000448182", "ENSEMBL:ENSP00000448182.1"], "information_content": 100.0}
{"id": "NCBIGene:5726", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAS2R38", "equivalent_identifiers": ["NCBIGene:5726", "ENSEMBL:ENSG00000257138", "HGNC:9584", "OMIM:607751", "UMLS:C1419055", "UniProtKB:P59533", "PR:P59533", "ENSEMBL:ENSP00000448219", "ENSEMBL:ENSP00000448219.1", "UMLS:C1175211", "MESH:C000730095"], "information_content": 100.0}
{"id": "NCBIGene:3851", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRT4", "equivalent_identifiers": ["NCBIGene:3851", "ENSEMBL:ENSG00000170477", "HGNC:6441", "OMIM:123940", "UMLS:C1416741", "UniProtKB:P19013", "PR:P19013", "ENSEMBL:ENSP00000448220", "ENSEMBL:ENSP00000448220.1"], "information_content": 92.8}
{"id": "UniProtKB:Q4G1C9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GLIPR1-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4G1C9-1", "PR:Q4G1C9-1", "ENSEMBL:ENSP00000448248", "ENSEMBL:ENSP00000448248.1"], "information_content": 100.0}
{"id": "NCBIGene:54831", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BEST2", "equivalent_identifiers": ["NCBIGene:54831", "ENSEMBL:ENSG00000039987", "HGNC:17107", "OMIM:607335", "UMLS:C1826422", "UniProtKB:Q8NFU1", "PR:Q8NFU1", "ENSEMBL:ENSP00000042931", "ENSEMBL:ENSP00000042931.1", "ENSEMBL:ENSP00000447203", "ENSEMBL:ENSP00000447203.1", "ENSEMBL:ENSP00000448310", "ENSEMBL:ENSP00000448310.1", "UMLS:C1143781", "MESH:C465970"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2S9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein Eos isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2S9-1", "PR:Q9H2S9-1", "ENSEMBL:ENSP00000262032", "ENSEMBL:ENSP00000262032.5", "ENSEMBL:ENSP00000412101", "ENSEMBL:ENSP00000412101.3", "ENSEMBL:ENSP00000448419", "ENSEMBL:ENSP00000448419.1"], "information_content": 100.0}
{"id": "NCBIGene:387882", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C12orf75", "equivalent_identifiers": ["NCBIGene:387882", "ENSEMBL:ENSG00000235162", "HGNC:35164", "UMLS:C2681282", "UniProtKB:Q8TAD7", "PR:Q8TAD7", "ENSEMBL:ENSP00000448536", "ENSEMBL:ENSP00000448536.2", "UMLS:C4549532", "MESH:C000622319"], "information_content": 100.0}
{"id": "NCBIGene:121599", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPIC", "equivalent_identifiers": ["NCBIGene:121599", "ENSEMBL:ENSG00000166211", "HGNC:29549", "OMIM:612568", "UMLS:C1428871", "UniProtKB:Q8N5J4", "PR:Q8N5J4", "ENSEMBL:ENSP00000448580", "ENSEMBL:ENSP00000448580.1", "UMLS:C1450141", "MESH:C486039"], "information_content": 95.4}
{"id": "MONDO:0011225", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe combined immunodeficiency due to DCLRE1C deficiency", "equivalent_identifiers": ["MONDO:0011225", "DOID:0090012", "OMIM:602450", "orphanet:275", "UMLS:C1865370", "UMLS:C1865371", "UMLS:C1865373", "MESH:C536786", "MESH:C537589", "NCIT:C162694", "SNOMEDCT:715982006", "medgen:355454", "ICD10:D81.1"], "information_content": 100.0}
{"id": "UniProtKB:P35638-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000448665", "equivalent_identifiers": ["UniProtKB:P35638-2", "ENSEMBL:ENSP00000447803", "ENSEMBL:ENSP00000447803.1", "ENSEMBL:ENSP00000448665", "ENSEMBL:ENSP00000448665.1"]}
{"id": "UniProtKB:Q96K30-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RBPJ-interacting and tubulin-associated protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96K30-3", "PR:Q96K30-3", "ENSEMBL:ENSP00000448680", "ENSEMBL:ENSP00000448680.1"], "information_content": 100.0}
{"id": "MONDO:0013995", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cholestasis, intrahepatic, of pregnancy, 3", "equivalent_identifiers": ["MONDO:0013995", "DOID:0070229", "OMIM:614972", "EFO:0009150", "UMLS:C3554241", "medgen:767155"], "information_content": 100.0}
{"id": "MONDO:0014443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bardet-Biedl syndrome 15", "equivalent_identifiers": ["MONDO:0014443", "DOID:0110137", "OMIM:615992", "UMLS:C3150127", "medgen:461477"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9I9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable E3 ubiquitin-protein ligase DTX3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9I9-2", "PR:Q8N9I9-2", "ENSEMBL:ENSP00000448696", "ENSEMBL:ENSP00000448696.1"], "information_content": 100.0}
{"id": "NCBIGene:25840", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMT1A", "equivalent_identifiers": ["NCBIGene:25840", "ENSEMBL:ENSG00000185432", "HGNC:24550", "OMIM:618338", "UMLS:C1825976", "UniProtKB:Q9H8H3", "PR:Q9H8H3", "ENSEMBL:ENSP00000331787", "ENSEMBL:ENSP00000331787.4", "ENSEMBL:ENSP00000447542", "ENSEMBL:ENSP00000447542.1", "ENSEMBL:ENSP00000448785", "ENSEMBL:ENSP00000448785.1"], "information_content": 95.4}
{"id": "NCBIGene:642778", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPIPA3", "equivalent_identifiers": ["NCBIGene:642778", "ENSEMBL:ENSG00000224712", "HGNC:41978", "UMLS:C3812016", "UniProtKB:E9PNV8", "ENSEMBL:ENSP00000437133", "ENSEMBL:ENSP00000437133.1", "UniProtKB:F8WFD2", "PR:F8WFD2", "ENSEMBL:ENSP00000448841", "ENSEMBL:ENSP00000448841.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCS2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 4F12 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCS2-1", "PR:Q9HCS2-1", "ENSEMBL:ENSP00000321821", "ENSEMBL:ENSP00000321821.9", "ENSEMBL:ENSP00000448998", "ENSEMBL:ENSP00000448998.1"], "information_content": 100.0}
{"id": "NCBIGene:440153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR11H12", "equivalent_identifiers": ["NCBIGene:440153", "ENSEMBL:ENSG00000257115", "HGNC:30738", "UMLS:C1538549", "UniProtKB:B2RN74", "PR:B2RN74", "ENSEMBL:ENSP00000449002", "ENSEMBL:ENSP00000449002.1"], "information_content": 100.0}
{"id": "NCBIGene:6171", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL41", "equivalent_identifiers": ["NCBIGene:6171", "ENSEMBL:ENSG00000229117", "HGNC:10354", "OMIM:613315", "UMLS:C1419677", "UniProtKB:A0A024RB15", "ENSEMBL:ENSP00000484734", "UMLS:C0654025", "MESH:C076844", "UniProtKB:P62945", "PR:P62945", "ENSEMBL:ENSP00000420821", "ENSEMBL:ENSP00000420821.3", "ENSEMBL:ENSP00000449026", "ENSEMBL:ENSP00000449026.1"], "information_content": 100.0}
{"id": "UniProtKB:Q12852-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 12 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q12852-2", "PR:Q12852-2", "ENSEMBL:ENSP00000448689", "ENSEMBL:ENSP00000448689.1", "ENSEMBL:ENSP00000449038", "ENSEMBL:ENSP00000449038.1"], "information_content": 100.0}
{"id": "NCBIGene:145226", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RDH12", "equivalent_identifiers": ["NCBIGene:145226", "ENSEMBL:ENSG00000139988", "HGNC:19977", "OMIM:608830", "UMLS:C1426577", "UniProtKB:A0A0S2Z613", "UMLS:C1506218", "MESH:C489649", "UniProtKB:Q96NR8", "PR:Q96NR8", "ENSEMBL:ENSP00000267502", "ENSEMBL:ENSP00000267502.3", "ENSEMBL:ENSP00000449079", "ENSEMBL:ENSP00000449079.1"], "information_content": 89.4}
{"id": "UniProtKB:O00429-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynamin-1-like protein isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:O00429-6", "PR:O00429-6", "ENSEMBL:ENSP00000449089", "ENSEMBL:ENSP00000449089.1"], "information_content": 100.0}
{"id": "NCBIGene:646457", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C19orf67", "equivalent_identifiers": ["NCBIGene:646457", "ENSEMBL:ENSG00000188032", "HGNC:34354", "UMLS:C2681310", "UniProtKB:A6NJJ6", "PR:A6NJJ6", "ENSEMBL:ENSP00000449137", "ENSEMBL:ENSP00000449137.1", "ENSEMBL:ENSP00000500362", "ENSEMBL:ENSP00000500362.1"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000449241", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000449241", "equivalent_identifiers": ["ENSEMBL:ENSP00000449241"]}
{"id": "UniProtKB:Q96PR1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated potassium channel KCNC2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PR1-1", "PR:Q96PR1-1", "ENSEMBL:ENSP00000449253", "ENSEMBL:ENSP00000449253.2"], "information_content": 100.0}
{"id": "UniProtKB:P61923-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coatomer subunit zeta-1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:P61923-4", "PR:P61923-4", "ENSEMBL:ENSP00000449270", "ENSEMBL:ENSP00000449270.1"], "information_content": 100.0}
{"id": "UniProtKB:P05388-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein uL10 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P05388-1", "PR:P05388-1", "ENSEMBL:ENSP00000339027", "ENSEMBL:ENSP00000339027.3", "ENSEMBL:ENSP00000376299", "ENSEMBL:ENSP00000376299.4", "ENSEMBL:ENSP00000449328", "ENSEMBL:ENSP00000449328.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IW41-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAP kinase-activated protein kinase 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IW41-1", "PR:Q8IW41-1", "ENSEMBL:ENSP00000449381", "ENSEMBL:ENSP00000449381.2"], "information_content": 100.0}
{"id": "UniProtKB:Q15020-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "squamous cell carcinoma antigen recognized by T-cells 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15020-1", "PR:Q15020-1", "ENSEMBL:ENSP00000449386", "ENSEMBL:ENSP00000449386.2"], "information_content": 100.0}
{"id": "NCBIGene:6601", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMARCC2", "equivalent_identifiers": ["NCBIGene:6601", "ENSEMBL:ENSG00000139613", "HGNC:11105", "OMIM:601734", "UMLS:C1335846", "UniProtKB:F8VXC8", "ENSEMBL:ENSP00000449396", "ENSEMBL:ENSP00000449396.1", "UniProtKB:Q8TAQ2", "PR:Q8TAQ2", "UMLS:C1430442", "MESH:C101682"]}
{"id": "UniProtKB:P05787-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "keratin, type II cytoskeletal 8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P05787-2", "PR:P05787-2", "ENSEMBL:ENSP00000449404", "ENSEMBL:ENSP00000449404.1"], "information_content": 100.0}
{"id": "UniProtKB:Q12792-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "twinfilin-1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q12792-3", "PR:Q12792-3", "ENSEMBL:ENSP00000449428", "ENSEMBL:ENSP00000449428.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6R3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-CoA synthetase short-chain family member 3, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6R3-1", "PR:Q9H6R3-1", "ENSEMBL:ENSP00000449535", "ENSEMBL:ENSP00000449535.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6G8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6G8-1", "PR:Q7Z6G8-1", "ENSEMBL:ENSP00000449629", "ENSEMBL:ENSP00000449629.2"], "information_content": 100.0}
{"id": "UniProtKB:Q99788-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chemerin-like receptor 1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q99788-1", "PR:Q99788-1", "ENSEMBL:ENSP00000311733", "ENSEMBL:ENSP00000311733.7", "ENSEMBL:ENSP00000401293", "ENSEMBL:ENSP00000401293.1", "ENSEMBL:ENSP00000449716", "ENSEMBL:ENSP00000449716.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NYL4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidyl-prolyl cis-trans isomerase FKBP11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYL4-1", "PR:Q9NYL4-1", "ENSEMBL:ENSP00000449751", "ENSEMBL:ENSP00000449751.1"], "information_content": 100.0}
{"id": "NCBIGene:81539", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC38A1", "equivalent_identifiers": ["NCBIGene:81539", "ENSEMBL:ENSG00000111371", "HGNC:13447", "OMIM:608490", "UMLS:C1421999", "UniProtKB:F8VX04", "ENSEMBL:ENSP00000449756", "ENSEMBL:ENSP00000449756.1", "ENSEMBL:ENSP00000478907", "ENSEMBL:ENSP00000478907.1", "UMLS:C1448244", "MESH:C445761", "UniProtKB:Q9H2H9", "PR:Q9H2H9", "ENSEMBL:ENSP00000381634", "ENSEMBL:ENSP00000381634.4", "ENSEMBL:ENSP00000398142", "ENSEMBL:ENSP00000398142.1", "ENSEMBL:ENSP00000447853", "ENSEMBL:ENSP00000447853.1", "ENSEMBL:ENSP00000449607", "ENSEMBL:ENSP00000449607.1"]}
{"id": "NCBIGene:90488", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM263", "equivalent_identifiers": ["NCBIGene:90488", "ENSEMBL:ENSG00000151135", "HGNC:28281", "UMLS:C1824344", "UniProtKB:Q8WUH6", "PR:Q8WUH6", "ENSEMBL:ENSP00000280756", "ENSEMBL:ENSP00000280756.4", "ENSEMBL:ENSP00000446537", "ENSEMBL:ENSP00000446537.1", "ENSEMBL:ENSP00000446717", "ENSEMBL:ENSP00000446717.1", "ENSEMBL:ENSP00000449106", "ENSEMBL:ENSP00000449106.1", "ENSEMBL:ENSP00000449785", "ENSEMBL:ENSP00000449785.1", "ENSEMBL:ENSP00000450350", "ENSEMBL:ENSP00000450350.1", "UMLS:C5690501", "MESH:C000722565"], "information_content": 100.0}
{"id": "NCBIGene:51499", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIAP1", "equivalent_identifiers": ["NCBIGene:51499", "ENSEMBL:ENSG00000170855", "HGNC:26937", "OMIM:614943", "UMLS:C1823486", "UniProtKB:O43715", "PR:O43715", "ENSEMBL:ENSP00000449795", "ENSEMBL:ENSP00000449795.1", "UMLS:C1567287", "MESH:C498536"], "information_content": 83.6}
{"id": "UniProtKB:Q9NY25-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 5 member A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NY25-1", "PR:Q9NY25-1", "ENSEMBL:ENSP00000449999", "ENSEMBL:ENSP00000449999.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86U10-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "60 kDa lysophospholipase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86U10-1", "PR:Q86U10-1", "ENSEMBL:ENSP00000450040", "ENSEMBL:ENSP00000450040.1"], "information_content": 100.0}
{"id": "UniProtKB:O95294-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RasGAP-activating-like protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O95294-3", "PR:O95294-3", "ENSEMBL:ENSP00000450244", "ENSEMBL:ENSP00000450244.1"], "information_content": 100.0}
{"id": "NCBIGene:53831", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR84", "equivalent_identifiers": ["NCBIGene:53831", "ENSEMBL:ENSG00000139572", "HGNC:4535", "OMIM:606383", "UMLS:C1415265", "UniProtKB:Q9NQS5", "PR:Q9NQS5", "ENSEMBL:ENSP00000267015", "ENSEMBL:ENSP00000267015.3", "ENSEMBL:ENSP00000450310", "ENSEMBL:ENSP00000450310.1", "UMLS:C0968164", "MESH:C431700"], "information_content": 90.9}
{"id": "UniProtKB:O75334-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "liprin-alpha-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75334-1", "PR:O75334-1", "ENSEMBL:ENSP00000450337", "ENSEMBL:ENSP00000450337.1"], "information_content": 100.0}
{"id": "NCBIGene:140465", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYL6B", "equivalent_identifiers": ["NCBIGene:140465", "ENSEMBL:ENSG00000196465", "HGNC:29823", "OMIM:609930", "UMLS:C1826331", "UniProtKB:P14649", "PR:P14649", "ENSEMBL:ENSP00000446643", "ENSEMBL:ENSP00000446643.1", "ENSEMBL:ENSP00000450385", "ENSEMBL:ENSP00000450385.1", "ENSEMBL:ENSP00000512320", "ENSEMBL:ENSP00000512320.1"], "information_content": 92.8}
{"id": "UniProtKB:Q02252-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q02252-1", "PR:Q02252-1", "ENSEMBL:ENSP00000450436", "ENSEMBL:ENSP00000450436.1"], "information_content": 100.0}
{"id": "NCBIGene:399671", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HEATR4", "equivalent_identifiers": ["NCBIGene:399671", "ENSEMBL:ENSG00000187105", "HGNC:16761", "UMLS:C1825456", "UniProtKB:Q86WZ0", "PR:Q86WZ0", "ENSEMBL:ENSP00000335447", "ENSEMBL:ENSP00000335447.2", "ENSEMBL:ENSP00000450444", "ENSEMBL:ENSP00000450444.2"], "information_content": 100.0}
{"id": "MONDO:0002624", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "bone leiomyosarcoma", "equivalent_identifiers": ["MONDO:0002624", "DOID:3367", "UMLS:C1332579", "NCIT:C7154", "medgen:234043"], "information_content": 100.0}
{"id": "NCBIGene:84839", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAX2", "equivalent_identifiers": ["NCBIGene:84839", "ENSEMBL:ENSG00000173976", "HGNC:18286", "OMIM:610362", "UMLS:C1826771", "UniProtKB:Q96IS3", "PR:Q96IS3", "ENSEMBL:ENSP00000450456", "ENSEMBL:ENSP00000450456.3", "ENSEMBL:ENSP00000450687", "ENSEMBL:ENSP00000450687.2"], "information_content": 100.0}
{"id": "UniProtKB:O60312-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid-transporting ATPase VA isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60312-1", "PR:O60312-1", "ENSEMBL:ENSP00000349325", "ENSEMBL:ENSP00000349325.6", "ENSEMBL:ENSP00000450480", "ENSEMBL:ENSP00000450480.2"], "information_content": 100.0}
{"id": "UniProtKB:P30411-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B2 bradykinin receptor isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P30411-1", "PR:P30411-1", "ENSEMBL:ENSP00000450482", "ENSEMBL:ENSP00000450482.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BPY8-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeodomain-only protein isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9BPY8-4", "PR:Q9BPY8-4", "ENSEMBL:ENSP00000450527", "ENSEMBL:ENSP00000450527.1"], "information_content": 100.0}
{"id": "UniProtKB:P01011-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-1-antichymotrypsin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P01011-1", "PR:P01011-1", "ENSEMBL:ENSP00000376793", "ENSEMBL:ENSP00000376793.3", "ENSEMBL:ENSP00000376795", "ENSEMBL:ENSP00000376795.4", "ENSEMBL:ENSP00000450540", "ENSEMBL:ENSP00000450540.1"], "information_content": 90.9}
{"id": "MONDO:0011412", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial encephalopathy with neuroserpin inclusion bodies", "equivalent_identifiers": ["MONDO:0011412", "DOID:0050831", "OMIM:604218", "orphanet:85110", "UMLS:C1858680", "MESH:C536841", "SNOMEDCT:702421006", "medgen:346965", "icd11.foundation:453919434"], "information_content": 100.0}
{"id": "UniProtKB:A0A8J9AZZ3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A8J9AZZ3_HUMAN Interleukin-11 receptor subunit alpha (trembl)", "equivalent_identifiers": ["UniProtKB:A0A8J9AZZ3", "ENSEMBL:ENSP00000450565", "ENSEMBL:ENSP00000450565.2"]}
{"id": "UniProtKB:Q9Y6S9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal protein S6 kinase-like 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6S9-1", "PR:Q9Y6S9-1", "ENSEMBL:ENSP00000346644", "ENSEMBL:ENSP00000346644.3", "ENSEMBL:ENSP00000450567", "ENSEMBL:ENSP00000450567.1", "ENSEMBL:ENSP00000452027", "ENSEMBL:ENSP00000452027.1"], "information_content": 100.0}
{"id": "NCBIGene:144363", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ETFRF1", "equivalent_identifiers": ["NCBIGene:144363", "ENSEMBL:ENSG00000205707", "HGNC:27052", "UMLS:C4320284", "UniProtKB:Q6IPR1", "PR:Q6IPR1", "ENSEMBL:ENSP00000370761", "ENSEMBL:ENSP00000370761.4", "ENSEMBL:ENSP00000450443", "ENSEMBL:ENSP00000450443.2", "ENSEMBL:ENSP00000450584", "ENSEMBL:ENSP00000450584.2", "ENSEMBL:ENSP00000452146", "ENSEMBL:ENSP00000452146.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNS1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein timeless homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNS1-1", "PR:Q9UNS1-1", "ENSEMBL:ENSP00000450607", "ENSEMBL:ENSP00000450607.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UEU0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vesicle transport through interaction with t-SNAREs homolog 1B isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9UEU0-1", "PR:Q9UEU0-1", "ENSEMBL:ENSP00000450731", "ENSEMBL:ENSP00000450731.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HBF4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger FYVE domain-containing protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBF4-1", "PR:Q9HBF4-1", "ENSEMBL:ENSP00000450742", "ENSEMBL:ENSP00000450742.1"], "information_content": 100.0}
{"id": "NCBIGene:23351", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KHNYN", "equivalent_identifiers": ["NCBIGene:23351", "ENSEMBL:ENSG00000100441", "HGNC:20166", "OMIM:619579", "UMLS:C2829598", "UniProtKB:A8K6L5", "UMLS:C5391410", "MESH:C000657391", "UniProtKB:O15037", "PR:O15037", "ENSEMBL:ENSP00000251343", "ENSEMBL:ENSP00000251343.5", "ENSEMBL:ENSP00000450799", "ENSEMBL:ENSP00000450799.1", "ENSEMBL:ENSP00000451106", "ENSEMBL:ENSP00000451106.1"], "information_content": 100.0}
{"id": "UniProtKB:O43166-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal-induced proliferation-associated 1-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43166-1", "PR:O43166-1", "ENSEMBL:ENSP00000450832", "ENSEMBL:ENSP00000450832.1"], "information_content": 100.0}
{"id": "NCBIGene:161291", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM30B", "equivalent_identifiers": ["NCBIGene:161291", "ENSEMBL:ENSG00000182107", "HGNC:27254", "OMIM:611029", "UMLS:C1540000", "UniProtKB:Q3MIR4", "PR:Q3MIR4", "ENSEMBL:ENSP00000450842", "ENSEMBL:ENSP00000450842.1", "UMLS:C2351820", "MESH:C526979"], "information_content": 100.0}
{"id": "UniProtKB:Q8WXE9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "stonin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WXE9-3", "PR:Q8WXE9-3", "ENSEMBL:ENSP00000450857", "ENSEMBL:ENSP00000450857.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6IN85-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 4 regulatory subunit 3A isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q6IN85-2", "PR:Q6IN85-2", "ENSEMBL:ENSP00000450864", "ENSEMBL:ENSP00000450864.1"], "information_content": 100.0}
{"id": "NCBIGene:97", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACYP1", "equivalent_identifiers": ["NCBIGene:97", "ENSEMBL:ENSG00000119640", "HGNC:179", "OMIM:600875", "UMLS:C1412175", "UniProtKB:G3V2U7", "ENSEMBL:ENSP00000450873", "ENSEMBL:ENSP00000450873.1", "UMLS:C5772870", "MESH:C000723857", "UniProtKB:P07311", "PR:P07311"]}
{"id": "NCBIGene:100526835", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FPGT-TNNI3K", "equivalent_identifiers": ["NCBIGene:100526835", "ENSEMBL:ENSG00000259030", "HGNC:42952", "UMLS:C3470326", "UniProtKB:V9GXZ4", "ENSEMBL:ENSP00000450895"]}
{"id": "UniProtKB:Q9GZT3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SRA stem-loop-interacting RNA-binding protein, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZT3-1", "PR:Q9GZT3-1", "ENSEMBL:ENSP00000450909", "ENSEMBL:ENSP00000450909.1"], "information_content": 100.0}
{"id": "UniProtKB:Q04743-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein EMX2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q04743-1", "PR:Q04743-1", "ENSEMBL:ENSP00000450962", "ENSEMBL:ENSP00000450962.3"], "information_content": 100.0}
{"id": "NCBIGene:10009", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB33", "equivalent_identifiers": ["NCBIGene:10009", "ENSEMBL:ENSG00000177485", "HGNC:16682", "OMIM:300329", "UMLS:C1538153", "UniProtKB:Q86T24", "PR:Q86T24", "ENSEMBL:ENSP00000314153", "ENSEMBL:ENSP00000314153.2", "ENSEMBL:ENSP00000450969", "ENSEMBL:ENSP00000450969.1", "UMLS:C1436592", "UMLS:C4723825", "MESH:C492254"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y2K1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and BTB domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2K1-1", "PR:Q9Y2K1-1", "ENSEMBL:ENSP00000451000", "ENSEMBL:ENSP00000451000.1", "ENSEMBL:ENSP00000506911", "ENSEMBL:ENSP00000506911.1"], "information_content": 100.0}
{"id": "UniProtKB:P49758-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling 6 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P49758-3", "PR:P49758-3", "ENSEMBL:ENSP00000451030", "ENSEMBL:ENSP00000451030.1", "ENSEMBL:ENSP00000451855", "ENSEMBL:ENSP00000451855.1"], "information_content": 100.0}
{"id": "UniProtKB:P49763-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "placenta growth factor isoform PlGF-2 (human)", "equivalent_identifiers": ["UniProtKB:P49763-3", "PR:P49763-3", "ENSEMBL:ENSP00000451040", "ENSEMBL:ENSP00000451040.1"], "information_content": 100.0}
{"id": "NCBIGene:2079", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERH", "equivalent_identifiers": ["NCBIGene:2079", "ENSEMBL:ENSG00000100632", "HGNC:3447", "OMIM:601191", "UMLS:C1414443", "UniProtKB:P84090", "PR:P84090", "ENSEMBL:ENSP00000451080", "ENSEMBL:ENSP00000451080.1", "UMLS:C1433409", "MESH:C484495"], "information_content": 87.2}
{"id": "DOID:0060512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tomato allergy", "equivalent_identifiers": ["DOID:0060512"]}
{"id": "NCBIGene:22938", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNW1", "equivalent_identifiers": ["NCBIGene:22938", "ENSEMBL:ENSG00000100603", "HGNC:16696", "OMIM:603055", "UMLS:C1366586", "UniProtKB:G3V3A4", "ENSEMBL:ENSP00000451129", "ENSEMBL:ENSP00000451129.1", "UMLS:C1449158", "MESH:C111791", "UniProtKB:Q13573", "PR:Q13573", "ENSEMBL:ENSP00000261531", "ENSEMBL:ENSP00000261531.8", "UMLS:C0755123"]}
{"id": "MONDO:0014048", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cowden syndrome 6", "equivalent_identifiers": ["MONDO:0014048", "DOID:0081002", "OMIM:615109", "UMLS:C3554519", "medgen:767433"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZU80-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein of 128 kDa isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZU80-2", "PR:Q6ZU80-2", "ENSEMBL:ENSP00000281129", "ENSEMBL:ENSP00000281129.3", "ENSEMBL:ENSP00000451162", "ENSEMBL:ENSP00000451162.1"], "information_content": 100.0}
{"id": "MONDO:0008334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psoriasis 1", "equivalent_identifiers": ["MONDO:0008334", "DOID:0111286", "OMIM:177900", "UMLS:C1867449", "medgen:357279"], "information_content": 100.0}
{"id": "NCBIGene:5267", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINA4", "equivalent_identifiers": ["NCBIGene:5267", "ENSEMBL:ENSG00000100665", "HGNC:8948", "OMIM:147935", "UMLS:C1418550", "UniProtKB:A0A024R6I9", "UMLS:C0208500", "UniProtKB:P29622", "PR:P29622", "ENSEMBL:ENSP00000298841", "ENSEMBL:ENSP00000298841.5", "ENSEMBL:ENSP00000450838", "ENSEMBL:ENSP00000450838.1", "ENSEMBL:ENSP00000451172", "ENSEMBL:ENSP00000451172.1"], "information_content": 84.8}
{"id": "NCBIGene:51527", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSKIP", "equivalent_identifiers": ["NCBIGene:51527", "ENSEMBL:ENSG00000100744", "HGNC:20343", "OMIM:616605", "UniProtKB:Q9P0R6", "PR:Q9P0R6", "ENSEMBL:ENSP00000412315", "ENSEMBL:ENSP00000412315.1", "ENSEMBL:ENSP00000450420", "ENSEMBL:ENSP00000450420.1", "ENSEMBL:ENSP00000451188", "ENSEMBL:ENSP00000451188.1", "ENSEMBL:ENSP00000451384", "ENSEMBL:ENSP00000451384.1", "UMLS:C1610788", "UMLS:C1742990", "MESH:C512806", "MESH:C514503"], "information_content": 90.9}
{"id": "NCBIGene:10577", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPC2", "equivalent_identifiers": ["NCBIGene:10577", "ENSEMBL:ENSG00000119655", "HGNC:14537", "OMIM:601015", "UMLS:C1422736", "UniProtKB:A0A024R6C0", "UniProtKB:G3V3E8", "ENSEMBL:ENSP00000451206", "ENSEMBL:ENSP00000451206.1", "UniProtKB:P61916", "PR:P61916", "UMLS:C1176158", "MESH:C104585"]}
{"id": "UniProtKB:Q8NHV4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein NEDD1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHV4-3", "PR:Q8NHV4-3", "ENSEMBL:ENSP00000451211", "ENSEMBL:ENSP00000451211.1"], "information_content": 100.0}
{"id": "NCBIGene:283571", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PROX2", "equivalent_identifiers": ["NCBIGene:283571", "ENSEMBL:ENSG00000119608", "HGNC:26715", "OMIM:615094", "UMLS:C2239845", "UniProtKB:G3V3G0", "ENSEMBL:ENSP00000451223", "ENSEMBL:ENSP00000451223.2", "UniProtKB:Q3B8N5", "PR:Q3B8N5"]}
{"id": "NCBIGene:51465", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2J1", "equivalent_identifiers": ["NCBIGene:51465", "ENSEMBL:ENSG00000198833", "HGNC:17598", "OMIM:616175", "UMLS:C1425009", "UniProtKB:Q9Y385", "PR:Q9Y385", "ENSEMBL:ENSP00000451261", "ENSEMBL:ENSP00000451261.1", "UMLS:C1435045", "MESH:C489967"], "information_content": 88.2}
{"id": "UniProtKB:P80192-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase 9 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P80192-4", "PR:P80192-4", "ENSEMBL:ENSP00000451263", "ENSEMBL:ENSP00000451263.2"], "information_content": 100.0}
{"id": "UniProtKB:P07910-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoproteins C1/C2 isoform hC2 (human)", "equivalent_identifiers": ["UniProtKB:P07910-1", "PR:P07910-1", "ENSEMBL:ENSP00000404848", "ENSEMBL:ENSP00000404848.2", "ENSEMBL:ENSP00000451291", "ENSEMBL:ENSP00000451291.1", "ENSEMBL:ENSP00000452276", "ENSEMBL:ENSP00000452276.1"], "information_content": 100.0}
{"id": "UniProtKB:P49757-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein numb homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49757-1", "PR:P49757-1", "ENSEMBL:ENSP00000347169", "ENSEMBL:ENSP00000347169.3", "ENSEMBL:ENSP00000451300", "ENSEMBL:ENSP00000451300.1"], "information_content": 100.0}
{"id": "NCBIGene:122651", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNASE11", "equivalent_identifiers": ["NCBIGene:122651", "ENSEMBL:ENSG00000173464", "HGNC:19269", "UMLS:C1538851", "UniProtKB:Q5GAN5", "UniProtKB:Q8TAA1", "PR:Q8TAA1", "ENSEMBL:ENSP00000381092", "ENSEMBL:ENSP00000381092.2", "ENSEMBL:ENSP00000381093", "ENSEMBL:ENSP00000381093.2", "ENSEMBL:ENSP00000395210", "ENSEMBL:ENSP00000395210.2", "ENSEMBL:ENSP00000451318", "ENSEMBL:ENSP00000451318.1", "ENSEMBL:ENSP00000451563", "ENSEMBL:ENSP00000451563.1", "ENSEMBL:ENSP00000452412", "ENSEMBL:ENSP00000452412.2"], "information_content": 100.0}
{"id": "NCBIGene:8630", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSD17B6", "equivalent_identifiers": ["NCBIGene:8630", "ENSEMBL:ENSG00000025423", "HGNC:23316", "OMIM:606623", "UMLS:C1537381", "UniProtKB:A0A219K5H4", "UniProtKB:A0A219K684", "UniProtKB:O14756", "PR:O14756", "ENSEMBL:ENSP00000318631", "ENSEMBL:ENSP00000318631.1", "ENSEMBL:ENSP00000450698", "ENSEMBL:ENSP00000450698.1", "ENSEMBL:ENSP00000451406", "ENSEMBL:ENSP00000451406.1", "ENSEMBL:ENSP00000451753", "ENSEMBL:ENSP00000451753.1", "ENSEMBL:ENSP00000452273", "ENSEMBL:ENSP00000452273.1", "UMLS:C0961431", "MESH:C414602"], "information_content": 92.8}
{"id": "UniProtKB:Q92813-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "type II iodothyronine deiodinase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92813-1", "PR:Q92813-1", "ENSEMBL:ENSP00000405854", "ENSEMBL:ENSP00000405854.5", "ENSEMBL:ENSP00000451419", "ENSEMBL:ENSP00000451419.1"], "information_content": 100.0}
{"id": "NCBIGene:8115", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCL1A", "equivalent_identifiers": ["NCBIGene:8115", "ENSEMBL:ENSG00000100721", "HGNC:11648", "OMIM:186960", "UMLS:C1420650", "UniProtKB:P56279", "PR:P56279", "ENSEMBL:ENSP00000385036", "ENSEMBL:ENSP00000385036.1", "ENSEMBL:ENSP00000450496", "ENSEMBL:ENSP00000450496.1", "ENSEMBL:ENSP00000450701", "ENSEMBL:ENSP00000450701.1", "ENSEMBL:ENSP00000451506", "ENSEMBL:ENSP00000451506.1", "UMLS:C0291790", "UMLS:C2985258", "MESH:C090851"], "information_content": 86.3}
{"id": "UniProtKB:Q96Q27-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat and SOCS box protein 2 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q96Q27-2", "PR:Q96Q27-2", "ENSEMBL:ENSP00000451575", "ENSEMBL:ENSP00000451575.1", "ENSEMBL:ENSP00000480388", "ENSEMBL:ENSP00000480388.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99766-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP synthase subunit s, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99766-1", "PR:Q99766-1", "ENSEMBL:ENSP00000308334", "ENSEMBL:ENSP00000308334.8", "ENSEMBL:ENSP00000451583", "ENSEMBL:ENSP00000451583.3", "ENSEMBL:ENSP00000494641", "ENSEMBL:ENSP00000494641.2", "ENSEMBL:ENSP00000506374", "ENSEMBL:ENSP00000506374.1", "ENSEMBL:ENSP00000509859", "ENSEMBL:ENSP00000509859.1"], "information_content": 100.0}
{"id": "NCBIGene:64112", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MOAP1", "equivalent_identifiers": ["NCBIGene:64112", "ENSEMBL:ENSG00000165943", "HGNC:16658", "OMIM:609485", "UMLS:C1424473", "UniProtKB:Q96BY2", "PR:Q96BY2", "ENSEMBL:ENSP00000298894", "ENSEMBL:ENSP00000298894.4", "ENSEMBL:ENSP00000451594", "ENSEMBL:ENSP00000451594.1", "ENSEMBL:ENSP00000482284", "ENSEMBL:ENSP00000482284.1", "ENSEMBL:ENSP00000486260", "ENSEMBL:ENSP00000486260.1", "UMLS:C0966892", "MESH:C428449"], "information_content": 95.4}
{"id": "NCBIGene:4157", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MC1R", "equivalent_identifiers": ["NCBIGene:4157", "ENSEMBL:ENSG00000258839", "HGNC:6929", "OMIM:155555", "UMLS:C1417061", "UniProtKB:Q01726", "PR:Q01726", "ENSEMBL:ENSP00000451605", "ENSEMBL:ENSP00000451605.1", "ENSEMBL:ENSP00000492011", "ENSEMBL:ENSP00000492011.1", "UMLS:C4082292", "UMLS:C5196710", "MESH:C000629922", "UniProtKB:Q1JUL4"], "information_content": 100.0}
{"id": "UniProtKB:Q9UN36-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein NDRG2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UN36-1", "PR:Q9UN36-1", "ENSEMBL:ENSP00000298687", "ENSEMBL:ENSP00000298687.5", "ENSEMBL:ENSP00000380949", "ENSEMBL:ENSP00000380949.2", "ENSEMBL:ENSP00000380951", "ENSEMBL:ENSP00000380951.3", "ENSEMBL:ENSP00000380956", "ENSEMBL:ENSP00000380956.1", "ENSEMBL:ENSP00000451712", "ENSEMBL:ENSP00000451712.1"], "information_content": 100.0}
{"id": "NCBIGene:91750", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIN52", "equivalent_identifiers": ["NCBIGene:91750", "ENSEMBL:ENSG00000205659", "HGNC:19856", "OMIM:621288", "UMLS:C1825820", "UniProtKB:B3KN83", "ENSEMBL:ENSP00000451812", "ENSEMBL:ENSP00000451812.2", "UniProtKB:Q52LA3", "PR:Q52LA3", "UMLS:C5203043"]}
{"id": "UniProtKB:P61011-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal recognition particle subunit SRP54 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61011-1", "PR:P61011-1", "ENSEMBL:ENSP00000216774", "ENSEMBL:ENSP00000216774.6", "ENSEMBL:ENSP00000451818", "ENSEMBL:ENSP00000451818.1", "ENSEMBL:ENSP00000504518", "ENSEMBL:ENSP00000504518.1", "ENSEMBL:ENSP00000504673", "ENSEMBL:ENSP00000504673.1"], "information_content": 100.0}
{"id": "UniProtKB:P31749-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RAC-alpha serine/threonine-protein kinase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P31749-1", "PR:P31749-1", "ENSEMBL:ENSP00000270202", "ENSEMBL:ENSP00000270202.4", "ENSEMBL:ENSP00000384293", "ENSEMBL:ENSP00000384293.2", "ENSEMBL:ENSP00000385326", "ENSEMBL:ENSP00000385326.2", "ENSEMBL:ENSP00000450688", "ENSEMBL:ENSP00000450688.1", "ENSEMBL:ENSP00000451166", "ENSEMBL:ENSP00000451166.1", "ENSEMBL:ENSP00000451828", "ENSEMBL:ENSP00000451828.1", "ENSEMBL:ENSP00000497822", "ENSEMBL:ENSP00000497822.1", "ENSEMBL:ENSP00000507879", "ENSEMBL:ENSP00000507879.1"], "information_content": 92.8}
{"id": "NCBIGene:7517", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "XRCC3", "equivalent_identifiers": ["NCBIGene:7517", "ENSEMBL:ENSG00000126215", "HGNC:12830", "OMIM:600675", "UMLS:C1337032", "UniProtKB:O43542", "PR:O43542", "ENSEMBL:ENSP00000343392", "ENSEMBL:ENSP00000343392.7", "ENSEMBL:ENSP00000451362", "ENSEMBL:ENSP00000451362.1", "ENSEMBL:ENSP00000451974", "ENSEMBL:ENSP00000451974.1", "ENSEMBL:ENSP00000452598", "ENSEMBL:ENSP00000452598.1", "UMLS:C1337025", "UniProtKB:Q53XC8"], "information_content": 90.9}
{"id": "NCBIGene:2954", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSTZ1", "equivalent_identifiers": ["NCBIGene:2954", "ENSEMBL:ENSG00000100577", "HGNC:4643", "OMIM:603758", "UMLS:C1415341", "UniProtKB:A0A0A0MR33", "ENSEMBL:ENSP00000314404", "ENSEMBL:ENSP00000314404.5", "UniProtKB:A0A0C4DFM0", "ENSEMBL:ENSP00000216465", "ENSEMBL:ENSP00000216465.5", "UniProtKB:G3V4T6", "ENSEMBL:ENSP00000451976", "ENSEMBL:ENSP00000451976.1", "UniProtKB:O43708", "PR:O43708", "UMLS:C1449376", "MESH:C407705"]}
{"id": "UniProtKB:Q05BV3-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "echinoderm microtubule-associated protein-like 5 isoform 5 (human)", "equivalent_identifiers": ["UniProtKB:Q05BV3-5", "PR:Q05BV3-5", "ENSEMBL:ENSP00000451998", "ENSEMBL:ENSP00000451998.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86U28-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q86U28-1", "PR:Q86U28-1", "ENSEMBL:ENSP00000452007", "ENSEMBL:ENSP00000452007.1"], "information_content": 100.0}
{"id": "MONDO:0013859", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cataract 38", "equivalent_identifiers": ["MONDO:0013859", "DOID:0110245", "OMIM:614691", "UMLS:C3553494", "medgen:766408"], "information_content": 100.0}
{"id": "UniProtKB:Q4LDG9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal light chain 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q4LDG9-1", "PR:Q4LDG9-1", "ENSEMBL:ENSP00000452037", "ENSEMBL:ENSP00000452037.1"], "information_content": 100.0}
{"id": "NCBIGene:341880", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC35F4", "equivalent_identifiers": ["NCBIGene:341880", "ENSEMBL:ENSG00000151812", "HGNC:19845", "UMLS:C1426472", "UniProtKB:A4IF30", "PR:A4IF30", "UniProtKB:G3V4Z9", "ENSEMBL:ENSP00000452086", "ENSEMBL:ENSP00000452086.1"]}
{"id": "UniProtKB:Q13683-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin alpha-7 isoform alpha-7X1B (human)", "equivalent_identifiers": ["UniProtKB:Q13683-3", "PR:Q13683-3", "ENSEMBL:ENSP00000452120", "ENSEMBL:ENSP00000452120.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13243-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/arginine-rich splicing factor 5 isoform hSRP40-1 (human)", "equivalent_identifiers": ["UniProtKB:Q13243-1", "PR:Q13243-1", "ENSEMBL:ENSP00000377892", "ENSEMBL:ENSP00000377892.2", "ENSEMBL:ENSP00000451088", "ENSEMBL:ENSP00000451088.1", "ENSEMBL:ENSP00000452123", "ENSEMBL:ENSP00000452123.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96B86-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "repulsive guidance molecule A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96B86-4", "PR:Q96B86-4", "ENSEMBL:ENSP00000452126", "ENSEMBL:ENSP00000452126.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H9C1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis-defective protein 39 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H9C1-1", "PR:Q9H9C1-1", "ENSEMBL:ENSP00000339122", "ENSEMBL:ENSP00000339122.2", "ENSEMBL:ENSP00000452181", "ENSEMBL:ENSP00000452181.1", "ENSEMBL:ENSP00000452191", "ENSEMBL:ENSP00000452191.1"], "information_content": 100.0}
{"id": "NCBIGene:283092", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4C13", "equivalent_identifiers": ["NCBIGene:283092", "ENSEMBL:ENSG00000258817", "HGNC:15169", "UMLS:C1423263", "UniProtKB:Q8NGP0", "PR:Q8NGP0", "ENSEMBL:ENSP00000452277", "ENSEMBL:ENSP00000452277.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N8N7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prostaglandin reductase 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N8N7-1", "PR:Q8N8N7-1", "ENSEMBL:ENSP00000267568", "ENSEMBL:ENSP00000267568.4", "ENSEMBL:ENSP00000450975", "ENSEMBL:ENSP00000450975.1", "ENSEMBL:ENSP00000452280", "ENSEMBL:ENSP00000452280.1"], "information_content": 100.0}
{"id": "UniProtKB:H0YJW9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H0YJW9_HUMAN Uncharacterized protein (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:H0YJW9", "ENSEMBL:ENSP00000452347", "ENSEMBL:ENSP00000452347.3"]}
{"id": "NCBIGene:503835", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUXA", "equivalent_identifiers": ["NCBIGene:503835", "ENSEMBL:ENSG00000258873", "HGNC:32179", "OMIM:611168", "UMLS:C1824994", "UniProtKB:A6NLW8", "PR:A6NLW8", "ENSEMBL:ENSP00000452398", "ENSEMBL:ENSP00000452398.1"], "information_content": 100.0}
{"id": "NCBIGene:11099", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTPN21", "equivalent_identifiers": ["NCBIGene:11099", "ENSEMBL:ENSG00000070778", "HGNC:9651", "OMIM:603271", "UMLS:C1419101", "UniProtKB:Q16825", "PR:Q16825", "ENSEMBL:ENSP00000330276", "ENSEMBL:ENSP00000330276.3", "ENSEMBL:ENSP00000452414", "ENSEMBL:ENSP00000452414.1", "UMLS:C1871858", "MESH:C409985"], "information_content": 100.0}
{"id": "UniProtKB:P52655-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription initiation factor IIA subunit 1 isoform h42 kDa (human)", "equivalent_identifiers": ["UniProtKB:P52655-1", "PR:P52655-1", "ENSEMBL:ENSP00000452454", "ENSEMBL:ENSP00000452454.1"], "information_content": 100.0}
{"id": "UniProtKB:Q147X3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-alpha-acetyltransferase 30 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q147X3-1", "PR:Q147X3-1", "ENSEMBL:ENSP00000452521", "ENSEMBL:ENSP00000452521.1"], "information_content": 100.0}
{"id": "NCBIGene:122809", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOCS4", "equivalent_identifiers": ["NCBIGene:122809", "ENSEMBL:ENSG00000180008", "HGNC:19392", "OMIM:616337", "UMLS:C1426213", "UniProtKB:Q8WXH5", "PR:Q8WXH5", "ENSEMBL:ENSP00000341327", "ENSEMBL:ENSP00000341327.2", "ENSEMBL:ENSP00000378855", "ENSEMBL:ENSP00000378855.2", "ENSEMBL:ENSP00000452522", "ENSEMBL:ENSP00000452522.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPU9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Smaug homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPU9-1", "PR:Q9UPU9-1", "ENSEMBL:ENSP00000375919", "ENSEMBL:ENSP00000375919.3", "ENSEMBL:ENSP00000452535", "ENSEMBL:ENSP00000452535.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6Q3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 37 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6Q3-2", "PR:Q9Y6Q3-2", "ENSEMBL:ENSP00000452552", "ENSEMBL:ENSP00000452552.1"], "information_content": 100.0}
{"id": "NCBIGene:7127", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFAIP2", "equivalent_identifiers": ["NCBIGene:7127", "ENSEMBL:ENSG00000185215", "HGNC:11895", "OMIM:603300", "UMLS:C1420798", "UniProtKB:Q03169", "PR:Q03169", "ENSEMBL:ENSP00000332326", "ENSEMBL:ENSP00000332326.1", "ENSEMBL:ENSP00000452634", "ENSEMBL:ENSP00000452634.2", "UMLS:C0251858", "MESH:C085839"], "information_content": 90.9}
{"id": "UniProtKB:P67812-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal peptidase complex catalytic subunit SEC11A isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P67812-3", "PR:P67812-3", "ENSEMBL:ENSP00000452697", "ENSEMBL:ENSP00000452697.1"], "information_content": 100.0}
{"id": "UniProtKB:O43586-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-serine-threonine phosphatase-interacting protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43586-1", "PR:O43586-1", "ENSEMBL:ENSP00000452746", "ENSEMBL:ENSP00000452746.1"], "information_content": 100.0}
{"id": "UniProtKB:P13804-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "electron transfer flavoprotein subunit alpha, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P13804-1", "PR:P13804-1", "ENSEMBL:ENSP00000452762", "ENSEMBL:ENSP00000452762.1", "ENSEMBL:ENSP00000510473", "ENSEMBL:ENSP00000510473.1"], "information_content": 100.0}
{"id": "NCBIGene:6158", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL28", "equivalent_identifiers": ["NCBIGene:6158", "ENSEMBL:ENSG00000108107", "HGNC:10330", "OMIM:603638", "UMLS:C1419654", "UniProtKB:H0YKD8", "ENSEMBL:ENSP00000452763", "ENSEMBL:ENSP00000452763.1", "UniProtKB:P46779", "PR:P46779", "UMLS:C1452421", "MESH:C489320"]}
{"id": "UniProtKB:P05106-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin beta-3 isoform hBeta-3A (human)", "equivalent_identifiers": ["UniProtKB:P05106-1", "PR:P05106-1", "ENSEMBL:ENSP00000452786", "ENSEMBL:ENSP00000452786.2"], "information_content": 100.0}
{"id": "NCBIGene:390637", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GDPGP1", "equivalent_identifiers": ["NCBIGene:390637", "ENSEMBL:ENSG00000183208", "HGNC:34360", "OMIM:619240", "UMLS:C3470342", "UniProtKB:Q6ZNW5", "PR:Q6ZNW5", "ENSEMBL:ENSP00000368405", "ENSEMBL:ENSP00000368405.3", "ENSEMBL:ENSP00000452793", "ENSEMBL:ENSP00000452793.1", "ENSEMBL:ENSP00000453822", "ENSEMBL:ENSP00000453822.2", "ENSEMBL:ENSP00000454128", "ENSEMBL:ENSP00000454128.2", "UMLS:C3178509", "MESH:C560635"], "information_content": 100.0}
{"id": "NCBIGene:79834", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PEAK1", "equivalent_identifiers": ["NCBIGene:79834", "ENSEMBL:ENSG00000173517", "HGNC:29431", "OMIM:614248", "UMLS:C3280264", "UniProtKB:Q9H792", "PR:Q9H792", "ENSEMBL:ENSP00000309230", "ENSEMBL:ENSP00000309230.4", "ENSEMBL:ENSP00000452796", "ENSEMBL:ENSP00000452796.2", "ENSEMBL:ENSP00000507603", "ENSEMBL:ENSP00000507603.1", "UMLS:C3493608", "MESH:C573947"], "information_content": 92.8}
{"id": "UniProtKB:Q04726-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transducin-like enhancer protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q04726-1", "PR:Q04726-1", "ENSEMBL:ENSP00000452871", "ENSEMBL:ENSP00000452871.1"], "information_content": 100.0}
{"id": "NCBIGene:9640", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF592", "equivalent_identifiers": ["NCBIGene:9640", "ENSEMBL:ENSG00000166716", "HGNC:28986", "OMIM:613624", "UMLS:C1428764", "UniProtKB:Q92610", "PR:Q92610", "ENSEMBL:ENSP00000299927", "ENSEMBL:ENSP00000299927.3", "ENSEMBL:ENSP00000452877", "ENSEMBL:ENSP00000452877.2", "UMLS:C2974311", "MESH:C555602"], "information_content": 92.8}
{"id": "UniProtKB:Q8NBR6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase MINDY-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBR6-1", "PR:Q8NBR6-1", "ENSEMBL:ENSP00000452885", "ENSEMBL:ENSP00000452885.1"], "information_content": 100.0}
{"id": "UniProtKB:P49641-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-mannosidase 2x isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P49641-3", "PR:P49641-3", "ENSEMBL:ENSP00000353655", "ENSEMBL:ENSP00000353655.3", "ENSEMBL:ENSP00000452948", "ENSEMBL:ENSP00000452948.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZNA4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase Arkadia isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZNA4-3", "PR:Q6ZNA4-3", "ENSEMBL:ENSP00000453015", "ENSEMBL:ENSP00000453015.1"], "information_content": 100.0}
{"id": "UniProtKB:H0YL38", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H0YL38_HUMAN C2H2-type domain-containing protein (trembl)", "equivalent_identifiers": ["UniProtKB:H0YL38", "ENSEMBL:ENSP00000453045", "ENSEMBL:ENSP00000453045.1"]}
{"id": "UniProtKB:Q02078-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myocyte-specific enhancer factor 2A isoform MEFA (human)", "equivalent_identifiers": ["UniProtKB:Q02078-2", "PR:Q02078-2", "ENSEMBL:ENSP00000453095", "ENSEMBL:ENSP00000453095.1"], "information_content": 100.0}
{"id": "UniProtKB:Q01415-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetylgalactosamine kinase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q01415-1", "PR:Q01415-1", "ENSEMBL:ENSP00000453129", "ENSEMBL:ENSP00000453129.1"], "information_content": 100.0}
{"id": "MONDO:0054852", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peeling skin syndrome 6", "equivalent_identifiers": ["MONDO:0054852", "DOID:0070525", "OMIM:618084", "UMLS:C4748093", "medgen:1648406"], "information_content": 100.0}
{"id": "NCBIGene:414899", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BLID", "equivalent_identifiers": ["NCBIGene:414899", "ENSEMBL:ENSG00000259571", "HGNC:33495", "OMIM:608853", "UMLS:C1837221", "UniProtKB:Q8IZY5", "PR:Q8IZY5", "ENSEMBL:ENSP00000453153", "ENSEMBL:ENSP00000453153.1", "UMLS:C1956289", "MESH:C118024"], "information_content": 100.0}
{"id": "UniProtKB:Q8IUZ0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat-containing protein 49 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IUZ0-2", "PR:Q8IUZ0-2", "ENSEMBL:ENSP00000453273", "ENSEMBL:ENSP00000453273.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99767-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amyloid-beta A4 precursor protein-binding family A member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99767-1", "PR:Q99767-1", "ENSEMBL:ENSP00000453144", "ENSEMBL:ENSP00000453144.1", "ENSEMBL:ENSP00000453293", "ENSEMBL:ENSP00000453293.1", "ENSEMBL:ENSP00000454171", "ENSEMBL:ENSP00000454171.1", "ENSEMBL:ENSP00000480384", "ENSEMBL:ENSP00000480384.1", "ENSEMBL:ENSP00000488107", "ENSEMBL:ENSP00000488107.1", "ENSEMBL:ENSP00000507394", "ENSEMBL:ENSP00000507394.1"], "information_content": 100.0}
{"id": "UniProtKB:P78325-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78325-1", "PR:P78325-1", "ENSEMBL:ENSP00000453302", "ENSEMBL:ENSP00000453302.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99687-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Meis3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99687-2", "PR:Q99687-2", "ENSEMBL:ENSP00000452854", "ENSEMBL:ENSP00000452854.1", "ENSEMBL:ENSP00000453307", "ENSEMBL:ENSP00000453307.1"], "information_content": 100.0}
{"id": "NCBIGene:79134", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM185B", "equivalent_identifiers": ["NCBIGene:79134", "ENSEMBL:ENSG00000226479", "HGNC:18896", "UMLS:C1425864", "UniProtKB:Q9H7F4", "PR:Q9H7F4", "ENSEMBL:ENSP00000453399", "ENSEMBL:ENSP00000453399.1"], "information_content": 100.0}
{"id": "MONDO:0008855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MHC class II deficiency", "equivalent_identifiers": ["MONDO:0008855", "DOID:5812", "OMIM.PS:209920", "orphanet:572", "UMLS:C0242583", "UMLS:C5447452", "MESH:C537079", "NCIT:C176823", "NCIT:C3895", "SNOMEDCT:71904008", "medgen:1781237", "icd11.foundation:2021339495", "ICD10:D81.6"], "information_content": 88.2}
{"id": "NCBIGene:83660", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLN2", "equivalent_identifiers": ["NCBIGene:83660", "ENSEMBL:ENSG00000171914", "HGNC:15447", "OMIM:607349", "UMLS:C1423493", "UniProtKB:Q9Y4G6", "PR:Q9Y4G6", "ENSEMBL:ENSP00000453508", "ENSEMBL:ENSP00000453508.1", "ENSEMBL:ENSP00000490662", "ENSEMBL:ENSP00000490662.2", "UMLS:C1432291", "MESH:C436513"], "information_content": 89.4}
{"id": "NCBIGene:10017", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCL2L10", "equivalent_identifiers": ["NCBIGene:10017", "ENSEMBL:ENSG00000137875", "HGNC:993", "OMIM:606910", "UMLS:C1412762", "UniProtKB:H0YMD5", "ENSEMBL:ENSP00000453562", "ENSEMBL:ENSP00000453562.1", "UniProtKB:Q9HD36", "PR:Q9HD36", "ENSEMBL:ENSP00000260442", "ENSEMBL:ENSP00000260442.3", "UMLS:C1098337"]}
{"id": "NCBIGene:90316", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGIF2LX", "equivalent_identifiers": ["NCBIGene:90316", "ENSEMBL:ENSG00000153779", "HGNC:18570", "OMIM:300411", "UMLS:C1425609", "UniProtKB:Q8IUE1", "PR:Q8IUE1", "ENSEMBL:ENSP00000355119", "ENSEMBL:ENSP00000355119.4", "ENSEMBL:ENSP00000453704", "ENSEMBL:ENSP00000453704.1", "UMLS:C5196499", "MESH:C000629493"], "information_content": 95.4}
{"id": "MONDO:0008786", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyridoxine-responsive sideroblastic anemia", "equivalent_identifiers": ["MONDO:0008786", "DOID:0060066", "OMIM:206000", "UMLS:C0272027", "UMLS:C1859787", "UMLS:C2937227", "MESH:C565954", "SNOMEDCT:191260004", "SNOMEDCT:25443007", "medgen:395346", "HP:0005522"], "information_content": 100.0}
{"id": "NCBIGene:90655", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGIF2LY", "equivalent_identifiers": ["NCBIGene:90655", "ENSEMBL:ENSG00000176679", "HGNC:18569", "OMIM:400025", "UMLS:C1425608", "UniProtKB:Q8IUE0", "PR:Q8IUE0", "ENSEMBL:ENSP00000318502", "ENSEMBL:ENSP00000318502.4", "ENSEMBL:ENSP00000453750", "ENSEMBL:ENSP00000453750.1"], "information_content": 100.0}
{"id": "UniProtKB:O14770-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Meis2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14770-1", "PR:O14770-1", "ENSEMBL:ENSP00000453793", "ENSEMBL:ENSP00000453793.1"], "information_content": 100.0}
{"id": "NCBIGene:80349", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SKIC8", "equivalent_identifiers": ["NCBIGene:80349", "ENSEMBL:ENSG00000140395", "HGNC:30300", "OMIM:609540", "UMLS:C1823825", "UniProtKB:H0YL19", "ENSEMBL:ENSP00000453024", "ENSEMBL:ENSP00000453024.1", "UniProtKB:Q9GZS3", "PR:Q9GZS3", "ENSEMBL:ENSP00000267973", "ENSEMBL:ENSP00000267973.2", "ENSEMBL:ENSP00000453801", "ENSEMBL:ENSP00000453801.1"], "information_content": 90.9}
{"id": "UniProtKB:Q93073-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "selenocysteine insertion sequence-binding protein 2-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q93073-1", "PR:Q93073-1", "ENSEMBL:ENSP00000453854", "ENSEMBL:ENSP00000453854.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQU5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase PAK 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQU5-1", "PR:Q9NQU5-1", "ENSEMBL:ENSP00000260404", "ENSEMBL:ENSP00000260404.4", "ENSEMBL:ENSP00000401153", "ENSEMBL:ENSP00000401153.3", "ENSEMBL:ENSP00000406873", "ENSEMBL:ENSP00000406873.1", "ENSEMBL:ENSP00000439597", "ENSEMBL:ENSP00000439597.2", "ENSEMBL:ENSP00000453858", "ENSEMBL:ENSP00000453858.1", "ENSEMBL:ENSP00000456785", "ENSEMBL:ENSP00000456785.2"], "information_content": 100.0}
{"id": "NCBIGene:729665", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC175", "equivalent_identifiers": ["NCBIGene:729665", "ENSEMBL:ENSG00000151838", "HGNC:19847", "UMLS:C3542304", "UniProtKB:P0C221", "PR:P0C221", "ENSEMBL:ENSP00000453940", "ENSEMBL:ENSP00000453940.1"], "information_content": 100.0}
{"id": "NCBIGene:643382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM253", "equivalent_identifiers": ["NCBIGene:643382", "ENSEMBL:ENSG00000232070", "HGNC:32545", "UMLS:C3540120", "UniProtKB:P0C7T8", "PR:P0C7T8", "ENSEMBL:ENSP00000451229", "ENSEMBL:ENSP00000451229.2", "ENSEMBL:ENSP00000453962", "ENSEMBL:ENSP00000453962.1"], "information_content": 100.0}
{"id": "NCBIGene:390595", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBAP1L", "equivalent_identifiers": ["NCBIGene:390595", "ENSEMBL:ENSG00000246922", "HGNC:40028", "UMLS:C3470206", "UniProtKB:F5GYI3", "PR:F5GYI3", "ENSEMBL:ENSP00000454012", "ENSEMBL:ENSP00000454012.1"], "information_content": 100.0}
{"id": "UniProtKB:B4DS77-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein shisa-9 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:B4DS77-1", "PR:B4DS77-1", "ENSEMBL:ENSP00000454014", "ENSEMBL:ENSP00000454014.2"], "information_content": 100.0}
{"id": "NCBIGene:100527943", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TGIF2-RAB5IF", "equivalent_identifiers": ["NCBIGene:100527943", "ENSEMBL:ENSG00000259399", "HGNC:44664", "UMLS:C4555159", "UniProtKB:A0A0A6YYL0", "ENSEMBL:ENSP00000454021"]}
{"id": "UniProtKB:P54845-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neural retina-specific leucine zipper protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P54845-1", "PR:P54845-1", "ENSEMBL:ENSP00000380193", "ENSEMBL:ENSP00000380193.1", "ENSEMBL:ENSP00000380197", "ENSEMBL:ENSP00000380197.2", "ENSEMBL:ENSP00000454062", "ENSEMBL:ENSP00000454062.2", "ENSEMBL:ENSP00000495627", "ENSEMBL:ENSP00000495627.1", "ENSEMBL:ENSP00000496275", "ENSEMBL:ENSP00000496275.1", "ENSEMBL:ENSP00000496316", "ENSEMBL:ENSP00000496316.1"], "information_content": 100.0}
{"id": "UniProtKB:P01130-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "low-density lipoprotein receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P01130-1", "PR:P01130-1", "ENSEMBL:ENSP00000454071", "ENSEMBL:ENSP00000454071.1"], "information_content": 100.0}
{"id": "UniProtKB:A6NC05-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutaredoxin-like protein C5orf63 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NC05-1", "PR:A6NC05-1", "ENSEMBL:ENSP00000454153", "ENSEMBL:ENSP00000454153.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13286-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "battenin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13286-1", "PR:Q13286-1", "ENSEMBL:ENSP00000353073", "ENSEMBL:ENSP00000353073.9", "ENSEMBL:ENSP00000454229", "ENSEMBL:ENSP00000454229.1", "ENSEMBL:ENSP00000490105", "ENSEMBL:ENSP00000490105.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5A7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NEDD8 ultimate buster 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5A7-1", "PR:Q9Y5A7-1", "ENSEMBL:ENSP00000418234", "ENSEMBL:ENSP00000418234.2", "ENSEMBL:ENSP00000454264", "ENSEMBL:ENSP00000454264.2"], "information_content": 100.0}
{"id": "NCBIGene:100127206", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MINAR2", "equivalent_identifiers": ["NCBIGene:100127206", "ENSEMBL:ENSG00000186367", "HGNC:33914", "OMIM:620215", "UMLS:C4761925", "UniProtKB:P59773", "PR:P59773", "ENSEMBL:ENSP00000454268", "ENSEMBL:ENSP00000454268.1"], "information_content": 100.0}
{"id": "NCBIGene:91056", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AP5B1", "equivalent_identifiers": ["NCBIGene:91056", "ENSEMBL:ENSG00000254470", "HGNC:25104", "OMIM:614367", "UMLS:C3280555", "UniProtKB:Q2VPB7", "PR:Q2VPB7", "ENSEMBL:ENSP00000454303", "ENSEMBL:ENSP00000454303.1", "UMLS:C3490367", "MESH:C570280"], "information_content": 100.0}
{"id": "UniProtKB:H3BMD7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H3BMD7_HUMAN Uncharacterized protein (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:H3BMD7", "ENSEMBL:ENSP00000454340", "ENSEMBL:ENSP00000454340.1", "ENSEMBL:ENSP00000488150", "ENSEMBL:ENSP00000488150.1"]}
{"id": "NCBIGene:10776", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARPP19", "equivalent_identifiers": ["NCBIGene:10776", "ENSEMBL:ENSG00000128989", "HGNC:16967", "OMIM:605487", "UMLS:C1854225", "UniProtKB:H3BMD8", "ENSEMBL:ENSP00000454341", "ENSEMBL:ENSP00000454341.1", "ENSEMBL:ENSP00000454612", "ENSEMBL:ENSP00000454612.1", "UniProtKB:P56211", "PR:P56211"]}
{"id": "NCBIGene:100287482", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMKR1", "equivalent_identifiers": ["NCBIGene:100287482", "ENSEMBL:ENSG00000240204", "HGNC:43561", "UMLS:C3542071", "UniProtKB:H3BMG3", "PR:H3BMG3", "ENSEMBL:ENSP00000454370", "ENSEMBL:ENSP00000454370.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9W4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "golgin subfamily A member 6-like protein 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9W4-3", "PR:Q8N9W4-3", "ENSEMBL:ENSP00000454407", "ENSEMBL:ENSP00000454407.1"], "information_content": 100.0}
{"id": "MONDO:0850332", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "IDH-mutant anaplastic astrocytoma", "equivalent_identifiers": ["MONDO:0850332", "DOID:0080875", "UMLS:C5669733", "NCIT:C185167"], "information_content": 82.6}
{"id": "NCBIGene:340393", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CATSPERQ", "equivalent_identifiers": ["NCBIGene:340393", "ENSEMBL:ENSG00000261587", "HGNC:44155", "UMLS:C3540121", "UniProtKB:Q2WGJ8", "PR:Q2WGJ8", "ENSEMBL:ENSP00000454468", "ENSEMBL:ENSP00000454468.1", "ENSEMBL:ENSP00000494307", "ENSEMBL:ENSP00000494307.1", "ENSEMBL:ENSP00000512438", "ENSEMBL:ENSP00000512438.1"], "information_content": 100.0}
{"id": "MONDO:0005211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian serous adenocarcinoma", "equivalent_identifiers": ["MONDO:0005211", "DOID:0050933", "DOID:5744", "EFO:0002917", "UMLS:C1335177", "NCIT:C7550", "medgen:233278"], "information_content": 76.9}
{"id": "UniProtKB:Q8NDT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative RNA-binding protein 15B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDT2-1", "PR:Q8NDT2-1", "ENSEMBL:ENSP00000454545", "ENSEMBL:ENSP00000454545.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92874-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deoxyribonuclease-1-like 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92874-1", "PR:Q92874-1", "ENSEMBL:ENSP00000316938", "ENSEMBL:ENSP00000316938.5", "ENSEMBL:ENSP00000454562", "ENSEMBL:ENSP00000454562.1", "ENSEMBL:ENSP00000455358", "ENSEMBL:ENSP00000455358.1"], "information_content": 100.0}
{"id": "NCBIGene:3687", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ITGAX", "equivalent_identifiers": ["NCBIGene:3687", "ENSEMBL:ENSG00000140678", "HGNC:6152", "OMIM:151510", "UMLS:C1334145", "UniProtKB:H3BN02", "ENSEMBL:ENSP00000454623", "ENSEMBL:ENSP00000454623.1", "UMLS:C5828814", "MESH:C000727154", "UniProtKB:P20702", "PR:P20702", "ENSEMBL:ENSP00000268296", "ENSEMBL:ENSP00000268296.5", "UMLS:C4082262"]}
{"id": "UniProtKB:Q9NVC3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium-coupled neutral amino acid transporter 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVC3-1", "PR:Q9NVC3-1", "ENSEMBL:ENSP00000219320", "ENSEMBL:ENSP00000219320.3", "ENSEMBL:ENSP00000454646", "ENSEMBL:ENSP00000454646.1"], "information_content": 100.0}
{"id": "MONDO:0006876", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ocular tuberculosis", "equivalent_identifiers": ["MONDO:0006876", "DOID:0070344", "EFO:1001070", "UMLS:C0041322", "MESH:D014392", "MEDDRA:10015970", "MEDDRA:10044819", "MEDDRA:10044826", "SNOMEDCT:49107007", "medgen:52887"], "information_content": 100.0}
{"id": "NCBIGene:434", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASIP", "equivalent_identifiers": ["NCBIGene:434", "ENSEMBL:ENSG00000101440", "HGNC:745", "OMIM:600201", "UMLS:C1412581", "UniProtKB:P42127", "PR:P42127", "ENSEMBL:ENSP00000364092", "ENSEMBL:ENSP00000364092.3", "ENSEMBL:ENSP00000454804", "ENSEMBL:ENSP00000454804.1", "UMLS:C1528298", "MESH:C515182"], "information_content": 100.0}
{"id": "NCBIGene:10607", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBL3", "equivalent_identifiers": ["NCBIGene:10607", "ENSEMBL:ENSG00000183751", "HGNC:11587", "OMIM:605915", "UMLS:C1420601", "UniProtKB:Q12788", "PR:Q12788", "ENSEMBL:ENSP00000454836", "ENSEMBL:ENSP00000454836.1", "ENSEMBL:ENSP00000517587", "ENSEMBL:ENSP00000517587.1"], "information_content": 89.4}
{"id": "MONDO:0012706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial temporal lobe epilepsy 4", "equivalent_identifiers": ["MONDO:0012706", "DOID:0060753", "OMIM:611631", "UMLS:C1968847", "MESH:C566902", "medgen:368897"], "information_content": 100.0}
{"id": "NCBIGene:10073", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNUPN", "equivalent_identifiers": ["NCBIGene:10073", "ENSEMBL:ENSG00000169371", "HGNC:14245", "OMIM:607902", "UMLS:C1823075", "UniProtKB:O95149", "PR:O95149", "ENSEMBL:ENSP00000309831", "ENSEMBL:ENSP00000309831.5", "ENSEMBL:ENSP00000454852", "ENSEMBL:ENSP00000454852.1", "ENSEMBL:ENSP00000456224", "ENSEMBL:ENSP00000456224.1", "ENSEMBL:ENSP00000458053", "ENSEMBL:ENSP00000458053.1", "UMLS:C1431455", "MESH:C114090"], "information_content": 90.9}
{"id": "UniProtKB:Q9ULX5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RING finger protein 112 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULX5-1", "PR:Q9ULX5-1", "ENSEMBL:ENSP00000454919", "ENSEMBL:ENSP00000454919.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHV5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "modulator of smoothened protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHV5-1", "PR:Q8NHV5-1", "ENSEMBL:ENSP00000454926", "ENSEMBL:ENSP00000454926.1"], "information_content": 100.0}
{"id": "NCBIGene:79652", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM204", "equivalent_identifiers": ["NCBIGene:79652", "ENSEMBL:ENSG00000131634", "HGNC:14158", "OMIM:611002", "UMLS:C1422452", "UniProtKB:Q9BSN7", "PR:Q9BSN7", "ENSEMBL:ENSP00000253934", "ENSEMBL:ENSP00000253934.5", "ENSEMBL:ENSP00000454945", "ENSEMBL:ENSP00000454945.1", "UMLS:C1455650", "UMLS:C3538881", "MESH:C488636"], "information_content": 95.4}
{"id": "MONDO:0010461", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Nascimento type", "equivalent_identifiers": ["MONDO:0010461", "DOID:0060820", "OMIM:300860", "orphanet:163956", "UMLS:C3275464", "NCIT:C202069", "medgen:477095"], "information_content": 100.0}
{"id": "MONDO:0010393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 93", "equivalent_identifiers": ["MONDO:0010393", "DOID:0112045", "OMIM:300659", "UMLS:C1970841", "MESH:C567066", "medgen:410164"], "information_content": 100.0}
{"id": "MONDO:0010430", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intellectual disability, X-linked 97", "equivalent_identifiers": ["MONDO:0010430", "DOID:0112046", "OMIM:300803", "UMLS:C2749020", "MESH:C567583", "medgen:440689"], "information_content": 100.0}
{"id": "UniProtKB:Q9BY12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "S phase cyclin A-associated protein in the endoplasmic reticulum isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY12-1", "PR:Q9BY12-1", "ENSEMBL:ENSP00000326924", "ENSEMBL:ENSP00000326924.7", "ENSEMBL:ENSP00000454973", "ENSEMBL:ENSP00000454973.1"], "information_content": 100.0}
{"id": "NCBIGene:113000", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPUSD1", "equivalent_identifiers": ["NCBIGene:113000", "ENSEMBL:ENSG00000007376", "HGNC:14173", "UMLS:C1539697", "UniProtKB:H3BQN8", "ENSEMBL:ENSP00000455862", "ENSEMBL:ENSP00000455862.1", "UniProtKB:H3BUN6", "ENSEMBL:ENSP00000457722", "ENSEMBL:ENSP00000457722.1", "UniProtKB:Q9UJJ7", "PR:Q9UJJ7", "ENSEMBL:ENSP00000007264", "ENSEMBL:ENSP00000007264.2", "ENSEMBL:ENSP00000455026", "ENSEMBL:ENSP00000455026.1"], "information_content": 95.4}
{"id": "NCBIGene:79905", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMC7", "equivalent_identifiers": ["NCBIGene:79905", "ENSEMBL:ENSG00000170537", "HGNC:23000", "OMIM:617198", "UMLS:C1427849", "UniProtKB:H3BNW8", "ENSEMBL:ENSP00000455041", "ENSEMBL:ENSP00000455041.1", "UniProtKB:Q7Z402", "PR:Q7Z402"]}
{"id": "NCBIGene:9057", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC7A6", "equivalent_identifiers": ["NCBIGene:9057", "ENSEMBL:ENSG00000103064", "HGNC:11064", "OMIM:605641", "UMLS:C1420225", "UniProtKB:Q92536", "PR:Q92536", "ENSEMBL:ENSP00000219343", "ENSEMBL:ENSP00000219343.6", "ENSEMBL:ENSP00000455064", "ENSEMBL:ENSP00000455064.1", "UMLS:C1173147", "MESH:C469951"], "information_content": 95.4}
{"id": "NCBIGene:79006", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "METRN", "equivalent_identifiers": ["NCBIGene:79006", "ENSEMBL:ENSG00000103260", "HGNC:14151", "OMIM:610998", "UMLS:C1537685", "UniProtKB:Q9UJH8", "PR:Q9UJH8", "ENSEMBL:ENSP00000455068", "ENSEMBL:ENSP00000455068.1", "UMLS:C1570999", "MESH:C502097"], "information_content": 100.0}
{"id": "NCBIGene:100506581", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C16orf95", "equivalent_identifiers": ["NCBIGene:100506581", "ENSEMBL:ENSG00000260456", "HGNC:40033", "UMLS:C3146781", "UniProtKB:A0A087X224", "ENSEMBL:ENSP00000484646", "ENSEMBL:ENSP00000484646.1", "UniProtKB:H3BNZ7", "ENSEMBL:ENSP00000455079", "ENSEMBL:ENSP00000455079.2", "UniProtKB:Q9H693", "PR:Q9H693", "ENSEMBL:ENSP00000253461", "ENSEMBL:ENSP00000253461.4"]}
{"id": "NCBIGene:643965", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM278", "equivalent_identifiers": ["NCBIGene:643965", "ENSEMBL:ENSG00000205116", "HGNC:37099", "UMLS:C2828871", "UniProtKB:A6NKF7", "PR:A6NKF7", "ENSEMBL:ENSP00000455099", "ENSEMBL:ENSP00000455099.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14137-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosome biogenesis protein BOP1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14137-1", "PR:Q14137-1", "ENSEMBL:ENSP00000455106", "ENSEMBL:ENSP00000455106.1"], "information_content": 100.0}
{"id": "NCBIGene:3073", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HEXA", "equivalent_identifiers": ["NCBIGene:3073", "ENSEMBL:ENSG00000213614", "HGNC:4878", "OMIM:606869", "UMLS:C1415522", "UniProtKB:A0A0S2Z3W3", "UniProtKB:B4DVA7", "UniProtKB:H3BP20", "ENSEMBL:ENSP00000455114", "ENSEMBL:ENSP00000455114.1", "UniProtKB:P06865", "PR:P06865", "UMLS:C1869244", "MESH:C518253"]}
{"id": "UniProtKB:Q8NC67-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuropilin and tolloid-like protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NC67-1", "PR:Q8NC67-1", "ENSEMBL:ENSP00000455169", "ENSEMBL:ENSP00000455169.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y653-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adhesion G-protein coupled receptor G1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y653-1", "PR:Q9Y653-1", "ENSEMBL:ENSP00000454933", "ENSEMBL:ENSP00000454933.2", "ENSEMBL:ENSP00000455215", "ENSEMBL:ENSP00000455215.1", "ENSEMBL:ENSP00000456794", "ENSEMBL:ENSP00000456794.1", "ENSEMBL:ENSP00000500185", "ENSEMBL:ENSP00000500185.2"], "information_content": 100.0}
{"id": "NCBIGene:54920", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUS2", "equivalent_identifiers": ["NCBIGene:54920", "ENSEMBL:ENSG00000167264", "HGNC:26014", "OMIM:609707", "UMLS:C1864745", "UniProtKB:B4DKP8", "UMLS:C2351828", "MESH:C526987", "UniProtKB:E7EUN9", "ENSEMBL:ENSP00000409498", "ENSEMBL:ENSP00000409498.1", "UniProtKB:Q9NX74", "PR:Q9NX74", "ENSEMBL:ENSP00000351769", "ENSEMBL:ENSP00000351769.6", "ENSEMBL:ENSP00000455229", "ENSEMBL:ENSP00000455229.1"], "information_content": 89.4}
{"id": "UniProtKB:Q15572-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TATA box-binding protein-associated factor RNA polymerase I subunit C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15572-1", "PR:Q15572-1", "ENSEMBL:ENSP00000455265", "ENSEMBL:ENSP00000455265.1"], "information_content": 100.0}
{"id": "UniProtKB:H3BPG6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H3BPG6_HUMAN RING-type E3 ubiquitin transferase (trembl)", "equivalent_identifiers": ["UniProtKB:H3BPG6", "ENSEMBL:ENSP00000455308", "ENSEMBL:ENSP00000455308.2"]}
{"id": "NCBIGene:100129480", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MKRN2OS", "equivalent_identifiers": ["NCBIGene:100129480", "ENSEMBL:ENSG00000225526", "HGNC:40375", "UMLS:C3890860", "UniProtKB:H3BPM6", "PR:H3BPM6", "ENSEMBL:ENSP00000455385", "ENSEMBL:ENSP00000455385.3"], "information_content": 100.0}
{"id": "UniProtKB:Q2M1K9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 423 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2M1K9-1", "PR:Q2M1K9-1", "ENSEMBL:ENSP00000455426", "ENSEMBL:ENSP00000455426.1"], "information_content": 100.0}
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{"id": "MONDO:0012525", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Leber congenital amaurosis 12", "equivalent_identifiers": ["MONDO:0012525", "DOID:0110080", "OMIM:610612", "UMLS:C1857743", "MESH:C565697", "medgen:347535"], "information_content": 100.0}
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{"id": "NCBIGene:100126572", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJE1", "equivalent_identifiers": ["NCBIGene:100126572", "ENSEMBL:ENSG00000203733", "HGNC:33251", "UMLS:C1424982", "UniProtKB:A6NN92", "PR:A6NN92", "ENSEMBL:ENSP00000455469", "ENSEMBL:ENSP00000455469.1"], "information_content": 100.0}
{"id": "NCBIGene:84033", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OBSCN", "equivalent_identifiers": ["NCBIGene:84033", "ENSEMBL:ENSG00000154358", "HGNC:15719", "OMIM:608616", "UMLS:C1423682", "UniProtKB:A6NGQ3", "ENSEMBL:ENSP00000455507", "ENSEMBL:ENSP00000455507.2"]}
{"id": "UniProtKB:H3BQ15", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H3BQ15_HUMAN N-acetylglucosamine-6-phosphate deacetylase (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:H3BQ15", "ENSEMBL:ENSP00000455561", "ENSEMBL:ENSP00000455561.1"]}
{"id": "NCBIGene:54753", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF853", "equivalent_identifiers": ["NCBIGene:54753", "ENSEMBL:ENSG00000236609", "HGNC:21767", "UMLS:C2681165", "UniProtKB:P0CG23", "PR:P0CG23", "ENSEMBL:ENSP00000455585", "ENSEMBL:ENSP00000455585.1"], "information_content": 95.4}
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{"id": "UniProtKB:P15735-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P15735-1", "PR:P15735-1", "ENSEMBL:ENSP00000455607", "ENSEMBL:ENSP00000455607.1"], "information_content": 100.0}
{"id": "NCBIGene:100128731", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OST4", "equivalent_identifiers": ["NCBIGene:100128731", "ENSEMBL:ENSG00000228474", "HGNC:32483", "OMIM:618932", "UMLS:C2829972", "UniProtKB:P0C6T2", "PR:P0C6T2", "ENSEMBL:ENSP00000454411", "ENSEMBL:ENSP00000454411.1", "ENSEMBL:ENSP00000455716", "ENSEMBL:ENSP00000455716.1", "ENSEMBL:ENSP00000457935", "ENSEMBL:ENSP00000457935.1"], "information_content": 95.4}
{"id": "NCBIGene:253980", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCTD13", "equivalent_identifiers": ["NCBIGene:253980", "ENSEMBL:ENSG00000174943", "HGNC:22234", "OMIM:608947", "UMLS:C1427765", "UniProtKB:A0A3B3IS45", "ENSEMBL:ENSP00000497126", "ENSEMBL:ENSP00000497126.1", "UniProtKB:Q8WZ19", "PR:Q8WZ19", "ENSEMBL:ENSP00000311202", "ENSEMBL:ENSP00000311202.5", "ENSEMBL:ENSP00000455785", "ENSEMBL:ENSP00000455785.1", "UMLS:C1310275", "MESH:C439978"], "information_content": 95.4}
{"id": "NCBIGene:83657", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYNLRB2", "equivalent_identifiers": ["NCBIGene:83657", "ENSEMBL:ENSG00000168589", "HGNC:15467", "OMIM:607168", "UMLS:C1825017", "UniProtKB:A0A140VJH9", "UMLS:C1120966", "MESH:C449283", "UniProtKB:H3BQI1", "ENSEMBL:ENSP00000455791", "ENSEMBL:ENSP00000455791.1", "UniProtKB:Q8TF09", "PR:Q8TF09", "ENSEMBL:ENSP00000302936", "ENSEMBL:ENSP00000302936.6"]}
{"id": "NCBIGene:101928108", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LY6L", "equivalent_identifiers": ["NCBIGene:101928108", "ENSEMBL:ENSG00000261667", "HGNC:52284", "UMLS:C4085115", "UniProtKB:H3BQJ8", "PR:H3BQJ8", "ENSEMBL:ENSP00000455811", "ENSEMBL:ENSP00000455811.1", "ENSEMBL:ENSP00000487842", "ENSEMBL:ENSP00000487842.1"], "information_content": 100.0}
{"id": "NCBIGene:11269", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX19B", "equivalent_identifiers": ["NCBIGene:11269", "ENSEMBL:ENSG00000157349", "HGNC:2742", "OMIM:605812", "UMLS:C1824903", "UniProtKB:A0A0U4B4U6", "UMLS:C1438450", "MESH:C121148", "UniProtKB:H3BQK0", "ENSEMBL:ENSP00000455813", "ENSEMBL:ENSP00000455813.1", "UniProtKB:Q9UMR2", "PR:Q9UMR2"]}
{"id": "NCBIGene:653075", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOLGA8T", "equivalent_identifiers": ["NCBIGene:653075", "ENSEMBL:ENSG00000261247", "HGNC:44410", "UMLS:C3539380", "UniProtKB:H3BQL2", "PR:H3BQL2", "ENSEMBL:ENSP00000455826", "ENSEMBL:ENSP00000455826.1", "ENSEMBL:ENSP00000492105", "ENSEMBL:ENSP00000492105.1", "ENSEMBL:ENSP00000496287", "ENSEMBL:ENSP00000496287.1"], "information_content": 100.0}
{"id": "NCBIGene:374973", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX38", "equivalent_identifiers": ["NCBIGene:374973", "ENSEMBL:ENSG00000186118", "HGNC:29589", "OMIM:621126", "UMLS:C2681187", "UniProtKB:B7ZLT1", "ENSEMBL:ENSP00000456524", "ENSEMBL:ENSP00000456524.1", "UniProtKB:B7ZLT2", "ENSEMBL:ENSP00000456892", "ENSEMBL:ENSP00000456892.1", "UniProtKB:C9W8M6", "UniProtKB:Q6PEX7", "PR:Q6PEX7", "ENSEMBL:ENSP00000455854", "ENSEMBL:ENSP00000455854.1"], "information_content": 100.0}
{"id": "UniProtKB:P22897-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "macrophage mannose receptor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P22897-1", "PR:P22897-1", "ENSEMBL:ENSP00000455897", "ENSEMBL:ENSP00000455897.1"], "information_content": 100.0}
{"id": "NCBIGene:100507679", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUC22", "equivalent_identifiers": ["NCBIGene:100507679", "ENSEMBL:ENSG00000261272", "HGNC:39755", "OMIM:613917", "UMLS:C3151352", "UniProtKB:E2RYF6", "PR:E2RYF6", "ENSEMBL:ENSP00000455906", "ENSEMBL:ENSP00000455906.1", "UMLS:C4705971", "MESH:C000627544"], "information_content": 95.4}
{"id": "NCBIGene:58472", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SQOR", "equivalent_identifiers": ["NCBIGene:58472", "ENSEMBL:ENSG00000137767", "HGNC:20390", "OMIM:617658", "UMLS:C1426907", "UniProtKB:Q9Y6N5", "PR:Q9Y6N5", "ENSEMBL:ENSP00000260324", "ENSEMBL:ENSP00000260324.7", "ENSEMBL:ENSP00000456019", "ENSEMBL:ENSP00000456019.1", "UMLS:C4743421", "MESH:C000629228"], "information_content": 92.8}
{"id": "NCBIGene:347688", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBB8", "equivalent_identifiers": ["NCBIGene:347688", "ENSEMBL:ENSG00000261456", "HGNC:20773", "OMIM:616768", "UMLS:C3470204", "UniProtKB:Q3ZCM7", "PR:Q3ZCM7", "ENSEMBL:ENSP00000456206", "ENSEMBL:ENSP00000456206.2", "UMLS:C4077012", "MESH:C000604490"], "information_content": 92.8}
{"id": "UniProtKB:Q5JPH6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5JPH6-2", "PR:Q5JPH6-2", "ENSEMBL:ENSP00000456218", "ENSEMBL:ENSP00000456218.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z6L0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich transmembrane protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6L0-2", "PR:Q7Z6L0-2", "ENSEMBL:ENSP00000456226", "ENSEMBL:ENSP00000456226.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6DHV7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N6-Methyl-AMP deaminase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6DHV7-1", "PR:Q6DHV7-1", "ENSEMBL:ENSP00000456242", "ENSEMBL:ENSP00000456242.1"], "information_content": 100.0}
{"id": "MONDO:0014392", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 25", "equivalent_identifiers": ["MONDO:0014392", "DOID:0080453", "OMIM:615905", "UMLS:C4014621", "NCIT:C168597", "medgen:863058"], "information_content": 100.0}
{"id": "UniProtKB:Q7L5Y6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DET1 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7L5Y6-2", "PR:Q7L5Y6-2", "ENSEMBL:ENSP00000408994", "ENSEMBL:ENSP00000408994.1", "ENSEMBL:ENSP00000456340", "ENSEMBL:ENSP00000456340.1"], "information_content": 100.0}
{"id": "UniProtKB:Q2NL67-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein mono-ADP-ribosyltransferase PARP6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2NL67-1", "PR:Q2NL67-1", "ENSEMBL:ENSP00000287196", "ENSEMBL:ENSP00000287196.9", "ENSEMBL:ENSP00000456348", "ENSEMBL:ENSP00000456348.1"], "information_content": 100.0}
{"id": "NCBIGene:653073", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOLGA8J", "equivalent_identifiers": ["NCBIGene:653073", "ENSEMBL:ENSG00000179938", "HGNC:38650", "UMLS:C3147388", "UniProtKB:A6NMD2", "PR:A6NMD2", "ENSEMBL:ENSP00000456401", "ENSEMBL:ENSP00000456401.1", "ENSEMBL:ENSP00000480494", "ENSEMBL:ENSP00000480494.1"], "information_content": 100.0}
{"id": "NCBIGene:1265", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNN2", "equivalent_identifiers": ["NCBIGene:1265", "ENSEMBL:ENSG00000064666", "HGNC:2156", "OMIM:602373", "UMLS:C1413551", "UniProtKB:B4DDF4", "ENSEMBL:ENSP00000457968", "ENSEMBL:ENSP00000457968.1", "UMLS:C4742296", "MESH:C000627967", "UniProtKB:B4DUT8", "ENSEMBL:ENSP00000456436", "ENSEMBL:ENSP00000456436.1", "UniProtKB:Q99439", "PR:Q99439"]}
{"id": "MONDO:0014882", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 77", "equivalent_identifiers": ["MONDO:0014882", "DOID:0110822", "OMIM:617046", "orphanet:466722", "UMLS:C5569007", "SNOMEDCT:1187506008", "medgen:1800430"], "information_content": 100.0}
{"id": "NCBIGene:84529", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDIN1", "equivalent_identifiers": ["NCBIGene:84529", "ENSEMBL:ENSG00000186073", "HGNC:26929", "OMIM:615626", "UMLS:C1824405", "UniProtKB:A0A2R8Y7J6", "ENSEMBL:ENSP00000496325", "ENSEMBL:ENSP00000496325.1", "UniProtKB:A0A2R8YD89", "ENSEMBL:ENSP00000493669", "ENSEMBL:ENSP00000493669.1", "UniProtKB:A0A2R8YEZ2", "ENSEMBL:ENSP00000494718", "ENSEMBL:ENSP00000494718.1", "UniProtKB:H3BS01", "ENSEMBL:ENSP00000456477", "ENSEMBL:ENSP00000456477.1", "UniProtKB:Q9Y2V0", "PR:Q9Y2V0"]}
{"id": "UniProtKB:Q8TEQ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sorting nexin-29 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TEQ0-1", "PR:Q8TEQ0-1", "ENSEMBL:ENSP00000456480", "ENSEMBL:ENSP00000456480.1"], "information_content": 100.0}
{"id": "NCBIGene:84627", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF469", "equivalent_identifiers": ["NCBIGene:84627", "ENSEMBL:ENSG00000225614", "HGNC:23216", "OMIM:612078", "UMLS:C1427995", "UniProtKB:Q96JG9", "PR:Q96JG9", "ENSEMBL:ENSP00000456500", "ENSEMBL:ENSP00000456500.2"], "information_content": 100.0}
{"id": "NCBIGene:392617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELFN1", "equivalent_identifiers": ["NCBIGene:392617", "ENSEMBL:ENSG00000225968", "HGNC:33154", "OMIM:614964", "UMLS:C2239386", "UniProtKB:P0C7U0", "PR:P0C7U0", "ENSEMBL:ENSP00000456548", "ENSEMBL:ENSP00000456548.1", "ENSEMBL:ENSP00000457193", "ENSEMBL:ENSP00000457193.1", "ENSEMBL:ENSP00000510296", "ENSEMBL:ENSP00000510296.1", "UMLS:C4077344", "MESH:C000602318"], "information_content": 95.4}
{"id": "NCBIGene:146310", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF151", "equivalent_identifiers": ["NCBIGene:146310", "ENSEMBL:ENSG00000179580", "HGNC:23235", "UMLS:C1428008", "UniProtKB:H3BNJ8", "ENSEMBL:ENSP00000454886", "ENSEMBL:ENSP00000454886.1", "ENSEMBL:ENSP00000517584", "ENSEMBL:ENSP00000517584.1", "UniProtKB:Q2KHN1", "PR:Q2KHN1", "ENSEMBL:ENSP00000456566", "ENSEMBL:ENSP00000456566.1", "ENSEMBL:ENSP00000517585", "ENSEMBL:ENSP00000517585.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BX79-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor for retinol uptake STRA6 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9BX79-4", "PR:Q9BX79-4", "ENSEMBL:ENSP00000456609", "ENSEMBL:ENSP00000456609.1", "ENSEMBL:ENSP00000499866", "ENSEMBL:ENSP00000499866.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4N3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kelch-like protein 36 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4N3-1", "PR:Q8N4N3-1", "ENSEMBL:ENSP00000456743", "ENSEMBL:ENSP00000456743.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXF8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyltransferase ZDHHC7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXF8-2", "PR:Q9NXF8-2", "ENSEMBL:ENSP00000341681", "ENSEMBL:ENSP00000341681.5", "ENSEMBL:ENSP00000456782", "ENSEMBL:ENSP00000456782.1"], "information_content": 100.0}
{"id": "NCBIGene:100506564", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPMAP2L", "equivalent_identifiers": ["NCBIGene:100506564", "ENSEMBL:ENSG00000249693", "HGNC:43771", "UMLS:C5890575", "UniProtKB:P0DJG4", "PR:P0DJG4", "ENSEMBL:ENSP00000456850", "ENSEMBL:ENSP00000456850.1"], "information_content": 100.0}
{"id": "NCBIGene:26258", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BLOC1S6", "equivalent_identifiers": ["NCBIGene:26258", "ENSEMBL:ENSG00000104164", "HGNC:8549", "OMIM:604310", "UMLS:C1418225", "UniProtKB:B3KY40", "UMLS:C0893625", "MESH:C400284", "UniProtKB:H3BST1", "ENSEMBL:ENSP00000456851", "ENSEMBL:ENSP00000456851.1", "UniProtKB:Q9UL45", "PR:Q9UL45"]}
{"id": "NCBIGene:101060321", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBC1D3G", "equivalent_identifiers": ["NCBIGene:101060321", "ENSEMBL:ENSG00000260287", "HGNC:29860", "OMIM:610810", "UMLS:C1823236", "UniProtKB:Q6DHY5", "PR:Q6DHY5", "ENSEMBL:ENSP00000456861", "ENSEMBL:ENSP00000456861.1", "ENSEMBL:ENSP00000482403", "ENSEMBL:ENSP00000482403.1"], "information_content": 100.0}
{"id": "NCBIGene:728498", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOLGA8H", "equivalent_identifiers": ["NCBIGene:728498", "ENSEMBL:ENSG00000261794", "HGNC:37443", "UMLS:C3147387", "UniProtKB:P0CJ92", "PR:P0CJ92", "ENSEMBL:ENSP00000456894", "ENSEMBL:ENSP00000456894.1"], "information_content": 100.0}
{"id": "NCBIGene:348180", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTU2", "equivalent_identifiers": ["NCBIGene:348180", "ENSEMBL:ENSG00000174177", "HGNC:28005", "OMIM:617057", "UMLS:C2829195", "UniProtKB:H3BSW6", "ENSEMBL:ENSP00000456908", "ENSEMBL:ENSP00000456908.1", "UniProtKB:Q2VPK5", "PR:Q2VPK5"]}
{"id": "NCBIGene:58189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WFDC1", "equivalent_identifiers": ["NCBIGene:58189", "ENSEMBL:ENSG00000103175", "HGNC:15466", "OMIM:605322", "UMLS:C1336986", "UniProtKB:Q9HC57", "PR:Q9HC57", "ENSEMBL:ENSP00000219454", "ENSEMBL:ENSP00000219454.5", "ENSEMBL:ENSP00000456920", "ENSEMBL:ENSP00000456920.1", "UMLS:C1439195", "MESH:C484310"], "information_content": 100.0}
{"id": "NCBIGene:100287399", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POTEB2", "equivalent_identifiers": ["NCBIGene:100287399", "ENSEMBL:ENSG00000230031", "HGNC:48327", "UMLS:C3813012", "UniProtKB:H3BUK9", "PR:H3BUK9", "ENSEMBL:ENSP00000456953", "ENSEMBL:ENSP00000456953.1", "UniProtKB:Q495V5", "ENSEMBL:ENSP00000454944", "ENSEMBL:ENSP00000454944.1", "ENSEMBL:ENSP00000457443", "ENSEMBL:ENSP00000457443.1"], "information_content": 100.0}
{"id": "NCBIGene:283869", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPW", "equivalent_identifiers": ["NCBIGene:283869", "ENSEMBL:ENSG00000183971", "HGNC:30509", "OMIM:607997", "UMLS:C1826469", "UniProtKB:Q8N729", "PR:Q8N729", "ENSEMBL:ENSP00000456974", "ENSEMBL:ENSP00000456974.3", "ENSEMBL:ENSP00000517604", "ENSEMBL:ENSP00000517604.1", "UMLS:C1172012", "MESH:C467731"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBZ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "INO80 complex subunit E isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBZ0-1", "PR:Q8NBZ0-1", "ENSEMBL:ENSP00000457016", "ENSEMBL:ENSP00000457016.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6P2D0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 1 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6P2D0-1", "PR:Q6P2D0-1", "ENSEMBL:ENSP00000377080", "ENSEMBL:ENSP00000377080.2", "ENSEMBL:ENSP00000457044", "ENSEMBL:ENSP00000457044.1"], "information_content": 100.0}
{"id": "UniProtKB:H3BTG2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis-expressed protein 46 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:H3BTG2-1", "PR:H3BTG2-1", "ENSEMBL:ENSP00000457161", "ENSEMBL:ENSP00000457161.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5T011-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KICSTOR complex protein SZT2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q5T011-5", "PR:Q5T011-5", "ENSEMBL:ENSP00000457168", "ENSEMBL:ENSP00000457168.1"], "information_content": 100.0}
{"id": "NCBIGene:145864", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HAPLN3", "equivalent_identifiers": ["NCBIGene:145864", "ENSEMBL:ENSG00000140511", "HGNC:21446", "UMLS:C1427560", "UniProtKB:A8K7T8", "UMLS:C2973397", "MESH:C553469", "UniProtKB:H3BTH8", "ENSEMBL:ENSP00000457180", "ENSEMBL:ENSP00000457180.1", "UniProtKB:Q96S86", "PR:Q96S86", "ENSEMBL:ENSP00000352606", "ENSEMBL:ENSP00000352606.4"]}
{"id": "NCBIGene:388135", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INSYN1", "equivalent_identifiers": ["NCBIGene:388135", "ENSEMBL:ENSG00000205363", "HGNC:33753", "OMIM:617128", "UMLS:C2681289", "UniProtKB:Q2T9L4", "PR:Q2T9L4", "ENSEMBL:ENSP00000457205", "ENSEMBL:ENSP00000457205.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZC7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WW domain-containing oxidoreductase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZC7-1", "PR:Q9NZC7-1", "ENSEMBL:ENSP00000457230", "ENSEMBL:ENSP00000457230.1"], "information_content": 100.0}
{"id": "UniProtKB:O60936-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolar protein 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O60936-2", "PR:O60936-2", "ENSEMBL:ENSP00000457243", "ENSEMBL:ENSP00000457243.2", "ENSEMBL:ENSP00000457720", "ENSEMBL:ENSP00000457720.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9BV97-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 747 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BV97-3", "PR:Q9BV97-3", "ENSEMBL:ENSP00000457274", "ENSEMBL:ENSP00000457274.1"], "information_content": 100.0}
{"id": "UniProtKB:A4GXA9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "probable crossover junction endonuclease EME2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A4GXA9-1", "PR:A4GXA9-1", "ENSEMBL:ENSP00000457353", "ENSEMBL:ENSP00000457353.1"], "information_content": 100.0}
{"id": "NCBIGene:752014", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEMP1", "equivalent_identifiers": ["NCBIGene:752014", "ENSEMBL:ENSG00000205923", "HGNC:32553", "OMIM:611113", "UMLS:C1824698", "UniProtKB:Q6PRD7", "PR:Q6PRD7", "ENSEMBL:ENSP00000457380", "ENSEMBL:ENSP00000457380.1", "UMLS:C1722365", "MESH:C510886"], "information_content": 100.0}
{"id": "NCBIGene:388588", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM1", "equivalent_identifiers": ["NCBIGene:388588", "ENSEMBL:ENSG00000235169", "HGNC:44204", "OMIM:615242", "UMLS:C3543515", "UniProtKB:B2RUZ4", "PR:B2RUZ4", "ENSEMBL:ENSP00000457386", "ENSEMBL:ENSP00000457386.1", "ENSEMBL:ENSP00000496314", "ENSEMBL:ENSP00000496314.2", "UMLS:C3711027", "MESH:C584052", "UniProtKB:M4WDD3"], "information_content": 100.0}
{"id": "UniProtKB:Q14694-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 10 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q14694-3", "PR:Q14694-3", "ENSEMBL:ENSP00000457411", "ENSEMBL:ENSP00000457411.1"], "information_content": 100.0}
{"id": "UniProtKB:P16284-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "platelet endothelial cell adhesion molecule isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P16284-1", "PR:P16284-1", "ENSEMBL:ENSP00000457421", "ENSEMBL:ENSP00000457421.1"], "information_content": 100.0}
{"id": "NCBIGene:124446", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM219", "equivalent_identifiers": ["NCBIGene:124446", "ENSEMBL:ENSG00000149932", "HGNC:25201", "OMIM:620290", "UMLS:C2680484", "UniProtKB:A0A024R618", "UMLS:C4742423", "MESH:C000628132", "UniProtKB:Q86XT9", "PR:Q86XT9", "ENSEMBL:ENSP00000279396", "ENSEMBL:ENSP00000279396.6", "ENSEMBL:ENSP00000388485", "ENSEMBL:ENSP00000388485.2", "ENSEMBL:ENSP00000456960", "ENSEMBL:ENSP00000456960.1", "ENSEMBL:ENSP00000457492", "ENSEMBL:ENSP00000457492.1", "ENSEMBL:ENSP00000459813", "ENSEMBL:ENSP00000459813.2"], "information_content": 90.9}
{"id": "NCBIGene:1327", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX4I1", "equivalent_identifiers": ["NCBIGene:1327", "ENSEMBL:ENSG00000131143", "HGNC:2265", "OMIM:123864", "UMLS:C1413634", "UniProtKB:H3BNV9", "ENSEMBL:ENSP00000455030", "ENSEMBL:ENSP00000455030.1", "UMLS:C4506312", "MESH:C000616975", "UniProtKB:P13073", "PR:P13073", "ENSEMBL:ENSP00000253452", "ENSEMBL:ENSP00000253452.2", "ENSEMBL:ENSP00000457015", "ENSEMBL:ENSP00000457015.1", "ENSEMBL:ENSP00000457513", "ENSEMBL:ENSP00000457513.1", "UniProtKB:Q86WV2", "ENSEMBL:ENSP00000456452", "ENSEMBL:ENSP00000456452.1"], "information_content": 92.8}
{"id": "UniProtKB:Q0VD83-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "apolipoprotein B receptor isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q0VD83-4", "PR:Q0VD83-4", "ENSEMBL:ENSP00000457539", "ENSEMBL:ENSP00000457539.1"], "information_content": 100.0}
{"id": "NCBIGene:79007", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DBNDD1", "equivalent_identifiers": ["NCBIGene:79007", "ENSEMBL:ENSG00000003249", "HGNC:28455", "OMIM:620388", "UMLS:C1824887", "UniProtKB:D3DX86", "ENSEMBL:ENSP00000457625", "ENSEMBL:ENSP00000457625.2", "ENSEMBL:ENSP00000501273", "ENSEMBL:ENSP00000501273.1", "UniProtKB:Q9H9R9", "PR:Q9H9R9"]}
{"id": "UniProtKB:H3BUI4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "H3BUI4_HUMAN Transmembrane protein 170A (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:H3BUI4", "ENSEMBL:ENSP00000457654", "ENSEMBL:ENSP00000457654.1"]}
{"id": "NCBIGene:84993", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBL7", "equivalent_identifiers": ["NCBIGene:84993", "ENSEMBL:ENSG00000138629", "HGNC:28221", "OMIM:609748", "UMLS:C1540150", "UniProtKB:Q96S82", "PR:Q96S82", "ENSEMBL:ENSP00000354883", "ENSEMBL:ENSP00000354883.4", "ENSEMBL:ENSP00000378518", "ENSEMBL:ENSP00000378518.2", "ENSEMBL:ENSP00000454828", "ENSEMBL:ENSP00000454828.1", "ENSEMBL:ENSP00000457703", "ENSEMBL:ENSP00000457703.1", "ENSEMBL:ENSP00000457708", "ENSEMBL:ENSP00000457708.1", "ENSEMBL:ENSP00000500164", "ENSEMBL:ENSP00000500164.1", "ENSEMBL:ENSP00000500266", "ENSEMBL:ENSP00000500266.1", "ENSEMBL:ENSP00000500442", "ENSEMBL:ENSP00000500442.1", "ENSEMBL:ENSP00000500520", "ENSEMBL:ENSP00000500520.1", "ENSEMBL:ENSP00000500882", "ENSEMBL:ENSP00000500882.1", "UMLS:C1433131", "MESH:C479964"], "information_content": 95.4}
{"id": "UniProtKB:Q15287-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein with serine-rich domain 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15287-1", "PR:Q15287-1", "ENSEMBL:ENSP00000301730", "ENSEMBL:ENSP00000301730.8", "ENSEMBL:ENSP00000315859", "ENSEMBL:ENSP00000315859.5", "ENSEMBL:ENSP00000380275", "ENSEMBL:ENSP00000380275.2", "ENSEMBL:ENSP00000457723", "ENSEMBL:ENSP00000457723.1", "ENSEMBL:ENSP00000457820", "ENSEMBL:ENSP00000457820.1"], "information_content": 100.0}
{"id": "NCBIGene:51693", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRAPPC2L", "equivalent_identifiers": ["NCBIGene:51693", "ENSEMBL:ENSG00000167515", "HGNC:30887", "OMIM:610970", "UMLS:C1823481", "UniProtKB:A0A0B4J294", "ENSEMBL:ENSP00000457728", "ENSEMBL:ENSP00000457728.1", "UniProtKB:H3BQQ8", "ENSEMBL:ENSP00000455892", "ENSEMBL:ENSP00000455892.1", "UniProtKB:H3BUK6", "ENSEMBL:ENSP00000457684", "ENSEMBL:ENSP00000457684.1", "UniProtKB:Q9UL33", "PR:Q9UL33"]}
{"id": "UniProtKB:Q6NUK1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial adenyl nucleotide antiporter SLC25A24 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NUK1-1", "PR:Q6NUK1-1", "ENSEMBL:ENSP00000457733", "ENSEMBL:ENSP00000457733.1", "ENSEMBL:ENSP00000491572", "ENSEMBL:ENSP00000491572.1"], "information_content": 100.0}
{"id": "UniProtKB:A5PLK6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of G-protein signaling protein-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A5PLK6-1", "PR:A5PLK6-1", "ENSEMBL:ENSP00000457748", "ENSEMBL:ENSP00000457748.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NTJ4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-mannosidase 2C1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9NTJ4-4", "PR:Q9NTJ4-4", "ENSEMBL:ENSP00000457788", "ENSEMBL:ENSP00000457788.1"], "information_content": 100.0}
{"id": "NCBIGene:100134444", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNJ18", "equivalent_identifiers": ["NCBIGene:100134444", "ENSEMBL:ENSG00000260458", "HGNC:39080", "OMIM:613236", "UMLS:C2750476", "UniProtKB:B7U540", "PR:B7U540", "ENSEMBL:ENSP00000457807", "ENSEMBL:ENSP00000457807.2", "UMLS:C2745345", "MESH:C546860"], "information_content": 100.0}
{"id": "UniProtKB:Q96BT3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centromere protein T isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BT3-1", "PR:Q96BT3-1", "ENSEMBL:ENSP00000400140", "ENSEMBL:ENSP00000400140.2", "ENSEMBL:ENSP00000457810", "ENSEMBL:ENSP00000457810.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BVC4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "target of rapamycin complex subunit LST8 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BVC4-1", "PR:Q9BVC4-1", "ENSEMBL:ENSP00000380313", "ENSEMBL:ENSP00000380313.1", "ENSEMBL:ENSP00000455046", "ENSEMBL:ENSP00000455046.1", "ENSEMBL:ENSP00000456405", "ENSEMBL:ENSP00000456405.1", "ENSEMBL:ENSP00000457870", "ENSEMBL:ENSP00000457870.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZVD8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PH domain leucine-rich repeat-containing protein phosphatase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZVD8-1", "PR:Q6ZVD8-1", "ENSEMBL:ENSP00000457991", "ENSEMBL:ENSP00000457991.1"], "information_content": 100.0}
{"id": "NCBIGene:100527963", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PMF1-BGLAP", "equivalent_identifiers": ["NCBIGene:100527963", "ENSEMBL:ENSG00000260238", "HGNC:42953", "UMLS:C3471411", "UniProtKB:A0A087WT04", "ENSEMBL:ENSP00000458021", "ENSEMBL:ENSP00000458021.2", "UniProtKB:U3KQ54", "ENSEMBL:ENSP00000475561", "ENSEMBL:ENSP00000475561.1"]}
{"id": "UniProtKB:Q9UBX2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "double homeobox protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBX2-1", "PR:Q9UBX2-1", "ENSEMBL:ENSP00000456539", "ENSEMBL:ENSP00000456539.1", "ENSEMBL:ENSP00000458065", "ENSEMBL:ENSP00000458065.1", "ENSEMBL:ENSP00000483555", "ENSEMBL:ENSP00000483555.1", "ENSEMBL:ENSP00000489958", "ENSEMBL:ENSP00000489958.1", "ENSEMBL:ENSP00000518267", "ENSEMBL:ENSP00000518267.1"], "information_content": 100.0}
{"id": "UniProtKB:P0DX53-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000458130", "equivalent_identifiers": ["UniProtKB:P0DX53-1", "ENSEMBL:ENSP00000458130", "ENSEMBL:ENSP00000458130.1", "ENSEMBL:ENSP00000481013", "ENSEMBL:ENSP00000481013.2", "ENSEMBL:ENSP00000482881", "ENSEMBL:ENSP00000482881.1"]}
{"id": "NCBIGene:71", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTG1", "equivalent_identifiers": ["NCBIGene:71", "ENSEMBL:ENSG00000184009", "HGNC:144", "OMIM:102560", "UMLS:C1412149", "UniProtKB:P63261", "PR:P63261", "ENSEMBL:ENSP00000458162", "ENSEMBL:ENSP00000458162.1", "ENSEMBL:ENSP00000458435", "ENSEMBL:ENSP00000458435.1", "ENSEMBL:ENSP00000459119", "ENSEMBL:ENSP00000459119.2", "ENSEMBL:ENSP00000459124", "ENSEMBL:ENSP00000459124.1", "ENSEMBL:ENSP00000460464", "ENSEMBL:ENSP00000460464.2", "ENSEMBL:ENSP00000460660", "ENSEMBL:ENSP00000460660.2", "ENSEMBL:ENSP00000461672", "ENSEMBL:ENSP00000461672.1", "ENSEMBL:ENSP00000466346", "ENSEMBL:ENSP00000466346.2", "ENSEMBL:ENSP00000477968", "ENSEMBL:ENSP00000477968.1", "ENSEMBL:ENSP00000505060", "ENSEMBL:ENSP00000505060.1", "ENSEMBL:ENSP00000505193", "ENSEMBL:ENSP00000505193.1", "ENSEMBL:ENSP00000505235", "ENSEMBL:ENSP00000505235.1", "ENSEMBL:ENSP00000506126", "ENSEMBL:ENSP00000506126.1", "ENSEMBL:ENSP00000506201", "ENSEMBL:ENSP00000506201.1", "ENSEMBL:ENSP00000506253", "ENSEMBL:ENSP00000506253.1", "ENSEMBL:ENSP00000516869", "ENSEMBL:ENSP00000516869.1", "ENSEMBL:ENSP00000516870", "ENSEMBL:ENSP00000516870.1", "ENSEMBL:ENSP00000516871", "ENSEMBL:ENSP00000516871.1", "ENSEMBL:ENSP00000516872", "ENSEMBL:ENSP00000516872.1", "ENSEMBL:ENSP00000516873", "ENSEMBL:ENSP00000516873.1", "ENSEMBL:ENSP00000516874", "ENSEMBL:ENSP00000516874.1", "ENSEMBL:ENSP00000516875", "ENSEMBL:ENSP00000516875.1", "ENSEMBL:ENSP00000516876", "ENSEMBL:ENSP00000516876.1", "ENSEMBL:ENSP00000516877", "ENSEMBL:ENSP00000516877.1", "ENSEMBL:ENSP00000516879", "ENSEMBL:ENSP00000516879.1", "ENSEMBL:ENSP00000516881", "ENSEMBL:ENSP00000516881.1", "ENSEMBL:ENSP00000516882", "ENSEMBL:ENSP00000516882.1", "ENSEMBL:ENSP00000516884", "ENSEMBL:ENSP00000516884.1", "ENSEMBL:ENSP00000516886", "ENSEMBL:ENSP00000516886.1", "ENSEMBL:ENSP00000516887", "ENSEMBL:ENSP00000516887.1", "UMLS:C3884655", "MESH:C000594243"], "information_content": 87.2}
{"id": "NCBIGene:64863", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "METTL4", "equivalent_identifiers": ["NCBIGene:64863", "ENSEMBL:ENSG00000101574", "HGNC:24726", "OMIM:619626", "UMLS:C1428406", "UniProtKB:J3KNJ7", "ENSEMBL:ENSP00000320349", "ENSEMBL:ENSP00000320349.6", "UMLS:C3849507", "MESH:C586526", "UniProtKB:Q8N3J2", "PR:Q8N3J2", "ENSEMBL:ENSP00000458290", "ENSEMBL:ENSP00000458290.1"], "information_content": 100.0}
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{"id": "NCBIGene:147646", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C19orf84", "equivalent_identifiers": ["NCBIGene:147646", "ENSEMBL:ENSG00000262874", "HGNC:27112", "UMLS:C3811546", "UniProtKB:I3L1E1", "PR:I3L1E1", "ENSEMBL:ENSP00000458772", "ENSEMBL:ENSP00000458772.1"], "information_content": 100.0}
{"id": "NCBIGene:124274", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR139", "equivalent_identifiers": ["NCBIGene:124274", "ENSEMBL:ENSG00000180269", "HGNC:19995", "OMIM:618448", "UMLS:C1539604", "UniProtKB:A0A142CHG1", "UMLS:C1570378", "MESH:C501535", "UniProtKB:Q6DWJ6", "PR:Q6DWJ6", "ENSEMBL:ENSP00000458791", "ENSEMBL:ENSP00000458791.2"], "information_content": 100.0}
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{"id": "NCBIGene:23277", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLUH", "equivalent_identifiers": ["NCBIGene:23277", "ENSEMBL:ENSG00000132361", "HGNC:29094", "OMIM:616184", "UMLS:C1825669", "UniProtKB:A0A494C0R8", "ENSEMBL:ENSP00000498679", "ENSEMBL:ENSP00000498679.1", "UniProtKB:O75153", "PR:O75153", "ENSEMBL:ENSP00000388872", "ENSEMBL:ENSP00000388872.1", "ENSEMBL:ENSP00000458986", "ENSEMBL:ENSP00000458986.1", "UMLS:C4705210", "MESH:C000626508"], "information_content": 88.2}
{"id": "NCBIGene:57048", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLSCR3", "equivalent_identifiers": ["NCBIGene:57048", "ENSEMBL:ENSG00000187838", "HGNC:16495", "OMIM:607611", "UMLS:C1424327", "UniProtKB:Q9NRY6", "PR:Q9NRY6", "ENSEMBL:ENSP00000316021", "ENSEMBL:ENSP00000316021.11", "ENSEMBL:ENSP00000459019", "ENSEMBL:ENSP00000459019.1", "ENSEMBL:ENSP00000459419", "ENSEMBL:ENSP00000459419.1", "ENSEMBL:ENSP00000483743", "ENSEMBL:ENSP00000483743.2", "ENSEMBL:ENSP00000491350", "ENSEMBL:ENSP00000491350.1", "ENSEMBL:ENSP00000491393", "ENSEMBL:ENSP00000491393.1", "ENSEMBL:ENSP00000492026", "ENSEMBL:ENSP00000492026.2", "ENSEMBL:ENSP00000492083", "ENSEMBL:ENSP00000492083.1", "UMLS:C1529234", "MESH:C493424"], "information_content": 100.0}
{"id": "NCBIGene:8386", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR1D5", "equivalent_identifiers": ["NCBIGene:8386", "ENSEMBL:ENSG00000262628", "HGNC:8186", "UMLS:C1417991", "UniProtKB:A0A126GVQ6", "UniProtKB:P58170", "PR:P58170", "ENSEMBL:ENSP00000459028", "ENSEMBL:ENSP00000459028.1"], "information_content": 100.0}
{"id": "UniProtKB:A1A5D9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BICD family-like cargo adapter 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A1A5D9-1", "PR:A1A5D9-1", "ENSEMBL:ENSP00000373998", "ENSEMBL:ENSP00000373998.4", "ENSEMBL:ENSP00000459043", "ENSEMBL:ENSP00000459043.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99732-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99732-1", "PR:Q99732-1", "ENSEMBL:ENSP00000340118", "ENSEMBL:ENSP00000340118.5", "ENSEMBL:ENSP00000459138", "ENSEMBL:ENSP00000459138.1", "ENSEMBL:ENSP00000459533", "ENSEMBL:ENSP00000459533.1", "ENSEMBL:ENSP00000461667", "ENSEMBL:ENSP00000461667.1", "ENSEMBL:ENSP00000461813", "ENSEMBL:ENSP00000461813.1", "ENSEMBL:ENSP00000483114", "ENSEMBL:ENSP00000483114.1"], "information_content": 100.0}
{"id": "NCBIGene:474170", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC37A2", "equivalent_identifiers": ["NCBIGene:474170", "ENSEMBL:ENSG00000238083", "HGNC:32404", "OMIM:616556", "UMLS:C1825883", "UniProtKB:A6NM11", "PR:A6NM11", "ENSEMBL:ENSP00000459551", "ENSEMBL:ENSP00000459551.1", "UniProtKB:Q5YKG5"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHS9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis-associated protein 22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHS9-1", "PR:Q8NHS9-1", "ENSEMBL:ENSP00000380354", "ENSEMBL:ENSP00000380354.3", "ENSEMBL:ENSP00000459329", "ENSEMBL:ENSP00000459329.1", "ENSEMBL:ENSP00000459580", "ENSEMBL:ENSP00000459580.1", "ENSEMBL:ENSP00000460187", "ENSEMBL:ENSP00000460187.1"], "information_content": 100.0}
{"id": "NCBIGene:23380", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRGAP2", "equivalent_identifiers": ["NCBIGene:23380", "ENSEMBL:ENSG00000266028", "HGNC:19751", "OMIM:606524", "UMLS:C1426380", "UniProtKB:A0A075B7B5", "ENSEMBL:ENSP00000473954", "ENSEMBL:ENSP00000473954.1", "UniProtKB:A0A1S5UZH8", "UniProtKB:B4DFE5", "UniProtKB:B7Z3G4", "UniProtKB:B7ZM87", "ENSEMBL:ENSP00000485517", "ENSEMBL:ENSP00000485517.1", "UniProtKB:O75044", "PR:O75044", "ENSEMBL:ENSP00000459615", "ENSEMBL:ENSP00000459615.2", "UMLS:C1454788", "MESH:C501995"], "information_content": 90.9}
{"id": "UniProtKB:Q9ULH7-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myocardin-related transcription factor B isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULH7-5", "PR:Q9ULH7-5", "ENSEMBL:ENSP00000459626", "ENSEMBL:ENSP00000459626.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13470-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "non-receptor tyrosine-protein kinase TNK1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13470-1", "PR:Q13470-1", "ENSEMBL:ENSP00000459799", "ENSEMBL:ENSP00000459799.1", "ENSEMBL:ENSP00000491136", "ENSEMBL:ENSP00000491136.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2R3-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rabankyrin-5 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2R3-4", "PR:Q9P2R3-4", "ENSEMBL:ENSP00000459943", "ENSEMBL:ENSP00000459943.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NER1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transient receptor potential cation channel subfamily V member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NER1-1", "PR:Q8NER1-1", "ENSEMBL:ENSP00000382659", "ENSEMBL:ENSP00000382659.4", "ENSEMBL:ENSP00000382661", "ENSEMBL:ENSP00000382661.3", "ENSEMBL:ENSP00000459962", "ENSEMBL:ENSP00000459962.1", "ENSEMBL:ENSP00000461007", "ENSEMBL:ENSP00000461007.1"], "information_content": 100.0}
{"id": "UniProtKB:P78347-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription factor II-I isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P78347-1", "PR:P78347-1", "ENSEMBL:ENSP00000460070", "ENSEMBL:ENSP00000460070.1"], "information_content": 100.0}
{"id": "NCBIGene:10418", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPON1", "equivalent_identifiers": ["NCBIGene:10418", "ENSEMBL:ENSG00000262655", "HGNC:11252", "OMIM:604989", "UMLS:C1420366", "UniProtKB:Q9HCB6", "PR:Q9HCB6", "ENSEMBL:ENSP00000460236", "ENSEMBL:ENSP00000460236.1", "UMLS:C1448008", "MESH:C429104"], "information_content": 85.5}
{"id": "NCBIGene:10594", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRPF8", "equivalent_identifiers": ["NCBIGene:10594", "ENSEMBL:ENSG00000174231", "HGNC:17340", "OMIM:607300", "UMLS:C1424915", "UniProtKB:Q6P2Q9", "PR:Q6P2Q9", "ENSEMBL:ENSP00000304350", "ENSEMBL:ENSP00000304350.6", "ENSEMBL:ENSP00000460348", "ENSEMBL:ENSP00000460348.1", "ENSEMBL:ENSP00000479194", "ENSEMBL:ENSP00000479194.1", "ENSEMBL:ENSP00000488611", "ENSEMBL:ENSP00000488611.1", "UMLS:C0759376", "MESH:C115374"], "information_content": 80.6}
{"id": "UniProtKB:P35125-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin carboxyl-terminal hydrolase 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35125-1", "PR:P35125-1", "ENSEMBL:ENSP00000250066", "ENSEMBL:ENSP00000250066.6", "ENSEMBL:ENSP00000460380", "ENSEMBL:ENSP00000460380.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9C000-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NACHT, LRR and PYD domains-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C000-1", "PR:Q9C000-1", "ENSEMBL:ENSP00000460475", "ENSEMBL:ENSP00000460475.1", "ENSEMBL:ENSP00000478516", "ENSEMBL:ENSP00000478516.1", "ENSEMBL:ENSP00000514534", "ENSEMBL:ENSP00000514534.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TF47-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 90 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF47-1", "PR:Q8TF47-1", "ENSEMBL:ENSP00000381304", "ENSEMBL:ENSP00000381304.2", "ENSEMBL:ENSP00000454418", "ENSEMBL:ENSP00000454418.2", "ENSEMBL:ENSP00000460547", "ENSEMBL:ENSP00000460547.1"], "information_content": 100.0}
{"id": "NCBIGene:100288413", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERVMER34-1", "equivalent_identifiers": ["NCBIGene:100288413", "ENSEMBL:ENSG00000226887", "HGNC:42970", "UMLS:C3470158", "UniProtKB:Q9H9K5", "PR:Q9H9K5", "ENSEMBL:ENSP00000460255", "ENSEMBL:ENSP00000460255.1", "ENSEMBL:ENSP00000460602", "ENSEMBL:ENSP00000460602.1"], "information_content": 100.0}
{"id": "NCBIGene:643669", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCER2", "equivalent_identifiers": ["NCBIGene:643669", "ENSEMBL:ENSG00000262484", "HGNC:44662", "OMIM:617634", "UMLS:C3813056", "UniProtKB:I3L3R5", "PR:I3L3R5", "ENSEMBL:ENSP00000460665", "ENSEMBL:ENSP00000460665.1", "ENSEMBL:ENSP00000488939", "ENSEMBL:ENSP00000488939.1"], "information_content": 95.4}
{"id": "MONDO:0033202", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hearing loss, autosomal recessive 109", "equivalent_identifiers": ["MONDO:0033202", "DOID:0111639", "OMIM:618013", "UMLS:C4693935", "medgen:1633308"], "information_content": 100.0}
{"id": "MONDO:0013985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 18B", "equivalent_identifiers": ["MONDO:0013985", "DOID:0110474", "OMIM:614945", "UMLS:C3554163", "medgen:767077"], "information_content": 100.0}
{"id": "NCBIGene:23399", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTDNEP1", "equivalent_identifiers": ["NCBIGene:23399", "ENSEMBL:ENSG00000175826", "HGNC:19085", "OMIM:610684", "UMLS:C1426001", "UniProtKB:O95476", "PR:O95476", "ENSEMBL:ENSP00000321732", "ENSEMBL:ENSP00000321732.6", "ENSEMBL:ENSP00000458758", "ENSEMBL:ENSP00000458758.1", "ENSEMBL:ENSP00000460683", "ENSEMBL:ENSP00000460683.1", "ENSEMBL:ENSP00000461749", "ENSEMBL:ENSP00000461749.1", "UMLS:C1432965", "MESH:C499225"], "information_content": 95.4}
{"id": "UniProtKB:O75674-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TOM1-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75674-1", "PR:O75674-1", "ENSEMBL:ENSP00000460823", "ENSEMBL:ENSP00000460823.1"], "information_content": 100.0}
{"id": "UniProtKB:O76021-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal L1 domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O76021-1", "PR:O76021-1", "ENSEMBL:ENSP00000460871", "ENSEMBL:ENSP00000460871.1"], "information_content": 100.0}
{"id": "NCBIGene:100529144", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CORO7-PAM16", "equivalent_identifiers": ["NCBIGene:100529144", "ENSEMBL:ENSG00000103426", "HGNC:44424", "UMLS:C3539420", "UniProtKB:A0A0A6YYL4", "ENSEMBL:ENSP00000460885", "ENSEMBL:ENSP00000480927"]}
{"id": "NCBIGene:64756", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATPAF1", "equivalent_identifiers": ["NCBIGene:64756", "ENSEMBL:ENSG00000123472", "HGNC:18803", "OMIM:608917", "UMLS:C1425787", "UniProtKB:A8MRA7", "ENSEMBL:ENSP00000330685", "ENSEMBL:ENSP00000330685.4", "UMLS:C1313476", "MESH:C498318", "UniProtKB:I3L448", "ENSEMBL:ENSP00000460964", "ENSEMBL:ENSP00000460964.1", "UniProtKB:Q5TC12", "PR:Q5TC12"]}
{"id": "MONDO:0015762", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive familial intrahepatic cholestasis", "equivalent_identifiers": ["MONDO:0015762", "DOID:0070221", "OMIM.PS:211600", "orphanet:172", "UMLS:C0268312", "MEDDRA:10076033", "NCIT:C84453", "medgen:75668", "icd11.foundation:1457142642"], "information_content": 81.3}
{"id": "UniProtKB:Q05996-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zona pellucida sperm-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q05996-1", "PR:Q05996-1", "ENSEMBL:ENSP00000458991", "ENSEMBL:ENSP00000458991.2", "ENSEMBL:ENSP00000460971", "ENSEMBL:ENSP00000460971.1", "ENSEMBL:ENSP00000492703", "ENSEMBL:ENSP00000492703.1"], "information_content": 100.0}
{"id": "NCBIGene:84622", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF594", "equivalent_identifiers": ["NCBIGene:84622", "ENSEMBL:ENSG00000180626", "HGNC:29392", "UMLS:C1428851", "UniProtKB:Q6ZNC6", "UniProtKB:Q96JF6", "PR:Q96JF6", "ENSEMBL:ENSP00000382513", "ENSEMBL:ENSP00000382513.4", "ENSEMBL:ENSP00000461032", "ENSEMBL:ENSP00000461032.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWF3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SLP adapter and CSK-interacting membrane protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWF3-1", "PR:Q6UWF3-1", "ENSEMBL:ENSP00000461269", "ENSEMBL:ENSP00000461269.1"], "information_content": 100.0}
{"id": "UniProtKB:B4DLN1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B4DLN1_HUMAN Mitochondrial dicarboxylate carrier (trembl)", "equivalent_identifiers": ["UniProtKB:B4DLN1", "ENSEMBL:ENSP00000461324", "ENSEMBL:ENSP00000461324.1"]}
{"id": "UniProtKB:Q8N370-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large neutral amino acids transporter small subunit 4 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8N370-3", "PR:Q8N370-3", "ENSEMBL:ENSP00000461382", "ENSEMBL:ENSP00000461382.1", "ENSEMBL:ENSP00000483848", "ENSEMBL:ENSP00000483848.2", "ENSEMBL:ENSP00000484291", "ENSEMBL:ENSP00000484291.1"], "information_content": 100.0}
{"id": "NCBIGene:124641", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OVCA2", "equivalent_identifiers": ["NCBIGene:124641", "ENSEMBL:ENSG00000262664", "HGNC:24203", "OMIM:607896", "UMLS:C1842848", "UniProtKB:Q8WZ82", "PR:Q8WZ82", "ENSEMBL:ENSP00000461388", "ENSEMBL:ENSP00000461388.1", "UMLS:C1310497", "MESH:C456119"], "information_content": 100.0}
{"id": "NCBIGene:348262", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MCRIP1", "equivalent_identifiers": ["NCBIGene:348262", "ENSEMBL:ENSG00000225663", "HGNC:28007", "OMIM:616514", "UMLS:C2829375", "UniProtKB:C9JLW8", "PR:C9JLW8", "ENSEMBL:ENSP00000409009", "ENSEMBL:ENSP00000409009.2", "ENSEMBL:ENSP00000445543", "ENSEMBL:ENSP00000445543.1", "ENSEMBL:ENSP00000458707", "ENSEMBL:ENSP00000458707.1", "ENSEMBL:ENSP00000458720", "ENSEMBL:ENSP00000458720.1", "ENSEMBL:ENSP00000499966", "ENSEMBL:ENSP00000499966.1", "ENSEMBL:ENSP00000500382", "ENSEMBL:ENSP00000500382.1", "ENSEMBL:ENSP00000500493", "ENSEMBL:ENSP00000500493.1", "ENSEMBL:ENSP00000500656", "ENSEMBL:ENSP00000500656.1", "UniProtKB:I3L3A7", "ENSEMBL:ENSP00000460299", "ENSEMBL:ENSP00000460299.1", "ENSEMBL:ENSP00000500318", "ENSEMBL:ENSP00000500318.1", "UniProtKB:I3L4Q0", "ENSEMBL:ENSP00000408827", "ENSEMBL:ENSP00000408827.2", "ENSEMBL:ENSP00000460461", "ENSEMBL:ENSP00000460461.1", "ENSEMBL:ENSP00000461433", "ENSEMBL:ENSP00000461433.1", "ENSEMBL:ENSP00000500166", "ENSEMBL:ENSP00000500166.1", "ENSEMBL:ENSP00000500564", "ENSEMBL:ENSP00000500564.1", "ENSEMBL:ENSP00000500711", "ENSEMBL:ENSP00000500711.1"]}
{"id": "NCBIGene:9570", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOSR2", "equivalent_identifiers": ["NCBIGene:9570", "ENSEMBL:ENSG00000108433", "HGNC:4431", "OMIM:604027", "UMLS:C1415180", "UniProtKB:A0A1W2PPP5", "ENSEMBL:ENSP00000491253", "ENSEMBL:ENSP00000491253.1", "UniProtKB:A0A1W2PQ77", "ENSEMBL:ENSP00000491946", "ENSEMBL:ENSP00000491946.1", "UniProtKB:A0A1W2PQE0", "ENSEMBL:ENSP00000377101", "ENSEMBL:ENSP00000377101.3", "ENSEMBL:ENSP00000491682", "ENSEMBL:ENSP00000491682.1", "UMLS:C1452410", "MESH:C491344", "UniProtKB:A0A1W2PQM3", "ENSEMBL:ENSP00000491785", "ENSEMBL:ENSP00000491785.1", "UniProtKB:A0A1W2PR02", "ENSEMBL:ENSP00000491979", "ENSEMBL:ENSP00000491979.1", "UniProtKB:A0A1W2PRC2", "ENSEMBL:ENSP00000492524", "ENSEMBL:ENSP00000492524.1", "UniProtKB:A0A1W2PRL0", "ENSEMBL:ENSP00000491961", "ENSEMBL:ENSP00000491961.1", "ENSEMBL:ENSP00000492548", "ENSEMBL:ENSP00000492548.1", "UniProtKB:I3NI02", "ENSEMBL:ENSP00000461784", "ENSEMBL:ENSP00000461784.2", "UniProtKB:O14653", "PR:O14653"]}
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{"id": "MONDO:0007221", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "brachydactyly type C", "equivalent_identifiers": ["MONDO:0007221", "DOID:0110970", "OMIM:113100", "orphanet:93384", "UMLS:C1300268", "UMLS:C1862103", "MESH:C537093", "SNOMEDCT:389169005", "medgen:350590", "icd11.foundation:956707061", "HP:0009373"], "information_content": 100.0}
{"id": "UniProtKB:Q9UHR5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SAP30-binding protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHR5-1", "PR:Q9UHR5-1", "ENSEMBL:ENSP00000462116", "ENSEMBL:ENSP00000462116.1"], "information_content": 100.0}
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{"id": "NCBIGene:642597", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AKAIN1", "equivalent_identifiers": ["NCBIGene:642597", "ENSEMBL:ENSG00000231824", "HGNC:28285", "OMIM:616427", "UMLS:C3146783", "UniProtKB:J3KS16", "ENSEMBL:ENSP00000462259", "ENSEMBL:ENSP00000462259.1", "UMLS:C4079409", "MESH:C000601234", "UniProtKB:P0CW23", "PR:P0CW23", "ENSEMBL:ENSP00000399075", "ENSEMBL:ENSP00000399075.3"]}
{"id": "UniProtKB:P0DPK4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "notch homolog 2 N-terminal-like protein C isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P0DPK4-2", "PR:P0DPK4-2", "ENSEMBL:ENSP00000462298", "ENSEMBL:ENSP00000462298.1", "ENSEMBL:ENSP00000498514", "ENSEMBL:ENSP00000498514.1"], "information_content": 100.0}
{"id": "NCBIGene:146722", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD300LF", "equivalent_identifiers": ["NCBIGene:146722", "ENSEMBL:ENSG00000186074", "HGNC:29883", "OMIM:609807", "UMLS:C1824680", "UniProtKB:B4DQD2", "UMLS:C1565239", "MESH:C519443", "UniProtKB:J3KS52", "ENSEMBL:ENSP00000462309", "ENSEMBL:ENSP00000462309.1", "UniProtKB:Q8TDQ1", "PR:Q8TDQ1"]}
{"id": "UniProtKB:Q8NFI3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic endo-beta-N-acetylglucosaminidase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFI3-1", "PR:Q8NFI3-1", "ENSEMBL:ENSP00000462333", "ENSEMBL:ENSP00000462333.1"], "information_content": 100.0}
{"id": "NCBIGene:7716", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VEZF1", "equivalent_identifiers": ["NCBIGene:7716", "ENSEMBL:ENSG00000136451", "HGNC:12949", "OMIM:606747", "UMLS:C1823628", "UniProtKB:J3QSH4", "ENSEMBL:ENSP00000464687", "ENSEMBL:ENSP00000464687.1", "UMLS:C1437752", "MESH:C088395", "UniProtKB:Q14119", "PR:Q14119", "ENSEMBL:ENSP00000462337", "ENSEMBL:ENSP00000462337.1"], "information_content": 95.4}
{"id": "NCBIGene:147323", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STARD6", "equivalent_identifiers": ["NCBIGene:147323", "ENSEMBL:ENSG00000174448", "HGNC:18066", "OMIM:607051", "UMLS:C1425277", "UniProtKB:A0A8I5QL07", "ENSEMBL:ENSP00000510350", "ENSEMBL:ENSP00000510350.1", "UniProtKB:P59095", "PR:P59095", "ENSEMBL:ENSP00000310814", "ENSEMBL:ENSP00000310814.3", "ENSEMBL:ENSP00000462349", "ENSEMBL:ENSP00000462349.1", "UMLS:C1136760", "MESH:C456545"], "information_content": 100.0}
{"id": "NCBIGene:51673", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPPP3", "equivalent_identifiers": ["NCBIGene:51673", "ENSEMBL:ENSG00000159713", "HGNC:24162", "OMIM:616957", "UMLS:C2240116", "UniProtKB:Q9BW30", "PR:Q9BW30", "ENSEMBL:ENSP00000290942", "ENSEMBL:ENSP00000290942.5", "ENSEMBL:ENSP00000377529", "ENSEMBL:ENSP00000377529.2", "ENSEMBL:ENSP00000457275", "ENSEMBL:ENSP00000457275.1", "ENSEMBL:ENSP00000462435", "ENSEMBL:ENSP00000462435.1", "UMLS:C5226172", "MESH:C000656218"], "information_content": 95.4}
{"id": "NCBIGene:7525", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YES1", "equivalent_identifiers": ["NCBIGene:7525", "ENSEMBL:ENSG00000176105", "HGNC:12841", "OMIM:164880", "UMLS:C0919479", "UniProtKB:P07947", "PR:P07947", "ENSEMBL:ENSP00000324740", "ENSEMBL:ENSP00000324740.4", "ENSEMBL:ENSP00000462468", "ENSEMBL:ENSP00000462468.1", "UMLS:C1452531", "MESH:C489834"], "information_content": 79.3}
{"id": "UniProtKB:Q9H3M7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thioredoxin-interacting protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3M7-1", "PR:Q9H3M7-1", "ENSEMBL:ENSP00000462521", "ENSEMBL:ENSP00000462521.1"], "information_content": 100.0}
{"id": "NCBIGene:284565", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NBPF15", "equivalent_identifiers": ["NCBIGene:284565", "ENSEMBL:ENSG00000266338", "HGNC:28791", "OMIM:610414", "UMLS:C1826373", "UniProtKB:A0A087WVG8", "ENSEMBL:ENSP00000479429", "ENSEMBL:ENSP00000479429.2", "UniProtKB:B4DRP3", "UMLS:C5391271", "MESH:C000656628", "UniProtKB:Q8N660", "PR:Q8N660", "ENSEMBL:ENSP00000462600", "ENSEMBL:ENSP00000462600.1", "ENSEMBL:ENSP00000463178", "ENSEMBL:ENSP00000463178.1", "ENSEMBL:ENSP00000481835", "ENSEMBL:ENSP00000481835.1"], "information_content": 100.0}
{"id": "NCBIGene:116", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADCYAP1", "equivalent_identifiers": ["NCBIGene:116", "ENSEMBL:ENSG00000141433", "HGNC:241", "OMIM:102980", "UMLS:C1412228", "UniProtKB:B7Z222", "UMLS:C1313296", "MESH:C495401", "UniProtKB:P18509", "PR:P18509", "ENSEMBL:ENSP00000411658", "ENSEMBL:ENSP00000411658.3", "ENSEMBL:ENSP00000462647", "ENSEMBL:ENSP00000462647.1"], "information_content": 92.8}
{"id": "NCBIGene:11201", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLI", "equivalent_identifiers": ["NCBIGene:11201", "ENSEMBL:ENSG00000101751", "HGNC:9182", "OMIM:605252", "UMLS:C1418734", "UniProtKB:J3KQ09", "ENSEMBL:ENSP00000385196", "ENSEMBL:ENSP00000385196.3", "UniProtKB:J3KSW2", "ENSEMBL:ENSP00000462681", "ENSEMBL:ENSP00000462681.1", "UniProtKB:Q9UNA4", "PR:Q9UNA4", "ENSEMBL:ENSP00000462664", "ENSEMBL:ENSP00000462664.1", "UMLS:C5199139", "MESH:C000722070"], "information_content": 95.4}
{"id": "NCBIGene:1006", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDH8", "equivalent_identifiers": ["NCBIGene:1006", "ENSEMBL:ENSG00000150394", "HGNC:1767", "OMIM:603008", "UMLS:C1413282", "UniProtKB:J3QKW5", "ENSEMBL:ENSP00000463266", "ENSEMBL:ENSP00000463266.1", "UniProtKB:J3QLE6", "ENSEMBL:ENSP00000463511", "ENSEMBL:ENSP00000463511.1", "UniProtKB:P55286", "PR:P55286", "ENSEMBL:ENSP00000462701", "ENSEMBL:ENSP00000462701.1", "UMLS:C1609097", "MESH:C112316"], "information_content": 95.4}
{"id": "UniProtKB:Q6GQQ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "OTU domain-containing protein 7B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6GQQ9-1", "PR:Q6GQQ9-1", "ENSEMBL:ENSP00000462729", "ENSEMBL:ENSP00000462729.1"], "information_content": 100.0}
{"id": "NCBIGene:347442", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCAF8L2", "equivalent_identifiers": ["NCBIGene:347442", "ENSEMBL:ENSG00000189186", "HGNC:31811", "UMLS:C1538085", "UniProtKB:P0C7V8", "PR:P0C7V8", "ENSEMBL:ENSP00000462745", "ENSEMBL:ENSP00000462745.1", "ENSEMBL:ENSP00000479800", "ENSEMBL:ENSP00000479800.1"], "information_content": 100.0}
{"id": "NCBIGene:26151", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAT9", "equivalent_identifiers": ["NCBIGene:26151", "ENSEMBL:ENSG00000109065", "HGNC:23133", "OMIM:620913", "UMLS:C1826353", "UniProtKB:J3KRQ7", "ENSEMBL:ENSP00000462120", "ENSEMBL:ENSP00000462120.1", "UniProtKB:J3KSE9", "ENSEMBL:ENSP00000462454", "ENSEMBL:ENSP00000462454.1", "UniProtKB:J3KT72", "ENSEMBL:ENSP00000462835", "ENSEMBL:ENSP00000462835.1", "UniProtKB:J3QL33", "ENSEMBL:ENSP00000463353", "ENSEMBL:ENSP00000463353.1", "UniProtKB:J3QQP3", "ENSEMBL:ENSP00000463824", "ENSEMBL:ENSP00000463824.1", "UniProtKB:Q9BTE0", "PR:Q9BTE0"]}
{"id": "MONDO:0001828", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired color blindness", "equivalent_identifiers": ["MONDO:0001828", "DOID:13912", "UMLS:C0155018", "MEDDRA:10010051", "MEDDRA:10055513", "NCIT:C118712", "SNOMEDCT:71676008", "medgen:57828", "ICD10:H53.52", "ICD9:368.55"], "information_content": 100.0}
{"id": "UniProtKB:Q68DK7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "male-specific lethal 1 homolog isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q68DK7-3", "PR:Q68DK7-3", "ENSEMBL:ENSP00000462945", "ENSEMBL:ENSP00000462945.1"], "information_content": 100.0}
{"id": "MONDO:0012518", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myasthenic syndrome 12", "equivalent_identifiers": ["MONDO:0012518", "DOID:0110660", "OMIM:610542", "UMLS:C3552335", "NCIT:C168997", "medgen:765249"], "information_content": 100.0}
{"id": "UniProtKB:Q96QE5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription elongation factor, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QE5-1", "PR:Q96QE5-1", "ENSEMBL:ENSP00000462963", "ENSEMBL:ENSP00000462963.1"], "information_content": 100.0}
{"id": "NCBIGene:6875", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TAF4B", "equivalent_identifiers": ["NCBIGene:6875", "ENSEMBL:ENSG00000141384", "HGNC:11538", "OMIM:601689", "UMLS:C1420572", "UniProtKB:B4DYT3", "UniProtKB:J3KTH2", "ENSEMBL:ENSP00000462980", "ENSEMBL:ENSP00000462980.1", "UMLS:C1137918", "MESH:C101881", "UniProtKB:Q92750", "PR:Q92750"]}
{"id": "UniProtKB:Q96N06-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis-associated protein 33 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96N06-2", "PR:Q96N06-2", "ENSEMBL:ENSP00000462996", "ENSEMBL:ENSP00000462996.1"], "information_content": 100.0}
{"id": "MONDO:0013990", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pontocerebellar hypoplasia type 8", "equivalent_identifiers": ["MONDO:0013990", "DOID:0060277", "OMIM:614961", "orphanet:324569", "UMLS:C3554209", "SNOMEDCT:718611007", "medgen:767123"], "information_content": 100.0}
{"id": "NCBIGene:84299", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MIEN1", "equivalent_identifiers": ["NCBIGene:84299", "ENSEMBL:ENSG00000141741", "HGNC:28230", "OMIM:611802", "UMLS:C1428682", "UniProtKB:J3KTI2", "ENSEMBL:ENSP00000462998", "ENSEMBL:ENSP00000462998.1", "UMLS:C1869270", "MESH:C517054", "UniProtKB:Q9BRT3", "PR:Q9BRT3", "ENSEMBL:ENSP00000377778", "ENSEMBL:ENSP00000377778.3"]}
{"id": "UniProtKB:Q13772-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor coactivator 4 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q13772-4", "PR:Q13772-4", "ENSEMBL:ENSP00000463027", "ENSEMBL:ENSP00000463027.1"], "information_content": 100.0}
{"id": "NCBIGene:2658", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GDF2", "equivalent_identifiers": ["NCBIGene:2658", "ENSEMBL:ENSG00000263761", "HGNC:4217", "OMIM:605120", "UMLS:C1415033", "UniProtKB:B2RC63", "UMLS:C2003591", "MESH:C525887", "UniProtKB:Q9UK05", "PR:Q9UK05", "ENSEMBL:ENSP00000463051", "ENSEMBL:ENSP00000463051.1", "UMLS:C4282428"], "information_content": 95.4}
{"id": "NCBIGene:653598", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPIAL4C", "equivalent_identifiers": ["NCBIGene:653598", "ENSEMBL:ENSG00000288867", "HGNC:33995", "UMLS:C2678573", "UniProtKB:A0A0B4J2A2", "PR:A0A0B4J2A2", "ENSEMBL:ENSP00000463057", "ENSEMBL:ENSP00000463057.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5S9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA-binding protein 8A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5S9-1", "PR:Q9Y5S9-1", "ENSEMBL:ENSP00000463058", "ENSEMBL:ENSP00000463058.2", "ENSEMBL:ENSP00000488265", "ENSEMBL:ENSP00000488265.1", "ENSEMBL:ENSP00000510519", "ENSEMBL:ENSP00000510519.1"], "information_content": 100.0}
{"id": "UniProtKB:Q68DV7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase RNF43 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68DV7-1", "PR:Q68DV7-1", "ENSEMBL:ENSP00000385328", "ENSEMBL:ENSP00000385328.2", "ENSEMBL:ENSP00000462764", "ENSEMBL:ENSP00000462764.1", "ENSEMBL:ENSP00000463069", "ENSEMBL:ENSP00000463069.1"], "information_content": 100.0}
{"id": "UniProtKB:P08118-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-microseminoprotein isoform hPSP94 (human)", "equivalent_identifiers": ["UniProtKB:P08118-1", "PR:P08118-1", "ENSEMBL:ENSP00000463092", "ENSEMBL:ENSP00000463092.1"], "information_content": 100.0}
{"id": "NCBIGene:5949", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBP3", "equivalent_identifiers": ["NCBIGene:5949", "ENSEMBL:ENSG00000265203", "HGNC:9921", "OMIM:180290", "UMLS:C1419319", "UniProtKB:P10745", "PR:P10745", "ENSEMBL:ENSP00000463151", "ENSEMBL:ENSP00000463151.1", "UMLS:C1455426"], "information_content": 92.8}
{"id": "UniProtKB:Q9BTT0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acidic leucine-rich nuclear phosphoprotein 32 family member E isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTT0-1", "PR:Q9BTT0-1", "ENSEMBL:ENSP00000463154", "ENSEMBL:ENSP00000463154.1"], "information_content": 100.0}
{"id": "MONDO:0018695", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "avian influenza", "equivalent_identifiers": ["MONDO:0018695", "DOID:4492", "orphanet:454836", "EFO:0005222", "UMLS:C0016627", "MESH:D005585", "MEDDRA:10064097", "MEDDRA:10073988", "SNOMEDCT:55604004", "medgen:42091", "ICD10:J09.X"], "information_content": 100.0}
{"id": "UniProtKB:Q8N9M1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C19orf47 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9M1-1", "PR:Q8N9M1-1", "ENSEMBL:ENSP00000463159", "ENSEMBL:ENSP00000463159.1"], "information_content": 100.0}
{"id": "NCBIGene:8926", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNURF", "equivalent_identifiers": ["NCBIGene:8926", "ENSEMBL:ENSG00000273173", "HGNC:11171", "UMLS:C1420299", "UniProtKB:Q9Y675", "PR:Q9Y675", "ENSEMBL:ENSP00000342152", "ENSEMBL:ENSP00000342152.4", "ENSEMBL:ENSP00000463201", "ENSEMBL:ENSP00000463201.1", "ENSEMBL:ENSP00000463396", "ENSEMBL:ENSP00000463396.1", "UMLS:C1101013", "UMLS:C3541315", "MESH:C445239"], "information_content": 95.4}
{"id": "NCBIGene:132430", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PABPC4L", "equivalent_identifiers": ["NCBIGene:132430", "ENSEMBL:ENSG00000254535", "HGNC:31955", "UMLS:C1538562", "UniProtKB:P0CB38", "PR:P0CB38", "ENSEMBL:ENSP00000463233", "ENSEMBL:ENSP00000463233.1"], "information_content": 100.0}
{"id": "NCBIGene:26022", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM98", "equivalent_identifiers": ["NCBIGene:26022", "ENSEMBL:ENSG00000006042", "HGNC:24529", "OMIM:615949", "UMLS:C1823358", "UniProtKB:Q9Y2Y6", "PR:Q9Y2Y6", "ENSEMBL:ENSP00000378138", "ENSEMBL:ENSP00000378138.3", "ENSEMBL:ENSP00000463245", "ENSEMBL:ENSP00000463245.1", "UMLS:C3883905", "MESH:C000592526"], "information_content": 92.8}
{"id": "NCBIGene:136259", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLF14", "equivalent_identifiers": ["NCBIGene:136259", "ENSEMBL:ENSG00000266265", "HGNC:23025", "OMIM:609393", "UMLS:C2700595", "UniProtKB:Q8TD94", "PR:Q8TD94", "ENSEMBL:ENSP00000463287", "ENSEMBL:ENSP00000463287.1", "UMLS:C1447832", "MESH:C000730956", "MESH:C417549"], "information_content": 100.0}
{"id": "UniProtKB:P28827-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase mu isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P28827-2", "PR:P28827-2", "ENSEMBL:ENSP00000463325", "ENSEMBL:ENSP00000463325.1"], "information_content": 100.0}
{"id": "UniProtKB:A9UHW6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MIF4G domain-containing protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:A9UHW6-3", "PR:A9UHW6-3", "ENSEMBL:ENSP00000462459", "ENSEMBL:ENSP00000462459.1", "ENSEMBL:ENSP00000462655", "ENSEMBL:ENSP00000462655.2", "ENSEMBL:ENSP00000463334", "ENSEMBL:ENSP00000463334.1"], "information_content": 100.0}
{"id": "NCBIGene:100130933", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERLN", "equivalent_identifiers": ["NCBIGene:100130933", "ENSEMBL:ENSG00000259120", "HGNC:40032", "OMIM:620531", "UMLS:C3543511", "UniProtKB:P0DI80", "PR:P0DI80", "ENSEMBL:ENSP00000450581", "ENSEMBL:ENSP00000450581.2", "ENSEMBL:ENSP00000463361", "ENSEMBL:ENSP00000463361.1"], "information_content": 100.0}
{"id": "MONDO:0002493", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "prostatic acinar adenocarcinoma", "equivalent_identifiers": ["MONDO:0002493", "DOID:3024", "UMLS:C1332139", "NCIT:C5596", "medgen:231350"], "information_content": 82.6}
{"id": "NCBIGene:645369", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM200C", "equivalent_identifiers": ["NCBIGene:645369", "ENSEMBL:ENSG00000206432", "HGNC:37208", "UMLS:C2828875", "UniProtKB:A6NKL6", "PR:A6NKL6", "ENSEMBL:ENSP00000372982", "ENSEMBL:ENSP00000372982.2", "ENSEMBL:ENSP00000463375", "ENSEMBL:ENSP00000463375.1"], "information_content": 100.0}
{"id": "NCBIGene:9554", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEC22B", "equivalent_identifiers": ["NCBIGene:9554", "ENSEMBL:ENSG00000265808", "HGNC:10700", "OMIM:604029", "UMLS:C1419924", "UniProtKB:O75396", "PR:O75396", "ENSEMBL:ENSP00000463393", "ENSEMBL:ENSP00000463393.1", "UMLS:C3537287"], "information_content": 89.4}
{"id": "NCBIGene:730262", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPIAL4E", "equivalent_identifiers": ["NCBIGene:730262", "ENSEMBL:ENSG00000271567", "HGNC:33997", "OMIM:608608", "UMLS:C2678575", "UniProtKB:A0A075B759", "PR:A0A075B759", "ENSEMBL:ENSP00000463419", "ENSEMBL:ENSP00000463419.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H252-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-gated inwardly rectifying potassium channel KCNH6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H252-1", "PR:Q9H252-1", "ENSEMBL:ENSP00000463533", "ENSEMBL:ENSP00000463533.1"], "information_content": 100.0}
{"id": "NCBIGene:103910", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYL12B", "equivalent_identifiers": ["NCBIGene:103910", "ENSEMBL:ENSG00000118680", "HGNC:29827", "OMIM:609211", "UMLS:C1836604", "UniProtKB:O14950", "PR:O14950", "ENSEMBL:ENSP00000237500", "ENSEMBL:ENSP00000237500.5", "ENSEMBL:ENSP00000383037", "ENSEMBL:ENSP00000383037.5", "ENSEMBL:ENSP00000463559", "ENSEMBL:ENSP00000463559.1", "ENSEMBL:ENSP00000464464", "ENSEMBL:ENSP00000464464.1", "ENSEMBL:ENSP00000496809", "ENSEMBL:ENSP00000496809.1"], "information_content": 86.3}
{"id": "UniProtKB:Q9NPH0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysophosphatidic acid phosphatase type 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPH0-1", "PR:Q9NPH0-1", "ENSEMBL:ENSP00000463574", "ENSEMBL:ENSP00000463574.1"], "information_content": 100.0}
{"id": "NCBIGene:27246", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF115", "equivalent_identifiers": ["NCBIGene:27246", "ENSEMBL:ENSG00000265491", "HGNC:18154", "OMIM:619535", "UMLS:C1425350", "UniProtKB:Q9Y4L5", "PR:Q9Y4L5", "ENSEMBL:ENSP00000463650", "ENSEMBL:ENSP00000463650.1", "UMLS:C1666243", "MESH:C506934"], "information_content": 95.4}
{"id": "UniProtKB:A6NFN3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA binding protein fox-1 homolog 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NFN3-1", "PR:A6NFN3-1", "ENSEMBL:ENSP00000463653", "ENSEMBL:ENSP00000463653.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N144-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gap junction delta-3 protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N144-1", "PR:Q8N144-1", "ENSEMBL:ENSP00000463752", "ENSEMBL:ENSP00000463752.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NA31-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "telomere repeats-binding bouquet formation protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NA31-1", "PR:Q8NA31-1", "ENSEMBL:ENSP00000462883", "ENSEMBL:ENSP00000462883.1", "ENSEMBL:ENSP00000463762", "ENSEMBL:ENSP00000463762.1"], "information_content": 100.0}
{"id": "NCBIGene:3768", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNJ12", "equivalent_identifiers": ["NCBIGene:3768", "ENSEMBL:ENSG00000184185", "HGNC:6258", "OMIM:602323", "UMLS:C1416579", "UniProtKB:Q14500", "PR:Q14500", "ENSEMBL:ENSP00000328150", "ENSEMBL:ENSP00000328150.5", "ENSEMBL:ENSP00000463778", "ENSEMBL:ENSP00000463778.1"], "information_content": 100.0}
{"id": "NCBIGene:6154", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL26", "equivalent_identifiers": ["NCBIGene:6154", "ENSEMBL:ENSG00000161970", "HGNC:10327", "OMIM:603704", "UMLS:C1419651", "UniProtKB:P61254", "PR:P61254", "ENSEMBL:ENSP00000462322", "ENSEMBL:ENSP00000462322.1", "ENSEMBL:ENSP00000463470", "ENSEMBL:ENSP00000463470.1", "ENSEMBL:ENSP00000463784", "ENSEMBL:ENSP00000463784.1", "ENSEMBL:ENSP00000498177", "ENSEMBL:ENSP00000498177.1", "UMLS:C1452063", "UMLS:C5445011", "MESH:C489216"], "information_content": 89.4}
{"id": "UniProtKB:P18621-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein uL22 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P18621-1", "PR:P18621-1", "ENSEMBL:ENSP00000462023", "ENSEMBL:ENSP00000462023.1", "ENSEMBL:ENSP00000462385", "ENSEMBL:ENSP00000462385.1", "ENSEMBL:ENSP00000463842", "ENSEMBL:ENSP00000463842.1", "ENSEMBL:ENSP00000480555", "ENSEMBL:ENSP00000480555.1", "ENSEMBL:ENSP00000482577", "ENSEMBL:ENSP00000482577.1"], "information_content": 100.0}
{"id": "MONDO:0010142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypothyroidism due to TSH receptor mutations", "equivalent_identifiers": ["MONDO:0010142", "DOID:0070126", "OMIM:275200", "orphanet:90673", "UMLS:C3493776", "MESH:C576976", "SNOMEDCT:1230272009", "medgen:487729"], "information_content": 100.0}
{"id": "NCBIGene:396", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGDIA", "equivalent_identifiers": ["NCBIGene:396", "ENSEMBL:ENSG00000141522", "HGNC:678", "OMIM:601925", "UMLS:C1412525", "UniProtKB:J3QQX2", "ENSEMBL:ENSP00000463939", "ENSEMBL:ENSP00000463939.1", "UniProtKB:P52565", "PR:P52565", "UMLS:C3489868", "MESH:C569638", "UniProtKB:V9HWE8"]}
{"id": "NCBIGene:100132406", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NBPF10", "equivalent_identifiers": ["NCBIGene:100132406", "ENSEMBL:ENSG00000271425", "HGNC:31992", "OMIM:614000", "UMLS:C1826368", "UniProtKB:Q6P3W6", "PR:Q6P3W6", "ENSEMBL:ENSP00000463957", "ENSEMBL:ENSP00000463957.6"], "information_content": 100.0}
{"id": "NCBIGene:9123", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC16A3", "equivalent_identifiers": ["NCBIGene:9123", "ENSEMBL:ENSG00000141526", "HGNC:10924", "OMIM:603877", "UMLS:C1420104", "UniProtKB:O15427", "PR:O15427", "ENSEMBL:ENSP00000376150", "ENSEMBL:ENSP00000376150.1", "ENSEMBL:ENSP00000376152", "ENSEMBL:ENSP00000376152.1", "ENSEMBL:ENSP00000462405", "ENSEMBL:ENSP00000462405.1", "ENSEMBL:ENSP00000463978", "ENSEMBL:ENSP00000463978.1", "ENSEMBL:ENSP00000464112", "ENSEMBL:ENSP00000464112.2", "ENSEMBL:ENSP00000464625", "ENSEMBL:ENSP00000464625.2", "ENSEMBL:ENSP00000482013", "ENSEMBL:ENSP00000482013.1", "ENSEMBL:ENSP00000483212", "ENSEMBL:ENSP00000483212.1", "UMLS:C0539599", "MESH:C106260"], "information_content": 85.5}
{"id": "NCBIGene:91746", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YTHDC1", "equivalent_identifiers": ["NCBIGene:91746", "ENSEMBL:ENSG00000083896", "HGNC:30626", "OMIM:617283", "UMLS:C1823897", "UniProtKB:J3QR07", "ENSEMBL:ENSP00000463982", "ENSEMBL:ENSP00000463982.1", "ENSEMBL:ENSP00000486746", "ENSEMBL:ENSP00000486746.1", "UniProtKB:Q96MU7", "PR:Q96MU7", "UMLS:C1453368", "MESH:C490769"]}
{"id": "UniProtKB:Q9UKF7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoplasmic phosphatidylinositol transfer protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKF7-1", "PR:Q9UKF7-1", "ENSEMBL:ENSP00000464006", "ENSEMBL:ENSP00000464006.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14164-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inhibitor of nuclear factor kappa-B kinase subunit epsilon isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q14164-1", "PR:Q14164-1", "ENSEMBL:ENSP00000464030", "ENSEMBL:ENSP00000464030.1"], "information_content": 100.0}
{"id": "UniProtKB:P21127-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-dependent kinase 11B isoform hSV9 (human)", "equivalent_identifiers": ["UniProtKB:P21127-1", "PR:P21127-1", "ENSEMBL:ENSP00000464036", "ENSEMBL:ENSP00000464036.2"], "information_content": 100.0}
{"id": "NCBIGene:57674", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF213", "equivalent_identifiers": ["NCBIGene:57674", "ENSEMBL:ENSG00000173821", "HGNC:14539", "OMIM:613768", "UMLS:C1422738", "UniProtKB:A0A0A0MTC1", "ENSEMBL:ENSP00000425956", "ENSEMBL:ENSP00000425956.2", "UniProtKB:A0A0A0MTR7", "ENSEMBL:ENSP00000464087", "ENSEMBL:ENSP00000464087.1", "UniProtKB:Q63HN8", "PR:Q63HN8", "UMLS:C3275247", "MESH:C557998"]}
{"id": "NCBIGene:55803", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAP2", "equivalent_identifiers": ["NCBIGene:55803", "ENSEMBL:ENSG00000184060", "HGNC:16487", "OMIM:608635", "UMLS:C1424319", "UniProtKB:Q2V6Q1", "ENSEMBL:ENSP00000464121", "ENSEMBL:ENSP00000464121.1", "UMLS:C1173726", "MESH:C470610", "UniProtKB:Q9NPF8", "PR:Q9NPF8"]}
{"id": "NCBIGene:2662", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GDF10", "equivalent_identifiers": ["NCBIGene:2662", "ENSEMBL:ENSG00000266524", "HGNC:4215", "OMIM:601361", "UMLS:C1333665", "UniProtKB:P55107", "PR:P55107", "ENSEMBL:ENSP00000464145", "ENSEMBL:ENSP00000464145.1", "UMLS:C2003476", "MESH:C525785"], "information_content": 100.0}
{"id": "MONDO:0024555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "megalencephalic leukoencephalopathy with subcortical cysts 1", "equivalent_identifiers": ["MONDO:0024555", "DOID:0080316", "OMIM:604004", "UMLS:C5779875", "medgen:1826136"], "information_content": 100.0}
{"id": "UniProtKB:Q9C091-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GREB1-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C091-1", "PR:Q9C091-1", "ENSEMBL:ENSP00000412060", "ENSEMBL:ENSP00000412060.1", "ENSEMBL:ENSP00000464162", "ENSEMBL:ENSP00000464162.1"], "information_content": 100.0}
{"id": "UniProtKB:J3QRE1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "J3QRE1_HUMAN Nonsense-mediated mRNA decay factor SMG8 (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:J3QRE1", "ENSEMBL:ENSP00000464167", "ENSEMBL:ENSP00000464167.1"]}
{"id": "NCBIGene:1534", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYB561", "equivalent_identifiers": ["NCBIGene:1534", "ENSEMBL:ENSG00000008283", "HGNC:2571", "OMIM:600019", "UMLS:C1413837", "UniProtKB:B3KTA1", "UniProtKB:J3QRH5", "ENSEMBL:ENSP00000464215", "ENSEMBL:ENSP00000464215.1", "UniProtKB:P49447", "PR:P49447"]}
{"id": "UniProtKB:Q9HBT8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 286A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBT8-1", "PR:Q9HBT8-1", "ENSEMBL:ENSP00000397163", "ENSEMBL:ENSP00000397163.1", "ENSEMBL:ENSP00000464063", "ENSEMBL:ENSP00000464063.1", "ENSEMBL:ENSP00000464218", "ENSEMBL:ENSP00000464218.1"], "information_content": 100.0}
{"id": "NCBIGene:391104", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VHLL", "equivalent_identifiers": ["NCBIGene:391104", "ENSEMBL:ENSG00000189030", "HGNC:30666", "OMIM:619650", "UMLS:C1540181", "UniProtKB:Q6RSH7", "PR:Q6RSH7", "ENSEMBL:ENSP00000464258", "ENSEMBL:ENSP00000464258.2", "UMLS:C5391839", "MESH:C000707869"], "information_content": 100.0}
{"id": "NCBIGene:4621", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYH3", "equivalent_identifiers": ["NCBIGene:4621", "ENSEMBL:ENSG00000109063", "HGNC:7573", "OMIM:160720", "UMLS:C1417538", "UniProtKB:P11055", "PR:P11055", "ENSEMBL:ENSP00000464317", "ENSEMBL:ENSP00000464317.1", "UMLS:C5889829", "UniProtKB:Q5GJ67"], "information_content": 89.4}
{"id": "NCBIGene:644041", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C18orf63", "equivalent_identifiers": ["NCBIGene:644041", "ENSEMBL:ENSG00000206043", "HGNC:40037", "UMLS:C3146784", "UniProtKB:Q68DL7", "PR:Q68DL7", "ENSEMBL:ENSP00000464330", "ENSEMBL:ENSP00000464330.2"], "information_content": 100.0}
{"id": "NCBIGene:25873", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL36", "equivalent_identifiers": ["NCBIGene:25873", "ENSEMBL:ENSG00000130255", "HGNC:13631", "OMIM:617893", "UMLS:C1422119", "UniProtKB:Q9Y3U8", "PR:Q9Y3U8", "ENSEMBL:ENSP00000252543", "ENSEMBL:ENSP00000252543.3", "ENSEMBL:ENSP00000378081", "ENSEMBL:ENSP00000378081.2", "ENSEMBL:ENSP00000462609", "ENSEMBL:ENSP00000462609.1", "ENSEMBL:ENSP00000464342", "ENSEMBL:ENSP00000464342.1"], "information_content": 92.8}
{"id": "NCBIGene:201254", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CENPX", "equivalent_identifiers": ["NCBIGene:201254", "ENSEMBL:ENSG00000169689", "HGNC:11422", "OMIM:615128", "UMLS:C1420488", "UniProtKB:A8MT69", "PR:A8MT69", "UMLS:C2974597", "MESH:C551977", "UniProtKB:J3QRS1", "ENSEMBL:ENSP00000464357", "ENSEMBL:ENSP00000464357.1"]}
{"id": "NCBIGene:10627", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYL12A", "equivalent_identifiers": ["NCBIGene:10627", "ENSEMBL:ENSG00000101608", "HGNC:16701", "UMLS:C2681852", "UniProtKB:J3QRS3", "ENSEMBL:ENSP00000464359", "ENSEMBL:ENSP00000464359.1", "UMLS:C3530093", "MESH:C577274", "UniProtKB:P19105", "PR:P19105", "ENSEMBL:ENSP00000217652", "ENSEMBL:ENSP00000217652.3", "ENSEMBL:ENSP00000441231", "ENSEMBL:ENSP00000441231.1", "ENSEMBL:ENSP00000462171", "ENSEMBL:ENSP00000462171.1", "ENSEMBL:ENSP00000463614", "ENSEMBL:ENSP00000463614.1"]}
{"id": "UniProtKB:Q6ZSZ6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "teashirt homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZSZ6-1", "PR:Q6ZSZ6-1", "ENSEMBL:ENSP00000464391", "ENSEMBL:ENSP00000464391.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IY31-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intraflagellar transport protein 20 homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IY31-2", "PR:Q8IY31-2", "ENSEMBL:ENSP00000464443", "ENSEMBL:ENSP00000464443.1"], "information_content": 100.0}
{"id": "NCBIGene:9931", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HELZ", "equivalent_identifiers": ["NCBIGene:9931", "ENSEMBL:ENSG00000198265", "HGNC:16878", "OMIM:606699", "UMLS:C1424612", "UniProtKB:A0A2P0H7U5", "UniProtKB:B7ZLW2", "UniProtKB:J3QS41", "ENSEMBL:ENSP00000464512", "ENSEMBL:ENSP00000464512.1", "UniProtKB:P42694", "PR:P42694"]}
{"id": "NCBIGene:100287932", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TIMM23", "equivalent_identifiers": ["NCBIGene:100287932", "ENSEMBL:ENSG00000265354", "HGNC:17312", "OMIM:605034", "UMLS:C1424893", "UniProtKB:O14925", "PR:O14925", "ENSEMBL:ENSP00000464522", "ENSEMBL:ENSP00000464522.3", "UMLS:C1098559", "MESH:C438387"], "information_content": 95.4}
{"id": "NCBIGene:374819", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC37A3", "equivalent_identifiers": ["NCBIGene:374819", "ENSEMBL:ENSG00000176809", "HGNC:32427", "OMIM:616557", "UMLS:C1825884", "UniProtKB:J3QTJ5", "ENSEMBL:ENSP00000344298", "UniProtKB:O60309", "PR:O60309", "ENSEMBL:ENSP00000325713", "ENSEMBL:ENSP00000325713.5", "ENSEMBL:ENSP00000464535", "ENSEMBL:ENSP00000464535.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86W34-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "archaemetzincin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86W34-4", "PR:Q86W34-4", "ENSEMBL:ENSP00000352976", "ENSEMBL:ENSP00000352976.3", "ENSEMBL:ENSP00000376481", "ENSEMBL:ENSP00000376481.2", "ENSEMBL:ENSP00000463012", "ENSEMBL:ENSP00000463012.1", "ENSEMBL:ENSP00000464133", "ENSEMBL:ENSP00000464133.1", "ENSEMBL:ENSP00000464635", "ENSEMBL:ENSP00000464635.1", "ENSEMBL:ENSP00000483162", "ENSEMBL:ENSP00000483162.1", "ENSEMBL:ENSP00000501934", "ENSEMBL:ENSP00000501934.1"], "information_content": 100.0}
{"id": "UniProtKB:Q68CL5-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin polyglutamylase complex subunit 2 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q68CL5-5", "PR:Q68CL5-5", "ENSEMBL:ENSP00000464780", "ENSEMBL:ENSP00000464780.1"], "information_content": 100.0}
{"id": "NCBIGene:6155", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL27", "equivalent_identifiers": ["NCBIGene:6155", "ENSEMBL:ENSG00000131469", "HGNC:10328", "OMIM:607526", "UMLS:C1419652", "UniProtKB:P61353", "PR:P61353", "ENSEMBL:ENSP00000253788", "ENSEMBL:ENSP00000253788.5", "ENSEMBL:ENSP00000464813", "ENSEMBL:ENSP00000464813.1", "ENSEMBL:ENSP00000467587", "ENSEMBL:ENSP00000467587.1", "UMLS:C1454931"], "information_content": 92.8}
{"id": "UniProtKB:Q13057-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "bifunctional coenzyme A synthase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13057-2", "PR:Q13057-2", "ENSEMBL:ENSP00000464814", "ENSEMBL:ENSP00000464814.1"], "information_content": 100.0}
{"id": "NCBIGene:826", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAPNS1", "equivalent_identifiers": ["NCBIGene:826", "ENSEMBL:ENSG00000126247", "HGNC:1481", "OMIM:114170", "UMLS:C1413114", "UniProtKB:A0A0C4DGQ5", "ENSEMBL:ENSP00000468041", "ENSEMBL:ENSP00000468041.1", "UMLS:C2352497", "MESH:C527669", "UniProtKB:P04632", "PR:P04632", "ENSEMBL:ENSP00000246533", "ENSEMBL:ENSP00000246533.2", "ENSEMBL:ENSP00000464849", "ENSEMBL:ENSP00000464849.1"], "information_content": 95.4}
{"id": "NCBIGene:162655", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF519", "equivalent_identifiers": ["NCBIGene:162655", "ENSEMBL:ENSG00000175322", "HGNC:30574", "UMLS:C1428984", "UniProtKB:Q8TB69", "PR:Q8TB69", "ENSEMBL:ENSP00000464872", "ENSEMBL:ENSP00000464872.2"], "information_content": 100.0}
{"id": "NCBIGene:85451", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UNK", "equivalent_identifiers": ["NCBIGene:85451", "ENSEMBL:ENSG00000132478", "HGNC:29369", "OMIM:616375", "UMLS:C1823916", "UniProtKB:Q9C0B0", "PR:Q9C0B0", "ENSEMBL:ENSP00000464893", "ENSEMBL:ENSP00000464893.1", "UMLS:C2933233", "MESH:C548682"], "information_content": 90.9}
{"id": "UniProtKB:O43934-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UNC93-like protein MFSD11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43934-1", "PR:O43934-1", "ENSEMBL:ENSP00000337240", "ENSEMBL:ENSP00000337240.3", "ENSEMBL:ENSP00000464932", "ENSEMBL:ENSP00000464932.1", "ENSEMBL:ENSP00000466613", "ENSEMBL:ENSP00000466613.1", "ENSEMBL:ENSP00000468309", "ENSEMBL:ENSP00000468309.1", "ENSEMBL:ENSP00000485005", "ENSEMBL:ENSP00000485005.1", "ENSEMBL:ENSP00000508960", "ENSEMBL:ENSP00000508960.1"], "information_content": 100.0}
{"id": "NCBIGene:342892", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF850", "equivalent_identifiers": ["NCBIGene:342892", "ENSEMBL:ENSG00000267041", "HGNC:27994", "UMLS:C3147059", "UniProtKB:A0A087X0M6", "ENSEMBL:ENSP00000483509", "ENSEMBL:ENSP00000483509.1", "UniProtKB:A8MQ14", "PR:A8MQ14", "ENSEMBL:ENSP00000464976", "ENSEMBL:ENSP00000464976.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92918-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitogen-activated protein kinase kinase kinase kinase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92918-1", "PR:Q92918-1", "ENSEMBL:ENSP00000465039", "ENSEMBL:ENSP00000465039.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NBT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinetochore protein Spc24 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NBT2-1", "PR:Q8NBT2-1", "ENSEMBL:ENSP00000465075", "ENSEMBL:ENSP00000465075.1"], "information_content": 100.0}
{"id": "UniProtKB:O15446-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed RNA polymerase I subunit RPA34 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15446-2", "PR:O15446-2", "ENSEMBL:ENSP00000465099", "ENSEMBL:ENSP00000465099.1"], "information_content": 100.0}
{"id": "NCBIGene:439921", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MXRA7", "equivalent_identifiers": ["NCBIGene:439921", "ENSEMBL:ENSG00000182534", "HGNC:7541", "UMLS:C1417518", "UniProtKB:P84157", "PR:P84157", "UMLS:C5197319", "MESH:C000631944", "UniProtKB:Q6ZR64", "ENSEMBL:ENSP00000465103", "ENSEMBL:ENSP00000465103.1"]}
{"id": "UniProtKB:Q9NYT6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 226 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NYT6-1", "PR:Q9NYT6-1", "ENSEMBL:ENSP00000336719", "ENSEMBL:ENSP00000336719.5", "ENSEMBL:ENSP00000393265", "ENSEMBL:ENSP00000393265.1", "ENSEMBL:ENSP00000465121", "ENSEMBL:ENSP00000465121.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N815-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin N-terminal domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N815-1", "PR:Q8N815-1", "ENSEMBL:ENSP00000465204", "ENSEMBL:ENSP00000465204.1"], "information_content": 100.0}
{"id": "MONDO:0015805", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intestinal botulism", "equivalent_identifiers": ["MONDO:0015805", "DOID:0050141", "orphanet:178481", "UMLS:C1443901", "SNOMEDCT:409563004", "medgen:731170"], "information_content": 92.8}
{"id": "NCBIGene:10775", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POP4", "equivalent_identifiers": ["NCBIGene:10775", "ENSEMBL:ENSG00000105171", "HGNC:30081", "OMIM:606114", "UMLS:C1428930", "UniProtKB:O95707", "PR:O95707", "ENSEMBL:ENSP00000465213", "ENSEMBL:ENSP00000465213.1", "UMLS:C0537550", "MESH:C105253"], "information_content": 100.0}
{"id": "UniProtKB:Q8N350-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "voltage-dependent calcium channel beta subunit-associated regulatory protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8N350-4", "PR:Q8N350-4", "ENSEMBL:ENSP00000465260", "ENSEMBL:ENSP00000465260.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z403-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane channel-like protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z403-1", "PR:Q7Z403-1", "ENSEMBL:ENSP00000313408", "ENSEMBL:ENSP00000313408.2", "ENSEMBL:ENSP00000376260", "ENSEMBL:ENSP00000376260.2", "ENSEMBL:ENSP00000465261", "ENSEMBL:ENSP00000465261.1", "ENSEMBL:ENSP00000466885", "ENSEMBL:ENSP00000466885.2", "ENSEMBL:ENSP00000468255", "ENSEMBL:ENSP00000468255.2", "ENSEMBL:ENSP00000513793", "ENSEMBL:ENSP00000513793.1"], "information_content": 100.0}
{"id": "NCBIGene:341", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOC1", "equivalent_identifiers": ["NCBIGene:341", "ENSEMBL:ENSG00000130208", "HGNC:607", "OMIM:107710", "UMLS:C1412475", "UniProtKB:K7EPF9", "ENSEMBL:ENSP00000467368", "ENSEMBL:ENSP00000467368.1", "UniProtKB:P02654", "PR:P02654", "ENSEMBL:ENSP00000465356", "ENSEMBL:ENSP00000465356.1", "ENSEMBL:ENSP00000468029", "ENSEMBL:ENSP00000468029.1", "ENSEMBL:ENSP00000468276", "ENSEMBL:ENSP00000468276.2", "UMLS:C0608460", "MESH:C505803"], "information_content": 95.4}
{"id": "UniProtKB:O95049-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tight junction protein ZO-3 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O95049-4", "PR:O95049-4", "ENSEMBL:ENSP00000465419", "ENSEMBL:ENSP00000465419.1"], "information_content": 100.0}
{"id": "NCBIGene:28974", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C19orf53", "equivalent_identifiers": ["NCBIGene:28974", "ENSEMBL:ENSG00000104979", "HGNC:24991", "OMIM:620685", "UMLS:C1824494", "UniProtKB:Q9UNZ5", "PR:Q9UNZ5", "ENSEMBL:ENSP00000465432", "ENSEMBL:ENSP00000465432.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6Q6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 11A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6Q6-1", "PR:Q9Y6Q6-1", "ENSEMBL:ENSP00000465500", "ENSEMBL:ENSP00000465500.1"], "information_content": 100.0}
{"id": "UniProtKB:Q32NC0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UPF0711 protein C18orf21 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q32NC0-1", "PR:Q32NC0-1", "ENSEMBL:ENSP00000465517", "ENSEMBL:ENSP00000465517.1"], "information_content": 100.0}
{"id": "NCBIGene:9592", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IER2", "equivalent_identifiers": ["NCBIGene:9592", "ENSEMBL:ENSG00000160888", "HGNC:28871", "OMIM:620036", "UMLS:C1428748", "UniProtKB:Q9BTL4", "PR:Q9BTL4", "ENSEMBL:ENSP00000292433", "ENSEMBL:ENSP00000292433.2", "ENSEMBL:ENSP00000465617", "ENSEMBL:ENSP00000465617.1", "ENSEMBL:ENSP00000467294", "ENSEMBL:ENSP00000467294.1", "UMLS:C2742812", "MESH:C544958"], "information_content": 95.4}
{"id": "NCBIGene:2125", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EVPL", "equivalent_identifiers": ["NCBIGene:2125", "ENSEMBL:ENSG00000167880", "HGNC:3503", "OMIM:601590", "UMLS:C1414482", "UniProtKB:B7ZLH8", "UniProtKB:K7EKI0", "ENSEMBL:ENSP00000465630", "ENSEMBL:ENSP00000465630.1", "UniProtKB:Q92817", "PR:Q92817", "ENSEMBL:ENSP00000301607", "ENSEMBL:ENSP00000301607.3"]}
{"id": "MONDO:0004653", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "atypical chronic myeloid leukemia, BCR-ABL1 negative", "equivalent_identifiers": ["MONDO:0004653", "DOID:0060597", "orphanet:98824", "UMLS:C0279549", "UMLS:C1292772", "MESH:D054438", "MEDDRA:10028554", "MEDDRA:10028559", "MEDDRA:10042292", "MEDDRA:10042295", "MEDDRA:10054651", "MEDDRA:10060421", "NCIT:C3519", "NCIT:C9129", "SNOMEDCT:128826001", "SNOMEDCT:277589003", "medgen:266233", "icd11.foundation:331838766", "ICD10:C92.2", "ICD9:205.2"], "information_content": 87.2}
{"id": "MONDO:0005480", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "contact dermatitis", "equivalent_identifiers": ["MONDO:0005480", "DOID:2773", "EFO:0005319", "UMLS:C0011616", "MESH:D003877", "MEDDRA:10010790", "MEDDRA:10010803", "MEDDRA:10012442", "MEDDRA:10012492", "MEDDRA:10058308", "MEDDRA:10087729", "NCIT:C26743", "SNOMEDCT:40275004", "medgen:8329", "ICD10:L25.9", "HP:0032282"], "information_content": 84.8}
{"id": "NCBIGene:55273", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM100", "equivalent_identifiers": ["NCBIGene:55273", "ENSEMBL:ENSG00000166292", "HGNC:25607", "OMIM:616334", "UMLS:C1823360", "UniProtKB:Q9NV29", "PR:Q9NV29", "ENSEMBL:ENSP00000395328", "ENSEMBL:ENSP00000395328.2", "ENSEMBL:ENSP00000465638", "ENSEMBL:ENSP00000465638.1", "UMLS:C3710727", "MESH:C584320"], "information_content": 95.4}
{"id": "UniProtKB:O75928-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 SUMO-protein ligase PIAS2 isoform hPIAS2-beta (human)", "equivalent_identifiers": ["UniProtKB:O75928-1", "PR:O75928-1", "ENSEMBL:ENSP00000465676", "ENSEMBL:ENSP00000465676.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6Q5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-1 complex subunit mu-2 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6Q5-2", "PR:Q9Y6Q5-2", "ENSEMBL:ENSP00000465685", "ENSEMBL:ENSP00000465685.1"], "information_content": 100.0}
{"id": "NCBIGene:6567", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC16A2", "equivalent_identifiers": ["NCBIGene:6567", "ENSEMBL:ENSG00000147100", "HGNC:10923", "OMIM:300095", "UMLS:C1420103", "UniProtKB:P36021", "PR:P36021", "ENSEMBL:ENSP00000465734", "ENSEMBL:ENSP00000465734.1", "UMLS:C1307392", "MESH:C090735"], "information_content": 92.8}
{"id": "NCBIGene:29903", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC106", "equivalent_identifiers": ["NCBIGene:29903", "ENSEMBL:ENSG00000173581", "HGNC:30181", "OMIM:613478", "UMLS:C1824634", "UniProtKB:K7EMI9", "ENSEMBL:ENSP00000466521", "ENSEMBL:ENSP00000466521.1", "UniProtKB:Q9BWC9", "PR:Q9BWC9", "ENSEMBL:ENSP00000309681", "ENSEMBL:ENSP00000309681.2", "ENSEMBL:ENSP00000465757", "ENSEMBL:ENSP00000465757.1", "ENSEMBL:ENSP00000466870", "ENSEMBL:ENSP00000466870.1", "ENSEMBL:ENSP00000468539", "ENSEMBL:ENSP00000468539.1", "UMLS:C2933437", "MESH:C548897"], "information_content": 95.4}
{"id": "MONDO:0014985", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Fanconi anemia complementation group V", "equivalent_identifiers": ["MONDO:0014985", "DOID:0111080", "OMIM:617243", "UMLS:C4310652", "medgen:934619"], "information_content": 100.0}
{"id": "NCBIGene:5442", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLRMT", "equivalent_identifiers": ["NCBIGene:5442", "ENSEMBL:ENSG00000099821", "HGNC:9200", "OMIM:601778", "UMLS:C1418751", "UniProtKB:O00411", "PR:O00411", "ENSEMBL:ENSP00000465759", "ENSEMBL:ENSP00000465759.2", "UMLS:C1956834", "MESH:C519567", "UniProtKB:Q4G0F4"], "information_content": 88.2}
{"id": "NCBIGene:84337", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELOF1", "equivalent_identifiers": ["NCBIGene:84337", "ENSEMBL:ENSG00000130165", "HGNC:28691", "OMIM:619818", "UMLS:C1539355", "UniProtKB:P60002", "PR:P60002", "ENSEMBL:ENSP00000252445", "ENSEMBL:ENSP00000252445.3", "ENSEMBL:ENSP00000465765", "ENSEMBL:ENSP00000465765.2", "ENSEMBL:ENSP00000467264", "ENSEMBL:ENSP00000467264.1", "ENSEMBL:ENSP00000467330", "ENSEMBL:ENSP00000467330.2", "ENSEMBL:ENSP00000467914", "ENSEMBL:ENSP00000467914.1"], "information_content": 95.4}
{"id": "UniProtKB:Q53F39-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "metallophosphoesterase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53F39-1", "PR:Q53F39-1", "ENSEMBL:ENSP00000465894", "ENSEMBL:ENSP00000465894.1"], "information_content": 100.0}
{"id": "NCBIGene:644070", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GSG1L2", "equivalent_identifiers": ["NCBIGene:644070", "ENSEMBL:ENSG00000214978", "HGNC:51826", "UMLS:C4085536", "UniProtKB:A8MUP6", "PR:A8MUP6", "ENSEMBL:ENSP00000465978", "ENSEMBL:ENSP00000465978.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86Y91-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF18B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86Y91-5", "PR:Q86Y91-5", "ENSEMBL:ENSP00000465992", "ENSEMBL:ENSP00000465992.1"], "information_content": 100.0}
{"id": "UniProtKB:P01298-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pancreatic polypeptide prohormone isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P01298-1", "PR:P01298-1", "ENSEMBL:ENSP00000225992", "ENSEMBL:ENSP00000225992.3", "ENSEMBL:ENSP00000466009", "ENSEMBL:ENSP00000466009.1"], "information_content": 100.0}
{"id": "NCBIGene:6209", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS15", "equivalent_identifiers": ["NCBIGene:6209", "ENSEMBL:ENSG00000115268", "HGNC:10388", "OMIM:180535", "UMLS:C1419704", "UniProtKB:K7ELC2", "ENSEMBL:ENSP00000466010", "ENSEMBL:ENSP00000466010.1", "UniProtKB:P62841", "PR:P62841", "ENSEMBL:ENSP00000467466", "ENSEMBL:ENSP00000467466.3", "UMLS:C5848972"]}
{"id": "NCBIGene:1054", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEBPG", "equivalent_identifiers": ["NCBIGene:1054", "ENSEMBL:ENSG00000153879", "HGNC:1837", "OMIM:138972", "UMLS:C1413325", "UniProtKB:P53567", "PR:P53567", "ENSEMBL:ENSP00000284000", "ENSEMBL:ENSP00000284000.2", "ENSEMBL:ENSP00000466022", "ENSEMBL:ENSP00000466022.2", "ENSEMBL:ENSP00000499062", "ENSEMBL:ENSP00000499062.1", "UMLS:C2930639"], "information_content": 95.4}
{"id": "NCBIGene:1153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIRBP", "equivalent_identifiers": ["NCBIGene:1153", "ENSEMBL:ENSG00000099622", "HGNC:1982", "OMIM:602649", "UMLS:C1413426", "UniProtKB:D6W5Y5", "ENSEMBL:ENSP00000465077", "ENSEMBL:ENSP00000465077.1", "ENSEMBL:ENSP00000465558", "ENSEMBL:ENSP00000465558.1", "ENSEMBL:ENSP00000466025", "ENSEMBL:ENSP00000466025.1", "ENSEMBL:ENSP00000466897", "ENSEMBL:ENSP00000466897.1", "ENSEMBL:ENSP00000486590", "ENSEMBL:ENSP00000486590.1", "UMLS:C1530527", "MESH:C491390", "UniProtKB:K7EPM4", "ENSEMBL:ENSP00000464906", "ENSEMBL:ENSP00000464906.1", "ENSEMBL:ENSP00000467449", "ENSEMBL:ENSP00000467449.1", "ENSEMBL:ENSP00000467734", "ENSEMBL:ENSP00000467734.1", "ENSEMBL:ENSP00000467848", "ENSEMBL:ENSP00000467848.1", "ENSEMBL:ENSP00000468645", "ENSEMBL:ENSP00000468645.1", "UniProtKB:K7EQR7", "ENSEMBL:ENSP00000467948", "ENSEMBL:ENSP00000467948.1", "UniProtKB:Q14011", "PR:Q14011", "UniProtKB:Q53XX5"]}
{"id": "NCBIGene:342908", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF404", "equivalent_identifiers": ["NCBIGene:342908", "ENSEMBL:ENSG00000176222", "HGNC:19417", "UMLS:C1426229", "UniProtKB:Q494X3", "PR:Q494X3", "ENSEMBL:ENSP00000466051", "ENSEMBL:ENSP00000466051.1", "UMLS:C4547212", "MESH:C000623266"], "information_content": 100.0}
{"id": "NCBIGene:646627", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LYPD8", "equivalent_identifiers": ["NCBIGene:646627", "ENSEMBL:ENSG00000259823", "HGNC:44208", "OMIM:617067", "UMLS:C3544050", "UniProtKB:Q6UX82", "PR:Q6UX82", "ENSEMBL:ENSP00000466070", "ENSEMBL:ENSP00000466070.2", "UMLS:C4278844", "MESH:C000607339"], "information_content": 100.0}
{"id": "MONDO:0004778", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epididymo-orchitis", "equivalent_identifiers": ["MONDO:0004778", "DOID:9401", "UMLS:C0149881", "MEDDRA:10015005", "MEDDRA:10015008", "SNOMEDCT:197983000", "medgen:508448", "icd11.foundation:1745517194", "ICD10:N45.3", "ICD9:604"], "information_content": 92.8}
{"id": "NCBIGene:342933", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZSCAN5B", "equivalent_identifiers": ["NCBIGene:342933", "ENSEMBL:ENSG00000197213", "HGNC:34246", "OMIM:620918", "UMLS:C2681172", "UniProtKB:A6NJL1", "PR:A6NJL1", "ENSEMBL:ENSP00000466072", "ENSEMBL:ENSP00000466072.2"], "information_content": 100.0}
{"id": "NCBIGene:1991", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ELANE", "equivalent_identifiers": ["NCBIGene:1991", "ENSEMBL:ENSG00000197561", "HGNC:3309", "OMIM:130130", "UMLS:C1414369", "UniProtKB:P08246", "PR:P08246", "ENSEMBL:ENSP00000263621", "ENSEMBL:ENSP00000263621.1", "ENSEMBL:ENSP00000466090", "ENSEMBL:ENSP00000466090.1", "ENSEMBL:ENSP00000480128", "ENSEMBL:ENSP00000480128.1", "ENSEMBL:ENSP00000488075", "ENSEMBL:ENSP00000488075.1", "UMLS:C0065866", "UMLS:C4551701", "UMLS:C5401448", "MESH:C000628800", "MESH:C034869"], "information_content": 100.0}
{"id": "UniProtKB:O43148-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mRNA cap guanine-N(7) methyltransferase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O43148-2", "PR:O43148-2", "ENSEMBL:ENSP00000466111", "ENSEMBL:ENSP00000466111.1"], "information_content": 100.0}
{"id": "NCBIGene:91442", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAAP24", "equivalent_identifiers": ["NCBIGene:91442", "ENSEMBL:ENSG00000131944", "HGNC:28467", "OMIM:610884", "UMLS:C1824481", "UniProtKB:A0A0S2Z5V6", "UMLS:C1873407", "MESH:C518296", "UniProtKB:K7EKQ4", "ENSEMBL:ENSP00000465569", "ENSEMBL:ENSP00000465569.1", "ENSEMBL:ENSP00000465728", "ENSEMBL:ENSP00000465728.1", "UniProtKB:Q9BTP7", "PR:Q9BTP7", "ENSEMBL:ENSP00000466121", "ENSEMBL:ENSP00000466121.1", "ENSEMBL:ENSP00000468475", "ENSEMBL:ENSP00000468475.1", "ENSEMBL:ENSP00000514718", "ENSEMBL:ENSP00000514718.1", "UMLS:C2985129"], "information_content": 100.0}
{"id": "NCBIGene:5589", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRKCSH", "equivalent_identifiers": ["NCBIGene:5589", "ENSEMBL:ENSG00000130175", "HGNC:9411", "OMIM:177060", "UMLS:C1418927", "UniProtKB:B4DJQ5", "UMLS:C1674650", "MESH:C070368", "UniProtKB:K7ELL7", "ENSEMBL:ENSP00000466134", "ENSEMBL:ENSP00000466134.1", "ENSEMBL:ENSP00000503163", "ENSEMBL:ENSP00000503163.1", "UniProtKB:P14314", "PR:P14314"]}
{"id": "UniProtKB:K7ELM3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "K7ELM3_HUMAN Chorionic gonadotropin subunit beta 1 (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:K7ELM3", "ENSEMBL:ENSP00000466140", "ENSEMBL:ENSP00000466140.1", "ENSEMBL:ENSP00000472896", "ENSEMBL:ENSP00000472896.2"]}
{"id": "UniProtKB:O14737-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "programmed cell death protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14737-1", "PR:O14737-1", "ENSEMBL:ENSP00000466214", "ENSEMBL:ENSP00000466214.1"], "information_content": 100.0}
{"id": "UniProtKB:P53396-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-citrate synthase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P53396-1", "PR:P53396-1", "ENSEMBL:ENSP00000253792", "ENSEMBL:ENSP00000253792.2", "ENSEMBL:ENSP00000466259", "ENSEMBL:ENSP00000466259.1"], "information_content": 100.0}
{"id": "UniProtKB:P59045-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NACHT, LRR and PYD domains-containing protein 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P59045-1", "PR:P59045-1", "ENSEMBL:ENSP00000466285", "ENSEMBL:ENSP00000466285.1"], "information_content": 100.0}
{"id": "UniProtKB:O60499-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "syntaxin-10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60499-1", "PR:O60499-1", "ENSEMBL:ENSP00000466298", "ENSEMBL:ENSP00000466298.1"], "information_content": 100.0}
{"id": "MONDO:0013810", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "COG6-congenital disorder of glycosylation", "equivalent_identifiers": ["MONDO:0013810", "DOID:0070264", "OMIM:614576", "orphanet:464443", "UMLS:C3553230", "SNOMEDCT:1220574003", "medgen:766144"], "information_content": 100.0}
{"id": "MONDO:0006812", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "intracranial vasospasm", "equivalent_identifiers": ["MONDO:0006812", "DOID:13100", "EFO:1000994", "UMLS:C0751895", "MESH:D020301", "medgen:199760"], "information_content": 100.0}
{"id": "UniProtKB:O60331-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O60331-3", "PR:O60331-3", "ENSEMBL:ENSP00000466363", "ENSEMBL:ENSP00000466363.1"], "information_content": 100.0}
{"id": "NCBIGene:439", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GET3", "equivalent_identifiers": ["NCBIGene:439", "ENSEMBL:ENSG00000198356", "HGNC:752", "OMIM:601913", "UMLS:C1412587", "UniProtKB:O43681", "PR:O43681", "ENSEMBL:ENSP00000349887", "ENSEMBL:ENSP00000349887.3", "ENSEMBL:ENSP00000466379", "ENSEMBL:ENSP00000466379.1", "UMLS:C0753617", "MESH:C489667"], "information_content": 89.4}
{"id": "UniProtKB:O75771-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA repair protein RAD51 homolog 4 isoform h8 (human)", "equivalent_identifiers": ["UniProtKB:O75771-8", "PR:O75771-8", "ENSEMBL:ENSP00000466399", "ENSEMBL:ENSP00000466399.1"], "information_content": 100.0}
{"id": "NCBIGene:83983", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSSK6", "equivalent_identifiers": ["NCBIGene:83983", "ENSEMBL:ENSG00000178093", "HGNC:30410", "OMIM:610712", "UMLS:C1540108", "UniProtKB:A0A024R7Q5", "UMLS:C1569920", "MESH:C501082", "UniProtKB:Q9BXA6", "PR:Q9BXA6", "ENSEMBL:ENSP00000466056", "ENSEMBL:ENSP00000466056.1", "ENSEMBL:ENSP00000466477", "ENSEMBL:ENSP00000466477.1"], "information_content": 95.4}
{"id": "NCBIGene:7089", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLE2", "equivalent_identifiers": ["NCBIGene:7089", "ENSEMBL:ENSG00000065717", "HGNC:11838", "OMIM:601041", "UMLS:C1420753", "UniProtKB:K7EMK7", "ENSEMBL:ENSP00000466542", "ENSEMBL:ENSP00000466542.1", "UniProtKB:Q04725", "PR:Q04725", "UMLS:C1431649", "MESH:C116694"]}
{"id": "NCBIGene:388551", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CEACAM16", "equivalent_identifiers": ["NCBIGene:388551", "ENSEMBL:ENSG00000213892", "HGNC:31948", "OMIM:614591", "UMLS:C1824693", "UniProtKB:Q2WEN9", "PR:Q2WEN9", "ENSEMBL:ENSP00000385576", "ENSEMBL:ENSP00000385576.1", "ENSEMBL:ENSP00000466561", "ENSEMBL:ENSP00000466561.1", "UMLS:C3181392", "MESH:C558358"], "information_content": 100.0}
{"id": "MONDO:0008490", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant", "equivalent_identifiers": ["MONDO:0008490", "DOID:0080677", "DOID:4258", "OMIM:184840", "orphanet:166100", "UMLS:C1848488", "UMLS:C1861481", "MESH:C535776", "MESH:C537494", "MEDDRA:10084415", "MEDDRA:10084425", "SNOMEDCT:699313003", "SNOMEDCT:783097004", "medgen:341234"], "information_content": 100.0}
{"id": "UniProtKB:Q8IWA5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "choline transporter-like protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IWA5-2", "PR:Q8IWA5-2", "ENSEMBL:ENSP00000466664", "ENSEMBL:ENSP00000466664.1"], "information_content": 100.0}
{"id": "NCBIGene:8153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RND2", "equivalent_identifiers": ["NCBIGene:8153", "ENSEMBL:ENSG00000108830", "HGNC:18315", "OMIM:601555", "UMLS:C1538856", "UniProtKB:P52198", "PR:P52198", "ENSEMBL:ENSP00000466680", "ENSEMBL:ENSP00000466680.1", "UMLS:C1700078", "MESH:C508704"], "information_content": 95.4}
{"id": "NCBIGene:80323", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC68", "equivalent_identifiers": ["NCBIGene:80323", "ENSEMBL:ENSG00000166510", "HGNC:24350", "OMIM:616909", "UMLS:C1824592", "UniProtKB:Q9H2F9", "PR:Q9H2F9", "ENSEMBL:ENSP00000337209", "ENSEMBL:ENSP00000337209.3", "ENSEMBL:ENSP00000413406", "ENSEMBL:ENSP00000413406.1", "ENSEMBL:ENSP00000466690", "ENSEMBL:ENSP00000466690.1", "UMLS:C4077698", "MESH:C000602811"], "information_content": 100.0}
{"id": "NCBIGene:344", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOC2", "equivalent_identifiers": ["NCBIGene:344", "ENSEMBL:ENSG00000234906", "HGNC:609", "OMIM:608083", "UMLS:C1412477", "UniProtKB:A0A024R0T9", "UniProtKB:P02655", "PR:P02655", "ENSEMBL:ENSP00000252490", "ENSEMBL:ENSP00000252490.5", "ENSEMBL:ENSP00000466775", "ENSEMBL:ENSP00000466775.1", "UMLS:C5780937"], "information_content": 87.2}
{"id": "NCBIGene:1340", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX6B1", "equivalent_identifiers": ["NCBIGene:1340", "ENSEMBL:ENSG00000126267", "HGNC:2280", "OMIM:124089", "UMLS:C1539128", "UniProtKB:P14854", "PR:P14854", "ENSEMBL:ENSP00000376037", "ENSEMBL:ENSP00000376037.2", "ENSEMBL:ENSP00000466818", "ENSEMBL:ENSP00000466818.2", "ENSEMBL:ENSP00000497926", "ENSEMBL:ENSP00000497926.1", "UMLS:C1738786", "MESH:C513775"], "information_content": 83.6}
{"id": "UniProtKB:K7EN88", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "K7EN88_HUMAN HCG2039718, isoform CRA_g (trembl)", "equivalent_identifiers": ["UniProtKB:K7EN88", "ENSEMBL:ENSP00000466834", "ENSEMBL:ENSP00000466834.1"]}
{"id": "UniProtKB:Q92947-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutaryl-CoA dehydrogenase, mitochondrial isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q92947-1", "PR:Q92947-1", "ENSEMBL:ENSP00000222214", "ENSEMBL:ENSP00000222214.4", "ENSEMBL:ENSP00000466845", "ENSEMBL:ENSP00000466845.1", "ENSEMBL:ENSP00000519365", "ENSEMBL:ENSP00000519365.1"], "information_content": 100.0}
{"id": "NCBIGene:2527", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FUT5", "equivalent_identifiers": ["NCBIGene:2527", "ENSEMBL:ENSG00000130383", "HGNC:4016", "OMIM:136835", "UMLS:C1414866", "UniProtKB:Q11128", "PR:Q11128", "ENSEMBL:ENSP00000252675", "ENSEMBL:ENSP00000252675.5", "ENSEMBL:ENSP00000466880", "ENSEMBL:ENSP00000466880.1", "UMLS:C2973794", "MESH:C553868"], "information_content": 100.0}
{"id": "UniProtKB:Q96GM1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid phosphatase-related protein type 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96GM1-2", "PR:Q96GM1-2", "ENSEMBL:ENSP00000466898", "ENSEMBL:ENSP00000466898.1"], "information_content": 100.0}
{"id": "NCBIGene:147807", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF524", "equivalent_identifiers": ["NCBIGene:147807", "ENSEMBL:ENSG00000171443", "HGNC:28322", "UMLS:C1428689", "UniProtKB:Q96C55", "PR:Q96C55", "ENSEMBL:ENSP00000301073", "ENSEMBL:ENSP00000301073.2", "ENSEMBL:ENSP00000466907", "ENSEMBL:ENSP00000466907.1"], "information_content": 100.0}
{"id": "UniProtKB:Q2V2M9-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FH1/FH2 domain-containing protein 3 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q2V2M9-4", "PR:Q2V2M9-4", "ENSEMBL:ENSP00000466937", "ENSEMBL:ENSP00000466937.1"], "information_content": 100.0}
{"id": "MONDO:0013191", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "focal segmental glomerulosclerosis 5", "equivalent_identifiers": ["MONDO:0013191", "DOID:0111130", "OMIM:613237", "UMLS:C2750475", "MESH:C567687", "medgen:413315"], "information_content": 100.0}
{"id": "NCBIGene:126374", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WTIP", "equivalent_identifiers": ["NCBIGene:126374", "ENSEMBL:ENSG00000142279", "HGNC:20964", "OMIM:614790", "UMLS:C1538114", "UniProtKB:A6NIX2", "PR:A6NIX2", "ENSEMBL:ENSP00000466953", "ENSEMBL:ENSP00000466953.2", "UMLS:C1451089", "MESH:C484859"], "information_content": 100.0}
{"id": "UniProtKB:Q9NXH9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tRNA (guanine(26)-N(2))-dimethyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXH9-1", "PR:Q9NXH9-1", "ENSEMBL:ENSP00000350352", "ENSEMBL:ENSP00000350352.4", "ENSEMBL:ENSP00000416149", "ENSEMBL:ENSP00000416149.1", "ENSEMBL:ENSP00000466967", "ENSEMBL:ENSP00000466967.1"], "information_content": 100.0}
{"id": "UniProtKB:P54725-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UV excision repair protein RAD23 homolog A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P54725-1", "PR:P54725-1", "ENSEMBL:ENSP00000467024", "ENSEMBL:ENSP00000467024.1"], "information_content": 100.0}
{"id": "UniProtKB:K7ENP7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "K7ENP7_HUMAN INO80 complex subunit C (trembl)", "equivalent_identifiers": ["UniProtKB:K7ENP7", "ENSEMBL:ENSP00000467041", "ENSEMBL:ENSP00000467041.1"]}
{"id": "UniProtKB:Q8WX94-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NACHT, LRR and PYD domains-containing protein 7 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8WX94-3", "PR:Q8WX94-3", "ENSEMBL:ENSP00000467123", "ENSEMBL:ENSP00000467123.1", "ENSEMBL:ENSP00000468706", "ENSEMBL:ENSP00000468706.1", "ENSEMBL:ENSP00000479459", "ENSEMBL:ENSP00000479459.1", "ENSEMBL:ENSP00000480226", "ENSEMBL:ENSP00000480226.1", "ENSEMBL:ENSP00000481395", "ENSEMBL:ENSP00000481395.1", "ENSEMBL:ENSP00000481452", "ENSEMBL:ENSP00000481452.1", "ENSEMBL:ENSP00000482194", "ENSEMBL:ENSP00000482194.1", "ENSEMBL:ENSP00000482551", "ENSEMBL:ENSP00000482551.1", "ENSEMBL:ENSP00000482887", "ENSEMBL:ENSP00000482887.1", "ENSEMBL:ENSP00000484426", "ENSEMBL:ENSP00000484426.1", "ENSEMBL:ENSP00000484808", "ENSEMBL:ENSP00000484808.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WZ42-12", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "titin isoform h12 (human)", "equivalent_identifiers": ["UniProtKB:Q8WZ42-12", "PR:Q8WZ42-12", "ENSEMBL:ENSP00000394672", "ENSEMBL:ENSP00000394672.2", "ENSEMBL:ENSP00000467141", "ENSEMBL:ENSP00000467141.1"], "information_content": 100.0}
{"id": "UniProtKB:P13805-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "troponin T, slow skeletal muscle isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P13805-1", "PR:P13805-1", "ENSEMBL:ENSP00000467176", "ENSEMBL:ENSP00000467176.1"], "information_content": 100.0}
{"id": "NCBIGene:10052", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJC1", "equivalent_identifiers": ["NCBIGene:10052", "ENSEMBL:ENSG00000182963", "HGNC:4280", "OMIM:608655", "UMLS:C1415074", "UniProtKB:P36383", "PR:P36383", "ENSEMBL:ENSP00000333193", "ENSEMBL:ENSP00000333193.3", "ENSEMBL:ENSP00000466339", "ENSEMBL:ENSP00000466339.1", "ENSEMBL:ENSP00000467201", "ENSEMBL:ENSP00000467201.1"], "information_content": 89.4}
{"id": "NCBIGene:148268", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF570", "equivalent_identifiers": ["NCBIGene:148268", "ENSEMBL:ENSG00000171827", "HGNC:26416", "UMLS:C1428583", "UniProtKB:K7EP39", "ENSEMBL:ENSP00000467218", "ENSEMBL:ENSP00000467218.1", "UniProtKB:Q96NI8", "PR:Q96NI8"]}
{"id": "NCBIGene:10975", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UQCR11", "equivalent_identifiers": ["NCBIGene:10975", "ENSEMBL:ENSG00000127540", "HGNC:30862", "OMIM:609711", "UMLS:C1540163", "UniProtKB:O14957", "PR:O14957", "ENSEMBL:ENSP00000466420", "ENSEMBL:ENSP00000466420.1", "ENSEMBL:ENSP00000467262", "ENSEMBL:ENSP00000467262.1", "ENSEMBL:ENSP00000467555", "ENSEMBL:ENSP00000467555.1"], "information_content": 95.4}
{"id": "UniProtKB:O94911-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ABC-type organic anion transporter ABCA8 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O94911-3", "PR:O94911-3", "ENSEMBL:ENSP00000467271", "ENSEMBL:ENSP00000467271.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3T3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "semaphorin-6B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3T3-1", "PR:Q9H3T3-1", "ENSEMBL:ENSP00000467290", "ENSEMBL:ENSP00000467290.1", "ENSEMBL:ENSP00000503414", "ENSEMBL:ENSP00000503414.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15424-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "scaffold attachment factor B1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q15424-3", "PR:Q15424-3", "ENSEMBL:ENSP00000467423", "ENSEMBL:ENSP00000467423.1"], "information_content": 100.0}
{"id": "UniProtKB:P48546-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gastric inhibitory polypeptide receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P48546-1", "PR:P48546-1", "ENSEMBL:ENSP00000467494", "ENSEMBL:ENSP00000467494.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13332-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "receptor-type tyrosine-protein phosphatase S isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13332-1", "PR:Q13332-1", "ENSEMBL:ENSP00000262963", "ENSEMBL:ENSP00000262963.8", "ENSEMBL:ENSP00000467537", "ENSEMBL:ENSP00000467537.1"], "information_content": 100.0}
{"id": "UniProtKB:Q969T9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WW domain-binding protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969T9-1", "PR:Q969T9-1", "ENSEMBL:ENSP00000254806", "ENSEMBL:ENSP00000254806.3", "ENSEMBL:ENSP00000467579", "ENSEMBL:ENSP00000467579.1"], "information_content": 100.0}
{"id": "UniProtKB:O43760-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptogyrin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O43760-2", "PR:O43760-2", "ENSEMBL:ENSP00000467600", "ENSEMBL:ENSP00000467600.1"], "information_content": 100.0}
{"id": "NCBIGene:768206", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRCD", "equivalent_identifiers": ["NCBIGene:768206", "ENSEMBL:ENSG00000214140", "HGNC:32528", "OMIM:610598", "UMLS:C1826694", "UniProtKB:Q00LT1", "PR:Q00LT1", "ENSEMBL:ENSP00000465932", "ENSEMBL:ENSP00000465932.1", "ENSEMBL:ENSP00000467661", "ENSEMBL:ENSP00000467661.1", "UMLS:C3711038", "MESH:C583558"], "information_content": 92.8}
{"id": "NCBIGene:374879", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF699", "equivalent_identifiers": ["NCBIGene:374879", "ENSEMBL:ENSG00000196110", "HGNC:24750", "OMIM:609571", "UMLS:C1823998", "UniProtKB:Q32M78", "PR:Q32M78", "ENSEMBL:ENSP00000311596", "ENSEMBL:ENSP00000311596.3", "ENSEMBL:ENSP00000467723", "ENSEMBL:ENSP00000467723.1", "UMLS:C1870404", "MESH:C515654"], "information_content": 100.0}
{"id": "UniProtKB:A6NC57-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 62 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NC57-1", "PR:A6NC57-1", "ENSEMBL:ENSP00000467740", "ENSEMBL:ENSP00000467740.2"], "information_content": 100.0}
{"id": "UniProtKB:Q63ZY3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "KN motif and ankyrin repeat domain-containing protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q63ZY3-2", "PR:Q63ZY3-2", "ENSEMBL:ENSP00000468002", "ENSEMBL:ENSP00000468002.1"], "information_content": 100.0}
{"id": "NCBIGene:84336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM101", "equivalent_identifiers": ["NCBIGene:84336", "ENSEMBL:ENSG00000091947", "HGNC:28653", "UMLS:C1823361", "UniProtKB:B4DFS4", "UniProtKB:Q96IK0", "PR:Q96IK0", "ENSEMBL:ENSP00000206380", "ENSEMBL:ENSP00000206380.3", "ENSEMBL:ENSP00000468025", "ENSEMBL:ENSP00000468025.1"], "information_content": 95.4}
{"id": "MONDO:0000548", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ovarian clear cell cancer", "equivalent_identifiers": ["MONDO:0000548", "DOID:0050934", "UMLS:C1518230", "NCIT:C40077", "medgen:276544"], "information_content": 86.3}
{"id": "UniProtKB:Q6SZW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NAD(+) hydrolase SARM1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6SZW1-1", "PR:Q6SZW1-1", "ENSEMBL:ENSP00000468032", "ENSEMBL:ENSP00000468032.2"], "information_content": 90.9}
{"id": "NCBIGene:4161", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MC5R", "equivalent_identifiers": ["NCBIGene:4161", "ENSEMBL:ENSG00000176136", "HGNC:6933", "OMIM:600042", "UMLS:C1417065", "UniProtKB:P33032", "PR:P33032", "ENSEMBL:ENSP00000318077", "ENSEMBL:ENSP00000318077.3", "ENSEMBL:ENSP00000468086", "ENSEMBL:ENSP00000468086.2"], "information_content": 95.4}
{"id": "UniProtKB:P0C7I6-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 159 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P0C7I6-2", "PR:P0C7I6-2", "ENSEMBL:ENSP00000402239", "ENSEMBL:ENSP00000402239.1", "ENSEMBL:ENSP00000468232", "ENSEMBL:ENSP00000468232.1"], "information_content": 100.0}
{"id": "NCBIGene:346", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APOC4", "equivalent_identifiers": ["NCBIGene:346", "ENSEMBL:ENSG00000267467", "HGNC:611", "OMIM:600745", "UMLS:C1412479", "UniProtKB:P55056", "PR:P55056", "ENSEMBL:ENSP00000468236", "ENSEMBL:ENSP00000468236.1", "UMLS:C1430347", "MESH:C097349"], "information_content": 92.8}
{"id": "NCBIGene:1675", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFD", "equivalent_identifiers": ["NCBIGene:1675", "ENSEMBL:ENSG00000197766", "HGNC:2771", "OMIM:134350", "UMLS:C1824729", "UniProtKB:A6XNE2", "UniProtKB:K7ERG9", "ENSEMBL:ENSP00000468253", "ENSEMBL:ENSP00000468253.1", "ENSEMBL:ENSP00000488580", "ENSEMBL:ENSP00000488580.1", "UniProtKB:P00746", "PR:P00746", "ENSEMBL:ENSP00000332139", "ENSEMBL:ENSP00000332139.4", "ENSEMBL:ENSP00000478745", "ENSEMBL:ENSP00000478745.1", "UMLS:C1453864", "MESH:C493488"]}
{"id": "UniProtKB:Q05BQ5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MBT domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q05BQ5-1", "PR:Q05BQ5-1", "ENSEMBL:ENSP00000403946", "ENSEMBL:ENSP00000403946.1", "ENSEMBL:ENSP00000468304", "ENSEMBL:ENSP00000468304.1"], "information_content": 100.0}
{"id": "NCBIGene:54757", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM20A", "equivalent_identifiers": ["NCBIGene:54757", "ENSEMBL:ENSG00000108950", "HGNC:23015", "OMIM:611062", "UMLS:C1427851", "UniProtKB:B7Z4Y3", "UMLS:C3491622", "MESH:C571509", "UniProtKB:L8B8N7", "UniProtKB:Q8IYA5", "UniProtKB:Q96MK3", "PR:Q96MK3", "ENSEMBL:ENSP00000468308", "ENSEMBL:ENSP00000468308.1"], "information_content": 89.4}
{"id": "MONDO:0008770", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta type 1C", "equivalent_identifiers": ["MONDO:0008770", "DOID:0110056", "OMIM:204650", "UMLS:C2673923", "MESH:C567147", "medgen:388763"], "information_content": 100.0}
{"id": "MONDO:0014385", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta hypomaturation type 2A5", "equivalent_identifiers": ["MONDO:0014385", "DOID:0110063", "OMIM:615887", "UMLS:C4014578", "medgen:863015"], "information_content": 100.0}
{"id": "UniProtKB:O95834-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "echinoderm microtubule-associated protein-like 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O95834-3", "PR:O95834-3", "ENSEMBL:ENSP00000468312", "ENSEMBL:ENSP00000468312.1"], "information_content": 100.0}
{"id": "MONDO:0012513", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "maturity-onset diabetes of the young type 7", "equivalent_identifiers": ["MONDO:0012513", "DOID:0111106", "OMIM:610508", "UMLS:C1864839", "MESH:C566466", "SNOMEDCT:609574004", "medgen:351232"], "information_content": 100.0}
{"id": "UniProtKB:P52564-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dual specificity mitogen-activated protein kinase kinase 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P52564-1", "PR:P52564-1", "ENSEMBL:ENSP00000468348", "ENSEMBL:ENSP00000468348.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N6D5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 29 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N6D5-1", "PR:Q8N6D5-1", "ENSEMBL:ENSP00000468354", "ENSEMBL:ENSP00000468354.1"], "information_content": 100.0}
{"id": "UniProtKB:Q496M5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive serine/threonine-protein kinase PLK5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q496M5-1", "PR:Q496M5-1", "ENSEMBL:ENSP00000466248", "ENSEMBL:ENSP00000466248.1", "ENSEMBL:ENSP00000468376", "ENSEMBL:ENSP00000468376.1", "ENSEMBL:ENSP00000501198", "ENSEMBL:ENSP00000501198.1"], "information_content": 100.0}
{"id": "NCBIGene:55851", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSENEN", "equivalent_identifiers": ["NCBIGene:55851", "ENSEMBL:ENSG00000205155", "HGNC:30100", "OMIM:607632", "UMLS:C1538738", "UniProtKB:Q9NZ42", "PR:Q9NZ42", "ENSEMBL:ENSP00000222266", "ENSEMBL:ENSP00000222266.1", "ENSEMBL:ENSP00000468411", "ENSEMBL:ENSP00000468411.1", "UMLS:C1172689", "UMLS:C3537462", "MESH:C469349"], "information_content": 90.9}
{"id": "UniProtKB:P30419-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycylpeptide N-tetradecanoyltransferase 1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P30419-1", "PR:P30419-1", "ENSEMBL:ENSP00000258960", "ENSEMBL:ENSP00000258960.2", "ENSEMBL:ENSP00000468424", "ENSEMBL:ENSP00000468424.1", "ENSEMBL:ENSP00000504192", "ENSEMBL:ENSP00000504192.1"], "information_content": 100.0}
{"id": "NCBIGene:7083", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TK1", "equivalent_identifiers": ["NCBIGene:7083", "ENSEMBL:ENSG00000167900", "HGNC:11830", "OMIM:188300", "UMLS:C1420747", "UniProtKB:A0A384MDV9", "UniProtKB:K7ERV3", "ENSEMBL:ENSP00000468425", "ENSEMBL:ENSP00000468425.1", "UniProtKB:K7ES52", "ENSEMBL:ENSP00000468556", "ENSEMBL:ENSP00000468556.1", "UniProtKB:P04183", "PR:P04183", "ENSEMBL:ENSP00000301634", "ENSEMBL:ENSP00000301634.6", "UMLS:C1522555"]}
{"id": "UniProtKB:Q9H6U6-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BCAS3 microtubule associated cell migration factor isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6U6-8", "PR:Q9H6U6-8", "ENSEMBL:ENSP00000468592", "ENSEMBL:ENSP00000468592.1"], "information_content": 100.0}
{"id": "NCBIGene:90701", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEC11C", "equivalent_identifiers": ["NCBIGene:90701", "ENSEMBL:ENSG00000166562", "HGNC:23400", "UMLS:C1539742", "UniProtKB:K7EJQ7", "ENSEMBL:ENSP00000465281", "ENSEMBL:ENSP00000465281.1", "UMLS:C5564997", "MESH:C000720736", "UniProtKB:Q9BY50", "PR:Q9BY50", "ENSEMBL:ENSP00000468633", "ENSEMBL:ENSP00000468633.1", "ENSEMBL:ENSP00000520518", "ENSEMBL:ENSP00000520518.1"], "information_content": 90.9}
{"id": "NCBIGene:7675", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF121", "equivalent_identifiers": ["NCBIGene:7675", "ENSEMBL:ENSG00000197961", "HGNC:12904", "OMIM:194628", "UMLS:C1421612", "UniProtKB:P58317", "PR:P58317", "ENSEMBL:ENSP00000326967", "ENSEMBL:ENSP00000326967.5", "ENSEMBL:ENSP00000468643", "ENSEMBL:ENSP00000468643.1", "UMLS:C4548123", "MESH:C000623405"], "information_content": 89.4}
{"id": "UniProtKB:Q7Z736-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pleckstrin homology domain-containing family H member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z736-1", "PR:Q7Z736-1", "ENSEMBL:ENSP00000468678", "ENSEMBL:ENSP00000468678.1"], "information_content": 100.0}
{"id": "MONDO:0006471", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tracheal adenoid cystic carcinoma", "equivalent_identifiers": ["MONDO:0006471", "DOID:4875", "EFO:1000598", "UMLS:C0345945", "MEDDRA:10081152", "NCIT:C6051", "SNOMEDCT:254619006", "medgen:91058"], "information_content": 100.0}
{"id": "UniProtKB:O75346-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 253 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75346-1", "PR:O75346-1", "ENSEMBL:ENSP00000468720", "ENSEMBL:ENSP00000468720.1"], "information_content": 100.0}
{"id": "NCBIGene:125988", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MICOS13", "equivalent_identifiers": ["NCBIGene:125988", "ENSEMBL:ENSG00000174917", "HGNC:33702", "OMIM:616658", "UMLS:C2681313", "UniProtKB:A0A140TA84", "ENSEMBL:ENSP00000465739", "ENSEMBL:ENSP00000465739.1", "UMLS:C4548185", "MESH:C000621991", "UniProtKB:A0A140TA86", "ENSEMBL:ENSP00000468723", "ENSEMBL:ENSP00000468723.1", "UniProtKB:Q5XKP0", "PR:Q5XKP0", "ENSEMBL:ENSP00000309561", "ENSEMBL:ENSP00000309561.3"]}
{"id": "NCBIGene:201501", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZBTB7C", "equivalent_identifiers": ["NCBIGene:201501", "ENSEMBL:ENSG00000184828", "HGNC:31700", "OMIM:616591", "UMLS:C1538145", "UniProtKB:A1YPR0", "PR:A1YPR0", "ENSEMBL:ENSP00000439781", "ENSEMBL:ENSP00000439781.1", "ENSEMBL:ENSP00000467877", "ENSEMBL:ENSP00000467877.1", "ENSEMBL:ENSP00000468254", "ENSEMBL:ENSP00000468254.1", "ENSEMBL:ENSP00000468782", "ENSEMBL:ENSP00000468782.1", "UMLS:C0670980", "MESH:C110461", "UniProtKB:B2RG49"], "information_content": 92.8}
{"id": "UniProtKB:Q9UIS9-12", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "methyl-CpG-binding domain protein 1 isoform h12 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIS9-12", "PR:Q9UIS9-12", "ENSEMBL:ENSP00000468785", "ENSEMBL:ENSP00000468785.1"], "information_content": 100.0}
{"id": "NCBIGene:2358", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FPR2", "equivalent_identifiers": ["NCBIGene:2358", "ENSEMBL:ENSG00000171049", "HGNC:3827", "OMIM:136538", "UMLS:C1414691", "UniProtKB:P25090", "PR:P25090", "ENSEMBL:ENSP00000340191", "ENSEMBL:ENSP00000340191.4", "ENSEMBL:ENSP00000468876", "ENSEMBL:ENSP00000468876.1", "ENSEMBL:ENSP00000468897", "ENSEMBL:ENSP00000468897.1", "UMLS:C0537254", "MESH:C105101"], "information_content": 95.4}
{"id": "UniProtKB:Q9UGK3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal-transducing adaptor protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UGK3-2", "PR:Q9UGK3-2", "ENSEMBL:ENSP00000468927", "ENSEMBL:ENSP00000468927.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TAC2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "josephin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TAC2-1", "PR:Q8TAC2-1", "ENSEMBL:ENSP00000468956", "ENSEMBL:ENSP00000468956.2", "ENSEMBL:ENSP00000472116", "ENSEMBL:ENSP00000472116.1"], "information_content": 100.0}
{"id": "NCBIGene:51398", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR83OS", "equivalent_identifiers": ["NCBIGene:51398", "ENSEMBL:ENSG00000105583", "HGNC:30203", "OMIM:618474", "UMLS:C3470245", "UniProtKB:Q9Y284", "PR:Q9Y284", "ENSEMBL:ENSP00000468969", "ENSEMBL:ENSP00000468969.1", "UMLS:C5433637", "MESH:C000711375"], "information_content": 92.8}
{"id": "NCBIGene:401612", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A53", "equivalent_identifiers": ["NCBIGene:401612", "ENSEMBL:ENSG00000269743", "HGNC:31894", "OMIM:300941", "UMLS:C3469822", "UniProtKB:Q5H9E4", "PR:Q5H9E4", "ENSEMBL:ENSP00000468980", "ENSEMBL:ENSP00000468980.1"], "information_content": 100.0}
{"id": "UniProtKB:O60224-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SSX4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60224-1", "PR:O60224-1", "ENSEMBL:ENSP00000469011", "ENSEMBL:ENSP00000469011.1", "ENSEMBL:ENSP00000469394", "ENSEMBL:ENSP00000469394.1"], "information_content": 100.0}
{"id": "NCBIGene:11316", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COPE", "equivalent_identifiers": ["NCBIGene:11316", "ENSEMBL:ENSG00000105669", "HGNC:2234", "OMIM:606942", "UMLS:C1413608", "UniProtKB:M0QXB4", "ENSEMBL:ENSP00000469035", "ENSEMBL:ENSP00000469035.1", "UniProtKB:O14579", "PR:O14579"]}
{"id": "MONDO:0002910", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "peroneal neuropathy", "equivalent_identifiers": ["MONDO:0002910", "DOID:4201", "UMLS:C0747533", "MESH:D020427", "NCIT:C27596", "medgen:148182"], "information_content": 100.0}
{"id": "MONDO:0015000", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 48", "equivalent_identifiers": ["MONDO:0015000", "DOID:0080448", "OMIM:617276", "UMLS:C4310637", "medgen:934604"], "information_content": 100.0}
{"id": "UniProtKB:O43557-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor ligand superfamily member 14 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43557-1", "PR:O43557-1", "ENSEMBL:ENSP00000469049", "ENSEMBL:ENSP00000469049.1", "ENSEMBL:ENSP00000502837", "ENSEMBL:ENSP00000502837.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99742-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronal PAS domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99742-1", "PR:Q99742-1", "ENSEMBL:ENSP00000405290", "ENSEMBL:ENSP00000405290.1", "ENSEMBL:ENSP00000469142", "ENSEMBL:ENSP00000469142.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRA0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sphingosine kinase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRA0-1", "PR:Q9NRA0-1", "ENSEMBL:ENSP00000245222", "ENSEMBL:ENSP00000245222.3", "ENSEMBL:ENSP00000469158", "ENSEMBL:ENSP00000469158.1"], "information_content": 100.0}
{"id": "NCBIGene:2014", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EMP3", "equivalent_identifiers": ["NCBIGene:2014", "ENSEMBL:ENSG00000142227", "HGNC:3335", "OMIM:602335", "UMLS:C1414389", "UniProtKB:P54852", "PR:P54852", "ENSEMBL:ENSP00000270221", "ENSEMBL:ENSP00000270221.5", "ENSEMBL:ENSP00000469194", "ENSEMBL:ENSP00000469194.1", "ENSEMBL:ENSP00000520862", "ENSEMBL:ENSP00000520862.1", "UMLS:C1430492", "MESH:C485157"], "information_content": 95.4}
{"id": "NCBIGene:27243", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHMP2A", "equivalent_identifiers": ["NCBIGene:27243", "ENSEMBL:ENSG00000130724", "HGNC:30216", "OMIM:610893", "UMLS:C1538455", "UniProtKB:M0R1T5", "ENSEMBL:ENSP00000472097", "ENSEMBL:ENSP00000472097.2", "UMLS:C1700628", "MESH:C507674", "UniProtKB:O43633", "PR:O43633", "ENSEMBL:ENSP00000310440", "ENSEMBL:ENSP00000310440.1", "ENSEMBL:ENSP00000469240", "ENSEMBL:ENSP00000469240.1", "ENSEMBL:ENSP00000469453", "ENSEMBL:ENSP00000469453.2", "ENSEMBL:ENSP00000471961", "ENSEMBL:ENSP00000471961.2", "ENSEMBL:ENSP00000472680", "ENSEMBL:ENSP00000472680.1", "UMLS:C1332383"], "information_content": 90.9}
{"id": "UniProtKB:Q9H254-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spectrin beta chain, non-erythrocytic 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H254-1", "PR:Q9H254-1", "ENSEMBL:ENSP00000263373", "ENSEMBL:ENSP00000263373.2", "ENSEMBL:ENSP00000469242", "ENSEMBL:ENSP00000469242.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H2R5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kallikrein-15 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2R5-1", "PR:Q9H2R5-1", "ENSEMBL:ENSP00000469315", "ENSEMBL:ENSP00000469315.1"], "information_content": 100.0}
{"id": "NCBIGene:55879", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GABRQ", "equivalent_identifiers": ["NCBIGene:55879", "ENSEMBL:ENSG00000268089", "HGNC:14454", "OMIM:300349", "UMLS:C1422662", "UniProtKB:Q9UN88", "PR:Q9UN88", "ENSEMBL:ENSP00000469332", "ENSEMBL:ENSP00000469332.1", "UMLS:C3254055", "MESH:C561870"], "information_content": 92.8}
{"id": "NCBIGene:220416", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC63", "equivalent_identifiers": ["NCBIGene:220416", "ENSEMBL:ENSG00000173988", "HGNC:34296", "UMLS:C2681645", "UniProtKB:A0A6Q8PFF0", "ENSEMBL:ENSP00000501788", "ENSEMBL:ENSP00000501788.1", "UniProtKB:Q05C16", "PR:Q05C16", "ENSEMBL:ENSP00000469337", "ENSEMBL:ENSP00000469337.1"], "information_content": 100.0}
{"id": "NCBIGene:342926", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF677", "equivalent_identifiers": ["NCBIGene:342926", "ENSEMBL:ENSG00000197928", "HGNC:28730", "UMLS:C1538240", "UniProtKB:M0QYA4", "ENSEMBL:ENSP00000469701", "ENSEMBL:ENSP00000469701.1", "UniProtKB:M0R079", "ENSEMBL:ENSP00000471071", "ENSEMBL:ENSP00000471071.1", "UniProtKB:M0R1V2", "ENSEMBL:ENSP00000472132", "ENSEMBL:ENSP00000472132.1", "UniProtKB:Q86XU0", "PR:Q86XU0", "ENSEMBL:ENSP00000334394", "ENSEMBL:ENSP00000334394.4", "ENSEMBL:ENSP00000469391", "ENSEMBL:ENSP00000469391.1", "UMLS:C5226788", "MESH:C000654197"], "information_content": 100.0}
{"id": "UniProtKB:O96013-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase PAK 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O96013-1", "PR:O96013-1", "ENSEMBL:ENSP00000351049", "ENSEMBL:ENSP00000351049.2", "ENSEMBL:ENSP00000353625", "ENSEMBL:ENSP00000353625.3", "ENSEMBL:ENSP00000469413", "ENSEMBL:ENSP00000469413.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9UKQ9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kallikrein-9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKQ9-1", "PR:Q9UKQ9-1", "ENSEMBL:ENSP00000469417", "ENSEMBL:ENSP00000469417.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UL41-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paraneoplastic antigen Ma3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UL41-1", "PR:Q9UL41-1", "ENSEMBL:ENSP00000390576", "ENSEMBL:ENSP00000390576.1", "ENSEMBL:ENSP00000469445", "ENSEMBL:ENSP00000469445.1"], "information_content": 100.0}
{"id": "NCBIGene:4909", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NTF4", "equivalent_identifiers": ["NCBIGene:4909", "ENSEMBL:ENSG00000225950", "HGNC:8024", "OMIM:162662", "UMLS:C1417863", "UniProtKB:P34130", "PR:P34130", "ENSEMBL:ENSP00000469455", "ENSEMBL:ENSP00000469455.1", "ENSEMBL:ENSP00000471508", "ENSEMBL:ENSP00000471508.2", "ENSEMBL:ENSP00000512384", "ENSEMBL:ENSP00000512384.1", "ENSEMBL:ENSP00000512385", "ENSEMBL:ENSP00000512385.1", "ENSEMBL:ENSP00000512386", "ENSEMBL:ENSP00000512386.1", "ENSEMBL:ENSP00000512387", "ENSEMBL:ENSP00000512387.1", "ENSEMBL:ENSP00000512388", "ENSEMBL:ENSP00000512388.1"], "information_content": 100.0}
{"id": "NCBIGene:25804", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LSM4", "equivalent_identifiers": ["NCBIGene:25804", "ENSEMBL:ENSG00000130520", "HGNC:17259", "OMIM:607284", "UMLS:C1424855", "UniProtKB:Q9Y4Z0", "PR:Q9Y4Z0", "ENSEMBL:ENSP00000469468", "ENSEMBL:ENSP00000469468.2", "UMLS:C1436800", "MESH:C485751", "UniProtKB:U3KQK1", "ENSEMBL:ENSP00000475950", "ENSEMBL:ENSP00000475950.1"], "information_content": 92.8}
{"id": "NCBIGene:56936", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC177", "equivalent_identifiers": ["NCBIGene:56936", "ENSEMBL:ENSG00000267909", "HGNC:23243", "UMLS:C1428015", "UniProtKB:Q9NQR7", "PR:Q9NQR7", "ENSEMBL:ENSP00000469474", "ENSEMBL:ENSP00000469474.1"], "information_content": 100.0}
{"id": "NCBIGene:100287226", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF729", "equivalent_identifiers": ["NCBIGene:100287226", "ENSEMBL:ENSG00000196350", "HGNC:32464", "UMLS:C1824029", "UniProtKB:A6NN14", "PR:A6NN14", "ENSEMBL:ENSP00000469582", "ENSEMBL:ENSP00000469582.1"], "information_content": 95.4}
{"id": "UniProtKB:P49771-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fms-related tyrosine kinase 3 ligand isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49771-1", "PR:P49771-1", "ENSEMBL:ENSP00000468977", "ENSEMBL:ENSP00000468977.1", "ENSEMBL:ENSP00000469613", "ENSEMBL:ENSP00000469613.1", "ENSEMBL:ENSP00000470453", "ENSEMBL:ENSP00000470453.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96KS0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prolyl hydroxylase EGLN2 isoform hp43 (human)", "equivalent_identifiers": ["UniProtKB:Q96KS0-1", "PR:Q96KS0-1", "ENSEMBL:ENSP00000307080", "ENSEMBL:ENSP00000307080.3", "ENSEMBL:ENSP00000385253", "ENSEMBL:ENSP00000385253.1", "ENSEMBL:ENSP00000469686", "ENSEMBL:ENSP00000469686.1"], "information_content": 100.0}
{"id": "UniProtKB:Q08493-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3',5'-cyclic-AMP phosphodiesterase 4C isoform hPDE4C1 (human)", "equivalent_identifiers": ["UniProtKB:Q08493-1", "PR:Q08493-1", "ENSEMBL:ENSP00000469696", "ENSEMBL:ENSP00000469696.1", "ENSEMBL:ENSP00000470210", "ENSEMBL:ENSP00000470210.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3SXY7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3SXY7-1", "PR:Q3SXY7-1", "ENSEMBL:ENSP00000469759", "ENSEMBL:ENSP00000469759.1"], "information_content": 100.0}
{"id": "UniProtKB:Q567V2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Mpv17-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q567V2-1", "PR:Q567V2-1", "ENSEMBL:ENSP00000469836", "ENSEMBL:ENSP00000469836.2"], "information_content": 100.0}
{"id": "NCBIGene:9149", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DYRK1B", "equivalent_identifiers": ["NCBIGene:9149", "ENSEMBL:ENSG00000105204", "HGNC:3092", "OMIM:604556", "UMLS:C1414205", "UniProtKB:A0A9H4CVU7", "ENSEMBL:ENSP00000469863", "ENSEMBL:ENSP00000469863.2", "UniProtKB:Q9Y463", "PR:Q9Y463", "UMLS:C1570747", "MESH:C000728258"]}
{"id": "MONDO:0000816", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "abdominal obesity-metabolic syndrome", "equivalent_identifiers": ["MONDO:0000816", "DOID:0060611", "OMIM.PS:605552", "UMLS:C0524620", "UMLS:C2930930", "MESH:C535554", "MEDDRA:10052066", "MEDDRA:10052070", "MEDDRA:10082306", "NCIT:C84442", "medgen:419670"], "information_content": 88.2}
{"id": "NCBIGene:284402", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCGB2B2", "equivalent_identifiers": ["NCBIGene:284402", "ENSEMBL:ENSG00000205209", "HGNC:27616", "OMIM:615063", "UMLS:C3469679", "UniProtKB:Q4G0G5", "PR:Q4G0G5", "ENSEMBL:ENSP00000368502", "ENSEMBL:ENSP00000368502.2", "ENSEMBL:ENSP00000469876", "ENSEMBL:ENSP00000469876.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IV63-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase VRK3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IV63-1", "PR:Q8IV63-1", "ENSEMBL:ENSP00000324636", "ENSEMBL:ENSP00000324636.2", "ENSEMBL:ENSP00000469880", "ENSEMBL:ENSP00000469880.1", "ENSEMBL:ENSP00000473171", "ENSEMBL:ENSP00000473171.1"], "information_content": 100.0}
{"id": "UniProtKB:Q68DY1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 626 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68DY1-1", "PR:Q68DY1-1", "ENSEMBL:ENSP00000469958", "ENSEMBL:ENSP00000469958.1"], "information_content": 100.0}
{"id": "NCBIGene:101060233", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OPN1MW3", "equivalent_identifiers": ["NCBIGene:101060233", "ENSEMBL:ENSG00000269433", "HGNC:51831", "UMLS:C4085062", "UniProtKB:P0DN78", "PR:P0DN78", "ENSEMBL:ENSP00000469970", "ENSEMBL:ENSP00000469970.1"], "information_content": 100.0}
{"id": "UniProtKB:Q16635-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tafazzin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16635-1", "PR:Q16635-1", "ENSEMBL:ENSP00000469981", "ENSEMBL:ENSP00000469981.1"], "information_content": 100.0}
{"id": "UniProtKB:M0QYT0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M0QYT0_HUMAN RRM domain-containing protein (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:M0QYT0", "ENSEMBL:ENSP00000470059", "ENSEMBL:ENSP00000470059.1", "ENSEMBL:ENSP00000489028", "ENSEMBL:ENSP00000489028.1"]}
{"id": "UniProtKB:M0QYU9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M0QYU9_HUMAN Small integral membrane protein 7 (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:M0QYU9", "ENSEMBL:ENSP00000470086", "ENSEMBL:ENSP00000470086.1"]}
{"id": "MONDO:0850154", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tongue carcinoma", "equivalent_identifiers": ["MONDO:0850154", "DOID:0080641", "UMLS:C0558353", "MEDDRA:10007459", "NCIT:C4824", "SNOMEDCT:269516007", "medgen:154320"], "information_content": 79.9}
{"id": "UniProtKB:M0QYV0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M0QYV0_HUMAN Protein kinase domain-containing protein (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:M0QYV0", "ENSEMBL:ENSP00000470087", "ENSEMBL:ENSP00000470087.1"]}
{"id": "UniProtKB:Q8TBC5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and SCAN domain-containing protein 18 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8TBC5-3", "PR:Q8TBC5-3", "ENSEMBL:ENSP00000470123", "ENSEMBL:ENSP00000470123.1"], "information_content": 100.0}
{"id": "UniProtKB:Q16674-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanoma-derived growth regulatory protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q16674-1", "PR:Q16674-1", "ENSEMBL:ENSP00000263369", "ENSEMBL:ENSP00000263369.2", "ENSEMBL:ENSP00000469499", "ENSEMBL:ENSP00000469499.1", "ENSEMBL:ENSP00000470129", "ENSEMBL:ENSP00000470129.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92900-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of nonsense transcripts 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q92900-1", "PR:Q92900-1", "ENSEMBL:ENSP00000470142", "ENSEMBL:ENSP00000470142.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4J8-15", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dystrobrevin alpha isoform h15 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4J8-15", "PR:Q9Y4J8-15", "ENSEMBL:ENSP00000470152", "ENSEMBL:ENSP00000470152.1"], "information_content": 100.0}
{"id": "NCBIGene:1175", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AP2S1", "equivalent_identifiers": ["NCBIGene:1175", "ENSEMBL:ENSG00000042753", "HGNC:565", "OMIM:602242", "UMLS:C1412445", "UniProtKB:M0QYZ2", "ENSEMBL:ENSP00000470176", "ENSEMBL:ENSP00000470176.1", "UMLS:C1312206", "MESH:C510065", "UniProtKB:M0R0N4", "ENSEMBL:ENSP00000471340", "ENSEMBL:ENSP00000471340.1", "UniProtKB:P53680", "PR:P53680", "UniProtKB:X6R390", "ENSEMBL:ENSP00000263271", "ENSEMBL:ENSP00000263271.6"]}
{"id": "MONDO:0012463", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 35", "equivalent_identifiers": ["MONDO:0012463", "DOID:0110357", "OMIM:610282", "UMLS:C1853214", "MESH:C565206", "medgen:339931"], "information_content": 100.0}
{"id": "NCBIGene:541466", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CT45A1", "equivalent_identifiers": ["NCBIGene:541466", "ENSEMBL:ENSG00000268940", "HGNC:33267", "OMIM:300648", "UMLS:C1970854", "UniProtKB:Q5HYN5", "PR:Q5HYN5", "ENSEMBL:ENSP00000470185", "ENSEMBL:ENSP00000470185.2", "ENSEMBL:ENSP00000472303", "ENSEMBL:ENSP00000472303.1", "UMLS:C1611908", "MESH:C502804"], "information_content": 100.0}
{"id": "UniProtKB:P61018-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-4B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61018-1", "PR:P61018-1", "ENSEMBL:ENSP00000349560", "ENSEMBL:ENSP00000349560.2", "ENSEMBL:ENSP00000470246", "ENSEMBL:ENSP00000470246.1"], "information_content": 100.0}
{"id": "UniProtKB:O43900-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prickle planar cell polarity protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43900-1", "PR:O43900-1", "ENSEMBL:ENSP00000470248", "ENSEMBL:ENSP00000470248.1"], "information_content": 100.0}
{"id": "UniProtKB:O00267-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription elongation factor SPT5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O00267-1", "PR:O00267-1", "ENSEMBL:ENSP00000404029", "ENSEMBL:ENSP00000404029.4", "ENSEMBL:ENSP00000469090", "ENSEMBL:ENSP00000469090.1", "ENSEMBL:ENSP00000470252", "ENSEMBL:ENSP00000470252.1"], "information_content": 100.0}
{"id": "NCBIGene:126003", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRAPPC5", "equivalent_identifiers": ["NCBIGene:126003", "ENSEMBL:ENSG00000181029", "HGNC:23067", "UMLS:C1427888", "UniProtKB:Q8IUR0", "PR:Q8IUR0", "ENSEMBL:ENSP00000316990", "ENSEMBL:ENSP00000316990.4", "ENSEMBL:ENSP00000399025", "ENSEMBL:ENSP00000399025.1", "ENSEMBL:ENSP00000470262", "ENSEMBL:ENSP00000470262.1", "UMLS:C1683930", "MESH:C506760"], "information_content": 89.4}
{"id": "UniProtKB:M0QZ92", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M0QZ92_HUMAN SEC7 domain-containing protein (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:M0QZ92", "ENSEMBL:ENSP00000470383", "ENSEMBL:ENSP00000470383.1"]}
{"id": "NCBIGene:646862", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RNF225", "equivalent_identifiers": ["NCBIGene:646862", "ENSEMBL:ENSG00000269855", "HGNC:51249", "UMLS:C3890122", "UniProtKB:M0QZC1", "PR:M0QZC1", "ENSEMBL:ENSP00000470441", "ENSEMBL:ENSP00000470441.2"], "information_content": 100.0}
{"id": "UniProtKB:P49862-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kallikrein-7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49862-1", "PR:P49862-1", "ENSEMBL:ENSP00000375683", "ENSEMBL:ENSP00000375683.1", "ENSEMBL:ENSP00000470538", "ENSEMBL:ENSP00000470538.1"], "information_content": 100.0}
{"id": "NCBIGene:100131801", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PET100", "equivalent_identifiers": ["NCBIGene:100131801", "ENSEMBL:ENSG00000229833", "HGNC:40038", "OMIM:614770", "UMLS:C3541664", "UniProtKB:P0DJ07", "PR:P0DJ07", "ENSEMBL:ENSP00000470539", "ENSEMBL:ENSP00000470539.1", "UMLS:C3849285", "MESH:C587424"], "information_content": 100.0}
{"id": "MONDO:0014688", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "short-rib thoracic dysplasia 14 with polydactyly", "equivalent_identifiers": ["MONDO:0014688", "DOID:0110096", "OMIM:616546", "UMLS:C4225286", "medgen:901479"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKR3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kallikrein-13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKR3-1", "PR:Q9UKR3-1", "ENSEMBL:ENSP00000470555", "ENSEMBL:ENSP00000470555.1"], "information_content": 100.0}
{"id": "NCBIGene:10436", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EMG1", "equivalent_identifiers": ["NCBIGene:10436", "ENSEMBL:ENSG00000126749", "HGNC:16912", "OMIM:611531", "UMLS:C1825050", "UniProtKB:Q92979", "PR:Q92979", "ENSEMBL:ENSP00000470560", "ENSEMBL:ENSP00000470560.1", "UMLS:C2933759", "MESH:C549212"], "information_content": 90.9}
{"id": "NCBIGene:494119", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPANXN2", "equivalent_identifiers": ["NCBIGene:494119", "ENSEMBL:ENSG00000268988", "HGNC:33175", "OMIM:300665", "UMLS:C1823085", "UniProtKB:Q5MJ10", "PR:Q5MJ10", "ENSEMBL:ENSP00000470584", "ENSEMBL:ENSP00000470584.1", "UMLS:C1958304", "UMLS:C2985382", "MESH:C521019"], "information_content": 100.0}
{"id": "UniProtKB:M0QZK8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M0QZK8_HUMAN gamma-glutamylcyclotransferase (trembl)", "equivalent_identifiers": ["UniProtKB:M0QZK8", "ENSEMBL:ENSP00000470615", "ENSEMBL:ENSP00000470615.1"]}
{"id": "UniProtKB:Q96K37-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 35 member E1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96K37-1", "PR:Q96K37-1", "ENSEMBL:ENSP00000470652", "ENSEMBL:ENSP00000470652.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZN19-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 841 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZN19-3", "PR:Q6ZN19-3", "ENSEMBL:ENSP00000374185", "ENSEMBL:ENSP00000374185.4", "ENSEMBL:ENSP00000470100", "ENSEMBL:ENSP00000470100.2", "ENSEMBL:ENSP00000470746", "ENSEMBL:ENSP00000470746.1"], "information_content": 100.0}
{"id": "UniProtKB:P42701-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-12 receptor subunit beta-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P42701-1", "PR:P42701-1", "ENSEMBL:ENSP00000470788", "ENSEMBL:ENSP00000470788.1", "ENSEMBL:ENSP00000472165", "ENSEMBL:ENSP00000472165.2"], "information_content": 100.0}
{"id": "NCBIGene:11254", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC6A14", "equivalent_identifiers": ["NCBIGene:11254", "ENSEMBL:ENSG00000268104", "HGNC:11047", "OMIM:300444", "UMLS:C1420211", "UniProtKB:B2R8J1", "UMLS:C1609874", "MESH:C503995", "UniProtKB:Q9UN76", "PR:Q9UN76", "ENSEMBL:ENSP00000470801", "ENSEMBL:ENSP00000470801.1"], "information_content": 100.0}
{"id": "NCBIGene:94027", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CGB7", "equivalent_identifiers": ["NCBIGene:94027", "ENSEMBL:ENSG00000196337", "HGNC:16451", "OMIM:608826", "UMLS:C1424290", "UniProtKB:P0DN87", "PR:P0DN87", "ENSEMBL:ENSP00000469076", "ENSEMBL:ENSP00000469076.1", "ENSEMBL:ENSP00000470813", "ENSEMBL:ENSP00000470813.1", "ENSEMBL:ENSP00000507822", "ENSEMBL:ENSP00000507822.1"], "information_content": 100.0}
{"id": "NCBIGene:25789", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM59L", "equivalent_identifiers": ["NCBIGene:25789", "ENSEMBL:ENSG00000105696", "HGNC:13237", "OMIM:617096", "UMLS:C1421896", "UniProtKB:Q9UK28", "PR:Q9UK28", "ENSEMBL:ENSP00000262817", "ENSEMBL:ENSP00000262817.3", "ENSEMBL:ENSP00000470879", "ENSEMBL:ENSP00000470879.1", "UMLS:C1309406", "MESH:C404908"], "information_content": 100.0}
{"id": "UniProtKB:M0R036", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M0R036_HUMAN KRAB domain-containing protein (trembl)", "equivalent_identifiers": ["UniProtKB:M0R036", "ENSEMBL:ENSP00000470969", "ENSEMBL:ENSP00000470969.1"]}
{"id": "NCBIGene:6223", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS19", "equivalent_identifiers": ["NCBIGene:6223", "ENSEMBL:ENSG00000105372", "HGNC:10402", "OMIM:603474", "UMLS:C1335641", "UniProtKB:B0ZBD0", "UniProtKB:P39019", "PR:P39019", "ENSEMBL:ENSP00000469228", "ENSEMBL:ENSP00000469228.2", "ENSEMBL:ENSP00000470004", "ENSEMBL:ENSP00000470004.1", "ENSEMBL:ENSP00000470972", "ENSEMBL:ENSP00000470972.1", "UMLS:C1311730"], "information_content": 92.8}
{"id": "NCBIGene:23636", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUP62", "equivalent_identifiers": ["NCBIGene:23636", "ENSEMBL:ENSG00000213024", "HGNC:8066", "OMIM:605815", "UMLS:C1417895", "UniProtKB:P37198", "PR:P37198", "ENSEMBL:ENSP00000305503", "ENSEMBL:ENSP00000305503.3", "ENSEMBL:ENSP00000407331", "ENSEMBL:ENSP00000407331.1", "ENSEMBL:ENSP00000468839", "ENSEMBL:ENSP00000468839.2", "ENSEMBL:ENSP00000468842", "ENSEMBL:ENSP00000468842.2", "ENSEMBL:ENSP00000468884", "ENSEMBL:ENSP00000468884.2", "ENSEMBL:ENSP00000471191", "ENSEMBL:ENSP00000471191.1", "ENSEMBL:ENSP00000473192", "ENSEMBL:ENSP00000473192.1", "ENSEMBL:ENSP00000515006", "ENSEMBL:ENSP00000515006.1", "ENSEMBL:ENSP00000515007", "ENSEMBL:ENSP00000515007.1", "ENSEMBL:ENSP00000515008", "ENSEMBL:ENSP00000515008.1", "ENSEMBL:ENSP00000515009", "ENSEMBL:ENSP00000515009.1", "ENSEMBL:ENSP00000515010", "ENSEMBL:ENSP00000515010.1", "ENSEMBL:ENSP00000515011", "ENSEMBL:ENSP00000515011.1", "ENSEMBL:ENSP00000515012", "ENSEMBL:ENSP00000515012.1", "ENSEMBL:ENSP00000515013", "ENSEMBL:ENSP00000515013.1", "ENSEMBL:ENSP00000515014", "ENSEMBL:ENSP00000515014.1", "UMLS:C2976459"], "information_content": 92.8}
{"id": "UniProtKB:Q8TF21-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 24 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF21-1", "PR:Q8TF21-1", "ENSEMBL:ENSP00000321731", "ENSEMBL:ENSP00000321731.4", "ENSEMBL:ENSP00000471252", "ENSEMBL:ENSP00000471252.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96NG5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 558 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NG5-1", "PR:Q96NG5-1", "ENSEMBL:ENSP00000301475", "ENSEMBL:ENSP00000301475.1", "ENSEMBL:ENSP00000471277", "ENSEMBL:ENSP00000471277.1", "ENSEMBL:ENSP00000517273", "ENSEMBL:ENSP00000517273.1", "ENSEMBL:ENSP00000517274", "ENSEMBL:ENSP00000517274.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6Y5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PDZ domain-containing protein MAGIX isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6Y5-1", "PR:Q9H6Y5-1", "ENSEMBL:ENSP00000471299", "ENSEMBL:ENSP00000471299.1", "ENSEMBL:ENSP00000518060", "ENSEMBL:ENSP00000518060.1"], "information_content": 100.0}
{"id": "NCBIGene:728780", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANKDD1B", "equivalent_identifiers": ["NCBIGene:728780", "ENSEMBL:ENSG00000189045", "HGNC:32525", "OMIM:619920", "UMLS:C1823664", "UniProtKB:A6NHY2", "PR:A6NHY2", "ENSEMBL:ENSP00000471417", "ENSEMBL:ENSP00000471417.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6R9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein CCDC61 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6R9-1", "PR:Q9Y6R9-1", "ENSEMBL:ENSP00000471454", "ENSEMBL:ENSP00000471454.1"], "information_content": 100.0}
{"id": "MONDO:0019125", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "relapsing polychondritis", "equivalent_identifiers": ["MONDO:0019125", "DOID:2556", "orphanet:728", "EFO:1001148", "UMLS:C0032453", "UMLS:C2936897", "MESH:C537574", "MESH:D011081", "MEDDRA:10008835", "MEDDRA:10038304", "NCIT:C157268", "SNOMEDCT:72275000", "medgen:45995", "icd11.foundation:1412888287", "ICD10:M94.1"], "information_content": 100.0}
{"id": "NCBIGene:115098", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC124", "equivalent_identifiers": ["NCBIGene:115098", "ENSEMBL:ENSG00000007080", "HGNC:25171", "OMIM:621286", "UMLS:C1824651", "UniProtKB:Q96CT7", "PR:Q96CT7", "ENSEMBL:ENSP00000408730", "ENSEMBL:ENSP00000408730.1", "ENSEMBL:ENSP00000471455", "ENSEMBL:ENSP00000471455.1", "UMLS:C3849484", "MESH:C586662"], "information_content": 100.0}
{"id": "UniProtKB:Q13459-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-IXb isoform Short (human)", "equivalent_identifiers": ["UniProtKB:Q13459-2", "PR:Q13459-2", "ENSEMBL:ENSP00000380444", "ENSEMBL:ENSP00000380444.2", "ENSEMBL:ENSP00000471457", "ENSEMBL:ENSP00000471457.1"], "information_content": 100.0}
{"id": "NCBIGene:26291", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FGF21", "equivalent_identifiers": ["NCBIGene:26291", "ENSEMBL:ENSG00000105550", "HGNC:3678", "OMIM:609436", "UMLS:C1333538", "UniProtKB:Q9NSA1", "PR:Q9NSA1", "ENSEMBL:ENSP00000222157", "ENSEMBL:ENSP00000222157.3", "ENSEMBL:ENSP00000471477", "ENSEMBL:ENSP00000471477.1", "UMLS:C3887831"], "information_content": 89.4}
{"id": "NCBIGene:2357", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FPR1", "equivalent_identifiers": ["NCBIGene:2357", "ENSEMBL:ENSG00000171051", "HGNC:3826", "OMIM:136537", "UMLS:C1333574", "UniProtKB:P21462", "PR:P21462", "ENSEMBL:ENSP00000302707", "ENSEMBL:ENSP00000302707.3", "ENSEMBL:ENSP00000470750", "ENSEMBL:ENSP00000470750.2", "ENSEMBL:ENSP00000471493", "ENSEMBL:ENSP00000471493.1", "ENSEMBL:ENSP00000472936", "ENSEMBL:ENSP00000472936.2", "UMLS:C1256801", "MESH:C469986"], "information_content": 100.0}
{"id": "UniProtKB:A6NNF4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 726 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:A6NNF4-3", "PR:A6NNF4-3", "ENSEMBL:ENSP00000471516", "ENSEMBL:ENSP00000471516.1"], "information_content": 100.0}
{"id": "NCBIGene:85509", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MBD3L1", "equivalent_identifiers": ["NCBIGene:85509", "ENSEMBL:ENSG00000170948", "HGNC:15774", "OMIM:607963", "UMLS:C1423722", "UniProtKB:Q8WWY6", "PR:Q8WWY6", "ENSEMBL:ENSP00000304198", "ENSEMBL:ENSP00000304198.2", "ENSEMBL:ENSP00000471575", "ENSEMBL:ENSP00000471575.1", "ENSEMBL:ENSP00000517279", "ENSEMBL:ENSP00000517279.1", "ENSEMBL:ENSP00000517280", "ENSEMBL:ENSP00000517280.1", "UMLS:C1258868", "MESH:C474631"], "information_content": 100.0}
{"id": "NCBIGene:56157", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX13A", "equivalent_identifiers": ["NCBIGene:56157", "ENSEMBL:ENSG00000268629", "HGNC:11735", "OMIM:300312", "UMLS:C1420692", "UniProtKB:Q9BXU3", "PR:Q9BXU3", "ENSEMBL:ENSP00000471604", "ENSEMBL:ENSP00000471604.2", "ENSEMBL:ENSP00000477478", "ENSEMBL:ENSP00000477478.2"], "information_content": 100.0}
{"id": "UniProtKB:M0R135", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M0R135_HUMAN KRAB domain-containing protein (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:M0R135", "ENSEMBL:ENSP00000471613", "ENSEMBL:ENSP00000471613.1"]}
{"id": "NCBIGene:653486", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCGB1C2", "equivalent_identifiers": ["NCBIGene:653486", "ENSEMBL:ENSG00000268320", "HGNC:51242", "UMLS:C3889774", "UniProtKB:P0DMR2", "PR:P0DMR2", "ENSEMBL:ENSP00000471646", "ENSEMBL:ENSP00000471646.2", "ENSEMBL:ENSP00000479313", "ENSEMBL:ENSP00000479313.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WUX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium-coupled neutral amino acid transporter 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUX1-1", "PR:Q8WUX1-1", "ENSEMBL:ENSP00000471683", "ENSEMBL:ENSP00000471683.1", "ENSEMBL:ENSP00000481291", "ENSEMBL:ENSP00000481291.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14318-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidyl-prolyl cis-trans isomerase FKBP8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q14318-2", "PR:Q14318-2", "ENSEMBL:ENSP00000471700", "ENSEMBL:ENSP00000471700.1", "ENSEMBL:ENSP00000476767", "ENSEMBL:ENSP00000476767.1"], "information_content": 100.0}
{"id": "NCBIGene:84954", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MPND", "equivalent_identifiers": ["NCBIGene:84954", "ENSEMBL:ENSG00000008382", "HGNC:25934", "UMLS:C2239756", "UniProtKB:Q8N594", "PR:Q8N594", "UniProtKB:W4VSR2", "ENSEMBL:ENSP00000471735", "ENSEMBL:ENSP00000471735.1"]}
{"id": "NCBIGene:81794", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAMTS10", "equivalent_identifiers": ["NCBIGene:81794", "ENSEMBL:ENSG00000142303", "HGNC:13201", "OMIM:608990", "UMLS:C1421875", "UniProtKB:A0A0A0MQW6", "ENSEMBL:ENSP00000270328", "ENSEMBL:ENSP00000270328.4", "ENSEMBL:ENSP00000471851", "ENSEMBL:ENSP00000471851.1", "UniProtKB:Q59FE5", "UniProtKB:Q6ZN14", "UniProtKB:Q9H324", "PR:Q9H324", "UMLS:C1530672", "MESH:C494614"]}
{"id": "NCBIGene:57817", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HAMP", "equivalent_identifiers": ["NCBIGene:57817", "ENSEMBL:ENSG00000105697", "HGNC:15598", "OMIM:606464", "UMLS:C1423607", "UniProtKB:P81172", "PR:P81172", "ENSEMBL:ENSP00000222304", "ENSEMBL:ENSP00000222304.2", "ENSEMBL:ENSP00000471894", "ENSEMBL:ENSP00000471894.1", "UMLS:C3711683", "MESH:C578702"], "information_content": 100.0}
{"id": "UniProtKB:Q14653-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon regulatory factor 3 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q14653-4", "PR:Q14653-4", "ENSEMBL:ENSP00000471896", "ENSEMBL:ENSP00000471896.1"], "information_content": 100.0}
{"id": "UniProtKB:Q01892-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor Spi-B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01892-1", "PR:Q01892-1", "ENSEMBL:ENSP00000471921", "ENSEMBL:ENSP00000471921.1"], "information_content": 100.0}
{"id": "NCBIGene:84548", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM185A", "equivalent_identifiers": ["NCBIGene:84548", "ENSEMBL:ENSG00000269556", "HGNC:17125", "OMIM:300031", "UMLS:C1424761", "UniProtKB:B7Z4G6", "ENSEMBL:ENSP00000483235", "ENSEMBL:ENSP00000483235.1", "UMLS:C1569191", "MESH:C500606", "UniProtKB:E7EMM1", "ENSEMBL:ENSP00000427766", "ENSEMBL:ENSP00000427766.1", "UniProtKB:Q8NFB2", "PR:Q8NFB2", "ENSEMBL:ENSP00000471932", "ENSEMBL:ENSP00000471932.1", "UniProtKB:Q8TCB3"], "information_content": 100.0}
{"id": "UniProtKB:Q15562-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcriptional enhancer factor TEF-4 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q15562-4", "PR:Q15562-4", "ENSEMBL:ENSP00000469640", "ENSEMBL:ENSP00000469640.2", "ENSEMBL:ENSP00000472109", "ENSEMBL:ENSP00000472109.1"], "information_content": 100.0}
{"id": "UniProtKB:P0DPK3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "notch homolog 2 N-terminal-like protein B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P0DPK3-2", "PR:P0DPK3-2", "ENSEMBL:ENSP00000472124", "ENSEMBL:ENSP00000472124.1"], "information_content": 100.0}
{"id": "NCBIGene:9535", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GMFG", "equivalent_identifiers": ["NCBIGene:9535", "ENSEMBL:ENSG00000130755", "HGNC:4374", "OMIM:604104", "UMLS:C1415133", "UniProtKB:M0R0C1", "ENSEMBL:ENSP00000253054", "ENSEMBL:ENSP00000253054.8", "ENSEMBL:ENSP00000471139", "ENSEMBL:ENSP00000471139.1", "ENSEMBL:ENSP00000517473", "ENSEMBL:ENSP00000517473.1", "ENSEMBL:ENSP00000517475", "ENSEMBL:ENSP00000517475.1", "UniProtKB:M0R1D2", "ENSEMBL:ENSP00000471786", "ENSEMBL:ENSP00000471786.1", "ENSEMBL:ENSP00000517468", "ENSEMBL:ENSP00000517468.1", "UniProtKB:O60234", "PR:O60234", "ENSEMBL:ENSP00000472249", "ENSEMBL:ENSP00000472249.1", "ENSEMBL:ENSP00000517472", "ENSEMBL:ENSP00000517472.1"], "information_content": 92.8}
{"id": "NCBIGene:140467", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF358", "equivalent_identifiers": ["NCBIGene:140467", "ENSEMBL:ENSG00000198816", "HGNC:16838", "OMIM:619496", "UMLS:C1424585", "UniProtKB:Q9NW07", "PR:Q9NW07", "ENSEMBL:ENSP00000472305", "ENSEMBL:ENSP00000472305.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BY14-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis-expressed protein 101 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY14-2", "PR:Q9BY14-2", "ENSEMBL:ENSP00000472308", "ENSEMBL:ENSP00000472308.1"], "information_content": 100.0}
{"id": "UniProtKB:P04001", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "OPSG_HUMAN Medium-wave-sensitive opsin 1 (sprot)", "equivalent_identifiers": ["UniProtKB:P04001", "PR:P04001", "ENSEMBL:ENSP00000472316", "ENSEMBL:ENSP00000472316.1"], "information_content": 92.8}
{"id": "NCBIGene:644100", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARL14EPL", "equivalent_identifiers": ["NCBIGene:644100", "ENSEMBL:ENSG00000268223", "HGNC:44201", "UMLS:C3543318", "UniProtKB:P0DKL9", "PR:P0DKL9", "ENSEMBL:ENSP00000472409", "ENSEMBL:ENSP00000472409.1", "ENSEMBL:ENSP00000510304", "ENSEMBL:ENSP00000510304.1"], "information_content": 100.0}
{"id": "MONDO:0000903", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myoclonus-dystonia syndrome", "equivalent_identifiers": ["MONDO:0000903", "DOID:0090033", "orphanet:36899", "MESH:C536096", "SNOMEDCT:439732004"], "information_content": 90.9}
{"id": "UniProtKB:Q6IPT2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi-associated RAB2 interactor protein 5A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IPT2-1", "PR:Q6IPT2-1", "ENSEMBL:ENSP00000472421", "ENSEMBL:ENSP00000472421.2"], "information_content": 100.0}
{"id": "NCBIGene:5424", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLD1", "equivalent_identifiers": ["NCBIGene:5424", "ENSEMBL:ENSG00000062822", "HGNC:9175", "OMIM:174761", "UMLS:C1418727", "UniProtKB:A0A087WYJ2", "ENSEMBL:ENSP00000481858", "ENSEMBL:ENSP00000481858.2", "UniProtKB:M0R2B7", "ENSEMBL:ENSP00000472445", "ENSEMBL:ENSP00000472445.1", "UniProtKB:P28340", "PR:P28340", "ENSEMBL:ENSP00000406046", "ENSEMBL:ENSP00000406046.1", "ENSEMBL:ENSP00000472600", "ENSEMBL:ENSP00000472600.2", "ENSEMBL:ENSP00000472607", "ENSEMBL:ENSP00000472607.2", "ENSEMBL:ENSP00000473052", "ENSEMBL:ENSP00000473052.1", "ENSEMBL:ENSP00000510052", "ENSEMBL:ENSP00000510052.1", "UMLS:C1310127", "MESH:C434055", "UniProtKB:Q308M6", "UniProtKB:Q59FA0"]}
{"id": "UniProtKB:M0R2C6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M0R2C6_HUMAN serine--tRNA ligase (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:M0R2C6", "ENSEMBL:ENSP00000472465", "ENSEMBL:ENSP00000472465.1", "ENSEMBL:ENSP00000488961", "ENSEMBL:ENSP00000488961.1"]}
{"id": "NCBIGene:284340", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CXCL17", "equivalent_identifiers": ["NCBIGene:284340", "ENSEMBL:ENSG00000189377", "HGNC:19232", "OMIM:611387", "UMLS:C1969646", "UniProtKB:Q6UXB2", "PR:Q6UXB2", "ENSEMBL:ENSP00000472467", "ENSEMBL:ENSP00000472467.1", "UMLS:C1701898", "MESH:C508524"], "information_content": 90.9}
{"id": "NCBIGene:6234", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS28", "equivalent_identifiers": ["NCBIGene:6234", "ENSEMBL:ENSG00000233927", "HGNC:10418", "OMIM:603685", "UMLS:C1419731", "UniProtKB:B2R4R9", "UMLS:C1435667", "MESH:C486166", "UniProtKB:P62857", "PR:P62857", "ENSEMBL:ENSP00000472469", "ENSEMBL:ENSP00000472469.1"], "information_content": 89.4}
{"id": "UniProtKB:Q96RQ9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "L-amino-acid oxidase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96RQ9-2", "PR:Q96RQ9-2", "ENSEMBL:ENSP00000342557", "ENSEMBL:ENSP00000342557.2", "ENSEMBL:ENSP00000472474", "ENSEMBL:ENSP00000472474.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9GZY0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NXF2_HUMAN Nuclear RNA export factor 2 (sprot)", "equivalent_identifiers": ["UniProtKB:Q9GZY0", "PR:Q9GZY0", "ENSEMBL:ENSP00000472530", "ENSEMBL:ENSP00000472530.1", "ENSEMBL:ENSP00000474598", "ENSEMBL:ENSP00000474598.2", "ENSEMBL:ENSP00000474659", "ENSEMBL:ENSP00000474659.2", "ENSEMBL:ENSP00000485586", "ENSEMBL:ENSP00000485586.2"], "information_content": 100.0}
{"id": "UniProtKB:Q9UP65-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytosolic phospholipase A2 gamma isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9UP65-3", "PR:Q9UP65-3", "ENSEMBL:ENSP00000472546", "ENSEMBL:ENSP00000472546.1"], "information_content": 100.0}
{"id": "NCBIGene:27202", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C5AR2", "equivalent_identifiers": ["NCBIGene:27202", "ENSEMBL:ENSG00000134830", "HGNC:4527", "OMIM:609949", "UMLS:C1415258", "UniProtKB:Q9P296", "PR:Q9P296", "ENSEMBL:ENSP00000471184", "ENSEMBL:ENSP00000471184.1", "ENSEMBL:ENSP00000472620", "ENSEMBL:ENSP00000472620.1"], "information_content": 100.0}
{"id": "NCBIGene:647219", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ASCL5", "equivalent_identifiers": ["NCBIGene:647219", "ENSEMBL:ENSG00000232237", "HGNC:33169", "OMIM:620809", "UMLS:C1825088", "UniProtKB:M0R2M9", "ENSEMBL:ENSP00000472681", "ENSEMBL:ENSP00000472681.1"]}
{"id": "NCBIGene:122394733", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMSB15C", "equivalent_identifiers": ["NCBIGene:122394733", "ENSEMBL:ENSG00000269226", "HGNC:55173", "UMLS:C5782388", "UniProtKB:P0DX04", "PR:P0DX04", "ENSEMBL:ENSP00000472749", "ENSEMBL:ENSP00000472749.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NWS9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 446 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWS9-1", "PR:Q9NWS9-1", "ENSEMBL:ENSP00000472802", "ENSEMBL:ENSP00000472802.1"], "information_content": 100.0}
{"id": "MONDO:0015609", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "advanced sleep phase syndrome", "equivalent_identifiers": ["MONDO:0015609", "DOID:0050628", "OMIM.PS:604348", "orphanet:164736", "UMLS:C1858496", "MESH:C565789", "SNOMEDCT:715829003", "medgen:348956"], "information_content": 89.4}
{"id": "NCBIGene:25888", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF473", "equivalent_identifiers": ["NCBIGene:25888", "ENSEMBL:ENSG00000142528", "HGNC:23239", "OMIM:617908", "UMLS:C1428011", "UniProtKB:B4DY71", "UMLS:C1432407", "MESH:C095988", "UniProtKB:F8WEC7", "ENSEMBL:ENSP00000388961", "ENSEMBL:ENSP00000388961.2", "UniProtKB:Q8WTR7", "PR:Q8WTR7", "ENSEMBL:ENSP00000270617", "ENSEMBL:ENSP00000270617.3", "ENSEMBL:ENSP00000375697", "ENSEMBL:ENSP00000375697.1", "ENSEMBL:ENSP00000472808", "ENSEMBL:ENSP00000472808.1"], "information_content": 100.0}
{"id": "NCBIGene:79036", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KXD1", "equivalent_identifiers": ["NCBIGene:79036", "ENSEMBL:ENSG00000105700", "HGNC:28420", "OMIM:615178", "UMLS:C3470554", "UniProtKB:Q9BQD3", "PR:Q9BQD3", "ENSEMBL:ENSP00000222307", "ENSEMBL:ENSP00000222307.3", "ENSEMBL:ENSP00000438903", "ENSEMBL:ENSP00000438903.1", "ENSEMBL:ENSP00000443549", "ENSEMBL:ENSP00000443549.1", "ENSEMBL:ENSP00000468990", "ENSEMBL:ENSP00000468990.1", "ENSEMBL:ENSP00000471554", "ENSEMBL:ENSP00000471554.1", "ENSEMBL:ENSP00000472678", "ENSEMBL:ENSP00000472678.1", "ENSEMBL:ENSP00000472836", "ENSEMBL:ENSP00000472836.1", "UMLS:C3501038", "MESH:C576215"], "information_content": 95.4}
{"id": "UniProtKB:Q9NP81-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine--tRNA ligase, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP81-2", "PR:Q9NP81-2", "ENSEMBL:ENSP00000472847", "ENSEMBL:ENSP00000472847.1", "ENSEMBL:ENSP00000489453", "ENSEMBL:ENSP00000489453.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3SY52-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein interacting with ribonucleoprotein K isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3SY52-1", "PR:Q3SY52-1", "ENSEMBL:ENSP00000472867", "ENSEMBL:ENSP00000472867.1"], "information_content": 100.0}
{"id": "NCBIGene:10147", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SUGP2", "equivalent_identifiers": ["NCBIGene:10147", "ENSEMBL:ENSG00000064607", "HGNC:18641", "OMIM:607993", "UMLS:C1425670", "UniProtKB:A8K5G0", "UMLS:C1175885", "MESH:C000595781", "UniProtKB:M0R2Z9", "ENSEMBL:ENSP00000472914", "ENSEMBL:ENSP00000472914.1", "UniProtKB:Q8IX01", "PR:Q8IX01"]}
{"id": "NCBIGene:100271846", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERVV-2", "equivalent_identifiers": ["NCBIGene:100271846", "ENSEMBL:ENSG00000268964", "HGNC:39051", "UMLS:C3147234", "UniProtKB:B6SEH9", "PR:B6SEH9", "ENSEMBL:ENSP00000472919", "ENSEMBL:ENSP00000472919.1", "UniProtKB:M9QSX5"], "information_content": 100.0}
{"id": "UniProtKB:P15498-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proto-oncogene vav isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P15498-1", "PR:P15498-1", "ENSEMBL:ENSP00000472929", "ENSEMBL:ENSP00000472929.1"], "information_content": 100.0}
{"id": "NCBIGene:6193", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS5", "equivalent_identifiers": ["NCBIGene:6193", "ENSEMBL:ENSG00000083845", "HGNC:10426", "OMIM:603630", "UMLS:C1419738", "UniProtKB:P46782", "PR:P46782", "ENSEMBL:ENSP00000196551", "ENSEMBL:ENSP00000196551.3", "ENSEMBL:ENSP00000470114", "ENSEMBL:ENSP00000470114.1", "ENSEMBL:ENSP00000472985", "ENSEMBL:ENSP00000472985.1", "UMLS:C1615593"], "information_content": 88.2}
{"id": "UniProtKB:P08621-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U1 small nuclear ribonucleoprotein 70 kDa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08621-1", "PR:P08621-1", "ENSEMBL:ENSP00000472998", "ENSEMBL:ENSP00000472998.1"], "information_content": 100.0}
{"id": "NCBIGene:23149", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FCHO1", "equivalent_identifiers": ["NCBIGene:23149", "ENSEMBL:ENSG00000130475", "HGNC:29002", "OMIM:613437", "UMLS:C1428769", "UniProtKB:A0A0C3SFZ9", "ENSEMBL:ENSP00000473001", "ENSEMBL:ENSP00000473001.1", "UniProtKB:A0A8V8TMX9", "ENSEMBL:ENSP00000514200", "ENSEMBL:ENSP00000514200.1", "ENSEMBL:ENSP00000514210", "ENSEMBL:ENSP00000514210.1", "UniProtKB:A0A8V8TNC3", "ENSEMBL:ENSP00000514195", "ENSEMBL:ENSP00000514195.1", "ENSEMBL:ENSP00000514198", "ENSEMBL:ENSP00000514198.1", "ENSEMBL:ENSP00000514212", "ENSEMBL:ENSP00000514212.1", "UniProtKB:A0A8V8TPM7", "ENSEMBL:ENSP00000514201", "ENSEMBL:ENSP00000514201.1", "UniProtKB:B7ZAZ3", "UniProtKB:M0QYA9", "ENSEMBL:ENSP00000469711", "ENSEMBL:ENSP00000469711.2", "ENSEMBL:ENSP00000514196", "ENSEMBL:ENSP00000514196.1", "ENSEMBL:ENSP00000514197", "ENSEMBL:ENSP00000514197.1", "ENSEMBL:ENSP00000514209", "ENSEMBL:ENSP00000514209.1", "UniProtKB:O14526", "PR:O14526", "UMLS:C2001546", "MESH:C524557"]}
{"id": "UniProtKB:Q9ULN7-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paraneoplastic antigen-like protein 8B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULN7-5", "PR:Q9ULN7-5", "ENSEMBL:ENSP00000473036", "ENSEMBL:ENSP00000473036.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UBX7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kallikrein-11 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBX7-2", "PR:Q9UBX7-2", "ENSEMBL:ENSP00000473047", "ENSEMBL:ENSP00000473047.1"], "information_content": 100.0}
{"id": "NCBIGene:4102", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEA3", "equivalent_identifiers": ["NCBIGene:4102", "ENSEMBL:ENSG00000221867", "HGNC:6801", "OMIM:300174", "UMLS:C0677907", "UniProtKB:P43357", "PR:P43357", "ENSEMBL:ENSP00000359301", "ENSEMBL:ENSP00000359301.3", "ENSEMBL:ENSP00000473093", "ENSEMBL:ENSP00000473093.1", "ENSEMBL:ENSP00000517961", "ENSEMBL:ENSP00000517961.1", "ENSEMBL:ENSP00000517962", "ENSEMBL:ENSP00000517962.1", "UMLS:C0962473", "MESH:C072013"], "information_content": 100.0}
{"id": "NCBIGene:147664", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERVV-1", "equivalent_identifiers": ["NCBIGene:147664", "ENSEMBL:ENSG00000269526", "HGNC:26501", "UMLS:C3147233", "UniProtKB:B6SEH8", "PR:B6SEH8", "ENSEMBL:ENSP00000473153", "ENSEMBL:ENSP00000473153.1", "UniProtKB:M9QQA5"], "information_content": 100.0}
{"id": "NCBIGene:2867", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FFAR2", "equivalent_identifiers": ["NCBIGene:2867", "ENSEMBL:ENSG00000126262", "HGNC:4501", "OMIM:603823", "UMLS:C1825293", "UniProtKB:C6KYL4", "UMLS:C1175698", "MESH:C473103", "UniProtKB:O15552", "PR:O15552", "ENSEMBL:ENSP00000246549", "ENSEMBL:ENSP00000246549.2", "ENSEMBL:ENSP00000473159", "ENSEMBL:ENSP00000473159.1"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y230-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RuvB-like 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y230-1", "PR:Q9Y230-1", "ENSEMBL:ENSP00000473172", "ENSEMBL:ENSP00000473172.1"], "information_content": 100.0}
{"id": "NCBIGene:6415", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SELENOW", "equivalent_identifiers": ["NCBIGene:6415", "ENSEMBL:ENSG00000178980", "HGNC:10752", "OMIM:603235", "UMLS:C1419969", "UniProtKB:P63302", "PR:P63302", "ENSEMBL:ENSP00000470941", "ENSEMBL:ENSP00000470941.1", "ENSEMBL:ENSP00000471149", "ENSEMBL:ENSP00000471149.1", "ENSEMBL:ENSP00000473185", "ENSEMBL:ENSP00000473185.1", "UMLS:C0207841", "MESH:C495240"], "information_content": 100.0}
{"id": "NCBIGene:2866", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR42", "equivalent_identifiers": ["NCBIGene:2866", "ENSEMBL:ENSG00000126251", "HGNC:4500", "OMIM:603822", "UMLS:C1415236", "UniProtKB:A0A0K0PUY3", "UniProtKB:O15529", "PR:O15529", "ENSEMBL:ENSP00000410925", "ENSEMBL:ENSP00000410925.1", "ENSEMBL:ENSP00000473212", "ENSEMBL:ENSP00000473212.1"], "information_content": 100.0}
{"id": "NCBIGene:51497", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NELFCD", "equivalent_identifiers": ["NCBIGene:51497", "ENSEMBL:ENSG00000101158", "HGNC:15934", "OMIM:605297", "UMLS:C1423842", "UniProtKB:H0UI80", "ENSEMBL:ENSP00000473290", "ENSEMBL:ENSP00000473290.1", "UniProtKB:Q8IXH7", "PR:Q8IXH7", "UMLS:C3537293"]}
{"id": "UniProtKB:O95479-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GDH/6PGL endoplasmic bifunctional protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O95479-2", "PR:O95479-2", "ENSEMBL:ENSP00000473348", "ENSEMBL:ENSP00000473348.1"], "information_content": 100.0}
{"id": "NCBIGene:53828", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FXYD4", "equivalent_identifiers": ["NCBIGene:53828", "ENSEMBL:ENSG00000150201", "HGNC:4028", "OMIM:616926", "UMLS:C1414877", "UniProtKB:P59646", "PR:P59646", "ENSEMBL:ENSP00000473361", "ENSEMBL:ENSP00000473361.1", "ENSEMBL:ENSP00000483791", "ENSEMBL:ENSP00000483791.1"], "information_content": 95.4}
{"id": "NCBIGene:101928601", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MEI4", "equivalent_identifiers": ["NCBIGene:101928601", "ENSEMBL:ENSG00000269964", "HGNC:43638", "OMIM:618417", "UMLS:C3544029", "UniProtKB:A8MW99", "PR:A8MW99", "ENSEMBL:ENSP00000473370", "ENSEMBL:ENSP00000473370.1", "ENSEMBL:ENSP00000496917", "ENSEMBL:ENSP00000496917.1", "ENSEMBL:ENSP00000507827", "ENSEMBL:ENSP00000507827.1"], "information_content": 100.0}
{"id": "UniProtKB:P54368-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ornithine decarboxylase antizyme 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P54368-1", "PR:P54368-1", "ENSEMBL:ENSP00000473381", "ENSEMBL:ENSP00000473381.1"], "information_content": 100.0}
{"id": "NCBIGene:345630", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBLL1", "equivalent_identifiers": ["NCBIGene:345630", "ENSEMBL:ENSG00000188573", "HGNC:35458", "UMLS:C2681525", "UniProtKB:A6NHQ2", "PR:A6NHQ2", "ENSEMBL:ENSP00000473383", "ENSEMBL:ENSP00000473383.1"], "information_content": 100.0}
{"id": "DOID:0070025", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked dyskeratosis congenita", "equivalent_identifiers": ["DOID:0070025"]}
{"id": "NCBIGene:100532731", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COMMD3-BMI1", "equivalent_identifiers": ["NCBIGene:100532731", "ENSEMBL:ENSG00000269897", "HGNC:48326", "UMLS:C3813879", "UniProtKB:R4GMX3", "ENSEMBL:ENSP00000473391", "ENSEMBL:ENSP00000473391.1"]}
{"id": "UniProtKB:Q5VZ89-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DENN domain-containing protein 4C isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5VZ89-7", "PR:Q5VZ89-7", "ENSEMBL:ENSP00000473469", "ENSEMBL:ENSP00000473469.1"], "information_content": 100.0}
{"id": "NCBIGene:10477", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2E3", "equivalent_identifiers": ["NCBIGene:10477", "ENSEMBL:ENSG00000170035", "HGNC:12479", "OMIM:604151", "UMLS:C1421278", "UniProtKB:Q969T4", "PR:Q969T4", "ENSEMBL:ENSP00000376215", "ENSEMBL:ENSP00000376215.2", "ENSEMBL:ENSP00000386788", "ENSEMBL:ENSP00000386788.3", "ENSEMBL:ENSP00000473623", "ENSEMBL:ENSP00000473623.1", "ENSEMBL:ENSP00000473639", "ENSEMBL:ENSP00000473639.1", "UMLS:C4076847", "MESH:C000601635"], "information_content": 92.8}
{"id": "NCBIGene:5611", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAJC3", "equivalent_identifiers": ["NCBIGene:5611", "ENSEMBL:ENSG00000102580", "HGNC:9439", "OMIM:601184", "UMLS:C1418932", "UniProtKB:A8KA82", "UMLS:C1530453", "MESH:C494651", "UniProtKB:Q13217", "PR:Q13217", "ENSEMBL:ENSP00000473631", "ENSEMBL:ENSP00000473631.1"], "information_content": 88.2}
{"id": "UniProtKB:A3KN83-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein strawberry notch homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A3KN83-1", "PR:A3KN83-1", "ENSEMBL:ENSP00000387361", "ENSEMBL:ENSP00000387361.2", "ENSEMBL:ENSP00000473665", "ENSEMBL:ENSP00000473665.1"], "information_content": 100.0}
{"id": "NCBIGene:340900", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EBLN1", "equivalent_identifiers": ["NCBIGene:340900", "ENSEMBL:ENSG00000223601", "HGNC:39430", "OMIM:613249", "UMLS:C2750469", "UniProtKB:P0CF75", "PR:P0CF75", "ENSEMBL:ENSP00000473842", "ENSEMBL:ENSP00000473842.1", "UMLS:C4308277", "MESH:C000612894"], "information_content": 100.0}
{"id": "UniProtKB:Q9H239-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "matrix metalloproteinase-28 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H239-1", "PR:Q9H239-1", "ENSEMBL:ENSP00000473853", "ENSEMBL:ENSP00000473853.1", "ENSEMBL:ENSP00000484430", "ENSEMBL:ENSP00000484430.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14802-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FXYD domain-containing ion transport regulator 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q14802-3", "PR:Q14802-3", "ENSEMBL:ENSP00000473929", "ENSEMBL:ENSP00000473929.1"], "information_content": 100.0}
{"id": "UniProtKB:A2RTY3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein HEATR9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A2RTY3-1", "PR:A2RTY3-1", "ENSEMBL:ENSP00000473941", "ENSEMBL:ENSP00000473941.1", "ENSEMBL:ENSP00000479676", "ENSEMBL:ENSP00000479676.1"], "information_content": 100.0}
{"id": "UniProtKB:P43353-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "aldehyde dehydrogenase family 3 member B1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P43353-1", "PR:P43353-1", "ENSEMBL:ENSP00000473990", "ENSEMBL:ENSP00000473990.2", "ENSEMBL:ENSP00000478486", "ENSEMBL:ENSP00000478486.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCX1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoplasmic dynein 2 light intermediate chain 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCX1-2", "PR:Q8TCX1-2", "ENSEMBL:ENSP00000474032", "ENSEMBL:ENSP00000474032.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96HB5-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 120 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96HB5-4", "PR:Q96HB5-4", "ENSEMBL:ENSP00000474071", "ENSEMBL:ENSP00000474071.1", "ENSEMBL:ENSP00000518409", "ENSEMBL:ENSP00000518409.1"], "information_content": 100.0}
{"id": "UniProtKB:O95045-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uridine phosphorylase 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O95045-2", "PR:O95045-2", "ENSEMBL:ENSP00000474090", "ENSEMBL:ENSP00000474090.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92804-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TATA-binding protein-associated factor 2N isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q92804-1", "PR:Q92804-1", "ENSEMBL:ENSP00000474096", "ENSEMBL:ENSP00000474096.1", "ENSEMBL:ENSP00000480040", "ENSEMBL:ENSP00000480040.1"], "information_content": 100.0}
{"id": "UniProtKB:S4R3C0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "S4R3C0_HUMAN Immunoglobulin heavy variable 3/OR16-17 (non-functional) (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:S4R3C0", "ENSEMBL:ENSP00000474135", "ENSEMBL:ENSP00000474135.1"]}
{"id": "NCBIGene:389170", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LEKR1", "equivalent_identifiers": ["NCBIGene:389170", "ENSEMBL:ENSG00000197980", "HGNC:33765", "OMIM:613536", "UMLS:C2239647", "UniProtKB:J3KP02", "ENSEMBL:ENSP00000348936", "ENSEMBL:ENSP00000348936.4", "UMLS:C4277496", "MESH:C000605359", "UniProtKB:Q6ZMV7", "PR:Q6ZMV7", "ENSEMBL:ENSP00000425282", "ENSEMBL:ENSP00000425282.1", "ENSEMBL:ENSP00000474182", "ENSEMBL:ENSP00000474182.1"], "information_content": 100.0}
{"id": "NCBIGene:91608", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RASL10B", "equivalent_identifiers": ["NCBIGene:91608", "ENSEMBL:ENSG00000270885", "HGNC:30295", "OMIM:612128", "UMLS:C1428957", "UniProtKB:Q96S79", "PR:Q96S79", "ENSEMBL:ENSP00000474230", "ENSEMBL:ENSP00000474230.1", "UMLS:C2000090", "MESH:C522805"], "information_content": 95.4}
{"id": "NCBIGene:100129669", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IZUMO3", "equivalent_identifiers": ["NCBIGene:100129669", "ENSEMBL:ENSG00000205442", "HGNC:31421", "OMIM:618896", "UMLS:C1538360", "UniProtKB:Q5VZ72", "PR:Q5VZ72", "ENSEMBL:ENSP00000438895", "ENSEMBL:ENSP00000438895.1", "UniProtKB:S4R3E6", "ENSEMBL:ENSP00000474246", "ENSEMBL:ENSP00000474246.1", "UMLS:C4705273", "MESH:C000626581"]}
{"id": "UniProtKB:Q9UPS6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-lysine N-methyltransferase SETD1B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPS6-1", "PR:Q9UPS6-1", "ENSEMBL:ENSP00000474253", "ENSEMBL:ENSP00000474253.1", "ENSEMBL:ENSP00000481531", "ENSEMBL:ENSP00000481531.1"], "information_content": 100.0}
{"id": "NCBIGene:8747", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAM21", "equivalent_identifiers": ["NCBIGene:8747", "ENSEMBL:ENSG00000139985", "HGNC:200", "OMIM:603713", "UMLS:C1412191", "UniProtKB:Q9UKJ8", "PR:Q9UKJ8", "ENSEMBL:ENSP00000474385", "ENSEMBL:ENSP00000474385.1", "ENSEMBL:ENSP00000506213", "ENSEMBL:ENSP00000506213.1", "UMLS:C1308431", "MESH:C110999"], "information_content": 95.4}
{"id": "NCBIGene:340307", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTAGE6", "equivalent_identifiers": ["NCBIGene:340307", "ENSEMBL:ENSG00000271321", "HGNC:28644", "UMLS:C1539149", "UniProtKB:Q86UF2", "PR:Q86UF2", "ENSEMBL:ENSP00000474388", "ENSEMBL:ENSP00000474388.1", "ENSEMBL:ENSP00000493497", "ENSEMBL:ENSP00000493497.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3BBV0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NBPF family member NBPF1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q3BBV0-2", "PR:Q3BBV0-2", "ENSEMBL:ENSP00000474456", "ENSEMBL:ENSP00000474456.1"], "information_content": 100.0}
{"id": "NCBIGene:128077", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIX1L", "equivalent_identifiers": ["NCBIGene:128077", "ENSEMBL:ENSG00000271601", "HGNC:28715", "UMLS:C1537581", "UniProtKB:B3KY58", "UMLS:C4307616", "MESH:C000610666", "UniProtKB:Q8IVB5", "PR:Q8IVB5", "ENSEMBL:ENSP00000474487", "ENSEMBL:ENSP00000474487.3"], "information_content": 95.4}
{"id": "UniProtKB:Q8NHY3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GAS2-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHY3-1", "PR:Q8NHY3-1", "ENSEMBL:ENSP00000474529", "ENSEMBL:ENSP00000474529.2"], "information_content": 100.0}
{"id": "NCBIGene:100529241", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPE1-MOB4", "equivalent_identifiers": ["NCBIGene:100529241", "ENSEMBL:ENSG00000270757", "HGNC:49184", "UMLS:C3813532", "UniProtKB:S4R3N1", "ENSEMBL:ENSP00000474534", "ENSEMBL:ENSP00000474534.1"]}
{"id": "UniProtKB:Q16836-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q16836-3", "PR:Q16836-3", "ENSEMBL:ENSP00000474560", "ENSEMBL:ENSP00000474560.1"], "information_content": 100.0}
{"id": "NCBIGene:146429", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC22A31", "equivalent_identifiers": ["NCBIGene:146429", "ENSEMBL:ENSG00000259803", "HGNC:27091", "UMLS:C3469731", "UniProtKB:A0A087WY01", "ENSEMBL:ENSP00000474621", "ENSEMBL:ENSP00000474621.2", "ENSEMBL:ENSP00000481421", "ENSEMBL:ENSP00000481421.1"]}
{"id": "NCBIGene:64860", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARMCX5", "equivalent_identifiers": ["NCBIGene:64860", "ENSEMBL:ENSG00000125962", "HGNC:25772", "OMIM:301047", "UMLS:C1538943", "UniProtKB:Q6P1M9", "PR:Q6P1M9", "ENSEMBL:ENSP00000246174", "ENSEMBL:ENSP00000246174.2", "ENSEMBL:ENSP00000361827", "ENSEMBL:ENSP00000361827.1", "ENSEMBL:ENSP00000473737", "ENSEMBL:ENSP00000473737.2", "ENSEMBL:ENSP00000474470", "ENSEMBL:ENSP00000474470.2", "ENSEMBL:ENSP00000474484", "ENSEMBL:ENSP00000474484.2", "ENSEMBL:ENSP00000474720", "ENSEMBL:ENSP00000474720.1"], "information_content": 95.4}
{"id": "UniProtKB:Q969H0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/WD repeat-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q969H0-1", "PR:Q969H0-1", "ENSEMBL:ENSP00000281708", "ENSEMBL:ENSP00000281708.3", "ENSEMBL:ENSP00000474725", "ENSEMBL:ENSP00000474725.1", "ENSEMBL:ENSP00000474971", "ENSEMBL:ENSP00000474971.1"], "information_content": 88.2}
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{"id": "UniProtKB:Q8WUH1-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein Churchill isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8WUH1-2", "PR:Q8WUH1-2", "ENSEMBL:ENSP00000475473", "ENSEMBL:ENSP00000475473.2"], "information_content": 100.0}
{"id": "MONDO:0012977", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive nonsyndromic hearing loss 1B", "equivalent_identifiers": ["MONDO:0012977", "DOID:0110476", "OMIM:612645", "UMLS:C2675235", "MESH:C567213", "medgen:436381"], "information_content": 100.0}
{"id": "UniProtKB:Q99550-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "M-phase phosphoprotein 9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99550-1", "PR:Q99550-1", "ENSEMBL:ENSP00000475489", "ENSEMBL:ENSP00000475489.1"], "information_content": 100.0}
{"id": "NCBIGene:51503", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CWC15", "equivalent_identifiers": ["NCBIGene:51503", "ENSEMBL:ENSG00000150316", "HGNC:26939", "UMLS:C2239318", "UniProtKB:Q9P013", "PR:Q9P013", "ENSEMBL:ENSP00000475615", "ENSEMBL:ENSP00000475615.2", "UMLS:C4079670", "MESH:C000602891"], "information_content": 92.8}
{"id": "MONDO:0005630", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "actinobacillosis", "equivalent_identifiers": ["MONDO:0005630", "DOID:4974", "EFO:0007127", "UMLS:C0001247", "MESH:D000187", "SNOMEDCT:16140007"], "information_content": 100.0}
{"id": "NCBIGene:83941", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TM2D1", "equivalent_identifiers": ["NCBIGene:83941", "ENSEMBL:ENSG00000162604", "HGNC:24142", "OMIM:610080", "UMLS:C1864725", "UniProtKB:Q9BX74", "PR:Q9BX74", "ENSEMBL:ENSP00000360222", "ENSEMBL:ENSP00000360222.2", "ENSEMBL:ENSP00000475700", "ENSEMBL:ENSP00000475700.1", "UMLS:C1448037", "MESH:C431143"], "information_content": 100.0}
{"id": "MONDO:0011186", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 1F", "equivalent_identifiers": ["MONDO:0011186", "DOID:0110832", "OMIM:602083", "UMLS:C1865885", "MESH:C566586", "medgen:356393"], "information_content": 100.0}
{"id": "NCBIGene:53944", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSNK1G1", "equivalent_identifiers": ["NCBIGene:53944", "ENSEMBL:ENSG00000169118", "HGNC:2454", "OMIM:606274", "UMLS:C1413757", "UniProtKB:Q8IXA3", "ENSEMBL:ENSP00000476088", "ENSEMBL:ENSP00000476088.2", "UniProtKB:Q9HCP0", "PR:Q9HCP0", "UniProtKB:U3KQB3", "ENSEMBL:ENSP00000475724", "ENSEMBL:ENSP00000475724.1"]}
{"id": "UniProtKB:Q9P0N9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P0N9-1", "PR:Q9P0N9-1", "ENSEMBL:ENSP00000348813", "ENSEMBL:ENSP00000348813.4", "ENSEMBL:ENSP00000368602", "ENSEMBL:ENSP00000368602.3", "ENSEMBL:ENSP00000475727", "ENSEMBL:ENSP00000475727.1"], "information_content": 100.0}
{"id": "MONDO:0004555", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Angiomyolipoma", "equivalent_identifiers": ["MONDO:0004555", "DOID:8411", "EFO:1000312", "UMLS:C0241961", "MEDDRA:10077284", "NCIT:C3734", "NCIT:C3888", "SNOMEDCT:254921004", "medgen:69146", "HP:0006772"], "information_content": 85.5}
{"id": "UniProtKB:Q9Y5Z4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heme-binding protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5Z4-1", "PR:Q9Y5Z4-1", "ENSEMBL:ENSP00000475750", "ENSEMBL:ENSP00000475750.1"], "information_content": 100.0}
{"id": "MONDO:0850287", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "aspirin-induced respiratory disease", "equivalent_identifiers": ["MONDO:0850287", "DOID:0080822"], "information_content": 100.0}
{"id": "UniProtKB:Q9NRR8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CDC42 small effector protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRR8-1", "PR:Q9NRR8-1", "ENSEMBL:ENSP00000349773", "ENSEMBL:ENSP00000349773.4", "ENSEMBL:ENSP00000445647", "ENSEMBL:ENSP00000445647.1", "ENSEMBL:ENSP00000475845", "ENSEMBL:ENSP00000475845.1"], "information_content": 100.0}
{"id": "NCBIGene:26073", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLDIP2", "equivalent_identifiers": ["NCBIGene:26073", "ENSEMBL:ENSG00000004142", "HGNC:23781", "OMIM:611519", "UMLS:C1428254", "UniProtKB:B4DEM9", "ENSEMBL:ENSP00000477665", "ENSEMBL:ENSP00000477665.2", "UMLS:C1176109", "MESH:C473592", "UniProtKB:Q9Y2S7", "PR:Q9Y2S7", "ENSEMBL:ENSP00000475924", "ENSEMBL:ENSP00000475924.2"], "information_content": 92.8}
{"id": "MONDO:0010214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum variant type", "equivalent_identifiers": ["MONDO:0010214", "DOID:0110847", "OMIM:278750", "orphanet:90342", "UMLS:C1848410", "MESH:C536766", "NCIT:C141367", "medgen:376352"], "information_content": 100.0}
{"id": "NCBIGene:8701", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAH11", "equivalent_identifiers": ["NCBIGene:8701", "ENSEMBL:ENSG00000105877", "HGNC:2942", "OMIM:603339", "UMLS:C1414094", "UniProtKB:H9NAJ7", "UMLS:C1143517", "MESH:C465433", "UniProtKB:H9NAJ8", "UniProtKB:Q96DT5", "PR:Q96DT5", "ENSEMBL:ENSP00000475939", "ENSEMBL:ENSP00000475939.1", "UniProtKB:Q96NT7"], "information_content": 92.8}
{"id": "NCBIGene:98", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACYP2", "equivalent_identifiers": ["NCBIGene:98", "ENSEMBL:ENSG00000170634", "HGNC:180", "OMIM:102595", "UMLS:C1412176", "UniProtKB:A0A140VJD7", "UMLS:C4308343", "MESH:C000612927", "UniProtKB:E9PF46", "ENSEMBL:ENSP00000385674", "ENSEMBL:ENSP00000385674.2", "UniProtKB:F8WA34", "ENSEMBL:ENSP00000306448", "ENSEMBL:ENSP00000306448.5", "UniProtKB:P14621", "PR:P14621", "ENSEMBL:ENSP00000378161", "ENSEMBL:ENSP00000378161.3", "UniProtKB:U3KQL2", "ENSEMBL:ENSP00000475986", "ENSEMBL:ENSP00000475986.1"]}
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{"id": "NCBIGene:57418", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR18", "equivalent_identifiers": ["NCBIGene:57418", "ENSEMBL:ENSG00000065268", "HGNC:17956", "OMIM:620291", "UMLS:C1425202", "UniProtKB:Q9BV38", "PR:Q9BV38", "ENSEMBL:ENSP00000476117", "ENSEMBL:ENSP00000476117.3", "UMLS:C3181279", "MESH:C558249"], "information_content": 87.2}
{"id": "NCBIGene:11165", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NUDT3", "equivalent_identifiers": ["NCBIGene:11165", "ENSEMBL:ENSG00000272325", "HGNC:8050", "OMIM:609228", "UMLS:C1417881", "UniProtKB:O95989", "PR:O95989", "ENSEMBL:ENSP00000476119", "ENSEMBL:ENSP00000476119.1", "UMLS:C3849602"], "information_content": 100.0}
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{"id": "NCBIGene:84300", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UQCC2", "equivalent_identifiers": ["NCBIGene:84300", "ENSEMBL:ENSG00000137288", "HGNC:21237", "OMIM:614461", "UMLS:C1427441", "UniProtKB:Q9BRT2", "PR:Q9BRT2", "ENSEMBL:ENSP00000476140", "ENSEMBL:ENSP00000476140.1", "UMLS:C2745022", "MESH:C546538"], "information_content": 100.0}
{"id": "UniProtKB:P42685-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase FRK isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P42685-1", "PR:P42685-1", "ENSEMBL:ENSP00000476145", "ENSEMBL:ENSP00000476145.1"], "information_content": 100.0}
{"id": "UniProtKB:U3KQS2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "U3KQS2_HUMAN Solute carrier family 37 member 4 (trembl)", "equivalent_identifiers": ["UniProtKB:U3KQS2", "ENSEMBL:ENSP00000476176", "ENSEMBL:ENSP00000476176.2"]}
{"id": "UniProtKB:Q9NXA8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NAD-dependent protein deacylase sirtuin-5, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXA8-1", "PR:Q9NXA8-1", "ENSEMBL:ENSP00000380509", "ENSEMBL:ENSP00000380509.3", "ENSEMBL:ENSP00000476228", "ENSEMBL:ENSP00000476228.1", "ENSEMBL:ENSP00000505086", "ENSEMBL:ENSP00000505086.1", "ENSEMBL:ENSP00000505496", "ENSEMBL:ENSP00000505496.1"], "information_content": 100.0}
{"id": "NCBIGene:100170229", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRRM5", "equivalent_identifiers": ["NCBIGene:100170229", "ENSEMBL:ENSG00000226763", "HGNC:37248", "UMLS:C2828733", "UniProtKB:B3KS81", "PR:B3KS81", "ENSEMBL:ENSP00000414512", "ENSEMBL:ENSP00000414512.1", "ENSEMBL:ENSP00000476253", "ENSEMBL:ENSP00000476253.1"], "information_content": 100.0}
{"id": "NCBIGene:124359", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDYL2", "equivalent_identifiers": ["NCBIGene:124359", "ENSEMBL:ENSG00000166446", "HGNC:23030", "OMIM:618816", "UMLS:C1427863", "UniProtKB:Q8N8U2", "PR:Q8N8U2", "ENSEMBL:ENSP00000476295", "ENSEMBL:ENSP00000476295.1", "UMLS:C5772117", "MESH:C000723669"], "information_content": 100.0}
{"id": "NCBIGene:168620", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BHLHA15", "equivalent_identifiers": ["NCBIGene:168620", "ENSEMBL:ENSG00000180535", "HGNC:22265", "OMIM:608606", "UMLS:C1826425", "UniProtKB:Q7RTS1", "PR:Q7RTS1", "ENSEMBL:ENSP00000326391", "ENSEMBL:ENSP00000326391.2", "ENSEMBL:ENSP00000476312", "ENSEMBL:ENSP00000476312.1", "UMLS:C3177767", "MESH:C559697"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKT8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/WD repeat-containing protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKT8-1", "PR:Q9UKT8-1", "ENSEMBL:ENSP00000476369", "ENSEMBL:ENSP00000476369.1", "ENSEMBL:ENSP00000507010", "ENSEMBL:ENSP00000507010.1", "ENSEMBL:ENSP00000508157", "ENSEMBL:ENSP00000508157.1"], "information_content": 100.0}
{"id": "NCBIGene:642658", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCX", "equivalent_identifiers": ["NCBIGene:642658", "ENSEMBL:ENSG00000260428", "HGNC:32322", "OMIM:609067", "UMLS:C1822657", "UniProtKB:Q7RTU7", "PR:Q7RTU7", "ENSEMBL:ENSP00000476384", "ENSEMBL:ENSP00000476384.1", "UMLS:C1609644", "MESH:C093504"], "information_content": 100.0}
{"id": "UniProtKB:Q9NPI6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mRNA-decapping enzyme 1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPI6-1", "PR:Q9NPI6-1", "ENSEMBL:ENSP00000476386", "ENSEMBL:ENSP00000476386.1"], "information_content": 100.0}
{"id": "NCBIGene:51251", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NT5C3A", "equivalent_identifiers": ["NCBIGene:51251", "ENSEMBL:ENSG00000122643", "HGNC:17820", "OMIM:606224", "UMLS:C1425102", "UniProtKB:A0A090N7U2", "UniProtKB:Q9H0P0", "PR:Q9H0P0", "UMLS:C1439160", "MESH:C412794", "UniProtKB:X6RM59", "ENSEMBL:ENSP00000476480", "ENSEMBL:ENSP00000476480.2"]}
{"id": "UniProtKB:Q8NAP8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger and BTB domain-containing protein 8B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NAP8-1", "PR:Q8NAP8-1", "ENSEMBL:ENSP00000476499", "ENSEMBL:ENSP00000476499.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UWN0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ly6/PLAUR domain-containing protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWN0-1", "PR:Q6UWN0-1", "ENSEMBL:ENSP00000476510", "ENSEMBL:ENSP00000476510.1"], "information_content": 100.0}
{"id": "MONDO:0002922", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyoderma", "equivalent_identifiers": ["MONDO:0002922", "DOID:4223", "UMLS:C0034212", "UMLS:C1305936", "MESH:D011711", "MEDDRA:10012486", "MEDDRA:10037632", "MEDDRA:10037633", "SNOMEDCT:70759006", "medgen:18783", "icd11.foundation:1991248382", "ICD10:L08.0", "ICD9:686.0", "HP:0000999"], "information_content": 83.1}
{"id": "UniProtKB:Q92952-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small conductance calcium-activated potassium channel protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92952-1", "PR:Q92952-1", "ENSEMBL:ENSP00000476519", "ENSEMBL:ENSP00000476519.1", "ENSEMBL:ENSP00000507021", "ENSEMBL:ENSP00000507021.1"], "information_content": 100.0}
{"id": "NCBIGene:285513", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPRIN3", "equivalent_identifiers": ["NCBIGene:285513", "ENSEMBL:ENSG00000185477", "HGNC:27733", "OMIM:611241", "UMLS:C1825415", "UniProtKB:Q6ZVF9", "PR:Q6ZVF9", "ENSEMBL:ENSP00000328672", "ENSEMBL:ENSP00000328672.3", "ENSEMBL:ENSP00000476603", "ENSEMBL:ENSP00000476603.1", "ENSEMBL:ENSP00000520450", "ENSEMBL:ENSP00000520450.1"], "information_content": 92.8}
{"id": "NCBIGene:340526", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTL5", "equivalent_identifiers": ["NCBIGene:340526", "ENSEMBL:ENSG00000242732", "HGNC:29430", "OMIM:301135", "UMLS:C1538834", "UniProtKB:Q5HYW3", "PR:Q5HYW3", "ENSEMBL:ENSP00000418667", "ENSEMBL:ENSP00000418667.1", "ENSEMBL:ENSP00000476792", "ENSEMBL:ENSP00000476792.1"], "information_content": 100.0}
{"id": "NCBIGene:8034", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A16", "equivalent_identifiers": ["NCBIGene:8034", "ENSEMBL:ENSG00000122912", "HGNC:10986", "OMIM:139080", "UMLS:C1420157", "UniProtKB:B4DHV9", "UMLS:C0656154", "MESH:C078631", "UniProtKB:B4DPV4", "UniProtKB:P16260", "PR:P16260", "ENSEMBL:ENSP00000476815", "ENSEMBL:ENSP00000476815.1"], "information_content": 100.0}
{"id": "NCBIGene:388630", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRABD2B", "equivalent_identifiers": ["NCBIGene:388630", "ENSEMBL:ENSG00000269113", "HGNC:44200", "OMIM:614913", "UMLS:C3543894", "UniProtKB:A6NFA1", "PR:A6NFA1", "ENSEMBL:ENSP00000476820", "ENSEMBL:ENSP00000476820.1", "UMLS:C4045235", "MESH:C000595448"], "information_content": 95.4}
{"id": "NCBIGene:386675", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRTAP10-7", "equivalent_identifiers": ["NCBIGene:386675", "ENSEMBL:ENSG00000272804", "HGNC:22970", "UMLS:C1427823", "UniProtKB:P60409", "PR:P60409", "ENSEMBL:ENSP00000476821", "ENSEMBL:ENSP00000476821.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IXW5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IXW5-1", "PR:Q8IXW5-1", "ENSEMBL:ENSP00000476948", "ENSEMBL:ENSP00000476948.1"], "information_content": 100.0}
{"id": "NCBIGene:643008", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM5", "equivalent_identifiers": ["NCBIGene:643008", "ENSEMBL:ENSG00000204323", "HGNC:40030", "UMLS:C3543512", "UniProtKB:Q71RC9", "PR:Q71RC9", "ENSEMBL:ENSP00000364363", "ENSEMBL:ENSP00000364363.3", "ENSEMBL:ENSP00000477017", "ENSEMBL:ENSP00000477017.1", "UMLS:C4761373"], "information_content": 100.0}
{"id": "NCBIGene:23732", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FRRS1L", "equivalent_identifiers": ["NCBIGene:23732", "ENSEMBL:ENSG00000260230", "HGNC:1362", "OMIM:604574", "UMLS:C1413032", "UniProtKB:Q9P0K9", "PR:Q9P0K9", "ENSEMBL:ENSP00000477141", "ENSEMBL:ENSP00000477141.2", "UMLS:C1309364", "MESH:C403268"], "information_content": 100.0}
{"id": "UniProtKB:O00213-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amyloid beta precursor protein binding family B member 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00213-1", "PR:O00213-1", "ENSEMBL:ENSP00000477213", "ENSEMBL:ENSP00000477213.1"], "information_content": 100.0}
{"id": "NCBIGene:219477", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR8J1", "equivalent_identifiers": ["NCBIGene:219477", "ENSEMBL:ENSG00000172487", "HGNC:14855", "UMLS:C1423000", "UniProtKB:Q8NGP2", "PR:Q8NGP2", "ENSEMBL:ENSP00000304060", "ENSEMBL:ENSP00000304060.3", "ENSEMBL:ENSP00000460206", "ENSEMBL:ENSP00000460206.1", "ENSEMBL:ENSP00000477259", "ENSEMBL:ENSP00000477259.3", "ENSEMBL:ENSP00000517455", "ENSEMBL:ENSP00000517455.1", "ENSEMBL:ENSP00000517456", "ENSEMBL:ENSP00000517456.1"], "information_content": 100.0}
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{"id": "MONDO:0010870", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "tibial muscular dystrophy", "equivalent_identifiers": ["MONDO:0010870", "DOID:0111078", "OMIM:600334", "orphanet:609", "UMLS:C1450052", "UMLS:C1838244", "SNOMEDCT:698846009", "medgen:333047"], "information_content": 100.0}
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{"id": "UniProtKB:Q8N3J5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase Mn(2+)-dependent 1K isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3J5-1", "PR:Q8N3J5-1", "ENSEMBL:ENSP00000477341", "ENSEMBL:ENSP00000477341.1"], "information_content": 100.0}
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{"id": "MONDO:0012087", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 4", "equivalent_identifiers": ["MONDO:0012087", "DOID:0110614", "OMIM:608646", "UMLS:C1837616", "MESH:C535279", "medgen:324841"], "information_content": 100.0}
{"id": "MONDO:0012844", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "primary ciliary dyskinesia 8", "equivalent_identifiers": ["MONDO:0012844", "DOID:0110616", "OMIM:612274", "UMLS:C2677085", "MESH:C567373", "medgen:393653"], "information_content": 100.0}
{"id": "NCBIGene:3763", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNJ6", "equivalent_identifiers": ["NCBIGene:3763", "ENSEMBL:ENSG00000157542", "HGNC:6267", "OMIM:600877", "UMLS:C1416588", "UniProtKB:P48051", "PR:P48051", "ENSEMBL:ENSP00000477437", "ENSEMBL:ENSP00000477437.1", "ENSEMBL:ENSP00000493772", "ENSEMBL:ENSP00000493772.1", "UMLS:C1437994", "MESH:C094401"], "information_content": 100.0}
{"id": "NCBIGene:79490", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10G6", "equivalent_identifiers": ["NCBIGene:79490", "ENSEMBL:ENSG00000198674", "HGNC:14836", "UMLS:C1422981", "UniProtKB:A0A126GVD6", "UniProtKB:Q8NH81", "PR:Q8NH81", "ENSEMBL:ENSP00000477445", "ENSEMBL:ENSP00000477445.1"], "information_content": 100.0}
{"id": "NCBIGene:2904", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRIN2B", "equivalent_identifiers": ["NCBIGene:2904", "ENSEMBL:ENSG00000273079", "HGNC:4586", "OMIM:138252", "UMLS:C1415300", "UniProtKB:A0A8D9PHB2", "UniProtKB:Q13224", "PR:Q13224", "ENSEMBL:ENSP00000477455", "ENSEMBL:ENSP00000477455.1", "ENSEMBL:ENSP00000486677", "ENSEMBL:ENSP00000486677.3", "UMLS:C1738978"], "information_content": 88.2}
{"id": "UniProtKB:Q5JPE7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BOS complex subunit NOMO2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JPE7-1", "PR:Q5JPE7-1", "ENSEMBL:ENSP00000370883", "ENSEMBL:ENSP00000370883.3", "ENSEMBL:ENSP00000477502", "ENSEMBL:ENSP00000477502.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6W3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal oxygenase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6W3-1", "PR:Q9H6W3-1", "ENSEMBL:ENSP00000477507", "ENSEMBL:ENSP00000477507.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86T75-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NBPF family member NBPF11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86T75-1", "PR:Q86T75-1", "ENSEMBL:ENSP00000477509", "ENSEMBL:ENSP00000477509.1", "ENSEMBL:ENSP00000484213", "ENSEMBL:ENSP00000484213.1", "ENSEMBL:ENSP00000507808", "ENSEMBL:ENSP00000507808.1"], "information_content": 100.0}
{"id": "MONDO:0018054", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial atrial fibrillation", "equivalent_identifiers": ["MONDO:0018054", "DOID:0050650", "OMIM.PS:608583", "orphanet:334", "UMLS:C3468561", "MEDDRA:10088317", "SNOMEDCT:715395008", "medgen:894635", "icd11.foundation:45855978"], "information_content": 80.6}
{"id": "NCBIGene:139189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DGKK", "equivalent_identifiers": ["NCBIGene:139189", "ENSEMBL:ENSG00000274588", "HGNC:32395", "OMIM:300837", "UMLS:C1824929", "UniProtKB:Q5KSL6", "PR:Q5KSL6", "ENSEMBL:ENSP00000477515", "ENSEMBL:ENSP00000477515.1", "UMLS:C5196734", "MESH:C000629953"], "information_content": 95.4}
{"id": "NCBIGene:8348", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BC17", "equivalent_identifiers": ["NCBIGene:8348", "ENSEMBL:ENSG00000274641", "HGNC:4758", "OMIM:602808", "UMLS:C5202826", "UniProtKB:P23527", "PR:P23527", "ENSEMBL:ENSP00000477527", "ENSEMBL:ENSP00000477527.2", "UMLS:C5202783"], "information_content": 82.1}
{"id": "UniProtKB:P55209-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleosome assembly protein 1-like 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P55209-1", "PR:P55209-1", "ENSEMBL:ENSP00000376947", "ENSEMBL:ENSP00000376947.3", "ENSEMBL:ENSP00000477538", "ENSEMBL:ENSP00000477538.1"], "information_content": 100.0}
{"id": "NCBIGene:3062", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HCRTR2", "equivalent_identifiers": ["NCBIGene:3062", "ENSEMBL:ENSG00000137252", "HGNC:4849", "OMIM:602393", "UMLS:C1415502", "UniProtKB:O43614", "PR:O43614", "ENSEMBL:ENSP00000359899", "ENSEMBL:ENSP00000359899.3", "ENSEMBL:ENSP00000477548", "ENSEMBL:ENSP00000477548.1", "UMLS:C3711356", "MESH:C578626", "UniProtKB:S4X0W3"], "information_content": 100.0}
{"id": "UniProtKB:Q95460-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "major histocompatibility complex class I-related gene protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q95460-1", "PR:Q95460-1", "ENSEMBL:ENSP00000356552", "ENSEMBL:ENSP00000356552.5", "ENSEMBL:ENSP00000477563", "ENSEMBL:ENSP00000477563.1"], "information_content": 100.0}
{"id": "NCBIGene:11283", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP4F8", "equivalent_identifiers": ["NCBIGene:11283", "ENSEMBL:ENSG00000186526", "HGNC:2648", "OMIM:611545", "UMLS:C1413891", "UniProtKB:P98187", "PR:P98187", "ENSEMBL:ENSP00000477567", "ENSEMBL:ENSP00000477567.1", "UMLS:C0907820", "MESH:C120451"], "information_content": 100.0}
{"id": "NCBIGene:3163", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMOX2", "equivalent_identifiers": ["NCBIGene:3163", "ENSEMBL:ENSG00000103415", "HGNC:5014", "OMIM:141251", "UMLS:C1415620", "UniProtKB:A0A087WT44", "ENSEMBL:ENSP00000477572", "ENSEMBL:ENSP00000477572.1", "ENSEMBL:ENSP00000480515", "ENSEMBL:ENSP00000480515.1", "UMLS:C1739019", "UniProtKB:B3KSE0", "UniProtKB:P30519", "PR:P30519"]}
{"id": "NCBIGene:6716", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRD5A2", "equivalent_identifiers": ["NCBIGene:6716", "ENSEMBL:ENSG00000277893", "HGNC:11285", "OMIM:607306", "UMLS:C0919429", "UniProtKB:P31213", "PR:P31213", "ENSEMBL:ENSP00000477587", "ENSEMBL:ENSP00000477587.1", "UMLS:C2933072", "MESH:C548468"], "information_content": 95.4}
{"id": "NCBIGene:8895", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPNE3", "equivalent_identifiers": ["NCBIGene:8895", "ENSEMBL:ENSG00000085719", "HGNC:2316", "OMIM:604207", "UMLS:C1413677", "UniProtKB:O75131", "PR:O75131", "ENSEMBL:ENSP00000477590", "ENSEMBL:ENSP00000477590.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BW60-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "very long chain fatty acid elongase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BW60-1", "PR:Q9BW60-1", "ENSEMBL:ENSP00000361536", "ENSEMBL:ENSP00000361536.3", "ENSEMBL:ENSP00000477602", "ENSEMBL:ENSP00000477602.1"], "information_content": 100.0}
{"id": "UniProtKB:Q13490-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "baculoviral IAP repeat-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q13490-1", "PR:Q13490-1", "ENSEMBL:ENSP00000227758", "ENSEMBL:ENSP00000227758.2", "ENSEMBL:ENSP00000477613", "ENSEMBL:ENSP00000477613.1"], "information_content": 100.0}
{"id": "NCBIGene:147798", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMC4", "equivalent_identifiers": ["NCBIGene:147798", "ENSEMBL:ENSG00000167608", "HGNC:22998", "OMIM:617181", "UMLS:C1427847", "UniProtKB:A0A087WT65", "ENSEMBL:ENSP00000477627", "ENSEMBL:ENSP00000477627.1", "UMLS:C4506187", "MESH:C000616533", "UniProtKB:A0A087WVI4", "ENSEMBL:ENSP00000479458", "ENSEMBL:ENSP00000479458.1", "UniProtKB:Q7Z404", "PR:Q7Z404"]}
{"id": "UniProtKB:Q9UJ70-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-acetyl-D-glucosamine kinase isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UJ70-2", "PR:Q9UJ70-2", "ENSEMBL:ENSP00000389087", "ENSEMBL:ENSP00000389087.2", "ENSEMBL:ENSP00000477639", "ENSEMBL:ENSP00000477639.1"], "information_content": 100.0}
{"id": "MONDO:0014945", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myopathy, distal, with rimmed vacuoles", "equivalent_identifiers": ["MONDO:0014945", "DOID:0081363", "OMIM:617158", "UMLS:C5399975", "medgen:1728314"], "information_content": 100.0}
{"id": "UniProtKB:P0DP58-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ly-6/neurotoxin-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0DP58-1", "PR:P0DP58-1", "ENSEMBL:ENSP00000477648", "ENSEMBL:ENSP00000477648.1", "ENSEMBL:ENSP00000478390", "ENSEMBL:ENSP00000478390.1", "ENSEMBL:ENSP00000478402", "ENSEMBL:ENSP00000478402.1", "ENSEMBL:ENSP00000498325", "ENSEMBL:ENSP00000498325.1"], "information_content": 100.0}
{"id": "NCBIGene:11072", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUSP14", "equivalent_identifiers": ["NCBIGene:11072", "ENSEMBL:ENSG00000276023", "HGNC:17007", "OMIM:606618", "UMLS:C1424682", "UniProtKB:O95147", "PR:O95147", "ENSEMBL:ENSP00000477653", "ENSEMBL:ENSP00000477653.1", "ENSEMBL:ENSP00000478406", "ENSEMBL:ENSP00000478406.1", "ENSEMBL:ENSP00000478595", "ENSEMBL:ENSP00000478595.1", "ENSEMBL:ENSP00000484091", "ENSEMBL:ENSP00000484091.1", "ENSEMBL:ENSP00000487886", "ENSEMBL:ENSP00000487886.1", "ENSEMBL:ENSP00000488882", "ENSEMBL:ENSP00000488882.1", "UMLS:C1432967", "MESH:C498843", "UniProtKB:Q6FI36"], "information_content": 95.4}
{"id": "UniProtKB:Q8IYD9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lung adenoma susceptibility protein 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYD9-2", "PR:Q8IYD9-2", "ENSEMBL:ENSP00000372368", "ENSEMBL:ENSP00000372368.4", "ENSEMBL:ENSP00000477654", "ENSEMBL:ENSP00000477654.1"], "information_content": 100.0}
{"id": "NCBIGene:10062", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NR1H3", "equivalent_identifiers": ["NCBIGene:10062", "ENSEMBL:ENSG00000025434", "HGNC:7966", "OMIM:602423", "UMLS:C1417824", "UniProtKB:B4DXU5", "ENSEMBL:ENSP00000477707", "ENSEMBL:ENSP00000477707.1", "UniProtKB:B5MBY7", "ENSEMBL:ENSP00000385073", "ENSEMBL:ENSP00000385073.1", "UniProtKB:F1D8N1", "UniProtKB:Q13133", "PR:Q13133", "UMLS:C4308246", "MESH:C000605213"]}
{"id": "UniProtKB:Q9BZB8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoplasmic polyadenylation element-binding protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9BZB8-3", "PR:Q9BZB8-3", "ENSEMBL:ENSP00000477715", "ENSEMBL:ENSP00000477715.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A8J9BYE6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A8J9BYE6_HUMAN KN motif and ankyrin repeat domains 1 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A8J9BYE6", "ENSEMBL:ENSP00000477725", "ENSEMBL:ENSP00000477725.2"]}
{"id": "NCBIGene:7178", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPT1", "equivalent_identifiers": ["NCBIGene:7178", "ENSEMBL:ENSG00000133112", "HGNC:12022", "OMIM:600763", "UMLS:C1420882", "UniProtKB:A0A0B4J2C3", "ENSEMBL:ENSP00000477781", "ENSEMBL:ENSP00000477781.1", "UniProtKB:P13693", "PR:P13693", "UMLS:C1100850", "MESH:C000715647"]}
{"id": "NCBIGene:93190", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP107", "equivalent_identifiers": ["NCBIGene:93190", "ENSEMBL:ENSG00000157330", "HGNC:28567", "UMLS:C1823774", "UniProtKB:Q5VUY5", "ENSEMBL:ENSP00000365383", "ENSEMBL:ENSP00000365383.3", "UniProtKB:Q8N1D5", "PR:Q8N1D5", "ENSEMBL:ENSP00000477802", "ENSEMBL:ENSP00000477802.1"], "information_content": 100.0}
{"id": "NCBIGene:171558", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTCRA", "equivalent_identifiers": ["NCBIGene:171558", "ENSEMBL:ENSG00000171611", "HGNC:21290", "OMIM:606817", "UMLS:C1427472", "UniProtKB:A0A087WTE9", "ENSEMBL:ENSP00000477815", "ENSEMBL:ENSP00000477815.1", "UMLS:C1568437", "UniProtKB:Q6ISU1", "PR:Q6ISU1", "UniProtKB:Q6ZNR1"]}
{"id": "NCBIGene:3975", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LHX1", "equivalent_identifiers": ["NCBIGene:3975", "ENSEMBL:ENSG00000273706", "HGNC:6593", "OMIM:601999", "UMLS:C1334337", "UniProtKB:P48742", "PR:P48742", "ENSEMBL:ENSP00000477829", "ENSEMBL:ENSP00000477829.1", "ENSEMBL:ENSP00000484449", "ENSEMBL:ENSP00000484449.1", "UMLS:C1442798", "MESH:C085473", "UniProtKB:Q58F18"], "information_content": 95.4}
{"id": "UniProtKB:Q9UDV7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 282 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UDV7-1", "PR:Q9UDV7-1", "ENSEMBL:ENSP00000477841", "ENSEMBL:ENSP00000477841.1", "ENSEMBL:ENSP00000520909", "ENSEMBL:ENSP00000520909.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCF0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 18 member C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCF0-1", "PR:Q8NCF0-1", "ENSEMBL:ENSP00000326538", "ENSEMBL:ENSP00000326538.8", "ENSEMBL:ENSP00000444875", "ENSEMBL:ENSP00000444875.2", "ENSEMBL:ENSP00000455920", "ENSEMBL:ENSP00000455920.2", "ENSEMBL:ENSP00000477846", "ENSEMBL:ENSP00000477846.1"], "information_content": 100.0}
{"id": "NCBIGene:26574", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AATF", "equivalent_identifiers": ["NCBIGene:26574", "ENSEMBL:ENSG00000275700", "HGNC:19235", "OMIM:608463", "UMLS:C1426102", "UniProtKB:A0A7P0TAR0", "ENSEMBL:ENSP00000506264", "ENSEMBL:ENSP00000506264.1", "UniProtKB:A0A7P0TBG4", "ENSEMBL:ENSP00000506655", "ENSEMBL:ENSP00000506655.1", "UniProtKB:Q9NY61", "PR:Q9NY61", "ENSEMBL:ENSP00000477848", "ENSEMBL:ENSP00000477848.1", "ENSEMBL:ENSP00000481894", "ENSEMBL:ENSP00000481894.1", "UMLS:C1259268", "UMLS:C2985157", "MESH:C402637"], "information_content": 95.4}
{"id": "NCBIGene:728226", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GGTLC3", "equivalent_identifiers": ["NCBIGene:728226", "ENSEMBL:ENSG00000274252", "HGNC:33426", "OMIM:612340", "UMLS:C2676726", "UniProtKB:B5MD39", "ENSEMBL:ENSP00000477856", "ENSEMBL:ENSP00000477856.1"]}
{"id": "UniProtKB:O94842-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TOX high mobility group box family member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O94842-1", "PR:O94842-1", "ENSEMBL:ENSP00000393080", "ENSEMBL:ENSP00000393080.3", "ENSEMBL:ENSP00000477868", "ENSEMBL:ENSP00000477868.1"], "information_content": 100.0}
{"id": "NCBIGene:8369", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H4C7", "equivalent_identifiers": ["NCBIGene:8369", "ENSEMBL:ENSG00000275663", "HGNC:4792", "OMIM:602832", "UMLS:C1415452", "UniProtKB:Q99525", "PR:Q99525", "ENSEMBL:ENSP00000477870", "ENSEMBL:ENSP00000477870.2"], "information_content": 100.0}
{"id": "NCBIGene:100862671", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM265", "equivalent_identifiers": ["NCBIGene:100862671", "ENSEMBL:ENSG00000281991", "HGNC:51241", "UMLS:C3892003", "UniProtKB:A0A087WTH1", "PR:A0A087WTH1", "ENSEMBL:ENSP00000477871", "ENSEMBL:ENSP00000477871.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVW6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AT-rich interactive domain-containing protein 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVW6-1", "PR:Q8IVW6-1", "ENSEMBL:ENSP00000477878", "ENSEMBL:ENSP00000477878.1"], "information_content": 100.0}
{"id": "NCBIGene:8342", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BC14", "equivalent_identifiers": ["NCBIGene:8342", "ENSEMBL:ENSG00000273703", "HGNC:4750", "OMIM:602802", "UMLS:C5202824", "UniProtKB:Q99879", "PR:Q99879", "ENSEMBL:ENSP00000477907", "ENSEMBL:ENSP00000477907.2", "UMLS:C5202742"], "information_content": 82.1}
{"id": "NCBIGene:6348", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL3", "equivalent_identifiers": ["NCBIGene:6348", "ENSEMBL:ENSG00000277632", "HGNC:10627", "OMIM:182283", "UMLS:C1332690", "UniProtKB:A0N0R1", "UniProtKB:P10147", "PR:P10147", "ENSEMBL:ENSP00000477908", "ENSEMBL:ENSP00000477908.1", "ENSEMBL:ENSP00000480753", "ENSEMBL:ENSP00000480753.1", "ENSEMBL:ENSP00000483712", "ENSEMBL:ENSP00000483712.1", "UMLS:C1871788", "MESH:C515429"], "information_content": 88.2}
{"id": "NCBIGene:100527949", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GIMAP1-GIMAP5", "equivalent_identifiers": ["NCBIGene:100527949", "ENSEMBL:ENSG00000281887", "HGNC:51257", "UMLS:C3889214", "UniProtKB:A0A087WTJ2", "ENSEMBL:ENSP00000477920", "ENSEMBL:ENSP00000477920.1"]}
{"id": "NCBIGene:10734", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STAG3", "equivalent_identifiers": ["NCBIGene:10734", "ENSEMBL:ENSG00000066923", "HGNC:11356", "OMIM:608489", "UMLS:C1420450", "UniProtKB:D6W5U7", "ENSEMBL:ENSP00000477973", "ENSEMBL:ENSP00000477973.1", "UMLS:C1438875", "MESH:C406153", "UniProtKB:Q9UJ98", "PR:Q9UJ98"]}
{"id": "UniProtKB:P0DPF3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NBPF family member NBPF9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0DPF3-1", "PR:P0DPF3-1", "ENSEMBL:ENSP00000477979", "ENSEMBL:ENSP00000477979.1", "ENSEMBL:ENSP00000513601", "ENSEMBL:ENSP00000513601.1", "ENSEMBL:ENSP00000513968", "ENSEMBL:ENSP00000513968.1"], "information_content": 100.0}
{"id": "UniProtKB:O95258-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "brain mitochondrial carrier protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O95258-3", "PR:O95258-3", "ENSEMBL:ENSP00000342797", "ENSEMBL:ENSP00000342797.3", "ENSEMBL:ENSP00000477981", "ENSEMBL:ENSP00000477981.1"], "information_content": 100.0}
{"id": "UniProtKB:P29475-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nitric oxide synthase 1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P29475-5", "PR:P29475-5", "ENSEMBL:ENSP00000337459", "ENSEMBL:ENSP00000337459.4", "ENSEMBL:ENSP00000477999", "ENSEMBL:ENSP00000477999.1"], "information_content": 100.0}
{"id": "MONDO:0013293", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated microphthalmia 6", "equivalent_identifiers": ["MONDO:0013293", "DOID:0060835", "OMIM:613517", "UMLS:C3150757", "medgen:462107", "ICD10:Q11.0"], "information_content": 100.0}
{"id": "NCBIGene:6360", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL16", "equivalent_identifiers": ["NCBIGene:6360", "ENSEMBL:ENSG00000275152", "HGNC:10614", "OMIM:601394", "UMLS:C1419876", "UniProtKB:O15467", "PR:O15467", "ENSEMBL:ENSP00000478024", "ENSEMBL:ENSP00000478024.1", "ENSEMBL:ENSP00000482168", "ENSEMBL:ENSP00000482168.1", "UMLS:C1435143", "MESH:C481939"], "information_content": 95.4}
{"id": "NCBIGene:653145", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANXA8", "equivalent_identifiers": ["NCBIGene:653145", "ENSEMBL:ENSG00000265190", "HGNC:546", "OMIM:602396", "UMLS:C1332096", "UniProtKB:A0A087WTN9", "ENSEMBL:ENSP00000478026", "ENSEMBL:ENSP00000478026.1", "UMLS:C5196643", "MESH:C000629762", "UniProtKB:B4DTB3", "UniProtKB:Q8N8J2"]}
{"id": "NCBIGene:6786", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STIM1", "equivalent_identifiers": ["NCBIGene:6786", "ENSEMBL:ENSG00000167323", "HGNC:11386", "OMIM:605921", "UMLS:C1335879", "UniProtKB:A0A8V8TMF0", "ENSEMBL:ENSP00000514028", "ENSEMBL:ENSP00000514028.1", "UniProtKB:A0A8V8TMG1", "ENSEMBL:ENSP00000514024", "ENSEMBL:ENSP00000514024.1", "UniProtKB:A0A8V8TNW0", "ENSEMBL:ENSP00000514025", "ENSEMBL:ENSP00000514025.1", "UniProtKB:A0A8V8TP73", "ENSEMBL:ENSP00000514027", "ENSEMBL:ENSP00000514027.1", "UniProtKB:E9PRZ7", "ENSEMBL:ENSP00000432210", "ENSEMBL:ENSP00000432210.2", "ENSEMBL:ENSP00000514026", "ENSEMBL:ENSP00000514026.1", "UniProtKB:G0XQ39", "ENSEMBL:ENSP00000478059", "ENSEMBL:ENSP00000478059.1", "UniProtKB:H0YDB2", "ENSEMBL:ENSP00000433266", "ENSEMBL:ENSP00000433266.2", "UniProtKB:Q13586", "PR:Q13586", "UMLS:C1430594", "MESH:C103530"]}
{"id": "NCBIGene:4082", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MARCKS", "equivalent_identifiers": ["NCBIGene:4082", "ENSEMBL:ENSG00000277443", "HGNC:6759", "OMIM:177061", "UMLS:C1416956", "UniProtKB:P29966", "PR:P29966", "ENSEMBL:ENSP00000478061", "ENSEMBL:ENSP00000478061.1", "UMLS:C0378964", "MESH:C000619710", "UniProtKB:Q6NVI1"], "information_content": 87.2}
{"id": "UniProtKB:Q9NXE8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pre-mRNA-splicing factor CWC25 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NXE8-1", "PR:Q9NXE8-1", "ENSEMBL:ENSP00000477799", "ENSEMBL:ENSP00000477799.1", "ENSEMBL:ENSP00000478070", "ENSEMBL:ENSP00000478070.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5THJ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intermembrane lipid transfer protein VPS13D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5THJ4-1", "PR:Q5THJ4-1", "ENSEMBL:ENSP00000478104", "ENSEMBL:ENSP00000478104.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15369-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "elongin-C isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15369-1", "PR:Q15369-1", "ENSEMBL:ENSP00000284811", "ENSEMBL:ENSP00000284811.8", "ENSEMBL:ENSP00000428074", "ENSEMBL:ENSP00000428074.1", "ENSEMBL:ENSP00000428171", "ENSEMBL:ENSP00000428171.1", "ENSEMBL:ENSP00000428334", "ENSEMBL:ENSP00000428334.1", "ENSEMBL:ENSP00000429906", "ENSEMBL:ENSP00000429906.1", "ENSEMBL:ENSP00000478121", "ENSEMBL:ENSP00000478121.1", "ENSEMBL:ENSP00000509184", "ENSEMBL:ENSP00000509184.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A087WTW5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A087WTW5_HUMAN CASP8-associated protein 2 (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A087WTW5", "ENSEMBL:ENSP00000478179", "ENSEMBL:ENSP00000478179.2"]}
{"id": "NCBIGene:1408", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRY2", "equivalent_identifiers": ["NCBIGene:1408", "ENSEMBL:ENSG00000121671", "HGNC:2385", "OMIM:603732", "UMLS:C1413725", "UniProtKB:A0A0D2X7Z3", "ENSEMBL:ENSP00000406751", "ENSEMBL:ENSP00000406751.2", "ENSEMBL:ENSP00000478187", "ENSEMBL:ENSP00000478187.1", "UMLS:C1506394", "MESH:C538966", "UniProtKB:A2I2P1", "UniProtKB:Q49AN0", "PR:Q49AN0", "UMLS:C3813555"]}
{"id": "UniProtKB:Q92667-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A-kinase anchor protein 1, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92667-1", "PR:Q92667-1", "ENSEMBL:ENSP00000337736", "ENSEMBL:ENSP00000337736.3", "ENSEMBL:ENSP00000443139", "ENSEMBL:ENSP00000443139.1", "ENSEMBL:ENSP00000459895", "ENSEMBL:ENSP00000459895.1", "ENSEMBL:ENSP00000459968", "ENSEMBL:ENSP00000459968.1", "ENSEMBL:ENSP00000478212", "ENSEMBL:ENSP00000478212.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3C7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gametogenetin-binding protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3C7-1", "PR:Q9H3C7-1", "ENSEMBL:ENSP00000478220", "ENSEMBL:ENSP00000478220.1", "ENSEMBL:ENSP00000478954", "ENSEMBL:ENSP00000478954.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A087WTZ4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A087WTZ4_HUMAN TAR DNA binding protein (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A087WTZ4", "ENSEMBL:ENSP00000478249", "ENSEMBL:ENSP00000478249.1"]}
{"id": "NCBIGene:25902", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTHFD1L", "equivalent_identifiers": ["NCBIGene:25902", "ENSEMBL:ENSG00000120254", "HGNC:21055", "OMIM:611427", "UMLS:C1538020", "UniProtKB:A0A087WVM4", "ENSEMBL:ENSP00000479539", "ENSEMBL:ENSP00000479539.1", "UniProtKB:B2RD24", "UniProtKB:B7ZM99", "ENSEMBL:ENSP00000478253", "ENSEMBL:ENSP00000478253.1", "UniProtKB:Q6UB35", "PR:Q6UB35", "UMLS:C2985255"]}
{"id": "UniProtKB:P08183-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent translocase ABCB1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P08183-1", "PR:P08183-1", "ENSEMBL:ENSP00000265724", "ENSEMBL:ENSP00000265724.3", "ENSEMBL:ENSP00000478255", "ENSEMBL:ENSP00000478255.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMN8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclin-I2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMN8-2", "PR:Q6ZMN8-2", "ENSEMBL:ENSP00000478257", "ENSEMBL:ENSP00000478257.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5G0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protocadherin gamma-B5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5G0-1", "PR:Q9Y5G0-1", "ENSEMBL:ENSP00000478258", "ENSEMBL:ENSP00000478258.1"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000478289", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000478289", "equivalent_identifiers": ["ENSEMBL:ENSP00000478289"]}
{"id": "NCBIGene:653464", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRGAP2C", "equivalent_identifiers": ["NCBIGene:653464", "ENSEMBL:ENSG00000171943", "HGNC:30584", "OMIM:614704", "UMLS:C3469873", "UniProtKB:P0DJJ0", "PR:P0DJJ0", "ENSEMBL:ENSP00000478290", "ENSEMBL:ENSP00000478290.1", "UMLS:C5771995", "MESH:C000723143"], "information_content": 95.4}
{"id": "UniProtKB:Q8TCT7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal peptide peptidase-like 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCT7-1", "PR:Q8TCT7-1", "ENSEMBL:ENSP00000478298", "ENSEMBL:ENSP00000478298.1"], "information_content": 100.0}
{"id": "NCBIGene:5434", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR2E", "equivalent_identifiers": ["NCBIGene:5434", "ENSEMBL:ENSG00000099817", "HGNC:9192", "OMIM:180664", "UMLS:C1418743", "UniProtKB:B4DJ89", "UMLS:C1870624", "MESH:C517511", "UniProtKB:E5KT65", "UniProtKB:P19388", "PR:P19388", "ENSEMBL:ENSP00000464739", "ENSEMBL:ENSP00000464739.1", "ENSEMBL:ENSP00000478303", "ENSEMBL:ENSP00000478303.1", "ENSEMBL:ENSP00000485021", "ENSEMBL:ENSP00000485021.1"], "information_content": 92.8}
{"id": "UniProtKB:Q9NWM0-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermine oxidase isoform 6 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWM0-6", "PR:Q9NWM0-6", "ENSEMBL:ENSP00000478305", "ENSEMBL:ENSP00000478305.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0E4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor-interacting protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0E4-1", "PR:Q9C0E4-1", "ENSEMBL:ENSP00000478352", "ENSEMBL:ENSP00000478352.1"], "information_content": 100.0}
{"id": "NCBIGene:344167", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXI3", "equivalent_identifiers": ["NCBIGene:344167", "ENSEMBL:ENSG00000214336", "HGNC:35123", "OMIM:612351", "UMLS:C2676509", "UniProtKB:A8MTJ6", "PR:A8MTJ6", "ENSEMBL:ENSP00000478384", "ENSEMBL:ENSP00000478384.2"], "information_content": 100.0}
{"id": "NCBIGene:80185", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TTI2", "equivalent_identifiers": ["NCBIGene:80185", "ENSEMBL:ENSG00000129696", "HGNC:26262", "OMIM:614426", "UMLS:C1824250", "UniProtKB:E5RIH5", "ENSEMBL:ENSP00000428401", "ENSEMBL:ENSP00000428401.1", "UMLS:C2975652", "MESH:C552070", "UniProtKB:Q6NXR4", "PR:Q6NXR4", "ENSEMBL:ENSP00000353971", "ENSEMBL:ENSP00000353971.5", "ENSEMBL:ENSP00000411169", "ENSEMBL:ENSP00000411169.3", "ENSEMBL:ENSP00000478396", "ENSEMBL:ENSP00000478396.1"], "information_content": 95.4}
{"id": "NCBIGene:101060389", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBC1D3D", "equivalent_identifiers": ["NCBIGene:101060389", "ENSEMBL:ENSG00000274419", "HGNC:28944", "OMIM:610807", "UMLS:C1823233", "UniProtKB:A0A087WVF3", "PR:A0A087WVF3", "ENSEMBL:ENSP00000478426", "ENSEMBL:ENSP00000478426.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UPR0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive phospholipase C-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UPR0-1", "PR:Q9UPR0-1", "ENSEMBL:ENSP00000478458", "ENSEMBL:ENSP00000478458.1", "ENSEMBL:ENSP00000492839", "ENSEMBL:ENSP00000492839.1"], "information_content": 100.0}
{"id": "UniProtKB:Q969M7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NEDD8-conjugating enzyme UBE2F isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q969M7-1", "PR:Q969M7-1", "ENSEMBL:ENSP00000272930", "ENSEMBL:ENSP00000272930.4", "ENSEMBL:ENSP00000478474", "ENSEMBL:ENSP00000478474.1"], "information_content": 100.0}
{"id": "NCBIGene:283767", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOLGA6L1", "equivalent_identifiers": ["NCBIGene:283767", "ENSEMBL:ENSG00000273976", "HGNC:37444", "UMLS:C2829521", "UniProtKB:Q8N7Z2", "PR:Q8N7Z2", "ENSEMBL:ENSP00000478478", "ENSEMBL:ENSP00000478478.1", "ENSEMBL:ENSP00000482864", "ENSEMBL:ENSP00000482864.1", "ENSEMBL:ENSP00000483916", "ENSEMBL:ENSP00000483916.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NP72-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-18 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NP72-2", "PR:Q9NP72-2", "ENSEMBL:ENSP00000478479", "ENSEMBL:ENSP00000478479.1"], "information_content": 100.0}
{"id": "NCBIGene:253943", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "YTHDF3", "equivalent_identifiers": ["NCBIGene:253943", "ENSEMBL:ENSG00000185728", "HGNC:26465", "OMIM:618669", "UMLS:C1538136", "UniProtKB:A0A024R7W5", "ENSEMBL:ENSP00000478825", "ENSEMBL:ENSP00000478825.1", "ENSEMBL:ENSP00000481497", "ENSEMBL:ENSP00000481497.1", "ENSEMBL:ENSP00000485046", "ENSEMBL:ENSP00000485046.1", "UMLS:C4547136", "MESH:C000625021", "UniProtKB:A0A087WY31", "ENSEMBL:ENSP00000478490", "ENSEMBL:ENSP00000478490.1", "ENSEMBL:ENSP00000481476", "ENSEMBL:ENSP00000481476.1", "UniProtKB:B4DPX9", "UniProtKB:Q7Z739", "PR:Q7Z739", "ENSEMBL:ENSP00000473496", "ENSEMBL:ENSP00000473496.2", "UniProtKB:Q8NA80"]}
{"id": "NCBIGene:10393", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANAPC10", "equivalent_identifiers": ["NCBIGene:10393", "ENSEMBL:ENSG00000164162", "HGNC:24077", "OMIM:613745", "UMLS:C1538273", "UniProtKB:D6RD74", "ENSEMBL:ENSP00000425459", "ENSEMBL:ENSP00000425459.1", "UniProtKB:Q9UM13", "PR:Q9UM13", "ENSEMBL:ENSP00000310071", "ENSEMBL:ENSP00000310071.5", "ENSEMBL:ENSP00000403891", "ENSEMBL:ENSP00000403891.2", "ENSEMBL:ENSP00000423995", "ENSEMBL:ENSP00000423995.1", "ENSEMBL:ENSP00000478501", "ENSEMBL:ENSP00000478501.1", "UMLS:C3711756", "MESH:C577455"], "information_content": 92.8}
{"id": "NCBIGene:126208", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF787", "equivalent_identifiers": ["NCBIGene:126208", "ENSEMBL:ENSG00000142409", "HGNC:26998", "UMLS:C1824060", "UniProtKB:K7EKJ5", "ENSEMBL:ENSP00000465647", "ENSEMBL:ENSP00000465647.1", "UniProtKB:Q6DD87", "PR:Q6DD87", "ENSEMBL:ENSP00000478557", "ENSEMBL:ENSP00000478557.1"], "information_content": 95.4}
{"id": "NCBIGene:1545", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP1B1", "equivalent_identifiers": ["NCBIGene:1545", "ENSEMBL:ENSG00000138061", "HGNC:2597", "OMIM:601771", "UMLS:C1413859", "UniProtKB:Q16678", "PR:Q16678", "ENSEMBL:ENSP00000478561", "ENSEMBL:ENSP00000478561.1", "ENSEMBL:ENSP00000478839", "ENSEMBL:ENSP00000478839.2", "ENSEMBL:ENSP00000483678", "ENSEMBL:ENSP00000483678.1", "ENSEMBL:ENSP00000519767", "ENSEMBL:ENSP00000519767.1", "UMLS:C1450093", "MESH:C585496", "UniProtKB:Q53TK1"], "information_content": 84.2}
{"id": "UniProtKB:Q4V326", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GAG2E_HUMAN G antigen 2E (sprot)", "equivalent_identifiers": ["UniProtKB:Q4V326", "PR:Q4V326", "ENSEMBL:ENSP00000478568", "ENSEMBL:ENSP00000478568.1"], "information_content": 100.0}
{"id": "MONDO:0002423", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "rectosigmoid junction neoplasm", "equivalent_identifiers": ["MONDO:0002423", "DOID:2780", "UMLS:C0345873", "NCIT:C4877", "SNOMEDCT:126848003", "medgen:87517"], "information_content": 81.3}
{"id": "UniProtKB:Q96NG3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "outer dynein arm-docking complex subunit 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NG3-1", "PR:Q96NG3-1", "ENSEMBL:ENSP00000478589", "ENSEMBL:ENSP00000478589.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IVL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prolyl 3-hydroxylase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVL6-1", "PR:Q8IVL6-1", "ENSEMBL:ENSP00000478600", "ENSEMBL:ENSP00000478600.1"], "information_content": 100.0}
{"id": "NCBIGene:56127", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCDHB9", "equivalent_identifiers": ["NCBIGene:56127", "ENSEMBL:ENSG00000177839", "HGNC:8694", "OMIM:606335", "UMLS:C1418343", "UniProtKB:Q59H00", "UniProtKB:Q9Y5E1", "PR:Q9Y5E1", "ENSEMBL:ENSP00000478606", "ENSEMBL:ENSP00000478606.1", "ENSEMBL:ENSP00000517195", "ENSEMBL:ENSP00000517195.1"], "information_content": 95.4}
{"id": "NCBIGene:149013", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NBPF12", "equivalent_identifiers": ["NCBIGene:149013", "ENSEMBL:ENSG00000268043", "HGNC:24297", "OMIM:608607", "UMLS:C1825682", "UniProtKB:Q5TAG4", "PR:Q5TAG4", "ENSEMBL:ENSP00000478609", "ENSEMBL:ENSP00000478609.1", "ENSEMBL:ENSP00000513971", "ENSEMBL:ENSP00000513971.1"], "information_content": 100.0}
{"id": "UniProtKB:Q17RD7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptotagmin-16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q17RD7-1", "PR:Q17RD7-1", "ENSEMBL:ENSP00000478637", "ENSEMBL:ENSP00000478637.1", "ENSEMBL:ENSP00000508274", "ENSEMBL:ENSP00000508274.1"], "information_content": 100.0}
{"id": "NCBIGene:6512", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC1A7", "equivalent_identifiers": ["NCBIGene:6512", "ENSEMBL:ENSG00000162383", "HGNC:10945", "OMIM:604471", "UMLS:C1420125", "UniProtKB:A0A087WUF9", "ENSEMBL:ENSP00000478639", "ENSEMBL:ENSP00000478639.1", "UMLS:C1430765", "MESH:C105645", "UniProtKB:F1T0D3", "ENSEMBL:ENSP00000497247", "ENSEMBL:ENSP00000497247.1", "UniProtKB:F1T0D4", "ENSEMBL:ENSP00000484987", "ENSEMBL:ENSP00000484987.1", "UniProtKB:G1CT06", "UniProtKB:O00341", "PR:O00341"]}
{"id": "UniProtKB:Q8NDH6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "islet cell autoantigen 1-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDH6-1", "PR:Q8NDH6-1", "ENSEMBL:ENSP00000351047", "ENSEMBL:ENSP00000351047.2", "ENSEMBL:ENSP00000376070", "ENSEMBL:ENSP00000376070.2", "ENSEMBL:ENSP00000478645", "ENSEMBL:ENSP00000478645.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96NU0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "contactin-associated protein-like 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NU0-1", "PR:Q96NU0-1", "ENSEMBL:ENSP00000478671", "ENSEMBL:ENSP00000478671.2"], "information_content": 100.0}
{"id": "MONDO:0011387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "psoriasis 4", "equivalent_identifiers": ["MONDO:0011387", "DOID:0111280", "OMIM:603935", "UMLS:C1858958", "medgen:347765"], "information_content": 100.0}
{"id": "UniProtKB:P34925-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase RYK isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P34925-2", "PR:P34925-2", "ENSEMBL:ENSP00000478721", "ENSEMBL:ENSP00000478721.1"], "information_content": 100.0}
{"id": "UniProtKB:A0AAG2SVT6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0AAG2SVT6_HUMAN Ig-like domain-containing protein (trembl)", "equivalent_identifiers": ["UniProtKB:A0AAG2SVT6", "ENSEMBL:ENSP00000478725", "ENSEMBL:ENSP00000478725.1"]}
{"id": "ENSEMBL:ENSP00000478752", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000478752", "equivalent_identifiers": ["ENSEMBL:ENSP00000478752"]}
{"id": "NCBIGene:1656", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX6", "equivalent_identifiers": ["NCBIGene:1656", "ENSEMBL:ENSG00000110367", "HGNC:2747", "OMIM:600326", "UMLS:C0812257", "UniProtKB:B2R858", "UniProtKB:P26196", "PR:P26196", "ENSEMBL:ENSP00000433704", "ENSEMBL:ENSP00000433704.1", "ENSEMBL:ENSP00000442266", "ENSEMBL:ENSP00000442266.1", "ENSEMBL:ENSP00000478754", "ENSEMBL:ENSP00000478754.1", "UMLS:C0674363", "MESH:C094683"], "information_content": 89.4}
{"id": "UniProtKB:O76054-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SEC14-like protein 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O76054-1", "PR:O76054-1", "ENSEMBL:ENSP00000478755", "ENSEMBL:ENSP00000478755.1"], "information_content": 100.0}
{"id": "UniProtKB:P78324-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein phosphatase non-receptor type substrate 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P78324-2", "PR:P78324-2", "ENSEMBL:ENSP00000478763", "ENSEMBL:ENSP00000478763.1"], "information_content": 100.0}
{"id": "NCBIGene:84687", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R9B", "equivalent_identifiers": ["NCBIGene:84687", "ENSEMBL:ENSG00000108819", "HGNC:9298", "OMIM:603325", "UMLS:C1418835", "UniProtKB:Q96SB3", "PR:Q96SB3", "ENSEMBL:ENSP00000478767", "ENSEMBL:ENSP00000478767.1"], "information_content": 85.5}
{"id": "NCBIGene:7314", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBB", "equivalent_identifiers": ["NCBIGene:7314", "ENSEMBL:ENSG00000170315", "HGNC:12463", "OMIM:191339", "UMLS:C1421262", "UniProtKB:P0CG47", "PR:P0CG47", "ENSEMBL:ENSP00000304697", "ENSEMBL:ENSP00000304697.3", "ENSEMBL:ENSP00000379178", "ENSEMBL:ENSP00000379178.1", "ENSEMBL:ENSP00000379180", "ENSEMBL:ENSP00000379180.1", "ENSEMBL:ENSP00000478771", "ENSEMBL:ENSP00000478771.1", "UMLS:C1313661", "MESH:C479419", "UniProtKB:Q5U5U6"], "information_content": 92.8}
{"id": "UniProtKB:O94822-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase listerin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O94822-3", "PR:O94822-3", "ENSEMBL:ENSP00000478783", "ENSEMBL:ENSP00000478783.1", "ENSEMBL:ENSP00000517025", "ENSEMBL:ENSP00000517025.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A0G2JMU2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A0G2JMU2_HUMAN POTE ankyrin domain family member B3 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A0G2JMU2", "ENSEMBL:ENSP00000478796", "ENSEMBL:ENSP00000478796.1", "ENSEMBL:ENSP00000479963", "ENSEMBL:ENSP00000479963.1"]}
{"id": "UniProtKB:Q7RTY8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protease serine 7 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTY8-2", "PR:Q7RTY8-2", "ENSEMBL:ENSP00000411645", "ENSEMBL:ENSP00000411645.1", "ENSEMBL:ENSP00000478830", "ENSEMBL:ENSP00000478830.1"], "information_content": 100.0}
{"id": "NCBIGene:1527", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX28", "equivalent_identifiers": ["NCBIGene:1527", "ENSEMBL:ENSG00000278057", "HGNC:2563", "OMIM:300092", "UMLS:C1413831", "UniProtKB:O15482", "PR:O15482", "ENSEMBL:ENSP00000478834", "ENSEMBL:ENSP00000478834.1", "ENSEMBL:ENSP00000479148", "ENSEMBL:ENSP00000479148.1", "ENSEMBL:ENSP00000482010", "ENSEMBL:ENSP00000482010.1", "UMLS:C1308275", "MESH:C108630"], "information_content": 100.0}
{"id": "UniProtKB:Q8IU85-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium/calmodulin-dependent protein kinase type 1D isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IU85-1", "PR:Q8IU85-1", "ENSEMBL:ENSP00000478874", "ENSEMBL:ENSP00000478874.1"], "information_content": 100.0}
{"id": "NCBIGene:11047", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADRM1", "equivalent_identifiers": ["NCBIGene:11047", "ENSEMBL:ENSG00000130706", "HGNC:15759", "OMIM:610650", "UMLS:C1423708", "UniProtKB:A0A087WX59", "ENSEMBL:ENSP00000480756", "ENSEMBL:ENSP00000480756.1", "UMLS:C1569530", "MESH:C500781", "UniProtKB:Q16186", "PR:Q16186", "ENSEMBL:ENSP00000253003", "ENSEMBL:ENSP00000253003.2", "ENSEMBL:ENSP00000478877", "ENSEMBL:ENSP00000478877.1", "UMLS:C5400998"], "information_content": 89.4}
{"id": "UniProtKB:Q96A23-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "copine-4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q96A23-2", "PR:Q96A23-2", "ENSEMBL:ENSP00000421646", "ENSEMBL:ENSP00000421646.1", "ENSEMBL:ENSP00000424853", "ENSEMBL:ENSP00000424853.1", "ENSEMBL:ENSP00000478878", "ENSEMBL:ENSP00000478878.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4C9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C17orf78 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4C9-1", "PR:Q8N4C9-1", "ENSEMBL:ENSP00000478886", "ENSEMBL:ENSP00000478886.1", "ENSEMBL:ENSP00000484072", "ENSEMBL:ENSP00000484072.1"], "information_content": 100.0}
{"id": "UniProtKB:P01106-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "c-myc protein isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P01106-2", "PR:P01106-2", "ENSEMBL:ENSP00000478887", "ENSEMBL:ENSP00000478887.2"], "information_content": 100.0}
{"id": "NCBIGene:2781", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GNAZ", "equivalent_identifiers": ["NCBIGene:2781", "ENSEMBL:ENSG00000128266", "HGNC:4395", "OMIM:139160", "UMLS:C1333686", "UniProtKB:P19086", "PR:P19086", "ENSEMBL:ENSP00000478892", "ENSEMBL:ENSP00000478892.1", "UMLS:C1505153", "MESH:C099387", "UniProtKB:Q8IY73"], "information_content": 90.9}
{"id": "UniProtKB:P46937-9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcriptional coactivator YAP1 isoform h9 (human)", "equivalent_identifiers": ["UniProtKB:P46937-9", "PR:P46937-9", "ENSEMBL:ENSP00000478927", "ENSEMBL:ENSP00000478927.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BRQ8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ferroptosis suppressor protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRQ8-1", "PR:Q9BRQ8-1", "ENSEMBL:ENSP00000312370", "ENSEMBL:ENSP00000312370.1", "ENSEMBL:ENSP00000362345", "ENSEMBL:ENSP00000362345.1", "ENSEMBL:ENSP00000478931", "ENSEMBL:ENSP00000478931.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A096LNH4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A096LNH4_HUMAN Synaptotagmin 15B (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A096LNH4", "ENSEMBL:ENSP00000478933", "ENSEMBL:ENSP00000500231", "ENSEMBL:ENSP00000500231.3"]}
{"id": "UniProtKB:A0A087WUU8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A087WUU8_HUMAN Zinc finger protein 724 (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A087WUU8", "ENSEMBL:ENSP00000478939", "ENSEMBL:ENSP00000478939.2"]}
{"id": "NCBIGene:10557", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPP38", "equivalent_identifiers": ["NCBIGene:10557", "ENSEMBL:ENSG00000152464", "HGNC:30329", "OMIM:606116", "UMLS:C1428963", "UniProtKB:P78345", "PR:P78345", "ENSEMBL:ENSP00000367439", "ENSEMBL:ENSP00000367439.4", "ENSEMBL:ENSP00000367444", "ENSEMBL:ENSP00000367444.5", "ENSEMBL:ENSP00000367445", "ENSEMBL:ENSP00000367445.1", "ENSEMBL:ENSP00000478982", "ENSEMBL:ENSP00000478982.1", "UMLS:C1430680", "MESH:C104645"], "information_content": 92.8}
{"id": "NCBIGene:122876", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPHB5", "equivalent_identifiers": ["NCBIGene:122876", "ENSEMBL:ENSG00000179600", "HGNC:18055", "OMIM:609652", "UMLS:C1539600", "UniProtKB:A0A0F7RPU1", "UMLS:C1721325", "UniProtKB:Q86YW7", "PR:Q86YW7", "ENSEMBL:ENSP00000478993", "ENSEMBL:ENSP00000478993.1", "ENSEMBL:ENSP00000479431", "ENSEMBL:ENSP00000479431.1"], "information_content": 92.8}
{"id": "UniProtKB:Q6FIF0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AN1-type zinc finger protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6FIF0-1", "PR:Q6FIF0-1", "ENSEMBL:ENSP00000261749", "ENSEMBL:ENSP00000261749.6", "ENSEMBL:ENSP00000452735", "ENSEMBL:ENSP00000452735.1", "ENSEMBL:ENSP00000453291", "ENSEMBL:ENSP00000453291.1", "ENSEMBL:ENSP00000453709", "ENSEMBL:ENSP00000453709.1", "ENSEMBL:ENSP00000453888", "ENSEMBL:ENSP00000453888.1", "ENSEMBL:ENSP00000454137", "ENSEMBL:ENSP00000454137.1", "ENSEMBL:ENSP00000478129", "ENSEMBL:ENSP00000478129.1", "ENSEMBL:ENSP00000479071", "ENSEMBL:ENSP00000479071.1", "ENSEMBL:ENSP00000484971", "ENSEMBL:ENSP00000484971.1"], "information_content": 100.0}
{"id": "NCBIGene:126014", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OSCAR", "equivalent_identifiers": ["NCBIGene:126014", "ENSEMBL:ENSG00000170909", "HGNC:29960", "OMIM:606862", "UMLS:C1847321", "UniProtKB:A0A087WV17", "ENSEMBL:ENSP00000352671", "ENSEMBL:ENSP00000352671.4", "ENSEMBL:ENSP00000479089", "ENSEMBL:ENSP00000479089.1", "UMLS:C1121331", "MESH:C512828", "UniProtKB:A0A087X1R2", "ENSEMBL:ENSP00000348927", "ENSEMBL:ENSP00000348927.3", "ENSEMBL:ENSP00000484401", "ENSEMBL:ENSP00000484401.1", "UniProtKB:A0A0A0MR14", "ENSEMBL:ENSP00000304523", "ENSEMBL:ENSP00000304523.5", "UniProtKB:A0A0A0MRF2", "ENSEMBL:ENSP00000351145", "ENSEMBL:ENSP00000351145.4", "UniProtKB:Q8IYS5", "PR:Q8IYS5", "ENSEMBL:ENSP00000365808", "ENSEMBL:ENSP00000365808.2", "ENSEMBL:ENSP00000375641", "ENSEMBL:ENSP00000375641.1", "ENSEMBL:ENSP00000479628", "ENSEMBL:ENSP00000479628.1"]}
{"id": "UniProtKB:Q16627-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-C motif chemokine 14 isoform hHCC-3 (human)", "equivalent_identifiers": ["UniProtKB:Q16627-2", "PR:Q16627-2", "ENSEMBL:ENSP00000479097", "ENSEMBL:ENSP00000479097.1", "ENSEMBL:ENSP00000483302", "ENSEMBL:ENSP00000483302.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99928-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99928-1", "PR:Q99928-1", "ENSEMBL:ENSP00000479113", "ENSEMBL:ENSP00000479113.1"], "information_content": 100.0}
{"id": "NCBIGene:197322", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACSF3", "equivalent_identifiers": ["NCBIGene:197322", "ENSEMBL:ENSG00000176715", "HGNC:27288", "OMIM:614245", "UMLS:C2240360", "UniProtKB:F5H5A1", "ENSEMBL:ENSP00000367596", "ENSEMBL:ENSP00000367596.4", "UMLS:C3253364", "MESH:C561770", "UniProtKB:Q4G176", "PR:Q4G176", "ENSEMBL:ENSP00000320646", "ENSEMBL:ENSP00000320646.4", "ENSEMBL:ENSP00000384627", "ENSEMBL:ENSP00000384627.3", "ENSEMBL:ENSP00000479130", "ENSEMBL:ENSP00000479130.1"], "information_content": 95.4}
{"id": "MONDO:0011803", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 7", "equivalent_identifiers": ["MONDO:0011803", "DOID:0110816", "OMIM:607259", "orphanet:99013", "UMLS:C1846564", "UMLS:C3711370", "MESH:C564599", "MESH:C580457", "NCIT:C181657", "SNOMEDCT:715776003", "medgen:339552"], "information_content": 100.0}
{"id": "UniProtKB:Q68DA7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "formin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68DA7-1", "PR:Q68DA7-1", "ENSEMBL:ENSP00000479134", "ENSEMBL:ENSP00000479134.1"], "information_content": 100.0}
{"id": "NCBIGene:100288966", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LOC100288966", "equivalent_identifiers": ["NCBIGene:100288966", "UniProtKB:A0AAG2SVG9", "ENSEMBL:ENSP00000479139", "ENSEMBL:ENSP00000479139.1"]}
{"id": "NCBIGene:10938", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EHD1", "equivalent_identifiers": ["NCBIGene:10938", "ENSEMBL:ENSG00000110047", "HGNC:3242", "OMIM:605888", "UMLS:C1414318", "UniProtKB:A0A024R571", "ENSEMBL:ENSP00000479153", "ENSEMBL:ENSP00000479153.1", "UMLS:C1438362", "MESH:C120700", "UniProtKB:B2R5U3", "UniProtKB:Q9H4M9", "PR:Q9H4M9", "ENSEMBL:ENSP00000320516", "ENSEMBL:ENSP00000320516.3", "ENSEMBL:ENSP00000352354", "ENSEMBL:ENSP00000352354.2", "UMLS:C4284914"]}
{"id": "NCBIGene:3201", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXA4", "equivalent_identifiers": ["NCBIGene:3201", "ENSEMBL:ENSG00000197576", "HGNC:5105", "OMIM:142953", "UMLS:C1415658", "UniProtKB:Q00056", "PR:Q00056", "ENSEMBL:ENSP00000353151", "ENSEMBL:ENSP00000353151.5", "ENSEMBL:ENSP00000479166", "ENSEMBL:ENSP00000479166.1", "UMLS:C1448673", "MESH:C073547"], "information_content": 100.0}
{"id": "NCBIGene:5554", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRH1", "equivalent_identifiers": ["NCBIGene:5554", "ENSEMBL:ENSG00000231887", "HGNC:9366", "OMIM:168730", "UMLS:C1418892", "UniProtKB:A0A087WV42", "ENSEMBL:ENSP00000479168", "ENSEMBL:ENSP00000479168.1", "ENSEMBL:ENSP00000488797", "ENSEMBL:ENSP00000488797.1", "UMLS:C1312651", "MESH:C524536", "UniProtKB:F1T0A8"]}
{"id": "NCBIGene:8345", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BC9", "equivalent_identifiers": ["NCBIGene:8345", "ENSEMBL:ENSG00000275713", "HGNC:4755", "OMIM:602806", "UMLS:C5202833", "UniProtKB:Q93079", "PR:Q93079", "ENSEMBL:ENSP00000479169", "ENSEMBL:ENSP00000479169.1", "UMLS:C5202782", "UMLS:C5772139", "MESH:C000723808"], "information_content": 82.1}
{"id": "NCBIGene:7993", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBXN8", "equivalent_identifiers": ["NCBIGene:7993", "ENSEMBL:ENSG00000104691", "HGNC:30307", "OMIM:602155", "UMLS:C1823585", "UniProtKB:A0A087WUA4", "ENSEMBL:ENSP00000478502", "ENSEMBL:ENSP00000478502.1", "UniProtKB:A0A087WV67", "ENSEMBL:ENSP00000479216", "ENSEMBL:ENSP00000479216.1", "UniProtKB:B4DKK1", "UniProtKB:O00124", "PR:O00124", "UMLS:C1308002", "MESH:C104829"]}
{"id": "UniProtKB:A6NC86-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:A6NC86-2", "PR:A6NC86-2", "ENSEMBL:ENSP00000479240", "ENSEMBL:ENSP00000479240.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96AA8-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Janus kinase and microtubule-interacting protein 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96AA8-3", "PR:Q96AA8-3", "ENSEMBL:ENSP00000479248", "ENSEMBL:ENSP00000479248.1"], "information_content": 100.0}
{"id": "NCBIGene:9865", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIL", "equivalent_identifiers": ["NCBIGene:9865", "ENSEMBL:ENSG00000255690", "HGNC:22200", "OMIM:613356", "UMLS:C3146763", "UniProtKB:Q7L0X0", "PR:Q7L0X0", "ENSEMBL:ENSP00000479256", "ENSEMBL:ENSP00000479256.1", "UMLS:C3253534", "MESH:C569112"], "information_content": 88.2}
{"id": "UniProtKB:O14795-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein unc-13 homolog B isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O14795-2", "PR:O14795-2", "ENSEMBL:ENSP00000479261", "ENSEMBL:ENSP00000479261.1"], "information_content": 100.0}
{"id": "NCBIGene:79866", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BORA", "equivalent_identifiers": ["NCBIGene:79866", "ENSEMBL:ENSG00000136122", "HGNC:24724", "OMIM:610510", "UMLS:C1824391", "UniProtKB:A0A087WV86", "ENSEMBL:ENSP00000479266", "ENSEMBL:ENSP00000479266.1", "UniProtKB:B5LMG6", "UniProtKB:Q6PGQ7", "PR:Q6PGQ7"]}
{"id": "NCBIGene:128312", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BC26", "equivalent_identifiers": ["NCBIGene:128312", "ENSEMBL:ENSG00000196890", "HGNC:20514", "OMIM:615046", "UMLS:C5202821", "UniProtKB:Q8N257", "PR:Q8N257", "ENSEMBL:ENSP00000479284", "ENSEMBL:ENSP00000479284.1", "ENSEMBL:ENSP00000496342", "ENSEMBL:ENSP00000496342.1", "ENSEMBL:ENSP00000509901", "ENSEMBL:ENSP00000509901.1", "UMLS:C5202867"], "information_content": 81.7}
{"id": "UniProtKB:P30622-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CAP-Gly domain-containing linker protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30622-3", "PR:P30622-3", "ENSEMBL:ENSP00000479322", "ENSEMBL:ENSP00000479322.1"], "information_content": 100.0}
{"id": "NCBIGene:440804", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RIMBP3B", "equivalent_identifiers": ["NCBIGene:440804", "ENSEMBL:ENSG00000274600", "HGNC:33891", "OMIM:612700", "UMLS:C2239889", "UniProtKB:A6NNM3", "PR:A6NNM3", "ENSEMBL:ENSP00000479326", "ENSEMBL:ENSP00000479326.1"], "information_content": 100.0}
{"id": "NCBIGene:94059", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LENG9", "equivalent_identifiers": ["NCBIGene:94059", "ENSEMBL:ENSG00000275183", "HGNC:16306", "UMLS:C1424174", "UniProtKB:A0A087WVD1", "ENSEMBL:ENSP00000478498", "ENSEMBL:ENSP00000478498.1", "ENSEMBL:ENSP00000479355", "ENSEMBL:ENSP00000479355.1", "UniProtKB:Q96B70", "PR:Q96B70", "ENSEMBL:ENSP00000477636", "ENSEMBL:ENSP00000477636.1", "ENSEMBL:ENSP00000483600", "ENSEMBL:ENSP00000483600.1"]}
{"id": "NCBIGene:83606", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GUCD1", "equivalent_identifiers": ["NCBIGene:83606", "ENSEMBL:ENSG00000138867", "HGNC:14237", "OMIM:619171", "UMLS:C1422499", "UniProtKB:A0A087WVD9", "ENSEMBL:ENSP00000479370", "ENSEMBL:ENSP00000479370.1", "UMLS:C3883750", "MESH:C000594563", "UniProtKB:B4DL90", "UniProtKB:E7EX77", "ENSEMBL:ENSP00000387867", "ENSEMBL:ENSP00000387867.2", "UniProtKB:E9PGZ7", "ENSEMBL:ENSP00000384378", "ENSEMBL:ENSP00000384378.1", "UniProtKB:Q7Z629", "UniProtKB:Q96NT3", "PR:Q96NT3"]}
{"id": "UniProtKB:A0A087WVE0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A087WVE0_HUMAN Uncharacterized protein (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A087WVE0", "ENSEMBL:ENSP00000479373", "ENSEMBL:ENSP00000479373.1"]}
{"id": "UniProtKB:P35232-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prohibitin 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P35232-1", "PR:P35232-1", "ENSEMBL:ENSP00000300408", "ENSEMBL:ENSP00000300408.3", "ENSEMBL:ENSP00000393320", "ENSEMBL:ENSP00000393320.3", "ENSEMBL:ENSP00000422182", "ENSEMBL:ENSP00000422182.3", "ENSEMBL:ENSP00000425035", "ENSEMBL:ENSP00000425035.2", "ENSEMBL:ENSP00000426433", "ENSEMBL:ENSP00000426433.3", "ENSEMBL:ENSP00000479488", "ENSEMBL:ENSP00000479488.1", "ENSEMBL:ENSP00000484113", "ENSEMBL:ENSP00000484113.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5JVF3-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PCI domain-containing protein 2 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q5JVF3-4", "PR:Q5JVF3-4", "ENSEMBL:ENSP00000246505", "ENSEMBL:ENSP00000246505.5", "ENSEMBL:ENSP00000479494", "ENSEMBL:ENSP00000479494.1"], "information_content": 100.0}
{"id": "NCBIGene:11056", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DDX52", "equivalent_identifiers": ["NCBIGene:11056", "ENSEMBL:ENSG00000278053", "HGNC:20038", "OMIM:612500", "UMLS:C1426628", "UniProtKB:B3KM65", "UniProtKB:Q9Y2R4", "PR:Q9Y2R4", "ENSEMBL:ENSP00000479504", "ENSEMBL:ENSP00000479504.1", "ENSEMBL:ENSP00000480030", "ENSEMBL:ENSP00000480030.1", "UMLS:C3815137"], "information_content": 90.9}
{"id": "UniProtKB:Q96H55-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-XIX isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96H55-1", "PR:Q96H55-1", "ENSEMBL:ENSP00000479518", "ENSEMBL:ENSP00000479518.1", "ENSEMBL:ENSP00000480242", "ENSEMBL:ENSP00000480242.1"], "information_content": 100.0}
{"id": "NCBIGene:57126", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD177", "equivalent_identifiers": ["NCBIGene:57126", "ENSEMBL:ENSG00000204936", "HGNC:30072", "OMIM:162860", "UMLS:C1824675", "UniProtKB:A0A087WVM2", "ENSEMBL:ENSP00000479536", "ENSEMBL:ENSP00000479536.1", "UniProtKB:Q8N6Q3", "PR:Q8N6Q3", "UMLS:C0913852", "MESH:C407242"]}
{"id": "MONDO:0003289", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "deep leiomyoma", "equivalent_identifiers": ["MONDO:0003289", "DOID:5128", "UMLS:C1333266", "NCIT:C6512", "medgen:234195"], "information_content": 100.0}
{"id": "UniProtKB:Q2M2Z5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosomal protein kizuna isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2M2Z5-1", "PR:Q2M2Z5-1", "ENSEMBL:ENSP00000479542", "ENSEMBL:ENSP00000479542.1"], "information_content": 100.0}
{"id": "MONDO:0002174", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "preretinal fibrosis", "equivalent_identifiers": ["MONDO:0002174", "DOID:2006", "UMLS:C0339543", "MESH:D019773", "MEDDRA:10025417", "MEDDRA:10057892", "MEDDRA:10062977", "MEDDRA:10063738", "MEDDRA:10064697", "MEDDRA:10086638", "NCIT:C175882", "SNOMEDCT:133853005", "SNOMEDCT:367649002", "medgen:87388", "ICD9:362.56", "HP:0100014"], "information_content": 100.0}
{"id": "NCBIGene:474344", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GIMAP6", "equivalent_identifiers": ["NCBIGene:474344", "ENSEMBL:ENSG00000133561", "HGNC:21918", "OMIM:616960", "UMLS:C1539567", "UniProtKB:B4DH95", "ENSEMBL:ENSP00000479580", "ENSEMBL:ENSP00000479580.1", "UniProtKB:Q6P9H5", "PR:Q6P9H5"]}
{"id": "UniProtKB:Q9BSD3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RAD9, HUS1, RAD1-interacting nuclear orphan protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BSD3-1", "PR:Q9BSD3-1", "ENSEMBL:ENSP00000438590", "ENSEMBL:ENSP00000438590.1", "ENSEMBL:ENSP00000479598", "ENSEMBL:ENSP00000479598.1"], "information_content": 100.0}
{"id": "MONDO:0008473", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepimetaphyseal dysplasia, Maroteaux type", "equivalent_identifiers": ["MONDO:0008473", "DOID:0111553", "OMIM:184095", "orphanet:263482", "UMLS:C3159322", "SNOMEDCT:719204007", "medgen:463613"], "information_content": 100.0}
{"id": "UniProtKB:P0DMU7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CT456_HUMAN Cancer/testis antigen family 45 member A6 (sprot)", "equivalent_identifiers": ["UniProtKB:P0DMU7", "PR:P0DMU7", "ENSEMBL:ENSP00000479608", "ENSEMBL:ENSP00000479608.2", "ENSEMBL:ENSP00000483910", "ENSEMBL:ENSP00000483910.1"], "information_content": 100.0}
{"id": "NCBIGene:29128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UHRF1", "equivalent_identifiers": ["NCBIGene:29128", "ENSEMBL:ENSG00000276043", "HGNC:12556", "OMIM:607990", "UMLS:C1421348", "UniProtKB:A0A087WVR3", "ENSEMBL:ENSP00000479617", "ENSEMBL:ENSP00000479617.1", "UniProtKB:Q96T88", "PR:Q96T88", "UMLS:C1438723", "MESH:C406364"]}
{"id": "NCBIGene:113026", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLCD3", "equivalent_identifiers": ["NCBIGene:113026", "ENSEMBL:ENSG00000161714", "HGNC:9061", "OMIM:608795", "UMLS:C1418636", "UniProtKB:Q8N3E9", "PR:Q8N3E9", "ENSEMBL:ENSP00000479636", "ENSEMBL:ENSP00000479636.1", "UMLS:C1870412", "MESH:C518028"], "information_content": 100.0}
{"id": "NCBIGene:313", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AOAH", "equivalent_identifiers": ["NCBIGene:313", "ENSEMBL:ENSG00000136250", "HGNC:548", "OMIM:102593", "UMLS:C1412429", "UniProtKB:A0A087WVT3", "ENSEMBL:ENSP00000479664", "ENSEMBL:ENSP00000479664.1", "UniProtKB:P28039", "PR:P28039"]}
{"id": "UniProtKB:O75582-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal protein S6 kinase alpha-5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75582-1", "PR:O75582-1", "ENSEMBL:ENSP00000479667", "ENSEMBL:ENSP00000479667.1"], "information_content": 100.0}
{"id": "NCBIGene:81617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAB39L", "equivalent_identifiers": ["NCBIGene:81617", "ENSEMBL:ENSG00000102547", "HGNC:20290", "OMIM:612175", "UMLS:C1538428", "UniProtKB:Q86WE6", "UMLS:C2605076", "MESH:C534238", "UniProtKB:Q9H9S4", "PR:Q9H9S4", "ENSEMBL:ENSP00000261669", "ENSEMBL:ENSP00000261669.7", "ENSEMBL:ENSP00000348113", "ENSEMBL:ENSP00000348113.4", "ENSEMBL:ENSP00000386328", "ENSEMBL:ENSP00000386328.1", "ENSEMBL:ENSP00000386375", "ENSEMBL:ENSP00000386375.1", "ENSEMBL:ENSP00000479669", "ENSEMBL:ENSP00000479669.1"], "information_content": 92.8}
{"id": "NCBIGene:375616", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCP", "equivalent_identifiers": ["NCBIGene:375616", "ENSEMBL:ENSG00000135253", "HGNC:17585", "OMIM:609344", "UMLS:C1824791", "UniProtKB:A0A087WVT8", "ENSEMBL:ENSP00000479679", "ENSEMBL:ENSP00000479679.1", "UniProtKB:Q6ZWJ8", "PR:Q6ZWJ8", "UMLS:C5196657", "MESH:C000629805"]}
{"id": "UniProtKB:Q5TI25-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NBPF family member NBPF14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TI25-1", "PR:Q5TI25-1", "ENSEMBL:ENSP00000479693", "ENSEMBL:ENSP00000479693.1"], "information_content": 100.0}
{"id": "NCBIGene:114569", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAL2", "equivalent_identifiers": ["NCBIGene:114569", "ENSEMBL:ENSG00000147676", "HGNC:13634", "OMIM:609684", "UMLS:C1422122", "UniProtKB:Q969L2", "PR:Q969L2", "ENSEMBL:ENSP00000479708", "ENSEMBL:ENSP00000479708.1", "UMLS:C1098667", "MESH:C438606"], "information_content": 100.0}
{"id": "UniProtKB:Q96F07-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoplasmic FMR1-interacting protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96F07-1", "PR:Q96F07-1", "ENSEMBL:ENSP00000479719", "ENSEMBL:ENSP00000479719.1"], "information_content": 100.0}
{"id": "NCBIGene:51195", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAPGEFL1", "equivalent_identifiers": ["NCBIGene:51195", "ENSEMBL:ENSG00000108352", "HGNC:17428", "UMLS:C1424963", "UniProtKB:A0A087WVW6", "ENSEMBL:ENSP00000479735", "ENSEMBL:ENSP00000479735.1", "UniProtKB:B4DGK9", "UniProtKB:F5H2D5", "ENSEMBL:ENSP00000438631", "ENSEMBL:ENSP00000438631.1", "UniProtKB:Q9UHV5", "PR:Q9UHV5", "UMLS:C1334401"]}
{"id": "NCBIGene:646960", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS56", "equivalent_identifiers": ["NCBIGene:646960", "ENSEMBL:ENSG00000237412", "HGNC:39433", "OMIM:613858", "UMLS:C3148643", "UniProtKB:P0CW18", "PR:P0CW18", "ENSEMBL:ENSP00000479745", "ENSEMBL:ENSP00000479745.1", "UMLS:C3181212", "MESH:C558176"], "information_content": 100.0}
{"id": "NCBIGene:338382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB7B", "equivalent_identifiers": ["NCBIGene:338382", "ENSEMBL:ENSG00000276600", "HGNC:30513", "UMLS:C1538763", "UniProtKB:A0A096LP44", "ENSEMBL:ENSP00000485386", "ENSEMBL:ENSP00000485386.1", "UMLS:C5565262", "MESH:C000717674", "UniProtKB:Q96AH8", "PR:Q96AH8", "ENSEMBL:ENSP00000479762", "ENSEMBL:ENSP00000479762.1", "ENSEMBL:ENSP00000482499", "ENSEMBL:ENSP00000482499.1", "ENSEMBL:ENSP00000485468", "ENSEMBL:ENSP00000485468.1"], "information_content": 92.8}
{"id": "NCBIGene:149465", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CFAP57", "equivalent_identifiers": ["NCBIGene:149465", "ENSEMBL:ENSG00000243710", "HGNC:26485", "OMIM:614259", "UMLS:C1823829", "UniProtKB:A0A087WVY5", "ENSEMBL:ENSP00000479773", "ENSEMBL:ENSP00000479773.1", "UMLS:C3254312", "MESH:C561135", "UniProtKB:Q96MR6", "PR:Q96MR6"]}
{"id": "UniProtKB:Q9C0A0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "contactin-associated protein-like 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0A0-1", "PR:Q9C0A0-1", "ENSEMBL:ENSP00000479811", "ENSEMBL:ENSP00000479811.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6P3S1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DENN domain-containing protein 1B isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q6P3S1-1", "PR:Q6P3S1-1", "ENSEMBL:ENSP00000479816", "ENSEMBL:ENSP00000479816.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDF6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RAS guanyl-releasing protein 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDF6-1", "PR:Q8TDF6-1", "ENSEMBL:ENSP00000465742", "ENSEMBL:ENSP00000465742.1", "ENSEMBL:ENSP00000465772", "ENSEMBL:ENSP00000465772.1", "ENSEMBL:ENSP00000479844", "ENSEMBL:ENSP00000479844.1"], "information_content": 100.0}
{"id": "NCBIGene:644974", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALG1L2", "equivalent_identifiers": ["NCBIGene:644974", "ENSEMBL:ENSG00000251287", "HGNC:37258", "UMLS:C2829650", "UniProtKB:C9J202", "PR:C9J202", "ENSEMBL:ENSP00000479850", "ENSEMBL:ENSP00000479850.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99828-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium and integrin-binding protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99828-2", "PR:Q99828-2", "ENSEMBL:ENSP00000479860", "ENSEMBL:ENSP00000479860.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15019-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "septin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15019-2", "PR:Q15019-2", "ENSEMBL:ENSP00000479861", "ENSEMBL:ENSP00000479861.1"], "information_content": 100.0}
{"id": "NCBIGene:241", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALOX5AP", "equivalent_identifiers": ["NCBIGene:241", "ENSEMBL:ENSG00000132965", "HGNC:436", "OMIM:603700", "UMLS:C1412362", "UniProtKB:A0A087WW23", "ENSEMBL:ENSP00000479870", "ENSEMBL:ENSP00000479870.1", "UMLS:C1506122", "MESH:C548592", "UniProtKB:P20292", "PR:P20292", "ENSEMBL:ENSP00000369858", "ENSEMBL:ENSP00000369858.3"]}
{"id": "UniProtKB:Q9NWZ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-1 receptor-associated kinase 4 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NWZ3-1", "PR:Q9NWZ3-1", "ENSEMBL:ENSP00000446490", "ENSEMBL:ENSP00000446490.1", "ENSEMBL:ENSP00000479889", "ENSEMBL:ENSP00000479889.3"], "information_content": 92.8}
{"id": "UniProtKB:Q9UBW7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger MYM-type protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBW7-1", "PR:Q9UBW7-1", "ENSEMBL:ENSP00000372324", "ENSEMBL:ENSP00000372324.2", "ENSEMBL:ENSP00000372327", "ENSEMBL:ENSP00000372327.2", "ENSEMBL:ENSP00000479904", "ENSEMBL:ENSP00000479904.1"], "information_content": 100.0}
{"id": "NCBIGene:4302", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MLLT6", "equivalent_identifiers": ["NCBIGene:4302", "ENSEMBL:ENSG00000275023", "HGNC:7138", "OMIM:600328", "UMLS:C1334517", "UniProtKB:P55198", "PR:P55198", "ENSEMBL:ENSP00000477969", "ENSEMBL:ENSP00000477969.1", "ENSEMBL:ENSP00000479910", "ENSEMBL:ENSP00000479910.1", "UMLS:C1307583", "MESH:C096106"], "information_content": 100.0}
{"id": "NCBIGene:51100", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SH3GLB1", "equivalent_identifiers": ["NCBIGene:51100", "ENSEMBL:ENSG00000097033", "HGNC:10833", "OMIM:609287", "UMLS:C1420028", "UniProtKB:A0A087WW40", "ENSEMBL:ENSP00000479919", "ENSEMBL:ENSP00000479919.1", "UMLS:C1309968", "MESH:C429293", "UniProtKB:A0A140VJU5", "UniProtKB:A0A994J549", "ENSEMBL:ENSP00000516134", "ENSEMBL:ENSP00000516134.1", "UniProtKB:Q9Y371", "PR:Q9Y371"]}
{"id": "NCBIGene:80131", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC8E", "equivalent_identifiers": ["NCBIGene:80131", "ENSEMBL:ENSG00000171017", "HGNC:26272", "OMIM:612891", "UMLS:C1825880", "UniProtKB:Q6NSJ5", "PR:Q6NSJ5", "ENSEMBL:ENSP00000306524", "ENSEMBL:ENSP00000306524.5", "ENSEMBL:ENSP00000479953", "ENSEMBL:ENSP00000479953.1"], "information_content": 100.0}
{"id": "NCBIGene:6362", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL18", "equivalent_identifiers": ["NCBIGene:6362", "ENSEMBL:ENSG00000275385", "HGNC:10616", "OMIM:603757", "UMLS:C1332681", "UniProtKB:P55774", "PR:P55774", "ENSEMBL:ENSP00000479955", "ENSEMBL:ENSP00000479955.1", "ENSEMBL:ENSP00000483144", "ENSEMBL:ENSP00000483144.1", "ENSEMBL:ENSP00000483347", "ENSEMBL:ENSP00000483347.1", "UMLS:C0541270", "MESH:C111792"], "information_content": 87.2}
{"id": "NCBIGene:2052", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPHX1", "equivalent_identifiers": ["NCBIGene:2052", "ENSEMBL:ENSG00000143819", "HGNC:3401", "OMIM:132810", "UMLS:C1134446", "UniProtKB:P07099", "PR:P07099", "ENSEMBL:ENSP00000272167", "ENSEMBL:ENSP00000272167.5", "ENSEMBL:ENSP00000355802", "ENSEMBL:ENSP00000355802.4", "ENSEMBL:ENSP00000480004", "ENSEMBL:ENSP00000480004.1", "UMLS:C2001855", "MESH:C522330", "UniProtKB:R4SBI6"], "information_content": 95.4}
{"id": "NCBIGene:135", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADORA2A", "equivalent_identifiers": ["NCBIGene:135", "ENSEMBL:ENSG00000128271", "HGNC:263", "OMIM:102776", "UMLS:C1412246", "UniProtKB:A8K1F6", "UniProtKB:B3KVQ4", "UniProtKB:P29274", "PR:P29274", "ENSEMBL:ENSP00000336630", "ENSEMBL:ENSP00000336630.6", "ENSEMBL:ENSP00000480012", "ENSEMBL:ENSP00000480012.1", "ENSEMBL:ENSP00000481552", "ENSEMBL:ENSP00000481552.1", "ENSEMBL:ENSP00000483102", "ENSEMBL:ENSP00000483102.1", "UMLS:C1527412", "MESH:C000627179", "UniProtKB:X5DNB4"], "information_content": 95.4}
{"id": "NCBIGene:440560", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF11", "equivalent_identifiers": ["NCBIGene:440560", "ENSEMBL:ENSG00000239810", "HGNC:14086", "UMLS:C1826683", "UniProtKB:O60813", "PR:O60813", "ENSEMBL:ENSP00000480027", "ENSEMBL:ENSP00000480027.2", "ENSEMBL:ENSP00000488512", "ENSEMBL:ENSP00000488512.1"], "information_content": 100.0}
{"id": "NCBIGene:7424", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VEGFC", "equivalent_identifiers": ["NCBIGene:7424", "ENSEMBL:ENSG00000150630", "HGNC:12682", "OMIM:601528", "UMLS:C1336933", "UniProtKB:P49767", "PR:P49767", "ENSEMBL:ENSP00000480043", "ENSEMBL:ENSP00000480043.1", "UMLS:C1171894", "MESH:C467486"], "information_content": 82.6}
{"id": "UniProtKB:Q92777-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synapsin-2 isoform IIa (human)", "equivalent_identifiers": ["UniProtKB:Q92777-1", "PR:Q92777-1", "ENSEMBL:ENSP00000480050", "ENSEMBL:ENSP00000480050.1"], "information_content": 100.0}
{"id": "NCBIGene:338328", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPIHBP1", "equivalent_identifiers": ["NCBIGene:338328", "ENSEMBL:ENSG00000277494", "HGNC:24945", "OMIM:612757", "UMLS:C2239507", "UniProtKB:Q8IV16", "PR:Q8IV16", "ENSEMBL:ENSP00000480053", "ENSEMBL:ENSP00000480053.1", "UMLS:C2000940", "MESH:C523701"], "information_content": 95.4}
{"id": "NCBIGene:342372", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PKD1L3", "equivalent_identifiers": ["NCBIGene:342372", "ENSEMBL:ENSG00000277481", "HGNC:21716", "OMIM:607895", "UMLS:C1427713", "UniProtKB:Q7Z443", "PR:Q7Z443", "ENSEMBL:ENSP00000480090", "ENSEMBL:ENSP00000480090.1", "UMLS:C2934671", "MESH:C550142"], "information_content": 100.0}
{"id": "UniProtKB:Q9NPI5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nicotinamide riboside kinase 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPI5-3", "PR:Q9NPI5-3", "ENSEMBL:ENSP00000472581", "ENSEMBL:ENSP00000472581.1", "ENSEMBL:ENSP00000480091", "ENSEMBL:ENSP00000480091.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZW97", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Q6ZW97_HUMAN Hypothetical LOC389834 (trembl)", "equivalent_identifiers": ["UniProtKB:Q6ZW97", "ENSEMBL:ENSP00000480106", "ENSEMBL:ENSP00000480106.1"]}
{"id": "NCBIGene:343068", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF5", "equivalent_identifiers": ["NCBIGene:343068", "ENSEMBL:ENSG00000270601", "HGNC:27995", "UMLS:C1826677", "UniProtKB:Q5TYX0", "PR:Q5TYX0", "ENSEMBL:ENSP00000478534", "ENSEMBL:ENSP00000478534.2", "ENSEMBL:ENSP00000480122", "ENSEMBL:ENSP00000480122.1", "ENSEMBL:ENSP00000482418", "ENSEMBL:ENSP00000482418.1", "ENSEMBL:ENSP00000488527", "ENSEMBL:ENSP00000488527.1"], "information_content": 100.0}
{"id": "NCBIGene:4684", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NCAM1", "equivalent_identifiers": ["NCBIGene:4684", "ENSEMBL:ENSG00000149294", "HGNC:7656", "OMIM:116930", "UMLS:C1334863", "UniProtKB:A0A087WWD4", "ENSEMBL:ENSP00000480132", "ENSEMBL:ENSP00000480132.1", "UMLS:C1999531", "MESH:C522918", "UniProtKB:H7BYX6", "ENSEMBL:ENSP00000384055", "ENSEMBL:ENSP00000384055.3", "UniProtKB:P13591", "PR:P13591", "UMLS:C4281806"]}
{"id": "UniProtKB:Q9Y4L1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hypoxia up-regulated protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4L1-1", "PR:Q9Y4L1-1", "ENSEMBL:ENSP00000431874", "ENSEMBL:ENSP00000431874.2", "ENSEMBL:ENSP00000462951", "ENSEMBL:ENSP00000462951.2", "ENSEMBL:ENSP00000480150", "ENSEMBL:ENSP00000480150.1", "ENSEMBL:ENSP00000480248", "ENSEMBL:ENSP00000480248.2", "ENSEMBL:ENSP00000486825", "ENSEMBL:ENSP00000486825.1"], "information_content": 100.0}
{"id": "NCBIGene:5425", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLD2", "equivalent_identifiers": ["NCBIGene:5425", "ENSEMBL:ENSG00000106628", "HGNC:9176", "OMIM:600815", "UMLS:C1418728", "UniProtKB:A0A087WWF6", "UMLS:C4042078", "MESH:C000598192", "UniProtKB:P49005", "PR:P49005", "ENSEMBL:ENSP00000386105", "ENSEMBL:ENSP00000386105.2", "ENSEMBL:ENSP00000395231", "ENSEMBL:ENSP00000395231.1", "ENSEMBL:ENSP00000406702", "ENSEMBL:ENSP00000406702.2", "ENSEMBL:ENSP00000480186", "ENSEMBL:ENSP00000480186.2", "ENSEMBL:ENSP00000514051", "ENSEMBL:ENSP00000514051.1", "ENSEMBL:ENSP00000514052", "ENSEMBL:ENSP00000514052.1", "ENSEMBL:ENSP00000514053", "ENSEMBL:ENSP00000514053.1"], "information_content": 87.2}
{"id": "UniProtKB:Q5VT79-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "annexin A8-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VT79-1", "PR:Q5VT79-1", "ENSEMBL:ENSP00000480221", "ENSEMBL:ENSP00000480221.1"], "information_content": 100.0}
{"id": "NCBIGene:83938", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRMDA", "equivalent_identifiers": ["NCBIGene:83938", "ENSEMBL:ENSG00000148655", "HGNC:23405", "OMIM:614537", "UMLS:C1428073", "UniProtKB:A0A087WWI0", "ENSEMBL:ENSP00000480240", "ENSEMBL:ENSP00000480240.1", "UniProtKB:Q9H2I8", "PR:Q9H2I8", "ENSEMBL:ENSP00000361577", "ENSEMBL:ENSP00000361577.1"]}
{"id": "UniProtKB:Q6NYC8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phostensin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NYC8-1", "PR:Q6NYC8-1", "ENSEMBL:ENSP00000274853", "ENSEMBL:ENSP00000274853.3", "ENSEMBL:ENSP00000382150", "ENSEMBL:ENSP00000382150.3", "ENSEMBL:ENSP00000388790", "ENSEMBL:ENSP00000388790.2", "ENSEMBL:ENSP00000400129", "ENSEMBL:ENSP00000400129.2", "ENSEMBL:ENSP00000400990", "ENSEMBL:ENSP00000400990.2", "ENSEMBL:ENSP00000404066", "ENSEMBL:ENSP00000404066.2", "ENSEMBL:ENSP00000405234", "ENSEMBL:ENSP00000405234.2", "ENSEMBL:ENSP00000412456", "ENSEMBL:ENSP00000412456.2", "ENSEMBL:ENSP00000413596", "ENSEMBL:ENSP00000413596.2", "ENSEMBL:ENSP00000416648", "ENSEMBL:ENSP00000416648.2", "ENSEMBL:ENSP00000480270", "ENSEMBL:ENSP00000480270.1"], "information_content": 100.0}
{"id": "NCBIGene:124590", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USH1G", "equivalent_identifiers": ["NCBIGene:124590", "ENSEMBL:ENSG00000182040", "HGNC:16356", "OMIM:607696", "UMLS:C1424214", "UniProtKB:B4DL95", "UMLS:C1311763", "MESH:C477452", "UniProtKB:Q495M9", "PR:Q495M9", "ENSEMBL:ENSP00000480279", "ENSEMBL:ENSP00000480279.1", "UMLS:C3811243"], "information_content": 95.4}
{"id": "UniProtKB:P35680-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hepatocyte nuclear factor 1-beta isoform A (human)", "equivalent_identifiers": ["UniProtKB:P35680-1", "PR:P35680-1", "ENSEMBL:ENSP00000480291", "ENSEMBL:ENSP00000480291.1", "ENSEMBL:ENSP00000484591", "ENSEMBL:ENSP00000484591.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6DN90-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IQ motif and SEC7 domain-containing protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q6DN90-3", "PR:Q6DN90-3", "ENSEMBL:ENSP00000480301", "ENSEMBL:ENSP00000480301.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86XI8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein ZSWIM9 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q86XI8-2", "PR:Q86XI8-2", "ENSEMBL:ENSP00000480314", "ENSEMBL:ENSP00000480314.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96RT8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-tubulin complex component 5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96RT8-1", "PR:Q96RT8-1", "ENSEMBL:ENSP00000480316", "ENSEMBL:ENSP00000480316.1"], "information_content": 100.0}
{"id": "NCBIGene:27095", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRAPPC3", "equivalent_identifiers": ["NCBIGene:27095", "ENSEMBL:ENSG00000054116", "HGNC:19942", "OMIM:610955", "UMLS:C1426550", "UniProtKB:A0A087WWM0", "ENSEMBL:ENSP00000480332", "ENSEMBL:ENSP00000480332.1", "UMLS:C1609803", "MESH:C503571", "UniProtKB:A0A087WYS5", "ENSEMBL:ENSP00000482052", "ENSEMBL:ENSP00000482052.1", "UniProtKB:O43617", "PR:O43617"]}
{"id": "UniProtKB:Q8N4F4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "steroid transmembrane transporter SLC22A24 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4F4-2", "PR:Q8N4F4-2", "ENSEMBL:ENSP00000480336", "ENSEMBL:ENSP00000480336.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96HC4-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PDZ and LIM domain protein 5 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q96HC4-6", "PR:Q96HC4-6", "ENSEMBL:ENSP00000424360", "ENSEMBL:ENSP00000424360.1", "ENSEMBL:ENSP00000480359", "ENSEMBL:ENSP00000480359.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96I51-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RCC1-like G exchanging factor-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96I51-1", "PR:Q96I51-1", "ENSEMBL:ENSP00000480364", "ENSEMBL:ENSP00000480364.1"], "information_content": 100.0}
{"id": "NCBIGene:130916", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTERF4", "equivalent_identifiers": ["NCBIGene:130916", "ENSEMBL:ENSG00000122085", "HGNC:28785", "OMIM:615393", "UMLS:C1826318", "UniProtKB:B4DFP7", "ENSEMBL:ENSP00000384998", "ENSEMBL:ENSP00000384998.1", "UMLS:C3178371", "MESH:C560500", "UniProtKB:Q7Z6M4", "PR:Q7Z6M4", "ENSEMBL:ENSP00000241527", "ENSEMBL:ENSP00000241527.6", "ENSEMBL:ENSP00000375840", "ENSEMBL:ENSP00000375840.2", "ENSEMBL:ENSP00000480378", "ENSEMBL:ENSP00000480378.1"], "information_content": 95.4}
{"id": "NCBIGene:7755", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF205", "equivalent_identifiers": ["NCBIGene:7755", "ENSEMBL:ENSG00000122386", "HGNC:12996", "OMIM:603436", "UMLS:C1421693", "UniProtKB:O95201", "PR:O95201", "ENSEMBL:ENSP00000219091", "ENSEMBL:ENSP00000219091.4", "ENSEMBL:ENSP00000371627", "ENSEMBL:ENSP00000371627.3", "ENSEMBL:ENSP00000480401", "ENSEMBL:ENSP00000480401.1", "UMLS:C1308818", "MESH:C115821"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXP5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serrate RNA effector molecule homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXP5-1", "PR:Q9BXP5-1", "ENSEMBL:ENSP00000480421", "ENSEMBL:ENSP00000480421.1"], "information_content": 100.0}
{"id": "UniProtKB:O60512-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "beta-1,4-galactosyltransferase 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60512-1", "PR:O60512-1", "ENSEMBL:ENSP00000320965", "ENSEMBL:ENSP00000320965.5", "ENSEMBL:ENSP00000356977", "ENSEMBL:ENSP00000356977.1", "ENSEMBL:ENSP00000480428", "ENSEMBL:ENSP00000480428.1"], "information_content": 100.0}
{"id": "UniProtKB:O75911-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "short-chain dehydrogenase/reductase 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O75911-1", "PR:O75911-1", "ENSEMBL:ENSP00000480439", "ENSEMBL:ENSP00000480439.1"], "information_content": 100.0}
{"id": "NCBIGene:374875", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSD11B1L", "equivalent_identifiers": ["NCBIGene:374875", "ENSEMBL:ENSG00000167733", "HGNC:30419", "UMLS:C1825527", "UniProtKB:A0A087WWR3", "ENSEMBL:ENSP00000480443", "ENSEMBL:ENSP00000480443.1", "UniProtKB:Q7Z5J1", "PR:Q7Z5J1"]}
{"id": "UniProtKB:Q96H12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Myb/SANT-like DNA-binding domain-containing protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96H12-1", "PR:Q96H12-1", "ENSEMBL:ENSP00000378506", "ENSEMBL:ENSP00000378506.2", "ENSEMBL:ENSP00000480445", "ENSEMBL:ENSP00000480445.1", "ENSEMBL:ENSP00000480622", "ENSEMBL:ENSP00000480622.1"], "information_content": 100.0}
{"id": "NCBIGene:3447", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFNA13", "equivalent_identifiers": ["NCBIGene:3447", "ENSEMBL:ENSG00000233816", "HGNC:5419", "OMIM:147578", "UMLS:C1334079", "UniProtKB:A0A087WWS6", "ENSEMBL:ENSP00000480467", "ENSEMBL:ENSP00000480467.1"]}
{"id": "NCBIGene:1310", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL19A1", "equivalent_identifiers": ["NCBIGene:1310", "ENSEMBL:ENSG00000082293", "HGNC:2196", "OMIM:120165", "UMLS:C1413578", "UniProtKB:Q14993", "PR:Q14993", "ENSEMBL:ENSP00000480474", "ENSEMBL:ENSP00000480474.1", "UMLS:C2604989", "MESH:C534489"], "information_content": 85.5}
{"id": "NCBIGene:26873", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OPLAH", "equivalent_identifiers": ["NCBIGene:26873", "ENSEMBL:ENSG00000178814", "HGNC:8149", "OMIM:614243", "UMLS:C1417961", "UniProtKB:O14841", "PR:O14841", "ENSEMBL:ENSP00000480476", "ENSEMBL:ENSP00000480476.1"], "information_content": 87.2}
{"id": "NCBIGene:51299", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NRN1", "equivalent_identifiers": ["NCBIGene:51299", "ENSEMBL:ENSG00000124785", "HGNC:17972", "OMIM:607409", "UMLS:C1425210", "UniProtKB:A0A087WWT2", "ENSEMBL:ENSP00000480483", "ENSEMBL:ENSP00000480483.1", "UMLS:C1433962", "MESH:C484539", "UniProtKB:Q9NPD7", "PR:Q9NPD7", "ENSEMBL:ENSP00000244766", "ENSEMBL:ENSP00000244766.2", "ENSEMBL:ENSP00000484055", "ENSEMBL:ENSP00000484055.1"]}
{"id": "NCBIGene:7062", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCHH", "equivalent_identifiers": ["NCBIGene:7062", "ENSEMBL:ENSG00000159450", "HGNC:11791", "OMIM:190370", "UMLS:C1420724", "UniProtKB:Q07283", "PR:Q07283", "ENSEMBL:ENSP00000480484", "ENSEMBL:ENSP00000480484.1", "UMLS:C1313662", "MESH:C479420"], "information_content": 95.4}
{"id": "UniProtKB:Q9H5P4-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PDZ domain-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H5P4-3", "PR:Q9H5P4-3", "ENSEMBL:ENSP00000480489", "ENSEMBL:ENSP00000480489.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UM00-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium load-activated calcium channel isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UM00-3", "PR:Q9UM00-3", "ENSEMBL:ENSP00000480514", "ENSEMBL:ENSP00000480514.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6EKJ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "general transcription factor II-I repeat domain-containing protein 2B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6EKJ0-1", "PR:Q6EKJ0-1", "ENSEMBL:ENSP00000480524", "ENSEMBL:ENSP00000480524.1"], "information_content": 100.0}
{"id": "NCBIGene:27019", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DNAI1", "equivalent_identifiers": ["NCBIGene:27019", "ENSEMBL:ENSG00000122735", "HGNC:2954", "OMIM:604366", "UMLS:C1414105", "UniProtKB:A0A087WWV9", "ENSEMBL:ENSP00000480538", "ENSEMBL:ENSP00000480538.1", "UniProtKB:A0A140VJI0", "UniProtKB:Q9UI46", "PR:Q9UI46", "UMLS:C1447957", "MESH:C425071"]}
{"id": "NCBIGene:10602", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDC42EP3", "equivalent_identifiers": ["NCBIGene:10602", "ENSEMBL:ENSG00000163171", "HGNC:16943", "OMIM:606133", "UMLS:C1424654", "UniProtKB:Q9UKI2", "PR:Q9UKI2", "ENSEMBL:ENSP00000295324", "ENSEMBL:ENSP00000295324.3", "ENSEMBL:ENSP00000480549", "ENSEMBL:ENSP00000480549.1", "UMLS:C1438702", "MESH:C484093"], "information_content": 92.8}
{"id": "UniProtKB:Q3SXZ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 718 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3SXZ3-1", "PR:Q3SXZ3-1", "ENSEMBL:ENSP00000480556", "ENSEMBL:ENSP00000480556.1"], "information_content": 100.0}
{"id": "UniProtKB:P16619", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CL3L1_HUMAN C-C motif chemokine 3-like 1 (sprot)", "equivalent_identifiers": ["UniProtKB:P16619", "PR:P16619", "ENSEMBL:ENSP00000480051", "ENSEMBL:ENSP00000480051.1", "ENSEMBL:ENSP00000480558", "ENSEMBL:ENSP00000480558.1", "ENSEMBL:ENSP00000482487", "ENSEMBL:ENSP00000482487.1", "ENSEMBL:ENSP00000484704", "ENSEMBL:ENSP00000484704.1", "UMLS:C1521994", "MESH:C492767"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000480571", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000480571", "equivalent_identifiers": ["ENSEMBL:ENSP00000480571"]}
{"id": "NCBIGene:151", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADRA2B", "equivalent_identifiers": ["NCBIGene:151", "ENSEMBL:ENSG00000274286", "HGNC:282", "OMIM:104260", "UMLS:C1332029", "UniProtKB:P18089", "PR:P18089", "ENSEMBL:ENSP00000480573", "ENSEMBL:ENSP00000480573.1"], "information_content": 100.0}
{"id": "NCBIGene:390082", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52E5", "equivalent_identifiers": ["NCBIGene:390082", "ENSEMBL:ENSG00000277932", "HGNC:15214", "UMLS:C1423305", "UniProtKB:Q8NH55", "PR:Q8NH55", "ENSEMBL:ENSP00000480583", "ENSEMBL:ENSP00000480583.1"], "information_content": 100.0}
{"id": "MONDO:0850127", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epithelioid inflammatory myofibroblastic sarcoma", "equivalent_identifiers": ["MONDO:0850127", "DOID:0080372", "UMLS:C5880506", "SNOMEDCT:1290858009", "SNOMEDCT:1290859001", "medgen:1843877"], "information_content": 100.0}
{"id": "NCBIGene:195977", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ANTXRL", "equivalent_identifiers": ["NCBIGene:195977", "ENSEMBL:ENSG00000274209", "HGNC:27277", "UMLS:C1823699", "UniProtKB:A0A2U7XUX1", "UniProtKB:A6NF34", "PR:A6NF34", "ENSEMBL:ENSP00000480615", "ENSEMBL:ENSP00000480615.1"], "information_content": 100.0}
{"id": "NCBIGene:4105", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEA6", "equivalent_identifiers": ["NCBIGene:4105", "ENSEMBL:ENSG00000197172", "HGNC:6804", "OMIM:300176", "UMLS:C1416977", "UniProtKB:P43360", "PR:P43360", "ENSEMBL:ENSP00000329199", "ENSEMBL:ENSP00000329199.5", "ENSEMBL:ENSP00000480637", "ENSEMBL:ENSP00000480637.1", "ENSEMBL:ENSP00000517987", "ENSEMBL:ENSP00000517987.1", "ENSEMBL:ENSP00000517988", "ENSEMBL:ENSP00000517988.1", "UMLS:C1438062", "UMLS:C3538967", "MESH:C095203"], "information_content": 100.0}
{"id": "NCBIGene:7869", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEMA3B", "equivalent_identifiers": ["NCBIGene:7869", "ENSEMBL:ENSG00000012171", "HGNC:10724", "OMIM:601281", "UMLS:C1419943", "UniProtKB:A0A0C4DGV8", "ENSEMBL:ENSP00000480680", "ENSEMBL:ENSP00000480680.1", "UniProtKB:B4DEK9", "ENSEMBL:ENSP00000485173", "ENSEMBL:ENSP00000485173.1", "ENSEMBL:ENSP00000485646", "ENSEMBL:ENSP00000485646.1", "UniProtKB:Q13214", "PR:Q13214", "UniProtKB:Q6PI51"]}
{"id": "UniProtKB:Q96NT5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proton-coupled folate transporter isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96NT5-1", "PR:Q96NT5-1", "ENSEMBL:ENSP00000480703", "ENSEMBL:ENSP00000480703.1"], "information_content": 100.0}
{"id": "NCBIGene:51226", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COPZ2", "equivalent_identifiers": ["NCBIGene:51226", "ENSEMBL:ENSG00000005243", "HGNC:19356", "OMIM:615526", "UMLS:C1426188", "UniProtKB:Q9P299", "PR:Q9P299", "ENSEMBL:ENSP00000480707", "ENSEMBL:ENSP00000480707.1"], "information_content": 100.0}
{"id": "NCBIGene:23288", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IQCE", "equivalent_identifiers": ["NCBIGene:23288", "ENSEMBL:ENSG00000106012", "HGNC:29171", "OMIM:617631", "UMLS:C1537413", "UniProtKB:A0A087WX19", "ENSEMBL:ENSP00000480668", "ENSEMBL:ENSP00000480668.1", "UMLS:C4547161", "MESH:C000625398", "UniProtKB:A0A087WX45", "ENSEMBL:ENSP00000480715", "ENSEMBL:ENSP00000480715.1", "UniProtKB:B3KRY4", "UniProtKB:B4DDX4", "UniProtKB:B4DXN1", "UniProtKB:Q6IPM2", "PR:Q6IPM2"]}
{"id": "UniProtKB:Q6ZVK8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "8-oxo-dGDP phosphatase NUDT18 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZVK8-1", "PR:Q6ZVK8-1", "ENSEMBL:ENSP00000480722", "ENSEMBL:ENSP00000480722.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y493-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zonadhesin isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y493-1", "PR:Q9Y493-1", "ENSEMBL:ENSP00000478371", "ENSEMBL:ENSP00000478371.1", "ENSEMBL:ENSP00000480750", "ENSEMBL:ENSP00000480750.1"], "information_content": 100.0}
{"id": "MONDO:0002509", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-specific granulomatous orchitis", "equivalent_identifiers": ["MONDO:0002509", "DOID:3089", "UMLS:C0436545", "NCIT:C27162", "SNOMEDCT:50390006", "medgen:98504"], "information_content": 100.0}
{"id": "NCBIGene:2044", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPHA5", "equivalent_identifiers": ["NCBIGene:2044", "ENSEMBL:ENSG00000145242", "HGNC:3389", "OMIM:600004", "UMLS:C1414429", "UniProtKB:A0A384MU00", "UniProtKB:B7ZKJ3", "ENSEMBL:ENSP00000480763", "ENSEMBL:ENSP00000480763.1", "UniProtKB:B7ZKW7", "ENSEMBL:ENSP00000478537", "ENSEMBL:ENSP00000478537.1", "UniProtKB:F8VP57", "ENSEMBL:ENSP00000427638", "ENSEMBL:ENSP00000427638.1", "UniProtKB:F8W9W0", "ENSEMBL:ENSP00000389208", "ENSEMBL:ENSP00000389208.2", "UniProtKB:P54756", "PR:P54756", "UMLS:C1435808", "MESH:C484173", "UniProtKB:Q59FT4"]}
{"id": "UniProtKB:P05230-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibroblast growth factor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P05230-1", "PR:P05230-1", "ENSEMBL:ENSP00000338548", "ENSEMBL:ENSP00000338548.2", "ENSEMBL:ENSP00000352329", "ENSEMBL:ENSP00000352329.6", "ENSEMBL:ENSP00000367285", "ENSEMBL:ENSP00000367285.1", "ENSEMBL:ENSP00000396195", "ENSEMBL:ENSP00000396195.2", "ENSEMBL:ENSP00000404742", "ENSEMBL:ENSP00000404742.2", "ENSEMBL:ENSP00000479024", "ENSEMBL:ENSP00000479024.1", "ENSEMBL:ENSP00000480791", "ENSEMBL:ENSP00000480791.1", "ENSEMBL:ENSP00000480980", "ENSEMBL:ENSP00000480980.1", "ENSEMBL:ENSP00000481868", "ENSEMBL:ENSP00000481868.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86X29-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lipolysis-stimulated lipoprotein receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86X29-1", "PR:Q86X29-1", "ENSEMBL:ENSP00000480821", "ENSEMBL:ENSP00000480821.1"], "information_content": 100.0}
{"id": "MONDO:0000705", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Clostridium difficile colitis", "equivalent_identifiers": ["MONDO:0000705", "DOID:0060185", "EFO:1001314", "UMLS:C0014358", "UMLS:C0085819", "UMLS:C0238106", "UMLS:C1257843", "UMLS:C1257844", "UMLS:C1257845", "MESH:D004761", "MEDDRA:10006833", "MEDDRA:10009657", "MEDDRA:10009899", "MEDDRA:10014879", "MEDDRA:10014900", "MEDDRA:10037128", "MEDDRA:10037130", "MEDDRA:10052815", "MEDDRA:10085157", "MEDDRA:10087449", "NCIT:C128347", "NCIT:C35286", "SNOMEDCT:397696004", "SNOMEDCT:423590009", "medgen:65946", "ICD10:A04.7", "HP:0032168"], "information_content": 100.0}
{"id": "UniProtKB:Q9C010-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cAMP-dependent protein kinase inhibitor beta isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9C010-2", "PR:Q9C010-2", "ENSEMBL:ENSP00000258014", "ENSEMBL:ENSP00000258014.3", "ENSEMBL:ENSP00000480824", "ENSEMBL:ENSP00000480824.1"], "information_content": 100.0}
{"id": "NCBIGene:23786", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCL2L13", "equivalent_identifiers": ["NCBIGene:23786", "ENSEMBL:ENSG00000099968", "HGNC:17164", "OMIM:619822", "UMLS:C1424788", "UniProtKB:A0A087WTL4", "ENSEMBL:ENSP00000477967", "ENSEMBL:ENSP00000477967.1", "UMLS:C1310031", "MESH:C431152", "UniProtKB:A0A087WW80", "ENSEMBL:ENSP00000480014", "ENSEMBL:ENSP00000480014.1", "UniProtKB:A0A087WX97", "ENSEMBL:ENSP00000480836", "ENSEMBL:ENSP00000480836.1", "UniProtKB:A0A0A0MR90", "ENSEMBL:ENSP00000338932", "ENSEMBL:ENSP00000338932.6", "UniProtKB:A8K5Y4", "UniProtKB:B2RB43", "UniProtKB:B7Z238", "UniProtKB:B7Z737", "UniProtKB:E9PDD6", "ENSEMBL:ENSP00000347133", "ENSEMBL:ENSP00000347133.3", "UniProtKB:F2Z2C3", "ENSEMBL:ENSP00000436321", "ENSEMBL:ENSP00000436321.1", "UniProtKB:F6VJB4", "ENSEMBL:ENSP00000441344", "ENSEMBL:ENSP00000441344.2", "UniProtKB:Q9BXK5", "PR:Q9BXK5"]}
{"id": "NCBIGene:51699", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VPS29", "equivalent_identifiers": ["NCBIGene:51699", "ENSEMBL:ENSG00000111237", "HGNC:14340", "OMIM:606932", "UMLS:C1422577", "UniProtKB:A0A384MR19", "UMLS:C0963893", "MESH:C419572", "UniProtKB:F8VXU5", "ENSEMBL:ENSP00000449044", "ENSEMBL:ENSP00000449044.1", "ENSEMBL:ENSP00000480853", "ENSEMBL:ENSP00000480853.1", "UniProtKB:Q9UBQ0", "PR:Q9UBQ0"]}
{"id": "UniProtKB:Q9Y274-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "type 2 lactosamine alpha-2,3-sialyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y274-1", "PR:Q9Y274-1", "ENSEMBL:ENSP00000265261", "ENSEMBL:ENSP00000265261.7", "ENSEMBL:ENSP00000377717", "ENSEMBL:ENSP00000377717.1", "ENSEMBL:ENSP00000417376", "ENSEMBL:ENSP00000417376.1", "ENSEMBL:ENSP00000480884", "ENSEMBL:ENSP00000480884.2"], "information_content": 100.0}
{"id": "NCBIGene:84679", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC9A7", "equivalent_identifiers": ["NCBIGene:84679", "ENSEMBL:ENSG00000065923", "HGNC:17123", "OMIM:300368", "UMLS:C1424759", "UniProtKB:A0A087WXD1", "ENSEMBL:ENSP00000480916", "ENSEMBL:ENSP00000480916.1", "UMLS:C1309972", "MESH:C429538", "UniProtKB:Q96T83", "PR:Q96T83", "ENSEMBL:ENSP00000330320", "ENSEMBL:ENSP00000330320.4"]}
{"id": "NCBIGene:497661", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C18orf32", "equivalent_identifiers": ["NCBIGene:497661", "ENSEMBL:ENSG00000177576", "HGNC:31690", "OMIM:619979", "UMLS:C2240321", "UniProtKB:Q8TCD1", "PR:Q8TCD1", "ENSEMBL:ENSP00000323199", "ENSEMBL:ENSP00000323199.3", "ENSEMBL:ENSP00000462538", "ENSEMBL:ENSP00000462538.1", "ENSEMBL:ENSP00000480941", "ENSEMBL:ENSP00000480941.1"], "information_content": 100.0}
{"id": "NCBIGene:5031", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "P2RY6", "equivalent_identifiers": ["NCBIGene:5031", "ENSEMBL:ENSG00000171631", "HGNC:8543", "OMIM:602451", "UMLS:C1418221", "UniProtKB:Q15077", "PR:Q15077", "ENSEMBL:ENSP00000309771", "ENSEMBL:ENSP00000309771.2", "ENSEMBL:ENSP00000377215", "ENSEMBL:ENSP00000377215.2", "ENSEMBL:ENSP00000377216", "ENSEMBL:ENSP00000377216.1", "ENSEMBL:ENSP00000377217", "ENSEMBL:ENSP00000377217.2", "ENSEMBL:ENSP00000440770", "ENSEMBL:ENSP00000440770.2", "ENSEMBL:ENSP00000441079", "ENSEMBL:ENSP00000441079.2", "ENSEMBL:ENSP00000442551", "ENSEMBL:ENSP00000442551.1", "ENSEMBL:ENSP00000442990", "ENSEMBL:ENSP00000442990.1", "ENSEMBL:ENSP00000443427", "ENSEMBL:ENSP00000443427.1", "ENSEMBL:ENSP00000445652", "ENSEMBL:ENSP00000445652.1", "ENSEMBL:ENSP00000480966", "ENSEMBL:ENSP00000480966.1", "ENSEMBL:ENSP00000504879", "ENSEMBL:ENSP00000504879.1", "ENSEMBL:ENSP00000505646", "ENSEMBL:ENSP00000505646.1", "UMLS:C2745740"], "information_content": 92.8}
{"id": "NCBIGene:6753", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSTR3", "equivalent_identifiers": ["NCBIGene:6753", "ENSEMBL:ENSG00000278195", "HGNC:11332", "OMIM:182453", "UMLS:C1335868", "UniProtKB:P32745", "PR:P32745", "ENSEMBL:ENSP00000480971", "ENSEMBL:ENSP00000480971.1", "ENSEMBL:ENSP00000481325", "ENSEMBL:ENSP00000481325.1", "UMLS:C5441778"], "information_content": 100.0}
{"id": "UniProtKB:P25205-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA replication licensing factor MCM3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P25205-2", "PR:P25205-2", "ENSEMBL:ENSP00000480987", "ENSEMBL:ENSP00000480987.1"], "information_content": 100.0}
{"id": "NCBIGene:128408", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BHLHE23", "equivalent_identifiers": ["NCBIGene:128408", "ENSEMBL:ENSG00000125533", "HGNC:16093", "OMIM:609331", "UMLS:C1423974", "UniProtKB:A0A087WXG3", "ENSEMBL:ENSP00000480998", "ENSEMBL:ENSP00000480998.1", "UniProtKB:Q8NDY6", "PR:Q8NDY6", "ENSEMBL:ENSP00000359371", "ENSEMBL:ENSP00000359371.2"]}
{"id": "UniProtKB:P60201-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myelin proteolipid protein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P60201-1", "PR:P60201-1", "ENSEMBL:ENSP00000481006", "ENSEMBL:ENSP00000481006.1", "ENSEMBL:ENSP00000484450", "ENSEMBL:ENSP00000484450.1"], "information_content": 100.0}
{"id": "UniProtKB:B7ZVW6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B7ZVW6_HUMAN FLJ42280 protein (trembl)", "equivalent_identifiers": ["UniProtKB:B7ZVW6", "ENSEMBL:ENSP00000481021", "ENSEMBL:ENSP00000481021.1"]}
{"id": "UniProtKB:O15126-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "secretory carrier-associated membrane protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15126-1", "PR:O15126-1", "ENSEMBL:ENSP00000481022", "ENSEMBL:ENSP00000481022.1"], "information_content": 100.0}
{"id": "NCBIGene:5702", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMC3", "equivalent_identifiers": ["NCBIGene:5702", "ENSEMBL:ENSG00000165916", "HGNC:9549", "OMIM:186852", "UMLS:C1419022", "UniProtKB:A0A140VK42", "UniProtKB:P17980", "PR:P17980", "ENSEMBL:ENSP00000298852", "ENSEMBL:ENSP00000298852.3", "ENSEMBL:ENSP00000481029", "ENSEMBL:ENSP00000481029.1", "UMLS:C0084718", "MESH:C064757"], "information_content": 92.8}
{"id": "UniProtKB:Q7L576-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoplasmic FMR1-interacting protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L576-1", "PR:Q7L576-1", "ENSEMBL:ENSP00000478779", "ENSEMBL:ENSP00000478779.1", "ENSEMBL:ENSP00000481038", "ENSEMBL:ENSP00000481038.1", "ENSEMBL:ENSP00000499947", "ENSEMBL:ENSP00000499947.1", "ENSEMBL:ENSP00000500331", "ENSEMBL:ENSP00000500331.1"], "information_content": 100.0}
{"id": "NCBIGene:401258", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RAB44", "equivalent_identifiers": ["NCBIGene:401258", "ENSEMBL:ENSG00000255587", "HGNC:21068", "UMLS:C1538771", "UniProtKB:Q7Z6P3", "PR:Q7Z6P3", "ENSEMBL:ENSP00000481054", "ENSEMBL:ENSP00000481054.1", "UMLS:C5202997"], "information_content": 100.0}
{"id": "UniProtKB:A0A087WXI2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A087WXI2_HUMAN Fc gamma binding protein (trembl)", "equivalent_identifiers": ["UniProtKB:A0A087WXI2", "ENSEMBL:ENSP00000481056", "ENSEMBL:ENSP00000481056.3"]}
{"id": "NCBIGene:6871", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TADA2A", "equivalent_identifiers": ["NCBIGene:6871", "ENSEMBL:ENSG00000276234", "HGNC:11531", "OMIM:602276", "UMLS:C1420568", "UniProtKB:A0A024R0Y4", "ENSEMBL:ENSP00000477709", "ENSEMBL:ENSP00000477709.1", "ENSEMBL:ENSP00000478363", "ENSEMBL:ENSP00000478363.1", "ENSEMBL:ENSP00000481091", "ENSEMBL:ENSP00000481091.1", "UniProtKB:A0A087WWR4", "ENSEMBL:ENSP00000480446", "ENSEMBL:ENSP00000480446.1", "UniProtKB:A0A0S2Z4G1", "UniProtKB:B3KU13", "UniProtKB:O75478", "PR:O75478", "UMLS:C0385910", "MESH:C097695"]}
{"id": "UniProtKB:Q9UBM8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UBM8-1", "PR:Q9UBM8-1", "ENSEMBL:ENSP00000446647", "ENSEMBL:ENSP00000446647.1", "ENSEMBL:ENSP00000447253", "ENSEMBL:ENSP00000447253.1", "ENSEMBL:ENSP00000477650", "ENSEMBL:ENSP00000477650.1", "ENSEMBL:ENSP00000478300", "ENSEMBL:ENSP00000478300.1", "ENSEMBL:ENSP00000481096", "ENSEMBL:ENSP00000481096.1"], "information_content": 100.0}
{"id": "NCBIGene:157285", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAG1", "equivalent_identifiers": ["NCBIGene:157285", "ENSEMBL:ENSG00000275342", "HGNC:25438", "OMIM:617344", "UMLS:C4320711", "UniProtKB:Q86YV5", "PR:Q86YV5", "ENSEMBL:ENSP00000481109", "ENSEMBL:ENSP00000481109.1", "UMLS:C4276994", "MESH:C000607534"], "information_content": 100.0}
{"id": "UniProtKB:P41439-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "folate receptor gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P41439-1", "PR:P41439-1", "ENSEMBL:ENSP00000481114", "ENSEMBL:ENSP00000481114.1"], "information_content": 100.0}
{"id": "NCBIGene:55823", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "VPS11", "equivalent_identifiers": ["NCBIGene:55823", "ENSEMBL:ENSG00000160695", "HGNC:14583", "OMIM:608549", "UMLS:C1422772", "UniProtKB:A0A087WXL6", "ENSEMBL:ENSP00000481126", "ENSEMBL:ENSP00000481126.1", "ENSEMBL:ENSP00000485929", "ENSEMBL:ENSP00000485929.1", "UMLS:C0965632", "MESH:C424438", "UniProtKB:B7Z879", "ENSEMBL:ENSP00000481807", "ENSEMBL:ENSP00000481807.1", "ENSEMBL:ENSP00000486795", "ENSEMBL:ENSP00000486795.1", "UniProtKB:Q9H270", "PR:Q9H270"]}
{"id": "UniProtKB:A0AAG2SXN7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0AAG2SXN7_HUMAN Proline dehydrogenase (trembl)", "equivalent_identifiers": ["UniProtKB:A0AAG2SXN7", "ENSEMBL:ENSP00000481127", "ENSEMBL:ENSP00000481127.1"]}
{"id": "UniProtKB:A0AAG2SXZ4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0AAG2SXZ4_HUMAN Ig-like domain-containing protein (trembl)", "equivalent_identifiers": ["UniProtKB:A0AAG2SXZ4", "ENSEMBL:ENSP00000481152", "ENSEMBL:ENSP00000481152.1"]}
{"id": "UniProtKB:P0DMV1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CT458_HUMAN Cancer/testis antigen family 45 member A8 (sprot)", "equivalent_identifiers": ["UniProtKB:P0DMV1", "PR:P0DMV1", "ENSEMBL:ENSP00000480644", "ENSEMBL:ENSP00000480644.1", "ENSEMBL:ENSP00000481184", "ENSEMBL:ENSP00000481184.1"], "information_content": 100.0}
{"id": "NCBIGene:402635", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRIFIN", "equivalent_identifiers": ["NCBIGene:402635", "ENSEMBL:ENSG00000275572", "HGNC:4577", "OMIM:619187", "UMLS:C1415292", "UniProtKB:A4D1Z8", "PR:A4D1Z8", "ENSEMBL:ENSP00000481185", "ENSEMBL:ENSP00000481185.1"], "information_content": 100.0}
{"id": "NCBIGene:5348", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FXYD1", "equivalent_identifiers": ["NCBIGene:5348", "ENSEMBL:ENSG00000266964", "HGNC:4025", "OMIM:602359", "UMLS:C1414874", "UniProtKB:O00168", "PR:O00168", "ENSEMBL:ENSP00000343314", "ENSEMBL:ENSP00000343314.3", "ENSEMBL:ENSP00000393611", "ENSEMBL:ENSP00000393611.1", "ENSEMBL:ENSP00000465289", "ENSEMBL:ENSP00000465289.1", "ENSEMBL:ENSP00000466398", "ENSEMBL:ENSP00000466398.1", "ENSEMBL:ENSP00000467727", "ENSEMBL:ENSP00000467727.1", "ENSEMBL:ENSP00000468535", "ENSEMBL:ENSP00000468535.1", "ENSEMBL:ENSP00000481244", "ENSEMBL:ENSP00000481244.1", "UMLS:C1741615"], "information_content": 92.8}
{"id": "NCBIGene:8835", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOCS2", "equivalent_identifiers": ["NCBIGene:8835", "ENSEMBL:ENSG00000120833", "HGNC:19382", "OMIM:605117", "UMLS:C1426207", "UniProtKB:O14508", "PR:O14508", "ENSEMBL:ENSP00000339428", "ENSEMBL:ENSP00000339428.2", "ENSEMBL:ENSP00000442898", "ENSEMBL:ENSP00000442898.2", "ENSEMBL:ENSP00000447161", "ENSEMBL:ENSP00000447161.1", "ENSEMBL:ENSP00000448815", "ENSEMBL:ENSP00000448815.1", "ENSEMBL:ENSP00000449227", "ENSEMBL:ENSP00000449227.1", "ENSEMBL:ENSP00000481249", "ENSEMBL:ENSP00000481249.1", "UMLS:C0540340", "MESH:C106643"], "information_content": 92.8}
{"id": "NCBIGene:388561", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF761", "equivalent_identifiers": ["NCBIGene:388561", "ENSEMBL:ENSG00000160336", "HGNC:23179", "UMLS:C1824036", "UniProtKB:Q6IQ01", "ENSEMBL:ENSP00000481271", "ENSEMBL:ENSP00000481271.1", "UniProtKB:Q86XN6", "PR:Q86XN6", "ENSEMBL:ENSP00000480218", "ENSEMBL:ENSP00000480218.1", "ENSEMBL:ENSP00000507666", "ENSEMBL:ENSP00000507666.1"]}
{"id": "NCBIGene:10991", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC38A3", "equivalent_identifiers": ["NCBIGene:10991", "ENSEMBL:ENSG00000188338", "HGNC:18044", "OMIM:604437", "UMLS:C1442750", "UniProtKB:Q99624", "PR:Q99624", "ENSEMBL:ENSP00000481301", "ENSEMBL:ENSP00000481301.1", "UMLS:C1432555", "MESH:C101832"], "information_content": 100.0}
{"id": "NCBIGene:404203", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPINK6", "equivalent_identifiers": ["NCBIGene:404203", "ENSEMBL:ENSG00000178172", "HGNC:29486", "OMIM:615868", "UMLS:C1539843", "UniProtKB:Q6UWN8", "PR:Q6UWN8", "ENSEMBL:ENSP00000324870", "ENSEMBL:ENSP00000324870.2", "ENSEMBL:ENSP00000481309", "ENSEMBL:ENSP00000481309.1", "UMLS:C2973699", "MESH:C553928"], "information_content": 95.4}
{"id": "UniProtKB:P55773-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-C motif chemokine 23 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P55773-2", "PR:P55773-2", "ENSEMBL:ENSP00000481357", "ENSEMBL:ENSP00000481357.1"], "information_content": 100.0}
{"id": "UniProtKB:P0DTE8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AMY1C_HUMAN Alpha-amylase 1C (sprot)", "equivalent_identifiers": ["UniProtKB:P0DTE8", "PR:P0DTE8", "ENSEMBL:ENSP00000359096", "ENSEMBL:ENSP00000359096.3", "ENSEMBL:ENSP00000481450", "ENSEMBL:ENSP00000481450.2", "ENSEMBL:ENSP00000507077", "ENSEMBL:ENSP00000507077.1"], "information_content": 95.4}
{"id": "NCBIGene:283116", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM49B", "equivalent_identifiers": ["NCBIGene:283116", "ENSEMBL:ENSG00000182053", "HGNC:42955", "UMLS:C3543890", "UniProtKB:A6NDI0", "PR:A6NDI0", "ENSEMBL:ENSP00000330216", "ENSEMBL:ENSP00000330216.7", "ENSEMBL:ENSP00000481457", "ENSEMBL:ENSP00000481457.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H4H8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM83D isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H4H8-1", "PR:Q9H4H8-1", "ENSEMBL:ENSP00000481465", "ENSEMBL:ENSP00000481465.1"], "information_content": 100.0}
{"id": "UniProtKB:B4DH59-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NBPF family member NBPF26 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:B4DH59-1", "PR:B4DH59-1", "ENSEMBL:ENSP00000481542", "ENSEMBL:ENSP00000481542.4"], "information_content": 100.0}
{"id": "UniProtKB:P42263-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutamate receptor 3 isoform Flop (human)", "equivalent_identifiers": ["UniProtKB:P42263-1", "PR:P42263-1", "ENSEMBL:ENSP00000481554", "ENSEMBL:ENSP00000481554.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6IN84-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rRNA methyltransferase 1, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6IN84-1", "PR:Q6IN84-1", "ENSEMBL:ENSP00000478520", "ENSEMBL:ENSP00000478520.1", "ENSEMBL:ENSP00000481559", "ENSEMBL:ENSP00000481559.1"], "information_content": 100.0}
{"id": "NCBIGene:7128", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TNFAIP3", "equivalent_identifiers": ["NCBIGene:7128", "ENSEMBL:ENSG00000118503", "HGNC:11896", "OMIM:191163", "UMLS:C1420799", "UniProtKB:P21580", "PR:P21580", "ENSEMBL:ENSP00000237289", "ENSEMBL:ENSP00000237289.4", "ENSEMBL:ENSP00000393577", "ENSEMBL:ENSP00000393577.2", "ENSEMBL:ENSP00000401562", "ENSEMBL:ENSP00000401562.2", "ENSEMBL:ENSP00000409845", "ENSEMBL:ENSP00000409845.2", "ENSEMBL:ENSP00000481570", "ENSEMBL:ENSP00000481570.1", "UMLS:C0171965", "MESH:C076529"], "information_content": 87.2}
{"id": "MONDO:0011832", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 44", "equivalent_identifiers": ["MONDO:0011832", "DOID:0110569", "OMIM:607453", "UMLS:C1843895", "MESH:C564399", "medgen:334525"], "information_content": 100.0}
{"id": "UniProtKB:A8CG34-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear envelope pore membrane protein POM 121C isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:A8CG34-2", "PR:A8CG34-2", "ENSEMBL:ENSP00000481575", "ENSEMBL:ENSP00000481575.1"], "information_content": 100.0}
{"id": "MONDO:0013387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 7", "equivalent_identifiers": ["MONDO:0013387", "DOID:0080462", "OMIM:613720", "orphanet:439218", "UMLS:C3150986", "NCIT:C192087", "medgen:462336"], "information_content": 100.0}
{"id": "NCBIGene:2297", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXD1", "equivalent_identifiers": ["NCBIGene:2297", "ENSEMBL:ENSG00000251493", "HGNC:3802", "OMIM:601091", "UMLS:C1414670", "UniProtKB:Q16676", "PR:Q16676", "ENSEMBL:ENSP00000481581", "ENSEMBL:ENSP00000481581.1", "UMLS:C1569550", "MESH:C500800"], "information_content": 100.0}
{"id": "NCBIGene:109703458", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HTD2", "equivalent_identifiers": ["NCBIGene:109703458", "ENSEMBL:ENSG00000255154", "HGNC:53111", "OMIM:620769", "UMLS:C4320403", "UniProtKB:P86397", "PR:P86397", "ENSEMBL:ENSP00000481593", "ENSEMBL:ENSP00000481593.1", "ENSEMBL:ENSP00000482940", "ENSEMBL:ENSP00000482940.1", "ENSEMBL:ENSP00000484277", "ENSEMBL:ENSP00000484277.1"], "information_content": 95.4}
{"id": "NCBIGene:390084", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR56A5", "equivalent_identifiers": ["NCBIGene:390084", "ENSEMBL:ENSG00000188691", "HGNC:14792", "UMLS:C1422939", "UniProtKB:A0A126GWP3", "UniProtKB:P0C7T3", "PR:P0C7T3", "ENSEMBL:ENSP00000481594", "ENSEMBL:ENSP00000481594.1"], "information_content": 100.0}
{"id": "UniProtKB:A0AAG2SYH1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0AAG2SYH1_HUMAN POM121-like protein 1 (trembl)", "equivalent_identifiers": ["UniProtKB:A0AAG2SYH1", "ENSEMBL:ENSP00000481613", "ENSEMBL:ENSP00000481613.1"]}
{"id": "NCBIGene:54145", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BC12L", "equivalent_identifiers": ["NCBIGene:54145", "ENSEMBL:ENSG00000234289", "HGNC:4762", "UMLS:C5202864", "UniProtKB:P57053", "PR:P57053", "ENSEMBL:ENSP00000481622", "ENSEMBL:ENSP00000481622.1", "UMLS:C5202787"], "information_content": 83.1}
{"id": "NCBIGene:6533", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC6A6", "equivalent_identifiers": ["NCBIGene:6533", "ENSEMBL:ENSG00000131389", "HGNC:11052", "OMIM:186854", "UMLS:C1420216", "UniProtKB:A0A087WY96", "ENSEMBL:ENSP00000481625", "ENSEMBL:ENSP00000481625.1", "UMLS:C1435540", "UniProtKB:B4E140", "UniProtKB:P31641", "PR:P31641", "UniProtKB:Q59GD7"]}
{"id": "UniProtKB:Q96B23-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein ARK2N isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96B23-1", "PR:Q96B23-1", "ENSEMBL:ENSP00000481626", "ENSEMBL:ENSP00000481626.1"], "information_content": 100.0}
{"id": "NCBIGene:282617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFNL3", "equivalent_identifiers": ["NCBIGene:282617", "ENSEMBL:ENSG00000197110", "HGNC:18365", "OMIM:607402", "UMLS:C1425475", "UniProtKB:A0A0C4DGW8", "ENSEMBL:ENSP00000481633", "ENSEMBL:ENSP00000481633.1", "ENSEMBL:ENSP00000517480", "ENSEMBL:ENSP00000517480.1", "UniProtKB:Q8IZI9", "PR:Q8IZI9", "ENSEMBL:ENSP00000409000", "ENSEMBL:ENSP00000409000.2", "ENSEMBL:ENSP00000517481", "ENSEMBL:ENSP00000517481.1", "UMLS:C1174094"]}
{"id": "MONDO:0000878", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cytomegalovirus retinitis", "equivalent_identifiers": ["MONDO:0000878", "DOID:0080160", "EFO:1001302", "UMLS:C0206178", "MESH:D017726", "MEDDRA:10009704", "MEDDRA:10011835", "NCIT:C50521", "SNOMEDCT:22455005", "medgen:61532"], "information_content": 100.0}
{"id": "NCBIGene:6204", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS10", "equivalent_identifiers": ["NCBIGene:6204", "ENSEMBL:ENSG00000124614", "HGNC:10383", "OMIM:603632", "UMLS:C1419699", "UniProtKB:P46783", "PR:P46783", "ENSEMBL:ENSP00000481646", "ENSEMBL:ENSP00000481646.1", "ENSEMBL:ENSP00000494190", "ENSEMBL:ENSP00000494190.1", "ENSEMBL:ENSP00000494440", "ENSEMBL:ENSP00000494440.1", "ENSEMBL:ENSP00000497917", "ENSEMBL:ENSP00000497917.1", "UMLS:C4549929", "UMLS:C5445012", "MESH:C000622635"], "information_content": 90.9}
{"id": "NCBIGene:10252", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPRY1", "equivalent_identifiers": ["NCBIGene:10252", "ENSEMBL:ENSG00000164056", "HGNC:11269", "OMIM:602465", "UMLS:C1420382", "UniProtKB:O43609", "PR:O43609", "ENSEMBL:ENSP00000343785", "ENSEMBL:ENSP00000343785.1", "ENSEMBL:ENSP00000377871", "ENSEMBL:ENSP00000377871.2", "ENSEMBL:ENSP00000480540", "ENSEMBL:ENSP00000480540.1", "ENSEMBL:ENSP00000481675", "ENSEMBL:ENSP00000481675.1", "ENSEMBL:ENSP00000498292", "ENSEMBL:ENSP00000498292.1", "UMLS:C1450149", "UMLS:C3828456", "MESH:C486055"], "information_content": 95.4}
{"id": "UniProtKB:A6NGN4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PRA25_HUMAN PRAME family member 25 (sprot)", "equivalent_identifiers": ["UniProtKB:A6NGN4", "PR:A6NGN4", "ENSEMBL:ENSP00000478309", "ENSEMBL:ENSP00000478309.2", "ENSEMBL:ENSP00000481683", "ENSEMBL:ENSP00000481683.1", "ENSEMBL:ENSP00000481973", "ENSEMBL:ENSP00000481973.1", "ENSEMBL:ENSP00000488003", "ENSEMBL:ENSP00000488003.1", "ENSEMBL:ENSP00000488324", "ENSEMBL:ENSP00000488324.1", "ENSEMBL:ENSP00000490751", "ENSEMBL:ENSP00000490751.1", "ENSEMBL:ENSP00000490779", "ENSEMBL:ENSP00000490779.1"], "information_content": 95.4}
{"id": "NCBIGene:728661", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC35E2B", "equivalent_identifiers": ["NCBIGene:728661", "ENSEMBL:ENSG00000189339", "HGNC:33941", "OMIM:619315", "UMLS:C3146465", "UniProtKB:P0CK96", "PR:P0CK96", "ENSEMBL:ENSP00000481694", "ENSEMBL:ENSP00000481694.1", "ENSEMBL:ENSP00000484635", "ENSEMBL:ENSP00000484635.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96IZ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/Arginine-related protein 53 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96IZ7-1", "PR:Q96IZ7-1", "ENSEMBL:ENSP00000295930", "ENSEMBL:ENSP00000295930.3", "ENSEMBL:ENSP00000420150", "ENSEMBL:ENSP00000420150.1", "ENSEMBL:ENSP00000481697", "ENSEMBL:ENSP00000481697.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYX2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 2A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYX2-1", "PR:Q9BYX2-1", "ENSEMBL:ENSP00000481721", "ENSEMBL:ENSP00000481721.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H172-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family G member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H172-1", "PR:Q9H172-1", "ENSEMBL:ENSP00000479253", "ENSEMBL:ENSP00000479253.1", "ENSEMBL:ENSP00000481728", "ENSEMBL:ENSP00000481728.1", "ENSEMBL:ENSP00000484289", "ENSEMBL:ENSP00000484289.1"], "information_content": 100.0}
{"id": "NCBIGene:55588", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MED29", "equivalent_identifiers": ["NCBIGene:55588", "ENSEMBL:ENSG00000063322", "HGNC:23074", "OMIM:612914", "UMLS:C1537429", "UniProtKB:B4DUA7", "ENSEMBL:ENSP00000481733", "ENSEMBL:ENSP00000481733.1", "UMLS:C1871916", "MESH:C518742", "UniProtKB:Q9NX70", "PR:Q9NX70"]}
{"id": "NCBIGene:55317", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AP5S1", "equivalent_identifiers": ["NCBIGene:55317", "ENSEMBL:ENSG00000125843", "HGNC:15875", "OMIM:614824", "UMLS:C3471304", "UniProtKB:Q9NUS5", "PR:Q9NUS5", "ENSEMBL:ENSP00000368886", "ENSEMBL:ENSP00000368886.2", "ENSEMBL:ENSP00000405487", "ENSEMBL:ENSP00000405487.2", "ENSEMBL:ENSP00000481750", "ENSEMBL:ENSP00000481750.1", "ENSEMBL:ENSP00000520567", "ENSEMBL:ENSP00000520567.1"], "information_content": 100.0}
{"id": "UniProtKB:O75534-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cold shock domain-containing protein E1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:O75534-4", "PR:O75534-4", "ENSEMBL:ENSP00000481762", "ENSEMBL:ENSP00000481762.1", "ENSEMBL:ENSP00000508995", "ENSEMBL:ENSP00000508995.1"], "information_content": 100.0}
{"id": "NCBIGene:100316904", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAP25", "equivalent_identifiers": ["NCBIGene:100316904", "ENSEMBL:ENSG00000205307", "HGNC:41908", "OMIM:619230", "UMLS:C3146439", "UniProtKB:A0A087WYF9", "ENSEMBL:ENSP00000481773", "ENSEMBL:ENSP00000481773.2", "UniProtKB:Q8TEE9", "PR:Q8TEE9", "ENSEMBL:ENSP00000442339", "ENSEMBL:ENSP00000442339.1", "ENSEMBL:ENSP00000481351", "ENSEMBL:ENSP00000481351.1"]}
{"id": "NCBIGene:23162", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAPK8IP3", "equivalent_identifiers": ["NCBIGene:23162", "ENSEMBL:ENSG00000138834", "HGNC:6884", "OMIM:605431", "UMLS:C1417026", "UniProtKB:A0A087WYG2", "ENSEMBL:ENSP00000481780", "ENSEMBL:ENSP00000481780.1", "UMLS:C1436798", "MESH:C485750", "UniProtKB:B7ZMF3", "UniProtKB:E9PFH7", "ENSEMBL:ENSP00000348290", "ENSEMBL:ENSP00000348290.5", "UniProtKB:Q9UPT6", "PR:Q9UPT6"]}
{"id": "UniProtKB:Q9BY79-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane frizzled-related protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BY79-1", "PR:Q9BY79-1", "ENSEMBL:ENSP00000481824", "ENSEMBL:ENSP00000481824.1"], "information_content": 100.0}
{"id": "NCBIGene:51440", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HPCAL4", "equivalent_identifiers": ["NCBIGene:51440", "ENSEMBL:ENSG00000116983", "HGNC:18212", "OMIM:619211", "UMLS:C1425377", "UniProtKB:B4DGW9", "ENSEMBL:ENSP00000484070", "ENSEMBL:ENSP00000484070.1", "UniProtKB:Q9UM19", "PR:Q9UM19", "ENSEMBL:ENSP00000361935", "ENSEMBL:ENSP00000361935.3", "ENSEMBL:ENSP00000481834", "ENSEMBL:ENSP00000481834.1"], "information_content": 95.4}
{"id": "UniProtKB:P25063-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal transducer CD24 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P25063-2", "PR:P25063-2", "ENSEMBL:ENSP00000481841", "ENSEMBL:ENSP00000481841.1"], "information_content": 100.0}
{"id": "UniProtKB:O00422-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone deacetylase complex subunit SAP18 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O00422-2", "PR:O00422-2", "ENSEMBL:ENSP00000371973", "ENSEMBL:ENSP00000371973.4", "ENSEMBL:ENSP00000481842", "ENSEMBL:ENSP00000481842.1"], "information_content": 100.0}
{"id": "NCBIGene:3782", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNN3", "equivalent_identifiers": ["NCBIGene:3782", "ENSEMBL:ENSG00000143603", "HGNC:6292", "OMIM:602983", "UMLS:C1416610", "UniProtKB:A0A087WYJ0", "ENSEMBL:ENSP00000481848", "ENSEMBL:ENSP00000481848.1", "UMLS:C0759536", "MESH:C406328", "UniProtKB:Q9UGI6", "PR:Q9UGI6"]}
{"id": "UniProtKB:Q8NE31-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM13C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NE31-1", "PR:Q8NE31-1", "ENSEMBL:ENSP00000481854", "ENSEMBL:ENSP00000481854.1"], "information_content": 100.0}
{"id": "UniProtKB:Q504Q3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PAN2-PAN3 deadenylation complex catalytic subunit PAN2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q504Q3-1", "PR:Q504Q3-1", "ENSEMBL:ENSP00000401721", "ENSEMBL:ENSP00000401721.2", "ENSEMBL:ENSP00000449861", "ENSEMBL:ENSP00000449861.1", "ENSEMBL:ENSP00000481859", "ENSEMBL:ENSP00000481859.1"], "information_content": 100.0}
{"id": "UniProtKB:O15173-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "membrane-associated progesterone receptor component 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O15173-2", "PR:O15173-2", "ENSEMBL:ENSP00000481886", "ENSEMBL:ENSP00000481886.1"], "information_content": 100.0}
{"id": "NCBIGene:57472", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CNOT6", "equivalent_identifiers": ["NCBIGene:57472", "ENSEMBL:ENSG00000113300", "HGNC:14099", "OMIM:608951", "UMLS:C1422405", "UniProtKB:Q9ULM6", "PR:Q9ULM6", "ENSEMBL:ENSP00000261951", "ENSEMBL:ENSP00000261951.4", "ENSEMBL:ENSP00000377024", "ENSEMBL:ENSP00000377024.1", "ENSEMBL:ENSP00000481893", "ENSEMBL:ENSP00000481893.1"], "information_content": 90.9}
{"id": "NCBIGene:55501", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHST12", "equivalent_identifiers": ["NCBIGene:55501", "ENSEMBL:ENSG00000136213", "HGNC:17423", "OMIM:610129", "UMLS:C1424961", "UniProtKB:Q9NRB3", "PR:Q9NRB3", "ENSEMBL:ENSP00000258711", "ENSEMBL:ENSP00000258711.6", "ENSEMBL:ENSP00000481912", "ENSEMBL:ENSP00000481912.1", "UMLS:C1439075", "MESH:C411660"], "information_content": 100.0}
{"id": "NCBIGene:26470", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEZ6L2", "equivalent_identifiers": ["NCBIGene:26470", "ENSEMBL:ENSG00000174938", "HGNC:30844", "OMIM:616667", "UMLS:C1539758", "UniProtKB:A0A087WYL5", "ENSEMBL:ENSP00000481917", "ENSEMBL:ENSP00000481917.1", "UMLS:C1737996", "MESH:C513545", "UniProtKB:A0A0A8K8P7", "UniProtKB:B7Z5L4", "UniProtKB:Q6UXD5", "PR:Q6UXD5"]}
{"id": "UniProtKB:Q96BA8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cyclic AMP-responsive element-binding protein 3-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96BA8-1", "PR:Q96BA8-1", "ENSEMBL:ENSP00000481956", "ENSEMBL:ENSP00000481956.1"], "information_content": 100.0}
{"id": "MONDO:0007895", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "platyspondylic dysplasia, Torrance type", "equivalent_identifiers": ["MONDO:0007895", "DOID:0111508", "OMIM:151210", "orphanet:85166", "UMLS:C1835437", "MESH:C563627", "medgen:331974", "icd11.foundation:263213426"], "information_content": 100.0}
{"id": "NCBIGene:2051", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPHB6", "equivalent_identifiers": ["NCBIGene:2051", "ENSEMBL:ENSG00000106123", "HGNC:3396", "OMIM:602757", "UMLS:C1414432", "UniProtKB:A0A0G2JNH7", "ENSEMBL:ENSP00000481418", "ENSEMBL:ENSP00000481418.1", "ENSEMBL:ENSP00000487627", "ENSEMBL:ENSP00000487627.1", "UniProtKB:F8WCM8", "ENSEMBL:ENSP00000404786", "ENSEMBL:ENSP00000404786.2", "ENSEMBL:ENSP00000481994", "ENSEMBL:ENSP00000481994.1", "ENSEMBL:ENSP00000498670", "ENSEMBL:ENSP00000498670.1", "UniProtKB:O15197", "PR:O15197", "UMLS:C0540659", "MESH:C106797"]}
{"id": "UniProtKB:Q92570-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor subfamily 4 group A member 3 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q92570-3", "PR:Q92570-3", "ENSEMBL:ENSP00000333122", "ENSEMBL:ENSP00000333122.1", "ENSEMBL:ENSP00000482027", "ENSEMBL:ENSP00000482027.1"], "information_content": 100.0}
{"id": "NCBIGene:7549", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF2", "equivalent_identifiers": ["NCBIGene:7549", "ENSEMBL:ENSG00000275111", "HGNC:12991", "OMIM:194500", "UMLS:C1421688", "UniProtKB:A0A087WYR5", "ENSEMBL:ENSP00000482030", "ENSEMBL:ENSP00000482030.1", "UMLS:C1431835", "MESH:C118913", "UniProtKB:B4DR15", "UniProtKB:Q68CY6", "ENSEMBL:ENSP00000477960", "ENSEMBL:ENSP00000477960.1", "UniProtKB:Q9BSG1", "PR:Q9BSG1"]}
{"id": "UniProtKB:Q92551-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inositol hexakisphosphate kinase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q92551-1", "PR:Q92551-1", "ENSEMBL:ENSP00000323780", "ENSEMBL:ENSP00000323780.4", "ENSEMBL:ENSP00000482032", "ENSEMBL:ENSP00000482032.1"], "information_content": 100.0}
{"id": "NCBIGene:7703", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PCGF2", "equivalent_identifiers": ["NCBIGene:7703", "ENSEMBL:ENSG00000277258", "HGNC:12929", "OMIM:600346", "UMLS:C1538598", "UniProtKB:P35227", "PR:P35227", "ENSEMBL:ENSP00000478517", "ENSEMBL:ENSP00000478517.1", "ENSEMBL:ENSP00000478970", "ENSEMBL:ENSP00000478970.1", "ENSEMBL:ENSP00000482063", "ENSEMBL:ENSP00000482063.1", "ENSEMBL:ENSP00000482815", "ENSEMBL:ENSP00000482815.1", "ENSEMBL:ENSP00000488868", "ENSEMBL:ENSP00000488868.1", "ENSEMBL:ENSP00000488872", "ENSEMBL:ENSP00000488872.1", "UMLS:C1454282", "MESH:C489348"], "information_content": 92.8}
{"id": "NCBIGene:10728", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTGES3", "equivalent_identifiers": ["NCBIGene:10728", "ENSEMBL:ENSG00000110958", "HGNC:16049", "OMIM:607061", "UMLS:C1846861", "UniProtKB:A0A087WYT3", "ENSEMBL:ENSP00000482075", "ENSEMBL:ENSP00000482075.1", "UMLS:C1505608", "MESH:C490849", "UniProtKB:B3KUY2", "UniProtKB:Q15185", "PR:Q15185"]}
{"id": "UniProtKB:P56645-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "period circadian protein homolog 3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P56645-2", "PR:P56645-2", "ENSEMBL:ENSP00000366755", "ENSEMBL:ENSP00000366755.3", "ENSEMBL:ENSP00000482093", "ENSEMBL:ENSP00000482093.1"], "information_content": 100.0}
{"id": "NCBIGene:392843", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DRC11L", "equivalent_identifiers": ["NCBIGene:392843", "ENSEMBL:ENSG00000278685", "HGNC:22831", "UMLS:C2681617", "UniProtKB:A6NCM1", "PR:A6NCM1", "ENSEMBL:ENSP00000482119", "ENSEMBL:ENSP00000482119.1", "UniProtKB:E0ZS59"], "information_content": 100.0}
{"id": "NCBIGene:4747", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NEFL", "equivalent_identifiers": ["NCBIGene:4747", "ENSEMBL:ENSG00000277586", "HGNC:7739", "OMIM:162280", "UMLS:C1417668", "UniProtKB:P07196", "PR:P07196", "ENSEMBL:ENSP00000482169", "ENSEMBL:ENSP00000482169.2", "UMLS:C1455438"], "information_content": 92.8}
{"id": "NCBIGene:65998", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZFTA", "equivalent_identifiers": ["NCBIGene:65998", "ENSEMBL:ENSG00000188070", "HGNC:28449", "OMIM:615699", "UMLS:C2828858", "UniProtKB:C9JLR9", "PR:C9JLR9", "ENSEMBL:ENSP00000482180", "ENSEMBL:ENSP00000482180.1", "UMLS:C4288076", "MESH:C585140"], "information_content": 100.0}
{"id": "NCBIGene:284098", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIGW", "equivalent_identifiers": ["NCBIGene:284098", "ENSEMBL:ENSG00000277161", "HGNC:23213", "OMIM:610275", "UMLS:C1427992", "UniProtKB:Q7Z7B1", "PR:Q7Z7B1", "ENSEMBL:ENSP00000480021", "ENSEMBL:ENSP00000480021.1", "ENSEMBL:ENSP00000481144", "ENSEMBL:ENSP00000481144.1", "ENSEMBL:ENSP00000482202", "ENSEMBL:ENSP00000482202.1", "ENSEMBL:ENSP00000488033", "ENSEMBL:ENSP00000488033.1", "UMLS:C5197443", "MESH:C000632326"], "information_content": 100.0}
{"id": "NCBIGene:1081", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CGA", "equivalent_identifiers": ["NCBIGene:1081", "ENSEMBL:ENSG00000135346", "HGNC:1885", "OMIM:118850", "UMLS:C1413366", "UniProtKB:A0A087WYZ4", "ENSEMBL:ENSP00000482232", "ENSEMBL:ENSP00000482232.1", "UniProtKB:P01215", "PR:P01215", "ENSEMBL:ENSP00000486024", "ENSEMBL:ENSP00000486024.1", "UMLS:C0018664", "MESH:C554042", "UniProtKB:Q6I9S8"]}
{"id": "UniProtKB:Q9UI36-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dachshund homolog 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UI36-2", "PR:Q9UI36-2", "ENSEMBL:ENSP00000482245", "ENSEMBL:ENSP00000482245.1"], "information_content": 100.0}
{"id": "UniProtKB:P13236", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCL4_HUMAN C-C motif chemokine 4 (sprot)", "equivalent_identifiers": ["UniProtKB:P13236", "PR:P13236", "ENSEMBL:ENSP00000478708", "ENSEMBL:ENSP00000478708.1", "ENSEMBL:ENSP00000480345", "ENSEMBL:ENSP00000480345.1", "ENSEMBL:ENSP00000482259", "ENSEMBL:ENSP00000482259.1", "UMLS:C1429582", "MESH:C066507"], "information_content": 88.2}
{"id": "NCBIGene:8694", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DGAT1", "equivalent_identifiers": ["NCBIGene:8694", "ENSEMBL:ENSG00000185000", "HGNC:2843", "OMIM:604900", "UMLS:C1414024", "UniProtKB:O75907", "PR:O75907", "ENSEMBL:ENSP00000482264", "ENSEMBL:ENSP00000482264.1", "ENSEMBL:ENSP00000495489", "ENSEMBL:ENSP00000495489.1", "UMLS:C1530851", "MESH:C494881"], "information_content": 92.8}
{"id": "UniProtKB:A8MYA2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CX049_HUMAN Uncharacterized protein CXorf49 (sprot)", "equivalent_identifiers": ["UniProtKB:A8MYA2", "PR:A8MYA2", "ENSEMBL:ENSP00000480355", "ENSEMBL:ENSP00000480355.1", "ENSEMBL:ENSP00000482270", "ENSEMBL:ENSP00000482270.1"], "information_content": 100.0}
{"id": "NCBIGene:25900", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFFO1", "equivalent_identifiers": ["NCBIGene:25900", "ENSEMBL:ENSG00000010295", "HGNC:24970", "OMIM:610495", "UMLS:C2239524", "UniProtKB:A0A087WZ16", "ENSEMBL:ENSP00000482285", "ENSEMBL:ENSP00000482285.1", "UMLS:C5226827", "MESH:C000654807", "UniProtKB:B4DQQ1", "UniProtKB:Q0D2I5", "PR:Q0D2I5", "UniProtKB:Q6P593"]}
{"id": "NCBIGene:57829", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZP4", "equivalent_identifiers": ["NCBIGene:57829", "ENSEMBL:ENSG00000116996", "HGNC:15770", "OMIM:613514", "UMLS:C1423719", "UniProtKB:Q12836", "PR:Q12836", "ENSEMBL:ENSP00000355529", "ENSEMBL:ENSP00000355529.4", "ENSEMBL:ENSP00000482304", "ENSEMBL:ENSP00000482304.1", "UMLS:C1447245", "MESH:C082833"], "information_content": 100.0}
{"id": "MONDO:0010170", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Usher syndrome type 3A", "equivalent_identifiers": ["MONDO:0010170", "DOID:0110841", "OMIM:276902", "UMLS:C5779850", "medgen:1830415"], "information_content": 100.0}
{"id": "NCBIGene:9401", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RECQL4", "equivalent_identifiers": ["NCBIGene:9401", "ENSEMBL:ENSG00000160957", "HGNC:9949", "OMIM:603780", "UMLS:C1335607", "UniProtKB:A0A087X072", "ENSEMBL:ENSP00000483145", "ENSEMBL:ENSP00000483145.1", "UniProtKB:O94761", "PR:O94761", "ENSEMBL:ENSP00000482313", "ENSEMBL:ENSP00000482313.2", "UMLS:C1433276", "MESH:C506731"], "information_content": 95.4}
{"id": "NCBIGene:9053", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAP7", "equivalent_identifiers": ["NCBIGene:9053", "ENSEMBL:ENSG00000135525", "HGNC:6869", "OMIM:604108", "UMLS:C1417023", "UniProtKB:A0A087WZ40", "ENSEMBL:ENSP00000482335", "ENSEMBL:ENSP00000482335.1", "UMLS:C5773030", "MESH:C000721969", "UniProtKB:B7Z3E1", "UniProtKB:B7Z3Y3", "UniProtKB:B7ZB64", "UniProtKB:Q14244", "PR:Q14244"]}
{"id": "UniProtKB:Q6IPX1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC3C_HUMAN TBC1 domain family member 3C (sprot)", "equivalent_identifiers": ["UniProtKB:Q6IPX1", "PR:Q6IPX1", "ENSEMBL:ENSP00000482345", "ENSEMBL:ENSP00000482345.1"], "information_content": 100.0}
{"id": "NCBIGene:400668", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS57", "equivalent_identifiers": ["NCBIGene:400668", "ENSEMBL:ENSG00000185198", "HGNC:31397", "UMLS:C1538732", "UniProtKB:A0A0A0MR61", "ENSEMBL:ENSP00000327386", "ENSEMBL:ENSP00000327386.6", "UniProtKB:B7ZMF6", "UniProtKB:Q6UWY2", "PR:Q6UWY2", "ENSEMBL:ENSP00000482358", "ENSEMBL:ENSP00000482358.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H6K5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich protein 36 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H6K5-1", "PR:Q9H6K5-1", "ENSEMBL:ENSP00000482374", "ENSEMBL:ENSP00000482374.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A087WZ62", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A087WZ62_HUMAN Mannosyltransferase (trembl)", "equivalent_identifiers": ["UniProtKB:A0A087WZ62", "ENSEMBL:ENSP00000482396", "ENSEMBL:ENSP00000482396.1"]}
{"id": "MONDO:0014040", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive osteopetrosis 8", "equivalent_identifiers": ["MONDO:0014040", "DOID:0110940", "OMIM:615085", "UMLS:C3554478", "NCIT:C150556", "medgen:767392"], "information_content": 100.0}
{"id": "UniProtKB:O75564-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "jerky protein homolog isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75564-2", "PR:O75564-2", "ENSEMBL:ENSP00000482410", "ENSEMBL:ENSP00000482410.1", "ENSEMBL:ENSP00000485390", "ENSEMBL:ENSP00000485390.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15528-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mediator of RNA polymerase II transcription subunit 22 isoform Surf5B (human)", "equivalent_identifiers": ["UniProtKB:Q15528-1", "PR:Q15528-1", "ENSEMBL:ENSP00000342343", "ENSEMBL:ENSP00000342343.5", "ENSEMBL:ENSP00000482438", "ENSEMBL:ENSP00000482438.1", "ENSEMBL:ENSP00000485880", "ENSEMBL:ENSP00000485880.1", "ENSEMBL:ENSP00000487580", "ENSEMBL:ENSP00000487580.1"], "information_content": 100.0}
{"id": "NCBIGene:100533181", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FXYD6-FXYD2", "equivalent_identifiers": ["NCBIGene:100533181", "ENSEMBL:ENSG00000255245", "HGNC:39978", "UMLS:C3539402", "UniProtKB:A0A087WZ82", "ENSEMBL:ENSP00000482442", "ENSEMBL:ENSP00000482442.1", "UniProtKB:A0A0A6YYL5", "ENSEMBL:ENSP00000463024"]}
{"id": "UniProtKB:Q9BRX8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peroxiredoxin-like 2A isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BRX8-1", "PR:Q9BRX8-1", "ENSEMBL:ENSP00000361254", "ENSEMBL:ENSP00000361254.1", "ENSEMBL:ENSP00000361261", "ENSEMBL:ENSP00000361261.5", "ENSEMBL:ENSP00000361262", "ENSEMBL:ENSP00000361262.1", "ENSEMBL:ENSP00000478152", "ENSEMBL:ENSP00000478152.1", "ENSEMBL:ENSP00000482445", "ENSEMBL:ENSP00000482445.1"], "information_content": 100.0}
{"id": "NCBIGene:5336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLCG2", "equivalent_identifiers": ["NCBIGene:5336", "ENSEMBL:ENSG00000197943", "HGNC:9066", "OMIM:600220", "UMLS:C1335226", "UniProtKB:P16885", "PR:P16885", "ENSEMBL:ENSP00000482457", "ENSEMBL:ENSP00000482457.1", "ENSEMBL:ENSP00000520637", "ENSEMBL:ENSP00000520637.1", "ENSEMBL:ENSP00000520638", "ENSEMBL:ENSP00000520638.1", "UMLS:C1377870", "MESH:C000708928"], "information_content": 84.8}
{"id": "UniProtKB:Q9Y5X4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "photoreceptor-specific nuclear receptor isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5X4-1", "PR:Q9Y5X4-1", "ENSEMBL:ENSP00000482504", "ENSEMBL:ENSP00000482504.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6JVE9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epididymal-specific lipocalin-8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6JVE9-1", "PR:Q6JVE9-1", "ENSEMBL:ENSP00000482512", "ENSEMBL:ENSP00000482512.1"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000482514", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000482514", "equivalent_identifiers": ["ENSEMBL:ENSP00000482514"]}
{"id": "UniProtKB:Q9NUQ6-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SPATS2-like protein isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUQ6-3", "PR:Q9NUQ6-3", "ENSEMBL:ENSP00000482515", "ENSEMBL:ENSP00000482515.1"], "information_content": 100.0}
{"id": "NCBIGene:284040", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CDRT4", "equivalent_identifiers": ["NCBIGene:284040", "ENSEMBL:ENSG00000239704", "HGNC:14383", "UMLS:C1422606", "UniProtKB:Q8N9R6", "PR:Q8N9R6", "ENSEMBL:ENSP00000482523", "ENSEMBL:ENSP00000482523.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5TYW1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 658 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5TYW1-1", "PR:Q5TYW1-1", "ENSEMBL:ENSP00000482447", "ENSEMBL:ENSP00000482447.1", "ENSEMBL:ENSP00000482540", "ENSEMBL:ENSP00000482540.1"], "information_content": 100.0}
{"id": "NCBIGene:4700", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDUFA6", "equivalent_identifiers": ["NCBIGene:4700", "ENSEMBL:ENSG00000184983", "HGNC:7690", "OMIM:602138", "UMLS:C1417627", "UniProtKB:A0A2Y9D025", "ENSEMBL:ENSP00000475816", "ENSEMBL:ENSP00000475816.1", "ENSEMBL:ENSP00000482543", "ENSEMBL:ENSP00000482543.1", "ENSEMBL:ENSP00000484723", "ENSEMBL:ENSP00000484723.1", "UniProtKB:P56556", "PR:P56556", "ENSEMBL:ENSP00000418842", "ENSEMBL:ENSP00000418842.3", "ENSEMBL:ENSP00000475402", "ENSEMBL:ENSP00000475402.1", "ENSEMBL:ENSP00000486781", "ENSEMBL:ENSP00000486781.1", "ENSEMBL:ENSP00000487431", "ENSEMBL:ENSP00000487431.2", "ENSEMBL:ENSP00000487462", "ENSEMBL:ENSP00000487462.1"]}
{"id": "UniProtKB:O95072-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "meiotic recombination protein REC8 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95072-1", "PR:O95072-1", "ENSEMBL:ENSP00000482439", "ENSEMBL:ENSP00000482439.1", "ENSEMBL:ENSP00000482546", "ENSEMBL:ENSP00000482546.1", "ENSEMBL:ENSP00000493523", "ENSEMBL:ENSP00000493523.1", "ENSEMBL:ENSP00000495458", "ENSEMBL:ENSP00000495458.1"], "information_content": 100.0}
{"id": "UniProtKB:P78356-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P78356-1", "PR:P78356-1", "ENSEMBL:ENSP00000480776", "ENSEMBL:ENSP00000480776.1", "ENSEMBL:ENSP00000482548", "ENSEMBL:ENSP00000482548.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96D31-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium release-activated calcium channel protein 1 isoform alpha (human)", "equivalent_identifiers": ["UniProtKB:Q96D31-1", "PR:Q96D31-1", "ENSEMBL:ENSP00000482568", "ENSEMBL:ENSP00000482568.2", "ENSEMBL:ENSP00000520498", "ENSEMBL:ENSP00000520498.1"], "information_content": 100.0}
{"id": "NCBIGene:117581", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TWIST2", "equivalent_identifiers": ["NCBIGene:117581", "ENSEMBL:ENSG00000233608", "HGNC:20670", "OMIM:607556", "UMLS:C1427070", "UniProtKB:Q8WVJ9", "PR:Q8WVJ9", "ENSEMBL:ENSP00000405176", "ENSEMBL:ENSP00000405176.2", "ENSEMBL:ENSP00000482581", "ENSEMBL:ENSP00000482581.1", "ENSEMBL:ENSP00000500440", "ENSEMBL:ENSP00000500440.1", "ENSEMBL:ENSP00000500609", "ENSEMBL:ENSP00000500609.1", "ENSEMBL:ENSP00000518373", "ENSEMBL:ENSP00000518373.1", "ENSEMBL:ENSP00000518374", "ENSEMBL:ENSP00000518374.1", "UMLS:C1435014", "MESH:C486274"], "information_content": 95.4}
{"id": "UniProtKB:Q86XA0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "histone-arginine methyltransferase METTL23 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86XA0-1", "PR:Q86XA0-1", "ENSEMBL:ENSP00000341543", "ENSEMBL:ENSP00000341543.5", "ENSEMBL:ENSP00000482599", "ENSEMBL:ENSP00000482599.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96JZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hematopoietic SH2 domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JZ2-1", "PR:Q96JZ2-1", "ENSEMBL:ENSP00000482604", "ENSEMBL:ENSP00000482604.1", "ENSEMBL:ENSP00000483354", "ENSEMBL:ENSP00000483354.1"], "information_content": 100.0}
{"id": "NCBIGene:79692", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF322", "equivalent_identifiers": ["NCBIGene:79692", "ENSEMBL:ENSG00000181315", "HGNC:23640", "OMIM:610847", "UMLS:C1428177", "UniProtKB:Q6U7Q0", "PR:Q6U7Q0", "ENSEMBL:ENSP00000418897", "ENSEMBL:ENSP00000418897.1", "ENSEMBL:ENSP00000419728", "ENSEMBL:ENSP00000419728.1", "ENSEMBL:ENSP00000478899", "ENSEMBL:ENSP00000478899.1", "ENSEMBL:ENSP00000482607", "ENSEMBL:ENSP00000482607.1", "ENSEMBL:ENSP00000483223", "ENSEMBL:ENSP00000483223.1", "UMLS:C4548231", "MESH:C000624198"], "information_content": 100.0}
{"id": "NCBIGene:9324", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HMGN3", "equivalent_identifiers": ["NCBIGene:9324", "ENSEMBL:ENSG00000118418", "HGNC:12312", "OMIM:604502", "UMLS:C1333914", "UniProtKB:A0A087WZE9", "ENSEMBL:ENSP00000482613", "ENSEMBL:ENSP00000482613.1", "UniProtKB:A0A994J3W4", "ENSEMBL:ENSP00000515488", "ENSEMBL:ENSP00000515488.1", "UniProtKB:A0A9L9PXC9", "ENSEMBL:ENSP00000516483", "ENSEMBL:ENSP00000516483.1", "UniProtKB:Q15651", "PR:Q15651", "UMLS:C1333915", "MESH:C543894"]}
{"id": "UniProtKB:Q86YS3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rab11 family-interacting protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86YS3-1", "PR:Q86YS3-1", "ENSEMBL:ENSP00000482620", "ENSEMBL:ENSP00000482620.1"], "information_content": 100.0}
{"id": "NCBIGene:729877", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBC1D3H", "equivalent_identifiers": ["NCBIGene:729877", "ENSEMBL:ENSG00000274226", "HGNC:30708", "OMIM:610811", "UMLS:C1823237", "UniProtKB:P0C7X1", "PR:P0C7X1", "ENSEMBL:ENSP00000481632", "ENSEMBL:ENSP00000481632.1", "ENSEMBL:ENSP00000482630", "ENSEMBL:ENSP00000482630.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96CX3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 501 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96CX3-1", "PR:Q96CX3-1", "ENSEMBL:ENSP00000379363", "ENSEMBL:ENSP00000379363.2", "ENSEMBL:ENSP00000482632", "ENSEMBL:ENSP00000482632.1", "ENSEMBL:ENSP00000485862", "ENSEMBL:ENSP00000485862.1", "ENSEMBL:ENSP00000487032", "ENSEMBL:ENSP00000487032.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99735-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "microsomal glutathione S-transferase 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99735-1", "PR:Q99735-1", "ENSEMBL:ENSP00000265498", "ENSEMBL:ENSP00000265498.1", "ENSEMBL:ENSP00000423008", "ENSEMBL:ENSP00000423008.1", "ENSEMBL:ENSP00000482639", "ENSEMBL:ENSP00000482639.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZSZ5-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 18 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZSZ5-2", "PR:Q6ZSZ5-2", "ENSEMBL:ENSP00000470729", "ENSEMBL:ENSP00000470729.2", "ENSEMBL:ENSP00000482647", "ENSEMBL:ENSP00000482647.4"], "information_content": 100.0}
{"id": "NCBIGene:9020", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAP3K14", "equivalent_identifiers": ["NCBIGene:9020", "ENSEMBL:ENSG00000006062", "HGNC:6853", "OMIM:604655", "UMLS:C1367673", "UniProtKB:Q99558", "PR:Q99558", "ENSEMBL:ENSP00000478552", "ENSEMBL:ENSP00000478552.1", "ENSEMBL:ENSP00000480974", "ENSEMBL:ENSP00000480974.3", "ENSEMBL:ENSP00000482657", "ENSEMBL:ENSP00000482657.1", "UMLS:C1335946"], "information_content": 87.2}
{"id": "NCBIGene:3018", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BC3", "equivalent_identifiers": ["NCBIGene:3018", "ENSEMBL:ENSG00000276410", "HGNC:4751", "OMIM:602803", "UMLS:C5202832", "UniProtKB:P33778", "PR:P33778", "ENSEMBL:ENSP00000482674", "ENSEMBL:ENSP00000482674.2", "ENSEMBL:ENSP00000520861", "ENSEMBL:ENSP00000520861.1", "UMLS:C5202686", "UMLS:C5564734", "MESH:C000719947"], "information_content": 82.6}
{"id": "UniProtKB:Q6UWP2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dehydrogenase/reductase SDR family member 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UWP2-1", "PR:Q6UWP2-1", "ENSEMBL:ENSP00000482704", "ENSEMBL:ENSP00000482704.1", "ENSEMBL:ENSP00000483747", "ENSEMBL:ENSP00000483747.1"], "information_content": 100.0}
{"id": "NCBIGene:5780", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTPN9", "equivalent_identifiers": ["NCBIGene:5780", "ENSEMBL:ENSG00000169410", "HGNC:9661", "OMIM:600768", "UMLS:C1419109", "UniProtKB:P43378", "PR:P43378", "ENSEMBL:ENSP00000482732", "ENSEMBL:ENSP00000482732.1", "UMLS:C1120498", "MESH:C447615", "UniProtKB:Q6IQ43"], "information_content": 95.4}
{"id": "NCBIGene:64499", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TPSB2", "equivalent_identifiers": ["NCBIGene:64499", "ENSEMBL:ENSG00000197253", "HGNC:14120", "OMIM:191081", "UMLS:C1422417", "UniProtKB:A0A140VJT7", "UniProtKB:P20231", "PR:P20231", "ENSEMBL:ENSP00000482743", "ENSEMBL:ENSP00000482743.1", "UMLS:C4084825"], "information_content": 95.4}
{"id": "UniProtKB:Q96LT7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide exchange factor C9orf72 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LT7-1", "PR:Q96LT7-1", "ENSEMBL:ENSP00000369339", "ENSEMBL:ENSP00000369339.3", "ENSEMBL:ENSP00000482753", "ENSEMBL:ENSP00000482753.1"], "information_content": 100.0}
{"id": "UniProtKB:P29122-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proprotein convertase subtilisin/kexin type 6 isoform hPACE4A-I (human)", "equivalent_identifiers": ["UniProtKB:P29122-1", "PR:P29122-1", "ENSEMBL:ENSP00000482760", "ENSEMBL:ENSP00000482760.1"], "information_content": 100.0}
{"id": "NCBIGene:3420", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IDH3B", "equivalent_identifiers": ["NCBIGene:3420", "ENSEMBL:ENSG00000101365", "HGNC:5385", "OMIM:604526", "UMLS:C1415879", "UniProtKB:A0A087WZN1", "ENSEMBL:ENSP00000482773", "ENSEMBL:ENSP00000482773.1", "UniProtKB:A0A087X2E5", "ENSEMBL:ENSP00000484922", "ENSEMBL:ENSP00000484922.1", "UniProtKB:O43837", "PR:O43837"]}
{"id": "MONDO:0016222", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spindle cell hemangioma", "equivalent_identifiers": ["MONDO:0016222", "DOID:496", "orphanet:210584", "UMLS:C1304508", "NCIT:C4754", "SNOMEDCT:128769003", "SNOMEDCT:403967000", "medgen:224916"], "information_content": 100.0}
{"id": "NCBIGene:348751", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FTCDNL1", "equivalent_identifiers": ["NCBIGene:348751", "ENSEMBL:ENSG00000226124", "HGNC:48661", "OMIM:614308", "UMLS:C3280437", "UniProtKB:E5RQL4", "PR:E5RQL4", "ENSEMBL:ENSP00000482786", "ENSEMBL:ENSP00000482786.1", "UniProtKB:H3BMM2", "ENSEMBL:ENSP00000454447", "ENSEMBL:ENSP00000454447.1", "UniProtKB:H3BRX2", "ENSEMBL:ENSP00000456442", "ENSEMBL:ENSP00000456442.1", "ENSEMBL:ENSP00000515385", "ENSEMBL:ENSP00000515385.1", "UniProtKB:H3BUS8", "ENSEMBL:ENSP00000457780", "ENSEMBL:ENSP00000457780.1"], "information_content": 95.4}
{"id": "UniProtKB:Q7Z6M3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "allergin-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z6M3-1", "PR:Q7Z6M3-1", "ENSEMBL:ENSP00000480749", "ENSEMBL:ENSP00000480749.1", "ENSEMBL:ENSP00000482801", "ENSEMBL:ENSP00000482801.1", "ENSEMBL:ENSP00000520795", "ENSEMBL:ENSP00000520795.1", "ENSEMBL:ENSP00000520797", "ENSEMBL:ENSP00000520797.1", "ENSEMBL:ENSP00000520798", "ENSEMBL:ENSP00000520798.1"], "information_content": 100.0}
{"id": "NCBIGene:79175", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF343", "equivalent_identifiers": ["NCBIGene:79175", "ENSEMBL:ENSG00000088876", "HGNC:16017", "UMLS:C1423912", "UniProtKB:A0A087WZQ2", "ENSEMBL:ENSP00000482819", "ENSEMBL:ENSP00000482819.1", "UniProtKB:Q6P1L6", "PR:Q6P1L6"]}
{"id": "MONDO:0004321", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "endometrial mixed adenocarcinoma", "equivalent_identifiers": ["MONDO:0004321", "DOID:7664", "UMLS:C4745252", "NCIT:C40153", "medgen:1670192", "icd11.foundation:575106861"], "information_content": 90.9}
{"id": "NCBIGene:63908", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NAPB", "equivalent_identifiers": ["NCBIGene:63908", "ENSEMBL:ENSG00000125814", "HGNC:15751", "OMIM:611270", "UMLS:C1423703", "UniProtKB:A0A087WZQ7", "ENSEMBL:ENSP00000482826", "ENSEMBL:ENSP00000482826.1", "UniProtKB:Q9H115", "PR:Q9H115", "UMLS:C5891050"]}
{"id": "NCBIGene:1382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRABP2", "equivalent_identifiers": ["NCBIGene:1382", "ENSEMBL:ENSG00000143320", "HGNC:2339", "OMIM:180231", "UMLS:C1413698", "UniProtKB:P29373", "PR:P29373", "ENSEMBL:ENSP00000357204", "ENSEMBL:ENSP00000357204.1", "ENSEMBL:ENSP00000357205", "ENSEMBL:ENSP00000357205.3", "ENSEMBL:ENSP00000482841", "ENSEMBL:ENSP00000482841.1", "UMLS:C2003242", "UMLS:C3538961"], "information_content": 90.9}
{"id": "UniProtKB:Q14183-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "double C2-like domain-containing protein alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14183-1", "PR:Q14183-1", "ENSEMBL:ENSP00000340017", "ENSEMBL:ENSP00000340017.4", "ENSEMBL:ENSP00000455196", "ENSEMBL:ENSP00000455196.1", "ENSEMBL:ENSP00000455624", "ENSEMBL:ENSP00000455624.1", "ENSEMBL:ENSP00000482870", "ENSEMBL:ENSP00000482870.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXH9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "inactive serine protease PAMR1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXH9-2", "PR:Q6UXH9-2", "ENSEMBL:ENSP00000482899", "ENSEMBL:ENSP00000482899.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A087WZV9", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A087WZV9_HUMAN D-aminoacyl-tRNA deacylase (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A087WZV9", "ENSEMBL:ENSP00000482916", "ENSEMBL:ENSP00000482916.1"]}
{"id": "NCBIGene:8447", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DOC2B", "equivalent_identifiers": ["NCBIGene:8447", "ENSEMBL:ENSG00000272636", "HGNC:2986", "OMIM:604568", "UMLS:C1414127", "UniProtKB:Q14184", "PR:Q14184", "ENSEMBL:ENSP00000482950", "ENSEMBL:ENSP00000482950.1", "UMLS:C1454206", "MESH:C490420"], "information_content": 95.4}
{"id": "UniProtKB:P16471-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "prolactin receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P16471-1", "PR:P16471-1", "ENSEMBL:ENSP00000482954", "ENSEMBL:ENSP00000482954.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TCU4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "centrosome-associated protein ALMS1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TCU4-1", "PR:Q8TCU4-1", "ENSEMBL:ENSP00000482968", "ENSEMBL:ENSP00000482968.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y3C1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolar protein 16 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3C1-3", "PR:Q9Y3C1-3", "ENSEMBL:ENSP00000483001", "ENSEMBL:ENSP00000483001.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96A61-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase TRIM52 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96A61-1", "PR:Q96A61-1", "ENSEMBL:ENSP00000483005", "ENSEMBL:ENSP00000483005.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A087X009", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A087X009_HUMAN ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase (trembl)", "equivalent_identifiers": ["UniProtKB:A0A087X009", "ENSEMBL:ENSP00000483018", "ENSEMBL:ENSP00000483018.1"]}
{"id": "NCBIGene:66035", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC2A11", "equivalent_identifiers": ["NCBIGene:66035", "ENSEMBL:ENSG00000133460", "HGNC:14239", "OMIM:610367", "UMLS:C1422501", "UniProtKB:A0A087X018", "ENSEMBL:ENSP00000479754", "ENSEMBL:ENSP00000479754.1", "ENSEMBL:ENSP00000483038", "ENSEMBL:ENSP00000483038.1", "UMLS:C1571562", "MESH:C439386", "UniProtKB:B7Z6F0", "UniProtKB:Q6PJ99", "UniProtKB:Q9BYW1", "PR:Q9BYW1"]}
{"id": "UniProtKB:P49116-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nuclear receptor subfamily 2 group C member 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P49116-2", "PR:P49116-2", "ENSEMBL:ENSP00000320447", "ENSEMBL:ENSP00000320447.6", "ENSEMBL:ENSP00000483059", "ENSEMBL:ENSP00000483059.1"], "information_content": 100.0}
{"id": "UniProtKB:A0JP26-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POTE ankyrin domain family member B3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A0JP26-1", "PR:A0JP26-1", "ENSEMBL:ENSP00000483103", "ENSEMBL:ENSP00000483103.1"], "information_content": 100.0}
{"id": "MONDO:0013175", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 50", "equivalent_identifiers": ["MONDO:0013175", "DOID:0110396", "OMIM:613194", "UMLS:C2750789", "MESH:C567712", "medgen:442563"], "information_content": 100.0}
{"id": "NCBIGene:353238", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PADI6", "equivalent_identifiers": ["NCBIGene:353238", "ENSEMBL:ENSG00000276747", "HGNC:20449", "OMIM:610363", "UMLS:C1426944", "UniProtKB:Q6TGC4", "PR:Q6TGC4", "ENSEMBL:ENSP00000483125", "ENSEMBL:ENSP00000483125.1", "ENSEMBL:ENSP00000485805", "ENSEMBL:ENSP00000485805.1", "UMLS:C1454915", "MESH:C488263"], "information_content": 95.4}
{"id": "UniProtKB:Q8N9W8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi-associated RAB2 interactor protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N9W8-1", "PR:Q8N9W8-1", "ENSEMBL:ENSP00000483154", "ENSEMBL:ENSP00000483154.1"], "information_content": 100.0}
{"id": "UniProtKB:P63010-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-2 complex subunit beta isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P63010-2", "PR:P63010-2", "ENSEMBL:ENSP00000482835", "ENSEMBL:ENSP00000482835.1", "ENSEMBL:ENSP00000483185", "ENSEMBL:ENSP00000483185.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5MIZ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein phosphatase 4 regulatory subunit 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5MIZ7-1", "PR:Q5MIZ7-1", "ENSEMBL:ENSP00000483228", "ENSEMBL:ENSP00000483228.1"], "information_content": 100.0}
{"id": "UniProtKB:P61962-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DDB1- and CUL4-associated factor 7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P61962-1", "PR:P61962-1", "ENSEMBL:ENSP00000402312", "ENSEMBL:ENSP00000402312.2", "ENSEMBL:ENSP00000483236", "ENSEMBL:ENSP00000483236.1", "ENSEMBL:ENSP00000508930", "ENSEMBL:ENSP00000508930.1", "ENSEMBL:ENSP00000509006", "ENSEMBL:ENSP00000509006.1"], "information_content": 100.0}
{"id": "NCBIGene:390538", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4M2", "equivalent_identifiers": ["NCBIGene:390538", "ENSEMBL:ENSG00000274102", "HGNC:15373", "UMLS:C1423450", "UniProtKB:Q8NGB6", "PR:Q8NGB6", "ENSEMBL:ENSP00000483239", "ENSEMBL:ENSP00000483239.1"], "information_content": 95.4}
{"id": "UniProtKB:Q96A25-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 106A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96A25-1", "PR:Q96A25-1", "ENSEMBL:ENSP00000466820", "ENSEMBL:ENSP00000466820.1", "ENSEMBL:ENSP00000483246", "ENSEMBL:ENSP00000483246.1"], "information_content": 100.0}
{"id": "UniProtKB:O14979-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein D-like isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14979-1", "PR:O14979-1", "ENSEMBL:ENSP00000295470", "ENSEMBL:ENSP00000295470.5", "ENSEMBL:ENSP00000422040", "ENSEMBL:ENSP00000422040.1", "ENSEMBL:ENSP00000483254", "ENSEMBL:ENSP00000483254.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H0R3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transmembrane protein 222 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H0R3-1", "PR:Q9H0R3-1", "ENSEMBL:ENSP00000363189", "ENSEMBL:ENSP00000363189.4", "ENSEMBL:ENSP00000483276", "ENSEMBL:ENSP00000483276.1"], "information_content": 100.0}
{"id": "MONDO:0020550", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "gestational choriocarcinoma", "equivalent_identifiers": ["MONDO:0020550", "DOID:2025", "orphanet:99926", "UMLS:C0349557", "NCIT:C4646", "SNOMEDCT:417057000", "SNOMEDCT:417570003", "medgen:138102", "icd11.foundation:2136066651"], "information_content": 89.4}
{"id": "UniProtKB:Q13085-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetyl-CoA carboxylase 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q13085-4", "PR:Q13085-4", "ENSEMBL:ENSP00000478577", "ENSEMBL:ENSP00000478577.1", "ENSEMBL:ENSP00000483300", "ENSEMBL:ENSP00000483300.1"], "information_content": 100.0}
{"id": "NCBIGene:401551", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WDR38", "equivalent_identifiers": ["NCBIGene:401551", "ENSEMBL:ENSG00000136918", "HGNC:23745", "UMLS:C2240175", "UniProtKB:A0A087X0D8", "ENSEMBL:ENSP00000483312", "ENSEMBL:ENSP00000483312.1", "UniProtKB:A0A087X0J1", "ENSEMBL:ENSP00000483432", "ENSEMBL:ENSP00000483432.1", "UniProtKB:B7ZW23", "UniProtKB:B7ZW24", "UniProtKB:B9EK65", "UniProtKB:Q5JTN6", "PR:Q5JTN6", "ENSEMBL:ENSP00000362677", "ENSEMBL:ENSP00000362677.1"]}
{"id": "MONDO:0017768", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "reflex epilepsy", "equivalent_identifiers": ["MONDO:0017768", "DOID:2548", "orphanet:310", "EFO:1001146", "UMLS:C0270857", "MESH:D020195", "NCIT:C85041", "SNOMEDCT:79745005", "medgen:75726", "icd11.foundation:276807111"], "information_content": 79.9}
{"id": "UniProtKB:Q9Y6W5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "actin-binding protein WASF2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6W5-1", "PR:Q9Y6W5-1", "ENSEMBL:ENSP00000483313", "ENSEMBL:ENSP00000483313.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHW4-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-C motif chemokine 4-like isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHW4-4", "PR:Q8NHW4-4", "ENSEMBL:ENSP00000483330", "ENSEMBL:ENSP00000483330.1", "ENSEMBL:ENSP00000488439", "ENSEMBL:ENSP00000488439.1", "ENSEMBL:ENSP00000488719", "ENSEMBL:ENSP00000488719.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z4V5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hepatoma-derived growth factor-related protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z4V5-1", "PR:Q7Z4V5-1", "ENSEMBL:ENSP00000483345", "ENSEMBL:ENSP00000483345.1"], "information_content": 100.0}
{"id": "NCBIGene:26150", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RIBC2", "equivalent_identifiers": ["NCBIGene:26150", "ENSEMBL:ENSG00000128408", "HGNC:13241", "OMIM:621115", "UMLS:C1538840", "UniProtKB:Q9H4K1", "PR:Q9H4K1", "ENSEMBL:ENSP00000483356", "ENSEMBL:ENSP00000483356.1"], "information_content": 95.4}
{"id": "NCBIGene:26123", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TCTN3", "equivalent_identifiers": ["NCBIGene:26123", "ENSEMBL:ENSG00000119977", "HGNC:24519", "OMIM:613847", "UMLS:C1538392", "UniProtKB:A0A7P0TB57", "ENSEMBL:ENSP00000506398", "ENSEMBL:ENSP00000506398.1", "UniProtKB:A0A804G9W2", "ENSEMBL:ENSP00000483364", "ENSEMBL:ENSP00000483364.2", "UMLS:C3502130", "MESH:C575748", "UniProtKB:Q6NUS6", "PR:Q6NUS6"]}
{"id": "UniProtKB:Q14376-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "UDP-glucose 4-epimerase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14376-1", "PR:Q14376-1", "ENSEMBL:ENSP00000363621", "ENSEMBL:ENSP00000363621.3", "ENSEMBL:ENSP00000483375", "ENSEMBL:ENSP00000483375.1"], "information_content": 100.0}
{"id": "NCBIGene:85376", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RIMBP3", "equivalent_identifiers": ["NCBIGene:85376", "ENSEMBL:ENSG00000275793", "HGNC:29344", "OMIM:612699", "UMLS:C2239888", "UniProtKB:Q9UFD9", "PR:Q9UFD9", "ENSEMBL:ENSP00000483386", "ENSEMBL:ENSP00000483386.1", "UMLS:C2000679", "MESH:C524445"], "information_content": 95.4}
{"id": "NCBIGene:2690", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GHR", "equivalent_identifiers": ["NCBIGene:2690", "ENSEMBL:ENSG00000112964", "HGNC:4263", "OMIM:600946", "UMLS:C1415063", "UniProtKB:A0A087X0H5", "ENSEMBL:ENSP00000483403", "ENSEMBL:ENSP00000483403.1", "UniProtKB:A0A087X162", "ENSEMBL:ENSP00000483926", "ENSEMBL:ENSP00000483926.1", "UniProtKB:P10912", "PR:P10912", "UMLS:C0122592"]}
{"id": "NCBIGene:64062", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RBM26", "equivalent_identifiers": ["NCBIGene:64062", "ENSEMBL:ENSG00000139746", "HGNC:20327", "OMIM:620081", "UMLS:C1826776", "UniProtKB:A0A087X0H9", "ENSEMBL:ENSP00000483408", "ENSEMBL:ENSP00000483408.1", "UMLS:C5433819", "MESH:C000709196", "UniProtKB:Q5T8P6", "PR:Q5T8P6"]}
{"id": "MONDO:0011877", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant osteopetrosis 1", "equivalent_identifiers": ["MONDO:0011877", "DOID:0110937", "OMIM:607634", "orphanet:2783", "UMLS:C1843330", "MESH:C536056", "SNOMEDCT:1264041000", "medgen:335932"], "information_content": 100.0}
{"id": "NCBIGene:4139", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MARK1", "equivalent_identifiers": ["NCBIGene:4139", "ENSEMBL:ENSG00000116141", "HGNC:6896", "OMIM:606511", "UMLS:C1417033", "UniProtKB:A0A087X0I6", "ENSEMBL:ENSP00000483424", "ENSEMBL:ENSP00000483424.1", "UniProtKB:B4DIB3", "ENSEMBL:ENSP00000386017", "ENSEMBL:ENSP00000386017.2", "UniProtKB:Q9P0L2", "PR:Q9P0L2", "UMLS:C1430753", "MESH:C105547", "UniProtKB:X5D2M4"]}
{"id": "UniProtKB:P40305-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon alpha-inducible protein 27, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P40305-2", "PR:P40305-2", "ENSEMBL:ENSP00000477753", "ENSEMBL:ENSP00000477753.1", "ENSEMBL:ENSP00000483430", "ENSEMBL:ENSP00000483430.1", "ENSEMBL:ENSP00000483498", "ENSEMBL:ENSP00000483498.1", "ENSEMBL:ENSP00000483932", "ENSEMBL:ENSP00000483932.1", "ENSEMBL:ENSP00000484089", "ENSEMBL:ENSP00000484089.1", "ENSEMBL:ENSP00000486608", "ENSEMBL:ENSP00000486608.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UMZ2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synergin gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMZ2-1", "PR:Q9UMZ2-1", "ENSEMBL:ENSP00000480288", "ENSEMBL:ENSP00000480288.1", "ENSEMBL:ENSP00000483453", "ENSEMBL:ENSP00000483453.1"], "information_content": 100.0}
{"id": "NCBIGene:440435", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR179", "equivalent_identifiers": ["NCBIGene:440435", "ENSEMBL:ENSG00000277399", "HGNC:31371", "OMIM:614515", "UMLS:C1825411", "UniProtKB:A0A087X0K8", "ENSEMBL:ENSP00000483469", "ENSEMBL:ENSP00000483469.2", "UMLS:C5882245", "MESH:C000729712", "UniProtKB:Q6PRD1", "PR:Q6PRD1", "ENSEMBL:ENSP00000484951", "ENSEMBL:ENSP00000484951.1"]}
{"id": "MONDO:0014431", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "LIPE-related familial partial lipodystrophy", "equivalent_identifiers": ["MONDO:0014431", "DOID:0070206", "OMIM:615980", "orphanet:435660", "UMLS:C4014869", "SNOMEDCT:1197751007", "medgen:863306"], "information_content": 100.0}
{"id": "NCBIGene:10412", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NSA2", "equivalent_identifiers": ["NCBIGene:10412", "ENSEMBL:ENSG00000164346", "HGNC:30728", "OMIM:612497", "UMLS:C2675889", "UniProtKB:A0A0A0MQZ6", "ENSEMBL:ENSP00000296802", "ENSEMBL:ENSP00000296802.6", "UMLS:C2932363", "MESH:C547685", "UniProtKB:O95478", "PR:O95478", "ENSEMBL:ENSP00000483484", "ENSEMBL:ENSP00000483484.1", "UniProtKB:Q5J7U2"], "information_content": 95.4}
{"id": "UniProtKB:Q9BV86-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N-terminal Xaa-Pro-Lys N-methyltransferase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BV86-1", "PR:Q9BV86-1", "ENSEMBL:ENSP00000361558", "ENSEMBL:ENSP00000361558.1", "ENSEMBL:ENSP00000361561", "ENSEMBL:ENSP00000361561.4", "ENSEMBL:ENSP00000361564", "ENSEMBL:ENSP00000361564.1", "ENSEMBL:ENSP00000478521", "ENSEMBL:ENSP00000478521.1", "ENSEMBL:ENSP00000483489", "ENSEMBL:ENSP00000483489.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z5L2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein R3HCC1L isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z5L2-1", "PR:Q7Z5L2-1", "ENSEMBL:ENSP00000483494", "ENSEMBL:ENSP00000483494.1"], "information_content": 100.0}
{"id": "MONDO:0000231", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Far eastern spotted fever", "equivalent_identifiers": ["MONDO:0000231", "DOID:0050046", "UMLS:C3532354", "SNOMEDCT:472822008", "medgen:759467"], "information_content": 100.0}
{"id": "NCBIGene:54741", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LEPROT", "equivalent_identifiers": ["NCBIGene:54741", "ENSEMBL:ENSG00000213625", "HGNC:29477", "OMIM:613461", "UMLS:C1537565", "UniProtKB:A0A087X0N2", "ENSEMBL:ENSP00000483521", "ENSEMBL:ENSP00000483521.1", "UMLS:C1430905", "MESH:C107590", "UniProtKB:O15243", "PR:O15243", "ENSEMBL:ENSP00000360104", "ENSEMBL:ENSP00000360104.4"]}
{"id": "NCBIGene:140688", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOL4L", "equivalent_identifiers": ["NCBIGene:140688", "ENSEMBL:ENSG00000197183", "HGNC:16106", "OMIM:618893", "UMLS:C1423987", "UniProtKB:A0A087X0N3", "ENSEMBL:ENSP00000483523", "ENSEMBL:ENSP00000483523.1", "UMLS:C2975193", "MESH:C552064", "UniProtKB:Q96MY1", "PR:Q96MY1"]}
{"id": "UniProtKB:Q8NCR3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein MFI isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCR3-1", "PR:Q8NCR3-1", "ENSEMBL:ENSP00000376799", "ENSEMBL:ENSP00000376799.1", "ENSEMBL:ENSP00000431706", "ENSEMBL:ENSP00000431706.1", "ENSEMBL:ENSP00000436400", "ENSEMBL:ENSP00000436400.1", "ENSEMBL:ENSP00000483537", "ENSEMBL:ENSP00000483537.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NG50-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RAD52 motif-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NG50-1", "PR:Q8NG50-1", "ENSEMBL:ENSP00000481061", "ENSEMBL:ENSP00000481061.1", "ENSEMBL:ENSP00000483549", "ENSEMBL:ENSP00000483549.1"], "information_content": 100.0}
{"id": "NCBIGene:5045", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FURIN", "equivalent_identifiers": ["NCBIGene:5045", "ENSEMBL:ENSG00000140564", "HGNC:8568", "OMIM:136950", "UMLS:C0919550", "UniProtKB:P09958", "PR:P09958", "ENSEMBL:ENSP00000268171", "ENSEMBL:ENSP00000268171.2", "ENSEMBL:ENSP00000483552", "ENSEMBL:ENSP00000483552.1", "ENSEMBL:ENSP00000484952", "ENSEMBL:ENSP00000484952.1", "ENSEMBL:ENSP00000506143", "ENSEMBL:ENSP00000506143.1", "UMLS:C1310542", "MESH:C468731"], "information_content": 84.2}
{"id": "UniProtKB:Q9Y467-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Sal-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y467-1", "PR:Q9Y467-1", "ENSEMBL:ENSP00000483562", "ENSEMBL:ENSP00000483562.1"], "information_content": 100.0}
{"id": "UniProtKB:Q06187-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein kinase BTK isoform BTK-C (human)", "equivalent_identifiers": ["UniProtKB:Q06187-2", "PR:Q06187-2", "ENSEMBL:ENSP00000483570", "ENSEMBL:ENSP00000483570.1"], "information_content": 100.0}
{"id": "NCBIGene:10417", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPON2", "equivalent_identifiers": ["NCBIGene:10417", "ENSEMBL:ENSG00000159674", "HGNC:11253", "OMIM:605918", "UMLS:C1420367", "UniProtKB:Q9BUD6", "PR:Q9BUD6", "ENSEMBL:ENSP00000290902", "ENSEMBL:ENSP00000290902.5", "ENSEMBL:ENSP00000394832", "ENSEMBL:ENSP00000394832.1", "ENSEMBL:ENSP00000483599", "ENSEMBL:ENSP00000483599.1", "UMLS:C1309269", "MESH:C122166"], "information_content": 84.2}
{"id": "UniProtKB:Q5DJT8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CT452_HUMAN Cancer/testis antigen family 45 member A2 (sprot)", "equivalent_identifiers": ["UniProtKB:Q5DJT8", "PR:Q5DJT8", "ENSEMBL:ENSP00000474632", "ENSEMBL:ENSP00000474632.2", "ENSEMBL:ENSP00000483619", "ENSEMBL:ENSP00000483619.1", "UMLS:C4284122"], "information_content": 100.0}
{"id": "UniProtKB:O75952-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-binding tyrosine phosphorylation-regulated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75952-1", "PR:O75952-1", "ENSEMBL:ENSP00000431142", "ENSEMBL:ENSP00000431142.3", "ENSEMBL:ENSP00000432870", "ENSEMBL:ENSP00000432870.1", "ENSEMBL:ENSP00000483621", "ENSEMBL:ENSP00000483621.1"], "information_content": 100.0}
{"id": "NCBIGene:389856", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "USP27X", "equivalent_identifiers": ["NCBIGene:389856", "ENSEMBL:ENSG00000273820", "HGNC:13486", "OMIM:300975", "UMLS:C1422016", "UniProtKB:A6NNY8", "PR:A6NNY8", "ENSEMBL:ENSP00000483631", "ENSEMBL:ENSP00000483631.1", "UMLS:C5196765", "MESH:C000630032"], "information_content": 95.4}
{"id": "UniProtKB:O14646-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromodomain-helicase-DNA-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14646-1", "PR:O14646-1", "ENSEMBL:ENSP00000483667", "ENSEMBL:ENSP00000483667.1"], "information_content": 100.0}
{"id": "NCBIGene:440243", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GOLGA6L22", "equivalent_identifiers": ["NCBIGene:440243", "ENSEMBL:ENSG00000277865", "HGNC:50289", "UMLS:C3811015", "UniProtKB:H0YM25", "PR:H0YM25", "ENSEMBL:ENSP00000483673", "ENSEMBL:ENSP00000483673.2"], "information_content": 100.0}
{"id": "NCBIGene:5691", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMB3", "equivalent_identifiers": ["NCBIGene:5691", "ENSEMBL:ENSG00000277791", "HGNC:9540", "OMIM:602176", "UMLS:C1419013", "UniProtKB:A0A384NL22", "UniProtKB:P49720", "PR:P49720", "ENSEMBL:ENSP00000483688", "ENSEMBL:ENSP00000483688.1", "ENSEMBL:ENSP00000483956", "ENSEMBL:ENSP00000483956.1"], "information_content": 87.2}
{"id": "UniProtKB:Q9NZS2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "killer cell lectin-like receptor subfamily F member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZS2-1", "PR:Q9NZS2-1", "ENSEMBL:ENSP00000483713", "ENSEMBL:ENSP00000483713.1"], "information_content": 100.0}
{"id": "NCBIGene:51427", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF107", "equivalent_identifiers": ["NCBIGene:51427", "ENSEMBL:ENSG00000196247", "HGNC:12887", "OMIM:603989", "UMLS:C1421595", "UniProtKB:A0A087WYK5", "ENSEMBL:ENSP00000481898", "ENSEMBL:ENSP00000481898.1", "UMLS:C1309397", "MESH:C404507", "UniProtKB:A0A0B4J2G0", "ENSEMBL:ENSP00000483720", "ENSEMBL:ENSP00000483720.1", "UniProtKB:Q8WVL4", "UniProtKB:Q9UII5", "PR:Q9UII5", "ENSEMBL:ENSP00000343443", "ENSEMBL:ENSP00000343443.3", "ENSEMBL:ENSP00000400037", "ENSEMBL:ENSP00000400037.1"]}
{"id": "UniProtKB:P59103-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "D-amino acid oxidase regulator isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P59103-1", "PR:P59103-1", "ENSEMBL:ENSP00000365103", "ENSEMBL:ENSP00000365103.3", "ENSEMBL:ENSP00000483757", "ENSEMBL:ENSP00000483757.1"], "information_content": 100.0}
{"id": "NCBIGene:284106", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CISD3", "equivalent_identifiers": ["NCBIGene:284106", "ENSEMBL:ENSG00000277972", "HGNC:27578", "OMIM:611933", "UMLS:C2239301", "UniProtKB:P0C7P0", "PR:P0C7P0", "ENSEMBL:ENSP00000483781", "ENSEMBL:ENSP00000483781.1", "ENSEMBL:ENSP00000484950", "ENSEMBL:ENSP00000484950.1", "UMLS:C4507624", "MESH:C000620502"], "information_content": 95.4}
{"id": "NCBIGene:3241", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HPCAL1", "equivalent_identifiers": ["NCBIGene:3241", "ENSEMBL:ENSG00000115756", "HGNC:5145", "OMIM:600207", "UMLS:C1415694", "UniProtKB:O75544", "UMLS:C1957521", "MESH:C520235", "UniProtKB:P37235", "PR:P37235", "ENSEMBL:ENSP00000310749", "ENSEMBL:ENSP00000310749.3", "ENSEMBL:ENSP00000371184", "ENSEMBL:ENSP00000371184.3", "ENSEMBL:ENSP00000478231", "ENSEMBL:ENSP00000478231.1", "ENSEMBL:ENSP00000482993", "ENSEMBL:ENSP00000482993.1", "ENSEMBL:ENSP00000483786", "ENSEMBL:ENSP00000483786.1", "UniProtKB:Q6FGY1"], "information_content": 80.9}
{"id": "UniProtKB:Q9Y6K9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NF-kappa-B essential modulator isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6K9-2", "PR:Q9Y6K9-2", "ENSEMBL:ENSP00000483825", "ENSEMBL:ENSP00000483825.1"], "information_content": 100.0}
{"id": "NCBIGene:340348", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPAN33", "equivalent_identifiers": ["NCBIGene:340348", "ENSEMBL:ENSG00000158457", "HGNC:28743", "OMIM:610120", "UMLS:C1823520", "UniProtKB:Q86UF1", "PR:Q86UF1", "ENSEMBL:ENSP00000483872", "ENSEMBL:ENSP00000483872.1", "UMLS:C1657755", "MESH:C505521"], "information_content": 95.4}
{"id": "UniProtKB:Q6UX68-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "XK-related protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UX68-1", "PR:Q6UX68-1", "ENSEMBL:ENSP00000483879", "ENSEMBL:ENSP00000483879.1"], "information_content": 100.0}
{"id": "MONDO:0020334", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mast cell leukemia", "equivalent_identifiers": ["MONDO:0020334", "DOID:9254", "orphanet:98851", "EFO:0007359", "UMLS:C0023461", "MESH:D007946", "MEDDRA:10056450", "MEDDRA:10056451", "MEDDRA:10086961", "MEDDRA:10086963", "NCIT:C3169", "SNOMEDCT:110002002", "SNOMEDCT:128924002", "medgen:44123", "icd11.foundation:1359806843", "ICD10:C94.3"], "information_content": 90.9}
{"id": "UniProtKB:O75438-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O75438-2", "PR:O75438-2", "ENSEMBL:ENSP00000483888", "ENSEMBL:ENSP00000483888.1"], "information_content": 100.0}
{"id": "NCBIGene:8341", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BC15", "equivalent_identifiers": ["NCBIGene:8341", "ENSEMBL:ENSG00000233822", "HGNC:4749", "OMIM:602801", "UMLS:C5202825", "UniProtKB:Q99877", "PR:Q99877", "ENSEMBL:ENSP00000446031", "ENSEMBL:ENSP00000446031.1", "ENSEMBL:ENSP00000483903", "ENSEMBL:ENSP00000483903.1", "UMLS:C5202740"], "information_content": 82.1}
{"id": "NCBIGene:23635", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SSBP2", "equivalent_identifiers": ["NCBIGene:23635", "ENSEMBL:ENSG00000145687", "HGNC:15831", "OMIM:607389", "UMLS:C1423760", "UniProtKB:A0A087X159", "ENSEMBL:ENSP00000483921", "ENSEMBL:ENSP00000483921.1", "UMLS:C1311429", "MESH:C477058", "UniProtKB:P81877", "PR:P81877", "UMLS:C3537375"]}
{"id": "UniProtKB:Q4VX76-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptotagmin-like protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q4VX76-1", "PR:Q4VX76-1", "ENSEMBL:ENSP00000353631", "ENSEMBL:ENSP00000353631.4", "ENSEMBL:ENSP00000483936", "ENSEMBL:ENSP00000483936.1"], "information_content": 100.0}
{"id": "NCBIGene:26147", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHF19", "equivalent_identifiers": ["NCBIGene:26147", "ENSEMBL:ENSG00000119403", "HGNC:24566", "OMIM:609740", "UMLS:C1428388", "UniProtKB:A0A087X169", "ENSEMBL:ENSP00000483946", "ENSEMBL:ENSP00000483946.1", "UMLS:C1566714", "MESH:C497703", "UniProtKB:B7Z887", "UniProtKB:B7Z8H3", "UniProtKB:F5H8K3", "ENSEMBL:ENSP00000407433", "ENSEMBL:ENSP00000407433.1", "UniProtKB:Q5T6S3", "PR:Q5T6S3"]}
{"id": "UniProtKB:N0E472", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "N0E472_HUMAN Casein kinase II subunit beta (trembl)", "equivalent_identifiers": ["UniProtKB:N0E472", "ENSEMBL:ENSP00000477860", "ENSEMBL:ENSP00000477860.1", "ENSEMBL:ENSP00000479902", "ENSEMBL:ENSP00000479902.1", "ENSEMBL:ENSP00000480237", "ENSEMBL:ENSP00000480237.1", "ENSEMBL:ENSP00000483938", "ENSEMBL:ENSP00000483938.1", "ENSEMBL:ENSP00000483989", "ENSEMBL:ENSP00000483989.2"]}
{"id": "UniProtKB:Q9NUD5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger CCHC domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUD5-1", "PR:Q9NUD5-1", "ENSEMBL:ENSP00000484056", "ENSEMBL:ENSP00000484056.1"], "information_content": 100.0}
{"id": "NCBIGene:29993", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PACSIN1", "equivalent_identifiers": ["NCBIGene:29993", "ENSEMBL:ENSG00000124507", "HGNC:8570", "OMIM:606512", "UMLS:C1418241", "UniProtKB:Q5TZC3", "UMLS:C1436569", "MESH:C492182", "UniProtKB:Q9BY11", "PR:Q9BY11", "ENSEMBL:ENSP00000244458", "ENSEMBL:ENSP00000244458.2", "ENSEMBL:ENSP00000439639", "ENSEMBL:ENSP00000439639.1", "ENSEMBL:ENSP00000484060", "ENSEMBL:ENSP00000484060.1"], "information_content": 100.0}
{"id": "NCBIGene:6359", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCL15", "equivalent_identifiers": ["NCBIGene:6359", "ENSEMBL:ENSG00000275718", "HGNC:10613", "OMIM:601393", "UMLS:C1332679", "UniProtKB:Q16663", "PR:Q16663", "ENSEMBL:ENSP00000477788", "ENSEMBL:ENSP00000477788.1", "ENSEMBL:ENSP00000484078", "ENSEMBL:ENSP00000484078.1", "UMLS:C1308290", "MESH:C108814"], "information_content": 92.8}
{"id": "UniProtKB:P49643-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA primase large subunit isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49643-1", "PR:P49643-1", "ENSEMBL:ENSP00000484105", "ENSEMBL:ENSP00000484105.1"], "information_content": 100.0}
{"id": "NCBIGene:23647", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARFIP2", "equivalent_identifiers": ["NCBIGene:23647", "ENSEMBL:ENSG00000132254", "HGNC:17160", "OMIM:601638", "UMLS:C1424785", "UniProtKB:A0A087X1E4", "ENSEMBL:ENSP00000484121", "ENSEMBL:ENSP00000484121.1", "UMLS:C1307788", "MESH:C101158", "UniProtKB:B4DUZ3", "UniProtKB:B4DXH2", "UniProtKB:P53365", "PR:P53365"]}
{"id": "UniProtKB:A8K830-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "POU class 2 homeobox associating factor 3 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:A8K830-5", "PR:A8K830-5", "ENSEMBL:ENSP00000484135", "ENSEMBL:ENSP00000484135.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H3U5-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal dipeptide transporter MFSD1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q9H3U5-6", "PR:Q9H3U5-6", "ENSEMBL:ENSP00000484175", "ENSEMBL:ENSP00000484175.1"], "information_content": 100.0}
{"id": "UniProtKB:A5D8T8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 18 member A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A5D8T8-1", "PR:A5D8T8-1", "ENSEMBL:ENSP00000288040", "ENSEMBL:ENSP00000288040.6", "ENSEMBL:ENSP00000377304", "ENSEMBL:ENSP00000377304.2", "ENSEMBL:ENSP00000454685", "ENSEMBL:ENSP00000454685.1", "ENSEMBL:ENSP00000484176", "ENSEMBL:ENSP00000484176.1"], "information_content": 100.0}
{"id": "NCBIGene:101060351", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TBC1D3K", "equivalent_identifiers": ["NCBIGene:101060351", "ENSEMBL:ENSG00000273513", "HGNC:51245", "UMLS:C3889181", "UniProtKB:A0A087X1G2", "PR:A0A087X1G2", "ENSEMBL:ENSP00000484181", "ENSEMBL:ENSP00000484181.1"], "information_content": 100.0}
{"id": "UniProtKB:Q3SY00-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "testis-specific protein 10-interacting protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q3SY00-1", "PR:Q3SY00-1", "ENSEMBL:ENSP00000484252", "ENSEMBL:ENSP00000484252.1"], "information_content": 100.0}
{"id": "NCBIGene:474382", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2AB1", "equivalent_identifiers": ["NCBIGene:474382", "ENSEMBL:ENSG00000274183", "HGNC:22516", "OMIM:301037", "UMLS:C1539626", "UniProtKB:P0C5Y9", "PR:P0C5Y9", "ENSEMBL:ENSP00000484261", "ENSEMBL:ENSP00000484261.2", "UMLS:C4722655"], "information_content": 95.4}
{"id": "NCBIGene:283953", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM114", "equivalent_identifiers": ["NCBIGene:283953", "ENSEMBL:ENSG00000232258", "HGNC:33227", "OMIM:611579", "UMLS:C1969042", "UniProtKB:A0A096LNY9", "ENSEMBL:ENSP00000485294", "ENSEMBL:ENSP00000485294.1", "UMLS:C2000936", "MESH:C523698", "UniProtKB:B3SHH9", "PR:B3SHH9", "ENSEMBL:ENSP00000484263", "ENSEMBL:ENSP00000484263.1", "UniProtKB:H3BM71", "ENSEMBL:ENSP00000454261", "ENSEMBL:ENSP00000454261.2"], "information_content": 100.0}
{"id": "NCBIGene:3981", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LIG4", "equivalent_identifiers": ["NCBIGene:3981", "ENSEMBL:ENSG00000174405", "HGNC:6601", "OMIM:601837", "UMLS:C1334340", "UniProtKB:A0A0C4DGV9", "ENSEMBL:ENSP00000480814", "ENSEMBL:ENSP00000480814.1", "ENSEMBL:ENSP00000508867", "ENSEMBL:ENSP00000508867.1", "ENSEMBL:ENSP00000509468", "ENSEMBL:ENSP00000509468.1", "UniProtKB:A8K8Q4", "UniProtKB:P49917", "PR:P49917", "ENSEMBL:ENSP00000385955", "ENSEMBL:ENSP00000385955.1", "ENSEMBL:ENSP00000402030", "ENSEMBL:ENSP00000402030.1", "ENSEMBL:ENSP00000484288", "ENSEMBL:ENSP00000484288.1", "ENSEMBL:ENSP00000508512", "ENSEMBL:ENSP00000508512.1", "ENSEMBL:ENSP00000509122", "ENSEMBL:ENSP00000509122.1", "ENSEMBL:ENSP00000509226", "ENSEMBL:ENSP00000509226.1", "ENSEMBL:ENSP00000509299", "ENSEMBL:ENSP00000509299.1", "ENSEMBL:ENSP00000509304", "ENSEMBL:ENSP00000509304.1", "ENSEMBL:ENSP00000509344", "ENSEMBL:ENSP00000509344.1", "ENSEMBL:ENSP00000509502", "ENSEMBL:ENSP00000509502.1", "ENSEMBL:ENSP00000509564", "ENSEMBL:ENSP00000509564.1", "ENSEMBL:ENSP00000509685", "ENSEMBL:ENSP00000509685.1", "ENSEMBL:ENSP00000509906", "ENSEMBL:ENSP00000509906.1", "ENSEMBL:ENSP00000509942", "ENSEMBL:ENSP00000509942.1", "ENSEMBL:ENSP00000510014", "ENSEMBL:ENSP00000510014.1", "ENSEMBL:ENSP00000510567", "ENSEMBL:ENSP00000510567.1", "UMLS:C1442799", "MESH:C000607893"], "information_content": 92.8}
{"id": "NCBIGene:5269", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SERPINB6", "equivalent_identifiers": ["NCBIGene:5269", "ENSEMBL:ENSG00000124570", "HGNC:8950", "OMIM:173321", "UMLS:C1418551", "UniProtKB:A0A024QZX5", "ENSEMBL:ENSP00000481398", "ENSEMBL:ENSP00000481398.1", "ENSEMBL:ENSP00000495362", "ENSEMBL:ENSP00000495362.1", "UMLS:C1451032", "UniProtKB:A0A087X1N8", "ENSEMBL:ENSP00000484343", "ENSEMBL:ENSP00000484343.1", "UniProtKB:A0A2R8YD12", "ENSEMBL:ENSP00000494161", "ENSEMBL:ENSP00000494161.1", "UniProtKB:P35237", "PR:P35237", "ENSEMBL:ENSP00000369891", "ENSEMBL:ENSP00000369891.1", "ENSEMBL:ENSP00000369896", "ENSEMBL:ENSP00000369896.1", "ENSEMBL:ENSP00000369901", "ENSEMBL:ENSP00000369901.1", "ENSEMBL:ENSP00000369912", "ENSEMBL:ENSP00000369912.2", "ENSEMBL:ENSP00000369919", "ENSEMBL:ENSP00000369919.3", "ENSEMBL:ENSP00000493936", "ENSEMBL:ENSP00000493936.1", "ENSEMBL:ENSP00000494650", "ENSEMBL:ENSP00000494650.1", "ENSEMBL:ENSP00000496073", "ENSEMBL:ENSP00000496073.1"]}
{"id": "UniProtKB:B6A8C7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-cell-interacting, activating receptor on myeloid cells protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:B6A8C7-2", "PR:B6A8C7-2", "ENSEMBL:ENSP00000484383", "ENSEMBL:ENSP00000484383.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UIK4-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "death-associated protein kinase 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIK4-2", "PR:Q9UIK4-2", "ENSEMBL:ENSP00000453235", "ENSEMBL:ENSP00000453235.1", "ENSEMBL:ENSP00000484390", "ENSEMBL:ENSP00000484390.1"], "information_content": 100.0}
{"id": "NCBIGene:6525", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMTN", "equivalent_identifiers": ["NCBIGene:6525", "ENSEMBL:ENSG00000183963", "HGNC:11126", "OMIM:602127", "UMLS:C1420265", "UniProtKB:A0A087WVP4", "ENSEMBL:ENSP00000479578", "ENSEMBL:ENSP00000479578.1", "UMLS:C1449000", "MESH:C100762", "UniProtKB:A0A087X1R1", "ENSEMBL:ENSP00000484398", "ENSEMBL:ENSP00000484398.1", "UniProtKB:B4DI56", "UniProtKB:B4E229", "UniProtKB:P53814", "PR:P53814"]}
{"id": "UniProtKB:P56180-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative tyrosine-protein phosphatase TPTE isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P56180-1", "PR:P56180-1", "ENSEMBL:ENSP00000484403", "ENSEMBL:ENSP00000484403.1"], "information_content": 100.0}
{"id": "NCBIGene:3200", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXA3", "equivalent_identifiers": ["NCBIGene:3200", "ENSEMBL:ENSG00000105997", "HGNC:5104", "OMIM:142954", "UMLS:C1415657", "UniProtKB:A4D182", "UMLS:C1453599", "MESH:C489832", "UniProtKB:B3KPN8", "UniProtKB:O43365", "PR:O43365", "ENSEMBL:ENSP00000324884", "ENSEMBL:ENSP00000324884.2", "ENSEMBL:ENSP00000379640", "ENSEMBL:ENSP00000379640.3", "ENSEMBL:ENSP00000484411", "ENSEMBL:ENSP00000484411.1", "UMLS:C3541287"], "information_content": 100.0}
{"id": "NCBIGene:962", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD48", "equivalent_identifiers": ["NCBIGene:962", "ENSEMBL:ENSG00000117091", "HGNC:1683", "OMIM:109530", "UMLS:C1413226", "UniProtKB:A0A087X1S7", "ENSEMBL:ENSP00000484431", "ENSEMBL:ENSP00000484431.1", "UniProtKB:P09326", "PR:P09326", "UMLS:C0081820", "MESH:C000604065"]}
{"id": "UniProtKB:P51956-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serine/threonine-protein kinase Nek3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P51956-1", "PR:P51956-1", "ENSEMBL:ENSP00000480328", "ENSEMBL:ENSP00000480328.1", "ENSEMBL:ENSP00000484443", "ENSEMBL:ENSP00000484443.1"], "information_content": 100.0}
{"id": "NCBIGene:83481", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPPK1", "equivalent_identifiers": ["NCBIGene:83481", "ENSEMBL:ENSG00000261150", "HGNC:15577", "OMIM:607553", "UMLS:C1423589", "UniProtKB:P58107", "PR:P58107", "ENSEMBL:ENSP00000484472", "ENSEMBL:ENSP00000484472.1"], "information_content": 92.8}
{"id": "NCBIGene:3442", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFNA5", "equivalent_identifiers": ["NCBIGene:3442", "ENSEMBL:ENSG00000147873", "HGNC:5426", "OMIM:147565", "UMLS:C1415907", "UniProtKB:A0A7R8C382", "UMLS:C2974613", "MESH:C554160", "UniProtKB:P01569", "PR:P01569", "ENSEMBL:ENSP00000484479", "ENSEMBL:ENSP00000484479.1"], "information_content": 95.4}
{"id": "UniProtKB:Q8N0T1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ribosomal biogenesis factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N0T1-1", "PR:Q8N0T1-1", "ENSEMBL:ENSP00000481745", "ENSEMBL:ENSP00000481745.1", "ENSEMBL:ENSP00000482944", "ENSEMBL:ENSP00000482944.1", "ENSEMBL:ENSP00000484101", "ENSEMBL:ENSP00000484101.1", "ENSEMBL:ENSP00000484492", "ENSEMBL:ENSP00000484492.1", "ENSEMBL:ENSP00000484811", "ENSEMBL:ENSP00000484811.1"], "information_content": 100.0}
{"id": "NCBIGene:341277", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OVCH2", "equivalent_identifiers": ["NCBIGene:341277", "ENSEMBL:ENSG00000183378", "HGNC:29970", "OMIM:618962", "UMLS:C1538556", "UniProtKB:A0A087X1V8", "ENSEMBL:ENSP00000484497", "ENSEMBL:ENSP00000484497.2", "ENSEMBL:ENSP00000484790", "ENSEMBL:ENSP00000484790.1"]}
{"id": "MONDO:0013413", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinitis pigmentosa 45", "equivalent_identifiers": ["MONDO:0013413", "DOID:0110402", "OMIM:613767", "UMLS:C3151066", "medgen:462416"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5B0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RNA polymerase II subunit A C-terminal domain phosphatase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5B0-1", "PR:Q9Y5B0-1", "ENSEMBL:ENSP00000484525", "ENSEMBL:ENSP00000484525.2"], "information_content": 100.0}
{"id": "NCBIGene:2702", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJA5", "equivalent_identifiers": ["NCBIGene:2702", "ENSEMBL:ENSG00000265107", "HGNC:4279", "OMIM:121013", "UMLS:C1415073", "UniProtKB:P36382", "PR:P36382", "ENSEMBL:ENSP00000463851", "ENSEMBL:ENSP00000463851.1", "ENSEMBL:ENSP00000484552", "ENSEMBL:ENSP00000484552.1", "UniProtKB:X5D2H9"], "information_content": 95.4}
{"id": "NCBIGene:5504", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R2", "equivalent_identifiers": ["NCBIGene:5504", "ENSEMBL:ENSG00000184203", "HGNC:9288", "OMIM:601792", "UMLS:C1418826", "UniProtKB:P41236", "PR:P41236", "ENSEMBL:ENSP00000484580", "ENSEMBL:ENSP00000484580.1", "UMLS:C1453781"], "information_content": 81.3}
{"id": "UniProtKB:P16562-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cysteine-rich secretory protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P16562-1", "PR:P16562-1", "ENSEMBL:ENSP00000339155", "ENSEMBL:ENSP00000339155.4", "ENSEMBL:ENSP00000484609", "ENSEMBL:ENSP00000484609.1"], "information_content": 100.0}
{"id": "NCBIGene:100506013", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "APELA", "equivalent_identifiers": ["NCBIGene:100506013", "ENSEMBL:ENSG00000248329", "HGNC:48925", "OMIM:615594", "UMLS:C3810054", "UniProtKB:P0DMC3", "PR:P0DMC3", "ENSEMBL:ENSP00000478306", "ENSEMBL:ENSP00000478306.1", "ENSEMBL:ENSP00000480045", "ENSEMBL:ENSP00000480045.1", "ENSEMBL:ENSP00000484618", "ENSEMBL:ENSP00000484618.1", "UMLS:C4077562", "UMLS:C4521464", "MESH:C000601133"], "information_content": 100.0}
{"id": "UniProtKB:Q86X45-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal assembly factor 11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86X45-1", "PR:Q86X45-1", "ENSEMBL:ENSP00000429791", "ENSEMBL:ENSP00000429791.1", "ENSEMBL:ENSP00000484634", "ENSEMBL:ENSP00000484634.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZMB0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZMB0-1", "PR:Q6ZMB0-1", "ENSEMBL:ENSP00000484640", "ENSEMBL:ENSP00000484640.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUX1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione-specific gamma-glutamylcyclotransferase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUX1-1", "PR:Q9BUX1-1", "ENSEMBL:ENSP00000484644", "ENSEMBL:ENSP00000484644.2"], "information_content": 100.0}
{"id": "NCBIGene:29894", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CPSF1", "equivalent_identifiers": ["NCBIGene:29894", "ENSEMBL:ENSG00000071894", "HGNC:2324", "OMIM:606027", "UMLS:C1413684", "UniProtKB:Q10570", "PR:Q10570", "ENSEMBL:ENSP00000478145", "ENSEMBL:ENSP00000478145.1", "ENSEMBL:ENSP00000484669", "ENSEMBL:ENSP00000484669.1", "ENSEMBL:ENSP00000495020", "ENSEMBL:ENSP00000495020.1", "ENSEMBL:ENSP00000495102", "ENSEMBL:ENSP00000495102.1", "UMLS:C5543846", "MESH:C000713057"], "information_content": 87.2}
{"id": "UniProtKB:Q15649-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger HIT domain-containing protein 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15649-1", "PR:Q15649-1", "ENSEMBL:ENSP00000481504", "ENSEMBL:ENSP00000481504.1", "ENSEMBL:ENSP00000484687", "ENSEMBL:ENSP00000484687.1"], "information_content": 100.0}
{"id": "MONDO:0011448", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PPARG-related familial partial lipodystrophy", "equivalent_identifiers": ["MONDO:0011448", "DOID:0070204", "OMIM:604367", "orphanet:79083", "UMLS:C1720861", "SNOMEDCT:1197745002", "medgen:328393"], "information_content": 100.0}
{"id": "NCBIGene:10581", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFITM2", "equivalent_identifiers": ["NCBIGene:10581", "ENSEMBL:ENSG00000185201", "HGNC:5413", "OMIM:605578", "UMLS:C1415897", "UniProtKB:Q01629", "PR:Q01629", "ENSEMBL:ENSP00000484689", "ENSEMBL:ENSP00000484689.1", "ENSEMBL:ENSP00000505840", "ENSEMBL:ENSP00000505840.1", "UMLS:C0657731", "MESH:C080081"], "information_content": 90.9}
{"id": "NCBIGene:100170841", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EPOP", "equivalent_identifiers": ["NCBIGene:100170841", "ENSEMBL:ENSG00000273604", "HGNC:34493", "OMIM:617795", "UMLS:C2681300", "UniProtKB:A6NHQ4", "PR:A6NHQ4", "ENSEMBL:ENSP00000483859", "ENSEMBL:ENSP00000483859.1", "ENSEMBL:ENSP00000484710", "ENSEMBL:ENSP00000484710.1", "UMLS:C3849208", "MESH:C587817"], "information_content": 95.4}
{"id": "NCBIGene:23325", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WASHC4", "equivalent_identifiers": ["NCBIGene:23325", "ENSEMBL:ENSG00000136051", "HGNC:29174", "OMIM:615748", "UMLS:C1537460", "UniProtKB:A0A087X256", "ENSEMBL:ENSP00000484713", "ENSEMBL:ENSP00000484713.1", "UniProtKB:B7ZKT9", "UniProtKB:Q2M389", "PR:Q2M389"]}
{"id": "MONDO:0013515", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "osteogenesis imperfecta type 6", "equivalent_identifiers": ["MONDO:0013515", "DOID:0110350", "OMIM:613982", "UMLS:C3279564", "MESH:C536047", "medgen:481194"], "information_content": 100.0}
{"id": "UniProtKB:Q9C0H9-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SRC kinase signaling inhibitor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9C0H9-5", "PR:Q9C0H9-5", "ENSEMBL:ENSP00000480869", "ENSEMBL:ENSP00000480869.1", "ENSEMBL:ENSP00000484715", "ENSEMBL:ENSP00000484715.1"], "information_content": 100.0}
{"id": "NCBIGene:83862", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM120A", "equivalent_identifiers": ["NCBIGene:83862", "ENSEMBL:ENSG00000189077", "HGNC:21697", "OMIM:616550", "UMLS:C2240087", "UniProtKB:A0A087X266", "ENSEMBL:ENSP00000484736", "ENSEMBL:ENSP00000484736.1", "UniProtKB:Q9BXJ8", "PR:Q9BXJ8"]}
{"id": "MONDO:0012528", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypogonadotropic hypogonadism 4 with or without anosmia", "equivalent_identifiers": ["MONDO:0012528", "DOID:0090077", "OMIM:610628", "UMLS:C1857720", "UMLS:C3552343", "MESH:C565696", "medgen:765257"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z3E5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "LisH domain-containing protein ARMC9 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z3E5-1", "PR:Q7Z3E5-1", "ENSEMBL:ENSP00000484804", "ENSEMBL:ENSP00000484804.1"], "information_content": 100.0}
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{"id": "UniProtKB:Q96GC6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neurotrophin receptor-interacting factor homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GC6-1", "PR:Q96GC6-1", "ENSEMBL:ENSP00000478533", "ENSEMBL:ENSP00000478533.1", "ENSEMBL:ENSP00000484810", "ENSEMBL:ENSP00000484810.1"], "information_content": 100.0}
{"id": "NCBIGene:284349", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF283", "equivalent_identifiers": ["NCBIGene:284349", "ENSEMBL:ENSG00000167637", "HGNC:13077", "UMLS:C1421769", "UniProtKB:Q8N7M2", "PR:Q8N7M2", "ENSEMBL:ENSP00000327314", "ENSEMBL:ENSP00000327314.7", "ENSEMBL:ENSP00000484852", "ENSEMBL:ENSP00000484852.1"], "information_content": 100.0}
{"id": "NCBIGene:10640", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXOC5", "equivalent_identifiers": ["NCBIGene:10640", "ENSEMBL:ENSG00000070367", "HGNC:10696", "OMIM:604469", "UMLS:C1825078", "UniProtKB:O00471", "PR:O00471", "ENSEMBL:ENSP00000484855", "ENSEMBL:ENSP00000484855.1", "UMLS:C0963895", "MESH:C419575"], "information_content": 89.4}
{"id": "UniProtKB:Q9UKF5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disintegrin and metalloproteinase domain-containing protein 29 isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q9UKF5-1", "PR:Q9UKF5-1", "ENSEMBL:ENSP00000352177", "ENSEMBL:ENSP00000352177.3", "ENSEMBL:ENSP00000384229", "ENSEMBL:ENSP00000384229.3", "ENSEMBL:ENSP00000414544", "ENSEMBL:ENSP00000414544.1", "ENSEMBL:ENSP00000423517", "ENSEMBL:ENSP00000423517.1", "ENSEMBL:ENSP00000478469", "ENSEMBL:ENSP00000478469.1", "ENSEMBL:ENSP00000484862", "ENSEMBL:ENSP00000484862.1"], "information_content": 100.0}
{"id": "NCBIGene:653404", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXD4L6", "equivalent_identifiers": ["NCBIGene:653404", "ENSEMBL:ENSG00000273514", "HGNC:31986", "UMLS:C2239459", "UniProtKB:Q3SYB3", "PR:Q3SYB3", "ENSEMBL:ENSP00000484875", "ENSEMBL:ENSP00000484875.1"], "information_content": 100.0}
{"id": "MONDO:0006145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chondroid chordoma", "equivalent_identifiers": ["MONDO:0006145", "DOID:4152", "EFO:1000174", "UMLS:C1266173", "NCIT:C6902", "SNOMEDCT:128784007", "medgen:224768"], "information_content": 92.8}
{"id": "NCBIGene:84311", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL45", "equivalent_identifiers": ["NCBIGene:84311", "ENSEMBL:ENSG00000278845", "HGNC:16651", "OMIM:611850", "UMLS:C1424466", "UniProtKB:A0A087WU62", "ENSEMBL:ENSP00000478397", "ENSEMBL:ENSP00000478397.1", "UniProtKB:A0A087X2D5", "ENSEMBL:ENSP00000484903", "ENSEMBL:ENSP00000484903.1", "UniProtKB:B4DEF8"]}
{"id": "UniProtKB:P55283-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P55283-1", "PR:P55283-1", "ENSEMBL:ENSP00000484928", "ENSEMBL:ENSP00000484928.1"], "information_content": 100.0}
{"id": "NCBIGene:5706", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSMC6", "equivalent_identifiers": ["NCBIGene:5706", "ENSEMBL:ENSG00000100519", "HGNC:9553", "OMIM:602708", "UMLS:C1419026", "UniProtKB:A0A087X2I1", "ENSEMBL:ENSP00000484998", "ENSEMBL:ENSP00000484998.1", "UMLS:C4276492", "MESH:C000609606", "UniProtKB:P62333", "PR:P62333", "ENSEMBL:ENSP00000401802", "ENSEMBL:ENSP00000401802.3"]}
{"id": "NCBIGene:4261", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CIITA", "equivalent_identifiers": ["NCBIGene:4261", "ENSEMBL:ENSG00000179583", "HGNC:7067", "OMIM:600005", "UMLS:C1824738", "UniProtKB:A0A087X2I7", "ENSEMBL:ENSP00000485010", "ENSEMBL:ENSP00000485010.1", "UniProtKB:P33076", "PR:P33076", "UMLS:C1435283", "UniProtKB:Q66X48"]}
{"id": "NCBIGene:56667", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUC13", "equivalent_identifiers": ["NCBIGene:56667", "ENSEMBL:ENSG00000173702", "HGNC:7511", "OMIM:612181", "UMLS:C1417493", "UniProtKB:Q9H3R2", "PR:Q9H3R2", "ENSEMBL:ENSP00000485028", "ENSEMBL:ENSP00000485028.1", "UMLS:C1309974", "MESH:C429552"], "information_content": 95.4}
{"id": "NCBIGene:1793", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DOCK1", "equivalent_identifiers": ["NCBIGene:1793", "ENSEMBL:ENSG00000150760", "HGNC:2987", "OMIM:601403", "UMLS:C1333245", "UniProtKB:A0A096LNH6", "ENSEMBL:ENSP00000485033", "ENSEMBL:ENSP00000485033.1", "UniProtKB:A0A2X0U2H5", "UMLS:C1448986", "MESH:C099818", "UniProtKB:B2RUU3", "UniProtKB:Q14185", "PR:Q14185", "ENSEMBL:ENSP00000280333", "ENSEMBL:ENSP00000280333.6", "UMLS:C1333263"]}
{"id": "NCBIGene:642623", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBTFL1", "equivalent_identifiers": ["NCBIGene:642623", "ENSEMBL:ENSG00000255009", "HGNC:14533", "OMIM:613696", "UMLS:C2681098", "UniProtKB:P0CB47", "PR:P0CB47", "ENSEMBL:ENSP00000485108", "ENSEMBL:ENSP00000485108.1"], "information_content": 100.0}
{"id": "NCBIGene:26529", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR12D2", "equivalent_identifiers": ["NCBIGene:26529", "ENSEMBL:ENSG00000280236", "HGNC:8178", "UMLS:C1417983", "UniProtKB:A0A126GV87", "UniProtKB:P58182", "PR:P58182", "ENSEMBL:ENSP00000366345", "ENSEMBL:ENSP00000366345.5", "ENSEMBL:ENSP00000414137", "ENSEMBL:ENSP00000414137.3", "ENSEMBL:ENSP00000415065", "ENSEMBL:ENSP00000415065.3", "ENSEMBL:ENSP00000485112", "ENSEMBL:ENSP00000485112.1", "ENSEMBL:ENSP00000493463", "ENSEMBL:ENSP00000493463.1"], "information_content": 100.0}
{"id": "MONDO:0011159", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nonsyndromic hearing loss 13", "equivalent_identifiers": ["MONDO:0011159", "DOID:0110545", "OMIM:601868", "UMLS:C1866095", "MESH:C566612", "medgen:400917"], "information_content": 100.0}
{"id": "NCBIGene:5676", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PSG7", "equivalent_identifiers": ["NCBIGene:5676", "ENSEMBL:ENSG00000221878", "HGNC:9524", "OMIM:176396", "UMLS:C1418999", "UniProtKB:A0A096LNM5", "ENSEMBL:ENSP00000485117", "ENSEMBL:ENSP00000485117.1", "UniProtKB:Q13046", "PR:Q13046", "ENSEMBL:ENSP00000421986", "ENSEMBL:ENSP00000421986.1"]}
{"id": "NCBIGene:727830", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA31A3", "equivalent_identifiers": ["NCBIGene:727830", "ENSEMBL:ENSG00000275969", "HGNC:32003", "UMLS:C2239402", "UniProtKB:Q5VYP0", "PR:Q5VYP0", "ENSEMBL:ENSP00000485118", "ENSEMBL:ENSP00000485118.1"], "information_content": 100.0}
{"id": "MONDO:0001966", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic closed-angle glaucoma", "equivalent_identifiers": ["MONDO:0001966", "DOID:14445", "UMLS:C0154947", "MEDDRA:10008833", "SNOMEDCT:33647009", "medgen:509736", "ICD10:H40.22", "ICD9:365.23"], "information_content": 100.0}
{"id": "NCBIGene:653505", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPIAL4A", "equivalent_identifiers": ["NCBIGene:653505", "ENSEMBL:ENSG00000263353", "HGNC:24369", "UMLS:C1538708", "UniProtKB:Q9Y536", "PR:Q9Y536", "ENSEMBL:ENSP00000485206", "ENSEMBL:ENSP00000485206.1", "ENSEMBL:ENSP00000517691", "ENSEMBL:ENSP00000517691.1"], "information_content": 100.0}
{"id": "NCBIGene:729597", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPDYE6", "equivalent_identifiers": ["NCBIGene:729597", "ENSEMBL:ENSG00000260097", "HGNC:35465", "UMLS:C2680442", "UniProtKB:P0CI01", "PR:P0CI01", "ENSEMBL:ENSP00000485230", "ENSEMBL:ENSP00000485230.1"], "information_content": 100.0}
{"id": "UniProtKB:A0AVI2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fer-1-like protein 5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A0AVI2-1", "PR:A0AVI2-1", "ENSEMBL:ENSP00000485238", "ENSEMBL:ENSP00000485238.1"], "information_content": 100.0}
{"id": "NCBIGene:343070", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF9", "equivalent_identifiers": ["NCBIGene:343070", "ENSEMBL:ENSG00000204505", "HGNC:27996", "UMLS:C1826681", "UniProtKB:A0A096LNW4", "ENSEMBL:ENSP00000485258", "ENSEMBL:ENSP00000485258.1", "ENSEMBL:ENSP00000488044", "ENSEMBL:ENSP00000488044.1"]}
{"id": "NCBIGene:101929796", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOTCH2NLR", "equivalent_identifiers": ["NCBIGene:101929796", "ENSEMBL:ENSG00000286106", "HGNC:53925", "OMIM:618026", "UMLS:C4761790", "UniProtKB:A0A096LNW5", "PR:A0A096LNW5", "ENSEMBL:ENSP00000485259", "ENSEMBL:ENSP00000485259.2", "ENSEMBL:ENSP00000517693", "ENSEMBL:ENSP00000517693.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96GP6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "scavenger receptor class F member 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96GP6-1", "PR:Q96GP6-1", "ENSEMBL:ENSP00000485276", "ENSEMBL:ENSP00000485276.1"], "information_content": 100.0}
{"id": "NCBIGene:219428", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4C16", "equivalent_identifiers": ["NCBIGene:219428", "ENSEMBL:ENSG00000279514", "HGNC:15172", "UMLS:C1423266", "UniProtKB:Q8NGL9", "PR:Q8NGL9", "ENSEMBL:ENSP00000485295", "ENSEMBL:ENSP00000485295.1", "UMLS:C5196888", "MESH:C000630365"], "information_content": 100.0}
{"id": "MONDO:0004265", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute endometritis", "equivalent_identifiers": ["MONDO:0004265", "DOID:7528", "UMLS:C0238103", "NCIT:C27022", "SNOMEDCT:67667007", "medgen:68654", "icd11.foundation:1197441046"], "information_content": 95.4}
{"id": "NCBIGene:219437", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5L1", "equivalent_identifiers": ["NCBIGene:219437", "ENSEMBL:ENSG00000279395", "HGNC:8350", "UMLS:C1418095", "UniProtKB:A0A126GVL0", "UniProtKB:Q8NGL2", "PR:Q8NGL2", "ENSEMBL:ENSP00000485319", "ENSEMBL:ENSP00000485319.1"], "information_content": 100.0}
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{"id": "UniProtKB:Q8NDA2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hemicentin-2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NDA2-1", "PR:Q8NDA2-1", "ENSEMBL:ENSP00000485357", "ENSEMBL:ENSP00000485357.2"], "information_content": 100.0}
{"id": "UniProtKB:B3EWG5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FM25C_HUMAN Protein FAM25C (sprot)", "equivalent_identifiers": ["UniProtKB:B3EWG5", "PR:B3EWG5", "ENSEMBL:ENSP00000485370", "ENSEMBL:ENSP00000485370.1", "ENSEMBL:ENSP00000500536", "ENSEMBL:ENSP00000500536.1"], "information_content": 95.4}
{"id": "NCBIGene:202658", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM39-RPP21", "equivalent_identifiers": ["NCBIGene:202658", "ENSEMBL:ENSG00000248167", "HGNC:38845", "UMLS:C3146765", "UniProtKB:A0A096LP39", "ENSEMBL:ENSP00000446632", "ENSEMBL:ENSP00000446632.2", "ENSEMBL:ENSP00000446993", "ENSEMBL:ENSP00000446993.2", "ENSEMBL:ENSP00000485378", "ENSEMBL:ENSP00000485378.1", "UMLS:C3713810", "UniProtKB:A6ZJ12"]}
{"id": "MONDO:0007896", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute monocytic leukemia", "equivalent_identifiers": ["MONDO:0007896", "DOID:8864", "OMIM:151380", "orphanet:514", "EFO:0000221", "UMLS:C0023465", "UMLS:C0457334", "UMLS:C1318544", "MESH:D007948", "MEDDRA:10000870", "MEDDRA:10000871", "MEDDRA:10000873", "MEDDRA:10024342", "MEDDRA:10027890", "MEDDRA:10027895", "MEDDRA:10059439", "MEDDRA:10060392", "NCIT:C4861", "NCIT:C7171", "SNOMEDCT:22331004", "SNOMEDCT:278170009", "SNOMEDCT:413441006", "medgen:7319", "icd11.foundation:517546180", "ICD9:206.0", "HP:0004845"], "information_content": 86.3}
{"id": "NCBIGene:440567", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UQCRHL", "equivalent_identifiers": ["NCBIGene:440567", "ENSEMBL:ENSG00000233954", "HGNC:51714", "UMLS:C4085400", "UniProtKB:A0A096LP55", "PR:A0A096LP55", "ENSEMBL:ENSP00000485401", "ENSEMBL:ENSP00000485401.1", "ENSEMBL:ENSP00000512811", "ENSEMBL:ENSP00000512811.1"], "information_content": 92.8}
{"id": "NCBIGene:79345", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR51B2", "equivalent_identifiers": ["NCBIGene:79345", "ENSEMBL:ENSG00000279012", "HGNC:14703", "OMIM:621187", "UMLS:C1422857", "UniProtKB:A0A126GWB2", "UniProtKB:Q9Y5P1", "PR:Q9Y5P1", "ENSEMBL:ENSP00000485407", "ENSEMBL:ENSP00000485407.1"], "information_content": 95.4}
{"id": "NCBIGene:390142", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5D13", "equivalent_identifiers": ["NCBIGene:390142", "ENSEMBL:ENSG00000279761", "HGNC:15280", "UMLS:C1423365", "UniProtKB:Q8NGL4", "PR:Q8NGL4", "ENSEMBL:ENSP00000485428", "ENSEMBL:ENSP00000485428.1"], "information_content": 100.0}
{"id": "NCBIGene:119764", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4X2", "equivalent_identifiers": ["NCBIGene:119764", "ENSEMBL:ENSG00000172208", "HGNC:15184", "UMLS:C1423277", "UniProtKB:A0A126GVL5", "UniProtKB:Q8NGF9", "PR:Q8NGF9", "ENSEMBL:ENSP00000485431", "ENSEMBL:ENSP00000485431.1"], "information_content": 95.4}
{"id": "NCBIGene:101060301", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HNRNPCL4", "equivalent_identifiers": ["NCBIGene:101060301", "ENSEMBL:ENSG00000179412", "HGNC:51333", "UMLS:C3892020", "UniProtKB:P0DMR1", "PR:P0DMR1", "ENSEMBL:ENSP00000485450", "ENSEMBL:ENSP00000485450.2", "ENSEMBL:ENSP00000488276", "ENSEMBL:ENSP00000488276.1", "ENSEMBL:ENSP00000490926", "ENSEMBL:ENSP00000490926.1"], "information_content": 100.0}
{"id": "NCBIGene:391003", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF18", "equivalent_identifiers": ["NCBIGene:391003", "ENSEMBL:ENSG00000279804", "HGNC:30693", "UMLS:C1826690", "UniProtKB:Q5VWM3", "PR:Q5VWM3", "ENSEMBL:ENSP00000485473", "ENSEMBL:ENSP00000485473.2", "ENSEMBL:ENSP00000488059", "ENSEMBL:ENSP00000488059.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96JP9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-related family member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JP9-1", "PR:Q96JP9-1", "ENSEMBL:ENSP00000485478", "ENSEMBL:ENSP00000485478.1"], "information_content": 100.0}
{"id": "NCBIGene:347148", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "QRFP", "equivalent_identifiers": ["NCBIGene:347148", "ENSEMBL:ENSG00000188710", "HGNC:29982", "OMIM:609795", "UMLS:C1853355", "UniProtKB:P83859", "PR:P83859", "ENSEMBL:ENSP00000345487", "ENSEMBL:ENSP00000345487.1", "ENSEMBL:ENSP00000485512", "ENSEMBL:ENSP00000485512.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y4E1-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "WASH complex subunit 2C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y4E1-7", "PR:Q9Y4E1-7", "ENSEMBL:ENSP00000485513", "ENSEMBL:ENSP00000485513.1"], "information_content": 100.0}
{"id": "NCBIGene:100130301", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C8orf89", "equivalent_identifiers": ["NCBIGene:100130301", "ENSEMBL:ENSG00000274443", "HGNC:51258", "UMLS:C3890150", "UniProtKB:A0A087WUN2", "ENSEMBL:ENSP00000478788", "ENSEMBL:ENSP00000478788.2", "UniProtKB:A0A096LNS9", "ENSEMBL:ENSP00000485199", "ENSEMBL:ENSP00000485199.1", "UniProtKB:P0DMQ9", "PR:P0DMQ9", "ENSEMBL:ENSP00000485524", "ENSEMBL:ENSP00000485524.1"], "information_content": 100.0}
{"id": "UniProtKB:P30566-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenylosuccinate lyase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P30566-1", "PR:P30566-1", "ENSEMBL:ENSP00000485525", "ENSEMBL:ENSP00000485525.1"], "information_content": 100.0}
{"id": "NCBIGene:644943", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RASSF10", "equivalent_identifiers": ["NCBIGene:644943", "ENSEMBL:ENSG00000189431", "HGNC:33984", "OMIM:614713", "UMLS:C2239870", "UniProtKB:A6NK89", "PR:A6NK89", "ENSEMBL:ENSP00000485526", "ENSEMBL:ENSP00000485526.1", "UMLS:C2933040", "MESH:C548440"], "information_content": 95.4}
{"id": "NCBIGene:143496", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52B4", "equivalent_identifiers": ["NCBIGene:143496", "ENSEMBL:ENSG00000221996", "HGNC:15209", "UMLS:C1423300", "UniProtKB:A0A126GW82", "UMLS:C4706094", "MESH:C000627682", "UniProtKB:Q8NGK2", "PR:Q8NGK2", "ENSEMBL:ENSP00000485530", "ENSEMBL:ENSP00000485530.1"], "information_content": 95.4}
{"id": "NCBIGene:730291", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF735", "equivalent_identifiers": ["NCBIGene:730291", "ENSEMBL:ENSG00000223614", "HGNC:32466", "UMLS:C3891250", "UniProtKB:P0CB33", "PR:P0CB33", "ENSEMBL:ENSP00000485547", "ENSEMBL:ENSP00000485547.1"], "information_content": 100.0}
{"id": "NCBIGene:100528017", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SAA2-SAA4", "equivalent_identifiers": ["NCBIGene:100528017", "ENSEMBL:ENSG00000255071", "HGNC:39550", "UMLS:C3146430", "UniProtKB:A0A096LPE2", "ENSEMBL:ENSP00000485552", "ENSEMBL:ENSP00000485552.1"]}
{"id": "NCBIGene:128367", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10X1", "equivalent_identifiers": ["NCBIGene:128367", "ENSEMBL:ENSG00000279111", "HGNC:14995", "UMLS:C1423121", "UniProtKB:A0A126GWA4", "UniProtKB:Q8NGY0", "PR:Q8NGY0", "ENSEMBL:ENSP00000485609", "ENSEMBL:ENSP00000485609.1"], "information_content": 100.0}
{"id": "NCBIGene:79324", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR51G1", "equivalent_identifiers": ["NCBIGene:79324", "ENSEMBL:ENSG00000278870", "HGNC:14738", "UMLS:C1422888", "UniProtKB:A0A126GVF5", "UniProtKB:Q8NGK1", "PR:Q8NGK1", "ENSEMBL:ENSP00000485612", "ENSEMBL:ENSP00000485612.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6AHZ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 518A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6AHZ1-1", "PR:Q6AHZ1-1", "ENSEMBL:ENSP00000479684", "ENSEMBL:ENSP00000479684.1", "ENSEMBL:ENSP00000481657", "ENSEMBL:ENSP00000481657.1", "ENSEMBL:ENSP00000485614", "ENSEMBL:ENSP00000485614.1"], "information_content": 100.0}
{"id": "NCBIGene:100287171", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "WASHC1", "equivalent_identifiers": ["NCBIGene:100287171", "ENSEMBL:ENSG00000181404", "HGNC:24361", "OMIM:613632", "UMLS:C2240171", "UniProtKB:A8K0Z3", "PR:A8K0Z3", "ENSEMBL:ENSP00000485627", "ENSEMBL:ENSP00000485627.1", "ENSEMBL:ENSP00000512441", "ENSEMBL:ENSP00000512441.1"], "information_content": 100.0}
{"id": "UniProtKB:P0DN26", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PAL4F_HUMAN Peptidyl-prolyl cis-trans isomerase A-like 4F (sprot)", "equivalent_identifiers": ["UniProtKB:P0DN26", "PR:P0DN26", "ENSEMBL:ENSP00000485638", "ENSEMBL:ENSP00000485638.1"], "information_content": 100.0}
{"id": "NCBIGene:645359", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF26", "equivalent_identifiers": ["NCBIGene:645359", "ENSEMBL:ENSG00000280267", "HGNC:49178", "UMLS:C3813019", "UniProtKB:H0Y7S4", "PR:H0Y7S4", "ENSEMBL:ENSP00000485656", "ENSEMBL:ENSP00000485656.1", "ENSEMBL:ENSP00000488002", "ENSEMBL:ENSP00000488002.1", "ENSEMBL:ENSP00000490397", "ENSEMBL:ENSP00000490397.1"], "information_content": 100.0}
{"id": "NCBIGene:4586", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MUC5AC", "equivalent_identifiers": ["NCBIGene:4586", "ENSEMBL:ENSG00000215182", "HGNC:7515", "OMIM:158373", "UMLS:C1417497", "UniProtKB:P98088", "PR:P98088", "ENSEMBL:ENSP00000485659", "ENSEMBL:ENSP00000485659.1", "ENSEMBL:ENSP00000516835", "ENSEMBL:ENSP00000516835.1"], "information_content": 95.4}
{"id": "NCBIGene:105369274", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4N4C", "equivalent_identifiers": ["NCBIGene:105369274", "ENSEMBL:ENSG00000279408", "HGNC:55110", "UMLS:C5445833", "UniProtKB:A0A096LPK9", "PR:A0A096LPK9", "ENSEMBL:ENSP00000485668", "ENSEMBL:ENSP00000485668.1"], "information_content": 100.0}
{"id": "NCBIGene:51250", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTRES1", "equivalent_identifiers": ["NCBIGene:51250", "ENSEMBL:ENSG00000130349", "HGNC:17971", "OMIM:618583", "UMLS:C1425209", "UniProtKB:A0A0D9SEI0", "ENSEMBL:ENSP00000485698", "ENSEMBL:ENSP00000485698.1", "UMLS:C5226180", "MESH:C000655138", "UniProtKB:Q9P0P8", "PR:Q9P0P8", "ENSEMBL:ENSP00000310951", "ENSEMBL:ENSP00000310951.5", "ENSEMBL:ENSP00000384867", "ENSEMBL:ENSP00000384867.2"]}
{"id": "UniProtKB:Q9UBN4-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "short transient receptor potential channel 4 isoform Epsilon (human)", "equivalent_identifiers": ["UniProtKB:Q9UBN4-5", "PR:Q9UBN4-5", "ENSEMBL:ENSP00000486109", "ENSEMBL:ENSP00000486109.1"], "information_content": 100.0}
{"id": "NCBIGene:140032", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS4Y2", "equivalent_identifiers": ["NCBIGene:140032", "ENSEMBL:ENSG00000280969", "HGNC:18501", "OMIM:400030", "UMLS:C1425562", "UniProtKB:Q8TD47", "PR:Q8TD47", "ENSEMBL:ENSP00000486252", "ENSEMBL:ENSP00000486252.1", "UMLS:C2973842", "MESH:C551796"], "information_content": 100.0}
{"id": "NCBIGene:10160", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FARP1", "equivalent_identifiers": ["NCBIGene:10160", "ENSEMBL:ENSG00000152767", "HGNC:3591", "OMIM:602654", "UMLS:C1414533", "UniProtKB:A0A2X0TVY0", "UMLS:C3711668", "MESH:C577227", "UniProtKB:C9JME2", "ENSEMBL:ENSP00000471242", "ENSEMBL:ENSP00000471242.1", "ENSEMBL:ENSP00000486285", "ENSEMBL:ENSP00000486285.1", "UniProtKB:Q9Y4F1", "PR:Q9Y4F1"]}
{"id": "UniProtKB:Q9HAC7-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "succinyl-CoA:glutarate CoA-transferase isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9HAC7-3", "PR:Q9HAC7-3", "ENSEMBL:ENSP00000486291", "ENSEMBL:ENSP00000486291.2"], "information_content": 100.0}
{"id": "NCBIGene:23262", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPIP5K2", "equivalent_identifiers": ["NCBIGene:23262", "ENSEMBL:ENSG00000145725", "HGNC:29035", "OMIM:611648", "UMLS:C1825476", "UniProtKB:A0A087WZV0", "ENSEMBL:ENSP00000482907", "ENSEMBL:ENSP00000482907.1", "ENSEMBL:ENSP00000486357", "ENSEMBL:ENSP00000486357.1", "UMLS:C3253730", "MESH:C562140", "UniProtKB:A0A8V8TMN4", "ENSEMBL:ENSP00000513912", "ENSEMBL:ENSP00000513912.1", "UniProtKB:B4DGV1", "UniProtKB:O43314", "PR:O43314"]}
{"id": "UniProtKB:P07108-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acyl-CoA-binding protein isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P07108-5", "PR:P07108-5", "ENSEMBL:ENSP00000486361", "ENSEMBL:ENSP00000486361.1"], "information_content": 100.0}
{"id": "NCBIGene:23619", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZIM2", "equivalent_identifiers": ["NCBIGene:23619", "ENSEMBL:ENSG00000269699", "HGNC:12875", "UMLS:C1421584", "UniProtKB:A0A8I5KWX0", "ENSEMBL:ENSP00000486502", "ENSEMBL:ENSP00000486502.2", "ENSEMBL:ENSP00000510784", "ENSEMBL:ENSP00000510784.1", "UniProtKB:Q9NZV7", "PR:Q9NZV7", "ENSEMBL:ENSP00000468984", "ENSEMBL:ENSP00000468984.1", "ENSEMBL:ENSP00000470326", "ENSEMBL:ENSP00000470326.1", "ENSEMBL:ENSP00000472306", "ENSEMBL:ENSP00000472306.1", "UMLS:C1309503", "UMLS:C3827392", "MESH:C408894"]}
{"id": "UniProtKB:Q92600-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CCR4-NOT transcription complex subunit 9 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q92600-2", "PR:Q92600-2", "ENSEMBL:ENSP00000486540", "ENSEMBL:ENSP00000486540.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NZ09-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-associated protein 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q9NZ09-4", "PR:Q9NZ09-4", "ENSEMBL:ENSP00000486574", "ENSEMBL:ENSP00000486574.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NSU2-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "three-prime repair exonuclease 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSU2-3", "PR:Q9NSU2-3", "ENSEMBL:ENSP00000486676", "ENSEMBL:ENSP00000486676.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13356-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RING-type E3 ubiquitin-protein ligase PPIL2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13356-2", "PR:Q13356-2", "ENSEMBL:ENSP00000486725", "ENSEMBL:ENSP00000486725.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQB0-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcription factor 7-like 2 isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQB0-7", "PR:Q9NQB0-7", "ENSEMBL:ENSP00000486891", "ENSEMBL:ENSP00000486891.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8TDZ2-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "[F-actin]-monooxygenase MICAL1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8TDZ2-4", "PR:Q8TDZ2-4", "ENSEMBL:ENSP00000486901", "ENSEMBL:ENSP00000486901.1"], "information_content": 100.0}
{"id": "NCBIGene:22837", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COBLL1", "equivalent_identifiers": ["NCBIGene:22837", "ENSEMBL:ENSG00000082438", "HGNC:23571", "OMIM:610318", "UMLS:C1428135", "UniProtKB:A0A0D9SG04", "ENSEMBL:ENSP00000487041", "ENSEMBL:ENSP00000487041.2", "UniProtKB:A0A0X1KG75", "ENSEMBL:ENSP00000387326", "ENSEMBL:ENSP00000387326.5", "UniProtKB:B7Z2P5", "UniProtKB:Q53SF7", "PR:Q53SF7", "UMLS:C3710936", "MESH:C584084"]}
{"id": "NCBIGene:126661", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC163", "equivalent_identifiers": ["NCBIGene:126661", "ENSEMBL:ENSG00000280670", "HGNC:27003", "UMLS:C2828948", "UniProtKB:A0A0D9SF12", "PR:A0A0D9SF12", "ENSEMBL:ENSP00000486197", "ENSEMBL:ENSP00000486197.1", "UniProtKB:A0A0D9SG11", "ENSEMBL:ENSP00000487061", "ENSEMBL:ENSP00000487061.1"]}
{"id": "NCBIGene:388112", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NANOGP8", "equivalent_identifiers": ["NCBIGene:388112", "ENSEMBL:ENSG00000255192", "HGNC:23106", "OMIM:621215", "UMLS:C1427917", "UniProtKB:Q6NSW7", "PR:Q6NSW7", "ENSEMBL:ENSP00000487073", "ENSEMBL:ENSP00000487073.2"], "information_content": 100.0}
{"id": "NCBIGene:92106", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OXNAD1", "equivalent_identifiers": ["NCBIGene:92106", "ENSEMBL:ENSG00000154814", "HGNC:25128", "OMIM:620581", "UMLS:C1826527", "UniProtKB:C9JLB7", "ENSEMBL:ENSP00000389872", "ENSEMBL:ENSP00000389872.2", "ENSEMBL:ENSP00000487136", "ENSEMBL:ENSP00000487136.1", "UniProtKB:Q96HP4", "PR:Q96HP4", "ENSEMBL:ENSP00000285083", "ENSEMBL:ENSP00000285083.5", "ENSEMBL:ENSP00000475547", "ENSEMBL:ENSP00000475547.1"]}
{"id": "UniProtKB:Q8N3P4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 8 homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3P4-1", "PR:Q8N3P4-1", "ENSEMBL:ENSP00000487164", "ENSEMBL:ENSP00000487164.1"], "information_content": 100.0}
{"id": "UniProtKB:O60315-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger E-box-binding homeobox 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60315-1", "PR:O60315-1", "ENSEMBL:ENSP00000386854", "ENSEMBL:ENSP00000386854.2", "ENSEMBL:ENSP00000454157", "ENSEMBL:ENSP00000454157.1", "ENSEMBL:ENSP00000487174", "ENSEMBL:ENSP00000487174.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZN11-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger protein 793 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZN11-1", "PR:Q6ZN11-1", "ENSEMBL:ENSP00000396402", "ENSEMBL:ENSP00000396402.1", "ENSEMBL:ENSP00000468605", "ENSEMBL:ENSP00000468605.1", "ENSEMBL:ENSP00000487183", "ENSEMBL:ENSP00000487183.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z309-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "PABIR family member 2 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z309-3", "PR:Q7Z309-3", "ENSEMBL:ENSP00000487221", "ENSEMBL:ENSP00000487221.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N1K5-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein THEMIS isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q8N1K5-4", "PR:Q8N1K5-4", "ENSEMBL:ENSP00000487358", "ENSEMBL:ENSP00000487358.1"], "information_content": 100.0}
{"id": "UniProtKB:Q92598-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heat shock protein 105 kDa isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q92598-4", "PR:Q92598-4", "ENSEMBL:ENSP00000487365", "ENSEMBL:ENSP00000487365.1"], "information_content": 100.0}
{"id": "NCBIGene:6709", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPTAN1", "equivalent_identifiers": ["NCBIGene:6709", "ENSEMBL:ENSG00000197694", "HGNC:11273", "OMIM:182810", "UMLS:C1420386", "UniProtKB:A0A0D9SF54", "ENSEMBL:ENSP00000486308", "ENSEMBL:ENSP00000486308.1", "UniProtKB:A0A0D9SFF6", "ENSEMBL:ENSP00000486547", "ENSEMBL:ENSP00000486547.2", "ENSEMBL:ENSP00000515765", "ENSEMBL:ENSP00000515765.1", "UniProtKB:A0A0D9SGF6", "ENSEMBL:ENSP00000487444", "ENSEMBL:ENSP00000487444.1", "UniProtKB:A0A384P5S9", "UniProtKB:A0A994J6W3", "ENSEMBL:ENSP00000515764", "ENSEMBL:ENSP00000515764.1", "UniProtKB:Q13813", "PR:Q13813"]}
{"id": "NCBIGene:728361", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OVOL3", "equivalent_identifiers": ["NCBIGene:728361", "ENSEMBL:ENSG00000105261", "HGNC:14186", "OMIM:616442", "UMLS:C3471351", "UniProtKB:O00110", "PR:O00110", "ENSEMBL:ENSP00000487603", "ENSEMBL:ENSP00000487603.1"], "information_content": 100.0}
{"id": "UniProtKB:P48739-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositol transfer protein beta isoform isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P48739-3", "PR:P48739-3", "ENSEMBL:ENSP00000487693", "ENSEMBL:ENSP00000487693.1"], "information_content": 100.0}
{"id": "UniProtKB:P0DMW5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SIL2B_HUMAN Small integral membrane protein 10-like protein 2B (sprot)", "equivalent_identifiers": ["UniProtKB:P0DMW5", "PR:P0DMW5", "ENSEMBL:ENSP00000487709", "ENSEMBL:ENSP00000487709.1"], "information_content": 100.0}
{"id": "NCBIGene:80086", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUBA4B", "equivalent_identifiers": ["NCBIGene:80086", "ENSEMBL:ENSG00000243910", "HGNC:18637", "UMLS:C1425667", "UniProtKB:Q9H853", "PR:Q9H853", "ENSEMBL:ENSP00000487719", "ENSEMBL:ENSP00000487719.1"], "information_content": 90.9}
{"id": "UniProtKB:P16389-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "potassium voltage-gated channel subfamily A member 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P16389-1", "PR:P16389-1", "ENSEMBL:ENSP00000314520", "ENSEMBL:ENSP00000314520.4", "ENSEMBL:ENSP00000433109", "ENSEMBL:ENSP00000433109.1", "ENSEMBL:ENSP00000487785", "ENSEMBL:ENSP00000487785.1", "ENSEMBL:ENSP00000491613", "ENSEMBL:ENSP00000491613.1", "ENSEMBL:ENSP00000491977", "ENSEMBL:ENSP00000491977.1", "ENSEMBL:ENSP00000502642", "ENSEMBL:ENSP00000502642.1"], "information_content": 92.8}
{"id": "NCBIGene:124842", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM132E", "equivalent_identifiers": ["NCBIGene:124842", "ENSEMBL:ENSG00000181291", "HGNC:26991", "OMIM:616178", "UMLS:C1823395", "UniProtKB:Q6IEE7", "PR:Q6IEE7", "ENSEMBL:ENSP00000487800", "ENSEMBL:ENSP00000487800.2", "UMLS:C4077533", "MESH:C000601104"], "information_content": 90.9}
{"id": "UniProtKB:Q9BQK8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidate phosphatase LPIN3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BQK8-2", "PR:Q9BQK8-2", "ENSEMBL:ENSP00000487971", "ENSEMBL:ENSP00000487971.1"], "information_content": 100.0}
{"id": "NCBIGene:100129520", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX13C", "equivalent_identifiers": ["NCBIGene:100129520", "ENSEMBL:ENSG00000282815", "HGNC:52277", "OMIM:301123", "UMLS:C4084984", "UniProtKB:A0A0J9YWL9", "PR:A0A0J9YWL9", "ENSEMBL:ENSP00000488022", "ENSEMBL:ENSP00000488022.1", "ENSEMBL:ENSP00000512212", "ENSEMBL:ENSP00000512212.1", "ENSEMBL:ENSP00000512213", "ENSEMBL:ENSP00000512213.1"], "information_content": 100.0}
{"id": "NCBIGene:389761", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPATA31D4", "equivalent_identifiers": ["NCBIGene:389761", "ENSEMBL:ENSG00000189357", "HGNC:38601", "UMLS:C3147264", "UniProtKB:Q6ZUB0", "PR:Q6ZUB0", "ENSEMBL:ENSP00000488251", "ENSEMBL:ENSP00000488251.1"], "information_content": 95.4}
{"id": "MONDO:0013512", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "HbH hemoglobin", "equivalent_identifiers": ["MONDO:0013512", "DOID:0110031", "OMIM:613978", "orphanet:93616", "UMLS:C3161174", "UMLS:C3279561", "UMLS:C5886847", "MEDDRA:10063433", "MEDDRA:10063434", "MEDDRA:10063435", "MEDDRA:10074051", "NCIT:C95504", "SNOMEDCT:48553001", "medgen:468531", "icd11.foundation:9436211", "HP:0011903"], "information_content": 100.0}
{"id": "NCBIGene:392433", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEB6B", "equivalent_identifiers": ["NCBIGene:392433", "ENSEMBL:ENSG00000232030", "HGNC:28824", "UMLS:C4554976", "UniProtKB:A0A0J9YX57", "PR:A0A0J9YX57", "ENSEMBL:ENSP00000488257", "ENSEMBL:ENSP00000488257.1"], "information_content": 100.0}
{"id": "NCBIGene:441925", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BECN2", "equivalent_identifiers": ["NCBIGene:441925", "ENSEMBL:ENSG00000196289", "HGNC:38606", "OMIM:615687", "UMLS:C3810296", "UniProtKB:A8MW95", "PR:A8MW95", "ENSEMBL:ENSP00000488361", "ENSEMBL:ENSP00000488361.1", "UMLS:C3712212", "MESH:C584110"], "information_content": 100.0}
{"id": "NCBIGene:10659", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CELF2", "equivalent_identifiers": ["NCBIGene:10659", "ENSEMBL:ENSG00000048740", "HGNC:2550", "OMIM:602538", "UMLS:C1413825", "UniProtKB:A0A0J9YX66", "ENSEMBL:ENSP00000488268", "ENSEMBL:ENSP00000488268.1", "UMLS:C0763581", "MESH:C117363", "UniProtKB:A0A0J9YXJ0", "ENSEMBL:ENSP00000488422", "ENSEMBL:ENSP00000488422.1", "UniProtKB:A0A1B0GU44", "ENSEMBL:ENSP00000489955", "ENSEMBL:ENSP00000489955.1", "UniProtKB:A0A1B0GUN8", "ENSEMBL:ENSP00000490185", "ENSEMBL:ENSP00000490185.1", "UniProtKB:B4DDE7", "UniProtKB:B4DIB6", "UniProtKB:B4DT00", "UniProtKB:B4DZ01", "UniProtKB:E9PC62", "ENSEMBL:ENSP00000443926", "ENSEMBL:ENSP00000443926.1", "ENSEMBL:ENSP00000488690", "ENSEMBL:ENSP00000488690.1", "UniProtKB:O95319", "PR:O95319", "UMLS:C3537342"]}
{"id": "NCBIGene:5645", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS2", "equivalent_identifiers": ["NCBIGene:5645", "ENSEMBL:ENSG00000275896", "HGNC:9483", "OMIM:601564", "UMLS:C1418970", "UniProtKB:A0A0J9YYC8", "ENSEMBL:ENSP00000488789", "ENSEMBL:ENSP00000488789.1", "UniProtKB:A6XMV9", "ENSEMBL:ENSP00000488437", "ENSEMBL:ENSP00000488437.1", "UniProtKB:P07478", "PR:P07478", "ENSEMBL:ENSP00000487952", "ENSEMBL:ENSP00000487952.1", "ENSEMBL:ENSP00000488338", "ENSEMBL:ENSP00000488338.1", "UMLS:C0103396", "MESH:C064831", "UniProtKB:Q5NV56", "UniProtKB:Q6PK75"]}
{"id": "NCBIGene:729359", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PLIN4", "equivalent_identifiers": ["NCBIGene:729359", "ENSEMBL:ENSG00000167676", "HGNC:29393", "OMIM:613247", "UMLS:C1428852", "UniProtKB:A0A0J9YXN7", "ENSEMBL:ENSP00000488481", "ENSEMBL:ENSP00000488481.1", "UniProtKB:Q96Q06", "PR:Q96Q06", "ENSEMBL:ENSP00000301286", "ENSEMBL:ENSP00000301286.4"]}
{"id": "UniProtKB:A0A0J9YXS1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A0J9YXS1_HUMAN Kinesin light chain (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A0J9YXS1", "ENSEMBL:ENSP00000488520", "ENSEMBL:ENSP00000488520.1"]}
{"id": "NCBIGene:728637", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MEIKIN", "equivalent_identifiers": ["NCBIGene:728637", "ENSEMBL:ENSG00000239642", "HGNC:51253", "OMIM:616232", "UMLS:C3891013", "UniProtKB:A0A087WXM9", "PR:A0A087WXM9", "ENSEMBL:ENSP00000488568", "ENSEMBL:ENSP00000488568.1"], "information_content": 100.0}
{"id": "NCBIGene:11044", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TENT4A", "equivalent_identifiers": ["NCBIGene:11044", "ENSEMBL:ENSG00000112941", "HGNC:16705", "OMIM:605198", "UMLS:C1424494", "UniProtKB:A0A9H4DBI9", "ENSEMBL:ENSP00000488642", "ENSEMBL:ENSP00000488642.1", "UMLS:C1434282", "MESH:C118146", "UniProtKB:B7ZLL4", "UniProtKB:Q5XG87", "PR:Q5XG87"]}
{"id": "UniProtKB:P0DMW4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SIL2A_HUMAN Small integral membrane protein 10-like protein 2A (sprot)", "equivalent_identifiers": ["UniProtKB:P0DMW4", "PR:P0DMW4", "ENSEMBL:ENSP00000488643", "ENSEMBL:ENSP00000488643.1"], "information_content": 100.0}
{"id": "MONDO:0014395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 2", "equivalent_identifiers": ["MONDO:0014395", "DOID:0060214", "OMIM:615911", "UMLS:C4014648", "medgen:863085"], "information_content": 100.0}
{"id": "UniProtKB:Q5HYW2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NHS-like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5HYW2-1", "PR:Q5HYW2-1", "ENSEMBL:ENSP00000488668", "ENSEMBL:ENSP00000488668.1"], "information_content": 100.0}
{"id": "NCBIGene:100132015", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX13D", "equivalent_identifiers": ["NCBIGene:100132015", "ENSEMBL:ENSG00000282419", "HGNC:52278", "OMIM:301124", "UMLS:C4084983", "UniProtKB:A0A0J9YY54", "PR:A0A0J9YY54", "ENSEMBL:ENSP00000488696", "ENSEMBL:ENSP00000488696.1"], "information_content": 100.0}
{"id": "NCBIGene:100507027", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRLN", "equivalent_identifiers": ["NCBIGene:100507027", "ENSEMBL:ENSG00000227877", "HGNC:48649", "OMIM:616246", "UMLS:C3815103", "UniProtKB:P0DMT0", "PR:P0DMT0", "ENSEMBL:ENSP00000488299", "ENSEMBL:ENSP00000488299.1", "ENSEMBL:ENSP00000488429", "ENSEMBL:ENSP00000488429.1", "ENSEMBL:ENSP00000488584", "ENSEMBL:ENSP00000488584.1", "ENSEMBL:ENSP00000488748", "ENSEMBL:ENSP00000488748.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15165-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "serum paraoxonase/arylesterase 2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q15165-2", "PR:Q15165-2", "ENSEMBL:ENSP00000222572", "ENSEMBL:ENSP00000222572.3", "ENSEMBL:ENSP00000488838", "ENSEMBL:ENSP00000488838.1"], "information_content": 100.0}
{"id": "NCBIGene:100129361", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM10L1", "equivalent_identifiers": ["NCBIGene:100129361", "ENSEMBL:ENSG00000256537", "HGNC:49847", "UMLS:C3889750", "UniProtKB:P0DMW3", "PR:P0DMW3", "ENSEMBL:ENSP00000488907", "ENSEMBL:ENSP00000488907.1", "UMLS:C5772141", "MESH:C000724169"], "information_content": 100.0}
{"id": "MONDO:0017623", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PTEN hamartoma tumor syndrome", "equivalent_identifiers": ["MONDO:0017623", "DOID:0080191", "orphanet:306498", "UMLS:C1959582", "NCIT:C179915", "SNOMEDCT:722859001", "medgen:368366"], "information_content": 83.6}
{"id": "ENSEMBL:ENSP00000488912", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000488912", "equivalent_identifiers": ["ENSEMBL:ENSP00000488912"]}
{"id": "NCBIGene:91050", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC149", "equivalent_identifiers": ["NCBIGene:91050", "ENSEMBL:ENSG00000181982", "HGNC:25405", "UMLS:C2240353", "UniProtKB:A0A0U1RQD2", "ENSEMBL:ENSP00000488929", "ENSEMBL:ENSP00000488929.2", "UniProtKB:A0A8V8PSJ6", "ENSEMBL:ENSP00000425715", "ENSEMBL:ENSP00000425715.2", "UniProtKB:Q6ZUS6", "PR:Q6ZUS6"]}
{"id": "NCBIGene:100287520", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GLYATL1B", "equivalent_identifiers": ["NCBIGene:100287520", "ENSEMBL:ENSG00000255151", "HGNC:37865", "UMLS:C4554848", "UniProtKB:A0A0U1RQE8", "PR:A0A0U1RQE8", "ENSEMBL:ENSP00000488958", "ENSEMBL:ENSP00000488958.1"], "information_content": 100.0}
{"id": "NCBIGene:286430", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NLRP2B", "equivalent_identifiers": ["NCBIGene:286430", "ENSEMBL:ENSG00000215174", "HGNC:29887", "UMLS:C1826436", "UniProtKB:P0DMW2", "PR:P0DMW2", "ENSEMBL:ENSP00000488995", "ENSEMBL:ENSP00000488995.1"], "information_content": 100.0}
{"id": "NCBIGene:105378952", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLF18", "equivalent_identifiers": ["NCBIGene:105378952", "ENSEMBL:ENSG00000283039", "HGNC:51793", "OMIM:621009", "UMLS:C4085146", "UniProtKB:A0A0U1RQI7", "PR:A0A0U1RQI7", "ENSEMBL:ENSP00000489024", "ENSEMBL:ENSP00000489024.1"], "information_content": 100.0}
{"id": "NCBIGene:728819", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C1GALT1C1L", "equivalent_identifiers": ["NCBIGene:728819", "ENSEMBL:ENSG00000223658", "HGNC:51617", "UMLS:C4085288", "UniProtKB:P0DN25", "PR:P0DN25", "ENSEMBL:ENSP00000489061", "ENSEMBL:ENSP00000489061.1"], "information_content": 100.0}
{"id": "NCBIGene:55681", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCYL2", "equivalent_identifiers": ["NCBIGene:55681", "ENSEMBL:ENSG00000136021", "HGNC:19286", "OMIM:616365", "UMLS:C1539735", "UniProtKB:A0A0U1RQQ9", "ENSEMBL:ENSP00000489123", "ENSEMBL:ENSP00000489123.1", "UMLS:C1570729", "MESH:C501863", "UniProtKB:Q6P3W7", "PR:Q6P3W7", "ENSEMBL:ENSP00000354061", "ENSEMBL:ENSP00000354061.2"]}
{"id": "NCBIGene:105378696", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM275", "equivalent_identifiers": ["NCBIGene:105378696", "ENSEMBL:ENSG00000282881", "HGNC:53938", "UMLS:C4762100", "UniProtKB:A0A0U1RQS6", "PR:A0A0U1RQS6", "ENSEMBL:ENSP00000489149", "ENSEMBL:ENSP00000489149.1", "ENSEMBL:ENSP00000513394", "ENSEMBL:ENSP00000513394.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A0U1RQV1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A0U1RQV1_HUMAN Endogenous retrovirus group K3 member 1 (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A0U1RQV1", "ENSEMBL:ENSP00000489180", "ENSEMBL:ENSP00000489180.1"]}
{"id": "MONDO:0000283", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type", "equivalent_identifiers": ["MONDO:0000283", "DOID:0050200"], "information_content": 100.0}
{"id": "UniProtKB:Q99933-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BAG family molecular chaperone regulator 1 isoform BAG-1L (human)", "equivalent_identifiers": ["UniProtKB:Q99933-1", "PR:Q99933-1", "ENSEMBL:ENSP00000489189", "ENSEMBL:ENSP00000489189.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96PZ7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CUB and sushi domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PZ7-1", "PR:Q96PZ7-1", "ENSEMBL:ENSP00000489225", "ENSEMBL:ENSP00000489225.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15413-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ryanodine receptor 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q15413-1", "PR:Q15413-1", "ENSEMBL:ENSP00000489262", "ENSEMBL:ENSP00000489262.1"], "information_content": 100.0}
{"id": "NCBIGene:389857", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CENPVL1", "equivalent_identifiers": ["NCBIGene:389857", "ENSEMBL:ENSG00000223591", "HGNC:31851", "UMLS:C2829146", "UniProtKB:A0A0U1RR11", "PR:A0A0U1RR11", "ENSEMBL:ENSP00000489273", "ENSEMBL:ENSP00000489273.1"], "information_content": 100.0}
{"id": "NCBIGene:23233", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXOC6B", "equivalent_identifiers": ["NCBIGene:23233", "ENSEMBL:ENSG00000144036", "HGNC:17085", "OMIM:607880", "UMLS:C1825079", "UniProtKB:A0A0U1RRB6", "ENSEMBL:ENSP00000489442", "ENSEMBL:ENSP00000489442.1", "UMLS:C1452795", "MESH:C489222", "UniProtKB:Q9Y2D4", "PR:Q9Y2D4"]}
{"id": "UniProtKB:A0A0U1RRJ0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A0U1RRJ0_HUMAN Neurexin 3 (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A0U1RRJ0", "ENSEMBL:ENSP00000489551", "ENSEMBL:ENSP00000489551.2"]}
{"id": "UniProtKB:Q06124-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tyrosine-protein phosphatase non-receptor type 11 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q06124-1", "PR:Q06124-1", "ENSEMBL:ENSP00000489597", "ENSEMBL:ENSP00000489597.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A0U1RRN3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial sheath formation-associated protein isoform Kastor (human)", "equivalent_identifiers": ["UniProtKB:A0A0U1RRN3-1", "PR:A0A0U1RRN3-1", "ENSEMBL:ENSP00000489079", "ENSEMBL:ENSP00000489079.1", "ENSEMBL:ENSP00000489616", "ENSEMBL:ENSP00000489616.1"], "information_content": 100.0}
{"id": "NCBIGene:100507043", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TUNAR", "equivalent_identifiers": ["NCBIGene:100507043", "ENSEMBL:ENSG00000250366", "HGNC:44088", "OMIM:615719", "UMLS:C3541074", "UniProtKB:A0A1B0GTB2", "PR:A0A1B0GTB2", "ENSEMBL:ENSP00000490254", "ENSEMBL:ENSP00000490254.2", "ENSEMBL:ENSP00000498192", "ENSEMBL:ENSP00000498192.1", "ENSEMBL:ENSP00000504015", "ENSEMBL:ENSP00000504015.2", "ENSEMBL:ENSP00000510004", "ENSEMBL:ENSP00000510004.1", "UniProtKB:A0A7I2V4K3", "ENSEMBL:ENSP00000489624", "ENSEMBL:ENSP00000489624.3", "ENSEMBL:ENSP00000504015.1"]}
{"id": "NCBIGene:341032", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POU2AF2", "equivalent_identifiers": ["NCBIGene:341032", "ENSEMBL:ENSG00000150750", "HGNC:30527", "OMIM:620671", "UMLS:C1824319", "UniProtKB:A0A8V8SAS4", "ENSEMBL:ENSP00000489630", "ENSEMBL:ENSP00000489630.1", "UMLS:C5772859", "MESH:C000723694", "UniProtKB:Q8IXP5", "PR:Q8IXP5", "ENSEMBL:ENSP00000280325", "ENSEMBL:ENSP00000280325.6"]}
{"id": "NCBIGene:729852", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UMAD1", "equivalent_identifiers": ["NCBIGene:729852", "ENSEMBL:ENSG00000219545", "HGNC:48955", "UMLS:C3891396", "UniProtKB:C9J7I0", "PR:C9J7I0", "ENSEMBL:ENSP00000489648", "ENSEMBL:ENSP00000489648.1", "ENSEMBL:ENSP00000507605", "ENSEMBL:ENSP00000507605.1"], "information_content": 100.0}
{"id": "NCBIGene:259217", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSPA12A", "equivalent_identifiers": ["NCBIGene:259217", "ENSEMBL:ENSG00000165868", "HGNC:19022", "OMIM:610701", "UMLS:C1425959", "UniProtKB:A0A1B0GTF3", "ENSEMBL:ENSP00000489674", "ENSEMBL:ENSP00000489674.1", "UMLS:C1174942", "MESH:C472130", "UniProtKB:A0A6I8PIT5", "ENSEMBL:ENSP00000501414", "ENSEMBL:ENSP00000501414.1", "ENSEMBL:ENSP00000501417", "ENSEMBL:ENSP00000501417.1", "ENSEMBL:ENSP00000501445", "ENSEMBL:ENSP00000501445.1", "UniProtKB:A0A6I8PLB1", "ENSEMBL:ENSP00000501472", "ENSEMBL:ENSP00000501472.1", "UniProtKB:B7Z2M8", "UniProtKB:O43301", "PR:O43301", "ENSEMBL:ENSP00000358211", "ENSEMBL:ENSP00000358211.3"]}
{"id": "UniProtKB:Q8IVF4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dynein axonemal heavy chain 10 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IVF4-1", "PR:Q8IVF4-1", "ENSEMBL:ENSP00000489675", "ENSEMBL:ENSP00000489675.1"], "information_content": 100.0}
{"id": "NCBIGene:2713", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GK3", "equivalent_identifiers": ["NCBIGene:2713", "ENSEMBL:ENSG00000229894", "HGNC:4292", "OMIM:600149", "UMLS:C1415085", "UniProtKB:Q14409", "PR:Q14409", "ENSEMBL:ENSP00000489687", "ENSEMBL:ENSP00000489687.1"], "information_content": 100.0}
{"id": "NCBIGene:114515518", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC201", "equivalent_identifiers": ["NCBIGene:114515518", "ENSEMBL:ENSG00000283247", "HGNC:54081", "UMLS:C5240641", "UniProtKB:A0A1B0GTI1", "PR:A0A1B0GTI1", "ENSEMBL:ENSP00000489712", "ENSEMBL:ENSP00000489712.1"], "information_content": 100.0}
{"id": "NCBIGene:9228", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DLGAP2", "equivalent_identifiers": ["NCBIGene:9228", "ENSEMBL:ENSG00000198010", "HGNC:2906", "OMIM:605438", "UMLS:C1414068", "UniProtKB:A0A1B0GTN4", "ENSEMBL:ENSP00000489774", "ENSEMBL:ENSP00000489774.1", "UMLS:C1309623", "MESH:C413124"]}
{"id": "NCBIGene:134187", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POU5F2", "equivalent_identifiers": ["NCBIGene:134187", "ENSEMBL:ENSG00000248483", "HGNC:26367", "UMLS:C2239840", "UniProtKB:Q8N7G0", "PR:Q8N7G0", "ENSEMBL:ENSP00000489796", "ENSEMBL:ENSP00000489796.1", "UMLS:C1450692", "MESH:C484176"], "information_content": 100.0}
{"id": "UniProtKB:A0A1B0GTR3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CX05A_HUMAN Uncharacterized protein CXorf51A (sprot)", "equivalent_identifiers": ["UniProtKB:A0A1B0GTR3", "PR:A0A1B0GTR3", "ENSEMBL:ENSP00000489806", "ENSEMBL:ENSP00000489806.1"], "information_content": 100.0}
{"id": "NCBIGene:101927685", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HSFX4", "equivalent_identifiers": ["NCBIGene:101927685", "ENSEMBL:ENSG00000283463", "HGNC:52398", "UMLS:C4320402", "UniProtKB:A0A1B0GTS1", "PR:A0A1B0GTS1", "ENSEMBL:ENSP00000489814", "ENSEMBL:ENSP00000489814.2"], "information_content": 100.0}
{"id": "NCBIGene:773", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CACNA1A", "equivalent_identifiers": ["NCBIGene:773", "ENSEMBL:ENSG00000141837", "HGNC:1388", "OMIM:601011", "UMLS:C1456413", "UniProtKB:A0A087WW63", "ENSEMBL:ENSP00000489829", "ENSEMBL:ENSP00000489829.1", "UniProtKB:B5TYJ1", "ENSEMBL:ENSP00000490578", "ENSEMBL:ENSP00000490578.1", "UniProtKB:O00555", "PR:O00555", "UMLS:C1144186", "MESH:C105656", "UniProtKB:Q9NS89"]}
{"id": "NCBIGene:100507537", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STRIT1", "equivalent_identifiers": ["NCBIGene:100507537", "ENSEMBL:ENSG00000240045", "HGNC:52297", "OMIM:616891", "UMLS:C4761921", "UniProtKB:P0DN84", "PR:P0DN84", "ENSEMBL:ENSP00000489859", "ENSEMBL:ENSP00000489859.1"], "information_content": 100.0}
{"id": "NCBIGene:730159", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX50", "equivalent_identifiers": ["NCBIGene:730159", "ENSEMBL:ENSG00000232113", "HGNC:52382", "UMLS:C4321051", "UniProtKB:A0A1B0GTY4", "PR:A0A1B0GTY4", "ENSEMBL:ENSP00000489890", "ENSEMBL:ENSP00000489890.1"], "information_content": 100.0}
{"id": "NCBIGene:100132304", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM236B", "equivalent_identifiers": ["NCBIGene:100132304", "ENSEMBL:ENSG00000268994", "HGNC:52640", "UMLS:C4320293", "UniProtKB:A0A1B0GV22", "PR:A0A1B0GV22", "ENSEMBL:ENSP00000489894", "ENSEMBL:ENSP00000489894.1"], "information_content": 100.0}
{"id": "NCBIGene:440184", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC196", "equivalent_identifiers": ["NCBIGene:440184", "ENSEMBL:ENSG00000196553", "HGNC:20100", "UMLS:C4554760", "UniProtKB:A0A1B0GTZ2", "PR:A0A1B0GTZ2", "ENSEMBL:ENSP00000489898", "ENSEMBL:ENSP00000489898.1", "UniProtKB:A0A1B0GV15", "ENSEMBL:ENSP00000490335", "ENSEMBL:ENSP00000490335.1", "ENSEMBL:ENSP00000492931", "ENSEMBL:ENSP00000492931.1", "UniProtKB:A0A286YEX8", "ENSEMBL:ENSP00000493058", "ENSEMBL:ENSP00000493058.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5VXM1-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CUB domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5VXM1-3", "PR:Q5VXM1-3", "ENSEMBL:ENSP00000489959", "ENSEMBL:ENSP00000489959.1"], "information_content": 100.0}
{"id": "MONDO:0008199", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "late-onset Parkinson disease", "equivalent_identifiers": ["MONDO:0008199", "DOID:0060892", "OMIM:168600", "orphanet:411602", "UMLS:C3160718", "UMLS:C4274355", "SNOMEDCT:716662004", "medgen:463618"], "information_content": 84.8}
{"id": "NCBIGene:133874", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C5orf58", "equivalent_identifiers": ["NCBIGene:133874", "ENSEMBL:ENSG00000234511", "HGNC:37272", "UMLS:C2828849", "UniProtKB:C9J3I9", "PR:C9J3I9", "ENSEMBL:ENSP00000490013", "ENSEMBL:ENSP00000490013.2"], "information_content": 95.4}
{"id": "MONDO:0003633", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "malignant mesenchymoma", "equivalent_identifiers": ["MONDO:0003633", "DOID:5758", "UMLS:C0334492", "MESH:C535700", "MEDDRA:10025673", "MEDDRA:10025676", "MEDDRA:10025678", "MEDDRA:10061526", "NCIT:C4268", "SNOMEDCT:89623007", "medgen:87252"], "information_content": 92.8}
{"id": "NCBIGene:101928677", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ETDA", "equivalent_identifiers": ["NCBIGene:101928677", "ENSEMBL:ENSG00000238210", "HGNC:53449", "UMLS:C4320281", "UniProtKB:Q3ZM63", "PR:Q3ZM63", "ENSEMBL:ENSP00000490055", "ENSEMBL:ENSP00000490055.1", "ENSEMBL:ENSP00000490960", "ENSEMBL:ENSP00000490960.1"], "information_content": 100.0}
{"id": "MONDO:0001508", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "patulous eustachian tube", "equivalent_identifiers": ["MONDO:0001508", "DOID:12358", "UMLS:C0155434", "MEDDRA:10015546", "MEDDRA:10034163", "SNOMEDCT:30280005", "medgen:509965", "icd11.foundation:1112306780", "ICD10:H69.0", "ICD9:381.7"], "information_content": 100.0}
{"id": "UniProtKB:O75787-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "renin receptor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75787-1", "PR:O75787-1", "ENSEMBL:ENSP00000490083", "ENSEMBL:ENSP00000490083.1"], "information_content": 100.0}
{"id": "NCBIGene:401397", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM30", "equivalent_identifiers": ["NCBIGene:401397", "ENSEMBL:ENSG00000214194", "HGNC:48953", "UMLS:C4555129", "UniProtKB:A4D0T7", "PR:A4D0T7", "ENSEMBL:ENSP00000490064", "ENSEMBL:ENSP00000490064.1", "ENSEMBL:ENSP00000490095", "ENSEMBL:ENSP00000490095.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99250-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium channel protein type 2 subunit alpha isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q99250-2", "PR:Q99250-2", "ENSEMBL:ENSP00000486885", "ENSEMBL:ENSP00000486885.1", "ENSEMBL:ENSP00000490107", "ENSEMBL:ENSP00000490107.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96JN0-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ligand-dependent corepressor isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q96JN0-3", "PR:Q96JN0-3", "ENSEMBL:ENSP00000490116", "ENSEMBL:ENSP00000490116.2"], "information_content": 100.0}
{"id": "NCBIGene:253959", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RALGAPA1", "equivalent_identifiers": ["NCBIGene:253959", "ENSEMBL:ENSG00000174373", "HGNC:17770", "OMIM:608884", "UMLS:C1425072", "UniProtKB:A0A1B0GUI1", "ENSEMBL:ENSP00000490119", "ENSEMBL:ENSP00000490119.1", "UniProtKB:A0A7P0TAR5", "ENSEMBL:ENSP00000506280", "ENSEMBL:ENSP00000506280.1", "UniProtKB:H0YJB5", "ENSEMBL:ENSP00000451133", "ENSEMBL:ENSP00000451133.2", "UniProtKB:Q6GYQ0", "PR:Q6GYQ0", "UMLS:C1531253", "MESH:C495326"]}
{"id": "NCBIGene:101929726", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYMX", "equivalent_identifiers": ["NCBIGene:101929726", "ENSEMBL:ENSG00000262179", "HGNC:52391", "OMIM:619912", "UMLS:C4554992", "UniProtKB:A0A1B0GTQ4", "PR:A0A1B0GTQ4", "ENSEMBL:ENSP00000489797", "ENSEMBL:ENSP00000489797.1", "ENSEMBL:ENSP00000490143", "ENSEMBL:ENSP00000490143.1", "UMLS:C5391773", "MESH:C000707228"], "information_content": 100.0}
{"id": "NCBIGene:100996758", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NPY4R2", "equivalent_identifiers": ["NCBIGene:100996758", "ENSEMBL:ENSG00000264717", "HGNC:52383", "UMLS:C4320600", "UniProtKB:P0DQD5", "PR:P0DQD5", "ENSEMBL:ENSP00000489924", "ENSEMBL:ENSP00000489924.1", "ENSEMBL:ENSP00000490174", "ENSEMBL:ENSP00000490174.1", "ENSEMBL:ENSP00000499999", "ENSEMBL:ENSP00000499999.1", "ENSEMBL:ENSP00000500673", "ENSEMBL:ENSP00000500673.1"], "information_content": 100.0}
{"id": "NCBIGene:387723", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C10orf143", "equivalent_identifiers": ["NCBIGene:387723", "ENSEMBL:ENSG00000237489", "HGNC:48677", "UMLS:C4554753", "UniProtKB:A0A1B0GUT2", "PR:A0A1B0GUT2", "ENSEMBL:ENSP00000490233", "ENSEMBL:ENSP00000490233.1"], "information_content": 100.0}
{"id": "NCBIGene:128611", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF831", "equivalent_identifiers": ["NCBIGene:128611", "ENSEMBL:ENSG00000124203", "HGNC:16167", "UMLS:C1424044", "UniProtKB:Q5JPB2", "PR:Q5JPB2", "ENSEMBL:ENSP00000360069", "ENSEMBL:ENSP00000360069.2", "ENSEMBL:ENSP00000490240", "ENSEMBL:ENSP00000490240.1"], "information_content": 100.0}
{"id": "NCBIGene:107983988", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPEM3", "equivalent_identifiers": ["NCBIGene:107983988", "ENSEMBL:ENSG00000283439", "HGNC:53651", "UMLS:C4555143", "UniProtKB:A0A1B0GUW6", "PR:A0A1B0GUW6", "ENSEMBL:ENSP00000490274", "ENSEMBL:ENSP00000490274.1", "ENSEMBL:ENSP00000491037", "ENSEMBL:ENSP00000491037.1"], "information_content": 100.0}
{"id": "NCBIGene:80316", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PPP1R2C", "equivalent_identifiers": ["NCBIGene:80316", "ENSEMBL:ENSG00000102055", "HGNC:16324", "OMIM:301017", "UMLS:C1424188", "UniProtKB:O14990", "PR:O14990", "ENSEMBL:ENSP00000490336", "ENSEMBL:ENSP00000490336.1"], "information_content": 100.0}
{"id": "NCBIGene:100129407", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM236A", "equivalent_identifiers": ["NCBIGene:100129407", "ENSEMBL:ENSG00000275520", "HGNC:44268", "UMLS:C4320292", "UniProtKB:A0A1B0GUQ0", "PR:A0A1B0GUQ0", "ENSEMBL:ENSP00000490343", "ENSEMBL:ENSP00000490343.2", "UniProtKB:A0A1X7SCG6", "ENSEMBL:ENSP00000490197", "ENSEMBL:ENSP00000490197.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXS0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C-type lectin domain family 19 member A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXS0-1", "PR:Q6UXS0-1", "ENSEMBL:ENSP00000490375", "ENSEMBL:ENSP00000490375.1"], "information_content": 100.0}
{"id": "NCBIGene:146705", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEPSIN", "equivalent_identifiers": ["NCBIGene:146705", "ENSEMBL:ENSG00000167302", "HGNC:26458", "UMLS:C1824448", "UniProtKB:A0A1B0GV70", "ENSEMBL:ENSP00000490393", "ENSEMBL:ENSP00000490393.1", "UniProtKB:Q96N21", "PR:Q96N21"]}
{"id": "NCBIGene:107986818", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FAM237B", "equivalent_identifiers": ["NCBIGene:107986818", "ENSEMBL:ENSG00000283267", "HGNC:53217", "UMLS:C4320296", "UniProtKB:A0A1B0GVD1", "PR:A0A1B0GVD1", "ENSEMBL:ENSP00000490466", "ENSEMBL:ENSP00000490466.1", "ENSEMBL:ENSP00000509180", "ENSEMBL:ENSP00000509180.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NFD5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AT-rich interactive domain-containing protein 1B isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q8NFD5-3", "PR:Q8NFD5-3", "ENSEMBL:ENSP00000490491", "ENSEMBL:ENSP00000490491.2"], "information_content": 100.0}
{"id": "NCBIGene:647166", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C13orf42", "equivalent_identifiers": ["NCBIGene:647166", "ENSEMBL:ENSG00000226792", "HGNC:42693", "UMLS:C4554755", "UniProtKB:A0A1B0GVH6", "PR:A0A1B0GVH6", "ENSEMBL:ENSP00000490517", "ENSEMBL:ENSP00000490517.1"], "information_content": 100.0}
{"id": "NCBIGene:285423", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IQCM", "equivalent_identifiers": ["NCBIGene:285423", "ENSEMBL:ENSG00000234828", "HGNC:53443", "UMLS:C4320410", "UniProtKB:A0A1B0GUF7", "ENSEMBL:ENSP00000490088", "ENSEMBL:ENSP00000490088.1", "UniProtKB:A0A1B0GVH7", "PR:A0A1B0GVH7", "ENSEMBL:ENSP00000490518", "ENSEMBL:ENSP00000490518.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A1B0GVM2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A1B0GVM2_HUMAN TRPM8 channel associated factor 2C (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A1B0GVM2", "ENSEMBL:ENSP00000490573", "ENSEMBL:ENSP00000490573.1"]}
{"id": "NCBIGene:643037", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C11orf97", "equivalent_identifiers": ["NCBIGene:643037", "ENSEMBL:ENSG00000257057", "HGNC:49544", "UMLS:C3811539", "UniProtKB:A0A1B0GVM6", "PR:A0A1B0GVM6", "ENSEMBL:ENSP00000490577", "ENSEMBL:ENSP00000490577.1"], "information_content": 100.0}
{"id": "NCBIGene:728586", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CCDC192", "equivalent_identifiers": ["NCBIGene:728586", "ENSEMBL:ENSG00000230561", "HGNC:49566", "UMLS:C3815291", "UniProtKB:A0A9S7N7Z0", "ENSEMBL:ENSP00000490579", "ENSEMBL:ENSP00000490579.2", "UniProtKB:P0DO97", "PR:P0DO97", "ENSEMBL:ENSP00000516662", "ENSEMBL:ENSP00000516662.1"]}
{"id": "NCBIGene:257000", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TINCR", "equivalent_identifiers": ["NCBIGene:257000", "ENSEMBL:ENSG00000223573", "HGNC:14607", "OMIM:615241", "UMLS:C1422787", "UniProtKB:A0A1B0GTR7", "ENSEMBL:ENSP00000489810", "ENSEMBL:ENSP00000489810.2", "ENSEMBL:ENSP00000490584", "ENSEMBL:ENSP00000490584.1", "UniProtKB:A0A2R8Y7D0", "PR:A0A2R8Y7D0", "ENSEMBL:ENSP00000496189", "ENSEMBL:ENSP00000496189.1"]}
{"id": "NCBIGene:728537", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C2orf92", "equivalent_identifiers": ["NCBIGene:728537", "ENSEMBL:ENSG00000228486", "HGNC:49272", "UMLS:C4554748", "UniProtKB:A0A1B0GVN3", "PR:A0A1B0GVN3", "ENSEMBL:ENSP00000490587", "ENSEMBL:ENSP00000490587.1", "ENSEMBL:ENSP00000517085", "ENSEMBL:ENSP00000517085.1", "UniProtKB:A0A1B0GW88", "ENSEMBL:ENSP00000490827", "ENSEMBL:ENSP00000490827.1", "ENSEMBL:ENSP00000517086", "ENSEMBL:ENSP00000517086.1"], "information_content": 100.0}
{"id": "NCBIGene:1641", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCX", "equivalent_identifiers": ["NCBIGene:1641", "ENSEMBL:ENSG00000077279", "HGNC:2714", "OMIM:300121", "UMLS:C1413938", "UniProtKB:A0A1B0GWD1", "ENSEMBL:ENSP00000490878", "ENSEMBL:ENSP00000490878.1", "UniProtKB:A0A7P0T9C5", "ENSEMBL:ENSP00000505501", "ENSEMBL:ENSP00000505501.1", "UniProtKB:A0A804CF28", "ENSEMBL:ENSP00000361061", "ENSEMBL:ENSP00000361061.3", "UniProtKB:A8K340", "ENSEMBL:ENSP00000348553", "ENSEMBL:ENSP00000348553.4", "ENSEMBL:ENSP00000490357", "ENSEMBL:ENSP00000490357.1", "ENSEMBL:ENSP00000490614", "ENSEMBL:ENSP00000490614.1", "UniProtKB:O43602", "PR:O43602", "UMLS:C2698456", "MESH:C000714328"]}
{"id": "NCBIGene:101929989", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LITAFD", "equivalent_identifiers": ["NCBIGene:101929989", "ENSEMBL:ENSG00000283516", "HGNC:53927", "UMLS:C5240839", "UniProtKB:A0A1B0GVX0", "ENSEMBL:ENSP00000490446", "ENSEMBL:ENSP00000490446.1", "ENSEMBL:ENSP00000490685", "ENSEMBL:ENSP00000490685.1", "ENSEMBL:ENSP00000520917", "ENSEMBL:ENSP00000520917.1", "ENSEMBL:ENSP00000520918", "ENSEMBL:ENSP00000520918.1"]}
{"id": "NCBIGene:100129924", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM269", "equivalent_identifiers": ["NCBIGene:100129924", "ENSEMBL:ENSG00000274386", "HGNC:52381", "UMLS:C4321061", "UniProtKB:A0A1B0GVZ9", "PR:A0A1B0GVZ9", "ENSEMBL:ENSP00000490213", "ENSEMBL:ENSP00000490213.1", "ENSEMBL:ENSP00000490287", "ENSEMBL:ENSP00000490287.1", "ENSEMBL:ENSP00000490716", "ENSEMBL:ENSP00000490716.2"], "information_content": 100.0}
{"id": "UniProtKB:Q8TES7-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Fas-binding factor 1 isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q8TES7-6", "PR:Q8TES7-6", "ENSEMBL:ENSP00000490726", "ENSEMBL:ENSP00000490726.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A1B0GW23", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A1B0GW23_HUMAN Aminoacylase-1 (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A1B0GW23", "ENSEMBL:ENSP00000490744", "ENSEMBL:ENSP00000490744.1"]}
{"id": "NCBIGene:644145", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EXOC1L", "equivalent_identifiers": ["NCBIGene:644145", "ENSEMBL:ENSG00000250821", "HGNC:53433", "UMLS:C4554835", "UniProtKB:A0A1B0GW35", "PR:A0A1B0GW35", "ENSEMBL:ENSP00000490760", "ENSEMBL:ENSP00000490760.1"], "information_content": 100.0}
{"id": "NCBIGene:84289", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ING5", "equivalent_identifiers": ["NCBIGene:84289", "ENSEMBL:ENSG00000168395", "HGNC:19421", "OMIM:608525", "UMLS:C1426232", "UniProtKB:A0A1B0GW41", "ENSEMBL:ENSP00000490767", "ENSEMBL:ENSP00000490767.1", "UMLS:C1258988", "MESH:C508131", "UniProtKB:Q8WYH8", "PR:Q8WYH8"]}
{"id": "NCBIGene:646000", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC35G4", "equivalent_identifiers": ["NCBIGene:646000", "ENSEMBL:ENSG00000236396", "HGNC:31043", "UMLS:C3889756", "UniProtKB:P0C7Q5", "PR:P0C7Q5", "ENSEMBL:ENSP00000490812", "ENSEMBL:ENSP00000490812.1"], "information_content": 100.0}
{"id": "UniProtKB:W5XKT8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sperm acrosome membrane-associated protein 6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:W5XKT8-1", "PR:W5XKT8-1", "ENSEMBL:ENSP00000490829", "ENSEMBL:ENSP00000490829.1"], "information_content": 100.0}
{"id": "NCBIGene:642515", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRRT1B", "equivalent_identifiers": ["NCBIGene:642515", "ENSEMBL:ENSG00000283526", "HGNC:53642", "UMLS:C4555061", "UniProtKB:A0A1B0GWB2", "PR:A0A1B0GWB2", "ENSEMBL:ENSP00000490857", "ENSEMBL:ENSP00000490857.1"], "information_content": 100.0}
{"id": "NCBIGene:400797", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLEC20A", "equivalent_identifiers": ["NCBIGene:400797", "ENSEMBL:ENSG00000188585", "HGNC:34521", "UMLS:C3470572", "UniProtKB:Q6ZU45", "PR:Q6ZU45", "ENSEMBL:ENSP00000490899", "ENSEMBL:ENSP00000490899.1"], "information_content": 100.0}
{"id": "NCBIGene:284697", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BTBD8", "equivalent_identifiers": ["NCBIGene:284697", "ENSEMBL:ENSG00000189195", "HGNC:21019", "OMIM:617945", "UMLS:C1427247", "UniProtKB:A0A8V8SD95", "ENSEMBL:ENSP00000490913", "ENSEMBL:ENSP00000490913.1", "UMLS:C1435709", "MESH:C482528", "UniProtKB:B4DYL8", "UniProtKB:Q5XKL5", "PR:Q5XKL5"]}
{"id": "NCBIGene:3433", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IFIT2", "equivalent_identifiers": ["NCBIGene:3433", "ENSEMBL:ENSG00000119922", "HGNC:5409", "OMIM:147040", "UMLS:C1415894", "UniProtKB:P09913", "PR:P09913", "ENSEMBL:ENSP00000360891", "ENSEMBL:ENSP00000360891.3", "ENSEMBL:ENSP00000490935", "ENSEMBL:ENSP00000490935.1", "ENSEMBL:ENSP00000505033", "ENSEMBL:ENSP00000505033.1", "ENSEMBL:ENSP00000506255", "ENSEMBL:ENSP00000506255.1", "UMLS:C1434528", "MESH:C484289", "UniProtKB:Q05DN2"], "information_content": 92.8}
{"id": "NCBIGene:23229", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGEF9", "equivalent_identifiers": ["NCBIGene:23229", "ENSEMBL:ENSG00000131089", "HGNC:14561", "OMIM:300429", "UMLS:C1422758", "UniProtKB:A0A1B0GWI5", "ENSEMBL:ENSP00000490940", "ENSEMBL:ENSP00000490940.1", "UniProtKB:A0A5F9ZHY9", "ENSEMBL:ENSP00000500715", "ENSEMBL:ENSP00000500715.1", "UniProtKB:A0A5F9ZI31", "ENSEMBL:ENSP00000500825", "ENSEMBL:ENSP00000500825.1", "UniProtKB:B1AMR3", "ENSEMBL:ENSP00000364006", "ENSEMBL:ENSP00000364006.1", "ENSEMBL:ENSP00000485144", "ENSEMBL:ENSP00000485144.1", "ENSEMBL:ENSP00000485282", "ENSEMBL:ENSP00000485282.2", "ENSEMBL:ENSP00000489637", "ENSEMBL:ENSP00000489637.2", "ENSEMBL:ENSP00000489853", "ENSEMBL:ENSP00000489853.1", "ENSEMBL:ENSP00000489862", "ENSEMBL:ENSP00000489862.1", "ENSEMBL:ENSP00000490063", "ENSEMBL:ENSP00000490063.1", "ENSEMBL:ENSP00000490123", "ENSEMBL:ENSP00000490123.1", "ENSEMBL:ENSP00000490269", "ENSEMBL:ENSP00000490269.1", "ENSEMBL:ENSP00000490679", "ENSEMBL:ENSP00000490679.1", "ENSEMBL:ENSP00000490691", "ENSEMBL:ENSP00000490691.1", "UMLS:C3711590", "MESH:C577410", "UniProtKB:O43307", "PR:O43307"]}
{"id": "UniProtKB:Q96PC5-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "melanoma inhibitory activity protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PC5-3", "PR:Q96PC5-3", "ENSEMBL:ENSP00000491014", "ENSEMBL:ENSP00000491014.1"], "information_content": 100.0}
{"id": "UniProtKB:A6NNM8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tubulin polyglutamylase TTLL13 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6NNM8-1", "PR:A6NNM8-1", "ENSEMBL:ENSP00000491066", "ENSEMBL:ENSP00000491066.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NC96-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adaptin ear-binding coat-associated protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NC96-1", "PR:Q8NC96-1", "ENSEMBL:ENSP00000341737", "ENSEMBL:ENSP00000341737.5", "ENSEMBL:ENSP00000491067", "ENSEMBL:ENSP00000491067.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A1W2PNV4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A1W2PNV4_HUMAN Actin-related protein 2/3 complex subunit 1A (trembl)", "equivalent_identifiers": ["UniProtKB:A0A1W2PNV4", "ENSEMBL:ENSP00000491073", "ENSEMBL:ENSP00000491073.1"]}
{"id": "UniProtKB:Q00839-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "heterogeneous nuclear ribonucleoprotein U isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q00839-1", "PR:Q00839-1", "ENSEMBL:ENSP00000491215", "ENSEMBL:ENSP00000491215.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A1W2PP11", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A1W2PP11_HUMAN Presenilin-associated rhomboid-like protein, mitochondrial (trembl)", "equivalent_identifiers": ["UniProtKB:A0A1W2PP11", "ENSEMBL:ENSP00000491227", "ENSEMBL:ENSP00000491227.1"]}
{"id": "NCBIGene:100288842", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B3GALT9", "equivalent_identifiers": ["NCBIGene:100288842", "ENSEMBL:ENSG00000214654", "HGNC:53652", "OMIM:620239", "UMLS:C5445495", "UniProtKB:A8MXE2", "PR:A8MXE2", "ENSEMBL:ENSP00000491256", "ENSEMBL:ENSP00000491256.1", "ENSEMBL:ENSP00000508889", "ENSEMBL:ENSP00000508889.1"], "information_content": 95.4}
{"id": "NCBIGene:400736", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRAMEF13", "equivalent_identifiers": ["NCBIGene:400736", "ENSEMBL:ENSG00000279169", "HGNC:13262", "UMLS:C1826685", "UniProtKB:A0A1W2PPB9", "ENSEMBL:ENSP00000491071", "ENSEMBL:ENSP00000491071.1", "ENSEMBL:ENSP00000491482", "ENSEMBL:ENSP00000491482.1", "UniProtKB:Q5VWM6", "PR:Q5VWM6", "ENSEMBL:ENSP00000491259", "ENSEMBL:ENSP00000491259.1", "ENSEMBL:ENSP00000492522", "ENSEMBL:ENSP00000492522.1"], "information_content": 100.0}
{"id": "MONDO:0005941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retroperitoneal cancer", "equivalent_identifiers": ["MONDO:0005941", "DOID:5875", "EFO:0007466", "UMLS:C0153464", "UMLS:C0153465", "MESH:D012186", "MEDDRA:10026441", "MEDDRA:10038977", "NCIT:C3537", "SNOMEDCT:126872008", "SNOMEDCT:187801002", "SNOMEDCT:363420003", "medgen:57559", "ICD10:C48", "ICD10:C48.0", "ICD9:158", "ICD9:158.0"], "information_content": 71.2}
{"id": "MONDO:0002142", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "undifferentiated pleomorphic sarcoma", "equivalent_identifiers": ["MONDO:0002142", "DOID:1907", "orphanet:2023", "EFO:1001972", "UMLS:C0279546", "UMLS:C0334463", "MESH:D051677", "MEDDRA:10016665", "MEDDRA:10025552", "MEDDRA:10025553", "MEDDRA:10025556", "MEDDRA:10025562", "MEDDRA:10087873", "NCIT:C114541", "NCIT:C4247", "SNOMEDCT:34360000", "SNOMEDCT:443439001", "medgen:87248"], "information_content": 78.8}
{"id": "NCBIGene:100033411", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUXB", "equivalent_identifiers": ["NCBIGene:100033411", "ENSEMBL:ENSG00000282757", "HGNC:33345", "OMIM:618698", "UMLS:C2239362", "UniProtKB:A0A1W2PPF3", "PR:A0A1W2PPF3", "ENSEMBL:ENSP00000491301", "ENSEMBL:ENSP00000491301.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNP4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lactosylceramide alpha-2,3-sialyltransferase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNP4-1", "PR:Q9UNP4-1", "ENSEMBL:ENSP00000491316", "ENSEMBL:ENSP00000491316.1"], "information_content": 100.0}
{"id": "NCBIGene:391714", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM75", "equivalent_identifiers": ["NCBIGene:391714", "ENSEMBL:ENSG00000250374", "HGNC:32686", "UMLS:C3812041", "UniProtKB:A6NK02", "PR:A6NK02", "ENSEMBL:ENSP00000491320", "ENSEMBL:ENSP00000491320.1"], "information_content": 95.4}
{"id": "NCBIGene:23507", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC8B", "equivalent_identifiers": ["NCBIGene:23507", "ENSEMBL:ENSG00000197147", "HGNC:30692", "OMIM:612888", "UMLS:C1825877", "UniProtKB:A0A384N5V6", "UMLS:C4705158", "MESH:C000626405", "UniProtKB:Q6P9F7", "PR:Q6P9F7", "ENSEMBL:ENSP00000332674", "ENSEMBL:ENSP00000332674.2", "ENSEMBL:ENSP00000491377", "ENSEMBL:ENSP00000491377.1", "ENSEMBL:ENSP00000492151", "ENSEMBL:ENSP00000492151.1"], "information_content": 92.8}
{"id": "NCBIGene:203522", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INTS6L", "equivalent_identifiers": ["NCBIGene:203522", "ENSEMBL:ENSG00000165359", "HGNC:27334", "UMLS:C1539232", "UniProtKB:A0A1W2PPI5", "ENSEMBL:ENSP00000491427", "ENSEMBL:ENSP00000491427.1", "UniProtKB:Q5JSJ4", "PR:Q5JSJ4"]}
{"id": "NCBIGene:100507096", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GIMD1", "equivalent_identifiers": ["NCBIGene:100507096", "ENSEMBL:ENSG00000250298", "HGNC:44141", "UMLS:C3539394", "UniProtKB:P0DJR0", "PR:P0DJR0", "ENSEMBL:ENSP00000489975", "ENSEMBL:ENSP00000489975.1", "ENSEMBL:ENSP00000491450", "ENSEMBL:ENSP00000491450.2"], "information_content": 100.0}
{"id": "UniProtKB:P0DP72", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "VSXL2_HUMAN V-set and immunoglobulin domain-containing protein 10-like 2 (sprot)", "equivalent_identifiers": ["UniProtKB:P0DP72", "PR:P0DP72", "ENSEMBL:ENSP00000491467", "ENSEMBL:ENSP00000491467.1"], "information_content": 100.0}
{"id": "UniProtKB:Q674R7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "autophagy-related protein 9B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q674R7-1", "PR:Q674R7-1", "ENSEMBL:ENSP00000475737", "ENSEMBL:ENSP00000475737.2", "ENSEMBL:ENSP00000479879", "ENSEMBL:ENSP00000479879.1", "ENSEMBL:ENSP00000491504", "ENSEMBL:ENSP00000491504.1"], "information_content": 100.0}
{"id": "UniProtKB:Q86VV8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "rotatin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q86VV8-1", "PR:Q86VV8-1", "ENSEMBL:ENSP00000491507", "ENSEMBL:ENSP00000491507.1"], "information_content": 100.0}
{"id": "NCBIGene:2222", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FDFT1", "equivalent_identifiers": ["NCBIGene:2222", "ENSEMBL:ENSG00000079459", "HGNC:3629", "OMIM:184420", "UMLS:C1414563", "UniProtKB:A0A1W2PQ47", "ENSEMBL:ENSP00000491537", "ENSEMBL:ENSP00000491537.1", "UniProtKB:B4DND3", "ENSEMBL:ENSP00000518481", "ENSEMBL:ENSP00000518481.1", "UniProtKB:B4DWP0", "UniProtKB:B7Z9R8", "UniProtKB:P37268", "PR:P37268", "UniProtKB:Q6IAX1"]}
{"id": "UniProtKB:Q8N4Z0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-related protein Rab-42 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4Z0-2", "PR:Q8N4Z0-2", "ENSEMBL:ENSP00000491546", "ENSEMBL:ENSP00000491546.1"], "information_content": 100.0}
{"id": "NCBIGene:390937", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ERFL", "equivalent_identifiers": ["NCBIGene:390937", "ENSEMBL:ENSG00000268041", "HGNC:53894", "UMLS:C5241016", "UniProtKB:A0A1W2PQ73", "PR:A0A1W2PQ73", "ENSEMBL:ENSP00000491574", "ENSEMBL:ENSP00000491574.1"], "information_content": 100.0}
{"id": "MONDO:0005614", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pancreatic adenosquamous carcinoma", "equivalent_identifiers": ["MONDO:0005614", "DOID:5637", "EFO:0006732", "UMLS:C1335299", "NCIT:C5721", "medgen:277489"], "information_content": 90.9}
{"id": "UniProtKB:A0A1W2PPQ1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A1W2PPQ1_HUMAN Glycine cleavage system H protein (trembl)", "equivalent_identifiers": ["UniProtKB:A0A1W2PPQ1", "ENSEMBL:ENSP00000491651", "ENSEMBL:ENSP00000491651.1", "ENSEMBL:ENSP00000517632", "ENSEMBL:ENSP00000517632.1"]}
{"id": "UniProtKB:Q96M83-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96M83-1", "PR:Q96M83-1", "ENSEMBL:ENSP00000491655", "ENSEMBL:ENSP00000491655.1"], "information_content": 100.0}
{"id": "NCBIGene:25858", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CATSPERZ", "equivalent_identifiers": ["NCBIGene:25858", "ENSEMBL:ENSG00000219435", "HGNC:19231", "OMIM:617511", "UMLS:C2700596", "UniProtKB:Q9NTU4", "PR:Q9NTU4", "ENSEMBL:ENSP00000491717", "ENSEMBL:ENSP00000491717.1", "UMLS:C3640104", "UMLS:C3886261", "MESH:C000592242"], "information_content": 100.0}
{"id": "NCBIGene:102723547", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CSAG2", "equivalent_identifiers": ["NCBIGene:102723547", "ENSEMBL:ENSG00000268902", "HGNC:16847", "OMIM:301096", "UMLS:C1539141", "UniProtKB:A0A1W2PPV0", "ENSEMBL:ENSP00000491733", "ENSEMBL:ENSP00000491733.1", "UniProtKB:A0A1W2PQG5", "ENSEMBL:ENSP00000491720", "ENSEMBL:ENSP00000491720.1"]}
{"id": "NCBIGene:100533467", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BIVM-ERCC5", "equivalent_identifiers": ["NCBIGene:100533467", "ENSEMBL:ENSG00000270181", "HGNC:43690", "UMLS:C3816855", "UniProtKB:Q59FZ7", "UniProtKB:R4GMW8", "ENSEMBL:ENSP00000491742", "ENSEMBL:ENSP00000491742.1"]}
{"id": "UniProtKB:A0A1W2PPV4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A1W2PPV4_HUMAN PAC domain-containing protein (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A1W2PPV4", "ENSEMBL:ENSP00000491750", "ENSEMBL:ENSP00000491750.1"]}
{"id": "NCBIGene:9877", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZC3H11A", "equivalent_identifiers": ["NCBIGene:9877", "ENSEMBL:ENSG00000058673", "HGNC:29093", "OMIM:613513", "UMLS:C1823922", "UniProtKB:O75152", "PR:O75152", "ENSEMBL:ENSP00000333253", "ENSEMBL:ENSP00000333253.4", "ENSEMBL:ENSP00000356179", "ENSEMBL:ENSP00000356179.1", "ENSEMBL:ENSP00000356181", "ENSEMBL:ENSP00000356181.3", "ENSEMBL:ENSP00000356183", "ENSEMBL:ENSP00000356183.1", "ENSEMBL:ENSP00000491830", "ENSEMBL:ENSP00000491830.1", "UMLS:C3889403", "UMLS:C4742637", "MESH:C000628096"], "information_content": 95.4}
{"id": "UniProtKB:P0CL80-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "G antigen 12F isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0CL80-1", "PR:P0CL80-1", "ENSEMBL:ENSP00000404123", "ENSEMBL:ENSP00000404123.1", "ENSEMBL:ENSP00000491865", "ENSEMBL:ENSP00000491865.1"], "information_content": 100.0}
{"id": "NCBIGene:646951", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MINDY4B", "equivalent_identifiers": ["NCBIGene:646951", "ENSEMBL:ENSG00000214237", "HGNC:35475", "UMLS:C4320456", "UniProtKB:A8MYZ0", "PR:A8MYZ0", "ENSEMBL:ENSP00000491923", "ENSEMBL:ENSP00000491923.1"], "information_content": 100.0}
{"id": "NCBIGene:5209", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PFKFB3", "equivalent_identifiers": ["NCBIGene:5209", "ENSEMBL:ENSG00000170525", "HGNC:8874", "OMIM:605319", "UMLS:C1418489", "UniProtKB:A0A1W2PR17", "ENSEMBL:ENSP00000492001", "ENSEMBL:ENSP00000492001.1", "UniProtKB:B7Z8A0", "UMLS:C1571493", "MESH:C107345", "UniProtKB:Q16875", "PR:Q16875", "UMLS:C3539535"]}
{"id": "UniProtKB:P26367-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "paired box protein Pax-6 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P26367-2", "PR:P26367-2", "ENSEMBL:ENSP00000368401", "ENSEMBL:ENSP00000368401.2", "ENSEMBL:ENSP00000368424", "ENSEMBL:ENSP00000368424.2", "ENSEMBL:ENSP00000404100", "ENSEMBL:ENSP00000404100.1", "ENSEMBL:ENSP00000480026", "ENSEMBL:ENSP00000480026.1", "ENSEMBL:ENSP00000491872", "ENSEMBL:ENSP00000491872.1", "ENSEMBL:ENSP00000492024", "ENSEMBL:ENSP00000492024.1", "ENSEMBL:ENSP00000492315", "ENSEMBL:ENSP00000492315.2", "ENSEMBL:ENSP00000492476", "ENSEMBL:ENSP00000492476.1"], "information_content": 100.0}
{"id": "NCBIGene:360226", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRSS41", "equivalent_identifiers": ["NCBIGene:360226", "ENSEMBL:ENSG00000215148", "HGNC:30715", "UMLS:C2828570", "UniProtKB:A0A6I8PU99", "ENSEMBL:ENSP00000501492", "ENSEMBL:ENSP00000501492.1", "UniProtKB:A0A6Q8NYF4", "ENSEMBL:ENSP00000492058", "ENSEMBL:ENSP00000492058.2", "UniProtKB:Q7RTY9", "PR:Q7RTY9"]}
{"id": "NCBIGene:105371045", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PERCC1", "equivalent_identifiers": ["NCBIGene:105371045", "ENSEMBL:ENSG00000284395", "HGNC:52293", "OMIM:618656", "UMLS:C5231446", "UniProtKB:A0A1W2PR82", "PR:A0A1W2PR82", "ENSEMBL:ENSP00000492108", "ENSEMBL:ENSP00000492108.2"], "information_content": 100.0}
{"id": "NCBIGene:23556", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIGN", "equivalent_identifiers": ["NCBIGene:23556", "ENSEMBL:ENSG00000197563", "HGNC:8967", "OMIM:606097", "UMLS:C1418568", "UniProtKB:A0A1W2PNR0", "ENSEMBL:ENSP00000491013", "ENSEMBL:ENSP00000491013.1", "UniProtKB:A0A1W2PPR7", "ENSEMBL:ENSP00000491549", "ENSEMBL:ENSP00000491549.1", "UniProtKB:A0A1W2PQA9", "ENSEMBL:ENSP00000490965", "ENSEMBL:ENSP00000490965.1", "ENSEMBL:ENSP00000491620", "ENSEMBL:ENSP00000491620.1", "UniProtKB:O95427", "PR:O95427", "ENSEMBL:ENSP00000350263", "ENSEMBL:ENSP00000350263.4", "ENSEMBL:ENSP00000383188", "ENSEMBL:ENSP00000383188.2", "ENSEMBL:ENSP00000491525", "ENSEMBL:ENSP00000491525.1", "ENSEMBL:ENSP00000491628", "ENSEMBL:ENSP00000491628.1", "ENSEMBL:ENSP00000492051", "ENSEMBL:ENSP00000492051.1", "ENSEMBL:ENSP00000492233", "ENSEMBL:ENSP00000492233.1", "ENSEMBL:ENSP00000492592", "ENSEMBL:ENSP00000492592.1", "UMLS:C3253900", "MESH:C561296"], "information_content": 100.0}
{"id": "UniProtKB:Q96MP8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein KCTD7 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96MP8-1", "PR:Q96MP8-1", "ENSEMBL:ENSP00000492240", "ENSEMBL:ENSP00000492240.1"], "information_content": 100.0}
{"id": "UniProtKB:O43766-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lipoyl synthase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43766-1", "PR:O43766-1", "ENSEMBL:ENSP00000492260", "ENSEMBL:ENSP00000492260.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y5P2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chondrosarcoma-associated gene 2/3 protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y5P2-2", "PR:Q9Y5P2-2", "ENSEMBL:ENSP00000492276", "ENSEMBL:ENSP00000492276.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A1W2PRG6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A1W2PRG6_HUMAN Potassium voltage-gated channel subfamily H member 1 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A1W2PRG6", "ENSEMBL:ENSP00000492303", "ENSEMBL:ENSP00000492303.1"]}
{"id": "NCBIGene:102723796", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLE7", "equivalent_identifiers": ["NCBIGene:102723796", "ENSEMBL:ENSG00000260734", "HGNC:53648", "UMLS:C4555160", "UniProtKB:A0A1W2PR48", "PR:A0A1W2PR48", "ENSEMBL:ENSP00000492311", "ENSEMBL:ENSP00000492311.2"], "information_content": 100.0}
{"id": "NCBIGene:166336", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PRICKLE2", "equivalent_identifiers": ["NCBIGene:166336", "ENSEMBL:ENSG00000163637", "HGNC:20340", "OMIM:608501", "UMLS:C1426874", "UniProtKB:Q7Z3G6", "PR:Q7Z3G6", "ENSEMBL:ENSP00000455004", "ENSEMBL:ENSP00000455004.2", "ENSEMBL:ENSP00000492363", "ENSEMBL:ENSP00000492363.1", "UMLS:C3852382", "MESH:C000588606"], "information_content": 100.0}
{"id": "NCBIGene:100289187", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMEM225B", "equivalent_identifiers": ["NCBIGene:100289187", "ENSEMBL:ENSG00000244219", "HGNC:53075", "UMLS:C4321059", "UniProtKB:P0DP42", "PR:P0DP42", "ENSEMBL:ENSP00000491691", "ENSEMBL:ENSP00000491691.1", "ENSEMBL:ENSP00000492416", "ENSEMBL:ENSP00000492416.1"], "information_content": 95.4}
{"id": "UniProtKB:A0A024RBG1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NUD4B_HUMAN Diphosphoinositol polyphosphate phosphohydrolase NUDT4B (sprot)", "equivalent_identifiers": ["UniProtKB:A0A024RBG1", "PR:A0A024RBG1", "ENSEMBL:ENSP00000492425", "ENSEMBL:ENSP00000492425.1"], "information_content": 100.0}
{"id": "NCBIGene:111216276", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PMIS2", "equivalent_identifiers": ["NCBIGene:111216276", "ENSEMBL:ENSG00000283758", "HGNC:53649", "UMLS:C4555004", "UniProtKB:A0A1W2PS18", "PR:A0A1W2PS18", "ENSEMBL:ENSP00000492557", "ENSEMBL:ENSP00000492557.1", "UniProtKB:A0A2R8YHA6", "ENSEMBL:ENSP00000496617", "ENSEMBL:ENSP00000496617.1"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000492612", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000492612", "equivalent_identifiers": ["ENSEMBL:ENSP00000492612"]}
{"id": "NCBIGene:132946", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARL9", "equivalent_identifiers": ["NCBIGene:132946", "ENSEMBL:ENSG00000196503", "HGNC:23592", "OMIM:612405", "UMLS:C1428141", "UniProtKB:A0A1W2PS79", "ENSEMBL:ENSP00000492671", "ENSEMBL:ENSP00000492671.3", "UniProtKB:Q6T311", "PR:Q6T311", "UMLS:C1451186", "MESH:C484950"]}
{"id": "NCBIGene:116033993", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXL3", "equivalent_identifiers": ["NCBIGene:116033993", "HGNC:54201", "UMLS:C5241135", "UniProtKB:A0A1W2PRP0", "PR:A0A1W2PRP0", "ENSEMBL:ENSP00000492766", "ENSEMBL:ENSP00000492766.1"], "information_content": 100.0}
{"id": "MONDO:0100164", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "permanent neonatal diabetes mellitus", "equivalent_identifiers": ["MONDO:0100164", "DOID:0060639", "OMIM.PS:606176", "orphanet:99885", "UMLS:C1833104", "MESH:C563425", "NCIT:C114902", "SNOMEDCT:609565001", "medgen:371484", "icd11.foundation:33655955"], "information_content": 85.5}
{"id": "UniProtKB:Q5JUX0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spindlin-3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JUX0-1", "PR:Q5JUX0-1", "ENSEMBL:ENSP00000364054", "ENSEMBL:ENSP00000364054.3", "ENSEMBL:ENSP00000491179", "ENSEMBL:ENSP00000491179.1", "ENSEMBL:ENSP00000491624", "ENSEMBL:ENSP00000491624.1", "ENSEMBL:ENSP00000491751", "ENSEMBL:ENSP00000491751.1", "ENSEMBL:ENSP00000492344", "ENSEMBL:ENSP00000492344.1", "ENSEMBL:ENSP00000492381", "ENSEMBL:ENSP00000492381.1", "ENSEMBL:ENSP00000492795", "ENSEMBL:ENSP00000492795.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A1W2PS29", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A1W2PS29_HUMAN Glycine cleavage system H protein (trembl)", "equivalent_identifiers": ["UniProtKB:A0A1W2PS29", "ENSEMBL:ENSP00000492798", "ENSEMBL:ENSP00000492798.1", "ENSEMBL:ENSP00000517625", "ENSEMBL:ENSP00000517625.1"]}
{"id": "NCBIGene:127623", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2B11", "equivalent_identifiers": ["NCBIGene:127623", "ENSEMBL:ENSG00000177535", "HGNC:31249", "UMLS:C1429106", "UniProtKB:A0A126GVY5", "UniProtKB:Q5JQS5", "PR:Q5JQS5", "ENSEMBL:ENSP00000492892", "ENSEMBL:ENSP00000492892.1", "ENSEMBL:ENSP00000493421", "ENSEMBL:ENSP00000493421.1"], "information_content": 100.0}
{"id": "NCBIGene:442191", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR14J1", "equivalent_identifiers": ["NCBIGene:442191", "ENSEMBL:ENSG00000204695", "HGNC:13971", "UMLS:C1422312", "UniProtKB:A0A126GW10", "UniProtKB:Q9UGF5", "PR:Q9UGF5", "ENSEMBL:ENSP00000230221", "ENSEMBL:ENSP00000230221.4", "ENSEMBL:ENSP00000366365", "ENSEMBL:ENSP00000366365.2", "ENSEMBL:ENSP00000389802", "ENSEMBL:ENSP00000389802.3", "ENSEMBL:ENSP00000398851", "ENSEMBL:ENSP00000398851.3", "ENSEMBL:ENSP00000400501", "ENSEMBL:ENSP00000400501.3", "ENSEMBL:ENSP00000403553", "ENSEMBL:ENSP00000403553.3", "ENSEMBL:ENSP00000408647", "ENSEMBL:ENSP00000408647.3", "ENSEMBL:ENSP00000492893", "ENSEMBL:ENSP00000492893.1"], "information_content": 95.4}
{"id": "NCBIGene:26476", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10J1", "equivalent_identifiers": ["NCBIGene:26476", "ENSEMBL:ENSG00000196184", "HGNC:8175", "UMLS:C1417980", "UniProtKB:A0A126GWQ9", "ENSEMBL:ENSP00000399078", "ENSEMBL:ENSP00000399078.4", "ENSEMBL:ENSP00000493228", "ENSEMBL:ENSP00000493228.1", "ENSEMBL:ENSP00000517531", "ENSEMBL:ENSP00000517531.1", "ENSEMBL:ENSP00000517533", "ENSEMBL:ENSP00000517533.1", "UniProtKB:P30954", "PR:P30954", "ENSEMBL:ENSP00000492902", "ENSEMBL:ENSP00000492902.1", "ENSEMBL:ENSP00000517532", "ENSEMBL:ENSP00000517532.1"], "information_content": 100.0}
{"id": "NCBIGene:390265", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10G7", "equivalent_identifiers": ["NCBIGene:390265", "ENSEMBL:ENSG00000182634", "HGNC:14842", "UMLS:C1422987", "UniProtKB:A0A126GWF3", "UMLS:C5391898", "MESH:C000708052", "UniProtKB:Q8NGN6", "PR:Q8NGN6", "ENSEMBL:ENSP00000492905", "ENSEMBL:ENSP00000492905.1"], "information_content": 100.0}
{"id": "NCBIGene:219957", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR9Q2", "equivalent_identifiers": ["NCBIGene:219957", "ENSEMBL:ENSG00000186513", "HGNC:15328", "UMLS:C1423410", "UniProtKB:A0A126GW85", "UniProtKB:Q8NGE9", "PR:Q8NGE9", "ENSEMBL:ENSP00000492924", "ENSEMBL:ENSP00000492924.1"], "information_content": 100.0}
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{"id": "MONDO:0010211", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "xeroderma pigmentosum group C", "equivalent_identifiers": ["MONDO:0010211", "DOID:0110844", "OMIM:278720", "UMLS:C2752147", "MESH:C567886", "NCIT:C114770", "SNOMEDCT:25784009", "medgen:416702"], "information_content": 100.0}
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{"id": "NCBIGene:391109", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10K1", "equivalent_identifiers": ["NCBIGene:391109", "ENSEMBL:ENSG00000173285", "HGNC:14693", "UMLS:C1422847", "UniProtKB:A0A126GV64", "UniProtKB:Q8NGX5", "PR:Q8NGX5", "ENSEMBL:ENSP00000492890", "ENSEMBL:ENSP00000492890.1", "ENSEMBL:ENSP00000493023", "ENSEMBL:ENSP00000493023.1", "ENSEMBL:ENSP00000493025", "ENSEMBL:ENSP00000493025.1", "ENSEMBL:ENSP00000493278", "ENSEMBL:ENSP00000493278.1"], "information_content": 100.0}
{"id": "MONDO:0002387", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "liver angiosarcoma", "equivalent_identifiers": ["MONDO:0002387", "DOID:268", "UMLS:C0345907", "MEDDRA:10067388", "NCIT:C4438", "SNOMEDCT:109844006", "medgen:138027", "ICD10:C22.3"], "information_content": 95.4}
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{"id": "NCBIGene:390151", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR8H2", "equivalent_identifiers": ["NCBIGene:390151", "ENSEMBL:ENSG00000181767", "HGNC:15308", "UMLS:C1423392", "UniProtKB:Q8N162", "PR:Q8N162", "ENSEMBL:ENSP00000323982", "ENSEMBL:ENSP00000323982.1", "ENSEMBL:ENSP00000493031", "ENSEMBL:ENSP00000493031.1"], "information_content": 100.0}
{"id": "NCBIGene:254786", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR6C3", "equivalent_identifiers": ["NCBIGene:254786", "ENSEMBL:ENSG00000205329", "HGNC:15437", "UMLS:C1423489", "UniProtKB:A0A126GW44", "UniProtKB:Q9NZP0", "PR:Q9NZP0", "ENSEMBL:ENSP00000493034", "ENSEMBL:ENSP00000493034.1", "ENSEMBL:ENSP00000493380", "ENSEMBL:ENSP00000493380.1"], "information_content": 95.4}
{"id": "MONDO:0011963", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Joubert syndrome 2", "equivalent_identifiers": ["MONDO:0011963", "DOID:0110988", "OMIM:608091", "UMLS:C1842577", "MESH:C536294", "medgen:334114"], "information_content": 100.0}
{"id": "NCBIGene:390892", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR7A10", "equivalent_identifiers": ["NCBIGene:390892", "ENSEMBL:ENSG00000127515", "HGNC:8356", "UMLS:C1418100", "UniProtKB:A0A126GVC8", "UniProtKB:O76100", "PR:O76100", "ENSEMBL:ENSP00000493055", "ENSEMBL:ENSP00000493055.1"], "information_content": 100.0}
{"id": "MONDO:0011475", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4B2", "equivalent_identifiers": ["MONDO:0011475", "DOID:0110190", "OMIM:604563", "orphanet:99956", "UMLS:C1858278", "UMLS:C1858279", "UMLS:C1858280", "MESH:C535421", "MESH:C535422", "MESH:C565761", "SNOMEDCT:715800000", "medgen:346869", "icd11.foundation:393759720"], "information_content": 100.0}
{"id": "NCBIGene:219482", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5M3", "equivalent_identifiers": ["NCBIGene:219482", "ENSEMBL:ENSG00000174937", "HGNC:14806", "UMLS:C1422952", "UniProtKB:Q8NGP4", "PR:Q8NGP4", "ENSEMBL:ENSP00000493070", "ENSEMBL:ENSP00000493070.1", "ENSEMBL:ENSP00000517457", "ENSEMBL:ENSP00000517457.1"], "information_content": 100.0}
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{"id": "NCBIGene:284521", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2L13", "equivalent_identifiers": ["NCBIGene:284521", "ENSEMBL:ENSG00000196071", "HGNC:19578", "UMLS:C1426259", "UniProtKB:A0A126GW96", "UniProtKB:Q8N349", "PR:Q8N349", "ENSEMBL:ENSP00000350836", "ENSEMBL:ENSP00000350836.2", "ENSEMBL:ENSP00000492949", "ENSEMBL:ENSP00000492949.1", "ENSEMBL:ENSP00000493075", "ENSEMBL:ENSP00000493075.1"], "information_content": 100.0}
{"id": "NCBIGene:403274", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5H15", "equivalent_identifiers": ["NCBIGene:403274", "ENSEMBL:ENSG00000233412", "HGNC:31287", "UMLS:C1429143", "UniProtKB:A6NDH6", "PR:A6NDH6", "ENSEMBL:ENSP00000493082", "ENSEMBL:ENSP00000493082.1"], "information_content": 100.0}
{"id": "NCBIGene:390081", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52E4", "equivalent_identifiers": ["NCBIGene:390081", "ENSEMBL:ENSG00000180974", "HGNC:15213", "UMLS:C1423304", "UniProtKB:Q8NGH9", "PR:Q8NGH9", "ENSEMBL:ENSP00000493085", "ENSEMBL:ENSP00000493085.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6NXP2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Golgi-associated RAB2 interactor protein 1A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6NXP2-1", "PR:Q6NXP2-1", "ENSEMBL:ENSP00000493102", "ENSEMBL:ENSP00000493102.1"], "information_content": 100.0}
{"id": "MONDO:0002798", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "childhood central nervous system primitive neuroectodermal neoplasm", "equivalent_identifiers": ["MONDO:0002798", "DOID:3870", "UMLS:C1332957", "NCIT:C5961", "medgen:232347"], "information_content": 90.9}
{"id": "NCBIGene:4991", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR1D2", "equivalent_identifiers": ["NCBIGene:4991", "ENSEMBL:ENSG00000184166", "HGNC:8183", "OMIM:164342", "UMLS:C1417988", "UniProtKB:A0A126GVV4", "UMLS:C1175783", "MESH:C473192", "UniProtKB:P34982", "PR:P34982", "ENSEMBL:ENSP00000493077", "ENSEMBL:ENSP00000493077.1", "ENSEMBL:ENSP00000493103", "ENSEMBL:ENSP00000493103.1"], "information_content": 100.0}
{"id": "NCBIGene:125963", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR1M1", "equivalent_identifiers": ["NCBIGene:125963", "ENSEMBL:ENSG00000170929", "HGNC:8220", "UMLS:C1418008", "UniProtKB:Q8NGA1", "PR:Q8NGA1", "ENSEMBL:ENSP00000401966", "ENSEMBL:ENSP00000401966.2", "ENSEMBL:ENSP00000493107", "ENSEMBL:ENSP00000493107.1"], "information_content": 100.0}
{"id": "MONDO:0006729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "discrete subaortic stenosis", "equivalent_identifiers": ["MONDO:0006729", "DOID:5804", "EFO:1000901", "UMLS:C0012628", "MESH:D021922", "medgen:3867"], "information_content": 100.0}
{"id": "NCBIGene:647135", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SRGAP2B", "equivalent_identifiers": ["NCBIGene:647135", "ENSEMBL:ENSG00000196369", "HGNC:35237", "OMIM:614703", "UMLS:C3469872", "UniProtKB:A0A286YEY3", "ENSEMBL:ENSP00000493121", "ENSEMBL:ENSP00000493121.1", "UniProtKB:P0DMP2", "PR:P0DMP2", "ENSEMBL:ENSP00000477776", "ENSEMBL:ENSP00000477776.1"]}
{"id": "NCBIGene:390168", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5M1", "equivalent_identifiers": ["NCBIGene:390168", "ENSEMBL:ENSG00000255012", "HGNC:8352", "UMLS:C1418097", "UniProtKB:Q8NGP8", "PR:Q8NGP8", "ENSEMBL:ENSP00000493124", "ENSEMBL:ENSP00000493124.1"], "information_content": 100.0}
{"id": "NCBIGene:81442", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR6N2", "equivalent_identifiers": ["NCBIGene:81442", "ENSEMBL:ENSG00000188340", "HGNC:15035", "UMLS:C1423156", "UniProtKB:A0A126GV57", "UniProtKB:Q8NGY6", "PR:Q8NGY6", "ENSEMBL:ENSP00000493148", "ENSEMBL:ENSP00000493148.1"], "information_content": 100.0}
{"id": "NCBIGene:130075", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR9A4", "equivalent_identifiers": ["NCBIGene:130075", "ENSEMBL:ENSG00000258083", "HGNC:15095", "UMLS:C1423196", "UniProtKB:A0A126GVB1", "UniProtKB:Q8NGU2", "PR:Q8NGU2", "ENSEMBL:ENSP00000448789", "ENSEMBL:ENSP00000448789.1", "ENSEMBL:ENSP00000493151", "ENSEMBL:ENSP00000493151.1"], "information_content": 100.0}
{"id": "MONDO:0004660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung carcinoma in situ", "equivalent_identifiers": ["MONDO:0004660", "DOID:8800", "UMLS:C0154071", "UMLS:C0685053", "UMLS:C4520773", "MEDDRA:10007098", "MEDDRA:10007100", "MEDDRA:10007437", "MEDDRA:10007438", "MEDDRA:10025047", "MEDDRA:10025058", "MEDDRA:10025066", "MEDDRA:10025071", "MEDDRA:10025073", "MEDDRA:10037350", "MEDDRA:10037352", "NCIT:C194869", "NCIT:C27467", "SNOMEDCT:189262006", "SNOMEDCT:92649001", "medgen:146894", "ICD10:D02.2", "ICD9:231.2"], "information_content": 89.4}
{"id": "UniProtKB:P50897-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "palmitoyl-protein thioesterase 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P50897-1", "PR:P50897-1", "ENSEMBL:ENSP00000432053", "ENSEMBL:ENSP00000432053.1", "ENSEMBL:ENSP00000493153", "ENSEMBL:ENSP00000493153.1"], "information_content": 100.0}
{"id": "NCBIGene:119687", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR51A7", "equivalent_identifiers": ["NCBIGene:119687", "ENSEMBL:ENSG00000176895", "HGNC:15188", "UMLS:C1423280", "UniProtKB:Q8NH64", "PR:Q8NH64", "ENSEMBL:ENSP00000352305", "ENSEMBL:ENSP00000352305.4", "ENSEMBL:ENSP00000493162", "ENSEMBL:ENSP00000493162.1"], "information_content": 100.0}
{"id": "NCBIGene:81168", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR8J3", "equivalent_identifiers": ["NCBIGene:81168", "ENSEMBL:ENSG00000167822", "HGNC:15312", "UMLS:C1423396", "UniProtKB:A0A126GVE3", "UniProtKB:Q8NGG0", "PR:Q8NGG0", "ENSEMBL:ENSP00000493166", "ENSEMBL:ENSP00000493166.1", "ENSEMBL:ENSP00000493417", "ENSEMBL:ENSP00000493417.1"], "information_content": 100.0}
{"id": "NCBIGene:341418", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR6C4", "equivalent_identifiers": ["NCBIGene:341418", "ENSEMBL:ENSG00000179626", "HGNC:19632", "UMLS:C1426289", "UniProtKB:Q8NGE1", "PR:Q8NGE1", "ENSEMBL:ENSP00000377799", "ENSEMBL:ENSP00000377799.2", "ENSEMBL:ENSP00000493181", "ENSEMBL:ENSP00000493181.1", "ENSEMBL:ENSP00000493445", "ENSEMBL:ENSP00000493445.1"], "information_content": 100.0}
{"id": "UniProtKB:A8MYZ6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FOXO6_HUMAN Forkhead box protein O6 (sprot)", "equivalent_identifiers": ["UniProtKB:A8MYZ6", "PR:A8MYZ6", "ENSEMBL:ENSP00000493184", "ENSEMBL:ENSP00000493184.1", "UMLS:C3537292"], "information_content": 95.4}
{"id": "NCBIGene:390075", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52N5", "equivalent_identifiers": ["NCBIGene:390075", "ENSEMBL:ENSG00000181009", "HGNC:15231", "UMLS:C1423322", "UniProtKB:A0A126GVK9", "UniProtKB:Q8NH56", "PR:Q8NH56", "ENSEMBL:ENSP00000322866", "ENSEMBL:ENSP00000322866.2", "ENSEMBL:ENSP00000493190", "ENSEMBL:ENSP00000493190.1"], "information_content": 100.0}
{"id": "MONDO:0008869", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Seckel syndrome 1", "equivalent_identifiers": ["MONDO:0008869", "DOID:0070007", "OMIM:210600", "UMLS:C4551474", "MESH:C537533", "medgen:1637056"], "information_content": 100.0}
{"id": "NCBIGene:79544", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4K1", "equivalent_identifiers": ["NCBIGene:79544", "ENSEMBL:ENSG00000155249", "HGNC:14726", "UMLS:C1422877", "UniProtKB:Q8NGD4", "PR:Q8NGD4", "ENSEMBL:ENSP00000285600", "ENSEMBL:ENSP00000285600.3", "ENSEMBL:ENSP00000493193", "ENSEMBL:ENSP00000493193.1", "ENSEMBL:ENSP00000493205", "ENSEMBL:ENSP00000493205.1", "ENSEMBL:ENSP00000517371", "ENSEMBL:ENSP00000517371.1", "ENSEMBL:ENSP00000517372", "ENSEMBL:ENSP00000517372.1", "ENSEMBL:ENSP00000517373", "ENSEMBL:ENSP00000517373.1"], "information_content": 100.0}
{"id": "NCBIGene:441608", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5B3", "equivalent_identifiers": ["NCBIGene:441608", "ENSEMBL:ENSG00000172769", "HGNC:8324", "UMLS:C1418083", "UniProtKB:A0A126GVH3", "UniProtKB:Q8NH48", "PR:Q8NH48", "ENSEMBL:ENSP00000493217", "ENSEMBL:ENSP00000493217.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NHS3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "major facilitator superfamily domain-containing protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NHS3-1", "PR:Q8NHS3-1", "ENSEMBL:ENSP00000296468", "ENSEMBL:ENSP00000296468.3", "ENSEMBL:ENSP00000493218", "ENSEMBL:ENSP00000493218.2", "ENSEMBL:ENSP00000493279", "ENSEMBL:ENSP00000493279.1", "ENSEMBL:ENSP00000493330", "ENSEMBL:ENSP00000493330.1"], "information_content": 100.0}
{"id": "NCBIGene:341416", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR6C2", "equivalent_identifiers": ["NCBIGene:341416", "ENSEMBL:ENSG00000179695", "HGNC:15436", "UMLS:C1423488", "UniProtKB:A0A126GW05", "UniProtKB:Q9NZP2", "PR:Q9NZP2", "ENSEMBL:ENSP00000493222", "ENSEMBL:ENSP00000493222.1", "ENSEMBL:ENSP00000493456", "ENSEMBL:ENSP00000493456.1"], "information_content": 100.0}
{"id": "NCBIGene:403273", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5H14", "equivalent_identifiers": ["NCBIGene:403273", "ENSEMBL:ENSG00000236032", "HGNC:31286", "UMLS:C1429142", "UniProtKB:A6NHG9", "PR:A6NHG9", "ENSEMBL:ENSP00000401706", "ENSEMBL:ENSP00000401706.1", "ENSEMBL:ENSP00000493226", "ENSEMBL:ENSP00000493226.1"], "information_content": 100.0}
{"id": "NCBIGene:26497", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10D3", "equivalent_identifiers": ["NCBIGene:26497", "ENSEMBL:ENSG00000197309", "HGNC:8168", "UMLS:C1417973", "UniProtKB:Q8NH80", "PR:Q8NH80", "ENSEMBL:ENSP00000323895", "ENSEMBL:ENSP00000323895.6", "ENSEMBL:ENSP00000493028", "ENSEMBL:ENSP00000493028.1", "ENSEMBL:ENSP00000493231", "ENSEMBL:ENSP00000493231.1"], "information_content": 95.4}
{"id": "NCBIGene:10367", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MICU1", "equivalent_identifiers": ["NCBIGene:10367", "ENSEMBL:ENSG00000107745", "HGNC:1530", "OMIM:605084", "UMLS:C1413147", "UniProtKB:A0A286YF11", "ENSEMBL:ENSP00000493232", "ENSEMBL:ENSP00000493232.1", "UniProtKB:Q9BPX6", "PR:Q9BPX6", "UMLS:C0761198", "MESH:C116241"]}
{"id": "MONDO:0010370", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Cornelia de Lange syndrome 2", "equivalent_identifiers": ["MONDO:0010370", "DOID:0080506", "OMIM:300590", "UMLS:C1802395", "NCIT:C75485", "SNOMEDCT:55016009", "medgen:315658"], "information_content": 100.0}
{"id": "NCBIGene:127069", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2T10", "equivalent_identifiers": ["NCBIGene:127069", "ENSEMBL:ENSG00000184022", "HGNC:19573", "UMLS:C1426255", "UniProtKB:A0A126GV79", "UniProtKB:Q8NGZ9", "PR:Q8NGZ9", "ENSEMBL:ENSP00000329210", "ENSEMBL:ENSP00000329210.2", "ENSEMBL:ENSP00000493236", "ENSEMBL:ENSP00000493236.1", "ENSEMBL:ENSP00000518545", "ENSEMBL:ENSP00000518545.1", "ENSEMBL:ENSP00000518546", "ENSEMBL:ENSP00000518546.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15911-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger homeobox protein 3 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q15911-1", "PR:Q15911-1", "ENSEMBL:ENSP00000268489", "ENSEMBL:ENSP00000268489.5", "ENSEMBL:ENSP00000493252", "ENSEMBL:ENSP00000493252.1"], "information_content": 100.0}
{"id": "NCBIGene:128372", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR6N1", "equivalent_identifiers": ["NCBIGene:128372", "ENSEMBL:ENSG00000197403", "HGNC:15034", "UMLS:C1423155", "UniProtKB:Q8NGY5", "PR:Q8NGY5", "ENSEMBL:ENSP00000493254", "ENSEMBL:ENSP00000493254.1"], "information_content": 95.4}
{"id": "NCBIGene:390174", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR9G1", "equivalent_identifiers": ["NCBIGene:390174", "ENSEMBL:ENSG00000174914", "HGNC:15319", "UMLS:C1423403", "UniProtKB:Q8NH87", "PR:Q8NH87", "ENSEMBL:ENSP00000493255", "ENSEMBL:ENSP00000493255.1"], "information_content": 100.0}
{"id": "NCBIGene:26339", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5K1", "equivalent_identifiers": ["NCBIGene:26339", "ENSEMBL:ENSG00000232382", "HGNC:8349", "UMLS:C1418094", "UniProtKB:A0A126GWC1", "UniProtKB:Q8NHB7", "PR:Q8NHB7", "ENSEMBL:ENSP00000373193", "ENSEMBL:ENSP00000373193.2", "ENSEMBL:ENSP00000493267", "ENSEMBL:ENSP00000493267.1"], "information_content": 100.0}
{"id": "MONDO:0008799", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anophthalmia/microphthalmia-esophageal atresia syndrome", "equivalent_identifiers": ["MONDO:0008799", "DOID:0111801", "OMIM:206900", "orphanet:77298", "UMLS:C1859773", "UMLS:C1859774", "MESH:C565948", "MESH:C565949", "SNOMEDCT:698851003", "medgen:347232"], "information_content": 100.0}
{"id": "NCBIGene:219473", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR8K3", "equivalent_identifiers": ["NCBIGene:219473", "ENSEMBL:ENSG00000280314", "HGNC:15313", "UMLS:C1423397", "UniProtKB:Q8NH51", "PR:Q8NH51", "ENSEMBL:ENSP00000460880", "ENSEMBL:ENSP00000460880.1", "ENSEMBL:ENSP00000493271", "ENSEMBL:ENSP00000493271.1", "ENSEMBL:ENSP00000493440", "ENSEMBL:ENSP00000493440.1", "ENSEMBL:ENSP00000517464", "ENSEMBL:ENSP00000517464.1", "ENSEMBL:ENSP00000517465", "ENSEMBL:ENSP00000517465.1"], "information_content": 100.0}
{"id": "NCBIGene:79473", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52N1", "equivalent_identifiers": ["NCBIGene:79473", "ENSEMBL:ENSG00000181001", "HGNC:14853", "UMLS:C1422998", "UniProtKB:Q8NH53", "PR:Q8NH53", "ENSEMBL:ENSP00000493272", "ENSEMBL:ENSP00000493272.1"], "information_content": 100.0}
{"id": "NCBIGene:390054", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR52A5", "equivalent_identifiers": ["NCBIGene:390054", "ENSEMBL:ENSG00000171944", "HGNC:19580", "UMLS:C1426261", "UniProtKB:A0A126GWD2", "UniProtKB:Q9H2C5", "PR:Q9H2C5", "ENSEMBL:ENSP00000303469", "ENSEMBL:ENSP00000303469.1", "ENSEMBL:ENSP00000493298", "ENSEMBL:ENSP00000493298.1"], "information_content": 100.0}
{"id": "NCBIGene:341152", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2AT4", "equivalent_identifiers": ["NCBIGene:341152", "ENSEMBL:ENSG00000171561", "HGNC:19620", "UMLS:C1426281", "UniProtKB:A0A126GWB1", "UMLS:C4045290", "MESH:C000595261", "UniProtKB:A6NND4", "PR:A6NND4", "ENSEMBL:ENSP00000304846", "ENSEMBL:ENSP00000304846.3", "ENSEMBL:ENSP00000493299", "ENSEMBL:ENSP00000493299.1", "ENSEMBL:ENSP00000493318", "ENSEMBL:ENSP00000493318.1", "ENSEMBL:ENSP00000493416", "ENSEMBL:ENSP00000493416.1", "ENSEMBL:ENSP00000493460", "ENSEMBL:ENSP00000493460.1"], "information_content": 100.0}
{"id": "MONDO:0002153", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "telogen effluvium", "equivalent_identifiers": ["MONDO:0002153", "DOID:1943", "UMLS:C0263518", "MEDDRA:10043200", "NCIT:C112200", "SNOMEDCT:39479004", "medgen:537938", "icd11.foundation:1188535025", "ICD10:L65.0", "ICD9:704.02", "HP:0025470"], "information_content": 100.0}
{"id": "UniProtKB:Q9NVS9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyridoxine-5'-phosphate oxidase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NVS9-1", "PR:Q9NVS9-1", "ENSEMBL:ENSP00000493302", "ENSEMBL:ENSP00000493302.2"], "information_content": 100.0}
{"id": "NCBIGene:219447", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5AS1", "equivalent_identifiers": ["NCBIGene:219447", "ENSEMBL:ENSG00000181785", "HGNC:15261", "UMLS:C1423350", "UniProtKB:A0A126GVD4", "UniProtKB:Q8N127", "PR:Q8N127", "ENSEMBL:ENSP00000493325", "ENSEMBL:ENSP00000493325.1"], "information_content": 100.0}
{"id": "NCBIGene:390429", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4N2", "equivalent_identifiers": ["NCBIGene:390429", "ENSEMBL:ENSG00000176294", "HGNC:14742", "UMLS:C1422892", "UniProtKB:A0A126GVT2", "UniProtKB:Q8NGD1", "PR:Q8NGD1", "ENSEMBL:ENSP00000319601", "ENSEMBL:ENSP00000319601.1", "ENSEMBL:ENSP00000452022", "ENSEMBL:ENSP00000452022.2", "ENSEMBL:ENSP00000493327", "ENSEMBL:ENSP00000493327.1"], "information_content": 100.0}
{"id": "NCBIGene:79295", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR5H6", "equivalent_identifiers": ["NCBIGene:79295", "ENSEMBL:ENSG00000230301", "HGNC:14767", "UMLS:C1422917", "UniProtKB:A0A126GW86", "ENSEMBL:ENSP00000480705", "ENSEMBL:ENSP00000480705.3", "ENSEMBL:ENSP00000492964", "ENSEMBL:ENSP00000492964.1", "UniProtKB:Q8NGV6", "PR:Q8NGV6", "ENSEMBL:ENSP00000493340", "ENSEMBL:ENSP00000493340.1"], "information_content": 100.0}
{"id": "NCBIGene:390264", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10G4", "equivalent_identifiers": ["NCBIGene:390264", "ENSEMBL:ENSG00000254737", "HGNC:14809", "UMLS:C1422955", "UniProtKB:A0A126GWS5", "UniProtKB:Q8NGN3", "PR:Q8NGN3", "ENSEMBL:ENSP00000493036", "ENSEMBL:ENSP00000493036.1", "ENSEMBL:ENSP00000493354", "ENSEMBL:ENSP00000493354.1"], "information_content": 100.0}
{"id": "MONDO:0002564", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "jejunal neoplasm", "equivalent_identifiers": ["MONDO:0002564", "DOID:3218", "UMLS:C0022374", "MESH:D007580", "NCIT:C8401", "SNOMEDCT:126834003", "medgen:7187"], "information_content": 82.1}
{"id": "UniProtKB:Q99418-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytohesin-2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q99418-1", "PR:Q99418-1", "ENSEMBL:ENSP00000493357", "ENSEMBL:ENSP00000493357.1"], "information_content": 100.0}
{"id": "NCBIGene:219954", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR9I1", "equivalent_identifiers": ["NCBIGene:219954", "ENSEMBL:ENSG00000172377", "HGNC:14718", "OMIM:620828", "UMLS:C1422869", "UniProtKB:A0A126GVJ4", "UniProtKB:Q8NGQ6", "PR:Q8NGQ6", "ENSEMBL:ENSP00000493104", "ENSEMBL:ENSP00000493104.1", "ENSEMBL:ENSP00000493370", "ENSEMBL:ENSP00000493370.1"], "information_content": 95.4}
{"id": "NCBIGene:26227", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PHGDH", "equivalent_identifiers": ["NCBIGene:26227", "ENSEMBL:ENSG00000092621", "HGNC:8923", "OMIM:606879", "UMLS:C1418531", "UniProtKB:O43175", "PR:O43175", "ENSEMBL:ENSP00000493175", "ENSEMBL:ENSP00000493175.1", "ENSEMBL:ENSP00000493382", "ENSEMBL:ENSP00000493382.1", "UMLS:C4048261"], "information_content": 89.4}
{"id": "NCBIGene:81300", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4P4", "equivalent_identifiers": ["NCBIGene:81300", "ENSEMBL:ENSG00000181927", "HGNC:15180", "UMLS:C1423273", "UniProtKB:Q8NGL7", "PR:Q8NGL7", "ENSEMBL:ENSP00000493384", "ENSEMBL:ENSP00000493384.1"], "information_content": 100.0}
{"id": "NCBIGene:219431", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR4S2", "equivalent_identifiers": ["NCBIGene:219431", "ENSEMBL:ENSG00000174982", "HGNC:15183", "UMLS:C1423276", "UniProtKB:A0A126GVG1", "UniProtKB:Q8NH73", "PR:Q8NH73", "ENSEMBL:ENSP00000493389", "ENSEMBL:ENSP00000493389.1"], "information_content": 100.0}
{"id": "NCBIGene:338662", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR8D4", "equivalent_identifiers": ["NCBIGene:338662", "ENSEMBL:ENSG00000181518", "HGNC:14840", "UMLS:C1422985", "UniProtKB:Q8NGM9", "PR:Q8NGM9", "ENSEMBL:ENSP00000325381", "ENSEMBL:ENSP00000325381.2", "ENSEMBL:ENSP00000493391", "ENSEMBL:ENSP00000493391.1"], "information_content": 100.0}
{"id": "NCBIGene:126370", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR1I1", "equivalent_identifiers": ["NCBIGene:126370", "ENSEMBL:ENSG00000094661", "HGNC:8207", "UMLS:C1417999", "UniProtKB:O60431", "PR:O60431", "ENSEMBL:ENSP00000209540", "ENSEMBL:ENSP00000209540.2", "ENSEMBL:ENSP00000493393", "ENSEMBL:ENSP00000493393.1"], "information_content": 100.0}
{"id": "NCBIGene:26707", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR2J2", "equivalent_identifiers": ["NCBIGene:26707", "ENSEMBL:ENSG00000204700", "HGNC:8260", "UMLS:C1418035", "UniProtKB:A0A126GWS4", "ENSEMBL:ENSP00000493401", "ENSEMBL:ENSP00000493401.1", "UniProtKB:O76002", "PR:O76002", "ENSEMBL:ENSP00000351519", "ENSEMBL:ENSP00000351519.6", "ENSEMBL:ENSP00000366372", "ENSEMBL:ENSP00000366372.2", "ENSEMBL:ENSP00000392497", "ENSEMBL:ENSP00000392497.2", "ENSEMBL:ENSP00000396524", "ENSEMBL:ENSP00000396524.3", "ENSEMBL:ENSP00000398238", "ENSEMBL:ENSP00000398238.3", "ENSEMBL:ENSP00000403186", "ENSEMBL:ENSP00000403186.2", "ENSEMBL:ENSP00000408988", "ENSEMBL:ENSP00000408988.2", "ENSEMBL:ENSP00000416299", "ENSEMBL:ENSP00000416299.2"]}
{"id": "NCBIGene:125958", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR7D4", "equivalent_identifiers": ["NCBIGene:125958", "ENSEMBL:ENSG00000174667", "HGNC:8380", "OMIM:611538", "UMLS:C1418113", "UniProtKB:A0A126GVR1", "UniProtKB:Q8NG98", "PR:Q8NG98", "ENSEMBL:ENSP00000310488", "ENSEMBL:ENSP00000310488.2", "ENSEMBL:ENSP00000493383", "ENSEMBL:ENSP00000493383.1", "ENSEMBL:ENSP00000493404", "ENSEMBL:ENSP00000493404.1"], "information_content": 100.0}
{"id": "NCBIGene:138881", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR1L8", "equivalent_identifiers": ["NCBIGene:138881", "ENSEMBL:ENSG00000171496", "HGNC:15110", "UMLS:C1423209", "UniProtKB:A0A126GVC5", "UniProtKB:Q8NGR8", "PR:Q8NGR8", "ENSEMBL:ENSP00000493411", "ENSEMBL:ENSP00000493411.1"], "information_content": 100.0}
{"id": "MONDO:0014729", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 75", "equivalent_identifiers": ["MONDO:0014729", "DOID:0110820", "OMIM:616680", "orphanet:459056", "EFO:0009018", "UMLS:C4225250", "SNOMEDCT:1187470001", "medgen:896387"], "information_content": 100.0}
{"id": "MONDO:0014024", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 43", "equivalent_identifiers": ["MONDO:0014024", "DOID:0110795", "OMIM:615043", "orphanet:320370", "UMLS:C2680446", "SNOMEDCT:764736001", "medgen:760531"], "information_content": 100.0}
{"id": "MONDO:0012639", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 18", "equivalent_identifiers": ["MONDO:0012639", "DOID:0110771", "OMIM:611225", "orphanet:209951", "UMLS:C2749936", "MESH:C567628", "SNOMEDCT:732932004", "medgen:442343"], "information_content": 100.0}
{"id": "NCBIGene:390323", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR6C75", "equivalent_identifiers": ["NCBIGene:390323", "ENSEMBL:ENSG00000187857", "HGNC:31304", "UMLS:C1429160", "UniProtKB:A0A126GW92", "UniProtKB:A6NL08", "PR:A6NL08", "ENSEMBL:ENSP00000493430", "ENSEMBL:ENSP00000493430.1"], "information_content": 100.0}
{"id": "NCBIGene:26539", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "OR10H1", "equivalent_identifiers": ["NCBIGene:26539", "ENSEMBL:ENSG00000186723", "HGNC:8172", "UMLS:C1417977", "UniProtKB:A0A126GVU5", "UniProtKB:Q9Y4A9", "PR:Q9Y4A9", "ENSEMBL:ENSP00000335596", "ENSEMBL:ENSP00000335596.2", "ENSEMBL:ENSP00000493436", "ENSEMBL:ENSP00000493436.1"], "information_content": 95.4}
{"id": "NCBIGene:28955", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DEXI", "equivalent_identifiers": ["NCBIGene:28955", "ENSEMBL:ENSG00000182108", "HGNC:13267", "OMIM:617901", "UMLS:C2829258", "UniProtKB:O95424", "PR:O95424", "ENSEMBL:ENSP00000330509", "ENSEMBL:ENSP00000330509.4", "ENSEMBL:ENSP00000482265", "ENSEMBL:ENSP00000482265.1", "ENSEMBL:ENSP00000493467", "ENSEMBL:ENSP00000493467.1", "UMLS:C0968916", "MESH:C433368"], "information_content": 95.4}
{"id": "NCBIGene:153328", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A48", "equivalent_identifiers": ["NCBIGene:153328", "ENSEMBL:ENSG00000145832", "HGNC:30451", "OMIM:616150", "UMLS:C3146464", "UniProtKB:J3KQI1", "ENSEMBL:ENSP00000493514", "ENSEMBL:ENSP00000493514.1", "UniProtKB:Q6ZT89", "PR:Q6ZT89", "UMLS:C2717720", "MESH:C542799"]}
{"id": "UniProtKB:Q9Y3Z3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y3Z3-1", "PR:Q9Y3Z3-1", "ENSEMBL:ENSP00000493536", "ENSEMBL:ENSP00000493536.2", "ENSEMBL:ENSP00000495667", "ENSEMBL:ENSP00000495667.1", "ENSEMBL:ENSP00000506877", "ENSEMBL:ENSP00000506877.1", "ENSEMBL:ENSP00000507178", "ENSEMBL:ENSP00000507178.1"], "information_content": 100.0}
{"id": "NCBIGene:56154", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TEX15", "equivalent_identifiers": ["NCBIGene:56154", "ENSEMBL:ENSG00000133863", "HGNC:11738", "OMIM:605795", "UMLS:C1420695", "UniProtKB:A0A2R8Y358", "ENSEMBL:ENSP00000493555", "ENSEMBL:ENSP00000493555.1"]}
{"id": "UniProtKB:Q709C8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "intermembrane lipid transfer protein VPS13C isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q709C8-1", "PR:Q709C8-1", "ENSEMBL:ENSP00000493560", "ENSEMBL:ENSP00000493560.2"], "information_content": 100.0}
{"id": "UniProtKB:Q7Z406-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin-14 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q7Z406-2", "PR:Q7Z406-2", "ENSEMBL:ENSP00000493594", "ENSEMBL:ENSP00000493594.1"], "information_content": 100.0}
{"id": "UniProtKB:O15117-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "FYN-binding protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:O15117-3", "PR:O15117-3", "ENSEMBL:ENSP00000493623", "ENSEMBL:ENSP00000493623.1"], "information_content": 100.0}
{"id": "NCBIGene:55619", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DOCK10", "equivalent_identifiers": ["NCBIGene:55619", "ENSEMBL:ENSG00000135905", "HGNC:23479", "OMIM:611518", "UMLS:C1428093", "UniProtKB:A0A2R8YD85", "ENSEMBL:ENSP00000493664", "ENSEMBL:ENSP00000493664.1", "UniProtKB:Q96BY6", "PR:Q96BY6", "UMLS:C2603795", "MESH:C530992"]}
{"id": "UniProtKB:Q12974-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein tyrosine phosphatase type IVA 2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q12974-1", "PR:Q12974-1", "ENSEMBL:ENSP00000473259", "ENSEMBL:ENSP00000473259.1", "ENSEMBL:ENSP00000493688", "ENSEMBL:ENSP00000493688.1", "ENSEMBL:ENSP00000497092", "ENSEMBL:ENSP00000497092.1"], "information_content": 100.0}
{"id": "UniProtKB:Q06609-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA repair protein RAD51 homolog 1 isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q06609-4", "PR:Q06609-4", "ENSEMBL:ENSP00000372088", "ENSEMBL:ENSP00000372088.3", "ENSEMBL:ENSP00000493712", "ENSEMBL:ENSP00000493712.2"], "information_content": 100.0}
{"id": "NCBIGene:1948", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EFNB2", "equivalent_identifiers": ["NCBIGene:1948", "ENSEMBL:ENSG00000125266", "HGNC:3227", "OMIM:600527", "UMLS:C1414306", "UniProtKB:P52799", "PR:P52799", "ENSEMBL:ENSP00000493716", "ENSEMBL:ENSP00000493716.1", "UMLS:C3810534", "UMLS:C4077450", "MESH:C000601239"], "information_content": 90.9}
{"id": "NCBIGene:2887", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRB10", "equivalent_identifiers": ["NCBIGene:2887", "ENSEMBL:ENSG00000106070", "HGNC:4564", "OMIM:601523", "UMLS:C1366512", "UniProtKB:A0A2R8YCL1", "ENSEMBL:ENSP00000493728", "ENSEMBL:ENSP00000493728.1", "UniProtKB:Q13322", "PR:Q13322", "UMLS:C1430275", "MESH:C096358"]}
{"id": "UniProtKB:A0A2R8Y455", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A2R8Y455_HUMAN COMM domain-containing protein (trembl)", "equivalent_identifiers": ["UniProtKB:A0A2R8Y455", "ENSEMBL:ENSP00000493768", "ENSEMBL:ENSP00000493768.1"]}
{"id": "NCBIGene:642659", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HNRNPA1L3", "equivalent_identifiers": ["NCBIGene:642659", "ENSEMBL:ENSG00000224578", "HGNC:48778", "UMLS:C3147600", "UniProtKB:A0A2R8Y4L2", "PR:A0A2R8Y4L2", "ENSEMBL:ENSP00000493805", "ENSEMBL:ENSP00000493805.2", "ENSEMBL:ENSP00000513590", "ENSEMBL:ENSP00000513590.2"], "information_content": 100.0}
{"id": "NCBIGene:6487", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ST3GAL3", "equivalent_identifiers": ["NCBIGene:6487", "ENSEMBL:ENSG00000126091", "HGNC:10866", "OMIM:606494", "UMLS:C1539861", "UniProtKB:A0A2R8Y6H4", "ENSEMBL:ENSP00000495333", "ENSEMBL:ENSP00000495333.1", "UniProtKB:A0A2R8Y6L4", "ENSEMBL:ENSP00000495624", "ENSEMBL:ENSP00000495624.1", "UniProtKB:A0A2R8Y732", "ENSEMBL:ENSP00000495683", "ENSEMBL:ENSP00000495683.1", "UniProtKB:A0A2R8YDJ6", "ENSEMBL:ENSP00000493823", "ENSEMBL:ENSP00000493823.1", "UniProtKB:Q11203", "PR:Q11203", "UMLS:C5196887", "MESH:C000630364"]}
{"id": "ENSEMBL:ENSP00000493899", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000493899", "equivalent_identifiers": ["ENSEMBL:ENSP00000493899"]}
{"id": "UniProtKB:Q9NSN8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gamma-1-syntrophin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NSN8-1", "PR:Q9NSN8-1", "ENSEMBL:ENSP00000429276", "ENSEMBL:ENSP00000429276.1", "ENSEMBL:ENSP00000493900", "ENSEMBL:ENSP00000493900.1"], "information_content": 100.0}
{"id": "NCBIGene:126326", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GIPC3", "equivalent_identifiers": ["NCBIGene:126326", "ENSEMBL:ENSG00000179855", "HGNC:18183", "OMIM:608792", "UMLS:C1825353", "UniProtKB:A0A2R8Y651", "ENSEMBL:ENSP00000495068", "ENSEMBL:ENSP00000495068.1", "UniProtKB:Q8TF64", "PR:Q8TF64", "ENSEMBL:ENSP00000493901", "ENSEMBL:ENSP00000493901.2", "UMLS:C1121894", "MESH:C452600"], "information_content": 95.4}
{"id": "NCBIGene:2296", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXC1", "equivalent_identifiers": ["NCBIGene:2296", "ENSEMBL:ENSG00000054598", "HGNC:3800", "OMIM:601090", "UMLS:C1414668", "UniProtKB:Q12948", "PR:Q12948", "ENSEMBL:ENSP00000493906", "ENSEMBL:ENSP00000493906.1", "UMLS:C1431348", "MESH:C112743", "UniProtKB:W6CJ52"], "information_content": 100.0}
{"id": "UniProtKB:Q68CZ1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein fantom isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q68CZ1-1", "PR:Q68CZ1-1", "ENSEMBL:ENSP00000493946", "ENSEMBL:ENSP00000493946.1"], "information_content": 100.0}
{"id": "NCBIGene:155061", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF746", "equivalent_identifiers": ["NCBIGene:155061", "ENSEMBL:ENSG00000181220", "HGNC:21948", "OMIM:613914", "UMLS:C1824032", "UniProtKB:A0A2R8YDQ5", "ENSEMBL:ENSP00000493970", "ENSEMBL:ENSP00000493970.1", "UniProtKB:A0A8J9FQ52", "ENSEMBL:ENSP00000395007", "ENSEMBL:ENSP00000395007.3", "UniProtKB:Q6NUN9", "PR:Q6NUN9", "UMLS:C3883830", "MESH:C000591313"]}
{"id": "NCBIGene:8622", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDE8B", "equivalent_identifiers": ["NCBIGene:8622", "ENSEMBL:ENSG00000113231", "HGNC:8794", "OMIM:603390", "UMLS:C1418434", "UniProtKB:A0A2R8Y4E6", "ENSEMBL:ENSP00000493971", "ENSEMBL:ENSP00000493971.1", "UniProtKB:B3KN77", "UniProtKB:O95263", "PR:O95263", "UMLS:C1172460", "MESH:C468781"]}
{"id": "UniProtKB:P01042-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kininogen-1 isoform HMW (human)", "equivalent_identifiers": ["UniProtKB:P01042-1", "PR:P01042-1", "ENSEMBL:ENSP00000493985", "ENSEMBL:ENSP00000493985.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NQ40-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 52, riboflavin transporter, member 3 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NQ40-1", "PR:Q9NQ40-1", "ENSEMBL:ENSP00000217254", "ENSEMBL:ENSP00000217254.7", "ENSEMBL:ENSP00000494009", "ENSEMBL:ENSP00000494009.1", "ENSEMBL:ENSP00000494193", "ENSEMBL:ENSP00000494193.1"], "information_content": 100.0}
{"id": "UniProtKB:O43511-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pendrin isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O43511-1", "PR:O43511-1", "ENSEMBL:ENSP00000494017", "ENSEMBL:ENSP00000494017.1"], "information_content": 100.0}
{"id": "UniProtKB:O00571-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-dependent RNA helicase DDX3X isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00571-1", "PR:O00571-1", "ENSEMBL:ENSP00000478443", "ENSEMBL:ENSP00000478443.1", "ENSEMBL:ENSP00000486516", "ENSEMBL:ENSP00000486516.1", "ENSEMBL:ENSP00000486720", "ENSEMBL:ENSP00000486720.1", "ENSEMBL:ENSP00000487224", "ENSEMBL:ENSP00000487224.1", "ENSEMBL:ENSP00000494040", "ENSEMBL:ENSP00000494040.1"], "information_content": 100.0}
{"id": "NCBIGene:55964", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SEPTIN3", "equivalent_identifiers": ["NCBIGene:55964", "ENSEMBL:ENSG00000100167", "HGNC:10750", "OMIM:608314", "UMLS:C1419967", "UniProtKB:A0A2R8Y4H2", "ENSEMBL:ENSP00000494051", "ENSEMBL:ENSP00000494051.1", "UniProtKB:Q9UH03", "PR:Q9UH03"]}
{"id": "UniProtKB:P82094-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TATA element modulatory factor isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P82094-2", "PR:P82094-2", "ENSEMBL:ENSP00000494067", "ENSEMBL:ENSP00000494067.1"], "information_content": 100.0}
{"id": "UniProtKB:P55808-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glycoprotein Xg isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P55808-3", "PR:P55808-3", "ENSEMBL:ENSP00000494087", "ENSEMBL:ENSP00000494087.1"], "information_content": 100.0}
{"id": "UniProtKB:P67936-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tropomyosin alpha-4 chain isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P67936-2", "PR:P67936-2", "ENSEMBL:ENSP00000494125", "ENSEMBL:ENSP00000494125.1"], "information_content": 100.0}
{"id": "NCBIGene:6529", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC6A1", "equivalent_identifiers": ["NCBIGene:6529", "ENSEMBL:ENSG00000157103", "HGNC:11042", "OMIM:137165", "UMLS:C1420206", "UniProtKB:A0A2R8Y4I3", "ENSEMBL:ENSP00000493813", "ENSEMBL:ENSP00000493813.1", "UniProtKB:B7Z3C5", "ENSEMBL:ENSP00000493746", "ENSEMBL:ENSP00000493746.1", "ENSEMBL:ENSP00000494002", "ENSEMBL:ENSP00000494002.1", "ENSEMBL:ENSP00000495375", "ENSEMBL:ENSP00000495375.1", "UniProtKB:P30531", "PR:P30531", "ENSEMBL:ENSP00000287766", "ENSEMBL:ENSP00000287766.4", "ENSEMBL:ENSP00000493591", "ENSEMBL:ENSP00000493591.1", "ENSEMBL:ENSP00000494050", "ENSEMBL:ENSP00000494050.1", "ENSEMBL:ENSP00000494134", "ENSEMBL:ENSP00000494134.1", "ENSEMBL:ENSP00000494136", "ENSEMBL:ENSP00000494136.1", "ENSEMBL:ENSP00000494191", "ENSEMBL:ENSP00000494191.1", "ENSEMBL:ENSP00000494346", "ENSEMBL:ENSP00000494346.1", "ENSEMBL:ENSP00000494778", "ENSEMBL:ENSP00000494778.1", "ENSEMBL:ENSP00000494997", "ENSEMBL:ENSP00000494997.1", "ENSEMBL:ENSP00000495751", "ENSEMBL:ENSP00000495751.1", "ENSEMBL:ENSP00000495900", "ENSEMBL:ENSP00000495900.1", "ENSEMBL:ENSP00000496064", "ENSEMBL:ENSP00000496064.1", "ENSEMBL:ENSP00000496171", "ENSEMBL:ENSP00000496171.1", "ENSEMBL:ENSP00000496238", "ENSEMBL:ENSP00000496238.1", "ENSEMBL:ENSP00000496302", "ENSEMBL:ENSP00000496302.1", "ENSEMBL:ENSP00000496348", "ENSEMBL:ENSP00000496348.1", "ENSEMBL:ENSP00000496390", "ENSEMBL:ENSP00000496390.1", "ENSEMBL:ENSP00000496619", "ENSEMBL:ENSP00000496619.1", "ENSEMBL:ENSP00000496697", "ENSEMBL:ENSP00000496697.1", "UMLS:C1506479", "MESH:C493413"], "information_content": 95.4}
{"id": "NCBIGene:29940", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DSE", "equivalent_identifiers": ["NCBIGene:29940", "ENSEMBL:ENSG00000111817", "HGNC:21144", "OMIM:605942", "UMLS:C1427359", "UniProtKB:A0A2R8YE23", "ENSEMBL:ENSP00000495184", "ENSEMBL:ENSP00000495184.1", "ENSEMBL:ENSP00000495970", "ENSEMBL:ENSP00000495970.1", "UMLS:C1438824", "MESH:C405383", "UniProtKB:A0A2U3TZJ0", "ENSEMBL:ENSP00000352567", "ENSEMBL:ENSP00000352567.3", "UniProtKB:B3KY37", "UniProtKB:B7Z1T3", "UniProtKB:B7Z765", "UniProtKB:Q9UL01", "PR:Q9UL01", "ENSEMBL:ENSP00000332151", "ENSEMBL:ENSP00000332151.2", "ENSEMBL:ENSP00000404049", "ENSEMBL:ENSP00000404049.2", "ENSEMBL:ENSP00000494147", "ENSEMBL:ENSP00000494147.2"], "information_content": 90.9}
{"id": "NCBIGene:3043", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HBB", "equivalent_identifiers": ["NCBIGene:3043", "ENSEMBL:ENSG00000244734", "HGNC:4827", "OMIM:141900", "UMLS:C1415481", "UniProtKB:D9YZU5", "UniProtKB:P68871", "PR:P68871", "ENSEMBL:ENSP00000333994", "ENSEMBL:ENSP00000333994.3", "ENSEMBL:ENSP00000494175", "ENSEMBL:ENSP00000494175.1"], "information_content": 90.9}
{"id": "UniProtKB:P49639-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein Hox-A1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P49639-1", "PR:P49639-1", "ENSEMBL:ENSP00000494260", "ENSEMBL:ENSP00000494260.2"], "information_content": 100.0}
{"id": "NCBIGene:10207", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PATJ", "equivalent_identifiers": ["NCBIGene:10207", "ENSEMBL:ENSG00000132849", "HGNC:28881", "OMIM:603199", "UMLS:C1537407", "UniProtKB:A0A2R8Y549", "ENSEMBL:ENSP00000494277", "ENSEMBL:ENSP00000494277.1", "UniProtKB:Q8NI35", "PR:Q8NI35"]}
{"id": "NCBIGene:646864", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZNF723", "equivalent_identifiers": ["NCBIGene:646864", "ENSEMBL:ENSG00000268696", "HGNC:32286", "UMLS:C4321127", "UniProtKB:P0DPD5", "PR:P0DPD5", "ENSEMBL:ENSP00000494306", "ENSEMBL:ENSP00000494306.1"], "information_content": 100.0}
{"id": "NCBIGene:84636", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR174", "equivalent_identifiers": ["NCBIGene:84636", "ENSEMBL:ENSG00000147138", "HGNC:30245", "OMIM:300903", "UMLS:C1539610", "UniProtKB:Q9BXC1", "PR:Q9BXC1", "ENSEMBL:ENSP00000494310", "ENSEMBL:ENSP00000494310.1", "UMLS:C3659438", "MESH:C581018"], "information_content": 100.0}
{"id": "NCBIGene:6833", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABCC8", "equivalent_identifiers": ["NCBIGene:6833", "ENSEMBL:ENSG00000006071", "HGNC:59", "OMIM:600509", "UMLS:C1412082", "UniProtKB:A0A2R8Y4V0", "ENSEMBL:ENSP00000494321", "ENSEMBL:ENSP00000494321.1", "UniProtKB:A0A2R8Y5D8", "ENSEMBL:ENSP00000494450", "ENSEMBL:ENSP00000494450.1", "UniProtKB:A0A2R8YDG0", "ENSEMBL:ENSP00000493749", "ENSEMBL:ENSP00000493749.1", "UniProtKB:Q09428", "PR:Q09428", "UMLS:C3711621", "MESH:C577507"]}
{"id": "UniProtKB:Q06136-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "3-ketodihydrosphingosine reductase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q06136-1", "PR:Q06136-1", "ENSEMBL:ENSP00000494352", "ENSEMBL:ENSP00000494352.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9P2R7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9P2R7-1", "PR:Q9P2R7-1", "ENSEMBL:ENSP00000494360", "ENSEMBL:ENSP00000494360.1", "ENSEMBL:ENSP00000494987", "ENSEMBL:ENSP00000494987.1"], "information_content": 100.0}
{"id": "MONDO:0017359", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "3-methylglutaconic aciduria", "equivalent_identifiers": ["MONDO:0017359", "DOID:0060336", "OMIM.PS:250950", "orphanet:289902", "UMLS:C3696376", "MESH:C579867", "NCIT:C98678", "SNOMEDCT:237950009", "medgen:777186", "icd11.foundation:1008261602", "ICD10:E71.111", "HP:0003535"], "information_content": 84.2}
{"id": "UniProtKB:Q13126-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "S-methyl-5'-thioadenosine phosphorylase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q13126-1", "PR:Q13126-1", "ENSEMBL:ENSP00000494373", "ENSEMBL:ENSP00000494373.1"], "information_content": 100.0}
{"id": "NCBIGene:10804", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GJB6", "equivalent_identifiers": ["NCBIGene:10804", "ENSEMBL:ENSG00000121742", "HGNC:4288", "OMIM:604418", "UMLS:C1415081", "UniProtKB:O95452", "PR:O95452", "ENSEMBL:ENSP00000241124", "ENSEMBL:ENSP00000241124.6", "ENSEMBL:ENSP00000382938", "ENSEMBL:ENSP00000382938.3", "ENSEMBL:ENSP00000382939", "ENSEMBL:ENSP00000382939.3", "ENSEMBL:ENSP00000489698", "ENSEMBL:ENSP00000489698.1", "ENSEMBL:ENSP00000493621", "ENSEMBL:ENSP00000493621.1", "ENSEMBL:ENSP00000493834", "ENSEMBL:ENSP00000493834.1", "ENSEMBL:ENSP00000494468", "ENSEMBL:ENSP00000494468.1", "ENSEMBL:ENSP00000494733", "ENSEMBL:ENSP00000494733.1", "ENSEMBL:ENSP00000495320", "ENSEMBL:ENSP00000495320.1", "ENSEMBL:ENSP00000495841", "ENSEMBL:ENSP00000495841.1"], "information_content": 95.4}
{"id": "NCBIGene:9881", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRANK1", "equivalent_identifiers": ["NCBIGene:9881", "ENSEMBL:ENSG00000168016", "HGNC:29011", "OMIM:619316", "UMLS:C2828892", "UniProtKB:A0A2R8YEM9", "ENSEMBL:ENSP00000494480", "ENSEMBL:ENSP00000494480.1", "UniProtKB:O15050", "PR:O15050", "ENSEMBL:ENSP00000416168", "ENSEMBL:ENSP00000416168.2", "UMLS:C1308585", "MESH:C112841"]}
{"id": "UniProtKB:A0A2R8Y634", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A2R8Y634_HUMAN Oocyte secreted protein 1 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A2R8Y634", "ENSEMBL:ENSP00000494485", "ENSEMBL:ENSP00000494485.1", "ENSEMBL:ENSP00000495229", "ENSEMBL:ENSP00000495229.1"]}
{"id": "UniProtKB:P40225-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "thrombopoietin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P40225-1", "PR:P40225-1", "ENSEMBL:ENSP00000494504", "ENSEMBL:ENSP00000494504.1"], "information_content": 100.0}
{"id": "UniProtKB:P49711-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "transcriptional repressor CTCF isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P49711-1", "PR:P49711-1", "ENSEMBL:ENSP00000264010", "ENSEMBL:ENSP00000264010.4", "ENSEMBL:ENSP00000493495", "ENSEMBL:ENSP00000493495.1", "ENSEMBL:ENSP00000494408", "ENSEMBL:ENSP00000494408.1", "ENSEMBL:ENSP00000494538", "ENSEMBL:ENSP00000494538.1", "ENSEMBL:ENSP00000495348", "ENSEMBL:ENSP00000495348.1"], "information_content": 100.0}
{"id": "NCBIGene:4542", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYO1F", "equivalent_identifiers": ["NCBIGene:4542", "ENSEMBL:ENSG00000142347", "HGNC:7600", "OMIM:601480", "UMLS:C1417563", "UniProtKB:O00160", "PR:O00160", "ENSEMBL:ENSP00000494550", "ENSEMBL:ENSP00000494550.1", "ENSEMBL:ENSP00000520697", "ENSEMBL:ENSP00000520697.1", "UMLS:C3252286", "MESH:C562136"], "information_content": 95.4}
{"id": "NCBIGene:259236", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMIE", "equivalent_identifiers": ["NCBIGene:259236", "ENSEMBL:ENSG00000181585", "HGNC:30800", "OMIM:607237", "UMLS:C1540023", "UniProtKB:A0A2R8YDZ8", "ENSEMBL:ENSP00000495111", "ENSEMBL:ENSP00000495111.1", "UniProtKB:Q8NEW7", "PR:Q8NEW7", "ENSEMBL:ENSP00000494576", "ENSEMBL:ENSP00000494576.2", "UMLS:C1143953", "MESH:C466299"], "information_content": 95.4}
{"id": "UniProtKB:O15439-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP-binding cassette sub-family C member 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O15439-1", "PR:O15439-1", "ENSEMBL:ENSP00000494609", "ENSEMBL:ENSP00000494609.1"], "information_content": 100.0}
{"id": "UniProtKB:P19367-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hexokinase-1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P19367-3", "PR:P19367-3", "ENSEMBL:ENSP00000415949", "ENSEMBL:ENSP00000415949.2", "ENSEMBL:ENSP00000494664", "ENSEMBL:ENSP00000494664.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9ULP9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TBC1 domain family member 24 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9ULP9-1", "PR:Q9ULP9-1", "ENSEMBL:ENSP00000494678", "ENSEMBL:ENSP00000494678.1"], "information_content": 100.0}
{"id": "NCBIGene:117531", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMC1", "equivalent_identifiers": ["NCBIGene:117531", "ENSEMBL:ENSG00000165091", "HGNC:16513", "OMIM:606706", "UMLS:C1424345", "UniProtKB:Q8TDI8", "PR:Q8TDI8", "ENSEMBL:ENSP00000297784", "ENSEMBL:ENSP00000297784.6", "ENSEMBL:ENSP00000341433", "ENSEMBL:ENSP00000341433.3", "ENSEMBL:ENSP00000494684", "ENSEMBL:ENSP00000494684.1", "UMLS:C1257638", "MESH:C451751"], "information_content": 100.0}
{"id": "NCBIGene:6495", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SIX1", "equivalent_identifiers": ["NCBIGene:6495", "ENSEMBL:ENSG00000126778", "HGNC:10887", "OMIM:601205", "UMLS:C1420072", "UniProtKB:Q15475", "PR:Q15475", "ENSEMBL:ENSP00000494686", "ENSEMBL:ENSP00000494686.1", "UMLS:C1448964", "UMLS:C2827438", "MESH:C099236"], "information_content": 95.4}
{"id": "UniProtKB:Q12929-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "epidermal growth factor receptor kinase substrate 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q12929-1", "PR:Q12929-1", "ENSEMBL:ENSP00000281172", "ENSEMBL:ENSP00000281172.5", "ENSEMBL:ENSP00000441867", "ENSEMBL:ENSP00000441867.1", "ENSEMBL:ENSP00000442388", "ENSEMBL:ENSP00000442388.1", "ENSEMBL:ENSP00000494689", "ENSEMBL:ENSP00000494689.1", "ENSEMBL:ENSP00000494842", "ENSEMBL:ENSP00000494842.1", "ENSEMBL:ENSP00000495722", "ENSEMBL:ENSP00000495722.1", "ENSEMBL:ENSP00000495824", "ENSEMBL:ENSP00000495824.1", "ENSEMBL:ENSP00000495956", "ENSEMBL:ENSP00000495956.1", "ENSEMBL:ENSP00000496406", "ENSEMBL:ENSP00000496406.1", "ENSEMBL:ENSP00000496516", "ENSEMBL:ENSP00000496516.1"], "information_content": 100.0}
{"id": "NCBIGene:6133", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL9", "equivalent_identifiers": ["NCBIGene:6133", "ENSEMBL:ENSG00000163682", "HGNC:10369", "OMIM:603686", "UMLS:C1419689", "UniProtKB:P32969", "PR:P32969", "ENSEMBL:ENSP00000346022", "ENSEMBL:ENSP00000346022.7", "ENSEMBL:ENSP00000400467", "ENSEMBL:ENSP00000400467.2", "ENSEMBL:ENSP00000494697", "ENSEMBL:ENSP00000494697.1", "UMLS:C1505910", "UniProtKB:Q53Z07"], "information_content": 92.8}
{"id": "NCBIGene:3045", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HBD", "equivalent_identifiers": ["NCBIGene:3045", "ENSEMBL:ENSG00000223609", "HGNC:4829", "OMIM:142000", "UMLS:C1415483", "UniProtKB:A0N071", "UniProtKB:P02042", "PR:P02042", "ENSEMBL:ENSP00000494708", "ENSEMBL:ENSP00000494708.1", "ENSEMBL:ENSP00000497529", "ENSEMBL:ENSP00000497529.1", "UMLS:C0011244"], "information_content": 95.4}
{"id": "NCBIGene:60", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACTB", "equivalent_identifiers": ["NCBIGene:60", "ENSEMBL:ENSG00000075624", "HGNC:132", "OMIM:102630", "UMLS:C1384510", "UniProtKB:P60709", "PR:P60709", "ENSEMBL:ENSP00000494269", "ENSEMBL:ENSP00000494269.1", "ENSEMBL:ENSP00000494750", "ENSEMBL:ENSP00000494750.1", "ENSEMBL:ENSP00000495995", "ENSEMBL:ENSP00000495995.2", "ENSEMBL:ENSP00000501862", "ENSEMBL:ENSP00000501862.1", "ENSEMBL:ENSP00000502821", "ENSEMBL:ENSP00000502821.1", "UMLS:C3542398", "UniProtKB:Q1KLZ0"], "information_content": 81.7}
{"id": "UniProtKB:O14936-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peripheral plasma membrane protein CASK isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:O14936-2", "PR:O14936-2", "ENSEMBL:ENSP00000494788", "ENSEMBL:ENSP00000494788.1"], "information_content": 100.0}
{"id": "UniProtKB:P63162-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "small nuclear ribonucleoprotein-associated protein N isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P63162-1", "PR:P63162-1", "ENSEMBL:ENSP00000306223", "ENSEMBL:ENSP00000306223.10", "ENSEMBL:ENSP00000375105", "ENSEMBL:ENSP00000375105.4", "ENSEMBL:ENSP00000382969", "ENSEMBL:ENSP00000382969.1", "ENSEMBL:ENSP00000382972", "ENSEMBL:ENSP00000382972.1", "ENSEMBL:ENSP00000463458", "ENSEMBL:ENSP00000463458.1", "ENSEMBL:ENSP00000494831", "ENSEMBL:ENSP00000494831.1", "ENSEMBL:ENSP00000495345", "ENSEMBL:ENSP00000495345.1"], "information_content": 100.0}
{"id": "NCBIGene:6975", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TECTB", "equivalent_identifiers": ["NCBIGene:6975", "ENSEMBL:ENSG00000119913", "HGNC:11721", "OMIM:602653", "UMLS:C1420684", "UniProtKB:Q96PL2", "PR:Q96PL2", "ENSEMBL:ENSP00000358430", "ENSEMBL:ENSP00000358430.3", "ENSEMBL:ENSP00000494896", "ENSEMBL:ENSP00000494896.1", "UMLS:C1313825", "MESH:C093123"], "information_content": 92.8}
{"id": "NCBIGene:29089", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2T", "equivalent_identifiers": ["NCBIGene:29089", "ENSEMBL:ENSG00000077152", "HGNC:25009", "OMIM:610538", "UMLS:C1540147", "UniProtKB:Q9NPD8", "PR:Q9NPD8", "ENSEMBL:ENSP00000494957", "ENSEMBL:ENSP00000494957.1", "ENSEMBL:ENSP00000514379", "ENSEMBL:ENSP00000514379.1", "UMLS:C1741097", "MESH:C513404"], "information_content": 95.4}
{"id": "NCBIGene:23438", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HARS2", "equivalent_identifiers": ["NCBIGene:23438", "ENSEMBL:ENSG00000112855", "HGNC:4817", "OMIM:600783", "UMLS:C1415474", "UniProtKB:A0A2R8Y5P7", "ENSEMBL:ENSP00000493571", "ENSEMBL:ENSP00000493571.1", "ENSEMBL:ENSP00000494965", "ENSEMBL:ENSP00000494965.1", "UniProtKB:A0A2R8Y6I1", "ENSEMBL:ENSP00000495350", "ENSEMBL:ENSP00000495350.1", "ENSEMBL:ENSP00000496011", "ENSEMBL:ENSP00000496011.1", "UniProtKB:B4DDN8", "UMLS:C0297609", "MESH:C093612", "UniProtKB:P49590", "PR:P49590"]}
{"id": "UniProtKB:Q99697-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pituitary homeobox 2 isoform Ptx2C (human)", "equivalent_identifiers": ["UniProtKB:Q99697-2", "PR:Q99697-2", "ENSEMBL:ENSP00000495061", "ENSEMBL:ENSP00000495061.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N4S0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "coiled-coil domain-containing protein 82 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N4S0-1", "PR:Q8N4S0-1", "ENSEMBL:ENSP00000278520", "ENSEMBL:ENSP00000278520.5", "ENSEMBL:ENSP00000397156", "ENSEMBL:ENSP00000397156.2", "ENSEMBL:ENSP00000431148", "ENSEMBL:ENSP00000431148.2", "ENSEMBL:ENSP00000494629", "ENSEMBL:ENSP00000494629.1", "ENSEMBL:ENSP00000494657", "ENSEMBL:ENSP00000494657.1", "ENSEMBL:ENSP00000495063", "ENSEMBL:ENSP00000495063.1", "ENSEMBL:ENSP00000495081", "ENSEMBL:ENSP00000495081.1", "ENSEMBL:ENSP00000495485", "ENSEMBL:ENSP00000495485.1", "ENSEMBL:ENSP00000496393", "ENSEMBL:ENSP00000496393.1", "ENSEMBL:ENSP00000504912", "ENSEMBL:ENSP00000504912.1", "ENSEMBL:ENSP00000505510", "ENSEMBL:ENSP00000505510.1", "ENSEMBL:ENSP00000505833", "ENSEMBL:ENSP00000505833.1", "ENSEMBL:ENSP00000505858", "ENSEMBL:ENSP00000505858.1", "ENSEMBL:ENSP00000505977", "ENSEMBL:ENSP00000505977.1", "ENSEMBL:ENSP00000506164", "ENSEMBL:ENSP00000506164.1", "ENSEMBL:ENSP00000506296", "ENSEMBL:ENSP00000506296.1", "ENSEMBL:ENSP00000506371", "ENSEMBL:ENSP00000506371.1"], "information_content": 100.0}
{"id": "NCBIGene:349565", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NMNAT3", "equivalent_identifiers": ["NCBIGene:349565", "ENSEMBL:ENSG00000163864", "HGNC:20989", "OMIM:608702", "UMLS:C1427227", "UniProtKB:A0A2R8Y594", "ENSEMBL:ENSP00000494285", "ENSEMBL:ENSP00000494285.1", "UniProtKB:A0A2R8YFG2", "ENSEMBL:ENSP00000495112", "ENSEMBL:ENSP00000495112.1", "ENSEMBL:ENSP00000496061", "ENSEMBL:ENSP00000496061.1", "UMLS:C1433903", "MESH:C484009", "UniProtKB:A0A2R8YGL3", "ENSEMBL:ENSP00000496136", "ENSEMBL:ENSP00000496136.1", "UniProtKB:D6RGH7", "ENSEMBL:ENSP00000426357", "ENSEMBL:ENSP00000426357.1", "UniProtKB:Q49AL4", "UniProtKB:Q96T66", "PR:Q96T66"]}
{"id": "UniProtKB:O76094-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "signal recognition particle subunit SRP72 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O76094-1", "PR:O76094-1", "ENSEMBL:ENSP00000495128", "ENSEMBL:ENSP00000495128.1"], "information_content": 100.0}
{"id": "MONDO:0006650", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "anterior spinal artery syndrome", "equivalent_identifiers": ["MONDO:0006650", "DOID:6712", "EFO:1000810", "UMLS:C0221069", "UMLS:C0263855", "MESH:D020759", "MEDDRA:10002703", "MEDDRA:10081361", "NCIT:C197841", "SNOMEDCT:14363008", "SNOMEDCT:282785008", "SNOMEDCT:2972007", "medgen:65125", "ICD10:G83.82"], "information_content": 100.0}
{"id": "NCBIGene:114483833", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H2BK1", "equivalent_identifiers": ["NCBIGene:114483833", "ENSEMBL:ENSG00000285480", "HGNC:53833", "UMLS:C5576497", "UniProtKB:A0A2R8Y619", "PR:A0A2R8Y619", "ENSEMBL:ENSP00000495192", "ENSEMBL:ENSP00000495192.1"], "information_content": 100.0}
{"id": "ENSEMBL:ENSP00000495202", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000495202", "equivalent_identifiers": ["ENSEMBL:ENSP00000495202"]}
{"id": "UniProtKB:Q693B1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "BTB/POZ domain-containing protein KCTD11 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q693B1-1", "PR:Q693B1-1", "ENSEMBL:ENSP00000495203", "ENSEMBL:ENSP00000495203.1", "ENSEMBL:ENSP00000500224", "ENSEMBL:ENSP00000500224.1"], "information_content": 100.0}
{"id": "UniProtKB:P02549-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spectrin alpha chain, erythrocytic 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P02549-1", "PR:P02549-1", "ENSEMBL:ENSP00000495214", "ENSEMBL:ENSP00000495214.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HCK8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "chromodomain-helicase-DNA-binding protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HCK8-1", "PR:Q9HCK8-1", "ENSEMBL:ENSP00000451601", "ENSEMBL:ENSP00000451601.1", "ENSEMBL:ENSP00000495070", "ENSEMBL:ENSP00000495070.1", "ENSEMBL:ENSP00000495240", "ENSEMBL:ENSP00000495240.1"], "information_content": 100.0}
{"id": "NCBIGene:4126", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MANBA", "equivalent_identifiers": ["NCBIGene:4126", "ENSEMBL:ENSG00000109323", "HGNC:6831", "OMIM:609489", "UMLS:C1416999", "UniProtKB:O00462", "PR:O00462", "ENSEMBL:ENSP00000495247", "ENSEMBL:ENSP00000495247.1", "UMLS:C5197225", "MESH:C000631477"], "information_content": 87.2}
{"id": "NCBIGene:6201", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS7", "equivalent_identifiers": ["NCBIGene:6201", "ENSEMBL:ENSG00000171863", "HGNC:10440", "OMIM:603658", "UMLS:C1419751", "UniProtKB:P62081", "PR:P62081", "ENSEMBL:ENSP00000385018", "ENSEMBL:ENSP00000385018.1", "ENSEMBL:ENSP00000385286", "ENSEMBL:ENSP00000385286.1", "ENSEMBL:ENSP00000495273", "ENSEMBL:ENSP00000495273.1", "ENSEMBL:ENSP00000496654", "ENSEMBL:ENSP00000496654.1", "ENSEMBL:ENSP00000496757", "ENSEMBL:ENSP00000496757.1", "UMLS:C5445015"], "information_content": 92.8}
{"id": "UniProtKB:O14617-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-3 complex subunit delta-1 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:O14617-5", "PR:O14617-5", "ENSEMBL:ENSP00000495274", "ENSEMBL:ENSP00000495274.2"], "information_content": 100.0}
{"id": "UniProtKB:Q13621-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 12 member 1 isoform A (human)", "equivalent_identifiers": ["UniProtKB:Q13621-1", "PR:Q13621-1", "ENSEMBL:ENSP00000370381", "ENSEMBL:ENSP00000370381.3", "ENSEMBL:ENSP00000495332", "ENSEMBL:ENSP00000495332.1"], "information_content": 100.0}
{"id": "NCBIGene:1499", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTNNB1", "equivalent_identifiers": ["NCBIGene:1499", "ENSEMBL:ENSG00000168036", "HGNC:2514", "OMIM:116806", "UMLS:C1332803", "UniProtKB:B4DGU4", "ENSEMBL:ENSP00000400508", "ENSEMBL:ENSP00000400508.2", "ENSEMBL:ENSP00000411226", "ENSEMBL:ENSP00000411226.1", "ENSEMBL:ENSP00000494467", "ENSEMBL:ENSP00000494467.1", "ENSEMBL:ENSP00000494780", "ENSEMBL:ENSP00000494780.1", "ENSEMBL:ENSP00000495161", "ENSEMBL:ENSP00000495161.1", "ENSEMBL:ENSP00000495286", "ENSEMBL:ENSP00000495286.1", "ENSEMBL:ENSP00000495426", "ENSEMBL:ENSP00000495426.1", "ENSEMBL:ENSP00000495794", "ENSEMBL:ENSP00000495794.1", "ENSEMBL:ENSP00000496067", "ENSEMBL:ENSP00000496067.1", "ENSEMBL:ENSP00000496295", "ENSEMBL:ENSP00000496295.1", "UniProtKB:P35222", "PR:P35222", "ENSEMBL:ENSP00000344456", "ENSEMBL:ENSP00000344456.5", "ENSEMBL:ENSP00000379486", "ENSEMBL:ENSP00000379486.3", "ENSEMBL:ENSP00000379488", "ENSEMBL:ENSP00000379488.3", "ENSEMBL:ENSP00000385604", "ENSEMBL:ENSP00000385604.1", "ENSEMBL:ENSP00000387455", "ENSEMBL:ENSP00000387455.2", "ENSEMBL:ENSP00000401599", "ENSEMBL:ENSP00000401599.2", "ENSEMBL:ENSP00000409302", "ENSEMBL:ENSP00000409302.2", "ENSEMBL:ENSP00000412219", "ENSEMBL:ENSP00000412219.2", "ENSEMBL:ENSP00000493533", "ENSEMBL:ENSP00000493533.1", "ENSEMBL:ENSP00000493583", "ENSEMBL:ENSP00000493583.2", "ENSEMBL:ENSP00000493610", "ENSEMBL:ENSP00000493610.1", "ENSEMBL:ENSP00000494053", "ENSEMBL:ENSP00000494053.1", "ENSEMBL:ENSP00000494411", "ENSEMBL:ENSP00000494411.1", "ENSEMBL:ENSP00000494677", "ENSEMBL:ENSP00000494677.1", "ENSEMBL:ENSP00000494845", "ENSEMBL:ENSP00000494845.1", "ENSEMBL:ENSP00000494914", "ENSEMBL:ENSP00000494914.1", "ENSEMBL:ENSP00000495076", "ENSEMBL:ENSP00000495076.1", "ENSEMBL:ENSP00000495244", "ENSEMBL:ENSP00000495244.1", "ENSEMBL:ENSP00000495360", "ENSEMBL:ENSP00000495360.1", "ENSEMBL:ENSP00000495450", "ENSEMBL:ENSP00000495450.1", "ENSEMBL:ENSP00000495719", "ENSEMBL:ENSP00000495719.1", "ENSEMBL:ENSP00000495992", "ENSEMBL:ENSP00000495992.1", "ENSEMBL:ENSP00000496021", "ENSEMBL:ENSP00000496021.1", "ENSEMBL:ENSP00000496180", "ENSEMBL:ENSP00000496180.1", "ENSEMBL:ENSP00000496385", "ENSEMBL:ENSP00000496385.1", "UMLS:C1531189", "MESH:C495270"], "information_content": 72.1}
{"id": "NCBIGene:80704", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC19A3", "equivalent_identifiers": ["NCBIGene:80704", "ENSEMBL:ENSG00000135917", "HGNC:16266", "OMIM:606152", "UMLS:C1424138", "UniProtKB:A0A2R8YHG5", "ENSEMBL:ENSP00000496701", "ENSEMBL:ENSP00000496701.1", "UniProtKB:Q9BZV2", "PR:Q9BZV2", "ENSEMBL:ENSP00000258403", "ENSEMBL:ENSP00000258403.3", "ENSEMBL:ENSP00000495385", "ENSEMBL:ENSP00000495385.1", "UMLS:C1504796", "MESH:C492291"], "information_content": 100.0}
{"id": "NCBIGene:9866", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM66", "equivalent_identifiers": ["NCBIGene:9866", "ENSEMBL:ENSG00000166436", "HGNC:29005", "OMIM:612000", "UMLS:C1540070", "UniProtKB:A0A8Z5E822", "ENSEMBL:ENSP00000495413", "ENSEMBL:ENSP00000495413.1", "UMLS:C4276543", "MESH:C000609454", "UniProtKB:A0A994J572", "ENSEMBL:ENSP00000516162", "ENSEMBL:ENSP00000516162.1", "UniProtKB:A0A994J7V7", "ENSEMBL:ENSP00000516163", "ENSEMBL:ENSP00000516163.1", "UniProtKB:O15016", "PR:O15016"]}
{"id": "NCBIGene:284805", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "C20orf203", "equivalent_identifiers": ["NCBIGene:284805", "ENSEMBL:ENSG00000198547", "HGNC:26592", "UMLS:C2828937", "UniProtKB:Q8NBC4", "PR:Q8NBC4", "ENSEMBL:ENSP00000495162", "ENSEMBL:ENSP00000495162.1", "ENSEMBL:ENSP00000495424", "ENSEMBL:ENSP00000495424.1"], "information_content": 95.4}
{"id": "UniProtKB:P0C7U1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "putative inactive neutral ceramidase B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P0C7U1-1", "PR:P0C7U1-1", "ENSEMBL:ENSP00000363118", "ENSEMBL:ENSP00000363118.1", "ENSEMBL:ENSP00000495463", "ENSEMBL:ENSP00000495463.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKN7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-XV isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKN7-1", "PR:Q9UKN7-1", "ENSEMBL:ENSP00000495481", "ENSEMBL:ENSP00000495481.1"], "information_content": 100.0}
{"id": "DOID:0081145", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "common variable immunodeficiency 2", "equivalent_identifiers": ["DOID:0081145"]}
{"id": "NCBIGene:84189", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLITRK6", "equivalent_identifiers": ["NCBIGene:84189", "ENSEMBL:ENSG00000184564", "HGNC:23503", "OMIM:609681", "UMLS:C1428107", "UniProtKB:Q9H5Y7", "PR:Q9H5Y7", "ENSEMBL:ENSP00000495507", "ENSEMBL:ENSP00000495507.1", "ENSEMBL:ENSP00000496428", "ENSEMBL:ENSP00000496428.1", "UMLS:C3657195", "MESH:C581991"], "information_content": 92.8}
{"id": "NCBIGene:2023", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ENO1", "equivalent_identifiers": ["NCBIGene:2023", "ENSEMBL:ENSG00000074800", "HGNC:3350", "OMIM:172430", "UMLS:C1414402", "UniProtKB:A0A024R4F1", "UniProtKB:A0A2R8Y6G6", "ENSEMBL:ENSP00000495530", "ENSEMBL:ENSP00000495530.1", "UniProtKB:P06733", "PR:P06733", "UMLS:C0300895", "MESH:C095157"]}
{"id": "UniProtKB:Q92834-6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "X-linked retinitis pigmentosa GTPase regulator isoform h6 (human)", "equivalent_identifiers": ["UniProtKB:Q92834-6", "PR:Q92834-6", "ENSEMBL:ENSP00000495537", "ENSEMBL:ENSP00000495537.1"], "information_content": 100.0}
{"id": "UniProtKB:O60907-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box-like/WD repeat-containing protein TBL1X isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60907-1", "PR:O60907-1", "ENSEMBL:ENSP00000385988", "ENSEMBL:ENSP00000385988.2", "ENSEMBL:ENSP00000493782", "ENSEMBL:ENSP00000493782.1", "ENSEMBL:ENSP00000495556", "ENSEMBL:ENSP00000495556.1", "ENSEMBL:ENSP00000496215", "ENSEMBL:ENSP00000496215.1"], "information_content": 100.0}
{"id": "NCBIGene:3766", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNJ10", "equivalent_identifiers": ["NCBIGene:3766", "ENSEMBL:ENSG00000177807", "HGNC:6256", "OMIM:602208", "UMLS:C1416577", "UniProtKB:P78508", "PR:P78508", "ENSEMBL:ENSP00000491250", "ENSEMBL:ENSP00000491250.1", "ENSEMBL:ENSP00000492619", "ENSEMBL:ENSP00000492619.1", "ENSEMBL:ENSP00000495557", "ENSEMBL:ENSP00000495557.1", "UMLS:C1430620", "MESH:C000730342"], "information_content": 95.4}
{"id": "UniProtKB:Q9NRW7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vacuolar protein sorting-associated protein 45 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NRW7-1", "PR:Q9NRW7-1", "ENSEMBL:ENSP00000495563", "ENSEMBL:ENSP00000495563.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ISB3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "grainyhead-like protein 2 homolog isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ISB3-1", "PR:Q6ISB3-1", "ENSEMBL:ENSP00000495564", "ENSEMBL:ENSP00000495564.1"], "information_content": 100.0}
{"id": "NCBIGene:374462", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTPRQ", "equivalent_identifiers": ["NCBIGene:374462", "ENSEMBL:ENSG00000139304", "HGNC:9679", "OMIM:603317", "UMLS:C1419122", "UniProtKB:A0A087WZU1", "ENSEMBL:ENSP00000495607", "ENSEMBL:ENSP00000495607.1", "UMLS:C1956495", "MESH:C516917"]}
{"id": "NCBIGene:4201", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MEA1", "equivalent_identifiers": ["NCBIGene:4201", "ENSEMBL:ENSG00000124733", "HGNC:6986", "OMIM:143170", "UMLS:C1825957", "UniProtKB:A0A2R8Y6W5", "ENSEMBL:ENSP00000495612", "ENSEMBL:ENSP00000495612.1", "UniProtKB:A0A2R8Y7W8", "ENSEMBL:ENSP00000493661", "ENSEMBL:ENSP00000493661.1", "ENSEMBL:ENSP00000493896", "ENSEMBL:ENSP00000493896.1", "ENSEMBL:ENSP00000494198", "ENSEMBL:ENSP00000494198.1", "ENSEMBL:ENSP00000496447", "ENSEMBL:ENSP00000496447.1", "UMLS:C1451769", "MESH:C512727", "UniProtKB:Q16626", "PR:Q16626", "ENSEMBL:ENSP00000244711", "ENSEMBL:ENSP00000244711.3"]}
{"id": "MONDO:0001262", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "African histoplasmosis", "equivalent_identifiers": ["MONDO:0001262", "DOID:11315", "UMLS:C0153270", "UMLS:C0220977", "MEDDRA:10021811", "SNOMEDCT:78511005", "medgen:526120", "ICD9:115.10"], "information_content": 100.0}
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{"id": "NCBIGene:6165", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPL35A", "equivalent_identifiers": ["NCBIGene:6165", "ENSEMBL:ENSG00000182899", "HGNC:10345", "OMIM:180468", "UMLS:C1419668", "UniProtKB:P18077", "PR:P18077", "ENSEMBL:ENSP00000393393", "ENSEMBL:ENSP00000393393.1", "ENSEMBL:ENSP00000495672", "ENSEMBL:ENSP00000495672.1", "UMLS:C1454100", "MESH:C489281"], "information_content": 89.4}
{"id": "ENSEMBL:ENSP00000495705", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000495705", "equivalent_identifiers": ["ENSEMBL:ENSP00000495705"]}
{"id": "NCBIGene:84320", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ACBD6", "equivalent_identifiers": ["NCBIGene:84320", "ENSEMBL:ENSG00000230124", "HGNC:23339", "OMIM:616352", "UMLS:C1428044", "UniProtKB:B2RAA8", "UniProtKB:Q9BR61", "PR:Q9BR61", "ENSEMBL:ENSP00000356567", "ENSEMBL:ENSP00000356567.3", "ENSEMBL:ENSP00000495710", "ENSEMBL:ENSP00000495710.1", "UMLS:C2604732", "MESH:C530903"], "information_content": 90.9}
{"id": "NCBIGene:5459", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POU4F3", "equivalent_identifiers": ["NCBIGene:5459", "ENSEMBL:ENSG00000091010", "HGNC:9220", "OMIM:602460", "UMLS:C1418767", "UniProtKB:Q15319", "PR:Q15319", "ENSEMBL:ENSP00000495718", "ENSEMBL:ENSP00000495718.1", "UMLS:C0672678", "MESH:C111223"], "information_content": 95.4}
{"id": "UniProtKB:Q5JU85-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "IQ motif and SEC7 domain-containing protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5JU85-2", "PR:Q5JU85-2", "ENSEMBL:ENSP00000495726", "ENSEMBL:ENSP00000495726.1", "ENSEMBL:ENSP00000502054", "ENSEMBL:ENSP00000502054.1"], "information_content": 100.0}
{"id": "UniProtKB:P48637-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "glutathione synthetase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P48637-1", "PR:P48637-1", "ENSEMBL:ENSP00000493903", "ENSEMBL:ENSP00000493903.1", "ENSEMBL:ENSP00000495750", "ENSEMBL:ENSP00000495750.1", "ENSEMBL:ENSP00000498303", "ENSEMBL:ENSP00000498303.1"], "information_content": 100.0}
{"id": "NCBIGene:51099", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABHD5", "equivalent_identifiers": ["NCBIGene:51099", "ENSEMBL:ENSG00000011198", "HGNC:21396", "OMIM:604780", "UMLS:C1427541", "UniProtKB:A0A0S2Z5D6", "UMLS:C1099265", "MESH:C439972", "UniProtKB:A0A2U3TZT9", "ENSEMBL:ENSP00000390849", "ENSEMBL:ENSP00000390849.3", "UniProtKB:C9J1D1", "ENSEMBL:ENSP00000412014", "ENSEMBL:ENSP00000412014.2", "ENSEMBL:ENSP00000494478", "ENSEMBL:ENSP00000494478.1", "UniProtKB:Q8WTS1", "PR:Q8WTS1", "ENSEMBL:ENSP00000495778", "ENSEMBL:ENSP00000495778.1", "ENSEMBL:ENSP00000497701", "ENSEMBL:ENSP00000497701.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQ90-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial inner membrane m-AAA protease component paraplegin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UQ90-1", "PR:Q9UQ90-1", "ENSEMBL:ENSP00000495795", "ENSEMBL:ENSP00000495795.2"], "information_content": 100.0}
{"id": "NCBIGene:4693", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NDP", "equivalent_identifiers": ["NCBIGene:4693", "ENSEMBL:ENSG00000124479", "HGNC:7678", "OMIM:300658", "UMLS:C1417616", "UniProtKB:Q00604", "PR:Q00604", "ENSEMBL:ENSP00000495811", "ENSEMBL:ENSP00000495811.1", "ENSEMBL:ENSP00000495972", "ENSEMBL:ENSP00000495972.1", "UMLS:C1504724", "MESH:C081848"], "information_content": 100.0}
{"id": "NCBIGene:494513", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PJVK", "equivalent_identifiers": ["NCBIGene:494513", "ENSEMBL:ENSG00000204311", "HGNC:29502", "OMIM:610219", "UMLS:C1539285", "UniProtKB:A0PK15", "ENSEMBL:ENSP00000494225", "ENSEMBL:ENSP00000494225.1", "ENSEMBL:ENSP00000495731", "ENSEMBL:ENSP00000495731.1", "ENSEMBL:ENSP00000496024", "ENSEMBL:ENSP00000496024.1", "ENSEMBL:ENSP00000496267", "ENSEMBL:ENSP00000496267.1", "UniProtKB:Q0ZLH3", "PR:Q0ZLH3", "ENSEMBL:ENSP00000364271", "ENSEMBL:ENSP00000364271.4", "ENSEMBL:ENSP00000495855", "ENSEMBL:ENSP00000495855.2", "UMLS:C1957123", "MESH:C519847"], "information_content": 95.4}
{"id": "NCBIGene:54822", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRPM7", "equivalent_identifiers": ["NCBIGene:54822", "ENSEMBL:ENSG00000092439", "HGNC:17994", "OMIM:605692", "UMLS:C1425224", "UniProtKB:H0YLN8", "ENSEMBL:ENSP00000453277", "ENSEMBL:ENSP00000453277.1", "UniProtKB:Q96QT4", "PR:Q96QT4", "ENSEMBL:ENSP00000495860", "ENSEMBL:ENSP00000495860.1", "UMLS:C1435009", "MESH:C486583"], "information_content": 100.0}
{"id": "UniProtKB:P11277-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spectrin beta chain, erythrocytic isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P11277-2", "PR:P11277-2", "ENSEMBL:ENSP00000374372", "ENSEMBL:ENSP00000374372.3", "ENSEMBL:ENSP00000495909", "ENSEMBL:ENSP00000495909.1"], "information_content": 100.0}
{"id": "NCBIGene:132332", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM43", "equivalent_identifiers": ["NCBIGene:132332", "ENSEMBL:ENSG00000164112", "HGNC:55077", "UMLS:C5445985", "UniProtKB:Q4W5P6", "PR:Q4W5P6", "ENSEMBL:ENSP00000495721", "ENSEMBL:ENSP00000495721.1", "ENSEMBL:ENSP00000495936", "ENSEMBL:ENSP00000495936.2"], "information_content": 100.0}
{"id": "UniProtKB:P21583-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kit ligand isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P21583-1", "PR:P21583-1", "ENSEMBL:ENSP00000495951", "ENSEMBL:ENSP00000495951.1"], "information_content": 95.4}
{"id": "UniProtKB:Q8NEV4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myosin-IIIa isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEV4-1", "PR:Q8NEV4-1", "ENSEMBL:ENSP00000495965", "ENSEMBL:ENSP00000495965.1"], "information_content": 100.0}
{"id": "UniProtKB:P57082-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-box transcription factor TBX4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P57082-2", "PR:P57082-2", "ENSEMBL:ENSP00000495714", "ENSEMBL:ENSP00000495714.1", "ENSEMBL:ENSP00000495986", "ENSEMBL:ENSP00000495986.1"], "information_content": 100.0}
{"id": "NCBIGene:399697", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CTXN2", "equivalent_identifiers": ["NCBIGene:399697", "ENSEMBL:ENSG00000233932", "HGNC:31109", "UMLS:C1429081", "UniProtKB:P0C2S0", "PR:P0C2S0", "ENSEMBL:ENSP00000406145", "ENSEMBL:ENSP00000406145.2", "ENSEMBL:ENSP00000493942", "ENSEMBL:ENSP00000493942.1", "ENSEMBL:ENSP00000495979", "ENSEMBL:ENSP00000495979.1", "ENSEMBL:ENSP00000495988", "ENSEMBL:ENSP00000495988.1"], "information_content": 95.4}
{"id": "NCBIGene:5456", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POU3F4", "equivalent_identifiers": ["NCBIGene:5456", "ENSEMBL:ENSG00000196767", "HGNC:9217", "OMIM:300039", "UMLS:C1418764", "UniProtKB:A0A2R8Y739", "ENSEMBL:ENSP00000495996", "ENSEMBL:ENSP00000495996.1", "UMLS:C1447336", "MESH:C091774", "UniProtKB:P49335", "PR:P49335"]}
{"id": "UniProtKB:Q96PV0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras/Rap GTPase-activating protein SynGAP isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96PV0-1", "PR:Q96PV0-1", "ENSEMBL:ENSP00000414259", "ENSEMBL:ENSP00000414259.2", "ENSEMBL:ENSP00000486463", "ENSEMBL:ENSP00000486463.1", "ENSEMBL:ENSP00000496007", "ENSEMBL:ENSP00000496007.1"], "information_content": 100.0}
{"id": "NCBIGene:80167", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABHD18", "equivalent_identifiers": ["NCBIGene:80167", "ENSEMBL:ENSG00000164074", "HGNC:26111", "UMLS:C1824172", "UniProtKB:A0A2R8YEZ0", "ENSEMBL:ENSP00000496010", "ENSEMBL:ENSP00000496010.1", "UniProtKB:Q0P651", "PR:Q0P651"]}
{"id": "MONDO:0006962", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "sebaceous adenocarcinoma", "equivalent_identifiers": ["MONDO:0006962", "DOID:4839", "DOID:4840", "EFO:1001171", "UMLS:C0206684", "MESH:D018266", "MEDDRA:10068784", "NCIT:C40310", "SNOMEDCT:307599002", "SNOMEDCT:54734006", "medgen:64632", "HP:0030410"], "information_content": 82.6}
{"id": "NCBIGene:391769", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H3Y1", "equivalent_identifiers": ["NCBIGene:391769", "ENSEMBL:ENSG00000269466", "HGNC:43735", "UMLS:C5239998", "UniProtKB:P0DPK2", "PR:P0DPK2", "ENSEMBL:ENSP00000496014", "ENSEMBL:ENSP00000496014.2", "UMLS:C4723822"], "information_content": 100.0}
{"id": "UniProtKB:O15160-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA-directed RNA polymerases I and III subunit RPAC1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15160-1", "PR:O15160-1", "ENSEMBL:ENSP00000496044", "ENSEMBL:ENSP00000496044.1"], "information_content": 100.0}
{"id": "MONDO:0010184", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "methylmalonic aciduria and homocystinuria type cblC", "equivalent_identifiers": ["MONDO:0010184", "DOID:0050715", "OMIM:277400", "orphanet:79282", "UMLS:C1848561", "UMLS:C4693974", "NCIT:C142174", "SNOMEDCT:74653006", "medgen:341256"], "information_content": 100.0}
{"id": "MONDO:0018237", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acrofacial dysostosis", "equivalent_identifiers": ["MONDO:0018237", "DOID:0060379", "orphanet:364574", "UMLS:C1332140", "NCIT:C35795", "medgen:272278", "icd11.foundation:1702160042"], "information_content": 80.9}
{"id": "NCBIGene:6332", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCN7A", "equivalent_identifiers": ["NCBIGene:6332", "ENSEMBL:ENSG00000136546", "HGNC:10594", "OMIM:182392", "UMLS:C1419865", "UniProtKB:Q01118", "PR:Q01118", "ENSEMBL:ENSP00000403846", "ENSEMBL:ENSP00000403846.2", "ENSEMBL:ENSP00000496114", "ENSEMBL:ENSP00000496114.1", "UMLS:C1612002", "MESH:C503482"], "information_content": 100.0}
{"id": "UniProtKB:P05771-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein kinase C beta type isoform Beta-II (human)", "equivalent_identifiers": ["UniProtKB:P05771-2", "PR:P05771-2", "ENSEMBL:ENSP00000496129", "ENSEMBL:ENSP00000496129.1"], "information_content": 89.4}
{"id": "UniProtKB:P10635-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytochrome P450 2D6 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P10635-1", "PR:P10635-1", "ENSEMBL:ENSP00000496150", "ENSEMBL:ENSP00000496150.1"], "information_content": 100.0}
{"id": "UniProtKB:P04075-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fructose-bisphosphate aldolase A isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P04075-2", "PR:P04075-2", "ENSEMBL:ENSP00000496166", "ENSEMBL:ENSP00000496166.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9H165-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B-cell lymphoma/leukemia 11A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9H165-1", "PR:Q9H165-1", "ENSEMBL:ENSP00000496168", "ENSEMBL:ENSP00000496168.1"], "information_content": 100.0}
{"id": "NCBIGene:79581", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC52A2", "equivalent_identifiers": ["NCBIGene:79581", "ENSEMBL:ENSG00000185803", "HGNC:30224", "OMIM:607882", "UMLS:C1539607", "UniProtKB:A0A6Q8PHF8", "ENSEMBL:ENSP00000502670", "ENSEMBL:ENSP00000502670.1", "ENSEMBL:ENSP00000518297", "ENSEMBL:ENSP00000518297.1", "UniProtKB:E9PKE4", "ENSEMBL:ENSP00000433583", "ENSEMBL:ENSP00000433583.3", "ENSEMBL:ENSP00000501554", "ENSEMBL:ENSP00000501554.1", "ENSEMBL:ENSP00000501973", "ENSEMBL:ENSP00000501973.1", "ENSEMBL:ENSP00000518285", "ENSEMBL:ENSP00000518285.1", "ENSEMBL:ENSP00000518291", "ENSEMBL:ENSP00000518291.1", "ENSEMBL:ENSP00000518292", "ENSEMBL:ENSP00000518292.1", "UniProtKB:Q9HAB3", "PR:Q9HAB3", "ENSEMBL:ENSP00000333638", "ENSEMBL:ENSP00000333638.2", "ENSEMBL:ENSP00000385961", "ENSEMBL:ENSP00000385961.1", "ENSEMBL:ENSP00000431965", "ENSEMBL:ENSP00000431965.2", "ENSEMBL:ENSP00000434728", "ENSEMBL:ENSP00000434728.1", "ENSEMBL:ENSP00000435820", "ENSEMBL:ENSP00000435820.1", "ENSEMBL:ENSP00000496184", "ENSEMBL:ENSP00000496184.2", "ENSEMBL:ENSP00000501933", "ENSEMBL:ENSP00000501933.1", "ENSEMBL:ENSP00000501993", "ENSEMBL:ENSP00000501993.1", "ENSEMBL:ENSP00000502274", "ENSEMBL:ENSP00000502274.1", "ENSEMBL:ENSP00000502294", "ENSEMBL:ENSP00000502294.1", "ENSEMBL:ENSP00000502406", "ENSEMBL:ENSP00000502406.1", "ENSEMBL:ENSP00000502652", "ENSEMBL:ENSP00000502652.1", "ENSEMBL:ENSP00000502796", "ENSEMBL:ENSP00000502796.1", "ENSEMBL:ENSP00000518278", "ENSEMBL:ENSP00000518278.1", "ENSEMBL:ENSP00000518280", "ENSEMBL:ENSP00000518280.1", "ENSEMBL:ENSP00000518281", "ENSEMBL:ENSP00000518281.1", "ENSEMBL:ENSP00000518282", "ENSEMBL:ENSP00000518282.1", "ENSEMBL:ENSP00000518283", "ENSEMBL:ENSP00000518283.1", "ENSEMBL:ENSP00000518284", "ENSEMBL:ENSP00000518284.1", "ENSEMBL:ENSP00000518286", "ENSEMBL:ENSP00000518286.1", "ENSEMBL:ENSP00000518287", "ENSEMBL:ENSP00000518287.1", "ENSEMBL:ENSP00000518289", "ENSEMBL:ENSP00000518289.1", "ENSEMBL:ENSP00000518290", "ENSEMBL:ENSP00000518290.1", "ENSEMBL:ENSP00000518293", "ENSEMBL:ENSP00000518293.1", "ENSEMBL:ENSP00000518294", "ENSEMBL:ENSP00000518294.1", "ENSEMBL:ENSP00000518296", "ENSEMBL:ENSP00000518296.1", "UMLS:C2715543", "MESH:C540350"], "information_content": 88.2}
{"id": "UniProtKB:Q9UIL4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "kinesin-like protein KIF25 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIL4-1", "PR:Q9UIL4-1", "ENSEMBL:ENSP00000388878", "ENSEMBL:ENSP00000388878.2", "ENSEMBL:ENSP00000496229", "ENSEMBL:ENSP00000496229.1"], "information_content": 100.0}
{"id": "MONDO:0001954", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophlebitis migrans", "equivalent_identifiers": ["MONDO:0001954", "DOID:14392", "UMLS:C0152250", "UMLS:C0398359", "MEDDRA:10043581", "MEDDRA:10060905", "SNOMEDCT:31268005", "medgen:508947", "icd11.foundation:674623750", "ICD10:I82.1", "ICD9:453.1"], "information_content": 100.0}
{"id": "NCBIGene:9197", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC33A1", "equivalent_identifiers": ["NCBIGene:9197", "ENSEMBL:ENSG00000169359", "HGNC:95", "OMIM:603690", "UMLS:C1412113", "UniProtKB:A0A2R8Y5I5", "ENSEMBL:ENSP00000494476", "ENSEMBL:ENSP00000494476.1", "UniProtKB:A0A2R8YF57", "ENSEMBL:ENSP00000494846", "ENSEMBL:ENSP00000494846.1", "UniProtKB:H7C532", "ENSEMBL:ENSP00000418847", "ENSEMBL:ENSP00000418847.2", "UniProtKB:O00400", "PR:O00400", "ENSEMBL:ENSP00000352456", "ENSEMBL:ENSP00000352456.3", "ENSEMBL:ENSP00000496241", "ENSEMBL:ENSP00000496241.1", "UMLS:C1434665", "MESH:C484549"], "information_content": 90.9}
{"id": "UniProtKB:P62913-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "large ribosomal subunit protein uL5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P62913-1", "PR:P62913-1", "ENSEMBL:ENSP00000496250", "ENSEMBL:ENSP00000496250.1"], "information_content": 100.0}
{"id": "UniProtKB:Q99502-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein phosphatase EYA1 isoform hEYA1A (human)", "equivalent_identifiers": ["UniProtKB:Q99502-1", "PR:Q99502-1", "ENSEMBL:ENSP00000342626", "ENSEMBL:ENSP00000342626.3", "ENSEMBL:ENSP00000373394", "ENSEMBL:ENSP00000373394.4", "ENSEMBL:ENSP00000494438", "ENSEMBL:ENSP00000494438.1", "ENSEMBL:ENSP00000496255", "ENSEMBL:ENSP00000496255.1"], "information_content": 100.0}
{"id": "NCBIGene:8910", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SGCE", "equivalent_identifiers": ["NCBIGene:8910", "ENSEMBL:ENSG00000127990", "HGNC:10808", "OMIM:604149", "UMLS:C1420008", "UniProtKB:A0A0S2Z4P5", "UniProtKB:A0A2R8Y448", "ENSEMBL:ENSP00000493751", "ENSEMBL:ENSP00000493751.1", "UniProtKB:A0A2R8Y5J3", "ENSEMBL:ENSP00000494488", "ENSEMBL:ENSP00000494488.1", "UniProtKB:A0A2R8YGQ3", "ENSEMBL:ENSP00000496268", "ENSEMBL:ENSP00000496268.1", "UniProtKB:B4DP78", "UniProtKB:C9JR67", "ENSEMBL:ENSP00000388734", "ENSEMBL:ENSP00000388734.1", "UniProtKB:E9PEH6", "ENSEMBL:ENSP00000394061", "ENSEMBL:ENSP00000394061.2", "UniProtKB:O43556", "PR:O43556", "UMLS:C2351395", "MESH:C526572"]}
{"id": "NCBIGene:81603", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TRIM8", "equivalent_identifiers": ["NCBIGene:81603", "ENSEMBL:ENSG00000171206", "HGNC:15579", "OMIM:606125", "UMLS:C1423591", "UniProtKB:Q9BZR9", "PR:Q9BZR9", "ENSEMBL:ENSP00000496301", "ENSEMBL:ENSP00000496301.1", "ENSEMBL:ENSP00000518207", "ENSEMBL:ENSP00000518207.1", "UMLS:C0963409", "MESH:C418604"], "information_content": 90.9}
{"id": "UniProtKB:Q05940-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "synaptic vesicular amine transporter isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q05940-1", "PR:Q05940-1", "ENSEMBL:ENSP00000496339", "ENSEMBL:ENSP00000496339.1"], "information_content": 100.0}
{"id": "NCBIGene:7100", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TLR5", "equivalent_identifiers": ["NCBIGene:7100", "ENSEMBL:ENSG00000187554", "HGNC:11851", "OMIM:603031", "UMLS:C1336637", "UniProtKB:A0A2R8Y7Z4", "UniProtKB:O60602", "PR:O60602", "ENSEMBL:ENSP00000385458", "ENSEMBL:ENSP00000385458.3", "ENSEMBL:ENSP00000493892", "ENSEMBL:ENSP00000493892.2", "ENSEMBL:ENSP00000496355", "ENSEMBL:ENSP00000496355.1", "ENSEMBL:ENSP00000519509", "ENSEMBL:ENSP00000519509.1", "ENSEMBL:ENSP00000519510", "ENSEMBL:ENSP00000519510.1", "UMLS:C1308398", "MESH:C495346"], "information_content": 92.8}
{"id": "UniProtKB:Q9H2D6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "TRIO and F-actin-binding protein isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9H2D6-1", "PR:Q9H2D6-1", "ENSEMBL:ENSP00000496394", "ENSEMBL:ENSP00000496394.1"], "information_content": 100.0}
{"id": "UniProtKB:P30518-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "vasopressin V2 receptor isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P30518-1", "PR:P30518-1", "ENSEMBL:ENSP00000338072", "ENSEMBL:ENSP00000338072.5", "ENSEMBL:ENSP00000496396", "ENSEMBL:ENSP00000496396.1"], "information_content": 100.0}
{"id": "UniProtKB:P35241-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "radixin isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:P35241-5", "PR:P35241-5", "ENSEMBL:ENSP00000432112", "ENSEMBL:ENSP00000432112.1", "ENSEMBL:ENSP00000437301", "ENSEMBL:ENSP00000437301.1", "ENSEMBL:ENSP00000496414", "ENSEMBL:ENSP00000496414.1"], "information_content": 100.0}
{"id": "NCBIGene:2295", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXF2", "equivalent_identifiers": ["NCBIGene:2295", "ENSEMBL:ENSG00000137273", "HGNC:3810", "OMIM:603250", "UMLS:C1414678", "UniProtKB:Q12947", "PR:Q12947", "ENSEMBL:ENSP00000496415", "ENSEMBL:ENSP00000496415.1", "UMLS:C1430406", "MESH:C486413"], "information_content": 100.0}
{"id": "NCBIGene:927", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD8B2", "equivalent_identifiers": ["NCBIGene:927", "ENSEMBL:ENSG00000254126", "HGNC:1708", "UMLS:C4319866", "UniProtKB:A0A2R8Y6U7", "ENSEMBL:ENSP00000495575", "ENSEMBL:ENSP00000495575.1", "UniProtKB:A6NJW9", "PR:A6NJW9", "ENSEMBL:ENSP00000496416", "ENSEMBL:ENSP00000496416.1"], "information_content": 100.0}
{"id": "NCBIGene:9294", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "S1PR2", "equivalent_identifiers": ["NCBIGene:9294", "ENSEMBL:ENSG00000267534", "HGNC:3169", "OMIM:605111", "UMLS:C1414257", "UniProtKB:O95136", "PR:O95136", "ENSEMBL:ENSP00000496438", "ENSEMBL:ENSP00000496438.1", "UMLS:C1311816", "MESH:C477522"], "information_content": 100.0}
{"id": "UniProtKB:O15041-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "semaphorin-3E isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O15041-1", "PR:O15041-1", "ENSEMBL:ENSP00000496491", "ENSEMBL:ENSP00000496491.1"], "information_content": 100.0}
{"id": "UniProtKB:P07951-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tropomyosin beta chain isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P07951-1", "PR:P07951-1", "ENSEMBL:ENSP00000496494", "ENSEMBL:ENSP00000496494.2"], "information_content": 100.0}
{"id": "UniProtKB:O75648-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial tRNA-specific 2-thiouridylase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O75648-1", "PR:O75648-1", "ENSEMBL:ENSP00000496496", "ENSEMBL:ENSP00000496496.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7RTW8-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "otoancorin isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q7RTW8-5", "PR:Q7RTW8-5", "ENSEMBL:ENSP00000373610", "ENSEMBL:ENSP00000373610.3", "ENSEMBL:ENSP00000496564", "ENSEMBL:ENSP00000496564.2"], "information_content": 100.0}
{"id": "NCBIGene:8651", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SOCS1", "equivalent_identifiers": ["NCBIGene:8651", "ENSEMBL:ENSG00000185338", "HGNC:19383", "OMIM:603597", "UMLS:C1426208", "UniProtKB:O15524", "PR:O15524", "ENSEMBL:ENSP00000329418", "ENSEMBL:ENSP00000329418.2", "ENSEMBL:ENSP00000496577", "ENSEMBL:ENSP00000496577.1", "UMLS:C0540335", "UMLS:C3275256", "MESH:C108944", "UniProtKB:Q4JHT5"], "information_content": 100.0}
{"id": "UniProtKB:B1AK53-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "espin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:B1AK53-1", "PR:B1AK53-1", "ENSEMBL:ENSP00000496593", "ENSEMBL:ENSP00000496593.1"], "information_content": 100.0}
{"id": "NCBIGene:5213", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PFKM", "equivalent_identifiers": ["NCBIGene:5213", "ENSEMBL:ENSG00000152556", "HGNC:8877", "OMIM:610681", "UMLS:C1418492", "UniProtKB:A0A024R0Y5", "UniProtKB:A0A0S2Z4I1", "UniProtKB:A0A2R8Y891", "ENSEMBL:ENSP00000496597", "ENSEMBL:ENSP00000496597.1", "UniProtKB:F8VTQ3", "ENSEMBL:ENSP00000447997", "ENSEMBL:ENSP00000447997.3", "UniProtKB:P08237", "PR:P08237", "UMLS:C1448495", "MESH:C026043"]}
{"id": "UniProtKB:P08686-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "steroid 21-hydroxylase isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P08686-1", "PR:P08686-1", "ENSEMBL:ENSP00000372812", "ENSEMBL:ENSP00000372812.4", "ENSEMBL:ENSP00000394942", "ENSEMBL:ENSP00000394942.2", "ENSEMBL:ENSP00000416598", "ENSEMBL:ENSP00000416598.2", "ENSEMBL:ENSP00000496625", "ENSEMBL:ENSP00000496625.1"], "information_content": 100.0}
{"id": "UniProtKB:P54252-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ataxin-3 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P54252-2", "PR:P54252-2", "ENSEMBL:ENSP00000496695", "ENSEMBL:ENSP00000496695.1"], "information_content": 100.0}
{"id": "MONDO:0012116", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 8", "equivalent_identifiers": ["MONDO:0012116", "DOID:0050959", "OMIM:608768", "orphanet:98760", "UMLS:C1837454", "MESH:C537307", "SNOMEDCT:715753001", "medgen:332457", "icd11.foundation:1735913595"], "information_content": 100.0}
{"id": "MONDO:0008457", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 6", "equivalent_identifiers": ["MONDO:0008457", "DOID:0050956", "OMIM:183086", "orphanet:98758", "UMLS:C0752124", "NCIT:C142838", "SNOMEDCT:715752006", "medgen:148458", "icd11.foundation:1056119281"], "information_content": 100.0}
{"id": "MONDO:0014626", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 41", "equivalent_identifiers": ["MONDO:0014626", "DOID:0111744", "OMIM:616410", "orphanet:458798", "EFO:0009058", "UMLS:C4225158", "SNOMEDCT:1208512000", "medgen:908281"], "information_content": 100.0}
{"id": "MONDO:0033482", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia 47", "equivalent_identifiers": ["MONDO:0033482", "DOID:0111743", "orphanet:642747", "UMLS:C4693672", "SNOMEDCT:1260097007", "medgen:1636349"], "information_content": 100.0}
{"id": "MONDO:0011439", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spinocerebellar ataxia type 12", "equivalent_identifiers": ["MONDO:0011439", "DOID:0050962", "OMIM:604326", "orphanet:98762", "UMLS:C1858501", "MESH:C565790", "NCIT:C154316", "SNOMEDCT:719208005", "medgen:347653", "icd11.foundation:1210063722"], "information_content": 100.0}
{"id": "NCBIGene:283489", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHAMP1", "equivalent_identifiers": ["NCBIGene:283489", "ENSEMBL:ENSG00000198824", "HGNC:20311", "OMIM:616327", "UMLS:C2681145", "UniProtKB:Q96JM3", "PR:Q96JM3", "ENSEMBL:ENSP00000354730", "ENSEMBL:ENSP00000354730.1", "ENSEMBL:ENSP00000494031", "ENSEMBL:ENSP00000494031.2", "ENSEMBL:ENSP00000495985", "ENSEMBL:ENSP00000495985.2", "ENSEMBL:ENSP00000496699", "ENSEMBL:ENSP00000496699.1", "ENSEMBL:ENSP00000515032", "ENSEMBL:ENSP00000515032.1", "ENSEMBL:ENSP00000515033", "ENSEMBL:ENSP00000515033.1", "UMLS:C2975971", "MESH:C555812"], "information_content": 95.4}
{"id": "UniProtKB:Q96JX3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein SERAC1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q96JX3-1", "PR:Q96JX3-1", "ENSEMBL:ENSP00000496731", "ENSEMBL:ENSP00000496731.1"], "information_content": 100.0}
{"id": "NCBIGene:8216", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LZTR1", "equivalent_identifiers": ["NCBIGene:8216", "ENSEMBL:ENSG00000099949", "HGNC:6742", "OMIM:600574", "UMLS:C1416947", "UniProtKB:A0A384NL67", "UMLS:C1701463", "MESH:C509917", "UniProtKB:Q8N653", "PR:Q8N653", "ENSEMBL:ENSP00000496779", "ENSEMBL:ENSP00000496779.1", "UMLS:C4285074"], "information_content": 92.8}
{"id": "NCBIGene:1299", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COL9A3", "equivalent_identifiers": ["NCBIGene:1299", "ENSEMBL:ENSG00000092758", "HGNC:2219", "OMIM:120270", "UMLS:C1413597", "UniProtKB:Q14050", "PR:Q14050", "ENSEMBL:ENSP00000496793", "ENSEMBL:ENSP00000496793.1", "UMLS:C0908143", "MESH:C120768"], "information_content": 82.6}
{"id": "UniProtKB:O00258-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guided entry of tail-anchored proteins factor 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00258-1", "PR:O00258-1", "ENSEMBL:ENSP00000496813", "ENSEMBL:ENSP00000496813.1"], "information_content": 100.0}
{"id": "MONDO:0001535", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vagus nerve disorder", "equivalent_identifiers": ["MONDO:0001535", "DOID:12491", "UMLS:C0152179", "MESH:D020421", "MEDDRA:10046966", "MEDDRA:10046967", "MEDDRA:10061403", "NCIT:C27591", "SNOMEDCT:73765005", "medgen:101824", "ICD10:G52.2", "ICD9:352.3"], "information_content": 90.9}
{"id": "NCBIGene:9636", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ISG15", "equivalent_identifiers": ["NCBIGene:9636", "ENSEMBL:ENSG00000187608", "HGNC:4053", "OMIM:147571", "UMLS:C1825621", "UniProtKB:P05161", "PR:P05161", "ENSEMBL:ENSP00000496832", "ENSEMBL:ENSP00000496832.1", "UMLS:C0385884", "UMLS:C3641846", "MESH:C074034"], "information_content": 89.4}
{"id": "UniProtKB:Q8TF01-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "arginine/serine-rich protein PNISR isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q8TF01-1", "PR:Q8TF01-1", "ENSEMBL:ENSP00000358242", "ENSEMBL:ENSP00000358242.5", "ENSEMBL:ENSP00000387997", "ENSEMBL:ENSP00000387997.1", "ENSEMBL:ENSP00000496842", "ENSEMBL:ENSP00000496842.1"], "information_content": 100.0}
{"id": "NCBIGene:3112", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HLA-DOB", "equivalent_identifiers": ["NCBIGene:3112", "ENSEMBL:ENSG00000241106", "HGNC:4937", "OMIM:600629", "UMLS:C1415566", "UniProtKB:P13765", "PR:P13765", "ENSEMBL:ENSP00000390020", "ENSEMBL:ENSP00000390020.2", "ENSEMBL:ENSP00000394783", "ENSEMBL:ENSP00000394783.2", "ENSEMBL:ENSP00000395780", "ENSEMBL:ENSP00000395780.2", "ENSEMBL:ENSP00000397268", "ENSEMBL:ENSP00000397268.2", "ENSEMBL:ENSP00000405108", "ENSEMBL:ENSP00000405108.2", "ENSEMBL:ENSP00000410390", "ENSEMBL:ENSP00000410390.2", "ENSEMBL:ENSP00000496848", "ENSEMBL:ENSP00000496848.1", "UMLS:C4084946", "UniProtKB:Q5QNS2"], "information_content": 90.9}
{"id": "NCBIGene:4036", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRP2", "equivalent_identifiers": ["NCBIGene:4036", "ENSEMBL:ENSG00000081479", "HGNC:6694", "OMIM:600073", "UMLS:C1416914", "UniProtKB:P98164", "PR:P98164", "ENSEMBL:ENSP00000496870", "ENSEMBL:ENSP00000496870.1", "UMLS:C3714574", "MESH:C000597357", "UniProtKB:Q7Z5C0", "UniProtKB:Q7Z5C1"], "information_content": 73.8}
{"id": "NCBIGene:79830", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZMYM1", "equivalent_identifiers": ["NCBIGene:79830", "ENSEMBL:ENSG00000197056", "HGNC:26253", "UMLS:C1428567", "UniProtKB:A0A1B0GXA6", "UniProtKB:B4DSJ9", "UniProtKB:Q5SVZ6", "PR:Q5SVZ6", "ENSEMBL:ENSP00000352920", "ENSEMBL:ENSP00000352920.4", "ENSEMBL:ENSP00000362427", "ENSEMBL:ENSP00000362427.1", "ENSEMBL:ENSP00000482579", "ENSEMBL:ENSP00000482579.1", "ENSEMBL:ENSP00000496876", "ENSEMBL:ENSP00000496876.1", "UniProtKB:Q9H5R2"], "information_content": 95.4}
{"id": "NCBIGene:100101490", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MCTS2", "equivalent_identifiers": ["NCBIGene:100101490", "ENSEMBL:ENSG00000101898", "HGNC:49760", "OMIM:620406", "UMLS:C3816770", "UniProtKB:A0A3B3IRV3", "PR:A0A3B3IRV3", "ENSEMBL:ENSP00000496921", "ENSEMBL:ENSP00000496921.1", "ENSEMBL:ENSP00000520739", "ENSEMBL:ENSP00000520739.1"], "information_content": 100.0}
{"id": "NCBIGene:3783", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNN4", "equivalent_identifiers": ["NCBIGene:3783", "ENSEMBL:ENSG00000104783", "HGNC:6293", "OMIM:602754", "UMLS:C1416611", "UniProtKB:O15554", "PR:O15554", "ENSEMBL:ENSP00000496939", "ENSEMBL:ENSP00000496939.1", "UMLS:C1447576", "MESH:C496923"], "information_content": 92.8}
{"id": "NCBIGene:84522", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JAGN1", "equivalent_identifiers": ["NCBIGene:84522", "ENSEMBL:ENSG00000171135", "HGNC:26926", "OMIM:616012", "UMLS:C1537430", "UniProtKB:Q8N5M9", "PR:Q8N5M9", "ENSEMBL:ENSP00000496942", "ENSEMBL:ENSP00000496942.1", "UMLS:C3883986", "UMLS:C5444652", "MESH:C000594489"], "information_content": 95.4}
{"id": "UniProtKB:O00159-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "unconventional myosin-Ic isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O00159-1", "PR:O00159-1", "ENSEMBL:ENSP00000496954", "ENSEMBL:ENSP00000496954.1"], "information_content": 100.0}
{"id": "UniProtKB:P11215-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integrin alpha-M isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P11215-2", "PR:P11215-2", "ENSEMBL:ENSP00000496959", "ENSEMBL:ENSP00000496959.1"], "information_content": 100.0}
{"id": "NCBIGene:647264", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LOC647264", "equivalent_identifiers": ["NCBIGene:647264", "ENSEMBL:ENSG00000285566", "UniProtKB:A0A3B3IRS2", "ENSEMBL:ENSP00000496978", "ENSEMBL:ENSP00000496978.1"]}
{"id": "NCBIGene:10573", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRPL28", "equivalent_identifiers": ["NCBIGene:10573", "ENSEMBL:ENSG00000086504", "HGNC:14484", "OMIM:604853", "UMLS:C1422690", "UniProtKB:Q13084", "PR:Q13084", "ENSEMBL:ENSP00000199706", "ENSEMBL:ENSP00000199706.7", "ENSEMBL:ENSP00000374326", "ENSEMBL:ENSP00000374326.2", "ENSEMBL:ENSP00000497004", "ENSEMBL:ENSP00000497004.1"], "information_content": 92.8}
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{"id": "NCBIGene:340096", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H3Y2", "equivalent_identifiers": ["NCBIGene:340096", "ENSEMBL:ENSG00000268799", "HGNC:43734", "UMLS:C5239999", "UniProtKB:P0DPK5", "ENSEMBL:ENSP00000497053", "ENSEMBL:ENSP00000497053.1", "UMLS:C5702572"]}
{"id": "NCBIGene:3480", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IGF1R", "equivalent_identifiers": ["NCBIGene:3480", "ENSEMBL:ENSG00000140443", "HGNC:5465", "OMIM:147370", "UMLS:C1334088", "UniProtKB:C9J5X1", "ENSEMBL:ENSP00000496919", "ENSEMBL:ENSP00000496919.1", "UniProtKB:P08069", "PR:P08069", "ENSEMBL:ENSP00000497069", "ENSEMBL:ENSP00000497069.1", "UMLS:C4044495", "UMLS:C4049897", "MESH:C000597236"], "information_content": 90.9}
{"id": "UniProtKB:Q99689-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fasciculation and elongation protein zeta-1 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:Q99689-1", "PR:Q99689-1", "ENSEMBL:ENSP00000278919", "ENSEMBL:ENSP00000278919.3", "ENSEMBL:ENSP00000497070", "ENSEMBL:ENSP00000497070.1"], "information_content": 100.0}
{"id": "UniProtKB:P16410-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytotoxic T-lymphocyte protein 4 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P16410-1", "PR:P16410-1", "ENSEMBL:ENSP00000497102", "ENSEMBL:ENSP00000497102.1"], "information_content": 100.0}
{"id": "NCBIGene:2916", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GRM6", "equivalent_identifiers": ["NCBIGene:2916", "ENSEMBL:ENSG00000113262", "HGNC:4598", "OMIM:604096", "UMLS:C1333713", "UniProtKB:O15303", "PR:O15303", "ENSEMBL:ENSP00000231188", "ENSEMBL:ENSP00000231188.5", "ENSEMBL:ENSP00000430767", "ENSEMBL:ENSP00000430767.1", "ENSEMBL:ENSP00000497110", "ENSEMBL:ENSP00000497110.1", "UMLS:C3502004", "MESH:C576075"], "information_content": 95.4}
{"id": "NCBIGene:3209", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HOXA13", "equivalent_identifiers": ["NCBIGene:3209", "ENSEMBL:ENSG00000106031", "HGNC:5102", "OMIM:142959", "UMLS:C1415655", "UniProtKB:P31271", "PR:P31271", "ENSEMBL:ENSP00000497112", "ENSEMBL:ENSP00000497112.1", "UMLS:C1568678", "UniProtKB:Q6DI00"], "information_content": 100.0}
{"id": "NCBIGene:8893", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF2B5", "equivalent_identifiers": ["NCBIGene:8893", "ENSEMBL:ENSG00000145191", "HGNC:3261", "OMIM:603945", "UMLS:C1414331", "UniProtKB:A0A3B3ISX3", "ENSEMBL:ENSP00000497503", "ENSEMBL:ENSP00000497503.1", "UniProtKB:Q13144", "PR:Q13144", "ENSEMBL:ENSP00000497160", "ENSEMBL:ENSP00000497160.1", "UMLS:C1522422", "MESH:C000624288"], "information_content": 89.4}
{"id": "UniProtKB:Q16517-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "neuronatin isoform Alpha (human)", "equivalent_identifiers": ["UniProtKB:Q16517-1", "PR:Q16517-1", "ENSEMBL:ENSP00000497164", "ENSEMBL:ENSP00000497164.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NCM8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cytoplasmic dynein 2 heavy chain 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8NCM8-2", "PR:Q8NCM8-2", "ENSEMBL:ENSP00000497174", "ENSEMBL:ENSP00000497174.1"], "information_content": 100.0}
{"id": "NCBIGene:64396", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GMCL2", "equivalent_identifiers": ["NCBIGene:64396", "ENSEMBL:ENSG00000244234", "HGNC:19717", "OMIM:618629", "UMLS:C1825379", "UniProtKB:Q8NEA9", "PR:Q8NEA9", "ENSEMBL:ENSP00000497178", "ENSEMBL:ENSP00000497178.1"], "information_content": 100.0}
{"id": "MONDO:0003232", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alcoholic pancreatitis", "equivalent_identifiers": ["MONDO:0003232", "DOID:4988", "EFO:1002013", "UMLS:C0376670", "MESH:D019512", "MEDDRA:10056977", "SNOMEDCT:445507008", "medgen:84027"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXH8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen and calcium-binding EGF domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXH8-1", "PR:Q6UXH8-1", "ENSEMBL:ENSP00000404464", "ENSEMBL:ENSP00000404464.2", "ENSEMBL:ENSP00000497183", "ENSEMBL:ENSP00000497183.1"], "information_content": 100.0}
{"id": "UniProtKB:O95361-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tripartite motif-containing protein 16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O95361-1", "PR:O95361-1", "ENSEMBL:ENSP00000338989", "ENSEMBL:ENSP00000338989.7", "ENSEMBL:ENSP00000463188", "ENSEMBL:ENSP00000463188.1", "ENSEMBL:ENSP00000497185", "ENSEMBL:ENSP00000497185.2"], "information_content": 100.0}
{"id": "NCBIGene:668", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXL2", "equivalent_identifiers": ["NCBIGene:668", "ENSEMBL:ENSG00000183770", "HGNC:1092", "OMIM:605597", "UMLS:C1412815", "UniProtKB:P58012", "PR:P58012", "ENSEMBL:ENSP00000497217", "ENSEMBL:ENSP00000497217.1", "UMLS:C1447899", "MESH:C421604", "UniProtKB:Q53ZD3"], "information_content": 95.4}
{"id": "UniProtKB:Q9Y287-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "integral membrane protein 2B isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y287-1", "PR:Q9Y287-1", "ENSEMBL:ENSP00000497221", "ENSEMBL:ENSP00000497221.1"], "information_content": 100.0}
{"id": "UniProtKB:Q7L5Y1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mitochondrial enolase superfamily member 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q7L5Y1-1", "PR:Q7L5Y1-1", "ENSEMBL:ENSP00000497230", "ENSEMBL:ENSP00000497230.2"], "information_content": 100.0}
{"id": "UniProtKB:P22557-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P22557-1", "PR:P22557-1", "ENSEMBL:ENSP00000497236", "ENSEMBL:ENSP00000497236.1"], "information_content": 100.0}
{"id": "MONDO:0008316", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "thrombophilia due to protein C deficiency, autosomal dominant", "equivalent_identifiers": ["MONDO:0008316", "DOID:0111909", "OMIM:176860", "UMLS:C2674321", "UMLS:C2674322", "MESH:C567163", "MESH:C567164", "SNOMEDCT:1217410004", "medgen:436138"], "information_content": 100.0}
{"id": "NCBIGene:1414", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRYBB1", "equivalent_identifiers": ["NCBIGene:1414", "ENSEMBL:ENSG00000100122", "HGNC:2397", "OMIM:600929", "UMLS:C1413729", "UniProtKB:P53674", "PR:P53674", "ENSEMBL:ENSP00000497249", "ENSEMBL:ENSP00000497249.1", "UMLS:C0538274", "MESH:C105601"], "information_content": 100.0}
{"id": "NCBIGene:113730", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KLHDC7B", "equivalent_identifiers": ["NCBIGene:113730", "ENSEMBL:ENSG00000130487", "HGNC:25145", "OMIM:620521", "UMLS:C1825721", "UniProtKB:A0A3B3ISF6", "ENSEMBL:ENSP00000497256", "ENSEMBL:ENSP00000497256.1", "UniProtKB:Q96G42", "PR:Q96G42", "ENSEMBL:ENSP00000379034", "ENSEMBL:ENSP00000379034.2", "UMLS:C5565404", "MESH:C000719988"]}
{"id": "UniProtKB:P63096-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "guanine nucleotide-binding protein G(i) subunit alpha-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P63096-1", "PR:P63096-1", "ENSEMBL:ENSP00000343027", "ENSEMBL:ENSP00000343027.3", "ENSEMBL:ENSP00000391439", "ENSEMBL:ENSP00000391439.2", "ENSEMBL:ENSP00000496800", "ENSEMBL:ENSP00000496800.1", "ENSEMBL:ENSP00000496829", "ENSEMBL:ENSP00000496829.1", "ENSEMBL:ENSP00000497051", "ENSEMBL:ENSP00000497051.1", "ENSEMBL:ENSP00000497179", "ENSEMBL:ENSP00000497179.1", "ENSEMBL:ENSP00000497260", "ENSEMBL:ENSP00000497260.1", "ENSEMBL:ENSP00000497315", "ENSEMBL:ENSP00000497315.1", "ENSEMBL:ENSP00000497379", "ENSEMBL:ENSP00000497379.1", "ENSEMBL:ENSP00000497717", "ENSEMBL:ENSP00000497717.1", "ENSEMBL:ENSP00000497754", "ENSEMBL:ENSP00000497754.1", "ENSEMBL:ENSP00000497760", "ENSEMBL:ENSP00000497760.1", "ENSEMBL:ENSP00000497765", "ENSEMBL:ENSP00000497765.1", "ENSEMBL:ENSP00000497773", "ENSEMBL:ENSP00000497773.1", "ENSEMBL:ENSP00000498091", "ENSEMBL:ENSP00000498091.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BYX4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interferon-induced helicase C domain-containing protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BYX4-1", "PR:Q9BYX4-1", "ENSEMBL:ENSP00000497271", "ENSEMBL:ENSP00000497271.1"], "information_content": 100.0}
{"id": "NCBIGene:1244", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABCC2", "equivalent_identifiers": ["NCBIGene:1244", "ENSEMBL:ENSG00000023839", "HGNC:53", "OMIM:601107", "UMLS:C1412077", "UniProtKB:Q92887", "PR:Q92887", "ENSEMBL:ENSP00000497274", "ENSEMBL:ENSP00000497274.1", "UMLS:C3540577", "UMLS:C5564731", "MESH:C000715087"], "information_content": 88.2}
{"id": "UniProtKB:Q53H12-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acylglycerol kinase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q53H12-1", "PR:Q53H12-1", "ENSEMBL:ENSP00000496789", "ENSEMBL:ENSP00000496789.1", "ENSEMBL:ENSP00000497280", "ENSEMBL:ENSP00000497280.1", "ENSEMBL:ENSP00000498112", "ENSEMBL:ENSP00000498112.1"], "information_content": 100.0}
{"id": "UniProtKB:P33151-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "cadherin-5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P33151-1", "PR:P33151-1", "ENSEMBL:ENSP00000344115", "ENSEMBL:ENSP00000344115.3", "ENSEMBL:ENSP00000497290", "ENSEMBL:ENSP00000497290.1"], "information_content": 100.0}
{"id": "NCBIGene:3972", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LHB", "equivalent_identifiers": ["NCBIGene:3972", "ENSEMBL:ENSG00000104826", "HGNC:6584", "OMIM:152780", "UMLS:C1416842", "UniProtKB:A0A0F7RQE6", "UniProtKB:P01229", "PR:P01229", "ENSEMBL:ENSP00000497294", "ENSEMBL:ENSP00000497294.2", "UMLS:C0065261", "MESH:D037101"], "information_content": 80.2}
{"id": "UniProtKB:A0A3B3ISG8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A3B3ISG8_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial (trembl)", "equivalent_identifiers": ["UniProtKB:A0A3B3ISG8", "ENSEMBL:ENSP00000497305", "ENSEMBL:ENSP00000497305.1"]}
{"id": "NCBIGene:57683", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZDBF2", "equivalent_identifiers": ["NCBIGene:57683", "ENSEMBL:ENSG00000204186", "HGNC:29313", "OMIM:617059", "UMLS:C2240188", "UniProtKB:N0DVB2", "UMLS:C4548718", "MESH:C000624166", "UniProtKB:N0DVX5", "UniProtKB:Q9HCK1", "PR:Q9HCK1", "ENSEMBL:ENSP00000363545", "ENSEMBL:ENSP00000363545.3", "ENSEMBL:ENSP00000490610", "ENSEMBL:ENSP00000490610.1", "ENSEMBL:ENSP00000497308", "ENSEMBL:ENSP00000497308.1", "ENSEMBL:ENSP00000498089", "ENSEMBL:ENSP00000498089.1"], "information_content": 95.4}
{"id": "NCBIGene:257", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALX3", "equivalent_identifiers": ["NCBIGene:257", "ENSEMBL:ENSG00000156150", "HGNC:449", "OMIM:606014", "UMLS:C1412372", "UniProtKB:O95076", "PR:O95076", "ENSEMBL:ENSP00000497310", "ENSEMBL:ENSP00000497310.1", "UMLS:C1436439", "MESH:C485163"], "information_content": 92.8}
{"id": "UniProtKB:P36551-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P36551-1", "PR:P36551-1", "ENSEMBL:ENSP00000497326", "ENSEMBL:ENSP00000497326.1"], "information_content": 100.0}
{"id": "NCBIGene:8139", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GAN", "equivalent_identifiers": ["NCBIGene:8139", "ENSEMBL:ENSG00000261609", "HGNC:4137", "OMIM:605379", "UMLS:C1414964", "UniProtKB:A0A0S2Z4W2", "UMLS:C1571534", "MESH:C416508", "UniProtKB:B3KTC3", "UniProtKB:Q9H2C0", "PR:Q9H2C0", "ENSEMBL:ENSP00000497351", "ENSEMBL:ENSP00000497351.1", "ENSEMBL:ENSP00000520738", "ENSEMBL:ENSP00000520738.1", "UMLS:C3810578"], "information_content": 90.9}
{"id": "NCBIGene:963", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CD53", "equivalent_identifiers": ["NCBIGene:963", "ENSEMBL:ENSG00000143119", "HGNC:1686", "OMIM:151525", "UMLS:C1413228", "UniProtKB:B4DQB5", "UMLS:C2975742", "MESH:C554894", "UniProtKB:P19397", "PR:P19397", "ENSEMBL:ENSP00000271324", "ENSEMBL:ENSP00000271324.5", "ENSEMBL:ENSP00000497382", "ENSEMBL:ENSP00000497382.1"], "information_content": 90.9}
{"id": "UniProtKB:P18754-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "regulator of chromosome condensation isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P18754-2", "PR:P18754-2", "ENSEMBL:ENSP00000362937", "ENSEMBL:ENSP00000362937.3", "ENSEMBL:ENSP00000497402", "ENSEMBL:ENSP00000497402.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y6X0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "SET-binding protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y6X0-1", "PR:Q9Y6X0-1", "ENSEMBL:ENSP00000497406", "ENSEMBL:ENSP00000497406.1", "ENSEMBL:ENSP00000502995", "ENSEMBL:ENSP00000502995.1", "ENSEMBL:ENSP00000503094", "ENSEMBL:ENSP00000503094.1", "ENSEMBL:ENSP00000503656", "ENSEMBL:ENSP00000503656.1", "ENSEMBL:ENSP00000504398", "ENSEMBL:ENSP00000504398.1"], "information_content": 100.0}
{"id": "NCBIGene:79738", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BBS10", "equivalent_identifiers": ["NCBIGene:79738", "ENSEMBL:ENSG00000179941", "HGNC:26291", "OMIM:610148", "UMLS:C1826413", "UniProtKB:Q8TAM1", "PR:Q8TAM1", "ENSEMBL:ENSP00000497413", "ENSEMBL:ENSP00000497413.1", "UMLS:C1723606", "MESH:C512111"], "information_content": 100.0}
{"id": "MONDO:0006578", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mediastinal lipomatosis", "equivalent_identifiers": ["MONDO:0006578", "DOID:3926", "EFO:1000732", "UMLS:C1334662", "NCIT:C27488", "medgen:233682"], "information_content": 100.0}
{"id": "UniProtKB:P78383-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "solute carrier family 35 member B1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P78383-2", "PR:P78383-2", "ENSEMBL:ENSP00000497423", "ENSEMBL:ENSP00000497423.1"], "information_content": 100.0}
{"id": "NCBIGene:4043", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRPAP1", "equivalent_identifiers": ["NCBIGene:4043", "ENSEMBL:ENSG00000163956", "HGNC:6701", "OMIM:104225", "UMLS:C1416920", "UniProtKB:P30533", "PR:P30533", "ENSEMBL:ENSP00000497444", "ENSEMBL:ENSP00000497444.1", "UMLS:C5891027"], "information_content": 95.4}
{"id": "NCBIGene:1349", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "COX7B", "equivalent_identifiers": ["NCBIGene:1349", "ENSEMBL:ENSG00000131174", "HGNC:2291", "OMIM:300885", "UMLS:C1413658", "UniProtKB:P24311", "PR:P24311", "ENSEMBL:ENSP00000497474", "ENSEMBL:ENSP00000497474.1", "UMLS:C1566091", "MESH:C496843"], "information_content": 92.8}
{"id": "UniProtKB:Q9UL68-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myelin transcription factor 1-like protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UL68-1", "PR:Q9UL68-1", "ENSEMBL:ENSP00000396103", "ENSEMBL:ENSP00000396103.3", "ENSEMBL:ENSP00000497479", "ENSEMBL:ENSP00000497479.2", "ENSEMBL:ENSP00000497722", "ENSEMBL:ENSP00000497722.1"], "information_content": 100.0}
{"id": "NCBIGene:388015", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RTL1", "equivalent_identifiers": ["NCBIGene:388015", "ENSEMBL:ENSG00000254656", "HGNC:14665", "OMIM:611896", "UMLS:C1826950", "UniProtKB:A6NKG5", "PR:A6NKG5", "ENSEMBL:ENSP00000497482", "ENSEMBL:ENSP00000497482.1", "UMLS:C3657719", "MESH:C579465", "UniProtKB:B9EK54"], "information_content": 100.0}
{"id": "NCBIGene:50846", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DHH", "equivalent_identifiers": ["NCBIGene:50846", "ENSEMBL:ENSG00000139549", "HGNC:2865", "OMIM:605423", "UMLS:C1414044", "UniProtKB:O43323", "PR:O43323", "ENSEMBL:ENSP00000497483", "ENSEMBL:ENSP00000497483.1", "UMLS:C1701852", "MESH:C509245"], "information_content": 95.4}
{"id": "ENSEMBL:ENSP00000497509", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000497509", "equivalent_identifiers": ["ENSEMBL:ENSP00000497509"]}
{"id": "UniProtKB:Q9Y2H2-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phosphatidylinositide phosphatase SAC2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2H2-1", "PR:Q9Y2H2-1", "ENSEMBL:ENSP00000497527", "ENSEMBL:ENSP00000497527.1"], "information_content": 100.0}
{"id": "MONDO:0012640", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charcot-Marie-Tooth disease type 4J", "equivalent_identifiers": ["MONDO:0012640", "DOID:0110184", "OMIM:611228", "orphanet:139515", "UMLS:C1970011", "MESH:C566984", "NCIT:C134954", "SNOMEDCT:720638000", "medgen:370808", "icd11.foundation:905681283"], "information_content": 100.0}
{"id": "NCBIGene:54977", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A38", "equivalent_identifiers": ["NCBIGene:54977", "ENSEMBL:ENSG00000144659", "HGNC:26054", "OMIM:610819", "UMLS:C1822747", "UniProtKB:A0A2R8Y823", "ENSEMBL:ENSP00000496690", "ENSEMBL:ENSP00000496690.1", "UniProtKB:Q96DW6", "PR:Q96DW6", "ENSEMBL:ENSP00000497532", "ENSEMBL:ENSP00000497532.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6UXB8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidase inhibitor 16 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6UXB8-1", "PR:Q6UXB8-1", "ENSEMBL:ENSP00000362778", "ENSEMBL:ENSP00000362778.3", "ENSEMBL:ENSP00000478888", "ENSEMBL:ENSP00000478888.1", "ENSEMBL:ENSP00000497550", "ENSEMBL:ENSP00000497550.1"], "information_content": 100.0}
{"id": "NCBIGene:55157", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DARS2", "equivalent_identifiers": ["NCBIGene:55157", "ENSEMBL:ENSG00000117593", "HGNC:25538", "OMIM:610956", "UMLS:C1824885", "UniProtKB:A0A3B3IT01", "ENSEMBL:ENSP00000497472", "ENSEMBL:ENSP00000497472.1", "UniProtKB:A0A3B3ITS3", "ENSEMBL:ENSP00000497874", "ENSEMBL:ENSP00000497874.1", "UniProtKB:Q6PI48", "PR:Q6PI48", "ENSEMBL:ENSP00000497569", "ENSEMBL:ENSP00000497569.1", "UMLS:C3181631", "MESH:C558608", "UniProtKB:Q9H9J7"], "information_content": 95.4}
{"id": "NCBIGene:2729", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GCLC", "equivalent_identifiers": ["NCBIGene:2729", "ENSEMBL:ENSG00000001084", "HGNC:4311", "OMIM:606857", "UMLS:C1415097", "UniProtKB:E1CEI4", "ENSEMBL:ENSP00000424211", "ENSEMBL:ENSP00000424211.2", "UniProtKB:P48506", "PR:P48506", "ENSEMBL:ENSP00000497574", "ENSEMBL:ENSP00000497574.1", "UMLS:C1522376", "MESH:C000609392", "UniProtKB:Q14TF0"], "information_content": 88.2}
{"id": "ENSEMBL:ENSP00000497585", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ENSP00000497585", "equivalent_identifiers": ["ENSEMBL:ENSP00000497585"]}
{"id": "UniProtKB:P49821-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P49821-1", "PR:P49821-1", "ENSEMBL:ENSP00000322450", "ENSEMBL:ENSP00000322450.6", "ENSEMBL:ENSP00000497587", "ENSEMBL:ENSP00000497587.1"], "information_content": 100.0}
{"id": "NCBIGene:7803", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PTP4A1", "equivalent_identifiers": ["NCBIGene:7803", "ENSEMBL:ENSG00000112245", "HGNC:9634", "OMIM:601585", "UMLS:C1335279", "UniProtKB:Q93096", "PR:Q93096", "ENSEMBL:ENSP00000485687", "ENSEMBL:ENSP00000485687.1", "ENSEMBL:ENSP00000497588", "ENSEMBL:ENSP00000497588.1", "ENSEMBL:ENSP00000500859", "ENSEMBL:ENSP00000500859.1", "ENSEMBL:ENSP00000500952", "ENSEMBL:ENSP00000500952.1", "UMLS:C1335552", "MESH:C490198"], "information_content": 95.4}
{"id": "UniProtKB:Q9NPJ4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "proline-rich nuclear receptor coactivator 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NPJ4-1", "PR:Q9NPJ4-1", "ENSEMBL:ENSP00000334840", "ENSEMBL:ENSP00000334840.7", "ENSEMBL:ENSP00000363592", "ENSEMBL:ENSP00000363592.1", "ENSEMBL:ENSP00000497590", "ENSEMBL:ENSP00000497590.1"], "information_content": 100.0}
{"id": "UniProtKB:Q05086-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-protein ligase E3A isoform II (human)", "equivalent_identifiers": ["UniProtKB:Q05086-1", "PR:Q05086-1", "ENSEMBL:ENSP00000497594", "ENSEMBL:ENSP00000497594.1"], "information_content": 100.0}
{"id": "NCBIGene:54617", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "INO80", "equivalent_identifiers": ["NCBIGene:54617", "ENSEMBL:ENSG00000128908", "HGNC:26956", "OMIM:610169", "UMLS:C1857796", "UniProtKB:Q9ULG1", "PR:Q9ULG1", "ENSEMBL:ENSP00000497609", "ENSEMBL:ENSP00000497609.1", "UMLS:C2001250", "MESH:C524421"], "information_content": 100.0}
{"id": "MONDO:0001041", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dentin caries", "equivalent_identifiers": ["MONDO:0001041", "DOID:10461", "UMLS:C0266846", "SNOMEDCT:442551007", "medgen:540210", "ICD10:K02", "ICD9:521.02"], "information_content": 100.0}
{"id": "NCBIGene:9775", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EIF4A3", "equivalent_identifiers": ["NCBIGene:9775", "ENSEMBL:ENSG00000141543", "HGNC:18683", "OMIM:608546", "UMLS:C1825045", "UniProtKB:I3L3H2", "ENSEMBL:ENSP00000460439", "ENSEMBL:ENSP00000460439.2", "ENSEMBL:ENSP00000516986", "ENSEMBL:ENSP00000516986.1", "UniProtKB:P38919", "PR:P38919", "ENSEMBL:ENSP00000497641", "ENSEMBL:ENSP00000497641.1", "ENSEMBL:ENSP00000497661", "ENSEMBL:ENSP00000497661.1", "ENSEMBL:ENSP00000516984", "ENSEMBL:ENSP00000516984.1", "ENSEMBL:ENSP00000516985", "ENSEMBL:ENSP00000516985.1", "UMLS:C1438724", "MESH:C403493"], "information_content": 87.2}
{"id": "NCBIGene:4023", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LPL", "equivalent_identifiers": ["NCBIGene:4023", "ENSEMBL:ENSG00000175445", "HGNC:6677", "OMIM:609708", "UMLS:C1416902", "UniProtKB:A0A1B1RVA9", "UniProtKB:P06858", "PR:P06858", "ENSEMBL:ENSP00000497642", "ENSEMBL:ENSP00000497642.1", "UMLS:C2932881", "MESH:C548261"], "information_content": 95.4}
{"id": "NCBIGene:360200", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TMPRSS9", "equivalent_identifiers": ["NCBIGene:360200", "ENSEMBL:ENSG00000178297", "HGNC:30079", "OMIM:610477", "UMLS:C1428929", "UniProtKB:A0A3B3IU58", "ENSEMBL:ENSP00000498031", "ENSEMBL:ENSP00000498031.1", "ENSEMBL:ENSP00000512457", "ENSEMBL:ENSP00000512457.1", "UniProtKB:Q7Z410", "PR:Q7Z410", "ENSEMBL:ENSP00000497651", "ENSEMBL:ENSP00000497651.1"], "information_content": 92.8}
{"id": "UniProtKB:Q9UMD9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "collagen alpha-1(XVII) chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UMD9-1", "PR:Q9UMD9-1", "ENSEMBL:ENSP00000497653", "ENSEMBL:ENSP00000497653.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9NUN5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "lysosomal cobalamin transport escort protein LMBD1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9NUN5-1", "PR:Q9NUN5-1", "ENSEMBL:ENSP00000497690", "ENSEMBL:ENSP00000497690.1"], "information_content": 100.0}
{"id": "UniProtKB:Q06481-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "amyloid beta precursor like protein 2 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q06481-1", "PR:Q06481-1", "ENSEMBL:ENSP00000263574", "ENSEMBL:ENSP00000263574.5", "ENSEMBL:ENSP00000497691", "ENSEMBL:ENSP00000497691.1"], "information_content": 100.0}
{"id": "UniProtKB:O95866-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "megakaryocyte and platelet inhibitory receptor G6b isoform B (human)", "equivalent_identifiers": ["UniProtKB:O95866-1", "PR:O95866-1", "ENSEMBL:ENSP00000382944", "ENSEMBL:ENSP00000382944.3", "ENSEMBL:ENSP00000391097", "ENSEMBL:ENSP00000391097.2", "ENSEMBL:ENSP00000406706", "ENSEMBL:ENSP00000406706.2", "ENSEMBL:ENSP00000408430", "ENSEMBL:ENSP00000408430.2", "ENSEMBL:ENSP00000416447", "ENSEMBL:ENSP00000416447.2", "ENSEMBL:ENSP00000497720", "ENSEMBL:ENSP00000497720.1"], "information_content": 100.0}
{"id": "NCBIGene:80153", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "EDC3", "equivalent_identifiers": ["NCBIGene:80153", "ENSEMBL:ENSG00000179151", "HGNC:26114", "OMIM:609842", "UMLS:C1825025", "UniProtKB:Q96F86", "PR:Q96F86", "ENSEMBL:ENSP00000320503", "ENSEMBL:ENSP00000320503.4", "ENSEMBL:ENSP00000401343", "ENSEMBL:ENSP00000401343.3", "ENSEMBL:ENSP00000455580", "ENSEMBL:ENSP00000455580.1", "ENSEMBL:ENSP00000497737", "ENSEMBL:ENSP00000497737.1", "UMLS:C2002318", "MESH:C525042"], "information_content": 89.4}
{"id": "UniProtKB:P17812-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CTP synthase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P17812-1", "PR:P17812-1", "ENSEMBL:ENSP00000361699", "ENSEMBL:ENSP00000361699.1", "ENSEMBL:ENSP00000497602", "ENSEMBL:ENSP00000497602.1", "ENSEMBL:ENSP00000497744", "ENSEMBL:ENSP00000497744.1", "ENSEMBL:ENSP00000497901", "ENSEMBL:ENSP00000497901.2"], "information_content": 100.0}
{"id": "NCBIGene:168667", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BMPER", "equivalent_identifiers": ["NCBIGene:168667", "ENSEMBL:ENSG00000164619", "HGNC:24154", "OMIM:608699", "UMLS:C1826624", "UniProtKB:A0A090N7U6", "UMLS:C1311128", "MESH:C476724", "UniProtKB:A0A3B3ITW7", "ENSEMBL:ENSP00000497963", "ENSEMBL:ENSP00000497963.1", "UniProtKB:Q8N8U9", "PR:Q8N8U9", "ENSEMBL:ENSP00000297161", "ENSEMBL:ENSP00000297161.2", "ENSEMBL:ENSP00000497748", "ENSEMBL:ENSP00000497748.1"], "information_content": 95.4}
{"id": "NCBIGene:2303", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FOXC2", "equivalent_identifiers": ["NCBIGene:2303", "ENSEMBL:ENSG00000176692", "HGNC:3801", "OMIM:602402", "UMLS:C1414669", "UniProtKB:Q99958", "PR:Q99958", "ENSEMBL:ENSP00000497759", "ENSEMBL:ENSP00000497759.1", "UMLS:C1567684"], "information_content": 92.8}
{"id": "NCBIGene:229", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALDOB", "equivalent_identifiers": ["NCBIGene:229", "ENSEMBL:ENSG00000136872", "HGNC:417", "OMIM:612724", "UMLS:C1412347", "UniProtKB:P05062", "PR:P05062", "ENSEMBL:ENSP00000497731", "ENSEMBL:ENSP00000497731.1", "ENSEMBL:ENSP00000497767", "ENSEMBL:ENSP00000497767.1", "ENSEMBL:ENSP00000497990", "ENSEMBL:ENSP00000497990.1", "UMLS:C5882350", "MESH:C000730079"], "information_content": 89.4}
{"id": "UniProtKB:P16452-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein 4.2 isoform Long (human)", "equivalent_identifiers": ["UniProtKB:P16452-2", "PR:P16452-2", "ENSEMBL:ENSP00000497777", "ENSEMBL:ENSP00000497777.1"], "information_content": 100.0}
{"id": "NCBIGene:242", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALOX12B", "equivalent_identifiers": ["NCBIGene:242", "ENSEMBL:ENSG00000179477", "HGNC:430", "OMIM:603741", "UMLS:C1412357", "UniProtKB:O75342", "PR:O75342", "ENSEMBL:ENSP00000497784", "ENSEMBL:ENSP00000497784.1", "UMLS:C1744333", "UMLS:C3272721", "MESH:C514086"], "information_content": 95.4}
{"id": "UniProtKB:P78352-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "disks large homolog 4 isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:P78352-2", "PR:P78352-2", "ENSEMBL:ENSP00000497806", "ENSEMBL:ENSP00000497806.3"], "information_content": 100.0}
{"id": "NCBIGene:54551", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAGEL2", "equivalent_identifiers": ["NCBIGene:54551", "ENSEMBL:ENSG00000254585", "HGNC:6814", "OMIM:605283", "UMLS:C1416986", "UniProtKB:Q9UJ55", "PR:Q9UJ55", "ENSEMBL:ENSP00000497810", "ENSEMBL:ENSP00000497810.1", "ENSEMBL:ENSP00000499864", "ENSEMBL:ENSP00000499864.1", "ENSEMBL:ENSP00000500572", "ENSEMBL:ENSP00000500572.1", "UMLS:C1435467", "MESH:C510822"], "information_content": 95.4}
{"id": "UniProtKB:O43299-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "AP-5 complex subunit zeta-1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O43299-1", "PR:O43299-1", "ENSEMBL:ENSP00000497815", "ENSEMBL:ENSP00000497815.1"], "information_content": 100.0}
{"id": "NCBIGene:1145", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CHRNE", "equivalent_identifiers": ["NCBIGene:1145", "ENSEMBL:ENSG00000108556", "HGNC:1966", "OMIM:100725", "UMLS:C1413412", "UniProtKB:Q04844", "PR:Q04844", "ENSEMBL:ENSP00000497829", "ENSEMBL:ENSP00000497829.1", "UMLS:C1609961", "MESH:C504423"], "information_content": 90.9}
{"id": "UniProtKB:A0A3B3ITS8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A3B3ITS8_HUMAN DNA primase AEP (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A3B3ITS8", "ENSEMBL:ENSP00000497880", "ENSEMBL:ENSP00000497880.1"]}
{"id": "MONDO:0011076", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "myofibrillar myopathy 1", "equivalent_identifiers": ["MONDO:0011076", "DOID:0080092", "OMIM:601419", "orphanet:98909", "UMLS:C1832370", "MESH:C563319", "SNOMEDCT:770627003", "medgen:330449"], "information_content": 100.0}
{"id": "NCBIGene:5205", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ATP8B1", "equivalent_identifiers": ["NCBIGene:5205", "ENSEMBL:ENSG00000081923", "HGNC:3706", "OMIM:602397", "UMLS:C1414614", "UniProtKB:O43520", "PR:O43520", "ENSEMBL:ENSP00000497896", "ENSEMBL:ENSP00000497896.1", "UMLS:C1312853", "MESH:C111067"], "information_content": 90.9}
{"id": "NCBIGene:567", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B2M", "equivalent_identifiers": ["NCBIGene:567", "ENSEMBL:ENSG00000166710", "HGNC:914", "OMIM:109700", "UMLS:C1412709", "UniProtKB:P61769", "PR:P61769", "ENSEMBL:ENSP00000453191", "ENSEMBL:ENSP00000453191.1", "ENSEMBL:ENSP00000453350", "ENSEMBL:ENSP00000453350.1", "ENSEMBL:ENSP00000481426", "ENSEMBL:ENSP00000481426.1", "ENSEMBL:ENSP00000488321", "ENSEMBL:ENSP00000488321.1", "ENSEMBL:ENSP00000488548", "ENSEMBL:ENSP00000488548.1", "ENSEMBL:ENSP00000497910", "ENSEMBL:ENSP00000497910.1"], "information_content": 84.8}
{"id": "UniProtKB:Q9HBE4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-21 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBE4-1", "PR:Q9HBE4-1", "ENSEMBL:ENSP00000497915", "ENSEMBL:ENSP00000497915.1"], "information_content": 100.0}
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{"id": "NCBIGene:8647", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ABCB11", "equivalent_identifiers": ["NCBIGene:8647", "ENSEMBL:ENSG00000073734", "HGNC:42", "OMIM:603201", "UMLS:C1412070", "UniProtKB:O95342", "PR:O95342", "ENSEMBL:ENSP00000497931", "ENSEMBL:ENSP00000497931.1", "UMLS:C1313221", "MESH:C093491"], "information_content": 89.4}
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{"id": "NCBIGene:3605", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "IL17A", "equivalent_identifiers": ["NCBIGene:3605", "ENSEMBL:ENSG00000112115", "HGNC:5981", "OMIM:603149", "UMLS:C1825592", "UniProtKB:Q16552", "PR:Q16552", "ENSEMBL:ENSP00000497968", "ENSEMBL:ENSP00000497968.1", "UMLS:C1701790", "MESH:C508717"], "information_content": 95.4}
{"id": "UniProtKB:Q9UDY8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UDY8-1", "PR:Q9UDY8-1", "ENSEMBL:ENSP00000497997", "ENSEMBL:ENSP00000497997.1"], "information_content": 100.0}
{"id": "NCBIGene:6218", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS17", "equivalent_identifiers": ["NCBIGene:6218", "ENSEMBL:ENSG00000182774", "HGNC:10397", "OMIM:180472", "UMLS:C1419713", "UniProtKB:P08708", "PR:P08708", "ENSEMBL:ENSP00000483755", "ENSEMBL:ENSP00000483755.1", "ENSEMBL:ENSP00000498019", "ENSEMBL:ENSP00000498019.1", "UMLS:C5445013"], "information_content": 90.9}
{"id": "NCBIGene:64858", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DCLRE1B", "equivalent_identifiers": ["NCBIGene:64858", "ENSEMBL:ENSG00000118655", "HGNC:17641", "OMIM:609683", "UMLS:C1425019", "UniProtKB:Q9H816", "PR:Q9H816", "ENSEMBL:ENSP00000498042", "ENSEMBL:ENSP00000498042.1", "UMLS:C1529681", "MESH:C493741"], "information_content": 95.4}
{"id": "NCBIGene:763", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CA5A", "equivalent_identifiers": ["NCBIGene:763", "ENSEMBL:ENSG00000174990", "HGNC:1377", "OMIM:114761", "UMLS:C1413046", "UniProtKB:A0A3B3IRX9", "ENSEMBL:ENSP00000496993", "ENSEMBL:ENSP00000496993.1", "UniProtKB:P35218", "PR:P35218", "ENSEMBL:ENSP00000498065", "ENSEMBL:ENSP00000498065.2"], "information_content": 85.5}
{"id": "UniProtKB:Q9BXL6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase recruitment domain-containing protein 14 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXL6-1", "PR:Q9BXL6-1", "ENSEMBL:ENSP00000344549", "ENSEMBL:ENSP00000344549.2", "ENSEMBL:ENSP00000458715", "ENSEMBL:ENSP00000458715.1", "ENSEMBL:ENSP00000498071", "ENSEMBL:ENSP00000498071.1", "ENSEMBL:ENSP00000516501", "ENSEMBL:ENSP00000516501.1"], "information_content": 100.0}
{"id": "NCBIGene:5167", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ENPP1", "equivalent_identifiers": ["NCBIGene:5167", "ENSEMBL:ENSG00000197594", "HGNC:3356", "OMIM:173335", "UMLS:C1414407", "UniProtKB:P22413", "PR:P22413", "ENSEMBL:ENSP00000498074", "ENSEMBL:ENSP00000498074.1", "UMLS:C1617587"], "information_content": 100.0}
{"id": "UniProtKB:Q9BUB5-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "MAP kinase-interacting serine/threonine-protein kinase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BUB5-1", "PR:Q9BUB5-1", "ENSEMBL:ENSP00000498083", "ENSEMBL:ENSP00000498083.1"], "information_content": 100.0}
{"id": "NCBIGene:8915", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BCL10", "equivalent_identifiers": ["NCBIGene:8915", "ENSEMBL:ENSG00000142867", "HGNC:989", "OMIM:603517", "UMLS:C1367449", "UniProtKB:A0A087WWW9", "ENSEMBL:ENSP00000480561", "ENSEMBL:ENSP00000480561.2", "UniProtKB:A2TDT2", "UniProtKB:O95999", "PR:O95999", "ENSEMBL:ENSP00000498104", "ENSEMBL:ENSP00000498104.1", "UMLS:C0766164", "MESH:C118591"], "information_content": 88.2}
{"id": "UniProtKB:P56178-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein DLX-5 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P56178-1", "PR:P56178-1", "ENSEMBL:ENSP00000498116", "ENSEMBL:ENSP00000498116.1"], "information_content": 100.0}
{"id": "NCBIGene:726", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CAPN5", "equivalent_identifiers": ["NCBIGene:726", "ENSEMBL:ENSG00000149260", "HGNC:1482", "OMIM:602537", "UMLS:C1413115", "UniProtKB:A0A140VKH4", "UniProtKB:E7EV01", "ENSEMBL:ENSP00000409996", "ENSEMBL:ENSP00000409996.2", "UniProtKB:O15484", "PR:O15484", "ENSEMBL:ENSP00000432332", "ENSEMBL:ENSP00000432332.1", "ENSEMBL:ENSP00000467244", "ENSEMBL:ENSP00000467244.2", "ENSEMBL:ENSP00000498132", "ENSEMBL:ENSP00000498132.1"], "information_content": 95.4}
{"id": "MONDO:0011644", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pars planitis", "equivalent_identifiers": ["MONDO:0011644", "DOID:12731", "OMIM:606177", "EFO:1001088", "UMLS:C0030593", "MESH:D015868", "MEDDRA:10034052", "NCIT:C34903", "SNOMEDCT:314428001", "SNOMEDCT:45688009", "medgen:14623", "icd11.foundation:127977237", "ICD10:H30.2", "ICD9:363.21"], "information_content": 100.0}
{"id": "NCBIGene:8820", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "HESX1", "equivalent_identifiers": ["NCBIGene:8820", "ENSEMBL:ENSG00000163666", "HGNC:4877", "OMIM:601802", "UMLS:C1415521", "UniProtKB:Q9UBX0", "PR:Q9UBX0", "ENSEMBL:ENSP00000295934", "ENSEMBL:ENSP00000295934.3", "ENSEMBL:ENSP00000498190", "ENSEMBL:ENSP00000498190.1", "UMLS:C1307131", "MESH:C489736"], "information_content": 95.4}
{"id": "NCBIGene:51305", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNK9", "equivalent_identifiers": ["NCBIGene:51305", "ENSEMBL:ENSG00000169427", "HGNC:6283", "OMIM:605874", "UMLS:C1416601", "UniProtKB:Q9NPC2", "PR:Q9NPC2", "ENSEMBL:ENSP00000302166", "ENSEMBL:ENSP00000302166.1", "ENSEMBL:ENSP00000429847", "ENSEMBL:ENSP00000429847.1", "ENSEMBL:ENSP00000430676", "ENSEMBL:ENSP00000430676.1", "ENSEMBL:ENSP00000496915", "ENSEMBL:ENSP00000496915.1", "ENSEMBL:ENSP00000498198", "ENSEMBL:ENSP00000498198.1", "UMLS:C1455079", "MESH:C498655"], "information_content": 100.0}
{"id": "NCBIGene:2187", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FANCB", "equivalent_identifiers": ["NCBIGene:2187", "ENSEMBL:ENSG00000181544", "HGNC:3583", "OMIM:300515", "UMLS:C1414528", "UniProtKB:A0A8Q3WL66", "ENSEMBL:ENSP00000512573", "ENSEMBL:ENSP00000512573.1", "ENSEMBL:ENSP00000512574", "ENSEMBL:ENSP00000512574.1", "UniProtKB:C9J5X9", "ENSEMBL:ENSP00000397849", "ENSEMBL:ENSP00000397849.2", "UMLS:C1872422", "MESH:C515775", "UniProtKB:Q8NB91", "PR:Q8NB91", "ENSEMBL:ENSP00000326819", "ENSEMBL:ENSP00000326819.3", "ENSEMBL:ENSP00000498215", "ENSEMBL:ENSP00000498215.1", "ENSEMBL:ENSP00000512550", "ENSEMBL:ENSP00000512550.1", "ENSEMBL:ENSP00000512577", "ENSEMBL:ENSP00000512577.1", "ENSEMBL:ENSP00000512578", "ENSEMBL:ENSP00000512578.1", "UMLS:C2828009"], "information_content": 100.0}
{"id": "NCBIGene:60529", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ALX4", "equivalent_identifiers": ["NCBIGene:60529", "ENSEMBL:ENSG00000052850", "HGNC:450", "OMIM:605420", "UMLS:C1412373", "UniProtKB:Q9H161", "PR:Q9H161", "ENSEMBL:ENSP00000498217", "ENSEMBL:ENSP00000498217.1", "UMLS:C1431988", "MESH:C416676"], "information_content": 100.0}
{"id": "UniProtKB:P14151-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "L-selectin isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P14151-2", "PR:P14151-2", "ENSEMBL:ENSP00000498227", "ENSEMBL:ENSP00000498227.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HDD0-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipase A and acyltransferase 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9HDD0-2", "PR:Q9HDD0-2", "ENSEMBL:ENSP00000498228", "ENSEMBL:ENSP00000498228.1"], "information_content": 100.0}
{"id": "MONDO:0011838", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Bothnia retinal dystrophy", "equivalent_identifiers": ["MONDO:0011838", "DOID:0050683", "OMIM:607475", "orphanet:85128", "UMLS:C1843816", "MESH:C564392", "SNOMEDCT:715647007", "medgen:334499", "icd11.foundation:2110390212"], "information_content": 100.0}
{"id": "UniProtKB:Q9UNQ0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UNQ0-1", "PR:Q9UNQ0-1", "ENSEMBL:ENSP00000237612", "ENSEMBL:ENSP00000237612.3", "ENSEMBL:ENSP00000498246", "ENSEMBL:ENSP00000498246.1"], "information_content": 100.0}
{"id": "NCBIGene:55284", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UBE2W", "equivalent_identifiers": ["NCBIGene:55284", "ENSEMBL:ENSG00000104343", "HGNC:25616", "OMIM:614277", "UMLS:C1823575", "UniProtKB:Q96B02", "PR:Q96B02", "UMLS:C1722086", "MESH:C510626", "UniProtKB:Q96FI0", "UniProtKB:X6REH9", "ENSEMBL:ENSP00000397453", "ENSEMBL:ENSP00000397453.3", "ENSEMBL:ENSP00000498255", "ENSEMBL:ENSP00000498255.1"]}
{"id": "NCBIGene:9290", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR55", "equivalent_identifiers": ["NCBIGene:9290", "ENSEMBL:ENSG00000135898", "HGNC:4511", "OMIM:604107", "UMLS:C1415245", "UniProtKB:A8K858", "UMLS:C2002138", "MESH:C524885", "UniProtKB:Q9Y2T6", "PR:Q9Y2T6", "ENSEMBL:ENSP00000375893", "ENSEMBL:ENSP00000375893.2", "ENSEMBL:ENSP00000375894", "ENSEMBL:ENSP00000375894.1", "ENSEMBL:ENSP00000410267", "ENSEMBL:ENSP00000410267.1", "ENSEMBL:ENSP00000482381", "ENSEMBL:ENSP00000482381.1", "ENSEMBL:ENSP00000498258", "ENSEMBL:ENSP00000498258.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UKU0-8", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "long-chain-fatty-acid--CoA ligase 6 isoform h8 (human)", "equivalent_identifiers": ["UniProtKB:Q9UKU0-8", "PR:Q9UKU0-8", "ENSEMBL:ENSP00000498260", "ENSEMBL:ENSP00000498260.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WVC6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "dephospho-CoA kinase domain-containing protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8WVC6-1", "PR:Q8WVC6-1", "ENSEMBL:ENSP00000308515", "ENSEMBL:ENSP00000308515.5", "ENSEMBL:ENSP00000341504", "ENSEMBL:ENSP00000341504.4", "ENSEMBL:ENSP00000413483", "ENSEMBL:ENSP00000413483.1", "ENSEMBL:ENSP00000467913", "ENSEMBL:ENSP00000467913.1", "ENSEMBL:ENSP00000498268", "ENSEMBL:ENSP00000498268.1", "ENSEMBL:ENSP00000509683", "ENSEMBL:ENSP00000509683.1", "ENSEMBL:ENSP00000509729", "ENSEMBL:ENSP00000509729.1", "ENSEMBL:ENSP00000509802", "ENSEMBL:ENSP00000509802.1", "ENSEMBL:ENSP00000509864", "ENSEMBL:ENSP00000509864.1", "ENSEMBL:ENSP00000510018", "ENSEMBL:ENSP00000510018.1", "ENSEMBL:ENSP00000510227", "ENSEMBL:ENSP00000510227.1", "ENSEMBL:ENSP00000510563", "ENSEMBL:ENSP00000510563.1"], "information_content": 100.0}
{"id": "NCBIGene:7809", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BSND", "equivalent_identifiers": ["NCBIGene:7809", "ENSEMBL:ENSG00000162399", "HGNC:16512", "OMIM:606412", "UMLS:C1424344", "UniProtKB:Q5VU50", "UniProtKB:Q8WZ55", "PR:Q8WZ55", "ENSEMBL:ENSP00000498282", "ENSEMBL:ENSP00000498282.1", "UMLS:C1448189", "MESH:C440005"], "information_content": 100.0}
{"id": "NCBIGene:222662", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LHFPL5", "equivalent_identifiers": ["NCBIGene:222662", "ENSEMBL:ENSG00000197753", "HGNC:21253", "OMIM:609427", "UMLS:C1427457", "UniProtKB:Q8TAF8", "PR:Q8TAF8", "ENSEMBL:ENSP00000353346", "ENSEMBL:ENSP00000353346.1", "ENSEMBL:ENSP00000498322", "ENSEMBL:ENSP00000498322.1", "ENSEMBL:ENSP00000498699", "ENSEMBL:ENSP00000498699.1", "UMLS:C1872790", "MESH:C515721"], "information_content": 95.4}
{"id": "NCBIGene:4522", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MTHFD1", "equivalent_identifiers": ["NCBIGene:4522", "ENSEMBL:ENSG00000100714", "HGNC:7432", "OMIM:172460", "UMLS:C1417420", "UniProtKB:F5H2F4", "ENSEMBL:ENSP00000438588", "ENSEMBL:ENSP00000438588.2", "UniProtKB:P11586", "PR:P11586", "ENSEMBL:ENSP00000498336", "ENSEMBL:ENSP00000498336.1", "ENSEMBL:ENSP00000498511", "ENSEMBL:ENSP00000498511.1", "UMLS:C2715003", "UMLS:C3539843", "MESH:C539735"], "information_content": 85.5}
{"id": "UniProtKB:P22830-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ferrochelatase, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P22830-2", "PR:P22830-2", "ENSEMBL:ENSP00000498358", "ENSEMBL:ENSP00000498358.1"], "information_content": 100.0}
{"id": "UniProtKB:O60828-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "polyglutamine-binding protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O60828-1", "PR:O60828-1", "ENSEMBL:ENSP00000218224", "ENSEMBL:ENSP00000218224.4", "ENSEMBL:ENSP00000365747", "ENSEMBL:ENSP00000365747.1", "ENSEMBL:ENSP00000379985", "ENSEMBL:ENSP00000379985.1", "ENSEMBL:ENSP00000391759", "ENSEMBL:ENSP00000391759.2", "ENSEMBL:ENSP00000414861", "ENSEMBL:ENSP00000414861.2", "ENSEMBL:ENSP00000498362", "ENSEMBL:ENSP00000498362.1", "ENSEMBL:ENSP00000518005", "ENSEMBL:ENSP00000518005.1", "ENSEMBL:ENSP00000518007", "ENSEMBL:ENSP00000518007.1", "ENSEMBL:ENSP00000518009", "ENSEMBL:ENSP00000518009.1", "ENSEMBL:ENSP00000518012", "ENSEMBL:ENSP00000518012.1", "ENSEMBL:ENSP00000518014", "ENSEMBL:ENSP00000518014.1", "ENSEMBL:ENSP00000518015", "ENSEMBL:ENSP00000518015.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96QP1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-protein kinase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96QP1-1", "PR:Q96QP1-1", "ENSEMBL:ENSP00000177648", "ENSEMBL:ENSP00000177648.9", "ENSEMBL:ENSP00000398048", "ENSEMBL:ENSP00000398048.1", "ENSEMBL:ENSP00000498374", "ENSEMBL:ENSP00000498374.1"], "information_content": 100.0}
{"id": "UniProtKB:O75140-10", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "GATOR1 complex protein DEPDC5 isoform h10 (human)", "equivalent_identifiers": ["UniProtKB:O75140-10", "PR:O75140-10", "ENSEMBL:ENSP00000371546", "ENSEMBL:ENSP00000371546.4", "ENSEMBL:ENSP00000498382", "ENSEMBL:ENSP00000498382.1"], "information_content": 100.0}
{"id": "UniProtKB:B3KWA1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "B3KWA1_HUMAN Iduronate 2-sulfatase (Hunter syndrome), isoform CRA_e (trembl)", "equivalent_identifiers": ["UniProtKB:B3KWA1", "ENSEMBL:ENSP00000477056", "ENSEMBL:ENSP00000477056.1", "ENSEMBL:ENSP00000498395", "ENSEMBL:ENSP00000498395.1"]}
{"id": "UniProtKB:F8WA42", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F8WA42_HUMAN Sulfatase modifying factor 2 (trembl)", "equivalent_identifiers": ["UniProtKB:F8WA42", "ENSEMBL:ENSP00000498402", "ENSEMBL:ENSP00000498402.1"]}
{"id": "NCBIGene:340665", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP26C1", "equivalent_identifiers": ["NCBIGene:340665", "ENSEMBL:ENSG00000187553", "HGNC:20577", "OMIM:608428", "UMLS:C1427013", "UniProtKB:Q6V0L0", "PR:Q6V0L0", "ENSEMBL:ENSP00000498424", "ENSEMBL:ENSP00000498424.1", "UMLS:C1435240", "MESH:C482075"], "information_content": 100.0}
{"id": "MONDO:0008479", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondylometaphyseal dysplasia, 'corner fracture' type", "equivalent_identifiers": ["MONDO:0008479", "DOID:0112297", "OMIM:184255", "orphanet:93315", "UMLS:C0432221", "MESH:C535793", "SNOMEDCT:254078005", "medgen:98146", "icd11.foundation:1295452752"], "information_content": 100.0}
{"id": "UniProtKB:P02671-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "fibrinogen alpha chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P02671-1", "PR:P02671-1", "ENSEMBL:ENSP00000498441", "ENSEMBL:ENSP00000498441.1"], "information_content": 100.0}
{"id": "UniProtKB:P25445-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tumor necrosis factor receptor superfamily member 6 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P25445-1", "PR:P25445-1", "ENSEMBL:ENSP00000498466", "ENSEMBL:ENSP00000498466.1"], "information_content": 100.0}
{"id": "NCBIGene:10622", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "POLR3G", "equivalent_identifiers": ["NCBIGene:10622", "ENSEMBL:ENSG00000113356", "HGNC:30075", "OMIM:617456", "UMLS:C1538699", "UniProtKB:A0A7I2R591", "ENSEMBL:ENSP00000382058", "ENSEMBL:ENSP00000382058.2", "UniProtKB:O15318", "PR:O15318", "ENSEMBL:ENSP00000421637", "ENSEMBL:ENSP00000421637.1", "ENSEMBL:ENSP00000498469", "ENSEMBL:ENSP00000498469.1", "UMLS:C3252562", "MESH:C569418"], "information_content": 100.0}
{"id": "NCBIGene:81631", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAP1LC3B", "equivalent_identifiers": ["NCBIGene:81631", "ENSEMBL:ENSG00000140941", "HGNC:13352", "OMIM:609604", "UMLS:C1421946", "UniProtKB:Q658J6", "UniProtKB:Q9GZQ8", "PR:Q9GZQ8", "ENSEMBL:ENSP00000268607", "ENSEMBL:ENSP00000268607.5", "ENSEMBL:ENSP00000498476", "ENSEMBL:ENSP00000498476.1", "UMLS:C1311384", "MESH:C502070"], "information_content": 95.4}
{"id": "UniProtKB:Q2NKJ3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CST complex subunit CTC1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q2NKJ3-1", "PR:Q2NKJ3-1", "ENSEMBL:ENSP00000498499", "ENSEMBL:ENSP00000498499.1"], "information_content": 100.0}
{"id": "NCBIGene:8748", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADAM20", "equivalent_identifiers": ["NCBIGene:8748", "ENSEMBL:ENSG00000134007", "HGNC:199", "OMIM:603712", "UMLS:C1412190", "UniProtKB:A0A494C0E3", "ENSEMBL:ENSP00000498512", "ENSEMBL:ENSP00000498512.1", "UMLS:C1308430", "MESH:C110998", "UniProtKB:O43506", "PR:O43506", "ENSEMBL:ENSP00000256389", "ENSEMBL:ENSP00000256389.3"]}
{"id": "NCBIGene:219527", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC55", "equivalent_identifiers": ["NCBIGene:219527", "ENSEMBL:ENSG00000183908", "HGNC:32324", "OMIM:615213", "UMLS:C1825900", "UniProtKB:A0A494C0H1", "ENSEMBL:ENSP00000498533", "ENSEMBL:ENSP00000498533.1", "UMLS:C3493522", "MESH:C573835", "UniProtKB:Q6ZSA7", "PR:Q6ZSA7", "ENSEMBL:ENSP00000419542", "ENSEMBL:ENSP00000419542.2"]}
{"id": "UniProtKB:P06753-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "tropomyosin alpha-3 chain isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P06753-1", "PR:P06753-1", "ENSEMBL:ENSP00000498577", "ENSEMBL:ENSP00000498577.1"], "information_content": 100.0}
{"id": "NCBIGene:4851", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NOTCH1", "equivalent_identifiers": ["NCBIGene:4851", "ENSEMBL:ENSG00000148400", "HGNC:7881", "OMIM:190198", "UMLS:C1334889", "UniProtKB:P46531", "PR:P46531", "ENSEMBL:ENSP00000498587", "ENSEMBL:ENSP00000498587.1", "UMLS:C1335068", "MESH:C497761"], "information_content": 79.9}
{"id": "NCBIGene:340061", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "STING1", "equivalent_identifiers": ["NCBIGene:340061", "ENSEMBL:ENSG00000184584", "HGNC:27962", "OMIM:612374", "UMLS:C1823437", "UniProtKB:A0A494C0W5", "ENSEMBL:ENSP00000498768", "ENSEMBL:ENSP00000498768.1", "ENSEMBL:ENSP00000500679", "ENSEMBL:ENSP00000500679.1", "UniProtKB:J3QTB1", "ENSEMBL:ENSP00000498513", "ENSEMBL:ENSP00000498513.1", "ENSEMBL:ENSP00000499985", "ENSEMBL:ENSP00000499985.1", "ENSEMBL:ENSP00000500885", "ENSEMBL:ENSP00000500885.1", "UniProtKB:Q86WV6", "PR:Q86WV6", "ENSEMBL:ENSP00000331288", "ENSEMBL:ENSP00000331288.4", "ENSEMBL:ENSP00000498596", "ENSEMBL:ENSP00000498596.1", "ENSEMBL:ENSP00000499166", "ENSEMBL:ENSP00000499166.1", "ENSEMBL:ENSP00000500685", "ENSEMBL:ENSP00000500685.1", "ENSEMBL:ENSP00000500793", "ENSEMBL:ENSP00000500793.1", "ENSEMBL:ENSP00000500823", "ENSEMBL:ENSP00000500823.1", "UMLS:C2605778", "MESH:C532857", "UniProtKB:V5V0K2"], "information_content": 89.4}
{"id": "UniProtKB:A0A7P0SXD0", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A7P0SXD0_HUMAN WD repeat-containing protein 26 (Fragment) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A7P0SXD0", "ENSEMBL:ENSP00000498603", "ENSEMBL:ENSP00000498603.2"]}
{"id": "UniProtKB:Q99808-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "equilibrative nucleoside transporter 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q99808-1", "PR:Q99808-1", "ENSEMBL:ENSP00000360773", "ENSEMBL:ENSP00000360773.1", "ENSEMBL:ENSP00000360778", "ENSEMBL:ENSP00000360778.1", "ENSEMBL:ENSP00000360789", "ENSEMBL:ENSP00000360789.1", "ENSEMBL:ENSP00000360820", "ENSEMBL:ENSP00000360820.3", "ENSEMBL:ENSP00000377427", "ENSEMBL:ENSP00000377427.1", "ENSEMBL:ENSP00000498610", "ENSEMBL:ENSP00000498610.1", "ENSEMBL:ENSP00000498747", "ENSEMBL:ENSP00000498747.1", "ENSEMBL:ENSP00000499107", "ENSEMBL:ENSP00000499107.1"], "information_content": 100.0}
{"id": "UniProtKB:A6QL64-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ankyrin repeat domain-containing protein 36A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:A6QL64-1", "PR:A6QL64-1", "ENSEMBL:ENSP00000391950", "ENSEMBL:ENSP00000391950.4", "ENSEMBL:ENSP00000419530", "ENSEMBL:ENSP00000419530.3", "ENSEMBL:ENSP00000498611", "ENSEMBL:ENSP00000498611.1", "ENSEMBL:ENSP00000517080", "ENSEMBL:ENSP00000517080.1", "ENSEMBL:ENSP00000517081", "ENSEMBL:ENSP00000517081.1", "ENSEMBL:ENSP00000517082", "ENSEMBL:ENSP00000517082.1"], "information_content": 100.0}
{"id": "UniProtKB:Q01538-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "myelin transcription factor 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q01538-1", "PR:Q01538-1", "ENSEMBL:ENSP00000327465", "ENSEMBL:ENSP00000327465.1", "ENSEMBL:ENSP00000477771", "ENSEMBL:ENSP00000477771.2", "ENSEMBL:ENSP00000498616", "ENSEMBL:ENSP00000498616.1"], "information_content": 100.0}
{"id": "NCBIGene:4284", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MIP", "equivalent_identifiers": ["NCBIGene:4284", "ENSEMBL:ENSG00000135517", "HGNC:7103", "OMIM:154050", "UMLS:C1417170", "UniProtKB:P30301", "PR:P30301", "ENSEMBL:ENSP00000498622", "ENSEMBL:ENSP00000498622.1", "UMLS:C1721136"], "information_content": 92.8}
{"id": "MONDO:0004037", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "retinal edema", "equivalent_identifiers": ["MONDO:0004037", "DOID:6929", "UMLS:C0242420", "MEDDRA:10014255", "MEDDRA:10038860", "MEDDRA:10038886", "MEDDRA:10055937", "SNOMEDCT:6141006", "medgen:69183", "HP:0031527"], "information_content": 90.9}
{"id": "UniProtKB:Q86UP3-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "zinc finger homeobox protein 4 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q86UP3-5", "PR:Q86UP3-5", "ENSEMBL:ENSP00000498627", "ENSEMBL:ENSP00000498627.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NI17-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-31 receptor subunit alpha isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8NI17-2", "PR:Q8NI17-2", "ENSEMBL:ENSP00000498630", "ENSEMBL:ENSP00000498630.1"], "information_content": 100.0}
{"id": "UniProtKB:P35659-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein DEK isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P35659-1", "PR:P35659-1", "ENSEMBL:ENSP00000498335", "ENSEMBL:ENSP00000498335.1", "ENSEMBL:ENSP00000498653", "ENSEMBL:ENSP00000498653.1"], "information_content": 100.0}
{"id": "NCBIGene:84939", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PWWP3A", "equivalent_identifiers": ["NCBIGene:84939", "ENSEMBL:ENSG00000160953", "HGNC:29641", "UMLS:C1428883", "UniProtKB:J3KNX4", "ENSEMBL:ENSP00000498656", "ENSEMBL:ENSP00000498656.1", "UMLS:C2933271", "MESH:C548724", "UniProtKB:K7ES53", "ENSEMBL:ENSP00000465838", "ENSEMBL:ENSP00000465838.2", "ENSEMBL:ENSP00000468322", "ENSEMBL:ENSP00000468322.2", "ENSEMBL:ENSP00000468557", "ENSEMBL:ENSP00000468557.2", "UniProtKB:Q2TAK8", "PR:Q2TAK8"]}
{"id": "MONDO:0003987", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "lung lymphoma", "equivalent_identifiers": ["MONDO:0003987", "DOID:6760", "UMLS:C0519063", "UMLS:C1704383", "MEDDRA:10037418", "NCIT:C4794", "medgen:312385", "HP:0011953"], "information_content": 84.2}
{"id": "NCBIGene:8706", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "B3GALNT1", "equivalent_identifiers": ["NCBIGene:8706", "ENSEMBL:ENSG00000169255", "HGNC:918", "OMIM:603094", "UMLS:C1825854", "UniProtKB:B3KTQ4", "UMLS:C3710658", "MESH:C585979", "UniProtKB:O75752", "PR:O75752", "ENSEMBL:ENSP00000323479", "ENSEMBL:ENSP00000323479.4", "ENSEMBL:ENSP00000376530", "ENSEMBL:ENSP00000376530.2", "ENSEMBL:ENSP00000376532", "ENSEMBL:ENSP00000376532.2", "ENSEMBL:ENSP00000418226", "ENSEMBL:ENSP00000418226.1", "ENSEMBL:ENSP00000420163", "ENSEMBL:ENSP00000420163.1", "ENSEMBL:ENSP00000498346", "ENSEMBL:ENSP00000498346.1", "ENSEMBL:ENSP00000498369", "ENSEMBL:ENSP00000498369.1", "ENSEMBL:ENSP00000498427", "ENSEMBL:ENSP00000498427.1", "ENSEMBL:ENSP00000498478", "ENSEMBL:ENSP00000498478.1", "ENSEMBL:ENSP00000498481", "ENSEMBL:ENSP00000498481.1", "ENSEMBL:ENSP00000498487", "ENSEMBL:ENSP00000498487.1", "ENSEMBL:ENSP00000498542", "ENSEMBL:ENSP00000498542.1", "ENSEMBL:ENSP00000498553", "ENSEMBL:ENSP00000498553.1", "ENSEMBL:ENSP00000498633", "ENSEMBL:ENSP00000498633.1", "ENSEMBL:ENSP00000498655", "ENSEMBL:ENSP00000498655.1", "ENSEMBL:ENSP00000498660", "ENSEMBL:ENSP00000498660.1", "ENSEMBL:ENSP00000498689", "ENSEMBL:ENSP00000498689.1", "ENSEMBL:ENSP00000498696", "ENSEMBL:ENSP00000498696.1", "ENSEMBL:ENSP00000498743", "ENSEMBL:ENSP00000498743.1", "ENSEMBL:ENSP00000498810", "ENSEMBL:ENSP00000498810.1", "ENSEMBL:ENSP00000498854", "ENSEMBL:ENSP00000498854.1", "ENSEMBL:ENSP00000498901", "ENSEMBL:ENSP00000498901.1", "ENSEMBL:ENSP00000498902", "ENSEMBL:ENSP00000498902.1", "ENSEMBL:ENSP00000498907", "ENSEMBL:ENSP00000498907.1", "ENSEMBL:ENSP00000498978", "ENSEMBL:ENSP00000498978.1", "ENSEMBL:ENSP00000498982", "ENSEMBL:ENSP00000498982.1", "ENSEMBL:ENSP00000499003", "ENSEMBL:ENSP00000499003.1", "ENSEMBL:ENSP00000499010", "ENSEMBL:ENSP00000499010.1", "ENSEMBL:ENSP00000499072", "ENSEMBL:ENSP00000499072.1", "ENSEMBL:ENSP00000499180", "ENSEMBL:ENSP00000499180.1", "ENSEMBL:ENSP00000499186", "ENSEMBL:ENSP00000499186.1", "UniProtKB:Q49AT3", "UniProtKB:Q7L9G8"], "information_content": 92.8}
{"id": "NCBIGene:94030", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LRRC4B", "equivalent_identifiers": ["NCBIGene:94030", "ENSEMBL:ENSG00000131409", "HGNC:25042", "UMLS:C1537594", "UniProtKB:Q9NT99", "PR:Q9NT99", "ENSEMBL:ENSP00000373853", "ENSEMBL:ENSP00000373853.3", "ENSEMBL:ENSP00000471502", "ENSEMBL:ENSP00000471502.1", "ENSEMBL:ENSP00000498662", "ENSEMBL:ENSP00000498662.1", "UMLS:C3254581", "MESH:C568998"], "information_content": 92.8}
{"id": "NCBIGene:57591", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MRTFA", "equivalent_identifiers": ["NCBIGene:57591", "ENSEMBL:ENSG00000196588", "HGNC:14334", "OMIM:606078", "UMLS:C1422572", "UniProtKB:A0A494BZX7", "ENSEMBL:ENSP00000498277", "ENSEMBL:ENSP00000498277.2", "UniProtKB:A0A499FIJ6", "ENSEMBL:ENSP00000347847", "ENSEMBL:ENSP00000347847.5", "UniProtKB:A4FUJ8", "UniProtKB:B0QY83", "ENSEMBL:ENSP00000385584", "ENSEMBL:ENSP00000385584.3", "UniProtKB:Q969V6", "PR:Q969V6", "ENSEMBL:ENSP00000385835", "ENSEMBL:ENSP00000385835.1", "UMLS:C3273341", "MESH:C431575", "UniProtKB:W0Z7M9", "ENSEMBL:ENSP00000498671", "ENSEMBL:ENSP00000498671.1"]}
{"id": "UniProtKB:Q13642-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "four and a half LIM domains protein 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q13642-2", "PR:Q13642-2", "ENSEMBL:ENSP00000377710", "ENSEMBL:ENSP00000377710.2", "ENSEMBL:ENSP00000498684", "ENSEMBL:ENSP00000498684.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IZJ3-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IZJ3-2", "PR:Q8IZJ3-2", "ENSEMBL:ENSP00000498697", "ENSEMBL:ENSP00000498697.2"], "information_content": 100.0}
{"id": "UniProtKB:Q96G01-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein bicaudal D homolog 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96G01-1", "PR:Q96G01-1", "ENSEMBL:ENSP00000498700", "ENSEMBL:ENSP00000498700.1"], "information_content": 100.0}
{"id": "NCBIGene:8111", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR68", "equivalent_identifiers": ["NCBIGene:8111", "ENSEMBL:ENSG00000119714", "HGNC:4519", "OMIM:601404", "UMLS:C1333696", "UniProtKB:A1A5B2", "UniProtKB:Q15743", "PR:Q15743", "ENSEMBL:ENSP00000434045", "ENSEMBL:ENSP00000434045.2", "ENSEMBL:ENSP00000440797", "ENSEMBL:ENSP00000440797.1", "ENSEMBL:ENSP00000498702", "ENSEMBL:ENSP00000498702.1", "UMLS:C1259265", "MESH:C486281"], "information_content": 95.4}
{"id": "NCBIGene:50700", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RDH8", "equivalent_identifiers": ["NCBIGene:50700", "ENSEMBL:ENSG00000080511", "HGNC:14423", "OMIM:608575", "UMLS:C1422637", "UniProtKB:K7ELF7", "ENSEMBL:ENSP00000498711", "ENSEMBL:ENSP00000498711.1", "UniProtKB:Q9NYR8", "PR:Q9NYR8", "ENSEMBL:ENSP00000466058", "ENSEMBL:ENSP00000466058.2"]}
{"id": "UniProtKB:O60565-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "gremlin-1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O60565-1", "PR:O60565-1", "ENSEMBL:ENSP00000300177", "ENSEMBL:ENSP00000300177.4", "ENSEMBL:ENSP00000498605", "ENSEMBL:ENSP00000498605.1", "ENSEMBL:ENSP00000498748", "ENSEMBL:ENSP00000498748.1", "ENSEMBL:ENSP00000498763", "ENSEMBL:ENSP00000498763.1", "ENSEMBL:ENSP00000498897", "ENSEMBL:ENSP00000498897.1"], "information_content": 100.0}
{"id": "UniProtKB:P07510-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "acetylcholine receptor subunit gamma isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P07510-1", "PR:P07510-1", "ENSEMBL:ENSP00000498757", "ENSEMBL:ENSP00000498757.1"], "information_content": 100.0}
{"id": "NCBIGene:1834", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DSPP", "equivalent_identifiers": ["NCBIGene:1834", "ENSEMBL:ENSG00000152591", "HGNC:3054", "OMIM:125485", "UMLS:C1414174", "UniProtKB:Q9NZW4", "PR:Q9NZW4", "ENSEMBL:ENSP00000498766", "ENSEMBL:ENSP00000498766.1", "UMLS:C0674127"], "information_content": 100.0}
{"id": "NCBIGene:54065", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SMIM11", "equivalent_identifiers": ["NCBIGene:54065", "ENSEMBL:ENSG00000205670", "HGNC:1293", "UMLS:C4085383", "UniProtKB:P58511", "PR:P58511", "ENSEMBL:ENSP00000382231", "ENSEMBL:ENSP00000382231.4", "ENSEMBL:ENSP00000382234", "ENSEMBL:ENSP00000382234.2", "ENSEMBL:ENSP00000498771", "ENSEMBL:ENSP00000498771.1", "ENSEMBL:ENSP00000499160", "ENSEMBL:ENSP00000499160.1"], "information_content": 92.8}
{"id": "NCBIGene:101060226", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NBPF19", "equivalent_identifiers": ["NCBIGene:101060226", "ENSEMBL:ENSG00000271383", "HGNC:31999", "OMIM:614006", "UMLS:C1826377", "UniProtKB:A0A087WUL8", "PR:A0A087WUL8", "ENSEMBL:ENSP00000498781", "ENSEMBL:ENSP00000498781.1"], "information_content": 100.0}
{"id": "UniProtKB:A0A494C100", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A494C100_HUMAN Cardiolipin synthase (CMP-forming) (trembl)", "equivalent_identifiers": ["UniProtKB:A0A494C100", "ENSEMBL:ENSP00000498784", "ENSEMBL:ENSP00000498784.1"]}
{"id": "UniProtKB:P08397-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "porphobilinogen deaminase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P08397-1", "PR:P08397-1", "ENSEMBL:ENSP00000498786", "ENSEMBL:ENSP00000498786.1"], "information_content": 100.0}
{"id": "MONDO:0000342", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "O'nyong'nyong fever", "equivalent_identifiers": ["MONDO:0000342", "DOID:0050516", "UMLS:C0276286", "MEDDRA:10080464", "SNOMEDCT:85579005", "medgen:547234", "ICD10:A92.1"], "information_content": 100.0}
{"id": "NCBIGene:65095", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KRI1", "equivalent_identifiers": ["NCBIGene:65095", "ENSEMBL:ENSG00000129347", "HGNC:25769", "UMLS:C2239568", "UniProtKB:A0A494C108", "ENSEMBL:ENSP00000498803", "ENSEMBL:ENSP00000498803.1", "UniProtKB:Q8N9T8", "PR:Q8N9T8", "ENSEMBL:ENSP00000320917", "ENSEMBL:ENSP00000320917.9"]}
{"id": "NCBIGene:6693", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SPN", "equivalent_identifiers": ["NCBIGene:6693", "ENSEMBL:ENSG00000197471", "HGNC:11249", "OMIM:182160", "UMLS:C1420364", "UniProtKB:P16150", "PR:P16150", "ENSEMBL:ENSP00000353238", "ENSEMBL:ENSP00000353238.3", "ENSEMBL:ENSP00000378787", "ENSEMBL:ENSP00000378787.2", "ENSEMBL:ENSP00000455266", "ENSEMBL:ENSP00000455266.1", "ENSEMBL:ENSP00000498852", "ENSEMBL:ENSP00000498852.1", "UMLS:C1434437", "MESH:C465014"], "information_content": 65.7}
{"id": "UniProtKB:Q9GZT8-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NIF3-like protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9GZT8-1", "PR:Q9GZT8-1", "ENSEMBL:ENSP00000386394", "ENSEMBL:ENSP00000386394.1", "ENSEMBL:ENSP00000387315", "ENSEMBL:ENSP00000387315.1", "ENSEMBL:ENSP00000498853", "ENSEMBL:ENSP00000498853.1"], "information_content": 100.0}
{"id": "UniProtKB:Q15120-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial isoform 2 (human)", "equivalent_identifiers": ["UniProtKB:Q15120-2", "PR:Q15120-2", "ENSEMBL:ENSP00000498864", "ENSEMBL:ENSP00000498864.1"], "information_content": 100.0}
{"id": "NCBIGene:23395", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "LARS2", "equivalent_identifiers": ["NCBIGene:23395", "ENSEMBL:ENSG00000011376", "HGNC:17095", "OMIM:604544", "UMLS:C1424741", "UniProtKB:Q15031", "PR:Q15031", "ENSEMBL:ENSP00000495093", "ENSEMBL:ENSP00000495093.1", "ENSEMBL:ENSP00000495707", "ENSEMBL:ENSP00000495707.1", "ENSEMBL:ENSP00000498867", "ENSEMBL:ENSP00000498867.1", "UMLS:C2933645", "MESH:C549096"], "information_content": 95.4}
{"id": "NCBIGene:58533", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SNX6", "equivalent_identifiers": ["NCBIGene:58533", "ENSEMBL:ENSG00000129515", "HGNC:14970", "OMIM:606098", "UMLS:C1423097", "UniProtKB:A0A0A0MRI2", "ENSEMBL:ENSP00000498872", "ENSEMBL:ENSP00000498872.1", "UMLS:C1432192", "MESH:C431150", "UniProtKB:Q9UNH7", "PR:Q9UNH7"]}
{"id": "NCBIGene:643136", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ZC3H11B", "equivalent_identifiers": ["NCBIGene:643136", "ENSEMBL:ENSG00000215817", "HGNC:25659", "UMLS:C1823923", "UniProtKB:A0A1B0GTU1", "PR:A0A1B0GTU1", "ENSEMBL:ENSP00000498875", "ENSEMBL:ENSP00000498875.1"], "information_content": 100.0}
{"id": "UniProtKB:P13987-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "CD59 glycoprotein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P13987-1", "PR:P13987-1", "ENSEMBL:ENSP00000340210", "ENSEMBL:ENSP00000340210.3", "ENSEMBL:ENSP00000379191", "ENSEMBL:ENSP00000379191.3", "ENSEMBL:ENSP00000403511", "ENSEMBL:ENSP00000403511.2", "ENSEMBL:ENSP00000404822", "ENSEMBL:ENSP00000404822.2", "ENSEMBL:ENSP00000410182", "ENSEMBL:ENSP00000410182.2", "ENSEMBL:ENSP00000432942", "ENSEMBL:ENSP00000432942.1", "ENSEMBL:ENSP00000494884", "ENSEMBL:ENSP00000494884.1", "ENSEMBL:ENSP00000498448", "ENSEMBL:ENSP00000498448.1", "ENSEMBL:ENSP00000498879", "ENSEMBL:ENSP00000498879.1"], "information_content": 100.0}
{"id": "UniProtKB:P28715-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "DNA excision repair protein ERCC-5 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P28715-1", "PR:P28715-1", "ENSEMBL:ENSP00000498881", "ENSEMBL:ENSP00000498881.2"], "information_content": 100.0}
{"id": "NCBIGene:1415", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CRYBB2", "equivalent_identifiers": ["NCBIGene:1415", "ENSEMBL:ENSG00000244752", "HGNC:2398", "OMIM:123620", "UMLS:C1413730", "UniProtKB:P43320", "PR:P43320", "ENSEMBL:ENSP00000381273", "ENSEMBL:ENSP00000381273.2", "ENSEMBL:ENSP00000498905", "ENSEMBL:ENSP00000498905.1", "UMLS:C1612210", "UniProtKB:R4UMM2"], "information_content": 95.4}
{"id": "NCBIGene:1576", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CYP3A4", "equivalent_identifiers": ["NCBIGene:1576", "ENSEMBL:ENSG00000160868", "HGNC:2637", "OMIM:124010", "UMLS:C1176140", "UniProtKB:P08684", "PR:P08684", "ENSEMBL:ENSP00000498939", "ENSEMBL:ENSP00000498939.1", "UMLS:C1142644", "MESH:C510163", "UniProtKB:Q6GRK0"], "information_content": 95.4}
{"id": "NCBIGene:83550", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR101", "equivalent_identifiers": ["NCBIGene:83550", "ENSEMBL:ENSG00000165370", "HGNC:14963", "OMIM:300393", "UMLS:C1423091", "UniProtKB:Q96P66", "PR:Q96P66", "ENSEMBL:ENSP00000498972", "ENSEMBL:ENSP00000498972.1", "UMLS:C3883897", "MESH:C000594175"], "information_content": 100.0}
{"id": "NCBIGene:2842", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPR19", "equivalent_identifiers": ["NCBIGene:2842", "ENSEMBL:ENSG00000183150", "HGNC:4473", "OMIM:602927", "UMLS:C1415212", "UniProtKB:Q15760", "PR:Q15760", "ENSEMBL:ENSP00000333744", "ENSEMBL:ENSP00000333744.2", "ENSEMBL:ENSP00000441832", "ENSEMBL:ENSP00000441832.1", "ENSEMBL:ENSP00000498976", "ENSEMBL:ENSP00000498976.1", "UMLS:C1143564", "MESH:C509756", "UniProtKB:Q6IBH2"], "information_content": 95.4}
{"id": "UniProtKB:P11498-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "pyruvate carboxylase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P11498-1", "PR:P11498-1", "ENSEMBL:ENSP00000377527", "ENSEMBL:ENSP00000377527.2", "ENSEMBL:ENSP00000377530", "ENSEMBL:ENSP00000377530.2", "ENSEMBL:ENSP00000377532", "ENSEMBL:ENSP00000377532.1", "ENSEMBL:ENSP00000435905", "ENSEMBL:ENSP00000435905.2", "ENSEMBL:ENSP00000498302", "ENSEMBL:ENSP00000498302.1", "ENSEMBL:ENSP00000498406", "ENSEMBL:ENSP00000498406.1", "ENSEMBL:ENSP00000498994", "ENSEMBL:ENSP00000498994.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8N3Y1-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "F-box/WD repeat-containing protein 8 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N3Y1-1", "PR:Q8N3Y1-1", "ENSEMBL:ENSP00000498999", "ENSEMBL:ENSP00000498999.1"], "information_content": 100.0}
{"id": "UniProtKB:A0FGR8-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "extended synaptotagmin-2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:A0FGR8-2", "PR:A0FGR8-2", "ENSEMBL:ENSP00000499020", "ENSEMBL:ENSP00000499020.1"], "information_content": 100.0}
{"id": "NCBIGene:6232", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "RPS27", "equivalent_identifiers": ["NCBIGene:6232", "ENSEMBL:ENSG00000177954", "HGNC:10416", "OMIM:603702", "UMLS:C1335642", "UniProtKB:P42677", "PR:P42677", "ENSEMBL:ENSP00000499044", "ENSEMBL:ENSP00000499044.1", "UMLS:C0527863", "MESH:C083686"], "information_content": 84.2}
{"id": "UniProtKB:Q8IW50-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "protein FAM219A isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8IW50-1", "PR:Q8IW50-1", "ENSEMBL:ENSP00000392452", "ENSEMBL:ENSP00000392452.1", "ENSEMBL:ENSP00000499069", "ENSEMBL:ENSP00000499069.1"], "information_content": 100.0}
{"id": "UniProtKB:P26440-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "isovaleryl-CoA dehydrogenase, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P26440-1", "PR:P26440-1", "ENSEMBL:ENSP00000499074", "ENSEMBL:ENSP00000499074.1"], "information_content": 95.4}
{"id": "NCBIGene:5550", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PREP", "equivalent_identifiers": ["NCBIGene:5550", "ENSEMBL:ENSG00000085377", "HGNC:9358", "OMIM:600400", "UMLS:C1418885", "UniProtKB:B2RAH7", "UMLS:C1743738", "MESH:C514899", "UniProtKB:P48147", "PR:P48147", "ENSEMBL:ENSP00000499089", "ENSEMBL:ENSP00000499089.1"], "information_content": 92.8}
{"id": "NCBIGene:55890", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GPRC5C", "equivalent_identifiers": ["NCBIGene:55890", "ENSEMBL:ENSG00000170412", "HGNC:13309", "OMIM:605949", "UMLS:C1333697", "UniProtKB:A0A0C4DFY5", "ENSEMBL:ENSP00000499092", "ENSEMBL:ENSP00000499092.1", "ENSEMBL:ENSP00000517542", "ENSEMBL:ENSP00000517542.1", "UniProtKB:A8MXZ4", "ENSEMBL:ENSP00000376404", "ENSEMBL:ENSP00000376404.3", "ENSEMBL:ENSP00000517545", "ENSEMBL:ENSP00000517545.1", "UniProtKB:Q9BSP0", "ENSEMBL:ENSP00000462147", "ENSEMBL:ENSP00000462147.2", "ENSEMBL:ENSP00000517543", "ENSEMBL:ENSP00000517543.1", "UniProtKB:Q9NQ84", "PR:Q9NQ84", "UMLS:C0963060", "MESH:C417919"]}
{"id": "UniProtKB:P55055-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "oxysterols receptor LXR-beta isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P55055-1", "PR:P55055-1", "ENSEMBL:ENSP00000253727", "ENSEMBL:ENSP00000253727.4", "ENSEMBL:ENSP00000471194", "ENSEMBL:ENSP00000471194.1", "ENSEMBL:ENSP00000499121", "ENSEMBL:ENSP00000499121.1"], "information_content": 100.0}
{"id": "NCBIGene:643680", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MS4A4E", "equivalent_identifiers": ["NCBIGene:643680", "ENSEMBL:ENSG00000214787", "HGNC:14284", "OMIM:608401", "UMLS:C1422542", "UniProtKB:A0A494C1L8", "ENSEMBL:ENSP00000499123", "ENSEMBL:ENSP00000499123.1", "UniProtKB:B4DT89"]}
{"id": "NCBIGene:9601", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PDIA4", "equivalent_identifiers": ["NCBIGene:9601", "ENSEMBL:ENSG00000155660", "HGNC:30167", "OMIM:620018", "UMLS:C1538609", "UniProtKB:A0A090N8Y2", "UMLS:C2351335", "MESH:C526505", "UniProtKB:A0A499FI48", "ENSEMBL:ENSP00000286091", "ENSEMBL:ENSP00000286091.5", "UniProtKB:P13667", "PR:P13667", "ENSEMBL:ENSP00000499129", "ENSEMBL:ENSP00000499129.1"], "information_content": 90.9}
{"id": "NCBIGene:10143", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "CLEC3A", "equivalent_identifiers": ["NCBIGene:10143", "ENSEMBL:ENSG00000166509", "HGNC:2052", "OMIM:613588", "UMLS:C1539091", "UniProtKB:J3KNC9", "ENSEMBL:ENSP00000499168", "ENSEMBL:ENSP00000499168.1", "UMLS:C0909803", "MESH:C122077", "UniProtKB:O75596", "PR:O75596", "ENSEMBL:ENSP00000299642", "ENSEMBL:ENSP00000299642.5"]}
{"id": "UniProtKB:O14682-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ectoderm-neural cortex protein 1 isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:O14682-1", "PR:O14682-1", "ENSEMBL:ENSP00000306356", "ENSEMBL:ENSP00000306356.4", "ENSEMBL:ENSP00000479101", "ENSEMBL:ENSP00000479101.1", "ENSEMBL:ENSP00000499185", "ENSEMBL:ENSP00000499185.1"], "information_content": 100.0}
{"id": "NCBIGene:728132", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "TSPY9", "equivalent_identifiers": ["NCBIGene:728132", "ENSEMBL:ENSG00000238074", "HGNC:37472", "UMLS:C3543474", "UniProtKB:A0A494C1R9", "PR:A0A494C1R9", "ENSEMBL:ENSP00000499192", "ENSEMBL:ENSP00000499192.1"], "information_content": 100.0}
{"id": "NCBIGene:51540", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SCLY", "equivalent_identifiers": ["NCBIGene:51540", "ENSEMBL:ENSG00000132330", "HGNC:18161", "OMIM:611056", "UMLS:C1425354", "UniProtKB:A0A0A0MQU4", "ENSEMBL:ENSP00000499199", "ENSEMBL:ENSP00000499199.1", "UniProtKB:B4DDP9", "UniProtKB:Q59FK2", "UniProtKB:Q96I15", "PR:Q96I15"]}
{"id": "NCBIGene:101669762", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "BLACAT1", "equivalent_identifiers": ["NCBIGene:101669762", "ENSEMBL:ENSG00000281406", "HGNC:48597", "OMIM:615480", "UMLS:C3809633", "UniProtKB:A0A494BZU2", "ENSEMBL:ENSP00000498225", "ENSEMBL:ENSP00000498225.1", "ENSEMBL:ENSP00000499205", "ENSEMBL:ENSP00000499205.1", "ENSEMBL:ENSP00000514412", "ENSEMBL:ENSP00000514412.1"]}
{"id": "MONDO:0005615", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "plasmacytoma", "equivalent_identifiers": ["MONDO:0005615", "DOID:3721", "orphanet:86855", "EFO:0006738", "UMLS:C0032131", "MESH:D010954", "MEDDRA:10035229", "MEDDRA:10035484", "MEDDRA:10073875", "NCIT:C6932", "NCIT:C9349", "SNOMEDCT:1187107005", "SNOMEDCT:415112005", "medgen:18506", "icd11.foundation:1811140613", "ICD10:C90.3", "HP:0011857"], "information_content": 79.6}
{"id": "UniProtKB:Q9Y2G2-5", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "caspase recruitment domain-containing protein 8 isoform h5 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y2G2-5", "PR:Q9Y2G2-5", "ENSEMBL:ENSP00000375767", "ENSEMBL:ENSP00000375767.3", "ENSEMBL:ENSP00000428883", "ENSEMBL:ENSP00000428883.1", "ENSEMBL:ENSP00000499211", "ENSEMBL:ENSP00000499211.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9BXS6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "nucleolar and spindle-associated protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9BXS6-1", "PR:Q9BXS6-1", "ENSEMBL:ENSP00000453403", "ENSEMBL:ENSP00000453403.1", "ENSEMBL:ENSP00000499238", "ENSEMBL:ENSP00000499238.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14BN4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sarcolemmal membrane-associated protein isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q14BN4-1", "PR:Q14BN4-1", "ENSEMBL:ENSP00000499241", "ENSEMBL:ENSP00000499241.1"], "information_content": 100.0}
{"id": "NCBIGene:3764", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "KCNJ8", "equivalent_identifiers": ["NCBIGene:3764", "ENSEMBL:ENSG00000121361", "HGNC:6269", "OMIM:600935", "UMLS:C1416589", "UniProtKB:Q15842", "PR:Q15842", "ENSEMBL:ENSP00000240662", "ENSEMBL:ENSP00000240662.2", "ENSEMBL:ENSP00000499300", "ENSEMBL:ENSP00000499300.1", "ENSEMBL:ENSP00000499462", "ENSEMBL:ENSP00000499462.1", "UMLS:C1568623"], "information_content": 95.4}
{"id": "UniProtKB:A0AAA9Y8Y6", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0AAA9Y8Y6_HUMAN ERCC excision repair 6 like 2 (trembl)", "equivalent_identifiers": ["UniProtKB:A0AAA9Y8Y6", "ENSEMBL:ENSP00000499371", "ENSEMBL:ENSP00000499371.3"]}
{"id": "NCBIGene:4634", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MYL3", "equivalent_identifiers": ["NCBIGene:4634", "ENSEMBL:ENSG00000160808", "HGNC:7584", "OMIM:160790", "UMLS:C1417548", "UniProtKB:P08590", "PR:P08590", "ENSEMBL:ENSP00000292327", "ENSEMBL:ENSP00000292327.4", "ENSEMBL:ENSP00000379210", "ENSEMBL:ENSP00000379210.1", "ENSEMBL:ENSP00000393455", "ENSEMBL:ENSP00000393455.2", "ENSEMBL:ENSP00000499406", "ENSEMBL:ENSP00000499406.1", "ENSEMBL:ENSP00000499577", "ENSEMBL:ENSP00000499577.1", "ENSEMBL:ENSP00000499624", "ENSEMBL:ENSP00000499624.1", "ENSEMBL:ENSP00000519229", "ENSEMBL:ENSP00000519229.1", "ENSEMBL:ENSP00000519230", "ENSEMBL:ENSP00000519230.1", "UMLS:C4308034", "MESH:C000609827"], "information_content": 92.8}
{"id": "UniProtKB:Q9UHD0-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "interleukin-19 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UHD0-1", "PR:Q9UHD0-1", "ENSEMBL:ENSP00000270218", "ENSEMBL:ENSP00000270218.6", "ENSEMBL:ENSP00000343000", "ENSEMBL:ENSP00000343000.3", "ENSEMBL:ENSP00000499459", "ENSEMBL:ENSP00000499459.2", "ENSEMBL:ENSP00000499487", "ENSEMBL:ENSP00000499487.2"], "information_content": 100.0}
{"id": "UniProtKB:A0A804H2H4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A804H2H4_HUMAN AMP deaminase (trembl)", "equivalent_identifiers": ["UniProtKB:A0A804H2H4", "ENSEMBL:ENSP00000499465", "ENSEMBL:ENSP00000499465.2"]}
{"id": "UniProtKB:Q9Y237-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y237-2", "PR:Q9Y237-2", "ENSEMBL:ENSP00000499466", "ENSEMBL:ENSP00000499466.1"], "information_content": 100.0}
{"id": "NCBIGene:440686", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "H3-7", "equivalent_identifiers": ["NCBIGene:440686", "ENSEMBL:ENSG00000273213", "HGNC:32060", "UMLS:C1825483", "UniProtKB:Q5TEC6", "PR:Q5TEC6", "ENSEMBL:ENSP00000476960", "ENSEMBL:ENSP00000476960.1", "ENSEMBL:ENSP00000499501", "ENSEMBL:ENSP00000499501.1"], "information_content": 92.8}
{"id": "NCBIGene:6468", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "FBXW4", "equivalent_identifiers": ["NCBIGene:6468", "ENSEMBL:ENSG00000107829", "HGNC:10847", "OMIM:608071", "UMLS:C1539501", "UniProtKB:A0A384P5X9", "UMLS:C1563664", "MESH:C120449", "UniProtKB:A0A5F9UQ55", "ENSEMBL:ENSP00000359149", "ENSEMBL:ENSP00000359149.3", "UniProtKB:P57775", "PR:P57775", "ENSEMBL:ENSP00000499522", "ENSEMBL:ENSP00000499522.1", "UMLS:C2700040"], "information_content": 100.0}
{"id": "NCBIGene:4815", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "NINJ2", "equivalent_identifiers": ["NCBIGene:4815", "ENSEMBL:ENSG00000171840", "HGNC:7825", "OMIM:607297", "UMLS:C1417729", "UniProtKB:A0A590UJR9", "ENSEMBL:ENSP00000499548", "ENSEMBL:ENSP00000499548.1", "UMLS:C1610477", "MESH:C504206", "UniProtKB:B4DJC1", "UniProtKB:F5H3L1", "ENSEMBL:ENSP00000438831", "ENSEMBL:ENSP00000438831.1", "UniProtKB:F8WBZ3", "ENSEMBL:ENSP00000380435", "ENSEMBL:ENSP00000380435.3", "UniProtKB:Q9NZG7", "PR:Q9NZG7", "ENSEMBL:ENSP00000307552", "ENSEMBL:ENSP00000307552.5"]}
{"id": "UniProtKB:Q9UI33-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sodium channel protein type 11 subunit alpha isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UI33-1", "PR:Q9UI33-1", "ENSEMBL:ENSP00000307599", "ENSEMBL:ENSP00000307599.3", "ENSEMBL:ENSP00000499569", "ENSEMBL:ENSP00000499569.1"], "information_content": 100.0}
{"id": "UniProtKB:P45379-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "troponin T, cardiac muscle isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P45379-1", "PR:P45379-1", "ENSEMBL:ENSP00000499593", "ENSEMBL:ENSP00000499593.1", "ENSEMBL:ENSP00000519590", "ENSEMBL:ENSP00000519590.1"], "information_content": 100.0}
{"id": "UniProtKB:Q6ZSZ5-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Rho guanine nucleotide exchange factor 18 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q6ZSZ5-4", "PR:Q6ZSZ5-4", "ENSEMBL:ENSP00000499655", "ENSEMBL:ENSP00000499655.2"], "information_content": 100.0}
{"id": "NCBIGene:7351", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "UCP2", "equivalent_identifiers": ["NCBIGene:7351", "ENSEMBL:ENSG00000175567", "HGNC:12518", "OMIM:601693", "UMLS:C1421314", "UniProtKB:P55851", "PR:P55851", "ENSEMBL:ENSP00000312029", "ENSEMBL:ENSP00000312029.3", "ENSEMBL:ENSP00000499695", "ENSEMBL:ENSP00000499695.1", "UMLS:C4308205", "MESH:C000604389"], "information_content": 95.4}
{"id": "UniProtKB:O14512-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "suppressor of cytokine signaling 7 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:O14512-1", "PR:O14512-1", "ENSEMBL:ENSP00000480736", "ENSEMBL:ENSP00000480736.1", "ENSEMBL:ENSP00000499750", "ENSEMBL:ENSP00000499750.1"], "information_content": 100.0}
{"id": "UniProtKB:Q96J02-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "E3 ubiquitin-protein ligase Itchy homolog isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96J02-1", "PR:Q96J02-1", "ENSEMBL:ENSP00000262650", "ENSEMBL:ENSP00000262650.5", "ENSEMBL:ENSP00000499786", "ENSEMBL:ENSP00000499786.1"], "information_content": 100.0}
{"id": "UniProtKB:Q06055-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATP synthase F(0) complex subunit C2, mitochondrial isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q06055-3", "PR:Q06055-3", "ENSEMBL:ENSP00000499883", "ENSEMBL:ENSP00000499883.1"], "information_content": 100.0}
{"id": "NCBIGene:3716", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "JAK1", "equivalent_identifiers": ["NCBIGene:3716", "ENSEMBL:ENSG00000162434", "HGNC:6190", "OMIM:147795", "UMLS:C1334290", "UniProtKB:A0A8V8TPQ9", "ENSEMBL:ENSP00000514240", "ENSEMBL:ENSP00000514240.1", "ENSEMBL:ENSP00000514241", "ENSEMBL:ENSP00000514241.1", "UniProtKB:P23458", "PR:P23458", "ENSEMBL:ENSP00000343204", "ENSEMBL:ENSP00000343204.4", "ENSEMBL:ENSP00000499884", "ENSEMBL:ENSP00000499884.1", "ENSEMBL:ENSP00000499900", "ENSEMBL:ENSP00000499900.1", "ENSEMBL:ENSP00000500296", "ENSEMBL:ENSP00000500296.1", "ENSEMBL:ENSP00000500485", "ENSEMBL:ENSP00000500485.1", "ENSEMBL:ENSP00000500745", "ENSEMBL:ENSP00000500745.2", "ENSEMBL:ENSP00000500841", "ENSEMBL:ENSP00000500841.1", "ENSEMBL:ENSP00000514243", "ENSEMBL:ENSP00000514243.1", "ENSEMBL:ENSP00000514291", "ENSEMBL:ENSP00000514291.1", "UMLS:C1527598", "MESH:C507904", "UniProtKB:Q6P669"], "information_content": 80.6}
{"id": "UniProtKB:P54819-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenylate kinase 2, mitochondrial isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P54819-1", "PR:P54819-1", "ENSEMBL:ENSP00000499935", "ENSEMBL:ENSP00000499935.1"], "information_content": 100.0}
{"id": "UniProtKB:P98198-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipid-transporting ATPase ID isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:P98198-3", "PR:P98198-3", "ENSEMBL:ENSP00000500034", "ENSEMBL:ENSP00000500034.1"], "information_content": 100.0}
{"id": "UniProtKB:Q5T9A4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ATPase family AAA domain-containing protein 3B isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q5T9A4-1", "PR:Q5T9A4-1", "ENSEMBL:ENSP00000500094", "ENSEMBL:ENSP00000500094.1"], "information_content": 100.0}
{"id": "NCBIGene:415", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARSL", "equivalent_identifiers": ["NCBIGene:415", "ENSEMBL:ENSG00000157399", "HGNC:719", "OMIM:300180", "UMLS:C1412558", "UniProtKB:A0A5F9ZHX8", "ENSEMBL:ENSP00000500108", "ENSEMBL:ENSP00000500108.1", "ENSEMBL:ENSP00000500778", "ENSEMBL:ENSP00000500778.1", "ENSEMBL:ENSP00000508337", "ENSEMBL:ENSP00000508337.1", "UMLS:C0670280", "MESH:C110155", "UniProtKB:A0A804HJF6", "ENSEMBL:ENSP00000507481", "ENSEMBL:ENSP00000507481.1", "ENSEMBL:ENSP00000507604", "ENSEMBL:ENSP00000507604.1", "UniProtKB:A1L484", "UniProtKB:B7Z1M0", "UniProtKB:B7Z6V4", "UniProtKB:F5GYY5", "ENSEMBL:ENSP00000441417", "ENSEMBL:ENSP00000441417.1", "ENSEMBL:ENSP00000500220", "ENSEMBL:ENSP00000500220.1", "ENSEMBL:ENSP00000507760", "ENSEMBL:ENSP00000507760.1", "ENSEMBL:ENSP00000508156", "ENSEMBL:ENSP00000508156.1", "UniProtKB:F5H324", "UniProtKB:P51690", "PR:P51690", "ENSEMBL:ENSP00000370526", "ENSEMBL:ENSP00000370526.3", "ENSEMBL:ENSP00000438198", "ENSEMBL:ENSP00000438198.2"]}
{"id": "UniProtKB:A0A5F9ZHB4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "A0A5F9ZHB4_HUMAN Dipeptidase 3 (trembl)", "equivalent_identifiers": ["UniProtKB:A0A5F9ZHB4", "ENSEMBL:ENSP00000500237", "ENSEMBL:ENSP00000500237.1"]}
{"id": "NCBIGene:147407", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC25A52", "equivalent_identifiers": ["NCBIGene:147407", "ENSEMBL:ENSG00000141437", "HGNC:23324", "OMIM:616153", "UMLS:C3469821", "UniProtKB:I3L0B8", "ENSEMBL:ENSP00000500333", "ENSEMBL:ENSP00000500333.1", "UniProtKB:Q3SY17", "PR:Q3SY17", "ENSEMBL:ENSP00000372612", "ENSEMBL:ENSP00000372612.4"]}
{"id": "UniProtKB:Q5VW22-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q5VW22-2", "PR:Q5VW22-2", "ENSEMBL:ENSP00000500374", "ENSEMBL:ENSP00000500374.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9UQM7-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium/calmodulin-dependent protein kinase type II subunit alpha isoform B (human)", "equivalent_identifiers": ["UniProtKB:Q9UQM7-2", "PR:Q9UQM7-2", "ENSEMBL:ENSP00000500386", "ENSEMBL:ENSP00000500386.1", "ENSEMBL:ENSP00000507199", "ENSEMBL:ENSP00000507199.1"], "information_content": 100.0}
{"id": "NCBIGene:2909", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ARHGAP35", "equivalent_identifiers": ["NCBIGene:2909", "ENSEMBL:ENSG00000160007", "HGNC:4591", "OMIM:605277", "UMLS:C1415304", "UniProtKB:Q9NRY4", "PR:Q9NRY4", "ENSEMBL:ENSP00000500409", "ENSEMBL:ENSP00000500409.1", "UMLS:C0119391", "MESH:C074560"], "information_content": 89.4}
{"id": "UniProtKB:Q96LT4-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "sphingomyelin synthase-related protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q96LT4-1", "PR:Q96LT4-1", "ENSEMBL:ENSP00000438042", "ENSEMBL:ENSP00000438042.1", "ENSEMBL:ENSP00000500411", "ENSEMBL:ENSP00000500411.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9Y243-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "RAC-gamma serine/threonine-protein kinase isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:Q9Y243-1", "PR:Q9Y243-1", "ENSEMBL:ENSP00000263826", "ENSEMBL:ENSP00000263826.5", "ENSEMBL:ENSP00000479081", "ENSEMBL:ENSP00000479081.1", "ENSEMBL:ENSP00000500582", "ENSEMBL:ENSP00000500582.1", "ENSEMBL:ENSP00000505276", "ENSEMBL:ENSP00000505276.1"], "information_content": 100.0}
{"id": "UniProtKB:P32243-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "homeobox protein OTX2 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:P32243-2", "PR:P32243-2", "ENSEMBL:ENSP00000451357", "ENSEMBL:ENSP00000451357.2", "ENSEMBL:ENSP00000500115", "ENSEMBL:ENSP00000500115.1", "ENSEMBL:ENSP00000500595", "ENSEMBL:ENSP00000500595.1"], "information_content": 100.0}
{"id": "UniProtKB:Q9HBU6-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ethanolamine kinase 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q9HBU6-1", "PR:Q9HBU6-1", "ENSEMBL:ENSP00000500633", "ENSEMBL:ENSP00000500633.1"], "information_content": 100.0}
{"id": "NCBIGene:8905", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "AP1S2", "equivalent_identifiers": ["NCBIGene:8905", "ENSEMBL:ENSG00000182287", "HGNC:560", "OMIM:300629", "UMLS:C1412440", "UniProtKB:A0A5F9ZHW1", "ENSEMBL:ENSP00000500695", "ENSEMBL:ENSP00000500695.1", "UMLS:C1872066", "MESH:C516800", "UniProtKB:A0A5F9ZI43", "ENSEMBL:ENSP00000500066", "ENSEMBL:ENSP00000500066.1", "ENSEMBL:ENSP00000500850", "ENSEMBL:ENSP00000500850.1", "UniProtKB:A6NH01", "ENSEMBL:ENSP00000369645", "ENSEMBL:ENSP00000369645.1", "UniProtKB:H7BZG6", "ENSEMBL:ENSP00000389474", "ENSEMBL:ENSP00000389474.2", "ENSEMBL:ENSP00000500483", "ENSEMBL:ENSP00000500483.1", "UniProtKB:P56377", "PR:P56377", "UniProtKB:Q549M9"]}
{"id": "UniProtKB:Q9UIF7-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "adenine DNA glycosylase isoform hAlpha-1 (human)", "equivalent_identifiers": ["UniProtKB:Q9UIF7-1", "PR:Q9UIF7-1", "ENSEMBL:ENSP00000361170", "ENSEMBL:ENSP00000361170.3", "ENSEMBL:ENSP00000500891", "ENSEMBL:ENSP00000500891.1"], "information_content": 100.0}
{"id": "NCBIGene:91749", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "SLC60A2", "equivalent_identifiers": ["NCBIGene:91749", "ENSEMBL:ENSG00000173214", "HGNC:21053", "OMIM:617331", "UMLS:C1427275", "UniProtKB:B3KSA1", "UniProtKB:Q5TF39", "PR:Q5TF39", "ENSEMBL:ENSP00000499903", "ENSEMBL:ENSP00000499903.1", "ENSEMBL:ENSP00000500175", "ENSEMBL:ENSP00000500175.1", "ENSEMBL:ENSP00000500686", "ENSEMBL:ENSP00000500686.1", "ENSEMBL:ENSP00000500934", "ENSEMBL:ENSP00000500934.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8NEL9-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "phospholipase DDHD1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8NEL9-1", "PR:Q8NEL9-1", "ENSEMBL:ENSP00000500986", "ENSEMBL:ENSP00000500986.2"], "information_content": 100.0}
{"id": "UniProtKB:P37840-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "alpha-synuclein isoform 1 (human)", "equivalent_identifiers": ["UniProtKB:P37840-1", "PR:P37840-1", "ENSEMBL:ENSP00000338345", "ENSEMBL:ENSP00000338345.3", "ENSEMBL:ENSP00000378437", "ENSEMBL:ENSP00000378437.1", "ENSEMBL:ENSP00000378442", "ENSEMBL:ENSP00000378442.4", "ENSEMBL:ENSP00000422238", "ENSEMBL:ENSP00000422238.1", "ENSEMBL:ENSP00000426955", "ENSEMBL:ENSP00000426955.1", "ENSEMBL:ENSP00000500990", "ENSEMBL:ENSP00000500990.1"], "information_content": 100.0}
{"id": "NCBIGene:115253422", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "DUS4L-BCAP29", "equivalent_identifiers": ["NCBIGene:115253422", "ENSEMBL:ENSG00000288558", "HGNC:54422", "UMLS:C5240999", "UniProtKB:A0A669KAY5", "ENSEMBL:ENSP00000501026", "ENSEMBL:ENSP00000501026.1", "UniProtKB:A0A669KB27", "ENSEMBL:ENSP00000501003", "ENSEMBL:ENSP00000501003.1", "ENSEMBL:ENSP00000501082", "ENSEMBL:ENSP00000501082.1", "ENSEMBL:ENSP00000501094", "ENSEMBL:ENSP00000501094.1", "ENSEMBL:ENSP00000501195", "ENSEMBL:ENSP00000501195.1"]}
{"id": "NCBIGene:113", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "ADCY7", "equivalent_identifiers": ["NCBIGene:113", "ENSEMBL:ENSG00000121281", "HGNC:238", "OMIM:600385", "UMLS:C1412226", "UniProtKB:B3KSJ0", "UMLS:C2742282", "UniProtKB:F5H4D1", "ENSEMBL:ENSP00000457409", "ENSEMBL:ENSP00000457409.2", "UniProtKB:P51828", "PR:P51828", "ENSEMBL:ENSP00000254235", "ENSEMBL:ENSP00000254235.3", "ENSEMBL:ENSP00000378187", "ENSEMBL:ENSP00000378187.2", "ENSEMBL:ENSP00000501053", "ENSEMBL:ENSP00000501053.1", "UniProtKB:Q86YI0"], "information_content": 92.8}
{"id": "NCBIGene:56287", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "GKN1", "equivalent_identifiers": ["NCBIGene:56287", "ENSEMBL:ENSG00000169605", "HGNC:23217", "OMIM:606402", "UMLS:C1427996", "UniProtKB:A0A8I5KHR1", "ENSEMBL:ENSP00000501093", "ENSEMBL:ENSP00000501093.2", "UMLS:C1311366", "MESH:C477000", "UniProtKB:Q53YU7", "UniProtKB:Q9NS71", "PR:Q9NS71", "ENSEMBL:ENSP00000367172", "ENSEMBL:ENSP00000367172.3"]}
{"id": "UniProtKB:Q9BTM9-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "ubiquitin-related modifier 1 isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q9BTM9-2", "PR:Q9BTM9-2", "ENSEMBL:ENSP00000501135", "ENSEMBL:ENSP00000501135.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8IYJ2-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "uncharacterized protein C10orf67, mitochondrial isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q8IYJ2-2", "PR:Q8IYJ2-2", "ENSEMBL:ENSP00000501139", "ENSEMBL:ENSP00000501139.1"], "information_content": 100.0}
{"id": "UniProtKB:Q14541-2", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "hepatocyte nuclear factor 4-gamma isoform h2 (human)", "equivalent_identifiers": ["UniProtKB:Q14541-2", "PR:Q14541-2", "ENSEMBL:ENSP00000501146", "ENSEMBL:ENSP00000501146.1"], "information_content": 100.0}
{"id": "NCBIGene:5291", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "PIK3CB", "equivalent_identifiers": ["NCBIGene:5291", "ENSEMBL:ENSG00000051382", "HGNC:8976", "OMIM:602925", "UMLS:C1335213", "UniProtKB:B4DER4", "UniProtKB:P42338", "PR:P42338", "ENSEMBL:ENSP00000289153", "ENSEMBL:ENSP00000289153.2", "ENSEMBL:ENSP00000418143", "ENSEMBL:ENSP00000418143.1", "ENSEMBL:ENSP00000501150", "ENSEMBL:ENSP00000501150.1", "UMLS:C1566348", "MESH:C497132"], "information_content": 92.8}
{"id": "NCBIGene:4142", "category": ["biolink:Gene", "biolink:GeneOrGeneProduct", "biolink:GenomicEntity", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:OntologyClass", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:PhysicalEssenceOrOccurrent", "biolink:MacromolecularMachineMixin", "biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrProteinOrPolypeptide"], "name": "MAS1", "equivalent_identifiers": ["NCBIGene:4142", "ENSEMBL:ENSG00000130368", "HGNC:6899", "OMIM:165180", "UMLS:C0812372", "UniProtKB:P04201", "PR:P04201", "ENSEMBL:ENSP00000252660", "ENSEMBL:ENSP00000252660.4", "ENSEMBL:ENSP00000501180", "ENSEMBL:ENSP00000501180.2", "UMLS:C1622222", "MESH:C000715470", "UniProtKB:W8W3P4"], "information_content": 100.0}
{"id": "UniProtKB:Q496A3-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "spermatogenesis-associated serine-rich protein 1 isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q496A3-1", "PR:Q496A3-1", "ENSEMBL:ENSP00000424400", "ENSEMBL:ENSP00000424400.1", "ENSEMBL:ENSP00000437552", "ENSEMBL:ENSP00000437552.1", "ENSEMBL:ENSP00000501191", "ENSEMBL:ENSP00000501191.1"], "information_content": 100.0}
{"id": "UniProtKB:Q8WWU5-7", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "T-complex protein 11 homolog isoform h7 (human)", "equivalent_identifiers": ["UniProtKB:Q8WWU5-7", "PR:Q8WWU5-7", "ENSEMBL:ENSP00000501201", "ENSEMBL:ENSP00000501201.1"], "information_content": 100.0}
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{"id": "UniProtKB:Q149M9-3", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "NACHT domain- and WD repeat-containing protein 1 isoform h3 (human)", "equivalent_identifiers": ["UniProtKB:Q149M9-3", "PR:Q149M9-3", "ENSEMBL:ENSP00000428579", "ENSEMBL:ENSP00000428579.2", "ENSEMBL:ENSP00000501265", "ENSEMBL:ENSP00000501265.1"], "information_content": 100.0}
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{"id": "MONDO:0033885", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial complex IV deficiency, nuclear-type", "equivalent_identifiers": ["MONDO:0033885", "DOID:3762", "OMIM.PS:220110", "orphanet:254905", "UMLS:C0268237", "MESH:D030401", "NCIT:C98910", "SNOMEDCT:67434000"], "information_content": 79.9}
{"id": "MONDO:0017276", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "frontotemporal dementia", "equivalent_identifiers": ["MONDO:0017276", "DOID:9255", "orphanet:282", "UMLS:C0338451", "MESH:D057180", "MEDDRA:10068968", "NCIT:C84719", "SNOMEDCT:230270009", "medgen:83266", "icd11.foundation:831337417", "HP:0002145"], "information_content": 76.9}
{"id": "MONDO:0002441", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Jervell and Lange-Nielsen syndrome", "equivalent_identifiers": ["MONDO:0002441", "DOID:2842", "OMIM.PS:220400", "orphanet:90647", "UMLS:C0022387", "MESH:D029593", "MEDDRA:10057936", "NCIT:C84793", "SNOMEDCT:373905003", "medgen:5929"], "information_content": 92.8}
{"id": "MONDO:0004083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Borst-Jadassohn intraepidermal carcinoma", "equivalent_identifiers": ["MONDO:0004083", "DOID:7039", "UMLS:C0334260", "UMLS:C2937231", "NCIT:C4110", "SNOMEDCT:274897005", "SNOMEDCT:39332000", "SNOMEDCT:403886007", "medgen:424845"], "information_content": 100.0}
{"id": "MONDO:0007747", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "isolated hyperchlorhidrosis", "equivalent_identifiers": ["MONDO:0007747", "DOID:0111371", "OMIM:143860", "orphanet:542657", "UMLS:C1840437", "SNOMEDCT:709413001", "medgen:333560"], "information_content": 100.0}
{"id": "MONDO:0009183", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "junctional epidermolysis bullosa with pyloric atresia", "equivalent_identifiers": ["MONDO:0009183", "DOID:0060733", "OMIM:226730", "orphanet:79403", "UMLS:C1856934", "UMLS:C5676875", "MESH:C535377", "NCIT:C162474", "medgen:1810975", "icd11.foundation:1877890811", "ICD10:Q81.8"], "information_content": 100.0}
{"id": "MONDO:0018214", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "generalized epilepsy with febrile seizures plus", "equivalent_identifiers": ["MONDO:0018214", "DOID:0060170", "OMIM.PS:604233", "orphanet:36387", "UMLS:C3502809", "MESH:C565808", "NCIT:C122811", "SNOMEDCT:699688008", "medgen:503203", "ICD10:G40.3"], "information_content": 84.2}
{"id": "MONDO:0030608", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "interstitial lung disease 1", "equivalent_identifiers": ["MONDO:0030608", "DOID:0060941", "OMIM:619611", "UMLS:C5562021", "medgen:1794231"], "information_content": 100.0}
{"id": "MONDO:0001115", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial polycythemia", "equivalent_identifiers": ["MONDO:0001115", "DOID:10780", "OMIM.PS:133100", "UMLS:C0152264", "MEDDRA:10016209", "MEDDRA:10016210", "NCIT:C26955", "medgen:57520", "ICD9:289.6"], "information_content": 85.5}
{"id": "MONDO:0009678", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "equivalent_identifiers": ["MONDO:0009678", "DOID:0050559", "OMIM:253800", "orphanet:272", "UMLS:C0410174", "NCIT:C126741", "SNOMEDCT:111502003", "medgen:140820"], "information_content": 100.0}
{"id": "MONDO:0000171", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "muscular dystrophy-dystroglycanopathy, type A", "equivalent_identifiers": ["MONDO:0000171", "DOID:0050560", "OMIM.PS:236670", "orphanet:899", "UMLS:C0265221", "MESH:D058494", "NCIT:C99109", "SNOMEDCT:111504002", "medgen:75553"], "information_content": 82.1}
{"id": "MONDO:0018937", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mucopolysaccharidosis type 3", "equivalent_identifiers": ["MONDO:0018937", "DOID:12801", "orphanet:581", "UMLS:C0026706", "MESH:D009084", "MEDDRA:10056890", "MEDDRA:10056918", "NCIT:C61262", "SNOMEDCT:88393000", "medgen:6452", "icd11.foundation:1477250013"], "information_content": 89.4}
{"id": "MONDO:0020300", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal dominant nocturnal frontal lobe epilepsy", "equivalent_identifiers": ["MONDO:0020300", "DOID:0060681", "orphanet:98784", "UMLS:C3696898", "MESH:C579932", "SNOMEDCT:698021005", "medgen:777188", "icd11.foundation:1004734747"], "information_content": 88.2}
{"id": "MONDO:0020310", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial focal epilepsy with variable foci", "equivalent_identifiers": ["MONDO:0020310", "DOID:0081420", "OMIM.PS:604364", "orphanet:98820", "UMLS:C1858477", "MESH:C565785", "SNOMEDCT:764522009", "medgen:348951", "icd11.foundation:855404450"], "information_content": 89.4}
{"id": "MONDO:0012994", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dopa-responsive dystonia due to sepiapterin reductase deficiency", "equivalent_identifiers": ["MONDO:0012994", "DOID:0111168", "OMIM:612716", "orphanet:70594", "UMLS:C0268468", "UMLS:C5550996", "MESH:C562657", "SNOMEDCT:1187545003", "SNOMEDCT:45116002", "medgen:120642"], "information_content": 100.0}
{"id": "MONDO:0011393", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hypoalphalipoproteinemia, primary, 1", "equivalent_identifiers": ["MONDO:0011393", "DOID:0080957", "OMIM:604091", "UMLS:C5231558", "medgen:1684828"], "information_content": 100.0}
{"id": "MONDO:0009339", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital bile acid synthesis defect 2", "equivalent_identifiers": ["MONDO:0009339", "DOID:0111069", "OMIM:235555", "orphanet:79303", "UMLS:C1856127", "MESH:C535443", "SNOMEDCT:238035000", "medgen:383840"], "information_content": 100.0}
{"id": "MONDO:0020088", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial partial lipodystrophy", "equivalent_identifiers": ["MONDO:0020088", "DOID:0050440", "OMIM.PS:151660", "orphanet:98306", "UMLS:C0271694", "MESH:D052496", "MEDDRA:10087377", "NCIT:C84708", "SNOMEDCT:49292002", "medgen:124408", "icd11.foundation:1661968243"], "information_content": 84.2}
{"id": "MONDO:0005357", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Creutzfeldt Jacob disease", "equivalent_identifiers": ["MONDO:0005357", "DOID:11949", "EFO:0004226", "UMLS:C0022336", "MESH:D007562", "MEDDRA:10009216", "MEDDRA:10009217", "MEDDRA:10011382", "MEDDRA:10011384", "MEDDRA:10023116", "MEDDRA:10023117", "MEDDRA:10055172", "NCIT:C26802", "SNOMEDCT:792004", "medgen:7179", "ICD10:A81.0", "ICD9:046.1"], "information_content": 86.3}
{"id": "MONDO:0001703", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "color blindness", "equivalent_identifiers": ["MONDO:0001703", "DOID:13399", "orphanet:98658", "UMLS:C0009398", "UMLS:C0234629", "UMLS:C0242225", "UMLS:C3552853", "UMLS:C4229565", "UMLS:C5681659", "MESH:D003117", "MEDDRA:10005172", "MEDDRA:10005173", "MEDDRA:10010016", "MEDDRA:10010017", "MEDDRA:10010050", "MEDDRA:10010052", "MEDDRA:10012122", "MEDDRA:10055520", "NCIT:C3891", "SNOMEDCT:193683001", "SNOMEDCT:23289000", "SNOMEDCT:367469000", "medgen:1826147", "ICD10:H53.5", "ICD9:368.5", "HP:0000551"], "information_content": 80.9}
{"id": "MONDO:0013336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chromosome 19p13.13 deletion syndrome", "equivalent_identifiers": ["MONDO:0013336", "DOID:0060426", "OMIM:613638", "orphanet:357001", "UMLS:C3150894", "UMLS:C3150895", "SNOMEDCT:764440006", "medgen:462244"], "information_content": 100.0}
{"id": "MONDO:0013350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 4b", "equivalent_identifiers": ["MONDO:0013350", "DOID:0080123", "OMIM:613662", "UMLS:C3150914", "medgen:462264"], "information_content": 100.0}
{"id": "MONDO:0012792", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome 8a", "equivalent_identifiers": ["MONDO:0012792", "DOID:0070331", "DOID:0080127", "OMIM:604712", "OMIM:612075", "orphanet:255235", "EFO:0022093", "UMLS:C2749861", "UMLS:C2749862", "UMLS:C3150172", "SNOMEDCT:765100000", "medgen:412815"], "information_content": 100.0}
{"id": "MONDO:0011583", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cerebral amyloid angiopathy, APP-related", "equivalent_identifiers": ["MONDO:0011583", "DOID:0070028", "OMIM:605714", "UMLS:C2751536", "MESH:C537944", "NCIT:C157147", "medgen:414044"], "information_content": 87.2}
{"id": "MONDO:0007488", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Lewy Bodies", "equivalent_identifiers": ["MONDO:0007488", "DOID:12217", "OMIM:127750", "EFO:0006792", "UMLS:C0085200", "UMLS:C0752347", "UMLS:C1851957", "UMLS:C1851958", "MESH:C565077", "MESH:C565078", "MESH:D020961", "MEDDRA:10057095", "MEDDRA:10067889", "NCIT:C84826", "SNOMEDCT:312991009", "SNOMEDCT:43127003", "SNOMEDCT:80098002", "medgen:199874", "ICD10:G31.83", "ICD9:331.82", "HP:0100315"], "information_content": 90.9}
{"id": "MONDO:0015277", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "medullary thyroid gland carcinoma", "equivalent_identifiers": ["MONDO:0015277", "DOID:3973", "orphanet:1332", "UMLS:C0238462", "UMLS:C0334379", "MESH:C536914", "MEDDRA:10027101", "MEDDRA:10027105", "NCIT:C3879", "NCIT:C4193", "SNOMEDCT:128916007", "SNOMEDCT:1332275004", "SNOMEDCT:255032005", "medgen:66772", "icd11.foundation:578519098", "HP:0002865"], "information_content": 76.0}
{"id": "MONDO:0012817", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Ewing sarcoma", "equivalent_identifiers": ["MONDO:0012817", "DOID:3369", "OMIM:612219", "orphanet:319", "EFO:0000174", "UMLS:C0553580", "UMLS:C0796547", "UMLS:C0863029", "UMLS:C1334408", "MESH:D012512", "MEDDRA:10015560", "MEDDRA:10015561", "MEDDRA:10015563", "MEDDRA:10015565", "MEDDRA:10015566", "MEDDRA:10015567", "MEDDRA:10015570", "MEDDRA:10058254", "MEDDRA:10062425", "NCIT:C27901", "NCIT:C27903", "NCIT:C4817", "NCIT:C7806", "SNOMEDCT:76909002", "medgen:107816", "icd11.foundation:458106328", "HP:0012254"], "information_content": 78.5}
{"id": "MONDO:0011996", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "chronic myelogenous leukemia, BCR-ABL1 positive", "equivalent_identifiers": ["MONDO:0011996", "DOID:0081088", "DOID:8552", "OMIM:608232", "orphanet:521", "EFO:0000339", "UMLS:C0023473", "UMLS:C0279543", "UMLS:C1292771", "UMLS:C5193152", "MESH:D015464", "MEDDRA:10008904", "MEDDRA:10008905", "MEDDRA:10009011", "MEDDRA:10009012", "MEDDRA:10009013", "MEDDRA:10009015", "MEDDRA:10009700", "MEDDRA:10024296", "MEDDRA:10024347", "MEDDRA:10028553", "MEDDRA:10028558", "MEDDRA:10058245", "MEDDRA:10058246", "MEDDRA:10058247", "NCIT:C3174", "NCIT:C9128", "SNOMEDCT:1162588009", "SNOMEDCT:63364005", "SNOMEDCT:92818009", "medgen:75993", "ICD9:205.1", "KEGG.DISEASE:05220", "HP:0005506"], "information_content": 72.7}
{"id": "MONDO:0002413", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "glycogen storage disease I", "equivalent_identifiers": ["MONDO:0002413", "DOID:0081329", "orphanet:364", "UMLS:C0017920", "MESH:D005953", "MEDDRA:10018464", "MEDDRA:10045239", "MEDDRA:10047711", "MEDDRA:10057085", "NCIT:C84733", "SNOMEDCT:124437004", "SNOMEDCT:7265005", "medgen:6640", "ICD10:E74.01"], "information_content": 89.4}
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{"id": "MONDO:0000694", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "seasonal affective disorder", "equivalent_identifiers": ["MONDO:0000694", "DOID:0060167", "UMLS:C0085159", "MESH:D016574", "MEDDRA:10039775", "MEDDRA:10064243", "SNOMEDCT:247803002", "medgen:38984"], "information_content": 95.4}
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{"id": "UniProtKB:P41219-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "peripherin isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:P41219-1", "PR:P41219-1", "ENSEMBL:ENSP00000257860", "ENSEMBL:ENSP00000257860.4"], "information_content": 100.0}
{"id": "MONDO:0019507", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "amelogenesis imperfecta", "equivalent_identifiers": ["MONDO:0019507", "DOID:2187", "OMIM.PS:104500", "orphanet:88661", "UMLS:C0002452", "MESH:D000567", "MEDDRA:10081678", "SNOMEDCT:78494001", "medgen:240", "icd11.foundation:1923123066", "HP:0000705"], "information_content": 79.0}
{"id": "MONDO:0019403", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital dyserythropoietic anemia", "equivalent_identifiers": ["MONDO:0019403", "DOID:1338", "OMIM.PS:224120", "orphanet:85", "UMLS:C0002876", "MESH:D000742", "MEDDRA:10081457", "MEDDRA:10081467", "NCIT:C84646", "SNOMEDCT:52951008", "medgen:8064", "icd11.foundation:899830967", "ICD10:D64.4"], "information_content": 83.6}
{"id": "MONDO:0009758", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital stationary night blindness 1B", "equivalent_identifiers": ["MONDO:0009758", "DOID:0110865", "OMIM:257270", "UMLS:C1850362", "medgen:342484"], "information_content": 100.0}
{"id": "MONDO:0008086", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuropathy, hereditary sensory and autonomic, type 1A", "equivalent_identifiers": ["MONDO:0008086", "DOID:0070152", "OMIM:162400", "UMLS:C5235211", "SNOMEDCT:860813007", "medgen:1716450"], "information_content": 100.0}
{"id": "MONDO:0010150", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "head and neck squamous cell carcinoma", "equivalent_identifiers": ["MONDO:0010150", "DOID:5520", "OMIM:275355", "EFO:0000181", "UMLS:C1168401", "MESH:C535575", "MESH:D000077195", "MEDDRA:10060121", "NCIT:C34447", "SNOMEDCT:716659002", "medgen:257911"], "information_content": 62.2}
{"id": "MONDO:0007818", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Job Syndrome", "equivalent_identifiers": ["MONDO:0007818", "DOID:3261", "OMIM:147060", "orphanet:2314", "UMLS:C1840265", "UMLS:C1968689", "UMLS:C2936739", "UMLS:C3489795", "MESH:C564135", "MESH:C567925", "MESH:D007589", "MEDDRA:10023196", "MEDDRA:10051040", "MEDDRA:10051063", "NCIT:C126342", "SNOMEDCT:1351326006", "SNOMEDCT:50926003", "medgen:445391"], "information_content": 100.0}
{"id": "MONDO:0016586", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "systemic mastocytosis", "equivalent_identifiers": ["MONDO:0016586", "DOID:349", "orphanet:2467", "UMLS:C0221013", "MESH:D034721", "MEDDRA:10042949", "NCIT:C9235", "SNOMEDCT:1255137009", "SNOMEDCT:397016004", "medgen:67436", "icd11.foundation:1144812971", "ICD10:D47.02"], "information_content": 80.6}
{"id": "MONDO:0015253", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Diamond-Blackfan anemia", "equivalent_identifiers": ["MONDO:0015253", "DOID:1339", "OMIM.PS:105650", "orphanet:124", "UMLS:C1260899", "UMLS:C1542667", "MESH:D029503", "MEDDRA:10062988", "MEDDRA:10062989", "NCIT:C61236", "SNOMEDCT:234371002", "SNOMEDCT:88854002", "medgen:266045", "ICD10:D61.01", "HP:0004810"], "information_content": 79.3}
{"id": "MONDO:0009443", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive congenital ichthyosis 4B", "equivalent_identifiers": ["MONDO:0009443", "DOID:0060713", "OMIM:242500", "orphanet:457", "UMLS:C0598226", "MESH:C538424", "MEDDRA:10087827", "NCIT:C98934", "SNOMEDCT:205548006", "medgen:108615", "ICD10:Q80.4"], "information_content": 100.0}
{"id": "MONDO:0003336", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acute necrotizing encephalitis", "equivalent_identifiers": ["MONDO:0003336", "DOID:5222", "UMLS:C0338418", "NCIT:C35383", "SNOMEDCT:111897007", "medgen:83264"], "information_content": 100.0}
{"id": "MONDO:0009698", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Unverricht-Lundborg syndrome", "equivalent_identifiers": ["MONDO:0009698", "DOID:0111452", "DOID:3535", "OMIM:254800", "orphanet:308", "UMLS:C0751785", "MESH:D020194", "MEDDRA:10054858", "MEDDRA:10054894", "MEDDRA:10054895", "NCIT:C179710", "SNOMEDCT:230423006", "medgen:155923"], "information_content": 100.0}
{"id": "MONDO:0005147", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "type 1 diabetes mellitus", "equivalent_identifiers": ["MONDO:0005147", "DOID:9744", "OMIM:222100", "UMLS:C0011854", "MESH:D003922", "MEDDRA:10012608", "MEDDRA:10012609", "MEDDRA:10021211", "MEDDRA:10022482", "MEDDRA:10022497", "MEDDRA:10023253", "MEDDRA:10045228", "MEDDRA:10067584", "MEDDRA:10085412", "NCIT:C2986", "SNOMEDCT:46635009", "medgen:41522", "icd11.foundation:1651053999", "KEGG.DISEASE:04940", "HP:0100651"], "information_content": 77.6}
{"id": "MONDO:0013989", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 14", "equivalent_identifiers": ["MONDO:0013989", "DOID:0080439", "OMIM:614959", "UMLS:C3554195", "NCIT:C188141", "medgen:767109"], "information_content": 100.0}
{"id": "MONDO:0010693", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "nystagmus 1, congenital, X-linked", "equivalent_identifiers": ["MONDO:0010693", "DOID:0111790", "OMIM:310700", "UMLS:C1839580", "UMLS:C3151880", "MESH:C537853", "medgen:333352"], "information_content": 100.0}
{"id": "MONDO:0012301", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome, myopathic form", "equivalent_identifiers": ["MONDO:0012301", "DOID:0080120", "OMIM:609560", "orphanet:254875", "UMLS:C3149750", "UMLS:C3501891", "MESH:C563698", "NCIT:C185236", "SNOMEDCT:703527003", "medgen:461100", "icd11.foundation:294556832"], "information_content": 100.0}
{"id": "MONDO:0009395", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hyperostosis corticalis generalisata", "equivalent_identifiers": ["MONDO:0009395", "DOID:0080036", "OMIM:239100", "orphanet:3416", "UMLS:C0432272", "NCIT:C131812", "SNOMEDCT:59763006", "medgen:98484", "icd11.foundation:241514592"], "information_content": 100.0}
{"id": "MONDO:0000700", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial hemiplegic migraine", "equivalent_identifiers": ["MONDO:0000700", "DOID:0060178", "OMIM.PS:141500", "UMLS:C0338484", "UMLS:C0477373", "MEDDRA:10067039", "NCIT:C117009", "SNOMEDCT:95656000", "medgen:87374", "icd11.foundation:1827007904", "ICD10:G43.8", "ICD9:346.8"], "information_content": 88.2}
{"id": "MONDO:0019941", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary sensory and autonomic neuropathy type 2", "equivalent_identifiers": ["MONDO:0019941", "DOID:0070161", "orphanet:970", "UMLS:C0020072", "UMLS:C5574675", "SNOMEDCT:398148000", "medgen:1800880"], "information_content": 90.9}
{"id": "MONDO:0007745", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Gilbert Disease", "equivalent_identifiers": ["MONDO:0007745", "DOID:2739", "OMIM:143500", "EFO:0005556", "UMLS:C0017551", "MESH:D005878", "MEDDRA:10018267", "NCIT:C84729", "SNOMEDCT:27503000", "medgen:4891", "icd11.foundation:1947520963", "ICD10:E80.4"], "information_content": 100.0}
{"id": "MONDO:0002350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial nephrotic syndrome", "equivalent_identifiers": ["MONDO:0002350", "DOID:2590", "OMIM.PS:256300", "UMLS:C3501848", "MESH:C535761", "MEDDRA:10060737", "MEDDRA:10060741", "NCIT:C35337", "SNOMEDCT:48796009", "medgen:502251", "icd11.foundation:1524476844", "HP:0008677"], "information_content": 76.5}
{"id": "MONDO:0009685", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Miyoshi myopathy", "equivalent_identifiers": ["MONDO:0009685", "DOID:0070198", "OMIM.PS:254130", "orphanet:45448", "UMLS:C5553104", "MESH:C537480", "NCIT:C118846", "medgen:1790866"], "information_content": 90.9}
{"id": "MONDO:0012789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "dystonia 16", "equivalent_identifiers": ["MONDO:0012789", "DOID:0090048", "OMIM:612067", "orphanet:210571", "UMLS:C2677567", "MESH:C567430", "NCIT:C168729", "SNOMEDCT:722435003", "medgen:436979", "icd11.foundation:548945828"], "information_content": 100.0}
{"id": "MONDO:0006618", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vibratory urticaria", "equivalent_identifiers": ["MONDO:0006618", "DOID:1554", "EFO:1000775", "UMLS:C0157743", "MEDDRA:10047396", "MEDDRA:10052571", "SNOMEDCT:51247001", "medgen:510413", "ICD10:L50.4", "ICD9:708.4", "HP:0410138"], "information_content": 95.4}
{"id": "MONDO:0005029", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "essential thrombocythemia", "equivalent_identifiers": ["MONDO:0005029", "DOID:2224", "orphanet:3318", "EFO:0000479", "UMLS:C0040028", "MESH:D013920", "MEDDRA:10015493", "MEDDRA:10015494", "MEDDRA:10015495", "MEDDRA:10053263", "MEDDRA:10086933", "MEDDRA:10086934", "NCIT:C3407", "SNOMEDCT:109994006", "SNOMEDCT:128844009", "medgen:11797", "ICD10:D47.3", "ICD9:238.71"], "information_content": 92.8}
{"id": "MONDO:0012444", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Karak Syndrome", "equivalent_identifiers": ["MONDO:0012444", "DOID:0110736", "OMIM:610217", "UMLS:C1857747", "UMLS:C2750220", "MESH:C548029", "MESH:C565699", "medgen:346658"], "information_content": 100.0}
{"id": "MONDO:0016660", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "autosomal recessive primary microcephaly", "equivalent_identifiers": ["MONDO:0016660", "DOID:0070296", "OMIM.PS:251200", "orphanet:2512", "UMLS:C3711387", "MESH:C579935", "SNOMEDCT:715981004", "medgen:777995"], "information_content": 77.1}
{"id": "MONDO:0008243", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pick disease", "equivalent_identifiers": ["MONDO:0008243", "DOID:11870", "OMIM:172700", "EFO:0003096", "UMLS:C0236642", "MESH:D020774", "MEDDRA:10009204", "MEDDRA:10035003", "NCIT:C85008", "SNOMEDCT:13092008", "medgen:116020", "ICD10:G31.01", "ICD9:331.11"], "information_content": 100.0}
{"id": "DOID:0111252", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "vestibular schwannomatosis", "equivalent_identifiers": ["DOID:0111252", "OMIM:101000", "UMLS:C0027832", "MESH:D016518", "MEDDRA:10029271", "NCIT:C3274", "SNOMEDCT:92503002", "ICD10:Q85.02", "ICD9:237.72"], "information_content": 90.9}
{"id": "MONDO:0012904", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, progressive myoclonic, 1B", "equivalent_identifiers": ["MONDO:0012904", "DOID:0111448", "OMIM:612437", "UMLS:C2676254", "MESH:C580388", "SNOMEDCT:702326000", "medgen:394003"], "information_content": 100.0}
{"id": "MONDO:0013801", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 13", "equivalent_identifiers": ["MONDO:0013801", "DOID:0080445", "OMIM:614558", "UMLS:C3281191", "NCIT:C188139", "SNOMEDCT:765170001", "medgen:482821"], "information_content": 100.0}
{"id": "MONDO:0008814", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Argininemia", "equivalent_identifiers": ["MONDO:0008814", "DOID:9278", "OMIM:207800", "orphanet:90", "UMLS:C0268548", "MESH:D020162", "MEDDRA:10062695", "MEDDRA:10083974", "MEDDRA:10090356", "MEDDRA:10090357", "NCIT:C84568", "SNOMEDCT:23501004", "medgen:78688", "icd11.foundation:1619102598", "ICD10:E72.21"], "information_content": 100.0}
{"id": "MONDO:0010286", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "syndromic X-linked intellectual disability Siderius type", "equivalent_identifiers": ["MONDO:0010286", "DOID:0060812", "OMIM:300263", "orphanet:85287", "UMLS:C1846055", "MESH:C537333", "medgen:337375"], "information_content": 100.0}
{"id": "MONDO:0008437", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 3A", "equivalent_identifiers": ["MONDO:0008437", "DOID:0110791", "OMIM:182600", "orphanet:100984", "UMLS:C2931355", "MESH:C536864", "MEDDRA:10052491", "NCIT:C142893", "SNOMEDCT:782670003", "medgen:419393"], "information_content": 100.0}
{"id": "MONDO:0016027", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "benign neonatal seizures", "equivalent_identifiers": ["MONDO:0016027", "DOID:14264", "DOID:14777", "OMIM.PS:121200", "orphanet:1949", "UMLS:C0220669", "UMLS:C0270851", "UMLS:C3889476", "UMLS:C5967415", "MESH:D020936", "MEDDRA:10067866", "NCIT:C117307", "NCIT:C84593", "SNOMEDCT:279953009", "SNOMEDCT:38281008", "medgen:65082"], "information_content": 89.4}
{"id": "MONDO:0014016", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary spastic paraplegia 49", "equivalent_identifiers": ["MONDO:0014016", "DOID:0110801", "OMIM:615031", "orphanet:320385", "UMLS:C3542549", "medgen:762260"], "information_content": 100.0}
{"id": "MONDO:0100350", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuronopathy, distal hereditary motor, type 5", "equivalent_identifiers": ["MONDO:0100350", "DOID:0111203", "orphanet:139536", "UMLS:C1833308", "MESH:C563443", "SNOMEDCT:1197152005", "medgen:318838"], "information_content": 90.9}
{"id": "MONDO:0008083", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ceroid lipofuscinosis, neuronal, 4 (Kufs type)", "equivalent_identifiers": ["MONDO:0008083", "DOID:0110720", "OMIM:162350", "orphanet:228343", "UMLS:C1834207", "UMLS:C4284284", "NCIT:C128116", "medgen:320287", "ICD10:E75.4"], "information_content": 100.0}
{"id": "MONDO:0016241", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "alternating hemiplegia of childhood", "equivalent_identifiers": ["MONDO:0016241", "DOID:0050635", "OMIM.PS:104290", "orphanet:2131", "UMLS:C0338488", "MESH:C536589", "MEDDRA:10077948", "NCIT:C35261", "SNOMEDCT:230466004", "medgen:90925", "icd11.foundation:301329822", "ICD10:G98"], "information_content": 89.4}
{"id": "MONDO:0010789", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "MELAS syndrome", "equivalent_identifiers": ["MONDO:0010789", "DOID:3687", "OMIM:540000", "orphanet:550", "UMLS:C0162671", "MESH:D017241", "MEDDRA:10053872", "MEDDRA:10067602", "NCIT:C84885", "SNOMEDCT:39925003", "medgen:56485", "ICD10:E88.41"], "information_content": 84.2}
{"id": "MONDO:0008070", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital myopathy 2a, typical, autosomal dominant", "equivalent_identifiers": ["MONDO:0008070", "DOID:0110927", "OMIM:161800", "orphanet:98904", "UMLS:C3711377", "UMLS:C3711389", "MESH:C579880", "MESH:C580202", "NCIT:C129870", "SNOMEDCT:702349003", "medgen:777997"], "information_content": 100.0}
{"id": "MONDO:0013144", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "hereditary antithrombin deficiency", "equivalent_identifiers": ["MONDO:0013144", "DOID:3755", "OMIM:613118", "orphanet:82", "UMLS:C0272375", "MESH:D020152", "MEDDRA:10002832", "MEDDRA:10083881", "NCIT:C98815", "SNOMEDCT:36351005", "medgen:75781", "HP:0001976"], "information_content": 100.0}
{"id": "MONDO:0008827", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive pseudorheumatoid arthropathy of childhood", "equivalent_identifiers": ["MONDO:0008827", "DOID:0090004", "OMIM:208230", "orphanet:1159", "UMLS:C0432215", "MESH:C535387", "NCIT:C202612", "SNOMEDCT:254065005", "medgen:96581", "icd11.foundation:280808713", "ICD10:Q77.7"], "information_content": 100.0}
{"id": "MONDO:0010706", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "premature ovarian failure 1", "equivalent_identifiers": ["MONDO:0010706", "DOID:0080857", "OMIM:311360", "orphanet:642691", "UMLS:C3494522", "UMLS:C4552079", "SNOMEDCT:1332509007", "medgen:1644269"], "information_content": 95.4}
{"id": "MONDO:0700090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "epilepsy, familial temporal lobe, 1", "equivalent_identifiers": ["MONDO:0700090", "DOID:0060748", "OMIM:600512", "UMLS:C4551957", "NCIT:C141441", "medgen:1643229"], "information_content": 100.0}
{"id": "MONDO:0014379", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder", "equivalent_identifiers": ["MONDO:0014379", "DOID:0070058", "OMIM:615873", "orphanet:404448", "UMLS:C4014538", "MESH:C000730394", "MEDDRA:10083856", "MEDDRA:10083872", "NCIT:C160662", "SNOMEDCT:766824003", "medgen:862975"], "information_content": 100.0}
{"id": "MONDO:0014477", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 26", "equivalent_identifiers": ["MONDO:0014477", "DOID:0080461", "OMIM:616056", "UMLS:C4015119", "NCIT:C175047", "medgen:863556"], "information_content": 100.0}
{"id": "MONDO:0015991", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "citrullinemia", "equivalent_identifiers": ["MONDO:0015991", "DOID:9273", "OMIM.PS:215700", "orphanet:187", "UMLS:C0175683", "MESH:D020159", "MEDDRA:10058298", "MEDDRA:10058302", "MEDDRA:10058303", "NCIT:C84639", "SNOMEDCT:124711003", "medgen:104491", "icd11.foundation:640937125", "ICD10:E72.23"], "information_content": 86.3}
{"id": "MONDO:0007738", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "equivalent_identifiers": ["MONDO:0007738", "DOID:0050813", "OMIM:143095", "orphanet:263463", "UMLS:C1837657", "UMLS:C2931466", "MESH:C535789", "MESH:C537283", "SNOMEDCT:702400006", "SNOMEDCT:725417001", "medgen:373381"], "information_content": 100.0}
{"id": "MONDO:0010519", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "ATR-X syndrome", "equivalent_identifiers": ["MONDO:0010519", "DOID:0110030", "OMIM:301040", "orphanet:847", "UMLS:C1845055", "MESH:C538258", "MEDDRA:10083889", "MEDDRA:10083890", "MEDDRA:10083895", "NCIT:C118631", "SNOMEDCT:715342005", "medgen:337145"], "information_content": 100.0}
{"id": "MONDO:0008975", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "otospondylomegaepiphyseal dysplasia", "equivalent_identifiers": ["MONDO:0008975", "DOID:0080026", "OMIM.PS:184840", "orphanet:1427", "UMLS:C4520892", "MEDDRA:10084407", "SNOMEDCT:254060000", "medgen:1617409", "icd11.foundation:1885284987"], "information_content": 92.8}
{"id": "MONDO:0011638", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "neuroferritinopathy", "equivalent_identifiers": ["MONDO:0011638", "DOID:0110737", "OMIM:606159", "orphanet:157846", "UMLS:C1853578", "MESH:C548080", "SNOMEDCT:699299001", "medgen:381211"], "information_content": 100.0}
{"id": "MONDO:0010396", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "developmental and epileptic encephalopathy, 2", "equivalent_identifiers": ["MONDO:0010396", "DOID:0080467", "OMIM:300672", "orphanet:505652", "UMLS:C4750718", "MESH:C564064", "MEDDRA:10083005", "NCIT:C147070", "SNOMEDCT:773230003", "medgen:1663579"], "information_content": 100.0}
{"id": "MONDO:0015790", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "central diabetes insipidus", "equivalent_identifiers": ["MONDO:0015790", "DOID:0081055", "orphanet:178029", "UMLS:C0687720", "MESH:D020790", "MEDDRA:10049518", "MEDDRA:10068587", "MEDDRA:10073192", "MEDDRA:10078568", "medgen:146919", "icd11.foundation:1009553897", "HP:0000863"], "information_content": 92.8}
{"id": "MONDO:0010078", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloperipheral dysplasia", "equivalent_identifiers": ["MONDO:0010078", "DOID:0112195", "OMIM:271700", "orphanet:1856", "UMLS:C0796173", "MESH:C535799", "NCIT:C135088", "SNOMEDCT:702339001", "medgen:163223"], "information_content": 100.0}
{"id": "MONDO:0024552", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "linear skin defects with multiple congenital anomalies 1", "equivalent_identifiers": ["MONDO:0024552", "DOID:0111808", "OMIM:309801", "UMLS:C0796070", "medgen:163210"], "information_content": 100.0}
{"id": "MONDO:0009891", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "acquired polycythemia vera", "equivalent_identifiers": ["MONDO:0009891", "DOID:8997", "OMIM:263300", "orphanet:729", "EFO:0002429", "UMLS:C0032463", "UMLS:C0152272", "MESH:D011087", "MEDDRA:10008867", "MEDDRA:10008868", "MEDDRA:10036056", "MEDDRA:10036057", "MEDDRA:10036060", "MEDDRA:10036061", "MEDDRA:10036725", "MEDDRA:10036726", "MEDDRA:10064071", "NCIT:C3336", "SNOMEDCT:128841001", "medgen:45996", "icd11.foundation:818364947", "ICD10:D45", "ICD9:207.1", "ICD9:238.4"], "information_content": 85.5}
{"id": "MONDO:0010041", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Charlevoix-Saguenay spastic ataxia", "equivalent_identifiers": ["MONDO:0010041", "DOID:0050946", "OMIM:270550", "orphanet:98", "UMLS:C1849140", "MESH:C536787", "MEDDRA:10085993", "MEDDRA:10085994", "NCIT:C154614", "SNOMEDCT:702445005", "medgen:338620"], "information_content": 100.0}
{"id": "MONDO:0008209", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Char syndrome", "equivalent_identifiers": ["MONDO:0008209", "DOID:0060563", "OMIM:169100", "orphanet:46627", "UMLS:C1868570", "MESH:C566815", "SNOMEDCT:703534001", "medgen:358356"], "information_content": 100.0}
{"id": "UniProtKB:Q96JH8-4", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "Ras-associating and dilute domain-containing protein isoform h4 (human)", "equivalent_identifiers": ["UniProtKB:Q96JH8-4", "PR:Q96JH8-4", "ENSEMBL:ENSP00000382492", "ENSEMBL:ENSP00000382492.3"], "information_content": 100.0}
{"id": "MONDO:0018908", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "non-Hodgkin lymphoma", "equivalent_identifiers": ["MONDO:0018908", "DOID:0060060", "orphanet:547", "EFO:0005952", "UMLS:C0024305", "UMLS:C1622254", "UMLS:C1622813", "MESH:D008228", "MEDDRA:10025311", "MEDDRA:10029547", "MEDDRA:10029593", "NCIT:C3211", "SNOMEDCT:1172592001", "SNOMEDCT:128929007", "SNOMEDCT:188675007", "medgen:6160", "HP:0012539"], "information_content": 54.0}
{"id": "MONDO:0010737", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "spondyloepiphyseal dysplasia tarda, X-linked", "equivalent_identifiers": ["MONDO:0010737", "DOID:0080362", "OMIM:313400", "UMLS:C3541456", "MEDDRA:10074798", "medgen:762085", "icd11.foundation:219612045"], "information_content": 100.0}
{"id": "MONDO:0007043", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Pfeiffer syndrome", "equivalent_identifiers": ["MONDO:0007043", "DOID:14705", "OMIM:101600", "orphanet:710", "UMLS:C0220658", "MEDDRA:10082289", "NCIT:C99100", "SNOMEDCT:70410008", "medgen:67390", "icd11.foundation:1075159878"], "information_content": 90.9}
{"id": "MONDO:0010397", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "severe neonatal-onset encephalopathy with microcephaly", "equivalent_identifiers": ["MONDO:0010397", "DOID:0111932", "OMIM:300673", "orphanet:209370", "UMLS:C1968556", "MESH:C566878", "NCIT:C132293", "SNOMEDCT:771303004", "medgen:409616", "icd11.foundation:240602582"], "information_content": 100.0}
{"id": "MONDO:0011925", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "congenital merosin-deficient muscular dystrophy 1A", "equivalent_identifiers": ["MONDO:0011925", "DOID:0110636", "OMIM:607855", "orphanet:258", "UMLS:C1263858", "UMLS:C1842898", "MESH:C537384", "MESH:C564317", "NCIT:C118783", "SNOMEDCT:111503008", "SNOMEDCT:787037000", "medgen:224728"], "information_content": 100.0}
{"id": "MONDO:0007405", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Crouzon syndrome", "equivalent_identifiers": ["MONDO:0007405", "DOID:2339", "OMIM:123500", "orphanet:207", "UMLS:C0010273", "UMLS:C2931196", "MESH:D003394", "MEDDRA:10066946", "MEDDRA:10066950", "NCIT:C84653", "SNOMEDCT:28861008", "medgen:1162", "icd11.foundation:1535725821", "ICD10:Q75.1", "HP:0004439"], "information_content": 92.8}
{"id": "UniProtKB:Q8N187-1", "category": ["biolink:Protein", "biolink:GeneProductMixin", "biolink:Polypeptide", "biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:GeneOrGeneProduct", "biolink:MacromolecularMachineMixin"], "name": "calcium-responsive transcription factor isoform h1 (human)", "equivalent_identifiers": ["UniProtKB:Q8N187-1", "PR:Q8N187-1", "ENSEMBL:ENSP00000384006", "ENSEMBL:ENSP00000384006.2", "ENSEMBL:ENSP00000414644", "ENSEMBL:ENSP00000414644.1"], "information_content": 100.0}
{"id": "MONDO:0011855", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "granular corneal dystrophy type II", "equivalent_identifiers": ["MONDO:0011855", "DOID:0060444", "OMIM:607541", "orphanet:98963", "UMLS:C1275685", "MESH:C535474", "MEDDRA:10086105", "SNOMEDCT:397568004", "medgen:220900"], "information_content": 100.0}
{"id": "MONDO:0014602", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "Hogue-Janssens syndrome 1", "equivalent_identifiers": ["MONDO:0014602", "DOID:0070065", "OMIM:616355", "orphanet:457279", "UMLS:C5779996", "medgen:1830493"], "information_content": 100.0}
{"id": "MONDO:0008090", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "cyclic hematopoiesis", "equivalent_identifiers": ["MONDO:0008090", "DOID:5339", "OMIM:162800", "orphanet:2686", "UMLS:C0221023", "MESH:C536227", "MEDDRA:10053176", "NCIT:C3820", "SNOMEDCT:191347008", "medgen:65121", "ICD10:D70.4", "ICD9:288.02", "HP:0040289"], "information_content": 95.4}
{"id": "MONDO:0012714", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "early-onset myopathy with fatal cardiomyopathy", "equivalent_identifiers": ["MONDO:0012714", "DOID:0081341", "OMIM:611705", "orphanet:289377", "UMLS:C2673677", "MESH:C567129", "SNOMEDCT:702343002", "medgen:435983"], "information_content": 100.0}
{"id": "MONDO:0013766", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "familial cold autoinflammatory syndrome 3", "equivalent_identifiers": ["MONDO:0013766", "DOID:0090064", "OMIM:614468", "orphanet:300359", "UMLS:C3280914", "UMLS:C4722480", "SNOMEDCT:773646003", "medgen:482544"], "information_content": 100.0}
{"id": "MONDO:0011152", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "PHGDH deficiency", "equivalent_identifiers": ["MONDO:0011152", "DOID:0050722", "OMIM:601815", "orphanet:79351", "UMLS:C1866174", "MESH:C566618", "medgen:400935"], "information_content": 100.0}
{"id": "MONDO:0100428", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "progressive bulbar palsy of childhood", "equivalent_identifiers": ["MONDO:0100428", "DOID:0080632", "OMIM:211500", "UMLS:C0015708", "UMLS:C0393540", "SNOMEDCT:230246005", "medgen:41975"], "information_content": 100.0}
{"id": "MONDO:0012791", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria", "equivalent_identifiers": ["MONDO:0012791", "DOID:0080124", "OMIM:612073", "orphanet:1933", "UMLS:C2749864", "UMLS:C3501372", "UMLS:C3711369", "MESH:C567624", "MESH:C580473", "SNOMEDCT:1197052008", "medgen:413170"], "information_content": 100.0}
{"id": "MONDO:0009949", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "pyruvate carboxylase deficiency disease", "equivalent_identifiers": ["MONDO:0009949", "DOID:3651", "OMIM:266150", "orphanet:3008", "EFO:1001142", "UMLS:C0034341", "UMLS:C2931141", "MESH:C536255", "MESH:D015324", "MEDDRA:10077944", "NCIT:C85040", "SNOMEDCT:87694001", "medgen:18801", "icd11.foundation:2047948460"], "information_content": 90.9}
{"id": "MONDO:0010556", "category": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing"], "name": "X-linked chondrodysplasia punctata", "equivalent_identifiers": ["MONDO:0010556", "DOID:0060292", "UMLS:C0263627", "SNOMEDCT:66924005", "medgen:538019", "ICD10:Q77.3"], "information_content": 92.8}